Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_024675.4(PALB2):c.3549C>G (p.Tyr1183Ter)	SNV Germline	Chr16:23603471	Pathogenic/Likely pathogenic	Fanconi anemia complementation group N Familial cancer of breast not specified Hereditary cancer-predisposing syndrome Condition: not provided Pancreatic cancer, susceptibility to, 3 PALB2-related disorder Breast-ovarian cancer, familial, susceptibility to, 5 Hereditary breast ovarian cancer syndrome Inherited breast cancer and ovarian cancer PALB2-related cancer predisposition	Criteria Provided Multiple Submitters No Conflicts	CA151250	rs_118203998	27 SubmittersRCV000001304 RCV000114634 RCV000121742 RCV000129158 RCV000212830 RCV001355428 RCV004528063 RCV005053883 RCV005623061 RCV005430457 RCV006554421
NM_000051.4(ATM):c.7327C>T (p.Arg2443Ter)	SNV Germline/somatic	Chr11:108330233	Pathogenic	Ataxia-telangiectasia syndrome Hereditary cancer-predisposing syndrome Condition: not provided Breast and/or ovarian cancer Familial cancer of breast Carcinoma of pancreas Tip-toe gait See cases Neoplasm ATM-related cancer predisposition Hereditary breast ovarian cancer syndrome	Criteria Provided Multiple Submitters No Conflicts	CA325513	rs_121434220	27 SubmittersRCV000003175 RCV000220229 RCV000484232 RCV001270953 RCV001250440 RCV001391206 RCV003318492 RCV004797750 RCV005229762 RCV005357062 RCV005089149
NM_000051.4(ATM):c.496+5G>A	SNV Germline	Chr11:108235839	Pathogenic/Likely pathogenic	Ataxia - telangiectasia variant Condition: not provided Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome Hereditary breast ovarian cancer syndrome Familial cancer of breast	Criteria Provided Multiple Submitters No Conflicts	CA115952	rs_796051858	13 SubmittersRCV000003188 RCV000235952 RCV000213739 RCV000558736 RCV001249854 RCV003466791
NM_032043.3(BRIP1):c.139C>G (p.Pro47Ala)	SNV Germline	Chr17:61859862	Conflicting classifications of pathogenicity	Breast cancer, early-onset Hereditary cancer-predisposing syndrome not specified Fanconi anemia complementation group J Familial cancer of breast Fanconi anemia complementation group J Condition: not provided BRIP1-related disorder Familial cancer of breast Malignant tumor of breast Breast and/or ovarian cancer Hereditary breast ovarian cancer syndrome Ovarian cancer Monogenic short stature	Criteria Provided Conflicting Classifications	CA117038	rs_28903098	33 SubmittersRCV000005002 RCV000116124 RCV000200979 RCV000199377 RCV000409748 RCV000587908 RCV000778130 RCV000990044 RCV001090025 RCV003149563 RCV005089172 RCV005430106 RCV006629051
NM_007194.4(CHEK2):c.433C>T (p.Arg145Trp)	SNV Germline	Chr22:28725254	Likely pathogenic	CHEK2-related cancer predisposition Hereditary cancer-predisposing syndrome not specified Familial cancer of breast Li-Fraumeni syndrome Condition: not provided Malignant tumor of breast Breast and/or ovarian cancer Gastric cancer Li-Fraumeni syndrome 1 Breast-ovarian cancer, familial, susceptibility to, 1 Hereditary breast ovarian cancer syndrome	Criteria Provided Multiple Submitters No Conflicts	CA117632	rs_137853007	35 SubmittersRCV000005940 RCV000116016 RCV000120554 RCV000197612 RCV000587420 RCV000505730 RCV001358124 RCV003149565 RCV003162212 RCV003224854 RCV005861015 RCV005638400
NM_007194.4(CHEK2):c.539G>A (p.Arg180His)	SNV Germline	Chr22:28725030	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Familial cancer of breast Condition: not provided not specified Malignant tumor of breast Prostate cancer Hereditary breast ovarian cancer syndrome	Criteria Provided Conflicting Classifications	CA117639	rs_137853009	20 SubmittersRCV000116025 RCV000206384 RCV000212427 RCV000780186 RCV001354132 RCV003333686 RCV004760321
NM_007194.4(CHEK2):c.541C>T (p.Arg181Cys)	SNV Germline/somatic	Chr22:28725028	Conflicting classifications of pathogenicity	Prostate cancer, somatic Hereditary cancer-predisposing syndrome Condition: not provided Familial cancer of breast not specified CHEK2-related disorder Hereditary breast ovarian cancer syndrome CHEK2-related cancer predisposition Predisposition to cancer	Criteria Provided Conflicting Classifications	CA117640	rs_137853010	27 SubmittersRCV000005945 RCV000164479 RCV000216866 RCV000196466 RCV001193084 RCV004737137 RCV005089184 RCV005357082 RCV005600614
NM_007194.4(CHEK2):c.542G>A (p.Arg181His)	SNV Germline	Chr22:28725027	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Familial cancer of breast Prostate cancer Bone osteosarcoma CHEK2-related cancer predisposition Familial cancer of breast Hereditary breast ovarian cancer syndrome CHEK2-related cancer predisposition Malignant tumor of breast not specified Breast and/or ovarian cancer Prostate cancer Familial prostate cancer Bone osteosarcoma CHEK2-related cancer predisposition Breast-ovarian cancer, familial, susceptibility to, 2	Criteria Provided Conflicting Classifications	CA117641	rs_121908701	22 SubmittersRCV000129670 RCV000114761 RCV000233960 RCV000765623 RCV001030688 RCV001294022 RCV001357854 RCV001193685 RCV001797995 RCV003333687 RCV005025011 RCV005604764
NM_007194.4(CHEK2):c.1283C>T (p.Ser428Phe)	SNV Germline	Chr22:28695219	Conflicting classifications of pathogenicity	Breast cancer, susceptibility to Hereditary cancer-predisposing syndrome Breast and colorectal cancer, susceptibility to Condition: not provided Familial cancer of breast Breast neoplasm Hereditary breast ovarian cancer syndrome Prostate cancer Bone osteosarcoma CHEK2-related cancer predisposition Familial cancer of breast Malignant tumor of breast CHEK2-related cancer risk TUMOR PREDISPOSITION SYNDROME 4, BREAST Breast and/or ovarian cancer CHEK2-related disorder Inherited breast cancer and ovarian cancer Familial prostate cancer Bone osteosarcoma CHEK2-related cancer predisposition CHEK2-related cancer predisposition	Criteria Provided Conflicting Classifications	CA250528	rs_137853011	39 SubmittersRCV000005953 RCV000115994 RCV000210180 RCV000212459 RCV000197718 RCV000388223 RCV000586482 RCV000515286 RCV001354412 RCV001449813 RCV003333691 RCV003492287 RCV004532295 RCV004691717 RCV005025012 RCV005414444
NM_058216.3(RAD51C):c.773G>A (p.Arg258His)	SNV Germline	Chr17:58709926	Conflicting classifications of pathogenicity	Fanconi anemia complementation group O Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 3 Fanconi anemia complementation group O Breast-ovarian cancer, familial, susceptibility to, 3 Familial ovarian cancer RAD51C-related cancer predisposition	Criteria Provided Conflicting Classifications	CA168628	rs_267606997	16 SubmittersRCV000007224 RCV000131703 RCV000506412 RCV001194260 RCV003315500 RCV005394130 RCV005600615 RCV006249550
NM_058216.3(RAD51C):c.374G>T (p.Gly125Val)	SNV Germline	Chr17:58695159	Likely pathogenic	Breast-ovarian cancer, familial, susceptibility to, 3 Condition: not provided Hereditary breast ovarian cancer syndrome Fanconi anemia complementation group O	Criteria Provided Multiple Submitters No Conflicts	CA118526	rs_267606998	4 SubmittersRCV000007226 RCV001195016 RCV001797586 RCV003507247
NM_002485.5(NBN):c.511A>G (p.Ile171Val)	SNV Germline	Chr8:89978293	Conflicting classifications of pathogenicity	Aplastic anemia Leukemia, acute lymphoblastic, susceptibility to Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency not specified Acute lymphoid leukemia Condition: not provided Hereditary breast ovarian cancer syndrome Carcinoma of colon Breast carcinoma Hereditary cancer NBN-related disorder Diffuse midline glioma, H3 K27-altered Pediatric high-grade glioma	Criteria Provided Conflicting Classifications	CA160981	rs_61754966	29 SubmittersRCV000007360 RCV000007361 RCV000115797 RCV000197512 RCV000121618 RCV000490266 RCV000589577 RCV001030566 RCV001358233 RCV001262350 RCV003492288 RCV003891430 RCV004776268 RCV004776269
NM_000059.4(BRCA2):c.8165C>G (p.Thr2722Arg)	SNV Germline	Chr13:32363367	Pathogenic	Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome BRCA2-related disorder Condition: not provided Hereditary breast ovarian cancer syndrome Familial cancer of breast	Reviewed By Expert Panel	CA025480	rs_80359062	23 SubmittersRCV000031723 RCV000163026 RCV000405476 RCV000414368 RCV001193120 RCV003460448
NM_000059.4(BRCA2):c.8219T>A (p.Leu2740Ter)	SNV Germline	Chr13:32363421	Pathogenic	Fanconi anemia complementation group D1 Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary breast ovarian cancer syndrome	Reviewed By Expert Panel	CA025524	rs_80359070	5 SubmittersRCV000009934 RCV000113889 RCV000236578 RCV001380789
NM_000059.4(BRCA2):c.4648G>T (p.Glu1550Ter)	SNV Germline	Chr13:32339003	Pathogenic	Fanconi anemia complementation group D1 Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Fanconi anemia Familial cancer of breast	Reviewed By Expert Panel	CA020587	rs_80358695	9 SubmittersRCV000009935 RCV000044460 RCV000113326 RCV000571951 RCV001530923 RCV003473074
NM_000059.4(BRCA2):c.7529T>C (p.Leu2510Pro)	SNV Germline	Chr13:32356521	Pathogenic/Likely pathogenic	Fanconi anemia complementation group D1 Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome	Criteria Provided Multiple Submitters No Conflicts	CA025134	rs_80358979	12 SubmittersRCV000009936 RCV000113772 RCV000478444 RCV000509658 RCV001290186
NM_000059.4(BRCA2):c.5645C>G (p.Ser1882Ter)	SNV Germline	Chr13:32340000	Pathogenic	Wilms tumor 1 Glioma susceptibility 3 Medulloblastoma Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided	Reviewed By Expert Panel	CA022825	rs_80358785	11 SubmittersRCV000009937 RCV000009938 RCV000009939 RCV000113452 RCV000568762 RCV000496664 RCV001284577
NM_000059.4(BRCA2):c.9196C>T (p.Gln3066Ter)	SNV Germline	Chr13:32380085	Pathogenic	Fanconi anemia complementation group D1 Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 1 Hereditary breast ovarian cancer syndrome Condition: not provided Malignant tumor of breast Familial cancer of breast BRCA2-related cancer predisposition Cancer or benign tumor	Reviewed By Expert Panel	CA026028	rs_80359180	26 SubmittersRCV000009941 RCV000077463 RCV000131052 RCV000210196 RCV000257912 RCV000235644 RCV001357808 RCV003460449 RCV004802932 RCV005624682
NM_000059.4(BRCA2):c.631+1G>A	SNV Germline	Chr13:32326614	Pathogenic	Fanconi anemia complementation group D1 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 1	Criteria Provided Multiple Submitters No Conflicts	CA023848	rs_81002897	11 SubmittersRCV000009942 RCV000044895 RCV000131851 RCV000113913 RCV000985563 RCV001310166
NM_000059.4(BRCA2):c.631+2T>G	SNV Germline	Chr13:32326615	Pathogenic	Fanconi anemia complementation group D1 Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Breast and/or ovarian cancer Fanconi anemia Malignant tumor of breast Familial cancer of breast BRCA2-related cancer predisposition	Reviewed By Expert Panel	CA023852	rs_81002899	26 SubmittersRCV000009943 RCV000031615 RCV000044897 RCV000129071 RCV000195357 RCV000769680 RCV000826135 RCV001353557 RCV003147279 RCV004802933
NM_000546.6(TP53):c.743G>A (p.Arg248Gln)	SNV Germline/somatic	Chr17:7674220	Pathogenic	Li-Fraumeni syndrome 1 Hereditary cancer-predisposing syndrome Sarcoma Condition: not provided Multiple myeloma Li-Fraumeni syndrome 11 conditions Lymphoma Ovarian neoplasm Neoplasm Lip and oral cavity carcinoma Rhabdomyosarcoma Ductal carcinoma in situ Gastric cancer Malignant tumor of urinary bladder Adrenocortical carcinoma, hereditary TP53-related disorder Hereditary breast ovarian cancer syndrome Familial cancer of breast Colorectal cancer Breast carcinoma 12 conditions Medulloblastoma WNT activated Adenocarcinoma of the large intestine Embryonal tumor with multilayered rosettes Nasopharyngeal carcinoma Anaplastic/large cell medulloblastoma Adrenal cortex carcinoma Embryonal rhabdomyosarcoma Diffuse midline glioma, H3 K27M-mutant	Reviewed By Expert Panel	CA000387	rs_11540652	46 SubmittersRCV000013150 RCV000115736 RCV000148913 RCV000235221 RCV000424869 RCV000197114 RCV000763417 RCV000790860 RCV000785344 RCV000426606 RCV001255671 RCV001257519 RCV001527465 RCV003162244 RCV003332079 RCV003466852 RCV004745155 RCV004794335 RCV001270275 RCV004813032 RCV001554245 RCV005016259 RCV006253477 RCV006253478 RCV006253479 RCV006253474 RCV006454632 RCV003996090 RCV006253475 RCV006253476
NM_000546.6(TP53):c.1010G>A (p.Arg337His)	SNV Germline/somatic	Chr17:7670699	Pathogenic/Likely pathogenic/Pathogenic, low penetrance	ADRENOCORTICAL CARCINOMA, PEDIATRIC Li-Fraumeni syndrome Condition: not provided Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1 Breast neoplasm Squamous cell carcinoma of the head and neck Adrenocortical carcinoma, hereditary Gastric cancer Neuroblastoma Ovarian cancer Hereditary breast ovarian cancer syndrome 12 conditions TP53-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA000013	rs_121912664	28 SubmittersRCV000013178 RCV000197240 RCV000481814 RCV000128923 RCV000576817 RCV000413754 RCV000989700 RCV001375632 RCV003162248 RCV006253508 RCV006555321 RCV002307364 RCV002496338 RCV004797591
NM_000546.6(TP53):c.566C>T (p.Ala189Val)	SNV Germline	Chr17:7674965	Conflicting classifications of pathogenicity	Familial colorectal cancer Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1 Li-Fraumeni syndrome Hereditary breast ovarian cancer syndrome not specified Condition: not provided Li-Fraumeni syndrome 1 Familial cancer of breast	Criteria Provided Conflicting Classifications	CA000270	rs_121912665	13 SubmittersRCV000013182 RCV000132058 RCV000144671 RCV000536677 RCV001030736 RCV001192620 RCV003476892 RCV005357117
NM_000249.4(MLH1):c.2041G>A (p.Ala681Thr)	SNV Germline	Chr3:37048955	Pathogenic	Colorectal cancer, hereditary nonpolyposis, type 2 Lynch syndrome not specified Hereditary cancer-predisposing syndrome Condition: not provided Hereditary nonpolyposis colorectal neoplasms Colorectal cancer, hereditary nonpolyposis, type 2 Muir-Torré syndrome Mismatch repair cancer syndrome 1 Hereditary nonpolyposis colon cancer Muir-Torré syndrome Hereditary breast ovarian cancer syndrome Inherited MMR deficiency (Lynch syndrome)	Reviewed By Expert Panel	CA008304	rs_63750217	27 SubmittersRCV000018632 RCV000075495 RCV000202172 RCV000213700 RCV000519240 RCV000524270 RCV000763105 RCV001328323 RCV002288511 RCV005251042 RCV005865086
NM_007294.4(BRCA1):c.190T>G (p.Cys64Gly)	SNV Germline	Chr17:43106478	Pathogenic	Breast-ovarian cancer, familial, susceptibility to, 1 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided not specified	Criteria Provided Multiple Submitters No Conflicts	CA001250	rs_80357064	16 SubmittersRCV000019228 RCV000047634 RCV000129894 RCV000235121 RCV000496255
NM_007294.4(BRCA1):c.181T>G (p.Cys61Gly)	SNV Germline/somatic	Chr17:43106487	Pathogenic	Breast-ovarian cancer, familial, susceptibility to, 1 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided Familial cancer of breast Breast carcinoma Breast neoplasm Ovarian neoplasm Breast and/or ovarian cancer BRCA1-related cancer predisposition Fanconi anemia, complementation group S Pancreatic cancer, susceptibility to, 4 Breast-ovarian cancer, familial, susceptibility to, 1 Inherited ovarian cancer (without breast cancer)	Reviewed By Expert Panel	CA001182	rs_28897672	64 SubmittersRCV000019229 RCV000047597 RCV000131902 RCV000159935 RCV000239114 RCV000415051 RCV000412714 RCV000785199 RCV001270967 RCV004802937 RCV005003390 RCV005646760
NM_007294.4(BRCA1):c.3607C>T (p.Arg1203Ter)	SNV Germline/somatic	Chr17:43091924	Pathogenic	Breast-ovarian cancer, familial, susceptibility to, 1 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Breast neoplasm Condition: not provided Familial cancer of breast Ovarian cancer Ovarian neoplasm Breast and/or ovarian cancer Ovarian carcinoma Malignant tumor of urinary bladder Gastric cancer Inherited breast cancer and ovarian cancer BRCA1-related disorder BRCA1-related cancer predisposition Fanconi anemia, complementation group S Pancreatic cancer, susceptibility to, 4 Breast-ovarian cancer, familial, susceptibility to, 1 Inherited ovarian cancer (without breast cancer)	Reviewed By Expert Panel	CA002305	rs_62625308	49 SubmittersRCV000019240 RCV000048251 RCV000131818 RCV000148389 RCV000159978 RCV000239343 RCV000677815 RCV000785373 RCV000735444 RCV001642230 RCV003332084 RCV003162256 RCV004808551 RCV004554605 RCV004802939 RCV005016279 RCV005646761
NM_007294.4(BRCA1):c.3748G>T (p.Glu1250Ter)	SNV Germline	Chr17:43091783	Pathogenic	Breast-ovarian cancer, familial, susceptibility to, 1 Hereditary breast ovarian cancer syndrome Condition: not provided Hereditary cancer-predisposing syndrome Familial cancer of breast BRCA1-related cancer predisposition	Reviewed By Expert Panel	CA002402	rs_28897686	29 SubmittersRCV000019241 RCV000048311 RCV000074586 RCV000131811 RCV000465125 RCV004802940
NM_007294.4(BRCA1):c.4327C>T (p.Arg1443Ter)	SNV Germline	Chr17:43082434	Pathogenic	Breast-ovarian cancer, familial, susceptibility to, 1 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Familial cancer of breast not specified Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 1 Fanconi anemia, complementation group S Pancreatic cancer, susceptibility to, 4 Familial cancer of breast Breast and/or ovarian cancer Malignant tumor of breast BRCA1-related cancer predisposition BRCA1-related disorder Breast-ovarian cancer, familial, susceptibility to, 1 Fanconi anemia, complementation group S Familial cancer of breast Inherited breast cancer and ovarian cancer	Reviewed By Expert Panel	CA002769	rs_41293455	51 SubmittersRCV000019244 RCV000048523 RCV000131880 RCV000159989 RCV000239083 RCV000235131 RCV000763000 RCV000735445 RCV001353404 RCV004802942 RCV005249992 RCV005357149 RCV005252689
NM_007294.4(BRCA1):c.2389G>T (p.Glu797Ter)	SNV Germline	Chr17:43093142	Pathogenic	Breast-ovarian cancer, familial, susceptibility to, 1 Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome Breast and/or ovarian cancer Inherited breast cancer and ovarian cancer	Reviewed By Expert Panel	CA001588	rs_62625306	19 SubmittersRCV000019252 RCV000162856 RCV000212169 RCV000496416 RCV000769717 RCV005252690
NM_007294.4(BRCA1):c.211A>G (p.Arg71Gly)	SNV Germline/somatic	Chr17:43106457	Pathogenic	Breast-ovarian cancer, familial, susceptibility to, 1 Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Familial cancer of breast Fanconi anemia, complementation group S Pancreatic cancer, susceptibility to, 4 Breast-ovarian cancer, familial, susceptibility to, 1 Familial cancer of breast BRCA1-related cancer predisposition BRCA1-related disorder	Reviewed By Expert Panel	CA001398	rs_80357382	36 SubmittersRCV000019263 RCV000047713 RCV000131899 RCV000195359 RCV000469732 RCV000763009 RCV004802945 RCV004758595
NM_007294.4(BRCA1):c.5324T>G (p.Met1775Arg)	SNV Germline	Chr17:43051071	Pathogenic	Breast-ovarian cancer, familial, susceptibility to, 1 Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Breast and/or ovarian cancer BRCA1-related disorder BRCA1-related cancer predisposition Inherited breast cancer and ovarian cancer	Reviewed By Expert Panel	CA003478	rs_41293463	27 SubmittersRCV000019264 RCV000048931 RCV000131375 RCV000167787 RCV001170589 RCV004554608 RCV004802946 RCV006436391
NM_007294.4(BRCA1):c.5324T>A (p.Met1775Lys)	SNV Germline	Chr17:43051071	Pathogenic	Breast-ovarian cancer, familial, susceptibility to, 1 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome	Reviewed By Expert Panel	CA003476	rs_41293463	10 SubmittersRCV000019265 RCV000496817 RCV001526335
NM_002878.4(RAD51D):c.556C>T (p.Arg186Ter)	SNV Germline	Chr17:35106406	Pathogenic/Likely pathogenic	Breast-ovarian cancer, familial, susceptibility to, 4 Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome Breast and/or ovarian cancer Malignant tumor of breast Ovarian neoplasm Inherited ovarian cancer (without breast cancer) Inherited breast cancer and ovarian cancer Polycystic kidney disease 2	Criteria Provided Multiple Submitters No Conflicts	CA129082	rs_387906843	25 SubmittersRCV000023220 RCV000129358 RCV000479705 RCV000589947 RCV001271049 RCV001357904 RCV002463429 RCV005055059 RCV005252697 RCV006449356
NM_002878.4(RAD51D):c.757C>T (p.Arg253Ter)	SNV Germline	Chr17:35101347	Pathogenic	Breast-ovarian cancer, familial, susceptibility to, 4 Hereditary cancer-predisposing syndrome Condition: not provided Breast carcinoma Ovarian carcinoma Hereditary breast ovarian cancer syndrome	Criteria Provided Multiple Submitters No Conflicts	CA129085	rs_137886232	16 SubmittersRCV000023223 RCV000130349 RCV000235264 RCV001554259 RCV002463349 RCV005237406
NM_032043.3(BRIP1):c.1045G>C (p.Ala349Pro)	SNV Germline	Chr17:61801348	Pathogenic/Likely pathogenic	Fanconi anemia complementation group J not specified Hereditary cancer-predisposing syndrome Condition: not provided Fanconi anemia complementation group J Familial cancer of breast Diffuse intrinsic pontine glioma Hereditary breast ovarian cancer syndrome Familial cancer of breast BRIP1-related disorder Familial ovarian cancer	Criteria Provided Multiple Submitters No Conflicts	CA157735	rs_149364097	16 SubmittersRCV000023492 RCV000120412 RCV000131544 RCV000216316 RCV000466014 RCV000761010 RCV002271374 RCV003335053 RCV004528133 RCV005600622
NM_058216.3(RAD51C):c.397C>T (p.Gln133Ter)	SNV Germline	Chr17:58695182	Pathogenic	Breast-ovarian cancer, familial, susceptibility to, 3 Fanconi anemia complementation group O Hereditary cancer-predisposing syndrome Condition: not provided Breast and/or ovarian cancer RAD51C-related disorder Hereditary breast ovarian cancer syndrome RAD51C-related cancer predisposition Inherited breast cancer and ovarian cancer	Criteria Provided Multiple Submitters No Conflicts	CA325658	rs_387907159	15 SubmittersRCV000024264 RCV000205139 RCV000219684 RCV000483994 RCV003149575 RCV004734529 RCV004576911 RCV006249564 RCV006449944
NM_000249.4(MLH1):c.94A>G (p.Ile32Val)	SNV Germline	Chr3:36993641	Conflicting classifications of pathogenicity	Lynch syndrome Condition: not provided Hereditary nonpolyposis colorectal neoplasms Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome	Criteria Provided Conflicting Classifications	CA013254	rs_2020872	9 SubmittersRCV000030233 RCV000217828 RCV000524324 RCV000568967 RCV001030560
NM_000251.3(MSH2):c.942+3A>T	SNV Germline/somatic	Chr2:47414421	Pathogenic	Lynch syndrome 1 Lynch syndrome Hereditary cancer-predisposing syndrome Condition: not provided Hereditary nonpolyposis colorectal neoplasms Lynch-like syndrome Carcinoma of colon Breast carcinoma Hereditary nonpolyposis colon cancer Lynch syndrome 1 Muir-Torré syndrome Mismatch repair cancer syndrome 2 MSH2-related disorder Hereditary breast ovarian cancer syndrome Uterine corpus endometrial carcinoma Colon adenocarcinoma	Reviewed By Expert Panel	CA022585	rs_193922376	35 SubmittersRCV000001844 RCV000030256 RCV000115549 RCV000201997 RCV000524424 RCV001249912 RCV001353565 RCV001579303 RCV001731319 RCV005025083 RCV004734535 RCV006605197 RCV005888781 RCV005888780
NM_007294.4(BRCA1):c.1033G>T (p.Asp345Tyr)	SNV Germline	Chr17:43094498	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 1 Hereditary breast ovarian cancer syndrome Condition: not provided Hereditary cancer-predisposing syndrome Familial cancer of breast	Criteria Provided Conflicting Classifications	CA000695	rs_80356961	10 SubmittersRCV000030969 RCV000047314 RCV000236830 RCV000509756 RCV002250468
NM_007294.4(BRCA1):c.116G>A (p.Cys39Tyr)	SNV Germline/somatic	Chr17:43115744	Pathogenic	Breast-ovarian cancer, familial, susceptibility to, 1 Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome Breast neoplasm Malignant tumor of urinary bladder	Criteria Provided Multiple Submitters No Conflicts	CA000772	rs_80357498	20 SubmittersRCV000030973 RCV000222558 RCV000235619 RCV000496391 RCV000677804 RCV003332086
NM_007294.4(BRCA1):c.116G>T (p.Cys39Phe)	SNV Germline	Chr17:43115744	Pathogenic/Likely pathogenic	Breast-ovarian cancer, familial, susceptibility to, 1 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Breast and/or ovarian cancer	Criteria Provided Multiple Submitters No Conflicts	CA000773	rs_80357498	8 SubmittersRCV000030974 RCV000206829 RCV000509711 RCV001798024
NM_007294.4(BRCA1):c.1202G>A (p.Gly401Glu)	SNV Germline	Chr17:43094329	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 1 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome not specified Condition: not provided Fanconi anemia, complementation group S Pancreatic cancer, susceptibility to, 4 Breast-ovarian cancer, familial, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA000791	rs_397507184	9 SubmittersRCV000030979 RCV000130767 RCV000539447 RCV001293586 RCV002472941 RCV005016302
NM_007294.4(BRCA1):c.1222A>G (p.Lys408Glu)	SNV Germline	Chr17:43094309	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 1 Hereditary cancer-predisposing syndrome Condition: not provided not specified Hereditary breast ovarian cancer syndrome Malignant tumor of breast BRCA1-related disorder	Criteria Provided Conflicting Classifications	CA000801	rs_80357253	12 SubmittersRCV000030980 RCV000130521 RCV000586793 RCV000426822 RCV001087889 RCV001358158 RCV004758601
NM_007294.4(BRCA1):c.134+5G>C	SNV Germline	Chr17:43115721	Pathogenic/Likely pathogenic	Breast-ovarian cancer, familial, susceptibility to, 1 Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome	Criteria Provided Multiple Submitters No Conflicts	CA000887	rs_80358038	5 SubmittersRCV000030981 RCV002381275 RCV003493417 RCV003644866
NM_007294.4(BRCA1):c.134A>C (p.Lys45Thr)	SNV Germline	Chr17:43115726	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 1 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA000890	rs_80356863	11 SubmittersRCV000030983 RCV000047432 RCV000166686 RCV000585902 RCV004767024
NM_007294.4(BRCA1):c.135-1G>T	SNV Germline	Chr17:43106534	Pathogenic	Breast-ovarian cancer, familial, susceptibility to, 1 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided Malignant tumor of breast Breast-ovarian cancer, familial, susceptibility to, 1 Fanconi anemia, complementation group S Pancreatic cancer, susceptibility to, 4 Familial cancer of breast BRCA1-related cancer predisposition Inherited breast cancer and ovarian cancer	Reviewed By Expert Panel	CA000895	rs_80358158	22 SubmittersRCV000030985 RCV000047435 RCV000131843 RCV000236913 RCV001358046 RCV002504838 RCV004566758 RCV006255133
NM_007294.4(BRCA1):c.1396C>T (p.Arg466Trp)	SNV Germline	Chr17:43094135	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 1 Hereditary cancer-predisposing syndrome not specified Condition: not provided Hereditary breast ovarian cancer syndrome Breast and/or ovarian cancer BRCA1-related disorder	Criteria Provided Conflicting Classifications	CA000939	rs_80356964	16 SubmittersRCV000030991 RCV000132353 RCV000502109 RCV001353504 RCV001485675 RCV003149590 RCV004554611
NM_007294.4(BRCA1):c.1405G>A (p.Ala469Thr)	SNV Germline	Chr17:43094126	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 1 Hereditary cancer-predisposing syndrome not specified Hereditary breast ovarian cancer syndrome Condition: not provided Breast and/or ovarian cancer Fanconi anemia, complementation group S Pancreatic cancer, susceptibility to, 4 Breast-ovarian cancer, familial, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA000948	rs_397507187	14 SubmittersRCV000030992 RCV000165869 RCV000236685 RCV000526449 RCV000587317 RCV003149591 RCV005016303
NM_007294.4(BRCA1):c.1459G>T (p.Val487Phe)	SNV Germline	Chr17:43094072	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 1 Hereditary cancer-predisposing syndrome not specified Hereditary breast ovarian cancer syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA000979	rs_369588942	12 SubmittersRCV000030995 RCV000130777 RCV000159870 RCV000459454 RCV000586346
NM_007294.4(BRCA1):c.1480C>T (p.Gln494Ter)	SNV Germline	Chr17:43094051	Pathogenic	Breast-ovarian cancer, familial, susceptibility to, 1 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided	Reviewed By Expert Panel	CA000991	rs_80357010	19 SubmittersRCV000030996 RCV000047490 RCV000223308 RCV000657593
NM_007294.4(BRCA1):c.1532G>T (p.Gly511Val)	SNV Germline	Chr17:43093999	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 1 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome	Criteria Provided Conflicting Classifications	CA001033	rs_397507188	4 SubmittersRCV000031000 RCV002399348 RCV006629065
NM_007294.4(BRCA1):c.154C>T (p.Leu52Phe)	SNV Germline	Chr17:43106514	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 1 Hereditary cancer-predisposing syndrome not specified Condition: not provided Hereditary breast ovarian cancer syndrome Breast and/or ovarian cancer Ovarian cancer	Criteria Provided Conflicting Classifications	CA001039	rs_80357084	21 SubmittersRCV000031002 RCV000164750 RCV000236664 RCV000588129 RCV001085660 RCV001798025 RCV003153309
NM_007294.4(BRCA1):c.161A>G (p.Gln54Arg)	SNV Germline	Chr17:43106507	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 1 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA001078	rs_397507189	6 SubmittersRCV000031003 RCV001254342 RCV004948137
NM_007294.4(BRCA1):c.1687C>T (p.Gln563Ter)	SNV Germline	Chr17:43093844	Pathogenic	Breast-ovarian cancer, familial, susceptibility to, 1 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided Ovarian cancer Ovarian neoplasm Breast carcinoma Familial cancer of breast Fanconi anemia, complementation group S Breast-ovarian cancer, familial, susceptibility to, 1 Pancreatic cancer, susceptibility to, 4 Breast and/or ovarian cancer Ovarian neoplasm Familial cancer of breast Endometrial carcinoma BRCA1-related disorder BRCA1-related cancer predisposition	Reviewed By Expert Panel	CA001106	rs_80356898	52 SubmittersRCV000031007 RCV000047559 RCV000131897 RCV000159956 RCV000238721 RCV000415155 RCV000763006 RCV000770747 RCV000785207 RCV000786987 RCV003128130 RCV004554614 RCV004802954
NM_007294.4(BRCA1):c.1690A>T (p.Asn564Tyr)	SNV Germline	Chr17:43093841	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 1 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA001110	rs_397507191	3 SubmittersRCV000031008 RCV000536478 RCV003156722
NM_007294.4(BRCA1):c.1826A>G (p.Asn609Ser)	SNV Germline	Chr17:43093705	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 1 Condition: not provided Hereditary breast ovarian cancer syndrome not specified Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA001189	rs_80357236	7 SubmittersRCV000031010 RCV001588833 RCV001317096 RCV003323366 RCV003156723
NM_007294.4(BRCA1):c.1912G>A (p.Glu638Lys)	SNV Germline	Chr17:43093619	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 1 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA001255	rs_80357005	10 SubmittersRCV000031014 RCV000776222 RCV001307829 RCV002247401 RCV005641499
NM_007294.4(BRCA1):c.1960A>T (p.Lys654Ter)	SNV Germline	Chr17:43093571	Pathogenic	Breast-ovarian cancer, familial, susceptibility to, 1 Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome	Reviewed By Expert Panel	CA001303	rs_80357355	13 SubmittersRCV000031017 RCV000047658 RCV000131895 RCV000203662
NM_007294.4(BRCA1):c.19C>T (p.Arg7Cys)	SNV Germline	Chr17:43124078	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 1 Hereditary cancer-predisposing syndrome not specified Condition: not provided Hereditary breast ovarian cancer syndrome Malignant tumor of breast Breast and/or ovarian cancer BRCA1-related cancer predisposition BRCA1-related disorder	Criteria Provided Conflicting Classifications	CA001330	rs_80356994	16 SubmittersRCV000031021 RCV000130702 RCV000428757 RCV000758790 RCV001085456 RCV001354707 RCV003492308 RCV004802957 RCV004554616
NM_007294.4(BRCA1):c.2006T>C (p.Met669Thr)	SNV Germline	Chr17:43093525	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 1 Hereditary cancer-predisposing syndrome not specified Hereditary breast ovarian cancer syndrome Condition: not provided Familial cancer of breast	Criteria Provided Conflicting Classifications	CA001337	rs_80356895	14 SubmittersRCV000031023 RCV000130064 RCV000420884 RCV001472789 RCV001800318 RCV002250471
NM_007294.4(BRCA1):c.2060A>C (p.Gln687Pro)	SNV Germline	Chr17:43093471	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 1 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided not specified Fanconi anemia, complementation group S Pancreatic cancer, susceptibility to, 4 Breast-ovarian cancer, familial, susceptibility to, 1 BRCA1-related cancer predisposition	Criteria Provided Conflicting Classifications	CA001364	rs_28897680	13 SubmittersRCV000031024 RCV000047696 RCV000129968 RCV000587889 RCV002281723 RCV005016304 RCV004802958
NM_007294.4(BRCA1):c.212+1G>A	SNV Germline	Chr17:43106455	Pathogenic	Breast-ovarian cancer, familial, susceptibility to, 1 Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Breast and/or ovarian cancer Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 1 Familial cancer of breast Fanconi anemia, complementation group S Breast-ovarian cancer, familial, susceptibility to, 1	Reviewed By Expert Panel	CA001405	rs_80358042	18 SubmittersRCV000031027 RCV000505828 RCV000509688 RCV000496861 RCV000735528 RCV001171413 RCV005357166
NM_007294.4(BRCA1):c.2123C>A (p.Ser708Tyr)	SNV Germline	Chr17:43093408	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 1 Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome not specified BRCA1-related disorder Fanconi anemia, complementation group S	Criteria Provided Conflicting Classifications	CA001413	rs_80357182	17 SubmittersRCV000031028 RCV000129531 RCV000314335 RCV000709482 RCV001193139 RCV004758602 RCV005357167
NM_007294.4(BRCA1):c.213-11T>G	SNV Germline	Chr17:43104967	Pathogenic	Breast-ovarian cancer, familial, susceptibility to, 1 Hereditary breast ovarian cancer syndrome Condition: not provided Hereditary cancer-predisposing syndrome Familial cancer of breast Breast and/or ovarian cancer Fanconi anemia, complementation group S Breast-ovarian cancer, familial, susceptibility to, 1 Familial cancer of breast BRCA1-related cancer predisposition BRCA1-related disorder Inherited breast cancer and ovarian cancer	Criteria Provided Multiple Submitters No Conflicts	CA001424	rs_80358061	24 SubmittersRCV000031030 RCV000047725 RCV000074570 RCV000131898 RCV000469831 RCV000735531 RCV005394181 RCV004802959 RCV004758603 RCV005416026
NM_007294.4(BRCA1):c.213-12A>G	SNV Germline	Chr17:43104968	Pathogenic	Breast-ovarian cancer, familial, susceptibility to, 1 Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome not specified Ovarian neoplasm Breast and/or ovarian cancer Familial cancer of breast Fanconi anemia, complementation group S Breast-ovarian cancer, familial, susceptibility to, 1 Pancreatic cancer, susceptibility to, 4 Familial cancer of breast BRCA1-related disorder	Reviewed By Expert Panel	CA001426	rs_80358163	33 SubmittersRCV000031031 RCV000047726 RCV000131900 RCV000167772 RCV000505888 RCV000785201 RCV001270969 RCV002504839 RCV005246595 RCV004758604
NM_007294.4(BRCA1):c.2138C>G (p.Ser713Ter)	SNV Germline	Chr17:43093393	Pathogenic	Breast-ovarian cancer, familial, susceptibility to, 1 Hereditary breast ovarian cancer syndrome Condition: not provided Hereditary cancer-predisposing syndrome Familial cancer of breast Fanconi anemia, complementation group S Breast-ovarian cancer, familial, susceptibility to, 1 Pancreatic cancer, susceptibility to, 4 BRCA1-related cancer predisposition	Reviewed By Expert Panel	CA001436	rs_80357233	18 SubmittersRCV000031032 RCV000047730 RCV000074571 RCV000162851 RCV002477031 RCV004802960
NM_007294.4(BRCA1):c.2158G>T (p.Glu720Ter)	SNV Germline	Chr17:43093373	Pathogenic	Breast-ovarian cancer, familial, susceptibility to, 1 Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome	Reviewed By Expert Panel	CA001445	rs_80356875	10 SubmittersRCV000031034 RCV000162852 RCV000585721 RCV001386504
NM_007294.4(BRCA1):c.2299A>G (p.Ser767Gly)	SNV Germline	Chr17:43093232	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 1 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA001531	rs_80357194	12 SubmittersRCV000031042 RCV000047788 RCV000130067 RCV000485116 RCV003155044
NM_007294.4(BRCA1):c.2329T>G (p.Tyr777Asp)	SNV Germline	Chr17:43093202	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 1 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome not specified Condition: not provided BRCA1-related cancer predisposition	Criteria Provided Conflicting Classifications	CA001554	rs_397507199	11 SubmittersRCV000031044 RCV000213379 RCV000476108 RCV000418137 RCV001284388 RCV004802962
NM_007294.4(BRCA1):c.2368A>G (p.Thr790Ala)	SNV Germline	Chr17:43093163	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 1 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome not specified Breast and/or ovarian cancer Condition: not provided Malignant tumor of breast BRCA1-related disorder	Criteria Provided Conflicting Classifications	CA001580	rs_41286298	17 SubmittersRCV000031046 RCV000167808 RCV000131470 RCV000173843 RCV000735515 RCV000724699 RCV001353498 RCV004554619
NM_007294.4(BRCA1):c.2426A>G (p.Glu809Gly)	SNV Germline	Chr17:43093105	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 1 Hereditary cancer-predisposing syndrome Malignant tumor of breast Condition: not provided Hereditary breast ovarian cancer syndrome not specified	Criteria Provided Conflicting Classifications	CA001620	rs_397507201	13 SubmittersRCV000031049 RCV000164846 RCV000504369 RCV000589185 RCV001086610 RCV004700289
NM_007294.4(BRCA1):c.2447A>G (p.His816Arg)	SNV Germline	Chr17:43093084	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 1 Hereditary cancer-predisposing syndrome not specified Hereditary breast ovarian cancer syndrome Condition: not provided Breast and/or ovarian cancer BRCA1-related disorder	Criteria Provided Conflicting Classifications	CA001634	rs_80357108	17 SubmittersRCV000031051 RCV000131563 RCV000437338 RCV001086517 RCV001356358 RCV001798027 RCV004554620
NM_007294.4(BRCA1):c.2563C>T (p.Gln855Ter)	SNV Germline	Chr17:43092968	Pathogenic	Breast-ovarian cancer, familial, susceptibility to, 1 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided Familial cancer of breast Pancreatic cancer, susceptibility to, 4 Fanconi anemia, complementation group S Breast-ovarian cancer, familial, susceptibility to, 1	Reviewed By Expert Panel	CA001689	rs_80357131	13 SubmittersRCV000031056 RCV000047880 RCV000223464 RCV000657621 RCV002496473
NM_007294.4(BRCA1):c.2603C>G (p.Ser868Ter)	SNV Germline	Chr17:43092928	Pathogenic	Breast-ovarian cancer, familial, susceptibility to, 1 Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome BRCA1-related disorder	Reviewed By Expert Panel	CA001714	rs_80356925	16 SubmittersRCV000031058 RCV000162858 RCV000235126 RCV000496687 RCV004758607
NM_007294.4(BRCA1):c.2635G>T (p.Glu879Ter)	SNV Germline/somatic	Chr17:43092896	Pathogenic	Breast-ovarian cancer, familial, susceptibility to, 1 Hereditary breast ovarian cancer syndrome Condition: not provided Hereditary cancer-predisposing syndrome Breast and/or ovarian cancer Familial cancer of breast	Reviewed By Expert Panel	CA001729	rs_80357251	11 SubmittersRCV000031059 RCV000047906 RCV000235968 RCV000509886 RCV000769714 RCV002250472
NM_007294.4(BRCA1):c.2677A>T (p.Lys893Ter)	SNV Germline	Chr17:43092854	Pathogenic	Breast-ovarian cancer, familial, susceptibility to, 1 Hereditary breast ovarian cancer syndrome	Reviewed By Expert Panel	CA001754	rs_80357170	3 SubmittersRCV000031061 RCV000702700
NM_007294.4(BRCA1):c.2702T>C (p.Phe901Ser)	SNV Germline	Chr17:43092829	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 1 Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome	Criteria Provided Conflicting Classifications	CA001780	rs_397507202	9 SubmittersRCV000031063 RCV000221978 RCV001689580 RCV002513280
NM_007294.4(BRCA1):c.2710G>T (p.Glu904Ter)	SNV Germline	Chr17:43092821	Pathogenic	Breast-ovarian cancer, familial, susceptibility to, 1 Condition: not provided Hereditary breast ovarian cancer syndrome	Reviewed By Expert Panel	CA001786	rs_80357035	6 SubmittersRCV000031065 RCV001354425 RCV001387940
NM_007294.4(BRCA1):c.2714A>G (p.Gln905Arg)	SNV Germline	Chr17:43092817	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 1 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA001788	rs_397507203	6 SubmittersRCV000031066 RCV000637760 RCV001016383 RCV003736545
NM_007294.4(BRCA1):c.2726A>T (p.Asn909Ile)	SNV Germline	Chr17:43092805	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 1 Hereditary cancer-predisposing syndrome not specified Breast neoplasm Condition: not provided Hereditary breast ovarian cancer syndrome Malignant tumor of breast Familial cancer of breast	Criteria Provided Conflicting Classifications	CA001795	rs_80357127	19 SubmittersRCV000031067 RCV000132325 RCV000235335 RCV000240745 RCV000657080 RCV001083429 RCV001355281 RCV002250473
NM_007294.4(BRCA1):c.2798G>A (p.Gly933Asp)	SNV Germline	Chr17:43092733	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 1 Hereditary breast ovarian cancer syndrome Condition: not provided Hereditary cancer-predisposing syndrome not specified	Criteria Provided Conflicting Classifications	CA001834	rs_80356941	10 SubmittersRCV000031071 RCV000047971 RCV000256124 RCV000561212 RCV005417440
NM_007294.4(BRCA1):c.2934T>G (p.Tyr978Ter)	SNV Germline	Chr17:43092597	Pathogenic	Breast-ovarian cancer, familial, susceptibility to, 1 Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Malignant tumor of breast	Reviewed By Expert Panel	CA001915	rs_80357115	15 SubmittersRCV000031074 RCV000048017 RCV000162860 RCV000195361 RCV001353980
NM_007294.4(BRCA1):c.2963C>T (p.Ser988Leu)	SNV Germline	Chr17:43092568	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 1 Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome BRCA1-related cancer predisposition	Criteria Provided Conflicting Classifications	CA001928	rs_397507206	10 SubmittersRCV000031075 RCV000656788 RCV000776172 RCV001079126 RCV004802969
NM_007294.4(BRCA1):c.302-2A>C	SNV Germline	Chr17:43104263	Pathogenic/Likely pathogenic	Breast-ovarian cancer, familial, susceptibility to, 1 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Gastric cancer Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA001979	rs_80358011	9 SubmittersRCV000031081 RCV001186081 RCV001377524 RCV003162263 RCV003476906
NM_007294.4(BRCA1):c.302-3C>G	SNV Germline	Chr17:43104264	Pathogenic/Likely pathogenic	Breast-ovarian cancer, familial, susceptibility to, 1 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA001987	rs_80358051	8 SubmittersRCV000031082 RCV000219090 RCV001377525 RCV001723593
NM_007294.4(BRCA1):c.3055A>G (p.Ile1019Val)	SNV Germline	Chr17:43092476	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 1 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA002008	rs_80357311	15 SubmittersRCV000031085 RCV000048061 RCV000132486 RCV000589797 RCV005237436
NM_007294.4(BRCA1):c.3112G>T (p.Glu1038Ter)	SNV Germline	Chr17:43092419	Pathogenic	Breast-ovarian cancer, familial, susceptibility to, 1 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome	Reviewed By Expert Panel	CA002035	rs_80357161	7 SubmittersRCV000031090 RCV000131907 RCV000496578
NM_007294.4(BRCA1):c.3185G>T (p.Gly1062Val)	SNV Germline	Chr17:43092346	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 1 Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome Malignant tumor of breast	Criteria Provided Conflicting Classifications	CA002075	rs_397507211	7 SubmittersRCV000031094 RCV000130834 RCV000485820 RCV001042144 RCV001354784
NM_007294.4(BRCA1):c.3247A>C (p.Met1083Leu)	SNV Germline	Chr17:43092284	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 1 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided Fanconi anemia, complementation group S Breast-ovarian cancer, familial, susceptibility to, 1 Familial cancer of breast	Criteria Provided Conflicting Classifications	CA002098	rs_397507213	11 SubmittersRCV000031098 RCV000164913 RCV000559848 RCV000590619 RCV005357171
NM_007294.4(BRCA1):c.3352C>T (p.Gln1118Ter)	SNV Germline/somatic	Chr17:43092179	Pathogenic	Breast-ovarian cancer, familial, susceptibility to, 1 Hereditary cancer-predisposing syndrome Condition: not provided Ovarian neoplasm Hereditary breast ovarian cancer syndrome	Reviewed By Expert Panel	CA002172	rs_397507215	9 SubmittersRCV000031105 RCV000167367 RCV000578536 RCV000785370 RCV001290608
NM_007294.4(BRCA1):c.3354G>T (p.Gln1118His)	SNV Germline	Chr17:43092177	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 1 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA002175	rs_80357334	7 SubmittersRCV000031106 RCV000048160 RCV000164761 RCV000586936
NM_007294.4(BRCA1):c.3362A>G (p.Asn1121Ser)	SNV Germline	Chr17:43092169	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 1 Hereditary breast ovarian cancer syndrome not specified Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA002182	rs_80356919	14 SubmittersRCV000031108 RCV000048166 RCV000425661 RCV000569556 RCV001697097
NM_007294.4(BRCA1):c.3389C>G (p.Ser1130Ter)	SNV Germline	Chr17:43092142	Pathogenic	Breast-ovarian cancer, familial, susceptibility to, 1 Condition: not provided Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome	Reviewed By Expert Panel	CA002190	rs_80357405	11 SubmittersRCV000031109 RCV000236909 RCV000496618 RCV001180645
NM_007294.4(BRCA1):c.3400G>T (p.Glu1134Ter)	SNV Germline	Chr17:43092131	Pathogenic	Breast-ovarian cancer, familial, susceptibility to, 1 Condition: not provided Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Inherited breast cancer and ovarian cancer	Reviewed By Expert Panel	CA002199	rs_80357018	20 SubmittersRCV000031110 RCV000048178 RCV000203638 RCV000509963 RCV005252700
NM_007294.4(BRCA1):c.3652A>G (p.Ser1218Gly)	SNV Germline	Chr17:43091879	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 1 Hereditary cancer-predisposing syndrome not specified Hereditary breast ovarian cancer syndrome Condition: not provided BRCA1-related disorder	Criteria Provided Conflicting Classifications	CA002339	rs_80356894	8 SubmittersRCV000031117 RCV000166540 RCV000587400 RCV000686085 RCV002477032 RCV004554625
NM_007294.4(BRCA1):c.3689T>G (p.Leu1230Ter)	SNV Germline	Chr17:43091842	Pathogenic	Breast-ovarian cancer, familial, susceptibility to, 1 Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome	Reviewed By Expert Panel	CA002359	rs_80357162	8 SubmittersRCV000112154 RCV000580523 RCV000985406 RCV001384592
NM_007294.4(BRCA1):c.3691T>C (p.Phe1231Leu)	SNV Germline	Chr17:43091840	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 1 not specified Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided Fanconi anemia, complementation group S BRCA1-related disorder	Criteria Provided Conflicting Classifications	CA002361	rs_41293451	13 SubmittersRCV000031122 RCV000048282 RCV000131521 RCV000195391 RCV001281713 RCV005357172 RCV004554626
NM_007294.4(BRCA1):c.3782T>C (p.Leu1261Ser)	SNV Germline	Chr17:43091749	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 1 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome BRCA1-related cancer predisposition Condition: not provided	Criteria Provided Conflicting Classifications	CA002436	rs_397507219	9 SubmittersRCV000031129 RCV000129886 RCV000709473 RCV004802975 RCV004998116
NM_007294.4(BRCA1):c.3868A>T (p.Lys1290Ter)	SNV Germline	Chr17:43091663	Pathogenic	Breast-ovarian cancer, familial, susceptibility to, 1 Hereditary breast ovarian cancer syndrome Breast and/or ovarian cancer Hereditary cancer-predisposing syndrome Condition: not provided	Reviewed By Expert Panel	CA002492	rs_80357254	11 SubmittersRCV000031135 RCV000048361 RCV001271016 RCV002354175 RCV004700290
NM_007294.4(BRCA1):c.3877G>C (p.Ala1293Pro)	SNV Germline	Chr17:43091654	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 1 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Pancreatic cancer, susceptibility to, 4 Fanconi anemia, complementation group S Breast-ovarian cancer, familial, susceptibility to, 1 Condition: not provided BRCA1-related cancer predisposition	Criteria Provided Conflicting Classifications	CA002499	rs_397507223	9 SubmittersRCV000031136 RCV000222822 RCV000688186 RCV005016308 RCV006258934 RCV004802976
NM_007294.4(BRCA1):c.3937C>T (p.Gln1313Ter)	SNV Germline	Chr17:43091594	Pathogenic	Breast-ovarian cancer, familial, susceptibility to, 1 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided not specified	Reviewed By Expert Panel	CA002527	rs_80357318	17 SubmittersRCV000031137 RCV000048386 RCV000131882 RCV000482757 RCV001002640
NM_007294.4(BRCA1):c.398G>A (p.Arg133His)	SNV Germline	Chr17:43104165	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 1 Hereditary cancer-predisposing syndrome not specified Malignant tumor of breast Condition: not provided Hereditary breast ovarian cancer syndrome	Criteria Provided Conflicting Classifications	CA002555	rs_80357357	11 SubmittersRCV000031138 RCV000128888 RCV000443460 RCV001353645 RCV001719703 RCV001479032
NM_007294.4(BRCA1):c.3991C>T (p.Gln1331Ter)	SNV Germline	Chr17:43091540	Pathogenic	Breast-ovarian cancer, familial, susceptibility to, 1 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome	Reviewed By Expert Panel	CA002556	rs_397507224	5 SubmittersRCV000031139 RCV001852618 RCV002354176
NM_007294.4(BRCA1):c.4015G>T (p.Glu1339Ter)	SNV Germline	Chr17:43091516	Pathogenic	Breast-ovarian cancer, familial, susceptibility to, 1 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided	Reviewed By Expert Panel	CA002568	rs_80357021	10 SubmittersRCV000031140 RCV000162870 RCV000587615 RCV001555283
NM_007294.4(BRCA1):c.4073A>G (p.Glu1358Gly)	SNV Germline	Chr17:43091458	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 1 not specified Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome	Criteria Provided Conflicting Classifications	CA002603	rs_397507225	13 SubmittersRCV000031143 RCV000481308 RCV000584349 RCV000766672 RCV000637566
NM_007294.4(BRCA1):c.4075C>G (p.Gln1359Glu)	SNV Germline	Chr17:43091456	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 1 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome	Criteria Provided Conflicting Classifications	CA002605	rs_80357456	4 SubmittersRCV000031144 RCV000565627 RCV000637817
NM_007294.4(BRCA1):c.4083G>A (p.Met1361Ile)	SNV Germline	Chr17:43091448	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 1 Hereditary cancer-predisposing syndrome Malignant tumor of breast Hereditary breast ovarian cancer syndrome Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA002610	rs_374192364	8 SubmittersRCV000031145 RCV000129891 RCV000478992 RCV000637459 RCV000766669 RCV001818194
NM_007294.4(BRCA1):c.4097-1G>A	SNV Germline	Chr17:43091033	Pathogenic	Breast-ovarian cancer, familial, susceptibility to, 1 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome	Reviewed By Expert Panel	CA002624	rs_80358070	7 SubmittersRCV000031148 RCV001381004 RCV002321493
NM_007294.4(BRCA1):c.4117G>T (p.Glu1373Ter)	SNV Germline	Chr17:43091012	Pathogenic	Breast-ovarian cancer, familial, susceptibility to, 1 Condition: not provided Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Breast and/or ovarian cancer Malignant tumor of breast BRCA1-related disorder	Reviewed By Expert Panel	CA002641	rs_80357259	18 SubmittersRCV000031150 RCV000074589 RCV000048449 RCV000162872 RCV000735478 RCV001353510 RCV004730860
NM_007294.4(BRCA1):c.4127C>G (p.Thr1376Arg)	SNV Germline	Chr17:43091002	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 1 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided not specified Malignant tumor of breast BRCA1-related cancer predisposition	Criteria Provided Conflicting Classifications	CA002646	rs_80356986	12 SubmittersRCV000031152 RCV000048453 RCV000132420 RCV000586810 RCV000484416 RCV001353468 RCV004802980
NM_007294.4(BRCA1):c.4148C>G (p.Ser1383Ter)	SNV Germline	Chr17:43090981	Pathogenic	Breast-ovarian cancer, familial, susceptibility to, 1 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome	Reviewed By Expert Panel	CA002657	rs_80357071	7 SubmittersRCV000112270 RCV000213696 RCV001383858
NM_007294.4(BRCA1):c.4181C>T (p.Thr1394Ile)	SNV Germline	Chr17:43090948	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 1 Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome not specified BRCA1-related cancer predisposition	Criteria Provided Conflicting Classifications	CA002673	rs_397507226	8 SubmittersRCV000031154 RCV000164912 RCV000236566 RCV000530171 RCV003226170 RCV004802981
NM_007294.4(BRCA1):c.427G>T (p.Glu143Ter)	SNV Germline	Chr17:43104136	Pathogenic	Breast-ovarian cancer, familial, susceptibility to, 1 Hereditary breast ovarian cancer syndrome Condition: not provided Hereditary cancer-predisposing syndrome Familial cancer of breast BRCA1-related cancer predisposition	Reviewed By Expert Panel	CA002746	rs_80356991	28 SubmittersRCV000031162 RCV000048511 RCV000074592 RCV000162876 RCV000465234 RCV004802983
NM_007294.4(BRCA1):c.429A>C (p.Glu143Asp)	SNV Germline	Chr17:43104134	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 1 Hereditary breast ovarian cancer syndrome Condition: not provided Hereditary cancer-predisposing syndrome not specified	Criteria Provided Conflicting Classifications	CA002755	rs_397507228	8 SubmittersRCV000031163 RCV000229242 RCV000481623 RCV000571835 RCV005237437
NM_007294.4(BRCA1):c.4357+1G>A	SNV Germline	Chr17:43082403	Pathogenic	Breast-ovarian cancer, familial, susceptibility to, 1 Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome BRCA1-related cancer predisposition	Reviewed By Expert Panel	CA002787	rs_80358027	24 SubmittersRCV000031165 RCV000048532 RCV000131879 RCV000167804 RCV004802984
NM_007294.4(BRCA1):c.4357+6T>C	SNV Germline	Chr17:43082398	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 1 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA002793	rs_80358143	11 SubmittersRCV000031166 RCV000767300 RCV000775143 RCV004696642
NM_007294.4(BRCA1):c.446A>C (p.Glu149Ala)	SNV Germline	Chr17:43099876	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 1 Breast neoplasm Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 1 Fanconi anemia, complementation group S Pancreatic cancer, susceptibility to, 4 Familial cancer of breast Malignant tumor of breast not specified BRCA1-related disorder	Criteria Provided Conflicting Classifications	CA002865	rs_397507233	15 SubmittersRCV000031175 RCV000240737 RCV000219296 RCV000458634 RCV000479398 RCV000764128 RCV001357250 RCV002267803 RCV004758612
NM_007294.4(BRCA1):c.4484+1G>A	SNV Germline	Chr17:43076487	Pathogenic	Breast-ovarian cancer, familial, susceptibility to, 1 Hereditary breast ovarian cancer syndrome Familial cancer of breast Condition: not provided Hereditary cancer-predisposing syndrome Malignant tumor of breast BRCA1-related cancer predisposition	Criteria Provided Multiple Submitters No Conflicts	CA002873	rs_80358063	17 SubmittersRCV000031177 RCV000048572 RCV000585660 RCV000521426 RCV000573576 RCV001354007 RCV004802985
NM_007294.4(BRCA1):c.4484G>A (p.Arg1495Lys)	SNV Germline	Chr17:43076488	Pathogenic	Breast-ovarian cancer, familial, susceptibility to, 1 Hereditary cancer-predisposing syndrome Condition: not provided Malignant tumor of breast Hereditary breast ovarian cancer syndrome Familial cancer of breast	Criteria Provided Multiple Submitters No Conflicts	CA002875	rs_80357389	17 SubmittersRCV000031178 RCV000162878 RCV000479568 RCV001357179 RCV001389264 RCV002250476
NM_007294.4(BRCA1):c.4484G>T (p.Arg1495Met)	SNV Germline	Chr17:43076488	Pathogenic	Breast-ovarian cancer, familial, susceptibility to, 1 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided not specified Familial cancer of breast Breast and/or ovarian cancer Breast-ovarian cancer, familial, susceptibility to, 1 Hereditary breast ovarian cancer syndrome Fanconi anemia, complementation group S Pancreatic cancer, susceptibility to, 4 Breast-ovarian cancer, familial, susceptibility to, 1	Criteria Provided Multiple Submitters No Conflicts	CA002876	rs_80357389	29 SubmittersRCV000031179 RCV000048576 RCV000131886 RCV000159992 RCV000238601 RCV000462940 RCV000770739 RCV001171414 RCV005016310
NM_007294.4(BRCA1):c.4485-8C>T	SNV Germline	Chr17:43074529	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 1 Hereditary breast ovarian cancer syndrome not specified Hereditary cancer-predisposing syndrome Condition: not provided BRCA1-related cancer predisposition	Criteria Provided Conflicting Classifications	CA002880	rs_397507234	11 SubmittersRCV000031180 RCV000229987 RCV000508687 RCV000584536 RCV001358004 RCV004802986
NM_007294.4(BRCA1):c.4638T>G (p.Asp1546Glu)	SNV Germline	Chr17:43074368	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 1 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA002938	rs_397507235	5 SubmittersRCV000031182 RCV000774940 RCV000941372 RCV001719705
NM_007294.4(BRCA1):c.4675G>A (p.Glu1559Lys)	SNV Germline	Chr17:43074331	Pathogenic	Breast-ovarian cancer, familial, susceptibility to, 1 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided	Reviewed By Expert Panel	CA002963	rs_80356988	17 SubmittersRCV000031185 RCV000131823 RCV000496604 RCV000482921
NM_007294.4(BRCA1):c.4675G>C (p.Glu1559Gln)	SNV Germline	Chr17:43074331	Pathogenic/Likely pathogenic	Breast-ovarian cancer, familial, susceptibility to, 1 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided Inherited breast cancer and ovarian cancer	Criteria Provided Multiple Submitters No Conflicts	CA002964	rs_80356988	14 SubmittersRCV000031186 RCV000131825 RCV001379224 RCV001811228 RCV006277664
NM_007294.4(BRCA1):c.4689C>G (p.Tyr1563Ter)	SNV Germline	Chr17:43071225	Pathogenic	Breast-ovarian cancer, familial, susceptibility to, 1 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided Familial cancer of breast Ovarian neoplasm BRCA1-related cancer predisposition BRCA1-related disorder	Reviewed By Expert Panel	CA002979	rs_80357433	43 SubmittersRCV000031188 RCV000131835 RCV000048631 RCV000159994 RCV000464295 RCV000785416 RCV004802987 RCV004554629
NM_007294.4(BRCA1):c.4868C>G (p.Ala1623Gly)	SNV Germline	Chr17:43071046	Pathogenic/Likely pathogenic	Breast-ovarian cancer, familial, susceptibility to, 1 Condition: not provided Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome not specified Malignant tumor of breast Inherited ovarian cancer (without breast cancer)	Criteria Provided Multiple Submitters No Conflicts	CA003058	rs_80356862	19 SubmittersRCV000031195 RCV000074598 RCV000048680 RCV000131686 RCV000496627 RCV001353579 RCV006277665
NM_007294.4(BRCA1):c.4986+1G>T	SNV Germline	Chr17:43070927	Pathogenic	Breast-ovarian cancer, familial, susceptibility to, 1 Hereditary breast ovarian cancer syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA003119	rs_80358162	6 SubmittersRCV000031199 RCV001380795 RCV003476909
NM_007294.4(BRCA1):c.4986+4A>C	SNV Germline	Chr17:43070924	Pathogenic/Likely pathogenic	Breast-ovarian cancer, familial, susceptibility to, 1 Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome	Criteria Provided Multiple Submitters No Conflicts	CA003122	rs_80358087	11 SubmittersRCV000031200 RCV000480773 RCV000570191 RCV000496440
NM_007294.4(BRCA1):c.4986+6T>C	SNV Germline	Chr17:43070922	Pathogenic/Likely pathogenic	Breast-ovarian cancer, familial, susceptibility to, 1 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided Breast and/or ovarian cancer Familial cancer of breast Fanconi anemia, complementation group S Breast-ovarian cancer, familial, susceptibility to, 1 Fanconi anemia, complementation group S Breast-ovarian cancer, familial, susceptibility to, 1 Pancreatic cancer, susceptibility to, 4	Criteria Provided Multiple Submitters No Conflicts	CA003127	rs_80358086	26 SubmittersRCV000031201 RCV000048724 RCV000131837 RCV000159997 RCV000735559 RCV005394183 RCV005016311
NM_007294.4(BRCA1):c.5066T>G (p.Met1689Arg)	SNV Germline	Chr17:43067616	Pathogenic/Likely pathogenic	Breast-ovarian cancer, familial, susceptibility to, 1 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided BRCA1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA003182	rs_80357061	13 SubmittersRCV000031206 RCV000048755 RCV000163023 RCV001588834 RCV004554632
NM_007294.4(BRCA1):c.5068A>T (p.Lys1690Ter)	SNV Germline	Chr17:43067614	Pathogenic	Breast-ovarian cancer, familial, susceptibility to, 1 Hereditary breast ovarian cancer syndrome Condition: not provided Hereditary cancer-predisposing syndrome	Reviewed By Expert Panel	CA003184	rs_397507239	14 SubmittersRCV000031207 RCV001384446 RCV001529865 RCV002257366
NM_007294.4(BRCA1):c.5072C>A (p.Thr1691Lys)	SNV Germline	Chr17:43067610	Pathogenic/Likely pathogenic	Breast-ovarian cancer, familial, susceptibility to, 1 Hereditary breast ovarian cancer syndrome Condition: not provided Hereditary cancer-predisposing syndrome Familial cancer of breast	Criteria Provided Multiple Submitters No Conflicts	CA003188	rs_80357034	9 SubmittersRCV000031208 RCV000048760 RCV000485950 RCV000574915 RCV002250478
NM_007294.4(BRCA1):c.5072C>T (p.Thr1691Ile)	SNV Germline	Chr17:43067610	Pathogenic/Likely pathogenic	Breast-ovarian cancer, familial, susceptibility to, 1 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided Familial cancer of breast Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 1 BRCA1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA003190	rs_80357034	13 SubmittersRCV000031209 RCV000048762 RCV000509720 RCV000508659 RCV002247402 RCV001171419 RCV004554633
NM_007294.4(BRCA1):c.5074+1G>A	SNV Germline	Chr17:43067607	Pathogenic	Breast-ovarian cancer, familial, susceptibility to, 1 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided Malignant tumor of breast Breast-ovarian cancer, familial, susceptibility to, 1 Fanconi anemia, complementation group S Pancreatic cancer, susceptibility to, 4 Inherited breast cancer and ovarian cancer	Reviewed By Expert Panel	CA003193	rs_80358053	19 SubmittersRCV000031210 RCV000048764 RCV000131833 RCV000481404 RCV001353952 RCV004795939 RCV006547506
NM_007294.4(BRCA1):c.5074+1G>T	SNV Germline	Chr17:43067607	Pathogenic	Breast-ovarian cancer, familial, susceptibility to, 1 Condition: not provided Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome	Reviewed By Expert Panel	CA003194	rs_80358053	12 SubmittersRCV000031211 RCV000482341 RCV000496776 RCV000772123
NM_007294.4(BRCA1):c.5074+2T>C	SNV Germline	Chr17:43067606	Pathogenic	Breast-ovarian cancer, familial, susceptibility to, 1 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Malignant tumor of breast	Reviewed By Expert Panel	CA003196	rs_80358089	14 SubmittersRCV000031212 RCV000465250 RCV000563483 RCV001353976
NM_007294.4(BRCA1):c.5074G>A (p.Asp1692Asn)	SNV Germline/somatic	Chr17:43067608	Pathogenic/Likely pathogenic	Breast-ovarian cancer, familial, susceptibility to, 1 Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome Malignant tumor of urinary bladder	Criteria Provided Multiple Submitters No Conflicts	CA003201	rs_80187739	16 SubmittersRCV000031213 RCV000217586 RCV000255870 RCV000496924 RCV003332088
NM_007294.4(BRCA1):c.5074G>C (p.Asp1692His)	SNV Germline	Chr17:43067608	Pathogenic	Breast-ovarian cancer, familial, susceptibility to, 1 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided Ovarian neoplasm Malignant tumor of breast	Reviewed By Expert Panel	CA003202	rs_80187739	19 SubmittersRCV000031214 RCV000048768 RCV000220578 RCV000256114 RCV000785420 RCV001353883
NM_007294.4(BRCA1):c.5075-6C>A	SNV Germline	Chr17:43063957	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 1 Condition: not provided Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome not specified	Criteria Provided Conflicting Classifications	CA003213	rs_397507240	9 SubmittersRCV000031215 RCV000254981 RCV000416553 RCV000774932 RCV003987335
NM_007294.4(BRCA1):c.5090G>A (p.Cys1697Tyr)	SNV Germline	Chr17:43063936	Likely pathogenic	Breast-ovarian cancer, familial, susceptibility to, 1 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Breast and/or ovarian cancer Malignant tumor of breast Condition: not provided BRCA1-related cancer predisposition Breast-ovarian cancer, familial, susceptibility to, 1 Fanconi anemia, complementation group S Pancreatic cancer, susceptibility to, 4	Reviewed By Expert Panel	CA003230	rs_397507241	11 SubmittersRCV000031216 RCV000129997 RCV000464859 RCV000735461 RCV001353519 RCV003318545 RCV004566763 RCV005016312
NM_007294.4(BRCA1):c.5096G>A (p.Arg1699Gln)	SNV Germline	Chr17:43063930	Pathogenic	Breast-ovarian cancer, familial, susceptibility to, 1 Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Ovarian neoplasm Breast and/or ovarian cancer Familial cancer of breast Breast-ovarian cancer, familial, susceptibility to, 1 Fanconi anemia, complementation group S Pancreatic cancer, susceptibility to, 4 Familial cancer of breast Gastric cancer BRCA1-related cancer predisposition Breast-ovarian cancer, familial, susceptibility to, 1 Lynch syndrome 1 BRCA1-related disorder Fanconi anemia, complementation group S	Reviewed By Expert Panel	CA003235	rs_41293459	53 SubmittersRCV000031217 RCV000048790 RCV000131564 RCV000195350 RCV000785422 RCV000735446 RCV002250479 RCV002496477 RCV003162265 RCV004802991 RCV005861026 RCV004554634 RCV005357178
NM_007294.4(BRCA1):c.5114T>C (p.Leu1705Pro)	SNV Germline	Chr17:43063912	Pathogenic/Likely pathogenic	Breast-ovarian cancer, familial, susceptibility to, 1 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA003248	rs_397507242	4 SubmittersRCV000031218 RCV001058708 RCV001023567
NM_007294.4(BRCA1):c.5117G>A (p.Gly1706Glu)	SNV Germline	Chr17:43063909	Pathogenic	Breast-ovarian cancer, familial, susceptibility to, 1 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided Breast and/or ovarian cancer	Reviewed By Expert Panel	CA003249	rs_80356860	18 SubmittersRCV000031219 RCV000219187 RCV000221607 RCV000256122 RCV001170590
NM_007294.4(BRCA1):c.5122G>A (p.Ala1708Thr)	SNV Germline	Chr17:43063904	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 1 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Fanconi anemia, complementation group S Condition: not provided	Criteria Provided Conflicting Classifications	CA003251	rs_397507243	6 SubmittersRCV000031220 RCV000198404 RCV000223569 RCV005357179 RCV006258935
NM_007294.4(BRCA1):c.5123C>T (p.Ala1708Val)	SNV Germline	Chr17:43063903	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 1 Hereditary breast ovarian cancer syndrome Breast and/or ovarian cancer Hereditary cancer-predisposing syndrome not specified Condition: not provided Malignant tumor of breast Familial cancer of breast BRCA1-related cancer predisposition BRCA1-related disorder Breast-ovarian cancer, familial, susceptibility to, 1 Fanconi anemia, complementation group S Pancreatic cancer, susceptibility to, 4	Criteria Provided Conflicting Classifications	CA003253	rs_28897696	24 SubmittersRCV000031221 RCV000048803 RCV000148393 RCV000131166 RCV000212194 RCV000589633 RCV001353479 RCV002250480 RCV004802992 RCV004758614 RCV005016313
NM_007294.4(BRCA1):c.5152+1G>C	SNV Germline	Chr17:43063873	Pathogenic	Breast-ovarian cancer, familial, susceptibility to, 1 Hereditary breast ovarian cancer syndrome Condition: not provided Hereditary cancer-predisposing syndrome BRCA1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA003280	rs_80358094	14 SubmittersRCV000031223 RCV000225766 RCV000759552 RCV001023623 RCV004554635
NM_007294.4(BRCA1):c.5153-1G>C	SNV Germline	Chr17:43063374	Pathogenic	Breast-ovarian cancer, familial, susceptibility to, 1 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided	Reviewed By Expert Panel	CA003297	rs_80358137	15 SubmittersRCV000031224 RCV000048827 RCV002336099 RCV002267804
NM_007294.4(BRCA1):c.5179A>T (p.Lys1727Ter)	SNV Germline	Chr17:43063347	Pathogenic	Breast-ovarian cancer, familial, susceptibility to, 1 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided	Reviewed By Expert Panel	CA003327	rs_80357347	17 SubmittersRCV000031226 RCV000048844 RCV000131827 RCV000237069
NM_007294.4(BRCA1):c.5191G>T (p.Glu1731Ter)	SNV Germline	Chr17:43063335	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 1	Criteria Provided Multiple Submitters No Conflicts	CA10591159	rs_397507244	6 SubmittersRCV000571448 RCV000698353 RCV001076151
NM_007294.4(BRCA1):c.5194-2A>G	SNV Germline	Chr17:43057137	Pathogenic/Likely pathogenic	Breast-ovarian cancer, familial, susceptibility to, 1 Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome Malignant tumor of breast Breast and/or ovarian cancer Familial cancer of breast	Criteria Provided Multiple Submitters No Conflicts	CA003347	rs_80358069	17 SubmittersRCV000031228 RCV000131860 RCV000256055 RCV000496913 RCV001353945 RCV001798033 RCV002250481
NM_007294.4(BRCA1):c.5207T>C (p.Val1736Ala)	SNV Germline	Chr17:43057122	Pathogenic	Breast-ovarian cancer, familial, susceptibility to, 1 Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Fanconi anemia, complementation group S Fanconi anemia, complementation group S Familial cancer of breast Breast-ovarian cancer, familial, susceptibility to, 1	Reviewed By Expert Panel	CA003357	rs_45553935	24 SubmittersRCV000031229 RCV000048857 RCV000131291 RCV000195366 RCV000585878 RCV005357181
NM_007294.4(BRCA1):c.5242G>T (p.Gly1748Cys)	SNV Germline	Chr17:43057087	Likely pathogenic	Breast-ovarian cancer, familial, susceptibility to, 1 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided BRCA1-related cancer predisposition	Reviewed By Expert Panel	CA003383	rs_397507245	6 SubmittersRCV000031231 RCV000509724 RCV000473758 RCV000487391 RCV005628785
NM_007294.4(BRCA1):c.5277+1G>A	SNV Germline	Chr17:43057051	Pathogenic	Breast-ovarian cancer, familial, susceptibility to, 1 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided not specified Breast and/or ovarian cancer Breast-ovarian cancer, familial, susceptibility to, 1 Hereditary breast ovarian cancer syndrome Malignant tumor of breast Breast-ovarian cancer, familial, susceptibility to, 1 Fanconi anemia, complementation group S Pancreatic cancer, susceptibility to, 4 Breast-ovarian cancer, familial, susceptibility to, 1 Fanconi anemia, complementation group S Familial cancer of breast	Reviewed By Expert Panel	CA003419	rs_80358150	32 SubmittersRCV000031235 RCV000074601 RCV000131865 RCV000235135 RCV000507129 RCV000735562 RCV001171438 RCV001353526 RCV005016314 RCV005357182
NM_007294.4(BRCA1):c.5297T>G (p.Ile1766Ser)	SNV Germline	Chr17:43051098	Pathogenic	Breast-ovarian cancer, familial, susceptibility to, 1 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided	Reviewed By Expert Panel	CA003452	rs_80357463	13 SubmittersRCV000031237 RCV000048915 RCV000218342 RCV001284552
NM_007294.4(BRCA1):c.5346G>A (p.Trp1782Ter)	SNV Germline	Chr17:43049181	Pathogenic	Breast-ovarian cancer, familial, susceptibility to, 1 Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome Malignant tumor of breast	Reviewed By Expert Panel	CA003514	rs_80357284	21 SubmittersRCV000031239 RCV000131866 RCV000256177 RCV000496476 RCV001357644
NM_007294.4(BRCA1):c.5348T>C (p.Met1783Thr)	SNV Germline	Chr17:43049179	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 1 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Breast neoplasm Condition: not provided Breast and/or ovarian cancer Malignant tumor of breast not specified Hereditary cancer Inherited breast cancer and ovarian cancer	Criteria Provided Conflicting Classifications	CA003516	rs_55808233	20 SubmittersRCV000031240 RCV000129758 RCV000167822 RCV000414204 RCV000585920 RCV000735500 RCV001353920 RCV001818195 RCV003492309 RCV006277666
NM_007294.4(BRCA1):c.5363G>T (p.Gly1788Val)	SNV Germline	Chr17:43049164	Pathogenic	Breast-ovarian cancer, familial, susceptibility to, 1 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided not specified	Reviewed By Expert Panel	CA003530	rs_80357069	14 SubmittersRCV000031241 RCV000048961 RCV000162885 RCV000235698 RCV001002191
NM_007294.4(BRCA1):c.5387C>A (p.Ser1796Ter)	SNV Germline	Chr17:43049140	Pathogenic	Breast-ovarian cancer, familial, susceptibility to, 1 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided	Reviewed By Expert Panel	CA003546	rs_80357055	9 SubmittersRCV000031244 RCV000048970 RCV000162886 RCV000522547
NM_007294.4(BRCA1):c.53T>C (p.Met18Thr)	SNV Germline	Chr17:43124044	Pathogenic	Breast-ovarian cancer, familial, susceptibility to, 1 Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome Inherited ovarian cancer (without breast cancer)	Reviewed By Expert Panel	CA003550	rs_80356929	21 SubmittersRCV000031245 RCV000131693 RCV000212154 RCV001253789 RCV005237438
NM_007294.4(BRCA1):c.5406+1G>A	SNV Germline	Chr17:43049120	Pathogenic	Breast-ovarian cancer, familial, susceptibility to, 1 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome	Criteria Provided Multiple Submitters No Conflicts	CA003554	rs_80358028	6 SubmittersRCV000031247 RCV002345259 RCV005089326
NM_007294.4(BRCA1):c.5406+5G>T	SNV Germline	Chr17:43049116	Pathogenic/Likely pathogenic	Breast-ovarian cancer, familial, susceptibility to, 1 Condition: not provided Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA003561	rs_80358073	10 SubmittersRCV000031248 RCV000160008 RCV000476190 RCV000562618
NM_007294.4(BRCA1):c.5408G>C (p.Gly1803Ala)	SNV Germline	Chr17:43047702	Pathogenic/Likely pathogenic	Breast-ovarian cancer, familial, susceptibility to, 1 Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome	Criteria Provided Multiple Submitters No Conflicts	CA003574	rs_80357149	8 SubmittersRCV000031249 RCV001024053 RCV000985440 RCV001326886
NM_007294.4(BRCA1):c.5434C>G (p.Pro1812Ala)	SNV Germline	Chr17:43047676	Pathogenic/Likely pathogenic	Breast-ovarian cancer, familial, susceptibility to, 1 Condition: not provided Hereditary cancer-predisposing syndrome not specified Hereditary breast ovarian cancer syndrome Fanconi anemia, complementation group S	Criteria Provided Multiple Submitters No Conflicts	CA003596	rs_1800751	16 SubmittersRCV000031251 RCV000484398 RCV000574861 RCV000496797 RCV001390965 RCV005357183
NM_007294.4(BRCA1):c.5453A>G (p.Asp1818Gly)	SNV Germline	Chr17:43047657	Pathogenic/Likely pathogenic	Breast-ovarian cancer, familial, susceptibility to, 1 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Breast and/or ovarian cancer BRCA1-related cancer predisposition	Criteria Provided Multiple Submitters No Conflicts	CA003605	rs_80357477	12 SubmittersRCV000031253 RCV000215390 RCV000257937 RCV001095362 RCV004802994
NM_007294.4(BRCA1):c.5467+1G>A	SNV Germline	Chr17:43047642	Pathogenic	Breast-ovarian cancer, familial, susceptibility to, 1 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA003610	rs_80358145	13 SubmittersRCV000031254 RCV000049003 RCV000162888 RCV000430282
NM_007294.4(BRCA1):c.547+2T>A	SNV Germline	Chr17:43099773	Pathogenic	Breast-ovarian cancer, familial, susceptibility to, 1 Hereditary breast ovarian cancer syndrome Condition: not provided Hereditary cancer-predisposing syndrome Breast and/or ovarian cancer	Reviewed By Expert Panel	CA003636	rs_80358047	18 SubmittersRCV000031255 RCV000034759 RCV000481282 RCV000563139 RCV003149593
NM_007294.4(BRCA1):c.548-3T>C	SNV Germline	Chr17:43097292	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 1 Hereditary breast ovarian cancer syndrome Condition: not provided Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA003654	rs_397507252	8 SubmittersRCV000031258 RCV000473116 RCV000482750 RCV000771276
NM_007294.4(BRCA1):c.5509T>C (p.Trp1837Arg)	SNV Germline	Chr17:43045761	Pathogenic	Breast-ovarian cancer, familial, susceptibility to, 1 Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome Familial cancer of breast Fanconi anemia, complementation group S Breast-ovarian cancer, familial, susceptibility to, 1	Reviewed By Expert Panel	CA003680	rs_80356959	21 SubmittersRCV000031260 RCV000129546 RCV000236322 RCV000779893 RCV005357184
NM_007294.4(BRCA1):c.5511G>T (p.Trp1837Cys)	SNV Germline	Chr17:43045759	Pathogenic/Likely pathogenic	Breast-ovarian cancer, familial, susceptibility to, 1 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA003686	rs_80356914	8 SubmittersRCV000031261 RCV000049030 RCV000774925 RCV005055528
NM_007294.4(BRCA1):c.5521A>C (p.Ser1841Arg)	SNV Germline	Chr17:43045749	Likely pathogenic	Breast-ovarian cancer, familial, susceptibility to, 1 not specified Condition: not provided Breast and/or ovarian cancer Hereditary breast ovarian cancer syndrome Inherited breast cancer and ovarian cancer	Criteria Provided Multiple Submitters No Conflicts	CA003694	rs_80357299	10 SubmittersRCV000031262 RCV000496641 RCV000501320 RCV000735509 RCV002513284 RCV006276053
NM_007294.4(BRCA1):c.593+9A>G	SNV Germline	Chr17:43097235	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 1 not specified Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided Fanconi anemia, complementation group S Breast-ovarian cancer, familial, susceptibility to, 1 Familial cancer of breast	Criteria Provided Conflicting Classifications	CA003751	rs_80358133	9 SubmittersRCV000031266 RCV000433193 RCV000531917 RCV000580719 RCV003736546 RCV005394185
NM_007294.4(BRCA1):c.661G>T (p.Ala221Ser)	SNV Germline	Chr17:43095855	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 1 not specified Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA003780	rs_80357088	10 SubmittersRCV000031271 RCV000200971 RCV000165438 RCV001498329 RCV001703433
NM_007294.4(BRCA1):c.670+8C>T	SNV Germline	Chr17:43095838	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 1 Hereditary breast ovarian cancer syndrome not specified Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA003797	rs_80358050	6 SubmittersRCV000031273 RCV000049088 RCV000496492 RCV000581155
NM_007294.4(BRCA1):c.745A>T (p.Thr249Ser)	SNV Germline	Chr17:43094786	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 1 Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome	Criteria Provided Conflicting Classifications	CA003847	rs_397507256	8 SubmittersRCV000031277 RCV000221443 RCV000590556 RCV001063586
NM_007294.4(BRCA1):c.783T>G (p.Tyr261Ter)	SNV Germline	Chr17:43094748	Pathogenic	Breast-ovarian cancer, familial, susceptibility to, 1 Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome	Reviewed By Expert Panel	CA003865	rs_80357321	12 SubmittersRCV000031278 RCV000212162 RCV000509946 RCV000496530
NM_007294.4(BRCA1):c.81-6T>C	SNV Germline	Chr17:43115785	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 1 Hereditary breast ovarian cancer syndrome not specified Hereditary cancer-predisposing syndrome Breast and/or ovarian cancer Malignant tumor of breast Condition: not provided BRCA1-related disorder	Criteria Provided Conflicting Classifications	CA003916	rs_80358179	17 SubmittersRCV000031284 RCV000123287 RCV000423870 RCV000581130 RCV000768652 RCV001353944 RCV001811229 RCV004554637
NM_007294.4(BRCA1):c.85G>T (p.Glu29Ter)	SNV Germline	Chr17:43115775	Pathogenic	Breast-ovarian cancer, familial, susceptibility to, 1 Hereditary breast ovarian cancer syndrome Condition: not provided	Reviewed By Expert Panel	CA003943	rs_80357443	9 SubmittersRCV000031288 RCV001389948 RCV001800321
NM_007294.4(BRCA1):c.956A>G (p.Asn319Ser)	SNV Germline	Chr17:43094575	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 1 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome	Criteria Provided Conflicting Classifications	CA003983	rs_397507258	4 SubmittersRCV000031292 RCV001019486 RCV001314773
NM_007294.4(BRCA1):c.962G>A (p.Trp321Ter)	SNV Germline	Chr17:43094569	Pathogenic	Breast-ovarian cancer, familial, susceptibility to, 1 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided not specified Breast and/or ovarian cancer Fanconi anemia, complementation group S Breast-ovarian cancer, familial, susceptibility to, 1 Pancreatic cancer, susceptibility to, 4 Familial cancer of breast	Reviewed By Expert Panel	CA003986	rs_80357292	22 SubmittersRCV000031293 RCV000049204 RCV000162891 RCV000159948 RCV000239176 RCV000735517 RCV005016315 RCV004760347
NM_007294.4(BRCA1):c.988G>A (p.Asp330Asn)	SNV Germline	Chr17:43094543	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 1 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome not specified Fanconi anemia, complementation group S	Criteria Provided Conflicting Classifications	CA004002	rs_397507259	8 SubmittersRCV000031294 RCV000165321 RCV001338193 RCV003321486 RCV005357187
NM_000059.4(BRCA2):c.-9T>C	SNV Germline	Chr13:32316452	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 2 not specified Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome Familial cancer of breast Breast-ovarian cancer, familial, susceptibility to, 2	Criteria Provided Conflicting Classifications	CA026356	rs_276174802	11 SubmittersRCV000031298 RCV000425748 RCV000584062 RCV000587310 RCV001085220 RCV005357189
NM_000059.4(BRCA2):c.10024G>A (p.Glu3342Lys)	SNV Germline	Chr13:32398537	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome not specified Hereditary breast ovarian cancer syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA010063	rs_28897761	7 SubmittersRCV000031299 RCV000220854 RCV000445222 RCV000463710 RCV001705616
NM_000059.4(BRCA2):c.10154G>A (p.Arg3385His)	SNV Germline	Chr13:32398667	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome not specified Breast and/or ovarian cancer Condition: not provided Hereditary breast ovarian cancer syndrome Malignant tumor of breast BRCA2-related disorder	Criteria Provided Conflicting Classifications	CA010372	rs_80358398	16 SubmittersRCV000031303 RCV000162743 RCV000374528 RCV000768613 RCV000725588 RCV001086927 RCV001353958 RCV004532431
NM_000059.4(BRCA2):c.1166C>T (p.Pro389Leu)	SNV Germline	Chr13:32332644	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 2 not specified Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Familial cancer of breast	Criteria Provided Conflicting Classifications	CA011022	rs_397507263	12 SubmittersRCV000031308 RCV000439294 RCV000589187 RCV000571104 RCV001085676 RCV002250483
NM_000059.4(BRCA2):c.1199T>C (p.Leu400Pro)	SNV Germline	Chr13:32332677	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA011124	rs_397507264	4 SubmittersRCV000031310 RCV000229646 RCV000571637
NM_000059.4(BRCA2):c.1427C>G (p.Ser476Cys)	SNV Germline	Chr13:32332905	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided not specified 8 conditions	Criteria Provided Conflicting Classifications	CA012011	rs_80358431	15 SubmittersRCV000031320 RCV000132255 RCV000203653 RCV000589266 RCV001818197 RCV005007903
NM_000059.4(BRCA2):c.1460C>A (p.Ala487Glu)	SNV Germline	Chr13:32332938	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided Fanconi anemia complementation group D1 Hereditary breast ovarian cancer syndrome not specified	Criteria Provided Conflicting Classifications	CA012131	rs_56390402	18 SubmittersRCV000031322 RCV000131573 RCV000679155 RCV001109419 RCV001082494 RCV001818198
NM_000059.4(BRCA2):c.1472C>G (p.Thr491Ser)	SNV Germline	Chr13:32332950	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 2 not specified Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Familial cancer of breast	Criteria Provided Conflicting Classifications	CA012168	rs_397507268	8 SubmittersRCV000031323 RCV000220125 RCV000566123 RCV000637774 RCV005357192
NM_000059.4(BRCA2):c.1487C>T (p.Ser496Phe)	SNV Germline	Chr13:32332965	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome not specified	Criteria Provided Conflicting Classifications	CA012209	rs_397507269	7 SubmittersRCV000031324 RCV000205000 RCV000772728 RCV003330404
NM_000059.4(BRCA2):c.1550A>G (p.Asn517Ser)	SNV Germline	Chr13:32333028	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided not specified Hereditary cancer	Criteria Provided Conflicting Classifications	CA012378	rs_80358439	14 SubmittersRCV000031326 RCV000043826 RCV000129057 RCV000586299 RCV002267805 RCV005234811
NM_000059.4(BRCA2):c.1564G>C (p.Gly522Arg)	SNV Germline	Chr13:32333042	Conflicting classifications of pathogenicity	Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome not specified Endometrial carcinoma BRCA2-related cancer predisposition BRCA2-related disorder	Criteria Provided Conflicting Classifications	CA012430	rs_80358442	17 SubmittersRCV000034431 RCV000031327 RCV000043829 RCV000165147 RCV000200975 RCV001353896 RCV004803002 RCV004732558
NM_000059.4(BRCA2):c.1574C>T (p.Thr525Ile)	SNV Germline	Chr13:32333052	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA012488	rs_397507271	9 SubmittersRCV000031328 RCV000219292 RCV001367198 RCV001723594
NM_000059.4(BRCA2):c.1600G>A (p.Glu534Lys)	SNV Germline	Chr13:32333078	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome not specified BRCA2-related cancer predisposition	Criteria Provided Conflicting Classifications	CA012611	rs_276174810	11 SubmittersRCV000031330 RCV000131321 RCV000215004 RCV001327852 RCV003317049 RCV004803003
NM_000059.4(BRCA2):c.1625T>C (p.Ile542Thr)	SNV Germline	Chr13:32333103	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome Familial cancer of breast Breast-ovarian cancer, familial, susceptibility to, 2	Criteria Provided Conflicting Classifications	CA012660	rs_397507273	9 SubmittersRCV000031331 RCV000222475 RCV000589631 RCV001222108 RCV005357193
NM_000059.4(BRCA2):c.1705C>A (p.Gln569Lys)	SNV Germline	Chr13:32333183	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome not specified Hereditary breast ovarian cancer syndrome Condition: not provided BRCA2-related cancer predisposition	Criteria Provided Conflicting Classifications	CA012949	rs_397507274	8 SubmittersRCV000215568 RCV000220050 RCV000470503 RCV001800322 RCV004803004
NM_000059.4(BRCA2):c.1756A>G (p.Lys586Glu)	SNV Germline	Chr13:32333234	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided Breast and/or ovarian cancer not specified	Criteria Provided Conflicting Classifications	CA013100	rs_397507275	10 SubmittersRCV000031336 RCV000166903 RCV000801636 RCV001753436 RCV003149594 RCV003323367
NM_000059.4(BRCA2):c.1799A>G (p.Tyr600Cys)	SNV Germline	Chr13:32333277	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome	Criteria Provided Conflicting Classifications	CA013299	rs_397507276	4 SubmittersRCV000031338 RCV000567913 RCV002513285
NM_000059.4(BRCA2):c.179A>G (p.Asn60Ser)	SNV Germline	Chr13:32319188	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome not specified Hereditary breast ovarian cancer syndrome Fanconi anemia complementation group D1 Condition: not provided Familial cancer of breast	Criteria Provided Conflicting Classifications	CA013307	rs_80358463	15 SubmittersRCV000031339 RCV000130469 RCV000168530 RCV001082266 RCV001114847 RCV001284556 RCV003607203
NM_000059.4(BRCA2):c.1800T>A (p.Tyr600Ter)	SNV Germline	Chr13:32333278	Pathogenic	Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome Familial cancer of breast	Reviewed By Expert Panel	CA013314	rs_80358464	13 SubmittersRCV000031340 RCV000131060 RCV000216426 RCV000496257 RCV003460500
NM_000059.4(BRCA2):c.1832C>A (p.Ser611Ter)	SNV Germline	Chr13:32333310	Pathogenic	Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided Malignant tumor of breast Familial cancer of breast BRCA2-related cancer predisposition	Reviewed By Expert Panel	CA013511	rs_80358474	21 SubmittersRCV000031345 RCV000043906 RCV000131056 RCV000212216 RCV001353665 RCV003460501 RCV004803010
NM_000059.4(BRCA2):c.1850C>A (p.Ser617Ter)	SNV Germline	Chr13:32333328	Pathogenic	Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome	Reviewed By Expert Panel	CA013563	rs_397507278	6 SubmittersRCV000031346 RCV000587137 RCV000510116
NM_000059.4(BRCA2):c.1850C>G (p.Ser617Ter)	SNV Germline	Chr13:32333328	Pathogenic	Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 1	Reviewed By Expert Panel	CA013573	rs_397507278	6 SubmittersRCV000031347 RCV000509896 RCV006461235 RCV004771456
NM_000059.4(BRCA2):c.1970T>A (p.Leu657Ter)	SNV Germline	Chr13:32336325	Pathogenic	Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided Familial cancer of breast	Reviewed By Expert Panel	CA014065	rs_397507279	6 SubmittersRCV000031352 RCV000223168 RCV000558782 RCV000657697 RCV003473160
NM_000059.4(BRCA2):c.2026T>C (p.Cys676Arg)	SNV Germline	Chr13:32336381	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 2 Familial cancer of breast	Criteria Provided Conflicting Classifications	CA014166	rs_397507280	11 SubmittersRCV000031353 RCV000816423 RCV001014109 RCV001509436 RCV005357195
NM_000059.4(BRCA2):c.2152G>A (p.Glu718Lys)	SNV Germline	Chr13:32336507	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided Familial pancreatic carcinoma	Criteria Provided Conflicting Classifications	CA014465	rs_397507281	9 SubmittersRCV000031356 RCV000462341 RCV000571025 RCV001588835 RCV005364891
NM_000059.4(BRCA2):c.2231C>G (p.Ser744Ter)	SNV Germline	Chr13:32336586	Pathogenic	Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome Familial cancer of breast	Reviewed By Expert Panel	CA014691	rs_397507282	10 SubmittersRCV000031358 RCV000572355 RCV000481885 RCV001385142 RCV003473162
NM_000059.4(BRCA2):c.2240A>G (p.Glu747Gly)	SNV Germline	Chr13:32336595	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome not specified Condition: not provided Fanconi anemia complementation group D1	Criteria Provided Conflicting Classifications	CA014722	rs_397507283	13 SubmittersRCV000031359 RCV000204756 RCV000215823 RCV000487003 RCV000657147 RCV001112185
NM_000059.4(BRCA2):c.2281T>C (p.Tyr761His)	SNV Germline	Chr13:32336636	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA014861	rs_80358499	10 SubmittersRCV000031360 RCV000043968 RCV000132108 RCV000995057
NM_000059.4(BRCA2):c.2320A>G (p.Thr774Ala)	SNV Germline	Chr13:32336675	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 2 not specified Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided BRCA2-related disorder	Criteria Provided Conflicting Classifications	CA014934	rs_55968715	19 SubmittersRCV000031362 RCV000120313 RCV000131357 RCV000225743 RCV001719707 RCV004532435
NM_000059.4(BRCA2):c.235A>G (p.Ile79Val)	SNV Germline	Chr13:32319244	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 2 Malignant tumor of breast Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome BRCA2-related cancer predisposition	Criteria Provided Conflicting Classifications	CA015040	rs_80358502	9 SubmittersRCV000031364 RCV000500366 RCV000561580 RCV001588836 RCV001852621 RCV004803011
NM_000059.4(BRCA2):c.2409T>G (p.Tyr803Ter)	SNV Germline	Chr13:32336764	Pathogenic	Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Condition: not provided Hereditary cancer-predisposing syndrome Breast and/or ovarian cancer Familial cancer of breast	Reviewed By Expert Panel	CA015152	rs_80358504	16 SubmittersRCV000031365 RCV000043984 RCV000212221 RCV000573627 RCV000769686 RCV003473164
NM_000059.4(BRCA2):c.241T>A (p.Phe81Ile)	SNV Germline	Chr13:32319250	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided not specified BRCA2-related cancer predisposition	Criteria Provided Conflicting Classifications	CA015198	rs_80358507	16 SubmittersRCV000031366 RCV000043988 RCV000217504 RCV000586268 RCV002295275 RCV004803012
NM_000059.4(BRCA2):c.2426T>G (p.Leu809Ter)	SNV Germline	Chr13:32336781	Pathogenic	Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Condition: not provided Hereditary cancer-predisposing syndrome Familial cancer of breast	Reviewed By Expert Panel	CA015222	rs_397507285	11 SubmittersRCV000031367 RCV000204854 RCV000160047 RCV000561108 RCV004566765
NM_000059.4(BRCA2):c.2491G>A (p.Val831Ile)	SNV Germline	Chr13:32336846	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA015472	rs_397507287	15 SubmittersRCV000031369 RCV000204111 RCV000221646 RCV001269089 RCV001553524
NM_000059.4(BRCA2):c.2507C>T (p.Pro836Leu)	SNV Germline	Chr13:32336862	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome not specified	Criteria Provided Conflicting Classifications	CA015505	rs_397507288	5 SubmittersRCV000031370 RCV001015788 RCV001852622 RCV001824581
NM_000059.4(BRCA2):c.2555A>G (p.Asn852Ser)	SNV Germline	Chr13:32336910	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA015629	rs_80358519	6 SubmittersRCV000031371 RCV001015944 RCV001371141 RCV001800323
NM_000059.4(BRCA2):c.2572A>G (p.Arg858Gly)	SNV Germline	Chr13:32336927	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome not specified Hereditary breast ovarian cancer syndrome	Criteria Provided Conflicting Classifications	CA015667	rs_397507289	6 SubmittersRCV000031372 RCV000166715 RCV000160215 RCV000532132
NM_000059.4(BRCA2):c.2589T>A (p.Asn863Lys)	SNV Germline	Chr13:32336944	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome not specified Condition: not provided BRCA2-related disorder	Criteria Provided Conflicting Classifications	CA015734	rs_80358521	16 SubmittersRCV000031375 RCV000044020 RCV000130583 RCV000427575 RCV001284078 RCV004541034
NM_000059.4(BRCA2):c.2716A>G (p.Thr906Ala)	SNV Germline	Chr13:32337071	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 2 not specified Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Breast and/or ovarian cancer Condition: not provided BRCA2-related disorder	Criteria Provided Conflicting Classifications	CA016160	rs_80358528	13 SubmittersRCV000031379 RCV000160218 RCV000165093 RCV000204999 RCV000768588 RCV001719708 RCV004532436
NM_000059.4(BRCA2):c.274C>T (p.Gln92Ter)	SNV Germline/somatic	Chr13:32319283	Pathogenic	Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided Breast neoplasm Hereditary breast ovarian cancer syndrome	Reviewed By Expert Panel	CA016251	rs_80358529	13 SubmittersRCV000031380 RCV000215800 RCV000212204 RCV000240677 RCV000496410
NM_000059.4(BRCA2):c.2758C>A (p.Pro920Thr)	SNV Germline	Chr13:32337113	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA016278	rs_397507293	9 SubmittersRCV000031381 RCV000469857 RCV000776350 RCV001355877 RCV005229837
NM_000059.4(BRCA2):c.280C>T (p.Pro94Ser)	SNV Germline	Chr13:32319289	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome not specified Condition: not provided Breast and/or ovarian cancer Hereditary cancer BRCA2-related disorder	Criteria Provided Conflicting Classifications	CA016455	rs_80358531	22 SubmittersRCV000031384 RCV000129340 RCV000168018 RCV000254706 RCV000589736 RCV001798039 RCV004700291 RCV004732560
NM_000059.4(BRCA2):c.2818C>T (p.Gln940Ter)	SNV Germline	Chr13:32337173	Pathogenic	Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided Familial cancer of breast	Reviewed By Expert Panel	CA016502	rs_80358532	12 SubmittersRCV000031385 RCV000044068 RCV000131103 RCV000521686 RCV003460503
NM_000059.4(BRCA2):c.2827A>G (p.Ile943Val)	SNV Germline	Chr13:32337182	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Condition: not provided Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA016516	rs_397507294	7 SubmittersRCV000031386 RCV001320611 RCV001775544 RCV003156725
NM_000059.4(BRCA2):c.2908G>A (p.Asp970Asn)	SNV Germline	Chr13:32337263	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Malignant tumor of breast Condition: not provided 8 conditions Breast and/or ovarian cancer BRCA2-related cancer predisposition	Criteria Provided Conflicting Classifications	CA016740	rs_397507295	13 SubmittersRCV000031387 RCV000129877 RCV000196636 RCV000220683 RCV000588181 RCV000763884 RCV000735533 RCV004803013
NM_000059.4(BRCA2):c.2918C>T (p.Ser973Leu)	SNV Germline	Chr13:32337273	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome not specified Fanconi anemia complementation group D1 Ovarian cancer Familial prostate cancer	Criteria Provided Conflicting Classifications	CA016775	rs_397507296	15 SubmittersRCV000031388 RCV000165120 RCV000220429 RCV000471898 RCV000781108 RCV001111816 RCV003153311 RCV005357196
NM_000059.4(BRCA2):c.2937A>G (p.Ile979Met)	SNV Germline	Chr13:32337292	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome	Criteria Provided Conflicting Classifications	CA016830	rs_397507297	4 SubmittersRCV000031389 RCV000772737 RCV003529924
NM_000059.4(BRCA2):c.2938G>T (p.Asp980Tyr)	SNV Germline	Chr13:32337293	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome not specified Hereditary breast ovarian cancer syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA016836	rs_397507298	9 SubmittersRCV000031390 RCV000129246 RCV000506200 RCV000692326 RCV000766614
NM_000059.4(BRCA2):c.2946A>G (p.Ile982Met)	SNV Germline	Chr13:32337301	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome not specified Malignant tumor of breast Familial cancer of breast	Criteria Provided Conflicting Classifications	CA016856	rs_80358541	13 SubmittersRCV000031391 RCV000131646 RCV000590161 RCV001081289 RCV001175363 RCV001356963 RCV002250485
NM_000059.4(BRCA2):c.2979G>A (p.Trp993Ter)	SNV Germline	Chr13:32337334	Pathogenic	Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Familial cancer of breast	Reviewed By Expert Panel	CA016943	rs_80358544	11 SubmittersRCV000031393 RCV000162915 RCV000203665 RCV003473167
NM_000059.4(BRCA2):c.2984G>C (p.Gly995Ala)	SNV Germline	Chr13:32337339	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome	Criteria Provided Conflicting Classifications	CA016963	rs_397507299	4 SubmittersRCV000031394 RCV000574159 RCV001339914
NM_000059.4(BRCA2):c.3032C>G (p.Thr1011Arg)	SNV Germline	Chr13:32337387	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 2 Breast neoplasm Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome BRCA2-related disorder not specified	Criteria Provided Conflicting Classifications	CA017069	rs_80358548	19 SubmittersRCV000031396 RCV000148418 RCV000164588 RCV000589304 RCV001080499 RCV004532437 RCV005237440
NM_000059.4(BRCA2):c.3109C>T (p.Gln1037Ter)	SNV Germline/somatic	Chr13:32337464	Pathogenic	Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Condition: not provided Hereditary cancer-predisposing syndrome 8 conditions Malignant tumor of breast Familial cancer of breast Breast and/or ovarian cancer BRCA2-related disorder	Reviewed By Expert Panel	CA017251	rs_80358557	17 SubmittersRCV000031400 RCV000044120 RCV000160056 RCV000216711 RCV000762916 RCV001353509 RCV002250486 RCV003149595 RCV004541035
NM_000059.4(BRCA2):c.3158T>G (p.Leu1053Ter)	SNV Germline	Chr13:32337513	Pathogenic	Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome Familial cancer of breast	Reviewed By Expert Panel	CA017322	rs_41293477	17 SubmittersRCV000031401 RCV000162916 RCV000424640 RCV000496393 RCV003460504
NM_000059.4(BRCA2):c.316+1G>A	SNV Germline	Chr13:32319326	Pathogenic/Likely pathogenic	Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome	Criteria Provided Multiple Submitters No Conflicts	CA017358	rs_397507303	4 SubmittersRCV000031403 RCV000772114 RCV001378664
NM_000059.4(BRCA2):c.317-10A>G	SNV Germline	Chr13:32325066	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided not specified Hereditary breast ovarian cancer syndrome Familial cancer of breast Breast-ovarian cancer, familial, susceptibility to, 2	Criteria Provided Conflicting Classifications	CA017438	rs_81002824	10 SubmittersRCV000031406 RCV001182332 RCV001284417 RCV001192566 RCV001483715 RCV005364892
NM_000059.4(BRCA2):c.3218A>G (p.Gln1073Arg)	SNV Germline	Chr13:32337573	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome Malignant tumor of breast Breast and/or ovarian cancer not specified BRCA2-related disorder	Criteria Provided Conflicting Classifications	CA017573	rs_80358566	16 SubmittersRCV000031409 RCV000129622 RCV000588491 RCV001083043 RCV001357102 RCV001798041 RCV003389627 RCV004732562
NM_000059.4(BRCA2):c.3262C>T (p.Pro1088Ser)	SNV Germline	Chr13:32337617	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 2 not specified Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome BRCA2-related cancer predisposition	Criteria Provided Conflicting Classifications	CA017647	rs_80358572	25 SubmittersRCV000031410 RCV000044159 RCV000129258 RCV000585942 RCV001086347 RCV005364893
NM_000059.4(BRCA2):c.3299A>T (p.Asn1100Ile)	SNV Germline	Chr13:32337654	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 2 not specified Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome Inherited breast cancer and ovarian cancer BRCA2-related cancer predisposition	Criteria Provided Conflicting Classifications	CA017736	rs_80358575	15 SubmittersRCV000031413 RCV000044173 RCV000129737 RCV000656794 RCV001085619 RCV004584178 RCV004803016
NM_000059.4(BRCA2):c.3308T>G (p.Leu1103Ter)	SNV Germline	Chr13:32337663	Pathogenic	Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Familial cancer of breast Hereditary cancer-predisposing syndrome	Reviewed By Expert Panel	CA017759	rs_397507305	5 SubmittersRCV000031415 RCV000798064 RCV001262729 RCV002321494
NM_000059.4(BRCA2):c.3321A>C (p.Gln1107His)	SNV Germline	Chr13:32337676	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome not specified Hereditary breast ovarian cancer syndrome Condition: not provided BRCA2-related cancer predisposition	Criteria Provided Conflicting Classifications	CA017780	rs_397507306	10 SubmittersRCV000031416 RCV000131343 RCV000780030 RCV000794728 RCV003476910 RCV004803018
NM_000059.4(BRCA2):c.3349A>G (p.Ile1117Val)	SNV Germline	Chr13:32337704	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome	Criteria Provided Conflicting Classifications	CA017820	rs_397507307	7 SubmittersRCV000031418 RCV000480421 RCV000772028 RCV000688673
NM_000059.4(BRCA2):c.3422C>T (p.Thr1141Ile)	SNV Germline	Chr13:32337777	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome not specified	Criteria Provided Conflicting Classifications	CA017995	rs_397507308	7 SubmittersRCV000031420 RCV000200443 RCV000579950 RCV000781057
NM_000059.4(BRCA2):c.3437A>G (p.Glu1146Gly)	SNV Germline	Chr13:32337792	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome not specified Condition: not provided 8 conditions	Criteria Provided Conflicting Classifications	CA018008	rs_80358588	11 SubmittersRCV000031421 RCV000044192 RCV000129732 RCV000780046 RCV003151738 RCV005003411
NM_000059.4(BRCA2):c.3443A>G (p.Gln1148Arg)	SNV Germline	Chr13:32337798	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome not specified	Criteria Provided Conflicting Classifications	CA018029	rs_200808363	7 SubmittersRCV000031422 RCV000222474 RCV000467374 RCV001193843
NM_000059.4(BRCA2):c.3453C>G (p.Ile1151Met)	SNV Germline	Chr13:32337808	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome not specified Hereditary breast ovarian cancer syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA018084	rs_80358592	12 SubmittersRCV000031423 RCV000132398 RCV000212229 RCV001086601 RCV001703436
NM_000059.4(BRCA2):c.3509C>T (p.Ala1170Val)	SNV Germline	Chr13:32337864	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome not specified Hereditary breast ovarian cancer syndrome Condition: not provided Familial cancer of breast Breast-ovarian cancer, familial, susceptibility to, 2	Criteria Provided Conflicting Classifications	CA018216	rs_80358599	16 SubmittersRCV000031425 RCV000217936 RCV000440300 RCV001392166 RCV001703437 RCV005364894
NM_000059.4(BRCA2):c.353G>A (p.Arg118His)	SNV Germline	Chr13:32325112	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome not specified Hereditary cancer-predisposing syndrome Condition: not provided Malignant tumor of pancreas Familial cancer of breast Familial prostate cancer	Criteria Provided Conflicting Classifications	CA018293	rs_80358603	15 SubmittersRCV000031426 RCV000044218 RCV000200972 RCV000164685 RCV000587352 RCV000677866 RCV003607204 RCV005357198
NM_000059.4(BRCA2):c.3569G>A (p.Arg1190Gln)	SNV Germline	Chr13:32337924	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome not specified BRCA2-related cancer predisposition	Criteria Provided Conflicting Classifications	CA018360	rs_80358605	14 SubmittersRCV000031428 RCV000130051 RCV000587455 RCV001082730 RCV003234930 RCV005364895
NM_000059.4(BRCA2):c.3620A>G (p.Tyr1207Cys)	SNV Germline	Chr13:32337975	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA018414	rs_397507310	6 SubmittersRCV000031429 RCV000218950 RCV000557673 RCV000569223
NM_000059.4(BRCA2):c.3658T>C (p.Tyr1220His)	SNV Germline	Chr13:32338013	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA018482	rs_397507312	3 SubmittersRCV000031431 RCV001216931 RCV003156726
NM_000059.4(BRCA2):c.3662C>A (p.Ser1221Tyr)	SNV Germline	Chr13:32338017	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome not specified	Criteria Provided Conflicting Classifications	CA018495	rs_397507313	9 SubmittersRCV000031432 RCV000160066 RCV000698137 RCV000772742 RCV003317050
NM_000059.4(BRCA2):c.3794G>T (p.Cys1265Phe)	SNV Germline	Chr13:32338149	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA018818	rs_397507315	8 SubmittersRCV000031438 RCV000131347 RCV000555191 RCV001800324
NM_000059.4(BRCA2):c.3910A>G (p.Thr1304Ala)	SNV Germline	Chr13:32338265	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome not specified Breast and/or ovarian cancer Malignant tumor of breast Familial cancer of breast BRCA2-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA019137	rs_28897723	16 SubmittersRCV000031446 RCV000044305 RCV000130607 RCV000417556 RCV001170462 RCV001353744 RCV003607206 RCV004532440 RCV004998117
NM_000059.4(BRCA2):c.3922G>T (p.Glu1308Ter)	SNV Germline	Chr13:32338277	Pathogenic	Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Familial cancer of breast BRCA2-related disorder 8 conditions BRCA2-related cancer predisposition	Reviewed By Expert Panel	CA019195	rs_80358638	24 SubmittersRCV000031448 RCV000044312 RCV000128952 RCV000167856 RCV000465243 RCV004532441 RCV005003414 RCV004803025
NM_000059.4(BRCA2):c.396T>A (p.Cys132Ter)	SNV Germline	Chr13:32325155	Pathogenic	Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary breast ovarian cancer syndrome	Reviewed By Expert Panel	CA019311	rs_397507320	7 SubmittersRCV000031450 RCV000520725 RCV001384950
NM_000059.4(BRCA2):c.3G>T (p.Met1Ile)	SNV Germline	Chr13:32316463	Pathogenic	Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Breast and/or ovarian cancer Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA019369	rs_80358650	6 SubmittersRCV000031452 RCV000496217 RCV000735545 RCV004948138
NM_000059.4(BRCA2):c.4054G>T (p.Asp1352Tyr)	SNV Germline	Chr13:32338409	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided Breast and/or ovarian cancer Hereditary breast ovarian cancer syndrome BRCA2-related cancer predisposition	Criteria Provided Conflicting Classifications	CA019440	rs_80358655	13 SubmittersRCV000031455 RCV000565185 RCV000481701 RCV000770723 RCV001345237 RCV004803026
NM_000059.4(BRCA2):c.4151T>A (p.Leu1384Ter)	SNV Germline	Chr13:32338506	Pathogenic	Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome	Reviewed By Expert Panel	CA019626	rs_397507325	5 SubmittersRCV000031465 RCV001383064 RCV001524855
NM_000059.4(BRCA2):c.4189G>A (p.Glu1397Lys)	SNV Germline	Chr13:32338544	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 2 not specified Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided BRCA2-related disorder	Criteria Provided Conflicting Classifications	CA019698	rs_28897726	11 SubmittersRCV000031468 RCV000044370 RCV000203656 RCV000509937 RCV000586214 RCV003483437
NM_000059.4(BRCA2):c.4222C>T (p.Gln1408Ter)	SNV Germline	Chr13:32338577	Pathogenic	Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided BRCA2-related disorder Familial cancer of breast	Reviewed By Expert Panel	CA019744	rs_80358663	15 SubmittersRCV000031470 RCV000044373 RCV000215029 RCV000480509 RCV004532442 RCV003473172
NM_000059.4(BRCA2):c.4243G>T (p.Glu1415Ter)	SNV Germline	Chr13:32338598	Pathogenic	Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary cancer-predisposing syndrome 8 conditions Hereditary breast ovarian cancer syndrome Familial cancer of breast	Reviewed By Expert Panel	CA019770	rs_397507327	15 SubmittersRCV000031471 RCV000219707 RCV000510028 RCV000762917 RCV001385296 RCV003460510
NM_000059.4(BRCA2):c.4316C>A (p.Ala1439Asp)	SNV Germline	Chr13:32338671	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome not specified Condition: not provided Hereditary breast ovarian cancer syndrome	Criteria Provided Conflicting Classifications	CA019966	rs_80358667	13 SubmittersRCV000031474 RCV000131416 RCV000212234 RCV000656795 RCV001316319
NM_000059.4(BRCA2):c.4357A>G (p.Lys1453Glu)	SNV Germline	Chr13:32338712	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided not specified 8 conditions BRCA2-related disorder BRCA2-related cancer predisposition	Criteria Provided Conflicting Classifications	CA020036	rs_397507330	13 SubmittersRCV000119103 RCV000166887 RCV000204586 RCV000589133 RCV001358664 RCV002477033 RCV003483438 RCV004803030
NM_000059.4(BRCA2):c.4376A>G (p.Asn1459Ser)	SNV Germline	Chr13:32338731	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Breast neoplasm Condition: not provided Ovarian cancer Invasive lobular breast carcinoma Familial cancer of breast not specified BRCA2-related cancer predisposition Familial cancer of breast Breast-ovarian cancer, familial, susceptibility to, 2	Criteria Provided Conflicting Classifications	CA020060	rs_117187202	14 SubmittersRCV000031479 RCV000044400 RCV000166927 RCV000240790 RCV000481899 RCV000677824 RCV000677823 RCV002250488 RCV003234931 RCV004803031 RCV005357200
NM_000059.4(BRCA2):c.451G>A (p.Val151Ile)	SNV Germline	Chr13:32326126	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided BRCA2-related disorder	Criteria Provided Conflicting Classifications	CA020315	rs_397507335	5 SubmittersRCV000031489 RCV000561223 RCV000685146 RCV002281724 RCV004532444
NM_000059.4(BRCA2):c.4574A>G (p.His1525Arg)	SNV Germline	Chr13:32338929	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome 8 conditions Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA020478	rs_397507336	8 SubmittersRCV000031490 RCV000214334 RCV000229506 RCV002490437 RCV004998118 RCV005237441
NM_000059.4(BRCA2):c.4594G>T (p.Val1532Phe)	SNV Germline	Chr13:32338949	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA020521	rs_80358693	8 SubmittersRCV000031492 RCV001343720 RCV002336100
NM_000059.4(BRCA2):c.4637T>C (p.Phe1546Ser)	SNV Germline	Chr13:32338992	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA020566	rs_397507337	7 SubmittersRCV000031495 RCV000132332 RCV001044392 RCV002269258
NM_000059.4(BRCA2):c.464G>C (p.Arg155Thr)	SNV Germline	Chr13:32326139	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 2 not specified Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided 8 conditions	Criteria Provided Conflicting Classifications	CA020592	rs_377639990	9 SubmittersRCV000031497 RCV000160022 RCV000199441 RCV000582907 RCV000656793 RCV002477034
NM_000059.4(BRCA2):c.4741G>A (p.Glu1581Lys)	SNV Germline	Chr13:32339096	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA020741	rs_368952892	12 SubmittersRCV000031501 RCV000165611 RCV000637419 RCV004525860 RCV004812296
NM_000059.4(BRCA2):c.476-1G>A	SNV Germline	Chr13:32326241	Pathogenic/Likely pathogenic	Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Multiple myeloma	Criteria Provided Multiple Submitters No Conflicts	CA020789	rs_397507340	6 SubmittersRCV000031503 RCV000772115 RCV003529925 RCV004595892
NM_000059.4(BRCA2):c.476-2A>G	SNV Germline	Chr13:32326240	Pathogenic	Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided Breast and/or ovarian cancer Hereditary breast ovarian cancer syndrome Familial cancer of breast	Reviewed By Expert Panel	CA020792	rs_81002853	14 SubmittersRCV000031504 RCV000131855 RCV000506489 RCV001271039 RCV001387341 RCV003473180
NM_000059.4(BRCA2):c.476-3C>T	SNV Germline	Chr13:32326239	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome not specified Hereditary breast ovarian cancer syndrome Condition: not provided Malignant tumor of breast BRCA2-related disorder	Criteria Provided Conflicting Classifications	CA020799	rs_371431745	9 SubmittersRCV000031506 RCV000132383 RCV000438966 RCV000559561 RCV001719709 RCV001356001 RCV004541039
NM_000059.4(BRCA2):c.4819A>G (p.Ile1607Val)	SNV Germline	Chr13:32339174	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA020868	rs_200582465	11 SubmittersRCV000031507 RCV000221891 RCV000233915 RCV000221701 RCV000657070
NM_000059.4(BRCA2):c.4828G>A (p.Val1610Met)	SNV Germline	Chr13:32339183	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome not specified Hereditary cancer-predisposing syndrome Fanconi anemia complementation group D1 Condition: not provided Breast and/or ovarian cancer	Criteria Provided Conflicting Classifications	CA020880	rs_80358705	16 SubmittersRCV000031508 RCV000044498 RCV000074530 RCV000130783 RCV001112023 RCV001353552 RCV003492312
NM_000059.4(BRCA2):c.4850G>A (p.Ser1617Asn)	SNV Germline	Chr13:32339205	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome not specified Hereditary breast ovarian cancer syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA020915	rs_397507341	11 SubmittersRCV000031509 RCV000166443 RCV000437440 RCV000697920 RCV001703438
NM_000059.4(BRCA2):c.4905G>T (p.Leu1635Phe)	SNV Germline	Chr13:32339260	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome BRCA2-related cancer predisposition	Criteria Provided Conflicting Classifications	CA020991	rs_397507342	7 SubmittersRCV000031511 RCV000461109 RCV000581537 RCV004803037
NM_000059.4(BRCA2):c.4910T>G (p.Val1637Gly)	SNV Germline	Chr13:32339265	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome	Criteria Provided Conflicting Classifications	CA020995	rs_397507343	4 SubmittersRCV000031512 RCV000130557 RCV001228952
NM_000059.4(BRCA2):c.4915G>A (p.Val1639Ile)	SNV Germline	Chr13:32339270	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Breast neoplasm Condition: not provided Hereditary breast ovarian cancer syndrome not specified Familial pancreatic carcinoma	Criteria Provided Conflicting Classifications	CA020999	rs_80358716	15 SubmittersRCV000031513 RCV000129029 RCV000240704 RCV000587911 RCV001083151 RCV004562220 RCV005357202
NM_000059.4(BRCA2):c.4965C>G (p.Tyr1655Ter)	SNV Germline	Chr13:32339320	Pathogenic	Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Fanconi anemia complementation group D1 Hereditary breast ovarian cancer syndrome not specified 8 conditions Ovarian neoplasm Fanconi anemia complementation group D1 Malignant tumor of breast Familial cancer of breast BRCA2-related cancer predisposition Inherited ovarian cancer (without breast cancer) Breast-ovarian cancer, familial, susceptibility to, 1	Reviewed By Expert Panel	CA021070	rs_80358721	32 SubmittersRCV000031517 RCV000044533 RCV000128925 RCV000194794 RCV000195354 RCV000496311 RCV000762918 RCV000785221 RCV001269282 RCV001353669 RCV003473182 RCV004803038 RCV004808557 RCV005861028
NM_000059.4(BRCA2):c.4979C>T (p.Pro1660Leu)	SNV Germline	Chr13:32339334	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome	Criteria Provided Conflicting Classifications	CA021095	rs_397507345	5 SubmittersRCV000031518 RCV000166270 RCV001042145
NM_000059.4(BRCA2):c.5000C>G (p.Ser1667Ter)	SNV Germline	Chr13:32339355	Pathogenic	Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome	Reviewed By Expert Panel	CA021122	rs_397507346	4 SubmittersRCV000031519 RCV000582842 RCV001042671
NM_000059.4(BRCA2):c.506A>G (p.Lys169Arg)	SNV Germline	Chr13:32326272	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 2 not specified Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Fanconi anemia complementation group D1 Condition: not provided Breast and/or ovarian cancer BRCA2-related disorder	Criteria Provided Conflicting Classifications	CA021201	rs_80358730	17 SubmittersRCV000031522 RCV000074532 RCV000044547 RCV000129126 RCV001111540 RCV001281705 RCV001798044 RCV004541040
NM_000059.4(BRCA2):c.5080A>T (p.Arg1694Ter)	SNV Germline	Chr13:32339435	Pathogenic	Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 1	Reviewed By Expert Panel	CA021220	rs_200265692	9 SubmittersRCV000031525 RCV000255681 RCV001035630 RCV001186724 RCV005861029
NM_000059.4(BRCA2):c.5084A>G (p.Glu1695Gly)	SNV Germline	Chr13:32339439	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome	Criteria Provided Conflicting Classifications	CA021226	rs_397507347	6 SubmittersRCV000031526 RCV000173968 RCV001023510 RCV000805560
NM_000059.4(BRCA2):c.5164A>T (p.Ser1722Cys)	SNV Germline	Chr13:32339519	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Pancreatic cancer, susceptibility to, 2 Condition: not provided not specified BRCA2-related cancer predisposition	Criteria Provided Conflicting Classifications	CA021504	rs_80358741	11 SubmittersRCV000031529 RCV000218602 RCV000637658 RCV001787821 RCV001800326 RCV002247403 RCV004803040
NM_000059.4(BRCA2):c.5227A>T (p.Ser1743Cys)	SNV Germline	Chr13:32339582	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA021787	rs_397507348	3 SubmittersRCV000031533 RCV001247955 RCV003156727
NM_000059.4(BRCA2):c.5423T>C (p.Ile1808Thr)	SNV Germline	Chr13:32339778	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome not specified Condition: not provided Hereditary breast ovarian cancer syndrome Hereditary cancer	Criteria Provided Conflicting Classifications	CA022301	rs_397507350	12 SubmittersRCV000031545 RCV000217283 RCV000432442 RCV000587412 RCV000697860 RCV004700292
NM_000059.4(BRCA2):c.5495C>G (p.Ser1832Cys)	SNV Germline	Chr13:32339850	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 2 not specified Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided Familial cancer of breast	Criteria Provided Conflicting Classifications	CA022446	rs_138489917	11 SubmittersRCV000031550 RCV000120329 RCV000129225 RCV000470070 RCV001284573 RCV005888835
NM_000059.4(BRCA2):c.551T>C (p.Leu184Pro)	SNV Germline	Chr13:32326533	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome not specified Familial cancer of breast BRCA2-related cancer predisposition	Criteria Provided Conflicting Classifications	CA022493	rs_80358775	11 SubmittersRCV000031552 RCV000200973 RCV001024218 RCV001413498 RCV002271380 RCV004566771 RCV004803045
NM_000059.4(BRCA2):c.5554G>A (p.Val1852Ile)	SNV Germline	Chr13:32339909	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA022546	rs_80358777	15 SubmittersRCV000031554 RCV000044680 RCV000164924 RCV000656609 RCV001193956
NM_000059.4(BRCA2):c.5575A>G (p.Ile1859Val)	SNV Germline	Chr13:32339930	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA022595	rs_397507354	12 SubmittersRCV000031555 RCV000166864 RCV000229983 RCV000590140
NM_000059.4(BRCA2):c.5614A>T (p.Lys1872Ter)	SNV Germline	Chr13:32339969	Pathogenic	Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided Familial cancer of breast	Reviewed By Expert Panel	CA022708	rs_80358783	14 SubmittersRCV000113450 RCV000044696 RCV000162926 RCV000212241 RCV003473191
NM_000059.4(BRCA2):c.5645C>A (p.Ser1882Ter)	SNV Germline	Chr13:32340000	Pathogenic	Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Breast neoplasm Familial cancer of breast Breast and/or ovarian cancer Ovarian neoplasm not specified Prostate cancer Metastatic Prostate Small Cell Carcinoma Breast carcinoma 8 conditions Gastric cancer BRCA2-related disorder BRCA2-related cancer predisposition	Reviewed By Expert Panel	CA022818	rs_80358785	46 SubmittersRCV000031565 RCV000044705 RCV000131114 RCV000167830 RCV000240722 RCV000585709 RCV000735569 RCV000785224 RCV001002489 RCV001281099 RCV001799612 RCV002496484 RCV003162274 RCV003483439 RCV004803049
NM_000059.4(BRCA2):c.5655C>A (p.Cys1885Ter)	SNV Germline	Chr13:32340010	Pathogenic	Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Condition: not provided Hereditary cancer-predisposing syndrome	Reviewed By Expert Panel	CA022870	rs_80358789	15 SubmittersRCV000031566 RCV000044709 RCV000160093 RCV000220539
NM_000059.4(BRCA2):c.566A>G (p.Asp189Gly)	SNV Germline	Chr13:32326548	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA022922	rs_397507359	7 SubmittersRCV000031567 RCV000542458 RCV000567705 RCV006449946
NM_000059.4(BRCA2):c.5672C>T (p.Ala1891Val)	SNV Germline	Chr13:32340027	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided 8 conditions	Criteria Provided Conflicting Classifications	CA022933	rs_397507360	10 SubmittersRCV000031568 RCV000460706 RCV000562290 RCV000758912 RCV002477036
NM_000059.4(BRCA2):c.5682C>G (p.Tyr1894Ter)	SNV Germline	Chr13:32340037	Pathogenic	Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided Ovarian cancer 9 conditions Breast and/or ovarian cancer Ovarian neoplasm Familial cancer of breast 8 conditions Breast-ovarian cancer, familial, susceptibility to, 1 BRCA2-related disorder Inherited breast cancer and ovarian cancer	Reviewed By Expert Panel	CA022962	rs_41293497	44 SubmittersRCV000031570 RCV000044719 RCV000131121 RCV000160095 RCV000148424 RCV000515199 RCV000735572 RCV000785225 RCV002250489 RCV002477037 RCV003493419 RCV004732568 RCV005252701
NM_000059.4(BRCA2):c.5723T>C (p.Leu1908Pro)	SNV Germline	Chr13:32340078	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided Breast and/or ovarian cancer not specified	Criteria Provided Conflicting Classifications	CA023052	rs_80358797	13 SubmittersRCV000031572 RCV000220622 RCV001486114 RCV001689581 RCV001798048 RCV002468982
NM_000059.4(BRCA2):c.5737T>C (p.Cys1913Arg)	SNV Germline	Chr13:32340092	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome not specified Condition: not provided Familial cancer of breast	Criteria Provided Conflicting Classifications	CA023103	rs_80358799	12 SubmittersRCV000031573 RCV000044738 RCV000132499 RCV000212244 RCV000586429 RCV002272032
NM_000059.4(BRCA2):c.5782G>T (p.Glu1928Ter)	SNV Germline	Chr13:32340137	Pathogenic	Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Malignant tumor of breast Familial cancer of breast Low grade glioma Condition: not provided	Reviewed By Expert Panel	CA023221	rs_56253082	14 SubmittersRCV000031577 RCV000044754 RCV000581432 RCV001356842 RCV003460518 RCV006454641 RCV004998119
NM_000059.4(BRCA2):c.582G>A (p.Trp194Ter)	SNV Germline/somatic	Chr13:32326564	Pathogenic	Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Malignant tumor of urinary bladder Inherited breast cancer and ovarian cancer BRCA2-related cancer predisposition Condition: not provided	Reviewed By Expert Panel	CA023281	rs_80358810	12 SubmittersRCV000031581 RCV000562057 RCV001387735 RCV003332089 RCV005237442 RCV005357206 RCV006270341
NM_000059.4(BRCA2):c.5855T>A (p.Leu1952Ter)	SNV Germline	Chr13:32340210	Pathogenic	Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome	Reviewed By Expert Panel	CA023306	rs_375064902	7 SubmittersRCV000031583 RCV000149889 RCV000563543
NM_000059.4(BRCA2):c.5882G>A (p.Ser1961Asn)	SNV Germline	Chr13:32340237	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA023336	rs_80358820	14 SubmittersRCV000031585 RCV000044784 RCV000128953 RCV000439783 RCV001703439
NM_000059.4(BRCA2):c.5896C>T (p.His1966Tyr)	SNV Germline	Chr13:32340251	Conflicting classifications of pathogenicity	not specified Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Malignant tumor of breast Condition: not provided Inherited breast cancer and ovarian cancer	Criteria Provided Conflicting Classifications	CA023347	rs_80358822	17 SubmittersRCV000044787 RCV000031586 RCV000131689 RCV000225745 RCV001356911 RCV001800329 RCV004691727
NM_000059.4(BRCA2):c.5897A>G (p.His1966Arg)	SNV Germline	Chr13:32340252	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome not specified	Criteria Provided Conflicting Classifications	CA023349	rs_80358823	11 SubmittersRCV000031587 RCV000130475 RCV000586187 RCV001083441 RCV002509172
NM_000059.4(BRCA2):c.5909C>A (p.Ser1970Ter)	SNV Germline	Chr13:32340264	Pathogenic	Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome Breast and/or ovarian cancer Malignant tumor of breast Familial cancer of breast Inherited breast cancer and ovarian cancer	Reviewed By Expert Panel	CA023362	rs_80358824	25 SubmittersRCV000031588 RCV000131108 RCV000255943 RCV000257911 RCV000735577 RCV001354008 RCV003460519 RCV004782025
NM_000059.4(BRCA2):c.5909C>T (p.Ser1970Leu)	SNV Germline	Chr13:32340264	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA023364	rs_80358824	5 SubmittersRCV000031589 RCV000228606 RCV000583874
NM_000059.4(BRCA2):c.5937C>G (p.Ser1979Arg)	SNV Germline	Chr13:32340292	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided not specified Breast and/or ovarian cancer BRCA2-related cancer predisposition	Criteria Provided Conflicting Classifications	CA023388	rs_28897737	12 SubmittersRCV000031590 RCV000167183 RCV000168414 RCV000587913 RCV001268976 RCV001798049 RCV004803052
NM_000059.4(BRCA2):c.5945G>C (p.Ser1982Thr)	SNV Germline	Chr13:32340300	Conflicting classifications of pathogenicity	not specified Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided BRCA2-related disorder	Criteria Provided Conflicting Classifications	CA023396	rs_28897738	10 SubmittersRCV000044796 RCV000113507 RCV000203657 RCV000510094 RCV000590082 RCV003483440
NM_000059.4(BRCA2):c.5980C>T (p.Gln1994Ter)	SNV Germline	Chr13:32340335	Pathogenic	Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Familial cancer of breast Condition: not provided Hereditary cancer-predisposing syndrome Gastric cancer	Reviewed By Expert Panel	CA023442	rs_80358831	11 SubmittersRCV000031592 RCV000044810 RCV000457725 RCV000758915 RCV000772034 RCV003162276
NM_000059.4(BRCA2):c.5986G>T (p.Ala1996Ser)	SNV Germline	Chr13:32340341	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary breast ovarian cancer syndrome 8 conditions Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA023458	rs_80358833	8 SubmittersRCV000031593 RCV000501578 RCV000637722 RCV000763892 RCV001024750
NM_000059.4(BRCA2):c.6020C>A (p.Thr2007Asn)	SNV Germline	Chr13:32340375	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA023530	rs_397507363	9 SubmittersRCV000031595 RCV001024817 RCV000803896 RCV004998120
NM_000059.4(BRCA2):c.6037A>T (p.Lys2013Ter)	SNV Germline	Chr13:32340392	Pathogenic	Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided not specified Familial cancer of breast	Reviewed By Expert Panel	CA023562	rs_80358840	21 SubmittersRCV000031597 RCV000044827 RCV000131111 RCV000217667 RCV000506478 RCV003473197
NM_000059.4(BRCA2):c.6125A>C (p.Gln2042Pro)	SNV Germline	Chr13:32340480	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided not specified BRCA2-related cancer predisposition	Criteria Provided Conflicting Classifications	CA023678	rs_80358852	14 SubmittersRCV000031599 RCV000131951 RCV000203091 RCV000587844 RCV002265571 RCV004803054
NM_000059.4(BRCA2):c.6125A>G (p.Gln2042Arg)	SNV Germline	Chr13:32340480	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome not specified BRCA2-related cancer predisposition	Criteria Provided Conflicting Classifications	CA023680	rs_80358852	10 SubmittersRCV000031600 RCV000160108 RCV000219164 RCV000200820 RCV000779953 RCV005357207
NM_000059.4(BRCA2):c.6131G>C (p.Gly2044Ala)	SNV Germline	Chr13:32340486	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided Breast and/or ovarian cancer Hereditary breast ovarian cancer syndrome Malignant tumor of breast Fanconi anemia complementation group D1 not specified	Criteria Provided Conflicting Classifications	CA023684	rs_56191579	17 SubmittersRCV000031601 RCV000166682 RCV000586884 RCV000768600 RCV001085159 RCV001353819 RCV001330945 RCV004562221
NM_000059.4(BRCA2):c.6131G>T (p.Gly2044Val)	SNV Germline	Chr13:32340486	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary cancer-predisposing syndrome not specified Breast neoplasm Hereditary breast ovarian cancer syndrome Fanconi anemia complementation group D1 Malignant tumor of breast Breast and/or ovarian cancer	Criteria Provided Conflicting Classifications	CA023686	rs_56191579	16 SubmittersRCV000031602 RCV000044854 RCV000130525 RCV000421588 RCV000413633 RCV001086174 RCV001112564 RCV001358172 RCV003492315
NM_000059.4(BRCA2):c.6188G>A (p.Gly2063Glu)	SNV Germline	Chr13:32340543	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome	Criteria Provided Conflicting Classifications	CA023726	rs_397507364	4 SubmittersRCV000031604 RCV000164734 RCV001059846
NM_000059.4(BRCA2):c.6196G>A (p.Val2066Ile)	SNV Germline	Chr13:32340551	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided not specified 8 conditions	Criteria Provided Conflicting Classifications	CA023729	rs_397507365	13 SubmittersRCV000031605 RCV000132349 RCV000476966 RCV000588799 RCV000855632 RCV005007912
NM_000059.4(BRCA2):c.6199T>A (p.Ser2067Thr)	SNV Germline	Chr13:32340554	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome not specified Hereditary breast ovarian cancer syndrome	Criteria Provided Conflicting Classifications	CA023733	rs_143806921	6 SubmittersRCV000031606 RCV000509673 RCV000507742 RCV000700945
NM_000059.4(BRCA2):c.6206T>G (p.Leu2069Ter)	SNV Germline	Chr13:32340561	Pathogenic	Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Condition: not provided Hereditary cancer-predisposing syndrome Familial cancer of breast	Reviewed By Expert Panel	CA023746	rs_80358859	16 SubmittersRCV000031607 RCV000044867 RCV000486394 RCV000568590 RCV003473198
NM_000059.4(BRCA2):c.6215C>G (p.Ser2072Cys)	SNV Germline	Chr13:32340570	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome not specified Hereditary cancer-predisposing syndrome Condition: not provided Breast and/or ovarian cancer BRCA2-related disorder BRCA2-related cancer predisposition	Criteria Provided Conflicting Classifications	CA023758	rs_80358862	17 SubmittersRCV000031608 RCV000044872 RCV000120333 RCV000130542 RCV000766634 RCV000769699 RCV004532452 RCV004803055
NM_000059.4(BRCA2):c.6269A>G (p.His2090Arg)	SNV Germline	Chr13:32340624	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided not specified Malignant tumor of breast Breast and/or ovarian cancer BRCA2-related cancer predisposition	Criteria Provided Conflicting Classifications	CA023799	rs_397507366	13 SubmittersRCV000031611 RCV000562031 RCV001214226 RCV001284435 RCV001175040 RCV001354947 RCV003492316 RCV004803056
NM_000059.4(BRCA2):c.62A>G (p.Lys21Arg)	SNV Germline	Chr13:32316522	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided not specified Malignant tumor of breast BRCA2-related cancer predisposition	Criteria Provided Conflicting Classifications	CA023837	rs_397507367	13 SubmittersRCV000031614 RCV000129552 RCV000122923 RCV000656792 RCV001193807 RCV001357067 RCV004803058
NM_000059.4(BRCA2):c.6313A>G (p.Ile2105Val)	SNV Germline	Chr13:32340668	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA023857	rs_397507368	4 SubmittersRCV000031616 RCV000637370 RCV001025126
NM_000059.4(BRCA2):c.631G>C (p.Val211Leu)	SNV Germline	Chr13:32326613	Pathogenic/Likely pathogenic	Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome BRCA2-related cancer predisposition	Criteria Provided Multiple Submitters No Conflicts	CA023872	rs_80358871	11 SubmittersRCV000031617 RCV000438397 RCV000562565 RCV001328441 RCV004803059
NM_000059.4(BRCA2):c.6344A>G (p.Glu2115Gly)	SNV Germline	Chr13:32340699	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA023933	rs_397507370	6 SubmittersRCV000031622 RCV001351427 RCV002257368
NM_000059.4(BRCA2):c.6441C>G (p.His2147Gln)	SNV Germline	Chr13:32340796	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome not specified Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA024038	rs_80358879	7 SubmittersRCV000031627 RCV000044948 RCV000496559 RCV001025273
NM_000059.4(BRCA2):c.6541G>C (p.Gly2181Arg)	SNV Germline	Chr13:32340896	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome not specified Hereditary cancer-predisposing syndrome Condition: not provided BRCA2-related disorder Inherited breast cancer and ovarian cancer	Criteria Provided Conflicting Classifications	CA024155	rs_371067421	11 SubmittersRCV000031633 RCV000205463 RCV000420330 RCV000567616 RCV000586226 RCV004732572 RCV006277669
NM_000059.4(BRCA2):c.6560C>T (p.Pro2187Leu)	SNV Germline	Chr13:32340915	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome not specified Condition: not provided Hereditary breast ovarian cancer syndrome Fanconi anemia complementation group D1 Breast and/or ovarian cancer	Criteria Provided Conflicting Classifications	CA024168	rs_56019712	16 SubmittersRCV000031634 RCV000129413 RCV000044985 RCV000589601 RCV001081092 RCV001109884 RCV003492317
NM_000059.4(BRCA2):c.6567C>G (p.Asn2189Lys)	SNV Germline	Chr13:32340922	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Condition: not provided Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA024178	rs_397507374	7 SubmittersRCV000031636 RCV000695101 RCV001566342 RCV002362602
NM_000059.4(BRCA2):c.67+4T>C	SNV Germline	Chr13:32316531	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA024375	rs_373546450	9 SubmittersRCV000031643 RCV000130680 RCV000228347 RCV001723595
NM_000059.4(BRCA2):c.6739A>G (p.Ser2247Gly)	SNV Germline	Chr13:32341094	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 2 not specified Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome Familial cancer of breast	Criteria Provided Conflicting Classifications	CA024359	rs_80358896	15 SubmittersRCV000031645 RCV000045034 RCV000163090 RCV000587555 RCV001079936 RCV003607207
NM_000059.4(BRCA2):c.682-13A>G	SNV Germline	Chr13:32330906	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome not specified Hereditary cancer-predisposing syndrome Familial cancer of breast Breast-ovarian cancer, familial, susceptibility to, 2	Criteria Provided Conflicting Classifications	CA024454	rs_81002888	10 SubmittersRCV000031650 RCV000045062 RCV000608940 RCV001188330 RCV005357211
NM_000059.4(BRCA2):c.688A>T (p.Lys230Ter)	SNV Germline	Chr13:32330925	Pathogenic	Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Familial cancer of breast Condition: not provided	Reviewed By Expert Panel	CA024542	rs_80358913	10 SubmittersRCV000031654 RCV000221860 RCV000496274 RCV003473206 RCV006277671
NM_000059.4(BRCA2):c.6952C>T (p.Arg2318Ter)	SNV Germline/somatic	Chr13:32346841	Pathogenic	Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Breast neoplasm Condition: not provided Hereditary cancer-predisposing syndrome Ovarian neoplasm 8 conditions Familial cancer of breast Gastric cancer BRCA2-related disorder Inherited breast cancer and ovarian cancer Inherited ovarian cancer (without breast cancer)	Reviewed By Expert Panel	CA024619	rs_80358920	38 SubmittersRCV000031658 RCV000045095 RCV000240678 RCV000212256 RCV000569398 RCV000785228 RCV000763325 RCV001262534 RCV003162279 RCV003483441 RCV006454642 RCV006454643
NM_000059.4(BRCA2):c.7007G>A (p.Arg2336His)	SNV Germline/somatic	Chr13:32346896	Pathogenic	Fanconi anemia complementation group D1 Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided Familial cancer of breast Breast and/or ovarian cancer 8 conditions BRCA2-related disorder Inherited breast cancer and ovarian cancer Neoplasm	Reviewed By Expert Panel	CA024713	rs_28897743	42 SubmittersRCV000009923 RCV000031659 RCV000045112 RCV000131031 RCV000174440 RCV000475925 RCV000735595 RCV002496486 RCV004732575 RCV005237444 RCV006273071
NM_000059.4(BRCA2):c.7096C>G (p.Leu2366Val)	SNV Germline	Chr13:32354949	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided not specified BRCA2-related cancer predisposition	Criteria Provided Conflicting Classifications	CA024864	rs_80358941	12 SubmittersRCV000031665 RCV000164923 RCV000225749 RCV000679185 RCV002265572 RCV004803064
NM_000059.4(BRCA2):c.7102T>G (p.Leu2368Val)	SNV Germline	Chr13:32354955	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome not specified Condition: not provided Malignant tumor of breast Familial cancer of breast Breast and/or ovarian cancer BRCA2-related disorder	Criteria Provided Conflicting Classifications	CA024871	rs_397507382	14 SubmittersRCV000031666 RCV000206651 RCV000132508 RCV000445338 RCV001711136 RCV001353652 RCV002250491 RCV003492318 RCV004532455
NM_000059.4(BRCA2):c.7133C>G (p.Ser2378Ter)	SNV Germline	Chr13:32354986	Pathogenic	Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided Rhabdomyosarcoma Familial cancer of breast	Reviewed By Expert Panel	CA024895	rs_276174889	12 SubmittersRCV000031667 RCV000045148 RCV000216056 RCV000478738 RCV001257550 RCV003460526
NM_000059.4(BRCA2):c.7258G>T (p.Glu2420Ter)	SNV Germline	Chr13:32355111	Pathogenic	Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome	Reviewed By Expert Panel	CA025002	rs_397507385	5 SubmittersRCV000031671 RCV000045178 RCV000221529
NM_000059.4(BRCA2):c.7435+6G>A	SNV Germline	Chr13:32355294	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome not specified Condition: not provided Breast and/or ovarian cancer BRCA2-related disorder Familial cancer of breast	Criteria Provided Conflicting Classifications	CA025080	rs_81002852	29 SubmittersRCV000031678 RCV000167780 RCV000210777 RCV000168598 RCV000679187 RCV000768633 RCV004528144 RCV005411302
NM_000059.4(BRCA2):c.7436-4A>G	SNV Germline	Chr13:32356424	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome not specified Breast and/or ovarian cancer Hereditary breast ovarian cancer syndrome Condition: not provided BRCA2-related disorder BRCA2-related cancer predisposition	Criteria Provided Conflicting Classifications	CA025086	rs_81002904	16 SubmittersRCV000031679 RCV000164776 RCV000168599 RCV000768634 RCV001084165 RCV001353462 RCV004532456 RCV004803065
NM_000059.4(BRCA2):c.7466A>G (p.Asp2489Gly)	SNV Germline	Chr13:32356458	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided not specified Hereditary breast ovarian cancer syndrome Familial cancer of breast	Criteria Provided Conflicting Classifications	CA025100	rs_80358970	13 SubmittersRCV000031680 RCV000131769 RCV000212259 RCV001171393 RCV001300377 RCV004566777
NM_000059.4(BRCA2):c.7480C>T (p.Arg2494Ter)	SNV Germline	Chr13:32356472	Pathogenic	Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Carcinoma of pancreas Gastric cancer Familial cancer of breast 8 conditions BRCA2-related disorder Sarcoma BRCA2-related cancer predisposition Inherited breast cancer and ovarian cancer	Reviewed By Expert Panel	CA025108	rs_80358972	38 SubmittersRCV000031681 RCV000045227 RCV000131084 RCV000225750 RCV001391218 RCV003162280 RCV003460528 RCV002477038 RCV004732576 RCV005888836 RCV004803066 RCV006272129
NM_000059.4(BRCA2):c.7499G>C (p.Arg2500Thr)	SNV Germline	Chr13:32356491	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 2 not specified Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 1 BRCA2-related cancer predisposition	Criteria Provided Conflicting Classifications	CA025119	rs_80358976	10 SubmittersRCV000031682 RCV000045232 RCV000129357 RCV000203647 RCV001719711 RCV004584598 RCV004803067
NM_000059.4(BRCA2):c.7565C>T (p.Ser2522Phe)	SNV Germline	Chr13:32356557	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided Chordoma Inherited prostate cancer not specified	Criteria Provided Conflicting Classifications	CA025154	rs_80358985	11 SubmittersRCV000031686 RCV000045249 RCV000162600 RCV000587666 RCV002266908 RCV005237446 RCV006451906
NM_000059.4(BRCA2):c.7594C>T (p.Pro2532Ser)	SNV Germline	Chr13:32356586	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Familial cancer of breast	Criteria Provided Conflicting Classifications	CA025167	rs_397507388	5 SubmittersRCV000031689 RCV000222549 RCV001224548 RCV003460529
NM_000059.4(BRCA2):c.7598C>G (p.Ser2533Cys)	SNV Germline	Chr13:32356590	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided not specified Familial cancer of breast Breast-ovarian cancer, familial, susceptibility to, 2 BRCA2-related cancer predisposition	Criteria Provided Conflicting Classifications	CA025173	rs_80358987	10 SubmittersRCV000031690 RCV000045255 RCV000130650 RCV000214587 RCV001194022 RCV005357213 RCV004803070
NM_000059.4(BRCA2):c.7601C>T (p.Ala2534Val)	SNV Germline	Chr13:32356593	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome not specified BRCA2-related disorder	Criteria Provided Conflicting Classifications	CA025174	rs_74047012	16 SubmittersRCV000031691 RCV000220233 RCV000590175 RCV001085066 RCV002267807 RCV004541047
NM_000059.4(BRCA2):c.7618-1G>A	SNV Germline	Chr13:32357741	Pathogenic	Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Familial cancer of breast Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 8 conditions	Reviewed By Expert Panel	CA025188	rs_397507389	19 SubmittersRCV000031692 RCV000045265 RCV000131688 RCV000195358 RCV000474278 RCV001171446 RCV005007916
NM_000059.4(BRCA2):c.7618C>A (p.Leu2540Met)	SNV Germline	Chr13:32357742	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome not specified Familial cancer of breast BRCA2-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA025194	rs_397507390	9 SubmittersRCV000031693 RCV000166080 RCV000545892 RCV002265573 RCV003473211 RCV004532457 RCV004998122
NM_000059.4(BRCA2):c.7643A>G (p.His2548Arg)	SNV Germline	Chr13:32357767	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome not specified Condition: not provided BRCA2-related disorder Familial cancer of breast	Criteria Provided Conflicting Classifications	CA025208	rs_80358992	12 SubmittersRCV000031694 RCV000045275 RCV000129573 RCV001193722 RCV004719666 RCV004732578 RCV004566778
NM_000059.4(BRCA2):c.7758G>A (p.Trp2586Ter)	SNV Germline/somatic	Chr13:32357882	Pathogenic	Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Malignant tumor of urinary bladder Familial cancer of breast	Reviewed By Expert Panel	CA025260	rs_80359004	20 SubmittersRCV000031698 RCV000255811 RCV000496860 RCV000569377 RCV003332090 RCV004566779
NM_000059.4(BRCA2):c.784G>A (p.Ala262Thr)	SNV Germline	Chr13:32331021	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome not specified Condition: not provided BRCA2-related cancer predisposition	Criteria Provided Conflicting Classifications	CA025308	rs_397507393	7 SubmittersRCV000031703 RCV000216411 RCV000230620 RCV002281725 RCV003476911 RCV004803072
NM_000059.4(BRCA2):c.7857G>A (p.Trp2619Ter)	SNV Germline	Chr13:32362574	Pathogenic	Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided Rhabdomyosarcoma Malignant tumor of breast Familial cancer of breast	Reviewed By Expert Panel	CA025311	rs_80359011	17 SubmittersRCV000031704 RCV000162936 RCV000496960 RCV000521372 RCV001257551 RCV001353730 RCV003473212
NM_000059.4(BRCA2):c.7868A>G (p.His2623Arg)	SNV Germline	Chr13:32362585	Pathogenic/Likely pathogenic	Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome not specified Condition: not provided Malignant tumor of breast Familial cancer of breast BRCA2-related cancer predisposition	Criteria Provided Multiple Submitters No Conflicts	CA025314	rs_80359012	17 SubmittersRCV000031705 RCV000045333 RCV000131271 RCV000480661 RCV000505960 RCV001353877 RCV003322593 RCV004803073
NM_000059.4(BRCA2):c.7878G>A (p.Trp2626Ter)	SNV Germline/somatic	Chr13:32362595	Pathogenic	Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Condition: not provided Hereditary cancer-predisposing syndrome Malignant tumor of breast Familial cancer of breast BRCA2-related disorder	Reviewed By Expert Panel	CA025318	rs_80359013	16 SubmittersRCV000031706 RCV000045335 RCV000237084 RCV000217125 RCV001353668 RCV003473213 RCV004528145
NM_000059.4(BRCA2):c.7878G>C (p.Trp2626Cys)	SNV Germline	Chr13:32362595	Pathogenic	Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided Breast and/or ovarian cancer Malignant tumor of breast Familial cancer of breast 8 conditions Uterine corpus cancer BRCA2-related cancer predisposition Breast-ovarian cancer, familial, susceptibility to, 1	Reviewed By Expert Panel	CA025319	rs_80359013	34 SubmittersRCV000031707 RCV000045336 RCV000163025 RCV000482471 RCV001271059 RCV001357728 RCV002288525 RCV002504846 RCV003128132 RCV004803074 RCV004783730
NM_000059.4(BRCA2):c.7963C>T (p.Gln2655Ter)	SNV Germline	Chr13:32362680	Pathogenic	Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome	Reviewed By Expert Panel	CA025356	rs_397507395	6 SubmittersRCV000031710 RCV001178396 RCV003529926
NM_000059.4(BRCA2):c.7974C>G (p.Tyr2658Ter)	SNV Germline	Chr13:32362691	Pathogenic	Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome	Reviewed By Expert Panel	CA025361	rs_80359025	11 SubmittersRCV000031711 RCV001723596 RCV002514125 RCV004018694
NM_000059.4(BRCA2):c.7975A>G (p.Arg2659Gly)	SNV Germline	Chr13:32362692	Pathogenic	Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome Familial cancer of breast	Reviewed By Expert Panel	CA025362	rs_80359026	15 SubmittersRCV000031712 RCV000572654 RCV001268917 RCV001325838 RCV002247404
NM_000059.4(BRCA2):c.7976G>A (p.Arg2659Lys)	SNV Germline	Chr13:32362693	Pathogenic/Likely pathogenic	Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided Ovarian neoplasm Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Malignant tumor of breast Familial cancer of breast BRCA2-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA025368	rs_80359027	31 SubmittersRCV000031713 RCV000045366 RCV000131687 RCV000212266 RCV000785230 RCV001171449 RCV001358381 RCV003473214 RCV004541048
NM_000059.4(BRCA2):c.7977-1G>C	SNV Germline	Chr13:32363178	Pathogenic	Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided Fanconi anemia complementation group D1 Hereditary breast ovarian cancer syndrome Familial cancer of breast BRCA2-related cancer predisposition Familial prostate cancer Inherited breast cancer and ovarian cancer	Reviewed By Expert Panel	CA025372	rs_81002874	24 SubmittersRCV000031714 RCV000045368 RCV000162588 RCV000486971 RCV003483442 RCV003473215 RCV004566780 RCV005357214 RCV006436406
NM_000059.4(BRCA2):c.8063T>C (p.Leu2688Pro)	SNV Germline	Chr13:32363265	Pathogenic/Likely pathogenic	Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided BRCA2-related cancer predisposition	Criteria Provided Multiple Submitters No Conflicts	CA025432	rs_80359045	10 SubmittersRCV000031719 RCV000045408 RCV000219486 RCV000505844 RCV004803075
NM_000059.4(BRCA2):c.8092G>A (p.Ala2698Thr)	SNV Germline	Chr13:32363294	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 2 not specified Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided Malignant tumor of breast Familial cancer of breast Inherited breast cancer and ovarian cancer Primary familial hypertrophic cardiomyopathy	Criteria Provided Conflicting Classifications	CA025451	rs_80359052	21 SubmittersRCV000031720 RCV000074554 RCV000129982 RCV000531554 RCV000755863 RCV001354237 RCV003607208 RCV004584180 RCV006250163
NM_000059.4(BRCA2):c.8117A>G (p.Asn2706Ser)	SNV Germline	Chr13:32363319	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome not specified Condition: not provided Hereditary breast ovarian cancer syndrome Chordoma Breast and/or ovarian cancer BRCA2-related cancer predisposition	Criteria Provided Conflicting Classifications	CA025459	rs_80359055	17 SubmittersRCV000031721 RCV000164845 RCV000424555 RCV000588306 RCV001086095 RCV002266909 RCV001798053 RCV005357215
NM_000059.4(BRCA2):c.8153T>C (p.Ile2718Thr)	SNV Germline	Chr13:32363355	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided BRCA2-related cancer predisposition	Criteria Provided Conflicting Classifications	CA025473	rs_80359060	11 SubmittersRCV000031722 RCV000045432 RCV000583191 RCV002305440 RCV004803076
NM_000059.4(BRCA2):c.8168A>G (p.Asp2723Gly)	SNV Germline	Chr13:32363370	Pathogenic	Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome Breast and/or ovarian cancer Gastric cancer Familial cancer of breast 8 conditions Breast-ovarian cancer, familial, susceptibility to, 2 Familial cancer of breast	Reviewed By Expert Panel	CA025484	rs_41293513	19 SubmittersRCV000031724 RCV000131682 RCV000216099 RCV000781040 RCV001271062 RCV003162282 RCV003460531 RCV005007918 RCV005357216
NM_000059.4(BRCA2):c.825A>T (p.Lys275Asn)	SNV Germline	Chr13:32332303	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided not specified BRCA2-related cancer predisposition	Criteria Provided Conflicting Classifications	CA025544	rs_397507399	11 SubmittersRCV000031730 RCV000131188 RCV000257932 RCV001283942 RCV001797593 RCV004803077
NM_000059.4(BRCA2):c.8309C>A (p.Ala2770Asp)	SNV Germline	Chr13:32363511	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome not specified BRCA2-related cancer predisposition	Criteria Provided Conflicting Classifications	CA025562	rs_28897750	11 SubmittersRCV000031734 RCV000130809 RCV000218650 RCV000637597 RCV001192649 RCV004803078
NM_000059.4(BRCA2):c.8331+1G>A	SNV Germline	Chr13:32363534	Pathogenic/Likely pathogenic	Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome Familial cancer of breast 8 conditions Inherited breast cancer and ovarian cancer	Criteria Provided Multiple Submitters No Conflicts	CA025578	rs_81002837	13 SubmittersRCV000031737 RCV000166511 RCV000212272 RCV001390937 RCV002250494 RCV004795942 RCV006272130
NM_000059.4(BRCA2):c.8350C>T (p.Arg2784Trp)	SNV Germline	Chr13:32370420	Pathogenic/Likely pathogenic	Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Chordoma Breast and/or ovarian cancer Familial cancer of breast BRCA2-related disorder 8 conditions BRCA2-related cancer predisposition	Criteria Provided Multiple Submitters No Conflicts	CA025593	rs_80359075	29 SubmittersRCV000031738 RCV000045487 RCV000131691 RCV000392114 RCV001267731 RCV002266910 RCV003149602 RCV003473218 RCV004532460 RCV004795943 RCV005357218
NM_000059.4(BRCA2):c.8360G>A (p.Arg2787His)	SNV Germline/somatic	Chr13:32370430	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary cancer-predisposing syndrome not specified Hereditary breast ovarian cancer syndrome BRCA2-related cancer predisposition Hereditary cancer	Criteria Provided Conflicting Classifications	CA025601	rs_80359078	15 SubmittersRCV000031739 RCV000212273 RCV000214554 RCV001174961 RCV001442600 RCV004803079 RCV005234817
NM_000059.4(BRCA2):c.8378G>A (p.Gly2793Glu)	SNV Germline	Chr13:32370448	Pathogenic/Likely pathogenic	Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided Familial cancer of breast	Criteria Provided Multiple Submitters No Conflicts	CA025614	rs_80359083	14 SubmittersRCV000045500 RCV000031740 RCV000165807 RCV000679191 RCV003473219
NM_000059.4(BRCA2):c.8378G>T (p.Gly2793Val)	SNV Germline	Chr13:32370448	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome	Criteria Provided Conflicting Classifications	CA025615	rs_80359083	8 SubmittersRCV000031741 RCV000569751 RCV003993754
NM_000059.4(BRCA2):c.8464A>T (p.Ile2822Phe)	SNV Germline	Chr13:32370534	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Familial cancer of breast Breast-ovarian cancer, familial, susceptibility to, 2	Criteria Provided Conflicting Classifications	CA025658	rs_397507403	4 SubmittersRCV000031743 RCV000222998 RCV001852626 RCV005357220
NM_000059.4(BRCA2):c.8486A>G (p.Gln2829Arg)	SNV Germline	Chr13:32370556	Pathogenic/Likely pathogenic	Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Breast and/or ovarian cancer Condition: not provided BRCA2-related cancer predisposition	Criteria Provided Multiple Submitters No Conflicts	CA025666	rs_80359100	15 SubmittersRCV000031744 RCV000510027 RCV000590582 RCV001170976 RCV001284445 RCV004803080
NM_000059.4(BRCA2):c.8487+1G>T	SNV Germline	Chr13:32370558	Pathogenic	Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA025671	rs_81002798	4 SubmittersRCV000031745 RCV000694757 RCV002444449
NM_000059.4(BRCA2):c.8488-1G>A	SNV Germline	Chr13:32370955	Pathogenic	Fanconi anemia complementation group D1 Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome 8 conditions BRCA2-related disorder Gastric cancer Familial cancer of breast BRCA2-related cancer predisposition Inherited breast cancer and ovarian cancer	Reviewed By Expert Panel	CA025677	rs_397507404	29 SubmittersRCV000009920 RCV000031747 RCV000160152 RCV000231355 RCV000213906 RCV000763329 RCV002221480 RCV003162283 RCV003473221 RCV004803081 RCV006261944
NM_000059.4(BRCA2):c.8567A>C (p.Glu2856Ala)	SNV Germline	Chr13:32371035	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided not specified Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Fanconi anemia complementation group D1 Breast and/or ovarian cancer BRCA2-related cancer predisposition	Criteria Provided Conflicting Classifications	CA025712	rs_11571747	39 SubmittersRCV000031751 RCV000034464 RCV000152885 RCV000131022 RCV000167825 RCV000371112 RCV000735613 RCV004803082
NM_000059.4(BRCA2):c.8593T>G (p.Leu2865Val)	SNV Germline	Chr13:32371061	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA025727	rs_80359117	6 SubmittersRCV000031754 RCV000574991 RCV001321925 RCV001551308
NM_000059.4(BRCA2):c.8633-2A>G	SNV Germline	Chr13:32376668	Pathogenic	Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome	Reviewed By Expert Panel	CA025749	rs_81002886	8 SubmittersRCV000031755 RCV002371796 RCV006461238
NM_000059.4(BRCA2):c.8633-4T>A	SNV Germline	Chr13:32376666	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome not specified Malignant tumor of breast Condition: not provided Hereditary cancer	Criteria Provided Conflicting Classifications	CA025751	rs_397507407	11 SubmittersRCV000031756 RCV000132191 RCV000122935 RCV000442944 RCV001353567 RCV003237417 RCV005600624
NM_000059.4(BRCA2):c.8647C>T (p.Pro2883Ser)	SNV Germline	Chr13:32376684	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome not specified Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA025759	rs_80359122	13 SubmittersRCV000031758 RCV000045590 RCV000417546 RCV000567301 RCV001703441
NM_000059.4(BRCA2):c.865A>G (p.Asn289Asp)	SNV Germline	Chr13:32332343	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided Breast and/or ovarian cancer not specified	Criteria Provided Conflicting Classifications	CA025766	rs_766173	17 SubmittersRCV000031759 RCV000045592 RCV000164485 RCV000589996 RCV001798054 RCV003488352
NM_000059.4(BRCA2):c.8677C>T (p.Gln2893Ter)	SNV Germline	Chr13:32376714	Pathogenic	Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Condition: not provided Hereditary cancer-predisposing syndrome 8 conditions Familial cancer of breast	Reviewed By Expert Panel	CA025776	rs_397507409	15 SubmittersRCV000031760 RCV000045600 RCV000413575 RCV001018169 RCV002482934 RCV003448249
NM_000059.4(BRCA2):c.8695C>T (p.Gln2899Ter)	SNV Germline	Chr13:32376732	Pathogenic	Breast-ovarian cancer, familial, susceptibility to, 2 Familial cancer of breast Hereditary cancer-predisposing syndrome not specified Hereditary breast ovarian cancer syndrome Condition: not provided BRCA2-related disorder	Reviewed By Expert Panel	CA025783	rs_397507411	14 SubmittersRCV000031762 RCV000045603 RCV000566353 RCV000506732 RCV000779984 RCV001269805 RCV005222711
NM_000059.4(BRCA2):c.8754+5G>A	SNV Germline	Chr13:32376796	Pathogenic/Likely pathogenic	Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome	Criteria Provided Multiple Submitters No Conflicts	CA025807	rs_81002813	11 SubmittersRCV000031765 RCV000571571 RCV001573455 RCV001852628
NM_000059.4(BRCA2):c.8755-1G>A	SNV Germline	Chr13:32379316	Pathogenic	Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome not specified Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 1 Malignant tumor of breast Carcinoma of pancreas Condition: not provided Familial cancer of breast	Reviewed By Expert Panel	CA025812	rs_81002812	26 SubmittersRCV000031766 RCV000131043 RCV000238986 RCV000220836 RCV001310186 RCV001357980 RCV001391220 RCV001529355 RCV003473223
NM_000059.4(BRCA2):c.8755-9T>A	SNV Germline	Chr13:32379308	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA025815	rs_397507413	3 SubmittersRCV000031767 RCV000811752 RCV001018281
NM_000059.4(BRCA2):c.8755-9T>C	SNV Germline	Chr13:32379308	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome	Criteria Provided Conflicting Classifications	CA025816	rs_397507413	6 SubmittersRCV000031768 RCV000766305 RCV000773154 RCV001081949
NM_000059.4(BRCA2):c.8817G>C (p.Lys2939Asn)	SNV Germline	Chr13:32379379	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome 8 conditions Hereditary breast ovarian cancer syndrome	Criteria Provided Conflicting Classifications	CA025835	rs_397507414	6 SubmittersRCV000031770 RCV000509817 RCV000765142 RCV001852629
NM_000059.4(BRCA2):c.8866G>C (p.Glu2956Gln)	SNV Germline	Chr13:32379428	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome Familial cancer of breast	Criteria Provided Conflicting Classifications	CA025854	rs_142040996	10 SubmittersRCV000031771 RCV000220440 RCV000589427 RCV000690405 RCV004566782
NM_000059.4(BRCA2):c.8867A>C (p.Glu2956Ala)	SNV Germline	Chr13:32379429	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome not specified Condition: not provided BRCA2-related disorder	Criteria Provided Conflicting Classifications	CA025855	rs_151174152	13 SubmittersRCV000031772 RCV000130252 RCV000476614 RCV000781140 RCV000985609 RCV004532462
NM_000059.4(BRCA2):c.8869C>T (p.Gln2957Ter)	SNV Germline	Chr13:32379431	Pathogenic	Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Breast and/or ovarian cancer Familial cancer of breast Breast-ovarian cancer, familial, susceptibility to, 2	Reviewed By Expert Panel	CA025856	rs_276174913	11 SubmittersRCV000031773 RCV001018424 RCV001174641 RCV001798055 RCV005364902
NM_000059.4(BRCA2):c.887A>G (p.Tyr296Cys)	SNV Germline	Chr13:32332365	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome not specified Condition: not provided Hereditary breast ovarian cancer syndrome Cholangiocarcinoma BRCA2-related cancer predisposition	Criteria Provided Conflicting Classifications	CA025860	rs_45457795	14 SubmittersRCV000031774 RCV000129101 RCV000168545 RCV000588297 RCV001086214 RCV005888837 RCV005364903
NM_000059.4(BRCA2):c.8918G>A (p.Arg2973His)	SNV Germline	Chr13:32379480	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided not specified Neuroblastoma Breast and/or ovarian cancer Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Familial cancer of breast	Criteria Provided Conflicting Classifications	CA025874	rs_80359143	17 SubmittersRCV000031777 RCV000128971 RCV000587937 RCV000505714 RCV000761134 RCV000770734 RCV001082957 RCV005357222
NM_000059.4(BRCA2):c.8951C>G (p.Ser2984Ter)	SNV Germline	Chr13:32379513	Pathogenic	Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome	Reviewed By Expert Panel	CA025886	rs_80359146	7 SubmittersRCV000114019 RCV000496423 RCV002371797
NM_000059.4(BRCA2):c.8953+1G>T	SNV Germline	Chr13:32379516	Pathogenic	Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided Familial cancer of breast Thyroid cancer, nonmedullary, 1	Reviewed By Expert Panel	CA025890	rs_81002882	20 SubmittersRCV000031781 RCV000131051 RCV000213611 RCV000254648 RCV003473224 RCV005888838
NM_000059.4(BRCA2):c.9004G>A (p.Glu3002Lys)	SNV Germline	Chr13:32379800	Pathogenic/Likely pathogenic	Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Breast and/or ovarian cancer Malignant tumor of breast Familial cancer of breast	Criteria Provided Multiple Submitters No Conflicts	CA025920	rs_80359152	24 SubmittersRCV000031784 RCV000045685 RCV000130642 RCV000195385 RCV000735616 RCV001353997 RCV002247405
NM_000059.4(BRCA2):c.9016T>G (p.Tyr3006Asp)	SNV Germline	Chr13:32379812	Pathogenic	Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided Familial cancer of breast BRCA2-related cancer predisposition	Reviewed By Expert Panel	CA025928	rs_397507416	9 SubmittersRCV000031785 RCV000132244 RCV000465067 RCV001775545 RCV004566783 RCV006276055
NM_000059.4(BRCA2):c.9019A>G (p.Arg3007Gly)	SNV Germline	Chr13:32379815	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 2 not specified Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Breast and/or ovarian cancer Condition: not provided Malignant tumor of breast BRCA2-related disorder	Criteria Provided Conflicting Classifications	CA025931	rs_397507417	12 SubmittersRCV000031786 RCV000160163 RCV000167398 RCV000167961 RCV000735617 RCV000766653 RCV001353884 RCV004532463
NM_000059.4(BRCA2):c.9076C>T (p.Gln3026Ter)	SNV Germline	Chr13:32379872	Pathogenic	Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided Breast and/or ovarian cancer Malignant tumor of breast Gastric cancer Familial cancer of breast BRCA2-related disorder	Reviewed By Expert Panel	CA025962	rs_80359159	22 SubmittersRCV000031790 RCV000045706 RCV000131038 RCV000413921 RCV000735618 RCV001353572 RCV003162284 RCV003473225 RCV004532464
NM_000059.4(BRCA2):c.9101A>G (p.Gln3034Arg)	SNV Germline	Chr13:32379897	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Malignant tumor of breast Condition: not provided not specified Familial cancer of breast	Criteria Provided Conflicting Classifications	CA025979	rs_80359164	11 SubmittersRCV000031793 RCV000045716 RCV000132242 RCV000481121 RCV000657016 RCV001375581 RCV004566784
NM_000059.4(BRCA2):c.9104A>C (p.Tyr3035Ser)	SNV Germline	Chr13:32379900	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome not specified Condition: not provided Breast and/or ovarian cancer Malignant tumor of breast BRCA2-related disorder Inherited breast cancer and ovarian cancer Pilocytic astrocytoma	Criteria Provided Conflicting Classifications	CA025980	rs_80359165	23 SubmittersRCV000031794 RCV000045717 RCV000130861 RCV000120368 RCV000589726 RCV000735620 RCV001353989 RCV004732581 RCV005430470 RCV006454644
NM_000059.4(BRCA2):c.9106C>G (p.Gln3036Glu)	SNV Germline	Chr13:32379902	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Fanconi anemia complementation group D1 not specified Familial cancer of breast Familial pancreatic carcinoma	Criteria Provided Conflicting Classifications	CA025983	rs_202155613	13 SubmittersRCV000031795 RCV000074559 RCV000223314 RCV000289162 RCV000344086 RCV002271381 RCV002250496 RCV005357224
NM_000059.4(BRCA2):c.9116C>G (p.Pro3039Arg)	SNV Germline	Chr13:32379912	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome Breast and/or ovarian cancer	Criteria Provided Conflicting Classifications	CA025987	rs_80359167	9 SubmittersRCV000031796 RCV000130896 RCV000213291 RCV000707640 RCV003492320
NM_000059.4(BRCA2):c.9117G>A (p.Pro3039=)	SNV Germline	Chr13:32379913	Pathogenic	Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Condition: not provided Hereditary cancer-predisposing syndrome 9 conditions 8 conditions Breast-ovarian cancer, familial, susceptibility to, 1 Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Breast carcinoma Familial cancer of breast Gastric cancer BRCA2-related cancer predisposition Hereditary breast ovarian cancer syndrome Fanconi anemia complementation group D1	Reviewed By Expert Panel	CA025994	rs_28897756	37 SubmittersRCV000031798 RCV000045725 RCV000074560 RCV000131039 RCV000515207 RCV000763330 RCV001310189 RCV001171453 RCV001554310 RCV003473227 RCV003162286 RCV004566785 RCV005624714
NM_000059.4(BRCA2):c.9118-6C>T	SNV Germline	Chr13:32380001	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 2 not specified Hereditary breast ovarian cancer syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA025997	rs_81002890	7 SubmittersRCV000031799 RCV000439624 RCV001423115 RCV004998123
NM_000059.4(BRCA2):c.9155G>A (p.Arg3052Gln)	SNV Germline/somatic	Chr13:32380044	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary cancer-predisposing syndrome Breast and/or ovarian cancer Hereditary breast ovarian cancer syndrome BRCA2-related disorder Malignant tumor of urinary bladder	Criteria Provided Conflicting Classifications	CA026007	rs_80359171	12 SubmittersRCV000031800 RCV000045733 RCV000131685 RCV000768640 RCV001086321 RCV004532466 RCV003332091
NM_000059.4(BRCA2):c.9177A>C (p.Lys3059Asn)	SNV Germline	Chr13:32380066	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome not specified Hereditary breast ovarian cancer syndrome Condition: not provided Familial cancer of breast	Criteria Provided Conflicting Classifications	CA026017	rs_201561974	10 SubmittersRCV000031801 RCV000166162 RCV000779930 RCV000807864 RCV001588837 RCV004566786
NM_000059.4(BRCA2):c.9195T>A (p.Phe3065Leu)	SNV Germline	Chr13:32380084	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA026026	rs_80359179	4 SubmittersRCV000031802 RCV000709339 RCV002371798
NM_000059.4(BRCA2):c.9242T>C (p.Val3081Ala)	SNV Germline	Chr13:32380131	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 2 not specified Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided BRCA2-related disorder Familial prostate cancer	Criteria Provided Conflicting Classifications	CA026046	rs_80359189	16 SubmittersRCV000031805 RCV000045755 RCV000129976 RCV000203623 RCV001284113 RCV004732582 RCV005357225
NM_000059.4(BRCA2):c.9253A>C (p.Thr3085Pro)	SNV Germline	Chr13:32380142	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 2 not specified Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided BRCA2-related disorder	Criteria Provided Conflicting Classifications	CA026053	rs_397507423	11 SubmittersRCV000031807 RCV000439515 RCV000509957 RCV000557691 RCV000587457 RCV004532468
NM_000059.4(BRCA2):c.9294C>A (p.Tyr3098Ter)	SNV Germline	Chr13:32394726	Pathogenic	Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome	Reviewed By Expert Panel	CA026093	rs_80359200	10 SubmittersRCV000031811 RCV000496360 RCV002371799
NM_000059.4(BRCA2):c.9294C>G (p.Tyr3098Ter)	SNV Germline	Chr13:32394726	Pathogenic	Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 1 Familial cancer of breast 8 conditions BRCA2-related cancer predisposition Inherited breast cancer and ovarian cancer	Reviewed By Expert Panel	CA026094	rs_80359200	28 SubmittersRCV000031812 RCV000074562 RCV000045784 RCV000131041 RCV000210096 RCV000465472 RCV000763331 RCV004803089 RCV006277674
NM_000059.4(BRCA2):c.9302T>G (p.Leu3101Arg)	SNV Germline	Chr13:32394734	Pathogenic/Likely pathogenic	Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided Breast and/or ovarian cancer Familial cancer of breast Inherited breast cancer and ovarian cancer NICE approved PARP inhibitor treatment BRCA2-related cancer predisposition	Criteria Provided Multiple Submitters No Conflicts	CA026098	rs_28897758	16 SubmittersRCV000031813 RCV000045787 RCV000162632 RCV000657062 RCV001798057 RCV003473230 RCV004691728 RCV004584181 RCV004803090
NM_000059.4(BRCA2):c.9320T>C (p.Ile3107Thr)	SNV Germline	Chr13:32394752	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome not specified	Criteria Provided Conflicting Classifications	CA026104	rs_397507425	5 SubmittersRCV000031814 RCV000164259 RCV001202106 RCV005237447
NM_000059.4(BRCA2):c.9353T>C (p.Met3118Thr)	SNV Germline	Chr13:32394785	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Breast neoplasm not specified Condition: not provided BRCA2-related disorder	Criteria Provided Conflicting Classifications	CA026112	rs_56204128	14 SubmittersRCV000031815 RCV000045797 RCV000131368 RCV000148437 RCV000484041 RCV001508342 RCV004541053
NM_000059.4(BRCA2):c.9371A>T (p.Asn3124Ile)	SNV Germline	Chr13:32394803	Pathogenic	Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided Familial cancer of breast Breast and/or ovarian cancer Malignant tumor of breast Breast-ovarian cancer, familial, susceptibility to, 1 BRCA2-related cancer predisposition	Reviewed By Expert Panel	CA026119	rs_28897759	42 SubmittersRCV000031816 RCV000045802 RCV000130337 RCV000505786 RCV000585706 RCV001271066 RCV001353921 RCV001310163 RCV004803091
NM_000059.4(BRCA2):c.9380G>A (p.Trp3127Ter)	SNV Germline	Chr13:32394812	Pathogenic	Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome Malignant tumor of breast Breast and/or ovarian cancer Familial cancer of breast Breast-ovarian cancer, familial, susceptibility to, 1	Reviewed By Expert Panel	CA026126	rs_80359211	20 SubmittersRCV000031818 RCV000131047 RCV000485069 RCV000781092 RCV001355462 RCV001798058 RCV003473232 RCV006612201
NM_000059.4(BRCA2):c.9383G>A (p.Arg3128Gln)	SNV Germline	Chr13:32394815	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Malignant tumor of breast Hereditary breast ovarian cancer syndrome Condition: not provided BRCA2-related cancer predisposition	Criteria Provided Conflicting Classifications	CA026128	rs_397507427	7 SubmittersRCV000031819 RCV000130023 RCV000500827 RCV000705810 RCV000985626 RCV004803093
NM_000059.4(BRCA2):c.9385C>T (p.Pro3129Ser)	SNV Germline	Chr13:32394817	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome BRCA2-related cancer predisposition	Criteria Provided Conflicting Classifications	CA026131	rs_80359213	5 SubmittersRCV000031820 RCV000773159 RCV000823907 RCV004803094
NM_000059.4(BRCA2):c.938C>T (p.Ser313Phe)	SNV Germline	Chr13:32332416	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA026132	rs_397507428	11 SubmittersRCV000031821 RCV000129312 RCV000467684 RCV001251312 RCV003234932
NM_000059.4(BRCA2):c.9523G>T (p.Glu3175Ter)	SNV Germline	Chr13:32396919	Pathogenic	Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome BRCA2-related disorder	Reviewed By Expert Panel	CA026199	rs_397507430	8 SubmittersRCV000031829 RCV000496351 RCV002371800 RCV003483443
NM_000059.4(BRCA2):c.956A>C (p.Asn319Thr)	SNV Germline	Chr13:32332434	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 2 not specified Hereditary cancer-predisposing syndrome Breast and/or ovarian cancer Condition: not provided Fanconi anemia complementation group D1 Hereditary breast ovarian cancer syndrome Malignant tumor of breast BRCA2-related cancer predisposition	Criteria Provided Conflicting Classifications	CA026214	rs_55939572	20 SubmittersRCV000031831 RCV000045855 RCV000162692 RCV000735629 RCV000758980 RCV001109312 RCV001083417 RCV001357124 RCV004803095
NM_000059.4(BRCA2):c.9581C>A (p.Pro3194Gln)	SNV Germline	Chr13:32396977	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome not specified Condition: not provided BRCA2-related disorder BRCA2-related cancer predisposition	Criteria Provided Conflicting Classifications	CA026221	rs_28897760	13 SubmittersRCV000031833 RCV000045860 RCV000131306 RCV000160173 RCV001719713 RCV004532471 RCV004803096
NM_000059.4(BRCA2):c.9586A>G (p.Lys3196Glu)	SNV Germline	Chr13:32396982	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 2 not specified Hereditary cancer-predisposing syndrome Breast neoplasm Condition: not provided Breast and/or ovarian cancer Hereditary breast ovarian cancer syndrome Malignant tumor of breast	Criteria Provided Conflicting Classifications	CA026224	rs_80359228	21 SubmittersRCV000031834 RCV000045862 RCV000129724 RCV000148420 RCV000586984 RCV000735631 RCV001080657 RCV001269375
NM_000059.4(BRCA2):c.9599C>G (p.Ser3200Ter)	SNV Germline	Chr13:32396995	Pathogenic	Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Familial cancer of breast 8 conditions Inherited ovarian cancer (without breast cancer) Inherited breast cancer and ovarian cancer	Reviewed By Expert Panel	CA026227	rs_80359230	13 SubmittersRCV000031836 RCV000519756 RCV000496835 RCV001019520 RCV003473235 RCV004795944 RCV005237449 RCV005237448
NM_000059.4(BRCA2):c.9616C>G (p.Gln3206Glu)	SNV Germline	Chr13:32397012	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided Familial cancer of breast	Criteria Provided Conflicting Classifications	CA026236	rs_80359233	10 SubmittersRCV000031838 RCV000045868 RCV000217224 RCV001582503 RCV004566788
NM_000059.4(BRCA2):c.971G>C (p.Arg324Thr)	SNV Germline	Chr13:32332449	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided not specified BRCA2-related disorder	Criteria Provided Conflicting Classifications	CA026281	rs_397507435	13 SubmittersRCV000031844 RCV000130515 RCV000457938 RCV000985254 RCV001193321 RCV004532472
NM_000059.4(BRCA2):c.9728C>T (p.Pro3243Leu)	SNV Germline	Chr13:32398241	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 2 not specified Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided Breast and/or ovarian cancer Malignant tumor of breast BRCA2-related disorder	Criteria Provided Conflicting Classifications	CA026285	rs_80359241	17 SubmittersRCV000031845 RCV000045892 RCV000166251 RCV000167844 RCV000587179 RCV000735633 RCV001353590 RCV004532473
NM_000059.4(BRCA2):c.9934A>G (p.Ile3312Val)	SNV Germline	Chr13:32398447	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome not specified BRCA2-related disorder Familial cancer of breast Breast-ovarian cancer, familial, susceptibility to, 2	Criteria Provided Conflicting Classifications	CA026337	rs_80359254	12 SubmittersRCV000031848 RCV000482595 RCV000573263 RCV001315624 RCV001264611 RCV004732583 RCV005357227
NM_000051.4(ATM):c.6200C>A (p.Ala2067Asp)	SNV Germline	Chr11:108317374	Pathogenic/Likely pathogenic	Ataxia - telangiectasia variant Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome Familial cancer of breast Ataxia-telangiectasia syndrome Condition: not provided Malignant tumor of breast Familial cancer of breast Breast and/or ovarian cancer Hereditary breast ovarian cancer syndrome	Criteria Provided Multiple Submitters No Conflicts	CA130514	rs_397514577	19 SubmittersRCV000032965 RCV000166627 RCV000258124 RCV000762825 RCV001268054 RCV001356731 RCV001762078 RCV003492323 RCV004760349
NM_000059.4(BRCA2):c.1022G>T (p.Cys341Phe)	SNV Germline	Chr13:32332500	Conflicting classifications of pathogenicity	Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome	Criteria Provided Conflicting Classifications	CA010516	rs_80358403	11 SubmittersRCV000034425 RCV000083084 RCV000164099 RCV001089032
NM_000059.4(BRCA2):c.3562A>G (p.Ile1188Val)	SNV Germline	Chr13:32337917	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 not specified	Criteria Provided Conflicting Classifications	CA018345	rs_202230438	9 SubmittersRCV000034438 RCV000132042 RCV000465606 RCV003996168 RCV004562224
NM_000059.4(BRCA2):c.5554G>T (p.Val1852Phe)	SNV Germline	Chr13:32339909	Conflicting classifications of pathogenicity	Condition: not provided Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA022551	rs_80358777	4 SubmittersRCV000034448 RCV001304476 RCV002345269
NM_000059.4(BRCA2):c.6325G>A (p.Val2109Ile)	SNV Germline	Chr13:32340680	Conflicting classifications of pathogenicity	Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Breast neoplasm Fanconi anemia complementation group D1 Malignant tumor of pancreas Malignant tumor of breast not specified Familial cancer of breast BRCA2-related disorder	Criteria Provided Conflicting Classifications	CA023912	rs_79456940	20 SubmittersRCV000034454 RCV000113573 RCV000129753 RCV000195307 RCV000240685 RCV000406166 RCV000677821 RCV001353658 RCV001818210 RCV002250503 RCV004541066
NM_000059.4(BRCA2):c.7504C>T (p.Arg2502Cys)	SNV Germline	Chr13:32356496	Conflicting classifications of pathogenicity	Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Breast and/or ovarian cancer Hereditary cancer-predisposing syndrome not specified BRCA2-related disorder	Criteria Provided Conflicting Classifications	CA025120	rs_55716624	25 SubmittersRCV000034459 RCV000077403 RCV000045233 RCV000148436 RCV000131136 RCV000168602 RCV004534718
NM_000059.4(BRCA2):c.8687G>A (p.Arg2896His)	SNV Germline	Chr13:32376724	Conflicting classifications of pathogenicity	Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome not specified Hereditary breast ovarian cancer syndrome Malignant tumor of breast	Criteria Provided Conflicting Classifications	CA025781	rs_80359128	15 SubmittersRCV000034466 RCV000077448 RCV000129089 RCV000418186 RCV001086184 RCV001353522
NM_000059.4(BRCA2):c.8941G>A (p.Glu2981Lys)	SNV Germline	Chr13:32379503	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Familial cancer of breast Breast-ovarian cancer, familial, susceptibility to, 2	Criteria Provided Conflicting Classifications	CA025880	rs_139052578	11 SubmittersRCV000034470 RCV000130691 RCV001364532 RCV003473252 RCV003996169
NM_000251.3(MSH2):c.2425G>A (p.Glu809Lys)	SNV Germline	Chr2:47478486	Conflicting classifications of pathogenicity	Condition: not provided not specified Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Hereditary nonpolyposis colorectal neoplasms Lynch syndrome 1 Malignant tumor of breast Hereditary nonpolyposis colon cancer MSH2-related disorder	Criteria Provided Conflicting Classifications	CA020577	rs_202145681	15 SubmittersRCV000034556 RCV000121564 RCV000129519 RCV001030484 RCV001080801 RCV001093691 RCV001356651 RCV001787035 RCV004534720
NM_000546.6(TP53):c.31G>C (p.Glu11Gln)	SNV Germline	Chr17:7676564	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome not specified Li-Fraumeni syndrome Hereditary breast ovarian cancer syndrome Li-Fraumeni syndrome 1 TP53-related disorder	Criteria Provided Conflicting Classifications	CA000106	rs_201382018	16 SubmittersRCV000034640 RCV000161016 RCV000213044 RCV000226569 RCV001030742 RCV001124310 RCV003924896
NM_007294.4(BRCA1):c.1849A>G (p.Thr617Ala)	SNV Germline	Chr17:43093682	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 1 Hereditary breast ovarian cancer syndrome not specified	Criteria Provided Conflicting Classifications	CA001205	rs_45564238	10 SubmittersRCV000034729 RCV000130111 RCV000409706 RCV000416510 RCV003226173
NM_007294.4(BRCA1):c.2783G>A (p.Gly928Asp)	SNV Germline	Chr17:43092748	Conflicting classifications of pathogenicity	Condition: not provided Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA001830	rs_202004680	8 SubmittersRCV000034736 RCV000227370 RCV000221501 RCV003996179
NM_007294.4(BRCA1):c.3962C>G (p.Ser1321Cys)	SNV Germline	Chr17:43091569	Conflicting classifications of pathogenicity	Condition: not provided Hereditary breast ovarian cancer syndrome not specified Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA002536	rs_386833394	5 SubmittersRCV000034746 RCV001324869 RCV001804755 RCV003156731
NM_007294.4(BRCA1):c.4903G>A (p.Glu1635Lys)	SNV Germline	Chr17:43071011	Conflicting classifications of pathogenicity	Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 1 Hereditary cancer-predisposing syndrome Breast and/or ovarian cancer Hereditary breast ovarian cancer syndrome BRCA1-related disorder	Criteria Provided Conflicting Classifications	CA003072	rs_200432771	10 SubmittersRCV000034755 RCV000410023 RCV000509803 RCV000769712 RCV001071216 RCV004758618
NM_007294.4(BRCA1):c.5005G>T (p.Ala1669Ser)	SNV Germline	Chr17:43067677	Conflicting classifications of pathogenicity	Condition: not provided not specified Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial, susceptibility to, 1 Breast and/or ovarian cancer Breast carcinoma Hereditary breast ovarian cancer syndrome Familial cancer of breast Malignant tumor of breast Fanconi anemia, complementation group S	Criteria Provided Conflicting Classifications	CA003152	rs_80357087	24 SubmittersRCV000034757 RCV000048736 RCV000130911 RCV000112461 RCV000148380 RCV000414907 RCV001079653 RCV001197438 RCV001353726 RCV005357258
NM_007294.4(BRCA1):c.5113C>G (p.Leu1705Val)	SNV Germline	Chr17:43063913	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA003246	rs_80356858	6 SubmittersRCV000034758 RCV000132233 RCV000229512 RCV001076405
NM_000260.4(MYO7A):c.3476G>T (p.Gly1159Val)	SNV Germline	Chr11:77184688	Pathogenic/Likely pathogenic	Rare genetic deafness Condition: not provided Autosomal recessive nonsyndromic hearing loss 2 Retinal dystrophy Hearing loss Usher syndrome type 1B Autosomal recessive nonsyndromic hearing loss 2 Autosomal dominant nonsyndromic hearing loss 11 Usher syndrome type 1 Hereditary breast ovarian cancer syndrome MYO7A-related disorder Monogenic hearing loss	Criteria Provided Multiple Submitters No Conflicts	CA132291	rs_199897298	18 SubmittersRCV000036110 RCV000312187 RCV000664879 RCV001073977 RCV001270103 RCV001272512 RCV002496550 RCV004541086 RCV004579535 RCV006451768
NM_000059.4(BRCA2):c.10024G>T (p.Glu3342Ter)	SNV Germline	Chr13:32398537	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome not specified Condition: not provided Hereditary breast ovarian cancer syndrome	Criteria Provided Conflicting Classifications	CA010072	rs_28897761	9 SubmittersRCV000112832 RCV000129731 RCV000422123 RCV000588538 RCV001483406
NM_000059.4(BRCA2):c.10070C>T (p.Thr3357Ile)	SNV Germline	Chr13:32398583	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided not specified Hereditary breast ovarian cancer syndrome	Criteria Provided Conflicting Classifications	CA010135	rs_80358388	7 SubmittersRCV000112834 RCV000130535 RCV000212292 RCV000779914 RCV001346739
NM_000059.4(BRCA2):c.10076A>G (p.Glu3359Gly)	SNV Germline	Chr13:32398589	Conflicting classifications of pathogenicity	Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA010155	rs_80358389	11 SubmittersRCV000043708 RCV000112835 RCV000222126 RCV000781059 RCV001090323
NM_000059.4(BRCA2):c.10089A>G (p.Ile3363Met)	SNV Germline	Chr13:32398602	Conflicting classifications of pathogenicity	Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome not specified Condition: not provided Malignant tumor of breast	Criteria Provided Conflicting Classifications	CA010190	rs_80358390	16 SubmittersRCV000043709 RCV000112836 RCV000131377 RCV000425048 RCV000588809 RCV001353943
NM_000059.4(BRCA2):c.100G>T (p.Glu34Ter)	SNV Germline	Chr13:32319109	Pathogenic	Familial cancer of breast Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided 8 conditions Familial cancer of breast Breast-ovarian cancer, familial, susceptibility to, 2	Reviewed By Expert Panel	CA010238	rs_80358391	18 SubmittersRCV000043711 RCV000113128 RCV000222288 RCV000496610 RCV000657625 RCV000762914 RCV005357284
NM_000059.4(BRCA2):c.10105A>G (p.Thr3369Ala)	SNV Germline	Chr13:32398618	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 2 not specified Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA010254	rs_80358392	5 SubmittersRCV000112840 RCV000429325 RCV001852914 RCV005781914 RCV006258945
NM_000059.4(BRCA2):c.10120A>G (p.Thr3374Ala)	SNV Germline	Chr13:32398633	Conflicting classifications of pathogenicity	Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided BRCA2-related cancer predisposition not specified	Criteria Provided Conflicting Classifications	CA010315	rs_80358395	11 SubmittersRCV000043717 RCV000112843 RCV000166051 RCV001284405 RCV005357285 RCV006456651
NM_000059.4(BRCA2):c.1012G>A (p.Ala338Thr)	SNV Germline	Chr13:32332490	Conflicting classifications of pathogenicity	Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided Fanconi anemia complementation group D1 not specified	Criteria Provided Conflicting Classifications	CA010336	rs_80358396	15 SubmittersRCV000043719 RCV000112875 RCV000509731 RCV000759572 RCV001111640 RCV001280581
NM_000059.4(BRCA2):c.10150C>T (p.Arg3384Ter)	SNV Germline/somatic	Chr13:32398663	Conflicting classifications of pathogenicity	Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 not specified Hereditary cancer-predisposing syndrome Malignant tumor of pancreas Condition: not provided Familial cancer of breast Gastric cancer BRCA2-related cancer predisposition	Criteria Provided Conflicting Classifications	CA010347	rs_397507568	15 SubmittersRCV000043720 RCV000112844 RCV000438903 RCV000565885 RCV000677846 RCV001719790 RCV002250507 RCV003162361 RCV004806043
NM_000059.4(BRCA2):c.10151G>A (p.Arg3384Gln)	SNV Germline	Chr13:32398664	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome not specified BRCA2-related cancer predisposition	Criteria Provided Conflicting Classifications	CA010355	rs_80358397	7 SubmittersRCV000112845 RCV000212293 RCV000571209 RCV001314535 RCV001804767 RCV004803133
NM_000059.4(BRCA2):c.10202C>T (p.Thr3401Met)	SNV Germline	Chr13:32398715	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome not specified Condition: not provided Hereditary breast ovarian cancer syndrome	Criteria Provided Conflicting Classifications	CA010443	rs_55853199	18 SubmittersRCV000077247 RCV000132503 RCV000435257 RCV000755872 RCV001083163
NM_000059.4(BRCA2):c.10220A>G (p.Asn3407Ser)	SNV Germline	Chr13:32398733	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome not specified Condition: not provided Hereditary breast ovarian cancer syndrome	Criteria Provided Conflicting Classifications	CA010482	rs_80358401	11 SubmittersRCV000112850 RCV000129602 RCV000212294 RCV000589028 RCV001370256
NM_000059.4(BRCA2):c.10222A>T (p.Lys3408Ter)	SNV Germline	Chr13:32398735	Conflicting classifications of pathogenicity	Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA010501	rs_80358402	10 SubmittersRCV000043728 RCV000112851 RCV000131732 RCV000212295 RCV000759573
NM_000059.4(BRCA2):c.10230C>A (p.Asp3410Glu)	SNV Germline	Chr13:32398743	Conflicting classifications of pathogenicity	Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Malignant tumor of breast Condition: not provided Hereditary cancer-predisposing syndrome not specified Familial cancer of breast	Criteria Provided Conflicting Classifications	CA010527	rs_80358404	10 SubmittersRCV000043730 RCV000112852 RCV000500767 RCV000679152 RCV001017039 RCV001818216 RCV003460558
NM_000059.4(BRCA2):c.1033A>G (p.Lys345Glu)	SNV Germline	Chr13:32332511	Conflicting classifications of pathogenicity	Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA010607	rs_80358406	6 SubmittersRCV000043733 RCV000112877 RCV000562927 RCV003237419
NM_000059.4(BRCA2):c.10G>T (p.Gly4Ter)	SNV Germline	Chr13:32316470	Pathogenic	Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 2 Breast and/or ovarian cancer Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome	Reviewed By Expert Panel	CA010813	rs_397507571	10 SubmittersRCV000239090 RCV000257718 RCV000769679 RCV001017301 RCV001384947
NM_000059.4(BRCA2):c.1103C>A (p.Ser368Ter)	SNV Germline	Chr13:32332581	Pathogenic	Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided Familial cancer of breast	Reviewed By Expert Panel	CA010822	rs_80358407	13 SubmittersRCV000043738 RCV000112879 RCV000222511 RCV000258963 RCV003473300
NM_000059.4(BRCA2):c.1117C>T (p.Gln373Ter)	SNV Germline	Chr13:32332595	Pathogenic	Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome	Reviewed By Expert Panel	CA010847	rs_397507572	4 SubmittersRCV000256631 RCV000585682 RCV002433529
NM_000059.4(BRCA2):c.1124C>T (p.Pro375Leu)	SNV Germline	Chr13:32332602	Conflicting classifications of pathogenicity	Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome not specified Condition: not provided Familial cancer of breast	Criteria Provided Conflicting Classifications	CA010864	rs_80358409	12 SubmittersRCV000043741 RCV000077250 RCV000219251 RCV000423315 RCV001703941 RCV002288542
NM_000059.4(BRCA2):c.1127T>G (p.Phe376Cys)	SNV Germline	Chr13:32332605	Conflicting classifications of pathogenicity	not specified Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided BRCA2-related cancer predisposition	Criteria Provided Conflicting Classifications	CA010888	rs_80358410	13 SubmittersRCV000043742 RCV000112882 RCV000130007 RCV000203669 RCV001719792 RCV004803134
NM_000059.4(BRCA2):c.1153A>T (p.Lys385Ter)	SNV Germline	Chr13:32332631	Pathogenic	Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome	Reviewed By Expert Panel	CA010988	rs_80358411	7 SubmittersRCV000112887 RCV000561185 RCV000657628 RCV002514183
NM_000059.4(BRCA2):c.1180G>T (p.Glu394Ter)	SNV Germline	Chr13:32332658	Pathogenic	Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome	Reviewed By Expert Panel	CA011059	rs_397507575	2 SubmittersRCV000661426 RCV002514184
NM_000059.4(BRCA2):c.1183T>G (p.Trp395Gly)	SNV Germline	Chr13:32332661	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome	Criteria Provided Conflicting Classifications	CA011077	rs_80358412	5 SubmittersRCV000112888 RCV001010084 RCV001317443
NM_000059.4(BRCA2):c.1211A>T (p.Asn404Ile)	SNV Germline	Chr13:32332689	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome BRCA2-related cancer predisposition	Criteria Provided Conflicting Classifications	CA011175	rs_80358414	9 SubmittersRCV000112892 RCV000588048 RCV000773258 RCV001302330 RCV004803136
NM_000059.4(BRCA2):c.1225G>A (p.Glu409Lys)	SNV Germline	Chr13:32332703	Conflicting classifications of pathogenicity	Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA011235	rs_80358416	9 SubmittersRCV000043761 RCV000112895 RCV000164321 RCV000679154 RCV001251342
NM_000059.4(BRCA2):c.1244A>G (p.His415Arg)	SNV Germline	Chr13:32332722	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided Hereditary cancer-predisposing syndrome Breast and/or ovarian cancer not specified Hereditary breast ovarian cancer syndrome EBV-positive nodal T- and NK-cell lymphoma BRCA2-related cancer predisposition	Criteria Provided Conflicting Classifications	CA011305	rs_80358417	17 SubmittersRCV000112899 RCV000160035 RCV000165768 RCV000735440 RCV000780016 RCV001084688 RCV004558293 RCV004803137
NM_000059.4(BRCA2):c.1247T>G (p.Ile416Ser)	SNV Germline	Chr13:32332725	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Fanconi anemia complementation group D1 Condition: not provided Hereditary breast ovarian cancer syndrome not specified	Criteria Provided Conflicting Classifications	CA011324	rs_80358418	12 SubmittersRCV000077253 RCV000129196 RCV001112107 RCV001284073 RCV001394892 RCV004700317
NM_000059.4(BRCA2):c.1261C>T (p.Gln421Ter)	SNV Germline/somatic	Chr13:32332739	Pathogenic	Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Gastric cancer Malignant tumor of urinary bladder	Reviewed By Expert Panel	CA011382	rs_80358419	12 SubmittersRCV000112900 RCV000131850 RCV000496684 RCV003162362 RCV003332097
NM_000059.4(BRCA2):c.1315T>G (p.Phe439Val)	SNV Germline	Chr13:32332793	Conflicting classifications of pathogenicity	Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided not specified BRCA2-related disorder	Criteria Provided Conflicting Classifications	CA011580	rs_80358420	10 SubmittersRCV000043780 RCV000112907 RCV000162696 RCV000757039 RCV001526976 RCV004541230
NM_000059.4(BRCA2):c.1325C>T (p.Ser442Leu)	SNV Germline	Chr13:32332803	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome	Criteria Provided Conflicting Classifications	CA011613	rs_80358421	4 SubmittersRCV000112909 RCV003156733 RCV003764718
NM_000059.4(BRCA2):c.1327G>T (p.Glu443Ter)	SNV Germline	Chr13:32332805	Pathogenic	Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome	Reviewed By Expert Panel	CA011622	rs_397507579	5 SubmittersRCV000169567 RCV000238757
NM_000059.4(BRCA2):c.1342C>T (p.Arg448Cys)	SNV Germline	Chr13:32332820	Conflicting classifications of pathogenicity	Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome BRCA2-related cancer predisposition not specified	Criteria Provided Conflicting Classifications	CA011683	rs_80358422	15 SubmittersRCV000043785 RCV000077254 RCV000165318 RCV000203634 RCV005357287 RCV005890336
NM_000059.4(BRCA2):c.1343G>A (p.Arg448His)	SNV Germline	Chr13:32332821	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided not specified Hereditary breast ovarian cancer syndrome	Criteria Provided Conflicting Classifications	CA011692	rs_80358423	14 SubmittersRCV000112910 RCV000130010 RCV000587298 RCV001175372 RCV001495330
NM_000059.4(BRCA2):c.136C>T (p.Pro46Ser)	SNV Germline	Chr13:32319145	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided not specified Hereditary breast ovarian cancer syndrome	Criteria Provided Conflicting Classifications	CA011790	rs_80358425	11 SubmittersRCV000113176 RCV000164910 RCV000588395 RCV001175345 RCV001306963
NM_000059.4(BRCA2):c.1375T>G (p.Leu459Val)	SNV Germline	Chr13:32332853	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA011810	rs_80358426	3 SubmittersRCV000112915 RCV001348290 RCV003156734
NM_000059.4(BRCA2):c.1399A>T (p.Lys467Ter)	SNV Germline	Chr13:32332877	Pathogenic	Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided Breast neoplasm 8 conditions Hereditary breast ovarian cancer syndrome Gastric cancer Familial cancer of breast Familial cancer of breast Breast-ovarian cancer, familial, susceptibility to, 2	Reviewed By Expert Panel	CA011908	rs_80358427	18 SubmittersRCV000077256 RCV000131059 RCV000221316 RCV000240776 RCV000762915 RCV001385487 RCV003162365 RCV003473303 RCV005357289
NM_000059.4(BRCA2):c.1411G>T (p.Glu471Ter)	SNV Germline	Chr13:32332889	Pathogenic	Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Gastric cancer Familial cancer of breast	Reviewed By Expert Panel	CA011958	rs_80358428	13 SubmittersRCV000043801 RCV000112919 RCV000162910 RCV000195351 RCV003162366 RCV003473304
NM_000059.4(BRCA2):c.1414C>T (p.Gln472Ter)	SNV Germline	Chr13:32332892	Pathogenic	Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided Breast and/or ovarian cancer Breast carcinoma Familial cancer of breast	Reviewed By Expert Panel	CA011969	rs_80358429	13 SubmittersRCV000043802 RCV000112920 RCV000509751 RCV000657753 RCV001270984 RCV001554325 RCV002514185
NM_000059.4(BRCA2):c.1418A>T (p.His473Leu)	SNV Germline	Chr13:32332896	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome	Criteria Provided Conflicting Classifications	CA011980	rs_80358430	5 SubmittersRCV000112921 RCV000569851 RCV001338564
NM_000059.4(BRCA2):c.1423G>T (p.Glu475Ter)	SNV Germline	Chr13:32332901	Pathogenic	Familial cancer of breast Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome	Reviewed By Expert Panel	CA012001	rs_397507587	8 SubmittersRCV000577355 RCV000657629 RCV000661641 RCV001385297 RCV002390184
NM_000059.4(BRCA2):c.1447G>A (p.Ala483Thr)	SNV Germline	Chr13:32332925	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome	Criteria Provided Conflicting Classifications	CA012073	rs_80358432	5 SubmittersRCV000112922 RCV000509786 RCV001365914
NM_000059.4(BRCA2):c.1447G>C (p.Ala483Pro)	SNV Germline	Chr13:32332925	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome not specified Condition: not provided Hereditary breast ovarian cancer syndrome	Criteria Provided Conflicting Classifications	CA012085	rs_80358432	9 SubmittersRCV000112923 RCV000132314 RCV000417931 RCV001284409 RCV001316342
NM_000059.4(BRCA2):c.1456C>T (p.Gln486Ter)	SNV Germline	Chr13:32332934	Pathogenic	Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided Familial cancer of breast	Reviewed By Expert Panel	CA012111	rs_80358434	14 SubmittersRCV000112924 RCV000219957 RCV000496375 RCV000520967 RCV003473305
NM_000059.4(BRCA2):c.145G>T (p.Glu49Ter)	SNV Germline	Chr13:32319154	Pathogenic	Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Familial cancer of breast 9 conditions Malignant tumor of breast Gastric cancer	Reviewed By Expert Panel	CA012123	rs_80358435	26 SubmittersRCV000043811 RCV000077257 RCV000131868 RCV000167820 RCV000238910 RCV000515388 RCV001353561 RCV003162367
NM_000059.4(BRCA2):c.1463T>G (p.Ile488Arg)	SNV Germline	Chr13:32332941	Conflicting classifications of pathogenicity	Hereditary breast ovarian cancer syndrome Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA012142	rs_80358436	5 SubmittersRCV000043813 RCV000112925 RCV001011706
NM_000059.4(BRCA2):c.1483G>A (p.Ala495Thr)	SNV Germline	Chr13:32332961	Conflicting classifications of pathogenicity	Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Breast neoplasm Breast-ovarian cancer, familial, susceptibility to, 2 Condition: not provided BRCA2-related cancer predisposition not specified	Criteria Provided Conflicting Classifications	CA012191	rs_80358437	12 SubmittersRCV000043814 RCV000130135 RCV000414054 RCV000989001 RCV001284410 RCV004803138 RCV006268097

NM_024675.4(PALB2):c.3549C>G (p.Tyr1183Ter)

SNV
Germline

Chr16:23603471

Pathogenic/Likely pathogenic

Fanconi anemia complementation group N
Familial cancer of breast
not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
Pancreatic cancer, susceptibility to, 3
PALB2-related disorder
Breast-ovarian cancer, familial, susceptibility to, 5
Hereditary breast ovarian cancer syndrome
Inherited breast cancer and ovarian cancer
PALB2-related cancer predisposition

Criteria Provided
Multiple Submitters
No Conflicts

CA151250

rs_118203998

27 SubmittersRCV000001304 RCV000114634 RCV000121742 RCV000129158 RCV000212830 RCV001355428 RCV004528063 RCV005053883 RCV005623061 RCV005430457 RCV006554421

NM_000051.4(ATM):c.7327C>T (p.Arg2443Ter)

SNV
Germline/somatic

Chr11:108330233

Pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Breast and/or ovarian cancer
Familial cancer of breast
Carcinoma of pancreas
Tip-toe gait
See cases
Neoplasm
ATM-related cancer predisposition
Hereditary breast ovarian cancer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA325513

rs_121434220

27 SubmittersRCV000003175 RCV000220229 RCV000484232 RCV001270953 RCV001250440 RCV001391206 RCV003318492 RCV004797750 RCV005229762 RCV005357062 RCV005089149

NM_000051.4(ATM):c.496+5G>A

SNV
Germline

Chr11:108235839

Pathogenic/Likely pathogenic

Ataxia - telangiectasia variant
Condition: not provided
Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Hereditary breast ovarian cancer syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA115952

rs_796051858

13 SubmittersRCV000003188 RCV000235952 RCV000213739 RCV000558736 RCV001249854 RCV003466791

NM_032043.3(BRIP1):c.139C>G (p.Pro47Ala)

SNV
Germline

Chr17:61859862

Conflicting classifications of pathogenicity

Breast cancer, early-onset
Hereditary cancer-predisposing syndrome
not specified
Fanconi anemia complementation group J
Familial cancer of breast
Fanconi anemia complementation group J
Condition: not provided
BRIP1-related disorder
Familial cancer of breast
Malignant tumor of breast
Breast and/or ovarian cancer
Hereditary breast ovarian cancer syndrome
Ovarian cancer
Monogenic short stature

Criteria Provided
Conflicting Classifications

CA117038

rs_28903098

33 SubmittersRCV000005002 RCV000116124 RCV000200979 RCV000199377 RCV000409748 RCV000587908 RCV000778130 RCV000990044 RCV001090025 RCV003149563 RCV005089172 RCV005430106 RCV006629051

NM_007194.4(CHEK2):c.433C>T (p.Arg145Trp)

SNV
Germline

Chr22:28725254

Likely pathogenic

CHEK2-related cancer predisposition
Hereditary cancer-predisposing syndrome
not specified
Familial cancer of breast
Li-Fraumeni syndrome
Condition: not provided
Malignant tumor of breast
Breast and/or ovarian cancer
Gastric cancer
Li-Fraumeni syndrome 1
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA117632

rs_137853007

35 SubmittersRCV000005940 RCV000116016 RCV000120554 RCV000197612 RCV000587420 RCV000505730 RCV001358124 RCV003149565 RCV003162212 RCV003224854 RCV005861015 RCV005638400

NM_007194.4(CHEK2):c.539G>A (p.Arg180His)

SNV
Germline

Chr22:28725030

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
not specified
Malignant tumor of breast
Prostate cancer
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA117639

rs_137853009

20 SubmittersRCV000116025 RCV000206384 RCV000212427 RCV000780186 RCV001354132 RCV003333686 RCV004760321

NM_007194.4(CHEK2):c.541C>T (p.Arg181Cys)

SNV
Germline/somatic

Chr22:28725028

Conflicting classifications of pathogenicity

Prostate cancer, somatic
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
not specified
CHEK2-related disorder
Hereditary breast ovarian cancer syndrome
CHEK2-related cancer predisposition
Predisposition to cancer

Criteria Provided
Conflicting Classifications

CA117640

rs_137853010

27 SubmittersRCV000005945 RCV000164479 RCV000216866 RCV000196466 RCV001193084 RCV004737137 RCV005089184 RCV005357082 RCV005600614

NM_007194.4(CHEK2):c.542G>A (p.Arg181His)

SNV
Germline

Chr22:28725027

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Prostate cancer
Bone osteosarcoma
CHEK2-related cancer predisposition
Familial cancer of breast
Hereditary breast ovarian cancer syndrome
CHEK2-related cancer predisposition
Malignant tumor of breast
not specified
Breast and/or ovarian cancer
Prostate cancer
Familial prostate cancer
Bone osteosarcoma
CHEK2-related cancer predisposition
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA117641

rs_121908701

22 SubmittersRCV000129670 RCV000114761 RCV000233960 RCV000765623 RCV001030688 RCV001294022 RCV001357854 RCV001193685 RCV001797995 RCV003333687 RCV005025011 RCV005604764

NM_007194.4(CHEK2):c.1283C>T (p.Ser428Phe)

SNV
Germline

Chr22:28695219

Conflicting classifications of pathogenicity

Breast cancer, susceptibility to
Hereditary cancer-predisposing syndrome
Breast and colorectal cancer, susceptibility to
Condition: not provided
Familial cancer of breast
Breast neoplasm
Hereditary breast ovarian cancer syndrome
Prostate cancer
Bone osteosarcoma
CHEK2-related cancer predisposition
Familial cancer of breast
Malignant tumor of breast
CHEK2-related cancer risk
TUMOR PREDISPOSITION SYNDROME 4, BREAST
Breast and/or ovarian cancer
CHEK2-related disorder
Inherited breast cancer and ovarian cancer
Familial prostate cancer
Bone osteosarcoma
CHEK2-related cancer predisposition
CHEK2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA250528

rs_137853011

39 SubmittersRCV000005953 RCV000115994 RCV000210180 RCV000212459 RCV000197718 RCV000388223 RCV000586482 RCV000515286 RCV001354412 RCV001449813 RCV003333691 RCV003492287 RCV004532295 RCV004691717 RCV005025012 RCV005414444

NM_058216.3(RAD51C):c.773G>A (p.Arg258His)

SNV
Germline

Chr17:58709926

Conflicting classifications of pathogenicity

Fanconi anemia complementation group O
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 3
Fanconi anemia complementation group O
Breast-ovarian cancer, familial, susceptibility to, 3
Familial ovarian cancer
RAD51C-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA168628

rs_267606997

16 SubmittersRCV000007224 RCV000131703 RCV000506412 RCV001194260 RCV003315500 RCV005394130 RCV005600615 RCV006249550

NM_058216.3(RAD51C):c.374G>T (p.Gly125Val)

SNV
Germline

Chr17:58695159

Likely pathogenic

Breast-ovarian cancer, familial, susceptibility to, 3
Condition: not provided
Hereditary breast ovarian cancer syndrome
Fanconi anemia complementation group O

Criteria Provided
Multiple Submitters
No Conflicts

CA118526

rs_267606998

4 SubmittersRCV000007226 RCV001195016 RCV001797586 RCV003507247

NM_002485.5(NBN):c.511A>G (p.Ile171Val)

SNV
Germline

Chr8:89978293

Conflicting classifications of pathogenicity

Aplastic anemia
Leukemia, acute lymphoblastic, susceptibility to
Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency
not specified
Acute lymphoid leukemia
Condition: not provided
Hereditary breast ovarian cancer syndrome
Carcinoma of colon
Breast carcinoma
Hereditary cancer
NBN-related disorder
Diffuse midline glioma, H3 K27-altered
Pediatric high-grade glioma

Criteria Provided
Conflicting Classifications

CA160981

rs_61754966

29 SubmittersRCV000007360 RCV000007361 RCV000115797 RCV000197512 RCV000121618 RCV000490266 RCV000589577 RCV001030566 RCV001358233 RCV001262350 RCV003492288 RCV003891430 RCV004776268 RCV004776269

NM_000059.4(BRCA2):c.8165C>G (p.Thr2722Arg)

SNV
Germline

Chr13:32363367

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
BRCA2-related disorder
Condition: not provided
Hereditary breast ovarian cancer syndrome
Familial cancer of breast

Reviewed By Expert Panel

CA025480

rs_80359062

23 SubmittersRCV000031723 RCV000163026 RCV000405476 RCV000414368 RCV001193120 RCV003460448

NM_000059.4(BRCA2):c.8219T>A (p.Leu2740Ter)

SNV
Germline

Chr13:32363421

Pathogenic

Fanconi anemia complementation group D1
Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA025524

rs_80359070

5 SubmittersRCV000009934 RCV000113889 RCV000236578 RCV001380789

NM_000059.4(BRCA2):c.4648G>T (p.Glu1550Ter)

SNV
Germline

Chr13:32339003

Pathogenic

Fanconi anemia complementation group D1
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Fanconi anemia
Familial cancer of breast

Reviewed By Expert Panel

CA020587

rs_80358695

9 SubmittersRCV000009935 RCV000044460 RCV000113326 RCV000571951 RCV001530923 RCV003473074

NM_000059.4(BRCA2):c.7529T>C (p.Leu2510Pro)

SNV
Germline

Chr13:32356521

Pathogenic/Likely pathogenic

Fanconi anemia complementation group D1
Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA025134

rs_80358979

12 SubmittersRCV000009936 RCV000113772 RCV000478444 RCV000509658 RCV001290186

NM_000059.4(BRCA2):c.5645C>G (p.Ser1882Ter)

SNV
Germline

Chr13:32340000

Pathogenic

Wilms tumor 1
Glioma susceptibility 3
Medulloblastoma
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Reviewed By Expert Panel

CA022825

rs_80358785

11 SubmittersRCV000009937 RCV000009938 RCV000009939 RCV000113452 RCV000568762 RCV000496664 RCV001284577

NM_000059.4(BRCA2):c.9196C>T (p.Gln3066Ter)

SNV
Germline

Chr13:32380085

Pathogenic

Fanconi anemia complementation group D1
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Condition: not provided
Malignant tumor of breast
Familial cancer of breast
BRCA2-related cancer predisposition
Cancer or benign tumor

Reviewed By Expert Panel

CA026028

rs_80359180

26 SubmittersRCV000009941 RCV000077463 RCV000131052 RCV000210196 RCV000257912 RCV000235644 RCV001357808 RCV003460449 RCV004802932 RCV005624682

NM_000059.4(BRCA2):c.631+1G>A

SNV
Germline

Chr13:32326614

Pathogenic

Fanconi anemia complementation group D1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Multiple Submitters
No Conflicts

CA023848

rs_81002897

11 SubmittersRCV000009942 RCV000044895 RCV000131851 RCV000113913 RCV000985563 RCV001310166

NM_000059.4(BRCA2):c.631+2T>G

SNV
Germline

Chr13:32326615

Pathogenic

Fanconi anemia complementation group D1
Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast and/or ovarian cancer
Fanconi anemia
Malignant tumor of breast
Familial cancer of breast
BRCA2-related cancer predisposition

Reviewed By Expert Panel

CA023852

rs_81002899

26 SubmittersRCV000009943 RCV000031615 RCV000044897 RCV000129071 RCV000195357 RCV000769680 RCV000826135 RCV001353557 RCV003147279 RCV004802933

NM_000546.6(TP53):c.743G>A (p.Arg248Gln)

SNV
Germline/somatic

Chr17:7674220

Pathogenic

Li-Fraumeni syndrome 1
Hereditary cancer-predisposing syndrome
Sarcoma
Condition: not provided
Multiple myeloma
Li-Fraumeni syndrome
11 conditions
Lymphoma
Ovarian neoplasm
Neoplasm
Lip and oral cavity carcinoma
Rhabdomyosarcoma
Ductal carcinoma in situ
Gastric cancer
Malignant tumor of urinary bladder
Adrenocortical carcinoma, hereditary
TP53-related disorder
Hereditary breast ovarian cancer syndrome
Familial cancer of breast
Colorectal cancer
Breast carcinoma
12 conditions
Medulloblastoma WNT activated
Adenocarcinoma of the large intestine
Embryonal tumor with multilayered rosettes
Nasopharyngeal carcinoma
Anaplastic/large cell medulloblastoma
Adrenal cortex carcinoma
Embryonal rhabdomyosarcoma
Diffuse midline glioma, H3 K27M-mutant

Reviewed By Expert Panel

CA000387

rs_11540652

46 SubmittersRCV000013150 RCV000115736 RCV000148913 RCV000235221 RCV000424869 RCV000197114 RCV000763417 RCV000790860 RCV000785344 RCV000426606 RCV001255671 RCV001257519 RCV001527465 RCV003162244 RCV003332079 RCV003466852 RCV004745155 RCV004794335 RCV001270275 RCV004813032 RCV001554245 RCV005016259 RCV006253477 RCV006253478 RCV006253479 RCV006253474 RCV006454632 RCV003996090 RCV006253475 RCV006253476

NM_000546.6(TP53):c.1010G>A (p.Arg337His)

SNV
Germline/somatic

Chr17:7670699

Pathogenic/Likely pathogenic/Pathogenic, low penetrance

ADRENOCORTICAL CARCINOMA, PEDIATRIC
Li-Fraumeni syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1
Breast neoplasm
Squamous cell carcinoma of the head and neck
Adrenocortical carcinoma, hereditary
Gastric cancer
Neuroblastoma
Ovarian cancer
Hereditary breast ovarian cancer syndrome
12 conditions
TP53-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA000013

rs_121912664

28 SubmittersRCV000013178 RCV000197240 RCV000481814 RCV000128923 RCV000576817 RCV000413754 RCV000989700 RCV001375632 RCV003162248 RCV006253508 RCV006555321 RCV002307364 RCV002496338 RCV004797591

NM_000546.6(TP53):c.566C>T (p.Ala189Val)

SNV
Germline

Chr17:7674965

Conflicting classifications of pathogenicity

Familial colorectal cancer
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1
Li-Fraumeni syndrome
Hereditary breast ovarian cancer syndrome
not specified
Condition: not provided
Li-Fraumeni syndrome 1
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA000270

rs_121912665

13 SubmittersRCV000013182 RCV000132058 RCV000144671 RCV000536677 RCV001030736 RCV001192620 RCV003476892 RCV005357117

NM_000249.4(MLH1):c.2041G>A (p.Ala681Thr)

SNV
Germline

Chr3:37048955

Pathogenic

Colorectal cancer, hereditary nonpolyposis, type 2
Lynch syndrome
not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Colorectal cancer, hereditary nonpolyposis, type 2
Muir-Torré syndrome
Mismatch repair cancer syndrome 1
Hereditary nonpolyposis colon cancer
Muir-Torré syndrome
Hereditary breast ovarian cancer syndrome
Inherited MMR deficiency (Lynch syndrome)

Reviewed By Expert Panel

CA008304

rs_63750217

27 SubmittersRCV000018632 RCV000075495 RCV000202172 RCV000213700 RCV000519240 RCV000524270 RCV000763105 RCV001328323 RCV002288511 RCV005251042 RCV005865086

NM_007294.4(BRCA1):c.190T>G (p.Cys64Gly)

SNV
Germline

Chr17:43106478

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified

Criteria Provided
Multiple Submitters
No Conflicts

CA001250

rs_80357064

16 SubmittersRCV000019228 RCV000047634 RCV000129894 RCV000235121 RCV000496255

NM_007294.4(BRCA1):c.181T>G (p.Cys61Gly)

SNV
Germline/somatic

Chr17:43106487

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Breast carcinoma
Breast neoplasm
Ovarian neoplasm
Breast and/or ovarian cancer
BRCA1-related cancer predisposition
Fanconi anemia, complementation group S
Pancreatic cancer, susceptibility to, 4
Breast-ovarian cancer, familial, susceptibility to, 1
Inherited ovarian cancer (without breast cancer)

Reviewed By Expert Panel

CA001182

rs_28897672

64 SubmittersRCV000019229 RCV000047597 RCV000131902 RCV000159935 RCV000239114 RCV000415051 RCV000412714 RCV000785199 RCV001270967 RCV004802937 RCV005003390 RCV005646760

NM_007294.4(BRCA1):c.3607C>T (p.Arg1203Ter)

SNV
Germline/somatic

Chr17:43091924

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast neoplasm
Condition: not provided
Familial cancer of breast
Ovarian cancer
Ovarian neoplasm
Breast and/or ovarian cancer
Ovarian carcinoma
Malignant tumor of urinary bladder
Gastric cancer
Inherited breast cancer and ovarian cancer
BRCA1-related disorder
BRCA1-related cancer predisposition
Fanconi anemia, complementation group S
Pancreatic cancer, susceptibility to, 4
Breast-ovarian cancer, familial, susceptibility to, 1
Inherited ovarian cancer (without breast cancer)

Reviewed By Expert Panel

CA002305

rs_62625308

49 SubmittersRCV000019240 RCV000048251 RCV000131818 RCV000148389 RCV000159978 RCV000239343 RCV000677815 RCV000785373 RCV000735444 RCV001642230 RCV003332084 RCV003162256 RCV004808551 RCV004554605 RCV004802939 RCV005016279 RCV005646761

NM_007294.4(BRCA1):c.3748G>T (p.Glu1250Ter)

SNV
Germline

Chr17:43091783

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast
BRCA1-related cancer predisposition

Reviewed By Expert Panel

CA002402

rs_28897686

29 SubmittersRCV000019241 RCV000048311 RCV000074586 RCV000131811 RCV000465125 RCV004802940

NM_007294.4(BRCA1):c.4327C>T (p.Arg1443Ter)

SNV
Germline

Chr17:43082434

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast
not specified
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 1
Fanconi anemia, complementation group S
Pancreatic cancer, susceptibility to, 4
Familial cancer of breast
Breast and/or ovarian cancer
Malignant tumor of breast
BRCA1-related cancer predisposition
BRCA1-related disorder
Breast-ovarian cancer, familial, susceptibility to, 1
Fanconi anemia, complementation group S
Familial cancer of breast
Inherited breast cancer and ovarian cancer

Reviewed By Expert Panel

CA002769

rs_41293455

51 SubmittersRCV000019244 RCV000048523 RCV000131880 RCV000159989 RCV000239083 RCV000235131 RCV000763000 RCV000735445 RCV001353404 RCV004802942 RCV005249992 RCV005357149 RCV005252689

NM_007294.4(BRCA1):c.2389G>T (p.Glu797Ter)

SNV
Germline

Chr17:43093142

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Breast and/or ovarian cancer
Inherited breast cancer and ovarian cancer

Reviewed By Expert Panel

CA001588

rs_62625306

19 SubmittersRCV000019252 RCV000162856 RCV000212169 RCV000496416 RCV000769717 RCV005252690

NM_007294.4(BRCA1):c.211A>G (p.Arg71Gly)

SNV
Germline/somatic

Chr17:43106457

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Familial cancer of breast
Fanconi anemia, complementation group S
Pancreatic cancer, susceptibility to, 4
Breast-ovarian cancer, familial, susceptibility to, 1
Familial cancer of breast
BRCA1-related cancer predisposition
BRCA1-related disorder

Reviewed By Expert Panel

CA001398

rs_80357382

36 SubmittersRCV000019263 RCV000047713 RCV000131899 RCV000195359 RCV000469732 RCV000763009 RCV004802945 RCV004758595

NM_007294.4(BRCA1):c.5324T>G (p.Met1775Arg)

SNV
Germline

Chr17:43051071

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast and/or ovarian cancer
BRCA1-related disorder
BRCA1-related cancer predisposition
Inherited breast cancer and ovarian cancer

Reviewed By Expert Panel

CA003478

rs_41293463

27 SubmittersRCV000019264 RCV000048931 RCV000131375 RCV000167787 RCV001170589 RCV004554608 RCV004802946 RCV006436391

NM_007294.4(BRCA1):c.5324T>A (p.Met1775Lys)

SNV
Germline

Chr17:43051071

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA003476

rs_41293463

10 SubmittersRCV000019265 RCV000496817 RCV001526335

NM_002878.4(RAD51D):c.556C>T (p.Arg186Ter)

SNV
Germline

Chr17:35106406

Pathogenic/Likely pathogenic

Breast-ovarian cancer, familial, susceptibility to, 4
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Breast and/or ovarian cancer
Malignant tumor of breast
Ovarian neoplasm
Inherited ovarian cancer (without breast cancer)
Inherited breast cancer and ovarian cancer
Polycystic kidney disease 2

Criteria Provided
Multiple Submitters
No Conflicts

CA129082

rs_387906843

25 SubmittersRCV000023220 RCV000129358 RCV000479705 RCV000589947 RCV001271049 RCV001357904 RCV002463429 RCV005055059 RCV005252697 RCV006449356

NM_002878.4(RAD51D):c.757C>T (p.Arg253Ter)

SNV
Germline

Chr17:35101347

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 4
Hereditary cancer-predisposing syndrome
Condition: not provided
Breast carcinoma
Ovarian carcinoma
Hereditary breast ovarian cancer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA129085

rs_137886232

16 SubmittersRCV000023223 RCV000130349 RCV000235264 RCV001554259 RCV002463349 RCV005237406

NM_032043.3(BRIP1):c.1045G>C (p.Ala349Pro)

SNV
Germline

Chr17:61801348

Pathogenic/Likely pathogenic

Fanconi anemia complementation group J
not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
Fanconi anemia complementation group J
Familial cancer of breast
Diffuse intrinsic pontine glioma
Hereditary breast ovarian cancer syndrome
Familial cancer of breast
BRIP1-related disorder
Familial ovarian cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA157735

rs_149364097

16 SubmittersRCV000023492 RCV000120412 RCV000131544 RCV000216316 RCV000466014 RCV000761010 RCV002271374 RCV003335053 RCV004528133 RCV005600622

NM_058216.3(RAD51C):c.397C>T (p.Gln133Ter)

SNV
Germline

Chr17:58695182

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 3
Fanconi anemia complementation group O
Hereditary cancer-predisposing syndrome
Condition: not provided
Breast and/or ovarian cancer
RAD51C-related disorder
Hereditary breast ovarian cancer syndrome
RAD51C-related cancer predisposition
Inherited breast cancer and ovarian cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA325658

rs_387907159

15 SubmittersRCV000024264 RCV000205139 RCV000219684 RCV000483994 RCV003149575 RCV004734529 RCV004576911 RCV006249564 RCV006449944

NM_000249.4(MLH1):c.94A>G (p.Ile32Val)

SNV
Germline

Chr3:36993641

Conflicting classifications of pathogenicity

Lynch syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA013254

rs_2020872

9 SubmittersRCV000030233 RCV000217828 RCV000524324 RCV000568967 RCV001030560

NM_000251.3(MSH2):c.942+3A>T

SNV
Germline/somatic

Chr2:47414421

Pathogenic

Lynch syndrome 1
Lynch syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch-like syndrome
Carcinoma of colon
Breast carcinoma
Hereditary nonpolyposis colon cancer
Lynch syndrome 1
Muir-Torré syndrome
Mismatch repair cancer syndrome 2
MSH2-related disorder
Hereditary breast ovarian cancer syndrome
Uterine corpus endometrial carcinoma
Colon adenocarcinoma

Reviewed By Expert Panel

CA022585

rs_193922376

35 SubmittersRCV000001844 RCV000030256 RCV000115549 RCV000201997 RCV000524424 RCV001249912 RCV001353565 RCV001579303 RCV001731319 RCV005025083 RCV004734535 RCV006605197 RCV005888781 RCV005888780

NM_007294.4(BRCA1):c.1033G>T (p.Asp345Tyr)

SNV
Germline

Chr17:43094498

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA000695

rs_80356961

10 SubmittersRCV000030969 RCV000047314 RCV000236830 RCV000509756 RCV002250468

NM_007294.4(BRCA1):c.116G>A (p.Cys39Tyr)

SNV
Germline/somatic

Chr17:43115744

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Breast neoplasm
Malignant tumor of urinary bladder

Criteria Provided
Multiple Submitters
No Conflicts

CA000772

rs_80357498

20 SubmittersRCV000030973 RCV000222558 RCV000235619 RCV000496391 RCV000677804 RCV003332086

NM_007294.4(BRCA1):c.116G>T (p.Cys39Phe)

SNV
Germline

Chr17:43115744

Pathogenic/Likely pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast and/or ovarian cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA000773

rs_80357498

8 SubmittersRCV000030974 RCV000206829 RCV000509711 RCV001798024

NM_007294.4(BRCA1):c.1202G>A (p.Gly401Glu)

SNV
Germline

Chr17:43094329

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
Condition: not provided
Fanconi anemia, complementation group S
Pancreatic cancer, susceptibility to, 4
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA000791

rs_397507184

9 SubmittersRCV000030979 RCV000130767 RCV000539447 RCV001293586 RCV002472941 RCV005016302

NM_007294.4(BRCA1):c.1222A>G (p.Lys408Glu)

SNV
Germline

Chr17:43094309

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Hereditary breast ovarian cancer syndrome
Malignant tumor of breast
BRCA1-related disorder

Criteria Provided
Conflicting Classifications

CA000801

rs_80357253

12 SubmittersRCV000030980 RCV000130521 RCV000586793 RCV000426822 RCV001087889 RCV001358158 RCV004758601

NM_007294.4(BRCA1):c.134+5G>C

SNV
Germline

Chr17:43115721

Pathogenic/Likely pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA000887

rs_80358038

5 SubmittersRCV000030981 RCV002381275 RCV003493417 RCV003644866

NM_007294.4(BRCA1):c.134A>C (p.Lys45Thr)

SNV
Germline

Chr17:43115726

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA000890

rs_80356863

11 SubmittersRCV000030983 RCV000047432 RCV000166686 RCV000585902 RCV004767024

NM_007294.4(BRCA1):c.135-1G>T

SNV
Germline

Chr17:43106534

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Malignant tumor of breast
Breast-ovarian cancer, familial, susceptibility to, 1
Fanconi anemia, complementation group S
Pancreatic cancer, susceptibility to, 4
Familial cancer of breast
BRCA1-related cancer predisposition
Inherited breast cancer and ovarian cancer

Reviewed By Expert Panel

CA000895

rs_80358158

22 SubmittersRCV000030985 RCV000047435 RCV000131843 RCV000236913 RCV001358046 RCV002504838 RCV004566758 RCV006255133

NM_007294.4(BRCA1):c.1396C>T (p.Arg466Trp)

SNV
Germline

Chr17:43094135

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Hereditary breast ovarian cancer syndrome
Breast and/or ovarian cancer
BRCA1-related disorder

Criteria Provided
Conflicting Classifications

CA000939

rs_80356964

16 SubmittersRCV000030991 RCV000132353 RCV000502109 RCV001353504 RCV001485675 RCV003149590 RCV004554611

NM_007294.4(BRCA1):c.1405G>A (p.Ala469Thr)

SNV
Germline

Chr17:43094126

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast and/or ovarian cancer
Fanconi anemia, complementation group S
Pancreatic cancer, susceptibility to, 4
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA000948

rs_397507187

14 SubmittersRCV000030992 RCV000165869 RCV000236685 RCV000526449 RCV000587317 RCV003149591 RCV005016303

NM_007294.4(BRCA1):c.1459G>T (p.Val487Phe)

SNV
Germline

Chr17:43094072

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA000979

rs_369588942

12 SubmittersRCV000030995 RCV000130777 RCV000159870 RCV000459454 RCV000586346

NM_007294.4(BRCA1):c.1480C>T (p.Gln494Ter)

SNV
Germline

Chr17:43094051

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Reviewed By Expert Panel

CA000991

rs_80357010

19 SubmittersRCV000030996 RCV000047490 RCV000223308 RCV000657593

NM_007294.4(BRCA1):c.1532G>T (p.Gly511Val)

SNV
Germline

Chr17:43093999

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA001033

rs_397507188

4 SubmittersRCV000031000 RCV002399348 RCV006629065

NM_007294.4(BRCA1):c.154C>T (p.Leu52Phe)

SNV
Germline

Chr17:43106514

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Hereditary breast ovarian cancer syndrome
Breast and/or ovarian cancer
Ovarian cancer

Criteria Provided
Conflicting Classifications

CA001039

rs_80357084

21 SubmittersRCV000031002 RCV000164750 RCV000236664 RCV000588129 RCV001085660 RCV001798025 RCV003153309

NM_007294.4(BRCA1):c.161A>G (p.Gln54Arg)

SNV
Germline

Chr17:43106507

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA001078

rs_397507189

6 SubmittersRCV000031003 RCV001254342 RCV004948137

NM_007294.4(BRCA1):c.1687C>T (p.Gln563Ter)

SNV
Germline

Chr17:43093844

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Ovarian cancer
Ovarian neoplasm
Breast carcinoma
Familial cancer of breast
Fanconi anemia, complementation group S
Breast-ovarian cancer, familial, susceptibility to, 1
Pancreatic cancer, susceptibility to, 4
Breast and/or ovarian cancer
Ovarian neoplasm
Familial cancer of breast
Endometrial carcinoma
BRCA1-related disorder
BRCA1-related cancer predisposition

Reviewed By Expert Panel

CA001106

rs_80356898

52 SubmittersRCV000031007 RCV000047559 RCV000131897 RCV000159956 RCV000238721 RCV000415155 RCV000763006 RCV000770747 RCV000785207 RCV000786987 RCV003128130 RCV004554614 RCV004802954

NM_007294.4(BRCA1):c.1690A>T (p.Asn564Tyr)

SNV
Germline

Chr17:43093841

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA001110

rs_397507191

3 SubmittersRCV000031008 RCV000536478 RCV003156722

NM_007294.4(BRCA1):c.1826A>G (p.Asn609Ser)

SNV
Germline

Chr17:43093705

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary breast ovarian cancer syndrome
not specified
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA001189

rs_80357236

7 SubmittersRCV000031010 RCV001588833 RCV001317096 RCV003323366 RCV003156723

NM_007294.4(BRCA1):c.1912G>A (p.Glu638Lys)

SNV
Germline

Chr17:43093619

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA001255

rs_80357005

10 SubmittersRCV000031014 RCV000776222 RCV001307829 RCV002247401 RCV005641499

NM_007294.4(BRCA1):c.1960A>T (p.Lys654Ter)

SNV
Germline

Chr17:43093571

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA001303

rs_80357355

13 SubmittersRCV000031017 RCV000047658 RCV000131895 RCV000203662

NM_007294.4(BRCA1):c.19C>T (p.Arg7Cys)

SNV
Germline

Chr17:43124078

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Hereditary breast ovarian cancer syndrome
Malignant tumor of breast
Breast and/or ovarian cancer
BRCA1-related cancer predisposition
BRCA1-related disorder

Criteria Provided
Conflicting Classifications

CA001330

rs_80356994

16 SubmittersRCV000031021 RCV000130702 RCV000428757 RCV000758790 RCV001085456 RCV001354707 RCV003492308 RCV004802957 RCV004554616

NM_007294.4(BRCA1):c.2006T>C (p.Met669Thr)

SNV
Germline

Chr17:43093525

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome
Condition: not provided
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA001337

rs_80356895

14 SubmittersRCV000031023 RCV000130064 RCV000420884 RCV001472789 RCV001800318 RCV002250471

NM_007294.4(BRCA1):c.2060A>C (p.Gln687Pro)

SNV
Germline

Chr17:43093471

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Fanconi anemia, complementation group S
Pancreatic cancer, susceptibility to, 4
Breast-ovarian cancer, familial, susceptibility to, 1
BRCA1-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA001364

rs_28897680

13 SubmittersRCV000031024 RCV000047696 RCV000129968 RCV000587889 RCV002281723 RCV005016304 RCV004802958

NM_007294.4(BRCA1):c.212+1G>A

SNV
Germline

Chr17:43106455

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast and/or ovarian cancer
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Familial cancer of breast
Fanconi anemia, complementation group S
Breast-ovarian cancer, familial, susceptibility to, 1

Reviewed By Expert Panel

CA001405

rs_80358042

18 SubmittersRCV000031027 RCV000505828 RCV000509688 RCV000496861 RCV000735528 RCV001171413 RCV005357166

NM_007294.4(BRCA1):c.2123C>A (p.Ser708Tyr)

SNV
Germline

Chr17:43093408

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
not specified
BRCA1-related disorder
Fanconi anemia, complementation group S

Criteria Provided
Conflicting Classifications

CA001413

rs_80357182

17 SubmittersRCV000031028 RCV000129531 RCV000314335 RCV000709482 RCV001193139 RCV004758602 RCV005357167

NM_007294.4(BRCA1):c.213-11T>G

SNV
Germline

Chr17:43104967

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Breast and/or ovarian cancer
Fanconi anemia, complementation group S
Breast-ovarian cancer, familial, susceptibility to, 1
Familial cancer of breast
BRCA1-related cancer predisposition
BRCA1-related disorder
Inherited breast cancer and ovarian cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA001424

rs_80358061

24 SubmittersRCV000031030 RCV000047725 RCV000074570 RCV000131898 RCV000469831 RCV000735531 RCV005394181 RCV004802959 RCV004758603 RCV005416026

NM_007294.4(BRCA1):c.213-12A>G

SNV
Germline

Chr17:43104968

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
Ovarian neoplasm
Breast and/or ovarian cancer
Familial cancer of breast
Fanconi anemia, complementation group S
Breast-ovarian cancer, familial, susceptibility to, 1
Pancreatic cancer, susceptibility to, 4
Familial cancer of breast
BRCA1-related disorder

Reviewed By Expert Panel

CA001426

rs_80358163

33 SubmittersRCV000031031 RCV000047726 RCV000131900 RCV000167772 RCV000505888 RCV000785201 RCV001270969 RCV002504839 RCV005246595 RCV004758604

NM_007294.4(BRCA1):c.2138C>G (p.Ser713Ter)

SNV
Germline

Chr17:43093393

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia, complementation group S
Breast-ovarian cancer, familial, susceptibility to, 1
Pancreatic cancer, susceptibility to, 4
BRCA1-related cancer predisposition

Reviewed By Expert Panel

CA001436

rs_80357233

18 SubmittersRCV000031032 RCV000047730 RCV000074571 RCV000162851 RCV002477031 RCV004802960

NM_007294.4(BRCA1):c.2158G>T (p.Glu720Ter)

SNV
Germline

Chr17:43093373

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA001445

rs_80356875

10 SubmittersRCV000031034 RCV000162852 RCV000585721 RCV001386504

NM_007294.4(BRCA1):c.2299A>G (p.Ser767Gly)

SNV
Germline

Chr17:43093232

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA001531

rs_80357194

12 SubmittersRCV000031042 RCV000047788 RCV000130067 RCV000485116 RCV003155044

NM_007294.4(BRCA1):c.2329T>G (p.Tyr777Asp)

SNV
Germline

Chr17:43093202

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
Condition: not provided
BRCA1-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA001554

rs_397507199

11 SubmittersRCV000031044 RCV000213379 RCV000476108 RCV000418137 RCV001284388 RCV004802962

NM_007294.4(BRCA1):c.2368A>G (p.Thr790Ala)

SNV
Germline

Chr17:43093163

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified
Breast and/or ovarian cancer
Condition: not provided
Malignant tumor of breast
BRCA1-related disorder

Criteria Provided
Conflicting Classifications

CA001580

rs_41286298

17 SubmittersRCV000031046 RCV000167808 RCV000131470 RCV000173843 RCV000735515 RCV000724699 RCV001353498 RCV004554619

NM_007294.4(BRCA1):c.2426A>G (p.Glu809Gly)

SNV
Germline

Chr17:43093105

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Malignant tumor of breast
Condition: not provided
Hereditary breast ovarian cancer syndrome
not specified

Criteria Provided
Conflicting Classifications

CA001620

rs_397507201

13 SubmittersRCV000031049 RCV000164846 RCV000504369 RCV000589185 RCV001086610 RCV004700289

NM_007294.4(BRCA1):c.2447A>G (p.His816Arg)

SNV
Germline

Chr17:43093084

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast and/or ovarian cancer
BRCA1-related disorder

Criteria Provided
Conflicting Classifications

CA001634

rs_80357108

17 SubmittersRCV000031051 RCV000131563 RCV000437338 RCV001086517 RCV001356358 RCV001798027 RCV004554620

NM_007294.4(BRCA1):c.2563C>T (p.Gln855Ter)

SNV
Germline

Chr17:43092968

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Pancreatic cancer, susceptibility to, 4
Fanconi anemia, complementation group S
Breast-ovarian cancer, familial, susceptibility to, 1

Reviewed By Expert Panel

CA001689

rs_80357131

13 SubmittersRCV000031056 RCV000047880 RCV000223464 RCV000657621 RCV002496473

NM_007294.4(BRCA1):c.2603C>G (p.Ser868Ter)

SNV
Germline

Chr17:43092928

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
BRCA1-related disorder

Reviewed By Expert Panel

CA001714

rs_80356925

16 SubmittersRCV000031058 RCV000162858 RCV000235126 RCV000496687 RCV004758607

NM_007294.4(BRCA1):c.2635G>T (p.Glu879Ter)

SNV
Germline/somatic

Chr17:43092896

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Breast and/or ovarian cancer
Familial cancer of breast

Reviewed By Expert Panel

CA001729

rs_80357251

11 SubmittersRCV000031059 RCV000047906 RCV000235968 RCV000509886 RCV000769714 RCV002250472

NM_007294.4(BRCA1):c.2677A>T (p.Lys893Ter)

SNV
Germline

Chr17:43092854

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA001754

rs_80357170

3 SubmittersRCV000031061 RCV000702700

NM_007294.4(BRCA1):c.2702T>C (p.Phe901Ser)

SNV
Germline

Chr17:43092829

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA001780

rs_397507202

9 SubmittersRCV000031063 RCV000221978 RCV001689580 RCV002513280

NM_007294.4(BRCA1):c.2710G>T (p.Glu904Ter)

SNV
Germline

Chr17:43092821

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA001786

rs_80357035

6 SubmittersRCV000031065 RCV001354425 RCV001387940

NM_007294.4(BRCA1):c.2714A>G (p.Gln905Arg)

SNV
Germline

Chr17:43092817

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA001788

rs_397507203

6 SubmittersRCV000031066 RCV000637760 RCV001016383 RCV003736545

NM_007294.4(BRCA1):c.2726A>T (p.Asn909Ile)

SNV
Germline

Chr17:43092805

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
not specified
Breast neoplasm
Condition: not provided
Hereditary breast ovarian cancer syndrome
Malignant tumor of breast
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA001795

rs_80357127

19 SubmittersRCV000031067 RCV000132325 RCV000235335 RCV000240745 RCV000657080 RCV001083429 RCV001355281 RCV002250473

NM_007294.4(BRCA1):c.2798G>A (p.Gly933Asp)

SNV
Germline

Chr17:43092733

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
not specified

Criteria Provided
Conflicting Classifications

CA001834

rs_80356941

10 SubmittersRCV000031071 RCV000047971 RCV000256124 RCV000561212 RCV005417440

NM_007294.4(BRCA1):c.2934T>G (p.Tyr978Ter)

SNV
Germline

Chr17:43092597

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Malignant tumor of breast

Reviewed By Expert Panel

CA001915

rs_80357115

15 SubmittersRCV000031074 RCV000048017 RCV000162860 RCV000195361 RCV001353980

NM_007294.4(BRCA1):c.2963C>T (p.Ser988Leu)

SNV
Germline

Chr17:43092568

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
BRCA1-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA001928

rs_397507206

10 SubmittersRCV000031075 RCV000656788 RCV000776172 RCV001079126 RCV004802969

NM_007294.4(BRCA1):c.302-2A>C

SNV
Germline

Chr17:43104263

Pathogenic/Likely pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Gastric cancer
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA001979

rs_80358011

9 SubmittersRCV000031081 RCV001186081 RCV001377524 RCV003162263 RCV003476906

NM_007294.4(BRCA1):c.302-3C>G

SNV
Germline

Chr17:43104264

Pathogenic/Likely pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA001987

rs_80358051

8 SubmittersRCV000031082 RCV000219090 RCV001377525 RCV001723593

NM_007294.4(BRCA1):c.3055A>G (p.Ile1019Val)

SNV
Germline

Chr17:43092476

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA002008

rs_80357311

15 SubmittersRCV000031085 RCV000048061 RCV000132486 RCV000589797 RCV005237436

NM_007294.4(BRCA1):c.3112G>T (p.Glu1038Ter)

SNV
Germline

Chr17:43092419

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA002035

rs_80357161

7 SubmittersRCV000031090 RCV000131907 RCV000496578

NM_007294.4(BRCA1):c.3185G>T (p.Gly1062Val)

SNV
Germline

Chr17:43092346

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Malignant tumor of breast

Criteria Provided
Conflicting Classifications

CA002075

rs_397507211

7 SubmittersRCV000031094 RCV000130834 RCV000485820 RCV001042144 RCV001354784

NM_007294.4(BRCA1):c.3247A>C (p.Met1083Leu)

SNV
Germline

Chr17:43092284

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Fanconi anemia, complementation group S
Breast-ovarian cancer, familial, susceptibility to, 1
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA002098

rs_397507213

11 SubmittersRCV000031098 RCV000164913 RCV000559848 RCV000590619 RCV005357171

NM_007294.4(BRCA1):c.3352C>T (p.Gln1118Ter)

SNV
Germline/somatic

Chr17:43092179

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Ovarian neoplasm
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA002172

rs_397507215

9 SubmittersRCV000031105 RCV000167367 RCV000578536 RCV000785370 RCV001290608

NM_007294.4(BRCA1):c.3354G>T (p.Gln1118His)

SNV
Germline

Chr17:43092177

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA002175

rs_80357334

7 SubmittersRCV000031106 RCV000048160 RCV000164761 RCV000586936

NM_007294.4(BRCA1):c.3362A>G (p.Asn1121Ser)

SNV
Germline

Chr17:43092169

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
not specified
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA002182

rs_80356919

14 SubmittersRCV000031108 RCV000048166 RCV000425661 RCV000569556 RCV001697097

NM_007294.4(BRCA1):c.3389C>G (p.Ser1130Ter)

SNV
Germline

Chr17:43092142

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA002190

rs_80357405

11 SubmittersRCV000031109 RCV000236909 RCV000496618 RCV001180645

NM_007294.4(BRCA1):c.3400G>T (p.Glu1134Ter)

SNV
Germline

Chr17:43092131

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Inherited breast cancer and ovarian cancer

Reviewed By Expert Panel

CA002199

rs_80357018

20 SubmittersRCV000031110 RCV000048178 RCV000203638 RCV000509963 RCV005252700

NM_007294.4(BRCA1):c.3652A>G (p.Ser1218Gly)

SNV
Germline

Chr17:43091879

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome
Condition: not provided
BRCA1-related disorder

Criteria Provided
Conflicting Classifications

CA002339

rs_80356894

8 SubmittersRCV000031117 RCV000166540 RCV000587400 RCV000686085 RCV002477032 RCV004554625

NM_007294.4(BRCA1):c.3689T>G (p.Leu1230Ter)

SNV
Germline

Chr17:43091842

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA002359

rs_80357162

8 SubmittersRCV000112154 RCV000580523 RCV000985406 RCV001384592

NM_007294.4(BRCA1):c.3691T>C (p.Phe1231Leu)

SNV
Germline

Chr17:43091840

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
not specified
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Fanconi anemia, complementation group S
BRCA1-related disorder

Criteria Provided
Conflicting Classifications

CA002361

rs_41293451

13 SubmittersRCV000031122 RCV000048282 RCV000131521 RCV000195391 RCV001281713 RCV005357172 RCV004554626

NM_007294.4(BRCA1):c.3782T>C (p.Leu1261Ser)

SNV
Germline

Chr17:43091749

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
BRCA1-related cancer predisposition
Condition: not provided

Criteria Provided
Conflicting Classifications

CA002436

rs_397507219

9 SubmittersRCV000031129 RCV000129886 RCV000709473 RCV004802975 RCV004998116

NM_007294.4(BRCA1):c.3868A>T (p.Lys1290Ter)

SNV
Germline

Chr17:43091663

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Breast and/or ovarian cancer
Hereditary cancer-predisposing syndrome
Condition: not provided

Reviewed By Expert Panel

CA002492

rs_80357254

11 SubmittersRCV000031135 RCV000048361 RCV001271016 RCV002354175 RCV004700290

NM_007294.4(BRCA1):c.3877G>C (p.Ala1293Pro)

SNV
Germline

Chr17:43091654

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Pancreatic cancer, susceptibility to, 4
Fanconi anemia, complementation group S
Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
BRCA1-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA002499

rs_397507223

9 SubmittersRCV000031136 RCV000222822 RCV000688186 RCV005016308 RCV006258934 RCV004802976

NM_007294.4(BRCA1):c.3937C>T (p.Gln1313Ter)

SNV
Germline

Chr17:43091594

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified

Reviewed By Expert Panel

CA002527

rs_80357318

17 SubmittersRCV000031137 RCV000048386 RCV000131882 RCV000482757 RCV001002640

NM_007294.4(BRCA1):c.398G>A (p.Arg133His)

SNV
Germline

Chr17:43104165

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
not specified
Malignant tumor of breast
Condition: not provided
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA002555

rs_80357357

11 SubmittersRCV000031138 RCV000128888 RCV000443460 RCV001353645 RCV001719703 RCV001479032

NM_007294.4(BRCA1):c.3991C>T (p.Gln1331Ter)

SNV
Germline

Chr17:43091540

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA002556

rs_397507224

5 SubmittersRCV000031139 RCV001852618 RCV002354176

NM_007294.4(BRCA1):c.4015G>T (p.Glu1339Ter)

SNV
Germline

Chr17:43091516

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Reviewed By Expert Panel

CA002568

rs_80357021

10 SubmittersRCV000031140 RCV000162870 RCV000587615 RCV001555283

NM_007294.4(BRCA1):c.4073A>G (p.Glu1358Gly)

SNV
Germline

Chr17:43091458

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA002603

rs_397507225

13 SubmittersRCV000031143 RCV000481308 RCV000584349 RCV000766672 RCV000637566

NM_007294.4(BRCA1):c.4075C>G (p.Gln1359Glu)

SNV
Germline

Chr17:43091456

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA002605

rs_80357456

4 SubmittersRCV000031144 RCV000565627 RCV000637817

NM_007294.4(BRCA1):c.4083G>A (p.Met1361Ile)

SNV
Germline

Chr17:43091448

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Malignant tumor of breast
Hereditary breast ovarian cancer syndrome
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA002610

rs_374192364

8 SubmittersRCV000031145 RCV000129891 RCV000478992 RCV000637459 RCV000766669 RCV001818194

NM_007294.4(BRCA1):c.4097-1G>A

SNV
Germline

Chr17:43091033

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA002624

rs_80358070

7 SubmittersRCV000031148 RCV001381004 RCV002321493

NM_007294.4(BRCA1):c.4117G>T (p.Glu1373Ter)

SNV
Germline

Chr17:43091012

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast and/or ovarian cancer
Malignant tumor of breast
BRCA1-related disorder

Reviewed By Expert Panel

CA002641

rs_80357259

18 SubmittersRCV000031150 RCV000074589 RCV000048449 RCV000162872 RCV000735478 RCV001353510 RCV004730860

NM_007294.4(BRCA1):c.4127C>G (p.Thr1376Arg)

SNV
Germline

Chr17:43091002

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Malignant tumor of breast
BRCA1-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA002646

rs_80356986

12 SubmittersRCV000031152 RCV000048453 RCV000132420 RCV000586810 RCV000484416 RCV001353468 RCV004802980

NM_007294.4(BRCA1):c.4148C>G (p.Ser1383Ter)

SNV
Germline

Chr17:43090981

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA002657

rs_80357071

7 SubmittersRCV000112270 RCV000213696 RCV001383858

NM_007294.4(BRCA1):c.4181C>T (p.Thr1394Ile)

SNV
Germline

Chr17:43090948

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
not specified
BRCA1-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA002673

rs_397507226

8 SubmittersRCV000031154 RCV000164912 RCV000236566 RCV000530171 RCV003226170 RCV004802981

NM_007294.4(BRCA1):c.427G>T (p.Glu143Ter)

SNV
Germline

Chr17:43104136

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast
BRCA1-related cancer predisposition

Reviewed By Expert Panel

CA002746

rs_80356991

28 SubmittersRCV000031162 RCV000048511 RCV000074592 RCV000162876 RCV000465234 RCV004802983

NM_007294.4(BRCA1):c.429A>C (p.Glu143Asp)

SNV
Germline

Chr17:43104134

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
not specified

Criteria Provided
Conflicting Classifications

CA002755

rs_397507228

8 SubmittersRCV000031163 RCV000229242 RCV000481623 RCV000571835 RCV005237437

NM_007294.4(BRCA1):c.4357+1G>A

SNV
Germline

Chr17:43082403

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
BRCA1-related cancer predisposition

Reviewed By Expert Panel

CA002787

rs_80358027

24 SubmittersRCV000031165 RCV000048532 RCV000131879 RCV000167804 RCV004802984

NM_007294.4(BRCA1):c.4357+6T>C

SNV
Germline

Chr17:43082398

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA002793

rs_80358143

11 SubmittersRCV000031166 RCV000767300 RCV000775143 RCV004696642

NM_007294.4(BRCA1):c.446A>C (p.Glu149Ala)

SNV
Germline

Chr17:43099876

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Breast neoplasm
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 1
Fanconi anemia, complementation group S
Pancreatic cancer, susceptibility to, 4
Familial cancer of breast
Malignant tumor of breast
not specified
BRCA1-related disorder

Criteria Provided
Conflicting Classifications

CA002865

rs_397507233

15 SubmittersRCV000031175 RCV000240737 RCV000219296 RCV000458634 RCV000479398 RCV000764128 RCV001357250 RCV002267803 RCV004758612

NM_007294.4(BRCA1):c.4484+1G>A

SNV
Germline

Chr17:43076487

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Familial cancer of breast
Condition: not provided
Hereditary cancer-predisposing syndrome
Malignant tumor of breast
BRCA1-related cancer predisposition

Criteria Provided
Multiple Submitters
No Conflicts

CA002873

rs_80358063

17 SubmittersRCV000031177 RCV000048572 RCV000585660 RCV000521426 RCV000573576 RCV001354007 RCV004802985

NM_007294.4(BRCA1):c.4484G>A (p.Arg1495Lys)

SNV
Germline

Chr17:43076488

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Malignant tumor of breast
Hereditary breast ovarian cancer syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA002875

rs_80357389

17 SubmittersRCV000031178 RCV000162878 RCV000479568 RCV001357179 RCV001389264 RCV002250476

NM_007294.4(BRCA1):c.4484G>T (p.Arg1495Met)

SNV
Germline

Chr17:43076488

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Familial cancer of breast
Breast and/or ovarian cancer
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Fanconi anemia, complementation group S
Pancreatic cancer, susceptibility to, 4
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Multiple Submitters
No Conflicts

CA002876

rs_80357389

29 SubmittersRCV000031179 RCV000048576 RCV000131886 RCV000159992 RCV000238601 RCV000462940 RCV000770739 RCV001171414 RCV005016310

NM_007294.4(BRCA1):c.4485-8C>T

SNV
Germline

Chr17:43074529

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
BRCA1-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA002880

rs_397507234

11 SubmittersRCV000031180 RCV000229987 RCV000508687 RCV000584536 RCV001358004 RCV004802986

NM_007294.4(BRCA1):c.4638T>G (p.Asp1546Glu)

SNV
Germline

Chr17:43074368

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA002938

rs_397507235

5 SubmittersRCV000031182 RCV000774940 RCV000941372 RCV001719705

NM_007294.4(BRCA1):c.4675G>A (p.Glu1559Lys)

SNV
Germline

Chr17:43074331

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Reviewed By Expert Panel

CA002963

rs_80356988

17 SubmittersRCV000031185 RCV000131823 RCV000496604 RCV000482921

NM_007294.4(BRCA1):c.4675G>C (p.Glu1559Gln)

SNV
Germline

Chr17:43074331

Pathogenic/Likely pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Inherited breast cancer and ovarian cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA002964

rs_80356988

14 SubmittersRCV000031186 RCV000131825 RCV001379224 RCV001811228 RCV006277664

NM_007294.4(BRCA1):c.4689C>G (p.Tyr1563Ter)

SNV
Germline

Chr17:43071225

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Familial cancer of breast
Ovarian neoplasm
BRCA1-related cancer predisposition
BRCA1-related disorder

Reviewed By Expert Panel

CA002979

rs_80357433

43 SubmittersRCV000031188 RCV000131835 RCV000048631 RCV000159994 RCV000464295 RCV000785416 RCV004802987 RCV004554629

NM_007294.4(BRCA1):c.4868C>G (p.Ala1623Gly)

SNV
Germline

Chr17:43071046

Pathogenic/Likely pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified
Malignant tumor of breast
Inherited ovarian cancer (without breast cancer)

Criteria Provided
Multiple Submitters
No Conflicts

CA003058

rs_80356862

19 SubmittersRCV000031195 RCV000074598 RCV000048680 RCV000131686 RCV000496627 RCV001353579 RCV006277665

NM_007294.4(BRCA1):c.4986+1G>T

SNV
Germline

Chr17:43070927

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA003119

rs_80358162

6 SubmittersRCV000031199 RCV001380795 RCV003476909

NM_007294.4(BRCA1):c.4986+4A>C

SNV
Germline

Chr17:43070924

Pathogenic/Likely pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA003122

rs_80358087

11 SubmittersRCV000031200 RCV000480773 RCV000570191 RCV000496440

NM_007294.4(BRCA1):c.4986+6T>C

SNV
Germline

Chr17:43070922

Pathogenic/Likely pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Breast and/or ovarian cancer
Familial cancer of breast
Fanconi anemia, complementation group S
Breast-ovarian cancer, familial, susceptibility to, 1
Fanconi anemia, complementation group S
Breast-ovarian cancer, familial, susceptibility to, 1
Pancreatic cancer, susceptibility to, 4

Criteria Provided
Multiple Submitters
No Conflicts

CA003127

rs_80358086

26 SubmittersRCV000031201 RCV000048724 RCV000131837 RCV000159997 RCV000735559 RCV005394183 RCV005016311

NM_007294.4(BRCA1):c.5066T>G (p.Met1689Arg)

SNV
Germline

Chr17:43067616

Pathogenic/Likely pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
BRCA1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA003182

rs_80357061

13 SubmittersRCV000031206 RCV000048755 RCV000163023 RCV001588834 RCV004554632

NM_007294.4(BRCA1):c.5068A>T (p.Lys1690Ter)

SNV
Germline

Chr17:43067614

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA003184

rs_397507239

14 SubmittersRCV000031207 RCV001384446 RCV001529865 RCV002257366

NM_007294.4(BRCA1):c.5072C>A (p.Thr1691Lys)

SNV
Germline

Chr17:43067610

Pathogenic/Likely pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA003188

rs_80357034

9 SubmittersRCV000031208 RCV000048760 RCV000485950 RCV000574915 RCV002250478

NM_007294.4(BRCA1):c.5072C>T (p.Thr1691Ile)

SNV
Germline

Chr17:43067610

Pathogenic/Likely pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
BRCA1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA003190

rs_80357034

13 SubmittersRCV000031209 RCV000048762 RCV000509720 RCV000508659 RCV002247402 RCV001171419 RCV004554633

NM_007294.4(BRCA1):c.5074+1G>A

SNV
Germline

Chr17:43067607

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Malignant tumor of breast
Breast-ovarian cancer, familial, susceptibility to, 1
Fanconi anemia, complementation group S
Pancreatic cancer, susceptibility to, 4
Inherited breast cancer and ovarian cancer

Reviewed By Expert Panel

CA003193

rs_80358053

19 SubmittersRCV000031210 RCV000048764 RCV000131833 RCV000481404 RCV001353952 RCV004795939 RCV006547506

NM_007294.4(BRCA1):c.5074+1G>T

SNV
Germline

Chr17:43067607

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA003194

rs_80358053

12 SubmittersRCV000031211 RCV000482341 RCV000496776 RCV000772123

NM_007294.4(BRCA1):c.5074+2T>C

SNV
Germline

Chr17:43067606

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Malignant tumor of breast

Reviewed By Expert Panel

CA003196

rs_80358089

14 SubmittersRCV000031212 RCV000465250 RCV000563483 RCV001353976

NM_007294.4(BRCA1):c.5074G>A (p.Asp1692Asn)

SNV
Germline/somatic

Chr17:43067608

Pathogenic/Likely pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Malignant tumor of urinary bladder

Criteria Provided
Multiple Submitters
No Conflicts

CA003201

rs_80187739

16 SubmittersRCV000031213 RCV000217586 RCV000255870 RCV000496924 RCV003332088

NM_007294.4(BRCA1):c.5074G>C (p.Asp1692His)

SNV
Germline

Chr17:43067608

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Ovarian neoplasm
Malignant tumor of breast

Reviewed By Expert Panel

CA003202

rs_80187739

19 SubmittersRCV000031214 RCV000048768 RCV000220578 RCV000256114 RCV000785420 RCV001353883

NM_007294.4(BRCA1):c.5075-6C>A

SNV
Germline

Chr17:43063957

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified

Criteria Provided
Conflicting Classifications

CA003213

rs_397507240

9 SubmittersRCV000031215 RCV000254981 RCV000416553 RCV000774932 RCV003987335

NM_007294.4(BRCA1):c.5090G>A (p.Cys1697Tyr)

SNV
Germline

Chr17:43063936

Likely pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast and/or ovarian cancer
Malignant tumor of breast
Condition: not provided
BRCA1-related cancer predisposition
Breast-ovarian cancer, familial, susceptibility to, 1
Fanconi anemia, complementation group S
Pancreatic cancer, susceptibility to, 4

Reviewed By Expert Panel

CA003230

rs_397507241

11 SubmittersRCV000031216 RCV000129997 RCV000464859 RCV000735461 RCV001353519 RCV003318545 RCV004566763 RCV005016312

NM_007294.4(BRCA1):c.5096G>A (p.Arg1699Gln)

SNV
Germline

Chr17:43063930

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Ovarian neoplasm
Breast and/or ovarian cancer
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 1
Fanconi anemia, complementation group S
Pancreatic cancer, susceptibility to, 4
Familial cancer of breast
Gastric cancer
BRCA1-related cancer predisposition
Breast-ovarian cancer, familial, susceptibility to, 1
Lynch syndrome 1
BRCA1-related disorder
Fanconi anemia, complementation group S

Reviewed By Expert Panel

CA003235

rs_41293459

53 SubmittersRCV000031217 RCV000048790 RCV000131564 RCV000195350 RCV000785422 RCV000735446 RCV002250479 RCV002496477 RCV003162265 RCV004802991 RCV005861026 RCV004554634 RCV005357178

NM_007294.4(BRCA1):c.5114T>C (p.Leu1705Pro)

SNV
Germline

Chr17:43063912

Pathogenic/Likely pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA003248

rs_397507242

4 SubmittersRCV000031218 RCV001058708 RCV001023567

NM_007294.4(BRCA1):c.5117G>A (p.Gly1706Glu)

SNV
Germline

Chr17:43063909

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Breast and/or ovarian cancer

Reviewed By Expert Panel

CA003249

rs_80356860

18 SubmittersRCV000031219 RCV000219187 RCV000221607 RCV000256122 RCV001170590

NM_007294.4(BRCA1):c.5122G>A (p.Ala1708Thr)

SNV
Germline

Chr17:43063904

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Fanconi anemia, complementation group S
Condition: not provided

Criteria Provided
Conflicting Classifications

CA003251

rs_397507243

6 SubmittersRCV000031220 RCV000198404 RCV000223569 RCV005357179 RCV006258935

NM_007294.4(BRCA1):c.5123C>T (p.Ala1708Val)

SNV
Germline

Chr17:43063903

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Breast and/or ovarian cancer
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Malignant tumor of breast
Familial cancer of breast
BRCA1-related cancer predisposition
BRCA1-related disorder
Breast-ovarian cancer, familial, susceptibility to, 1
Fanconi anemia, complementation group S
Pancreatic cancer, susceptibility to, 4

Criteria Provided
Conflicting Classifications

CA003253

rs_28897696

24 SubmittersRCV000031221 RCV000048803 RCV000148393 RCV000131166 RCV000212194 RCV000589633 RCV001353479 RCV002250480 RCV004802992 RCV004758614 RCV005016313

NM_007294.4(BRCA1):c.5152+1G>C

SNV
Germline

Chr17:43063873

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
BRCA1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA003280

rs_80358094

14 SubmittersRCV000031223 RCV000225766 RCV000759552 RCV001023623 RCV004554635

NM_007294.4(BRCA1):c.5153-1G>C

SNV
Germline

Chr17:43063374

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Reviewed By Expert Panel

CA003297

rs_80358137

15 SubmittersRCV000031224 RCV000048827 RCV002336099 RCV002267804

NM_007294.4(BRCA1):c.5179A>T (p.Lys1727Ter)

SNV
Germline

Chr17:43063347

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Reviewed By Expert Panel

CA003327

rs_80357347

17 SubmittersRCV000031226 RCV000048844 RCV000131827 RCV000237069

NM_007294.4(BRCA1):c.5191G>T (p.Glu1731Ter)

SNV
Germline

Chr17:43063335

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Multiple Submitters
No Conflicts

CA10591159

rs_397507244

6 SubmittersRCV000571448 RCV000698353 RCV001076151

NM_007294.4(BRCA1):c.5194-2A>G

SNV
Germline

Chr17:43057137

Pathogenic/Likely pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Malignant tumor of breast
Breast and/or ovarian cancer
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA003347

rs_80358069

17 SubmittersRCV000031228 RCV000131860 RCV000256055 RCV000496913 RCV001353945 RCV001798033 RCV002250481

NM_007294.4(BRCA1):c.5207T>C (p.Val1736Ala)

SNV
Germline

Chr17:43057122

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Fanconi anemia, complementation group S
Fanconi anemia, complementation group S
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 1

Reviewed By Expert Panel

CA003357

rs_45553935

24 SubmittersRCV000031229 RCV000048857 RCV000131291 RCV000195366 RCV000585878 RCV005357181

NM_007294.4(BRCA1):c.5242G>T (p.Gly1748Cys)

SNV
Germline

Chr17:43057087

Likely pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
BRCA1-related cancer predisposition

Reviewed By Expert Panel

CA003383

rs_397507245

6 SubmittersRCV000031231 RCV000509724 RCV000473758 RCV000487391 RCV005628785

NM_007294.4(BRCA1):c.5277+1G>A

SNV
Germline

Chr17:43057051

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Breast and/or ovarian cancer
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Malignant tumor of breast
Breast-ovarian cancer, familial, susceptibility to, 1
Fanconi anemia, complementation group S
Pancreatic cancer, susceptibility to, 4
Breast-ovarian cancer, familial, susceptibility to, 1
Fanconi anemia, complementation group S
Familial cancer of breast

Reviewed By Expert Panel

CA003419

rs_80358150

32 SubmittersRCV000031235 RCV000074601 RCV000131865 RCV000235135 RCV000507129 RCV000735562 RCV001171438 RCV001353526 RCV005016314 RCV005357182

NM_007294.4(BRCA1):c.5297T>G (p.Ile1766Ser)

SNV
Germline

Chr17:43051098

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Reviewed By Expert Panel

CA003452

rs_80357463

13 SubmittersRCV000031237 RCV000048915 RCV000218342 RCV001284552

NM_007294.4(BRCA1):c.5346G>A (p.Trp1782Ter)

SNV
Germline

Chr17:43049181

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Malignant tumor of breast

Reviewed By Expert Panel

CA003514

rs_80357284

21 SubmittersRCV000031239 RCV000131866 RCV000256177 RCV000496476 RCV001357644

NM_007294.4(BRCA1):c.5348T>C (p.Met1783Thr)

SNV
Germline

Chr17:43049179

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast neoplasm
Condition: not provided
Breast and/or ovarian cancer
Malignant tumor of breast
not specified
Hereditary cancer
Inherited breast cancer and ovarian cancer

Criteria Provided
Conflicting Classifications

CA003516

rs_55808233

20 SubmittersRCV000031240 RCV000129758 RCV000167822 RCV000414204 RCV000585920 RCV000735500 RCV001353920 RCV001818195 RCV003492309 RCV006277666

NM_007294.4(BRCA1):c.5363G>T (p.Gly1788Val)

SNV
Germline

Chr17:43049164

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified

Reviewed By Expert Panel

CA003530

rs_80357069

14 SubmittersRCV000031241 RCV000048961 RCV000162885 RCV000235698 RCV001002191

NM_007294.4(BRCA1):c.5387C>A (p.Ser1796Ter)

SNV
Germline

Chr17:43049140

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Reviewed By Expert Panel

CA003546

rs_80357055

9 SubmittersRCV000031244 RCV000048970 RCV000162886 RCV000522547

NM_007294.4(BRCA1):c.53T>C (p.Met18Thr)

SNV
Germline

Chr17:43124044

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Inherited ovarian cancer (without breast cancer)

Reviewed By Expert Panel

CA003550

rs_80356929

21 SubmittersRCV000031245 RCV000131693 RCV000212154 RCV001253789 RCV005237438

NM_007294.4(BRCA1):c.5406+1G>A

SNV
Germline

Chr17:43049120

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA003554

rs_80358028

6 SubmittersRCV000031247 RCV002345259 RCV005089326

NM_007294.4(BRCA1):c.5406+5G>T

SNV
Germline

Chr17:43049116

Pathogenic/Likely pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA003561

rs_80358073

10 SubmittersRCV000031248 RCV000160008 RCV000476190 RCV000562618

NM_007294.4(BRCA1):c.5408G>C (p.Gly1803Ala)

SNV
Germline

Chr17:43047702

Pathogenic/Likely pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA003574

rs_80357149

8 SubmittersRCV000031249 RCV001024053 RCV000985440 RCV001326886

NM_007294.4(BRCA1):c.5434C>G (p.Pro1812Ala)

SNV
Germline

Chr17:43047676

Pathogenic/Likely pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome
Fanconi anemia, complementation group S

Criteria Provided
Multiple Submitters
No Conflicts

CA003596

rs_1800751

16 SubmittersRCV000031251 RCV000484398 RCV000574861 RCV000496797 RCV001390965 RCV005357183

NM_007294.4(BRCA1):c.5453A>G (p.Asp1818Gly)

SNV
Germline

Chr17:43047657

Pathogenic/Likely pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast and/or ovarian cancer
BRCA1-related cancer predisposition

Criteria Provided
Multiple Submitters
No Conflicts

CA003605

rs_80357477

12 SubmittersRCV000031253 RCV000215390 RCV000257937 RCV001095362 RCV004802994

NM_007294.4(BRCA1):c.5467+1G>A

SNV
Germline

Chr17:43047642

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA003610

rs_80358145

13 SubmittersRCV000031254 RCV000049003 RCV000162888 RCV000430282

NM_007294.4(BRCA1):c.547+2T>A

SNV
Germline

Chr17:43099773

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Breast and/or ovarian cancer

Reviewed By Expert Panel

CA003636

rs_80358047

18 SubmittersRCV000031255 RCV000034759 RCV000481282 RCV000563139 RCV003149593

NM_007294.4(BRCA1):c.548-3T>C

SNV
Germline

Chr17:43097292

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA003654

rs_397507252

8 SubmittersRCV000031258 RCV000473116 RCV000482750 RCV000771276

NM_007294.4(BRCA1):c.5509T>C (p.Trp1837Arg)

SNV
Germline

Chr17:43045761

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Familial cancer of breast
Fanconi anemia, complementation group S
Breast-ovarian cancer, familial, susceptibility to, 1

Reviewed By Expert Panel

CA003680

rs_80356959

21 SubmittersRCV000031260 RCV000129546 RCV000236322 RCV000779893 RCV005357184

NM_007294.4(BRCA1):c.5511G>T (p.Trp1837Cys)

SNV
Germline

Chr17:43045759

Pathogenic/Likely pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA003686

rs_80356914

8 SubmittersRCV000031261 RCV000049030 RCV000774925 RCV005055528

NM_007294.4(BRCA1):c.5521A>C (p.Ser1841Arg)

SNV
Germline

Chr17:43045749

Likely pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
not specified
Condition: not provided
Breast and/or ovarian cancer
Hereditary breast ovarian cancer syndrome
Inherited breast cancer and ovarian cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA003694

rs_80357299

10 SubmittersRCV000031262 RCV000496641 RCV000501320 RCV000735509 RCV002513284 RCV006276053

NM_007294.4(BRCA1):c.593+9A>G

SNV
Germline

Chr17:43097235

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
not specified
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Fanconi anemia, complementation group S
Breast-ovarian cancer, familial, susceptibility to, 1
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA003751

rs_80358133

9 SubmittersRCV000031266 RCV000433193 RCV000531917 RCV000580719 RCV003736546 RCV005394185

NM_007294.4(BRCA1):c.661G>T (p.Ala221Ser)

SNV
Germline

Chr17:43095855

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
not specified
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA003780

rs_80357088

10 SubmittersRCV000031271 RCV000200971 RCV000165438 RCV001498329 RCV001703433

NM_007294.4(BRCA1):c.670+8C>T

SNV
Germline

Chr17:43095838

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
not specified
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA003797

rs_80358050

6 SubmittersRCV000031273 RCV000049088 RCV000496492 RCV000581155

NM_007294.4(BRCA1):c.745A>T (p.Thr249Ser)

SNV
Germline

Chr17:43094786

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA003847

rs_397507256

8 SubmittersRCV000031277 RCV000221443 RCV000590556 RCV001063586

NM_007294.4(BRCA1):c.783T>G (p.Tyr261Ter)

SNV
Germline

Chr17:43094748

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA003865

rs_80357321

12 SubmittersRCV000031278 RCV000212162 RCV000509946 RCV000496530

NM_007294.4(BRCA1):c.81-6T>C

SNV
Germline

Chr17:43115785

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
not specified
Hereditary cancer-predisposing syndrome
Breast and/or ovarian cancer
Malignant tumor of breast
Condition: not provided
BRCA1-related disorder

Criteria Provided
Conflicting Classifications

CA003916

rs_80358179

17 SubmittersRCV000031284 RCV000123287 RCV000423870 RCV000581130 RCV000768652 RCV001353944 RCV001811229 RCV004554637

NM_007294.4(BRCA1):c.85G>T (p.Glu29Ter)

SNV
Germline

Chr17:43115775

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Condition: not provided

Reviewed By Expert Panel

CA003943

rs_80357443

9 SubmittersRCV000031288 RCV001389948 RCV001800321

NM_007294.4(BRCA1):c.956A>G (p.Asn319Ser)

SNV
Germline

Chr17:43094575

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA003983

rs_397507258

4 SubmittersRCV000031292 RCV001019486 RCV001314773

NM_007294.4(BRCA1):c.962G>A (p.Trp321Ter)

SNV
Germline

Chr17:43094569

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Breast and/or ovarian cancer
Fanconi anemia, complementation group S
Breast-ovarian cancer, familial, susceptibility to, 1
Pancreatic cancer, susceptibility to, 4
Familial cancer of breast

Reviewed By Expert Panel

CA003986

rs_80357292

22 SubmittersRCV000031293 RCV000049204 RCV000162891 RCV000159948 RCV000239176 RCV000735517 RCV005016315 RCV004760347

NM_007294.4(BRCA1):c.988G>A (p.Asp330Asn)

SNV
Germline

Chr17:43094543

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
Fanconi anemia, complementation group S

Criteria Provided
Conflicting Classifications

CA004002

rs_397507259

8 SubmittersRCV000031294 RCV000165321 RCV001338193 RCV003321486 RCV005357187

NM_000059.4(BRCA2):c.-9T>C

SNV
Germline

Chr13:32316452

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA026356

rs_276174802

11 SubmittersRCV000031298 RCV000425748 RCV000584062 RCV000587310 RCV001085220 RCV005357189

NM_000059.4(BRCA2):c.10024G>A (p.Glu3342Lys)

SNV
Germline

Chr13:32398537

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA010063

rs_28897761

7 SubmittersRCV000031299 RCV000220854 RCV000445222 RCV000463710 RCV001705616

NM_000059.4(BRCA2):c.10154G>A (p.Arg3385His)

SNV
Germline

Chr13:32398667

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified
Breast and/or ovarian cancer
Condition: not provided
Hereditary breast ovarian cancer syndrome
Malignant tumor of breast
BRCA2-related disorder

Criteria Provided
Conflicting Classifications

CA010372

rs_80358398

16 SubmittersRCV000031303 RCV000162743 RCV000374528 RCV000768613 RCV000725588 RCV001086927 RCV001353958 RCV004532431

NM_000059.4(BRCA2):c.1166C>T (p.Pro389Leu)

SNV
Germline

Chr13:32332644

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
not specified
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA011022

rs_397507263

12 SubmittersRCV000031308 RCV000439294 RCV000589187 RCV000571104 RCV001085676 RCV002250483

NM_000059.4(BRCA2):c.1199T>C (p.Leu400Pro)

SNV
Germline

Chr13:32332677

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA011124

rs_397507264

4 SubmittersRCV000031310 RCV000229646 RCV000571637

NM_000059.4(BRCA2):c.1427C>G (p.Ser476Cys)

SNV
Germline

Chr13:32332905

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
not specified
8 conditions

Criteria Provided
Conflicting Classifications

CA012011

rs_80358431

15 SubmittersRCV000031320 RCV000132255 RCV000203653 RCV000589266 RCV001818197 RCV005007903

NM_000059.4(BRCA2):c.1460C>A (p.Ala487Glu)

SNV
Germline

Chr13:32332938

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Fanconi anemia complementation group D1
Hereditary breast ovarian cancer syndrome
not specified

Criteria Provided
Conflicting Classifications

CA012131

rs_56390402

18 SubmittersRCV000031322 RCV000131573 RCV000679155 RCV001109419 RCV001082494 RCV001818198

NM_000059.4(BRCA2):c.1472C>G (p.Thr491Ser)

SNV
Germline

Chr13:32332950

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
not specified
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA012168

rs_397507268

8 SubmittersRCV000031323 RCV000220125 RCV000566123 RCV000637774 RCV005357192

NM_000059.4(BRCA2):c.1487C>T (p.Ser496Phe)

SNV
Germline

Chr13:32332965

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified

Criteria Provided
Conflicting Classifications

CA012209

rs_397507269

7 SubmittersRCV000031324 RCV000205000 RCV000772728 RCV003330404

NM_000059.4(BRCA2):c.1550A>G (p.Asn517Ser)

SNV
Germline

Chr13:32333028

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Hereditary cancer

Criteria Provided
Conflicting Classifications

CA012378

rs_80358439

14 SubmittersRCV000031326 RCV000043826 RCV000129057 RCV000586299 RCV002267805 RCV005234811

NM_000059.4(BRCA2):c.1564G>C (p.Gly522Arg)

SNV
Germline

Chr13:32333042

Conflicting classifications of pathogenicity

Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified
Endometrial carcinoma
BRCA2-related cancer predisposition
BRCA2-related disorder

Criteria Provided
Conflicting Classifications

CA012430

rs_80358442

17 SubmittersRCV000034431 RCV000031327 RCV000043829 RCV000165147 RCV000200975 RCV001353896 RCV004803002 RCV004732558

NM_000059.4(BRCA2):c.1574C>T (p.Thr525Ile)

SNV
Germline

Chr13:32333052

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA012488

rs_397507271

9 SubmittersRCV000031328 RCV000219292 RCV001367198 RCV001723594

NM_000059.4(BRCA2):c.1600G>A (p.Glu534Lys)

SNV
Germline

Chr13:32333078

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
not specified
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA012611

rs_276174810

11 SubmittersRCV000031330 RCV000131321 RCV000215004 RCV001327852 RCV003317049 RCV004803003

NM_000059.4(BRCA2):c.1625T>C (p.Ile542Thr)

SNV
Germline

Chr13:32333103

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA012660

rs_397507273

9 SubmittersRCV000031331 RCV000222475 RCV000589631 RCV001222108 RCV005357193

NM_000059.4(BRCA2):c.1705C>A (p.Gln569Lys)

SNV
Germline

Chr13:32333183

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome
Condition: not provided
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA012949

rs_397507274

8 SubmittersRCV000215568 RCV000220050 RCV000470503 RCV001800322 RCV004803004

NM_000059.4(BRCA2):c.1756A>G (p.Lys586Glu)

SNV
Germline

Chr13:32333234

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast and/or ovarian cancer
not specified

Criteria Provided
Conflicting Classifications

CA013100

rs_397507275

10 SubmittersRCV000031336 RCV000166903 RCV000801636 RCV001753436 RCV003149594 RCV003323367

NM_000059.4(BRCA2):c.1799A>G (p.Tyr600Cys)

SNV
Germline

Chr13:32333277

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA013299

rs_397507276

4 SubmittersRCV000031338 RCV000567913 RCV002513285

NM_000059.4(BRCA2):c.179A>G (p.Asn60Ser)

SNV
Germline

Chr13:32319188

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome
Fanconi anemia complementation group D1
Condition: not provided
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA013307

rs_80358463

15 SubmittersRCV000031339 RCV000130469 RCV000168530 RCV001082266 RCV001114847 RCV001284556 RCV003607203

NM_000059.4(BRCA2):c.1800T>A (p.Tyr600Ter)

SNV
Germline

Chr13:32333278

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Familial cancer of breast

Reviewed By Expert Panel

CA013314

rs_80358464

13 SubmittersRCV000031340 RCV000131060 RCV000216426 RCV000496257 RCV003460500

NM_000059.4(BRCA2):c.1832C>A (p.Ser611Ter)

SNV
Germline

Chr13:32333310

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Malignant tumor of breast
Familial cancer of breast
BRCA2-related cancer predisposition

Reviewed By Expert Panel

CA013511

rs_80358474

21 SubmittersRCV000031345 RCV000043906 RCV000131056 RCV000212216 RCV001353665 RCV003460501 RCV004803010

NM_000059.4(BRCA2):c.1850C>A (p.Ser617Ter)

SNV
Germline

Chr13:32333328

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA013563

rs_397507278

6 SubmittersRCV000031346 RCV000587137 RCV000510116

NM_000059.4(BRCA2):c.1850C>G (p.Ser617Ter)

SNV
Germline

Chr13:32333328

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1

Reviewed By Expert Panel

CA013573

rs_397507278

6 SubmittersRCV000031347 RCV000509896 RCV006461235 RCV004771456

NM_000059.4(BRCA2):c.1970T>A (p.Leu657Ter)

SNV
Germline

Chr13:32336325

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Familial cancer of breast

Reviewed By Expert Panel

CA014065

rs_397507279

6 SubmittersRCV000031352 RCV000223168 RCV000558782 RCV000657697 RCV003473160

NM_000059.4(BRCA2):c.2026T>C (p.Cys676Arg)

SNV
Germline

Chr13:32336381

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA014166

rs_397507280

11 SubmittersRCV000031353 RCV000816423 RCV001014109 RCV001509436 RCV005357195

NM_000059.4(BRCA2):c.2152G>A (p.Glu718Lys)

SNV
Germline

Chr13:32336507

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial pancreatic carcinoma

Criteria Provided
Conflicting Classifications

CA014465

rs_397507281

9 SubmittersRCV000031356 RCV000462341 RCV000571025 RCV001588835 RCV005364891

NM_000059.4(BRCA2):c.2231C>G (p.Ser744Ter)

SNV
Germline

Chr13:32336586

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Familial cancer of breast

Reviewed By Expert Panel

CA014691

rs_397507282

10 SubmittersRCV000031358 RCV000572355 RCV000481885 RCV001385142 RCV003473162

NM_000059.4(BRCA2):c.2240A>G (p.Glu747Gly)

SNV
Germline

Chr13:32336595

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Fanconi anemia complementation group D1

Criteria Provided
Conflicting Classifications

CA014722

rs_397507283

13 SubmittersRCV000031359 RCV000204756 RCV000215823 RCV000487003 RCV000657147 RCV001112185

NM_000059.4(BRCA2):c.2281T>C (p.Tyr761His)

SNV
Germline

Chr13:32336636

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA014861

rs_80358499

10 SubmittersRCV000031360 RCV000043968 RCV000132108 RCV000995057

NM_000059.4(BRCA2):c.2320A>G (p.Thr774Ala)

SNV
Germline

Chr13:32336675

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
not specified
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
BRCA2-related disorder

Criteria Provided
Conflicting Classifications

CA014934

rs_55968715

19 SubmittersRCV000031362 RCV000120313 RCV000131357 RCV000225743 RCV001719707 RCV004532435

NM_000059.4(BRCA2):c.235A>G (p.Ile79Val)

SNV
Germline

Chr13:32319244

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Malignant tumor of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA015040

rs_80358502

9 SubmittersRCV000031364 RCV000500366 RCV000561580 RCV001588836 RCV001852621 RCV004803011

NM_000059.4(BRCA2):c.2409T>G (p.Tyr803Ter)

SNV
Germline

Chr13:32336764

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Breast and/or ovarian cancer
Familial cancer of breast

Reviewed By Expert Panel

CA015152

rs_80358504

16 SubmittersRCV000031365 RCV000043984 RCV000212221 RCV000573627 RCV000769686 RCV003473164

NM_000059.4(BRCA2):c.241T>A (p.Phe81Ile)

SNV
Germline

Chr13:32319250

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA015198

rs_80358507

16 SubmittersRCV000031366 RCV000043988 RCV000217504 RCV000586268 RCV002295275 RCV004803012

NM_000059.4(BRCA2):c.2426T>G (p.Leu809Ter)

SNV
Germline

Chr13:32336781

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Reviewed By Expert Panel

CA015222

rs_397507285

11 SubmittersRCV000031367 RCV000204854 RCV000160047 RCV000561108 RCV004566765

NM_000059.4(BRCA2):c.2491G>A (p.Val831Ile)

SNV
Germline

Chr13:32336846

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA015472

rs_397507287

15 SubmittersRCV000031369 RCV000204111 RCV000221646 RCV001269089 RCV001553524

NM_000059.4(BRCA2):c.2507C>T (p.Pro836Leu)

SNV
Germline

Chr13:32336862

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified

Criteria Provided
Conflicting Classifications

CA015505

rs_397507288

5 SubmittersRCV000031370 RCV001015788 RCV001852622 RCV001824581

NM_000059.4(BRCA2):c.2555A>G (p.Asn852Ser)

SNV
Germline

Chr13:32336910

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA015629

rs_80358519

6 SubmittersRCV000031371 RCV001015944 RCV001371141 RCV001800323

NM_000059.4(BRCA2):c.2572A>G (p.Arg858Gly)

SNV
Germline

Chr13:32336927

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA015667

rs_397507289

6 SubmittersRCV000031372 RCV000166715 RCV000160215 RCV000532132

NM_000059.4(BRCA2):c.2589T>A (p.Asn863Lys)

SNV
Germline

Chr13:32336944

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
BRCA2-related disorder

Criteria Provided
Conflicting Classifications

CA015734

rs_80358521

16 SubmittersRCV000031375 RCV000044020 RCV000130583 RCV000427575 RCV001284078 RCV004541034

NM_000059.4(BRCA2):c.2716A>G (p.Thr906Ala)

SNV
Germline

Chr13:32337071

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
not specified
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast and/or ovarian cancer
Condition: not provided
BRCA2-related disorder

Criteria Provided
Conflicting Classifications

CA016160

rs_80358528

13 SubmittersRCV000031379 RCV000160218 RCV000165093 RCV000204999 RCV000768588 RCV001719708 RCV004532436

NM_000059.4(BRCA2):c.274C>T (p.Gln92Ter)

SNV
Germline/somatic

Chr13:32319283

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Breast neoplasm
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA016251

rs_80358529

13 SubmittersRCV000031380 RCV000215800 RCV000212204 RCV000240677 RCV000496410

NM_000059.4(BRCA2):c.2758C>A (p.Pro920Thr)

SNV
Germline

Chr13:32337113

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA016278

rs_397507293

9 SubmittersRCV000031381 RCV000469857 RCV000776350 RCV001355877 RCV005229837

NM_000059.4(BRCA2):c.280C>T (p.Pro94Ser)

SNV
Germline

Chr13:32319289

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
Condition: not provided
Breast and/or ovarian cancer
Hereditary cancer
BRCA2-related disorder

Criteria Provided
Conflicting Classifications

CA016455

rs_80358531

22 SubmittersRCV000031384 RCV000129340 RCV000168018 RCV000254706 RCV000589736 RCV001798039 RCV004700291 RCV004732560

NM_000059.4(BRCA2):c.2818C>T (p.Gln940Ter)

SNV
Germline

Chr13:32337173

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast

Reviewed By Expert Panel

CA016502

rs_80358532

12 SubmittersRCV000031385 RCV000044068 RCV000131103 RCV000521686 RCV003460503

NM_000059.4(BRCA2):c.2827A>G (p.Ile943Val)

SNV
Germline

Chr13:32337182

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA016516

rs_397507294

7 SubmittersRCV000031386 RCV001320611 RCV001775544 RCV003156725

NM_000059.4(BRCA2):c.2908G>A (p.Asp970Asn)

SNV
Germline

Chr13:32337263

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Malignant tumor of breast
Condition: not provided
8 conditions
Breast and/or ovarian cancer
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA016740

rs_397507295

13 SubmittersRCV000031387 RCV000129877 RCV000196636 RCV000220683 RCV000588181 RCV000763884 RCV000735533 RCV004803013

NM_000059.4(BRCA2):c.2918C>T (p.Ser973Leu)

SNV
Germline

Chr13:32337273

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
not specified
Fanconi anemia complementation group D1
Ovarian cancer
Familial prostate cancer

Criteria Provided
Conflicting Classifications

CA016775

rs_397507296

15 SubmittersRCV000031388 RCV000165120 RCV000220429 RCV000471898 RCV000781108 RCV001111816 RCV003153311 RCV005357196

NM_000059.4(BRCA2):c.2937A>G (p.Ile979Met)

SNV
Germline

Chr13:32337292

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA016830

rs_397507297

4 SubmittersRCV000031389 RCV000772737 RCV003529924

NM_000059.4(BRCA2):c.2938G>T (p.Asp980Tyr)

SNV
Germline

Chr13:32337293

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA016836

rs_397507298

9 SubmittersRCV000031390 RCV000129246 RCV000506200 RCV000692326 RCV000766614

NM_000059.4(BRCA2):c.2946A>G (p.Ile982Met)

SNV
Germline

Chr13:32337301

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
not specified
Malignant tumor of breast
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA016856

rs_80358541

13 SubmittersRCV000031391 RCV000131646 RCV000590161 RCV001081289 RCV001175363 RCV001356963 RCV002250485

NM_000059.4(BRCA2):c.2979G>A (p.Trp993Ter)

SNV
Germline

Chr13:32337334

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Familial cancer of breast

Reviewed By Expert Panel

CA016943

rs_80358544

11 SubmittersRCV000031393 RCV000162915 RCV000203665 RCV003473167

NM_000059.4(BRCA2):c.2984G>C (p.Gly995Ala)

SNV
Germline

Chr13:32337339

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA016963

rs_397507299

4 SubmittersRCV000031394 RCV000574159 RCV001339914

NM_000059.4(BRCA2):c.3032C>G (p.Thr1011Arg)

SNV
Germline

Chr13:32337387

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Breast neoplasm
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
BRCA2-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA017069

rs_80358548

19 SubmittersRCV000031396 RCV000148418 RCV000164588 RCV000589304 RCV001080499 RCV004532437 RCV005237440

NM_000059.4(BRCA2):c.3109C>T (p.Gln1037Ter)

SNV
Germline/somatic

Chr13:32337464

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
8 conditions
Malignant tumor of breast
Familial cancer of breast
Breast and/or ovarian cancer
BRCA2-related disorder

Reviewed By Expert Panel

CA017251

rs_80358557

17 SubmittersRCV000031400 RCV000044120 RCV000160056 RCV000216711 RCV000762916 RCV001353509 RCV002250486 RCV003149595 RCV004541035

NM_000059.4(BRCA2):c.3158T>G (p.Leu1053Ter)

SNV
Germline

Chr13:32337513

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Familial cancer of breast

Reviewed By Expert Panel

CA017322

rs_41293477

17 SubmittersRCV000031401 RCV000162916 RCV000424640 RCV000496393 RCV003460504

NM_000059.4(BRCA2):c.316+1G>A

SNV
Germline

Chr13:32319326

Pathogenic/Likely pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA017358

rs_397507303

4 SubmittersRCV000031403 RCV000772114 RCV001378664

NM_000059.4(BRCA2):c.317-10A>G

SNV
Germline

Chr13:32325066

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Hereditary breast ovarian cancer syndrome
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA017438

rs_81002824

10 SubmittersRCV000031406 RCV001182332 RCV001284417 RCV001192566 RCV001483715 RCV005364892

NM_000059.4(BRCA2):c.3218A>G (p.Gln1073Arg)

SNV
Germline

Chr13:32337573

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Malignant tumor of breast
Breast and/or ovarian cancer
not specified
BRCA2-related disorder

Criteria Provided
Conflicting Classifications

CA017573

rs_80358566

16 SubmittersRCV000031409 RCV000129622 RCV000588491 RCV001083043 RCV001357102 RCV001798041 RCV003389627 RCV004732562

NM_000059.4(BRCA2):c.3262C>T (p.Pro1088Ser)

SNV
Germline

Chr13:32337617

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA017647

rs_80358572

25 SubmittersRCV000031410 RCV000044159 RCV000129258 RCV000585942 RCV001086347 RCV005364893

NM_000059.4(BRCA2):c.3299A>T (p.Asn1100Ile)

SNV
Germline

Chr13:32337654

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Inherited breast cancer and ovarian cancer
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA017736

rs_80358575

15 SubmittersRCV000031413 RCV000044173 RCV000129737 RCV000656794 RCV001085619 RCV004584178 RCV004803016

NM_000059.4(BRCA2):c.3308T>G (p.Leu1103Ter)

SNV
Germline

Chr13:32337663

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA017759

rs_397507305

5 SubmittersRCV000031415 RCV000798064 RCV001262729 RCV002321494

NM_000059.4(BRCA2):c.3321A>C (p.Gln1107His)

SNV
Germline

Chr13:32337676

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome
Condition: not provided
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA017780

rs_397507306

10 SubmittersRCV000031416 RCV000131343 RCV000780030 RCV000794728 RCV003476910 RCV004803018

NM_000059.4(BRCA2):c.3349A>G (p.Ile1117Val)

SNV
Germline

Chr13:32337704

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA017820

rs_397507307

7 SubmittersRCV000031418 RCV000480421 RCV000772028 RCV000688673

NM_000059.4(BRCA2):c.3422C>T (p.Thr1141Ile)

SNV
Germline

Chr13:32337777

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified

Criteria Provided
Conflicting Classifications

CA017995

rs_397507308

7 SubmittersRCV000031420 RCV000200443 RCV000579950 RCV000781057

NM_000059.4(BRCA2):c.3437A>G (p.Glu1146Gly)

SNV
Germline

Chr13:32337792

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
8 conditions

Criteria Provided
Conflicting Classifications

CA018008

rs_80358588

11 SubmittersRCV000031421 RCV000044192 RCV000129732 RCV000780046 RCV003151738 RCV005003411

NM_000059.4(BRCA2):c.3443A>G (p.Gln1148Arg)

SNV
Germline

Chr13:32337798

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified

Criteria Provided
Conflicting Classifications

CA018029

rs_200808363

7 SubmittersRCV000031422 RCV000222474 RCV000467374 RCV001193843

NM_000059.4(BRCA2):c.3453C>G (p.Ile1151Met)

SNV
Germline

Chr13:32337808

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA018084

rs_80358592

12 SubmittersRCV000031423 RCV000132398 RCV000212229 RCV001086601 RCV001703436

NM_000059.4(BRCA2):c.3509C>T (p.Ala1170Val)

SNV
Germline

Chr13:32337864

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome
Condition: not provided
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA018216

rs_80358599

16 SubmittersRCV000031425 RCV000217936 RCV000440300 RCV001392166 RCV001703437 RCV005364894

NM_000059.4(BRCA2):c.353G>A (p.Arg118His)

SNV
Germline

Chr13:32325112

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
Malignant tumor of pancreas
Familial cancer of breast
Familial prostate cancer

Criteria Provided
Conflicting Classifications

CA018293

rs_80358603

15 SubmittersRCV000031426 RCV000044218 RCV000200972 RCV000164685 RCV000587352 RCV000677866 RCV003607204 RCV005357198

NM_000059.4(BRCA2):c.3569G>A (p.Arg1190Gln)

SNV
Germline

Chr13:32337924

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
not specified
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA018360

rs_80358605

14 SubmittersRCV000031428 RCV000130051 RCV000587455 RCV001082730 RCV003234930 RCV005364895

NM_000059.4(BRCA2):c.3620A>G (p.Tyr1207Cys)

SNV
Germline

Chr13:32337975

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA018414

rs_397507310

6 SubmittersRCV000031429 RCV000218950 RCV000557673 RCV000569223

NM_000059.4(BRCA2):c.3658T>C (p.Tyr1220His)

SNV
Germline

Chr13:32338013

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA018482

rs_397507312

3 SubmittersRCV000031431 RCV001216931 RCV003156726

NM_000059.4(BRCA2):c.3662C>A (p.Ser1221Tyr)

SNV
Germline

Chr13:32338017

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified

Criteria Provided
Conflicting Classifications

CA018495

rs_397507313

9 SubmittersRCV000031432 RCV000160066 RCV000698137 RCV000772742 RCV003317050

NM_000059.4(BRCA2):c.3794G>T (p.Cys1265Phe)

SNV
Germline

Chr13:32338149

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA018818

rs_397507315

8 SubmittersRCV000031438 RCV000131347 RCV000555191 RCV001800324

NM_000059.4(BRCA2):c.3910A>G (p.Thr1304Ala)

SNV
Germline

Chr13:32338265

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified
Breast and/or ovarian cancer
Malignant tumor of breast
Familial cancer of breast
BRCA2-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA019137

rs_28897723

16 SubmittersRCV000031446 RCV000044305 RCV000130607 RCV000417556 RCV001170462 RCV001353744 RCV003607206 RCV004532440 RCV004998117

NM_000059.4(BRCA2):c.3922G>T (p.Glu1308Ter)

SNV
Germline

Chr13:32338277

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Familial cancer of breast
BRCA2-related disorder
8 conditions
BRCA2-related cancer predisposition

Reviewed By Expert Panel

CA019195

rs_80358638

24 SubmittersRCV000031448 RCV000044312 RCV000128952 RCV000167856 RCV000465243 RCV004532441 RCV005003414 RCV004803025

NM_000059.4(BRCA2):c.396T>A (p.Cys132Ter)

SNV
Germline

Chr13:32325155

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA019311

rs_397507320

7 SubmittersRCV000031450 RCV000520725 RCV001384950

NM_000059.4(BRCA2):c.3G>T (p.Met1Ile)

SNV
Germline

Chr13:32316463

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Breast and/or ovarian cancer
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA019369

rs_80358650

6 SubmittersRCV000031452 RCV000496217 RCV000735545 RCV004948138

NM_000059.4(BRCA2):c.4054G>T (p.Asp1352Tyr)

SNV
Germline

Chr13:32338409

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Breast and/or ovarian cancer
Hereditary breast ovarian cancer syndrome
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA019440

rs_80358655

13 SubmittersRCV000031455 RCV000565185 RCV000481701 RCV000770723 RCV001345237 RCV004803026

NM_000059.4(BRCA2):c.4151T>A (p.Leu1384Ter)

SNV
Germline

Chr13:32338506

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA019626

rs_397507325

5 SubmittersRCV000031465 RCV001383064 RCV001524855

NM_000059.4(BRCA2):c.4189G>A (p.Glu1397Lys)

SNV
Germline

Chr13:32338544

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
not specified
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
BRCA2-related disorder

Criteria Provided
Conflicting Classifications

CA019698

rs_28897726

11 SubmittersRCV000031468 RCV000044370 RCV000203656 RCV000509937 RCV000586214 RCV003483437

NM_000059.4(BRCA2):c.4222C>T (p.Gln1408Ter)

SNV
Germline

Chr13:32338577

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
BRCA2-related disorder
Familial cancer of breast

Reviewed By Expert Panel

CA019744

rs_80358663

15 SubmittersRCV000031470 RCV000044373 RCV000215029 RCV000480509 RCV004532442 RCV003473172

NM_000059.4(BRCA2):c.4243G>T (p.Glu1415Ter)

SNV
Germline

Chr13:32338598

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary cancer-predisposing syndrome
8 conditions
Hereditary breast ovarian cancer syndrome
Familial cancer of breast

Reviewed By Expert Panel

CA019770

rs_397507327

15 SubmittersRCV000031471 RCV000219707 RCV000510028 RCV000762917 RCV001385296 RCV003460510

NM_000059.4(BRCA2):c.4316C>A (p.Ala1439Asp)

SNV
Germline

Chr13:32338671

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA019966

rs_80358667

13 SubmittersRCV000031474 RCV000131416 RCV000212234 RCV000656795 RCV001316319

NM_000059.4(BRCA2):c.4357A>G (p.Lys1453Glu)

SNV
Germline

Chr13:32338712

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
not specified
8 conditions
BRCA2-related disorder
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA020036

rs_397507330

13 SubmittersRCV000119103 RCV000166887 RCV000204586 RCV000589133 RCV001358664 RCV002477033 RCV003483438 RCV004803030

NM_000059.4(BRCA2):c.4376A>G (p.Asn1459Ser)

SNV
Germline

Chr13:32338731

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast neoplasm
Condition: not provided
Ovarian cancer
Invasive lobular breast carcinoma
Familial cancer of breast
not specified
BRCA2-related cancer predisposition
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA020060

rs_117187202

14 SubmittersRCV000031479 RCV000044400 RCV000166927 RCV000240790 RCV000481899 RCV000677824 RCV000677823 RCV002250488 RCV003234931 RCV004803031 RCV005357200

NM_000059.4(BRCA2):c.451G>A (p.Val151Ile)

SNV
Germline

Chr13:32326126

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
BRCA2-related disorder

Criteria Provided
Conflicting Classifications

CA020315

rs_397507335

5 SubmittersRCV000031489 RCV000561223 RCV000685146 RCV002281724 RCV004532444

NM_000059.4(BRCA2):c.4574A>G (p.His1525Arg)

SNV
Germline

Chr13:32338929

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
8 conditions
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA020478

rs_397507336

8 SubmittersRCV000031490 RCV000214334 RCV000229506 RCV002490437 RCV004998118 RCV005237441

NM_000059.4(BRCA2):c.4594G>T (p.Val1532Phe)

SNV
Germline

Chr13:32338949

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA020521

rs_80358693

8 SubmittersRCV000031492 RCV001343720 RCV002336100

NM_000059.4(BRCA2):c.4637T>C (p.Phe1546Ser)

SNV
Germline

Chr13:32338992

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA020566

rs_397507337

7 SubmittersRCV000031495 RCV000132332 RCV001044392 RCV002269258

NM_000059.4(BRCA2):c.464G>C (p.Arg155Thr)

SNV
Germline

Chr13:32326139

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
not specified
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
8 conditions

Criteria Provided
Conflicting Classifications

CA020592

rs_377639990

9 SubmittersRCV000031497 RCV000160022 RCV000199441 RCV000582907 RCV000656793 RCV002477034

NM_000059.4(BRCA2):c.4741G>A (p.Glu1581Lys)

SNV
Germline

Chr13:32339096

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA020741

rs_368952892

12 SubmittersRCV000031501 RCV000165611 RCV000637419 RCV004525860 RCV004812296

NM_000059.4(BRCA2):c.476-1G>A

SNV
Germline

Chr13:32326241

Pathogenic/Likely pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Multiple myeloma

Criteria Provided
Multiple Submitters
No Conflicts

CA020789

rs_397507340

6 SubmittersRCV000031503 RCV000772115 RCV003529925 RCV004595892

NM_000059.4(BRCA2):c.476-2A>G

SNV
Germline

Chr13:32326240

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Breast and/or ovarian cancer
Hereditary breast ovarian cancer syndrome
Familial cancer of breast

Reviewed By Expert Panel

CA020792

rs_81002853

14 SubmittersRCV000031504 RCV000131855 RCV000506489 RCV001271039 RCV001387341 RCV003473180

NM_000059.4(BRCA2):c.476-3C>T

SNV
Germline

Chr13:32326239

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome
Condition: not provided
Malignant tumor of breast
BRCA2-related disorder

Criteria Provided
Conflicting Classifications

CA020799

rs_371431745

9 SubmittersRCV000031506 RCV000132383 RCV000438966 RCV000559561 RCV001719709 RCV001356001 RCV004541039

NM_000059.4(BRCA2):c.4819A>G (p.Ile1607Val)

SNV
Germline

Chr13:32339174

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA020868

rs_200582465

11 SubmittersRCV000031507 RCV000221891 RCV000233915 RCV000221701 RCV000657070

NM_000059.4(BRCA2):c.4828G>A (p.Val1610Met)

SNV
Germline

Chr13:32339183

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
not specified
Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group D1
Condition: not provided
Breast and/or ovarian cancer

Criteria Provided
Conflicting Classifications

CA020880

rs_80358705

16 SubmittersRCV000031508 RCV000044498 RCV000074530 RCV000130783 RCV001112023 RCV001353552 RCV003492312

NM_000059.4(BRCA2):c.4850G>A (p.Ser1617Asn)

SNV
Germline

Chr13:32339205

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA020915

rs_397507341

11 SubmittersRCV000031509 RCV000166443 RCV000437440 RCV000697920 RCV001703438

NM_000059.4(BRCA2):c.4905G>T (p.Leu1635Phe)

SNV
Germline

Chr13:32339260

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA020991

rs_397507342

7 SubmittersRCV000031511 RCV000461109 RCV000581537 RCV004803037

NM_000059.4(BRCA2):c.4910T>G (p.Val1637Gly)

SNV
Germline

Chr13:32339265

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA020995

rs_397507343

4 SubmittersRCV000031512 RCV000130557 RCV001228952

NM_000059.4(BRCA2):c.4915G>A (p.Val1639Ile)

SNV
Germline

Chr13:32339270

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Breast neoplasm
Condition: not provided
Hereditary breast ovarian cancer syndrome
not specified
Familial pancreatic carcinoma

Criteria Provided
Conflicting Classifications

CA020999

rs_80358716

15 SubmittersRCV000031513 RCV000129029 RCV000240704 RCV000587911 RCV001083151 RCV004562220 RCV005357202

NM_000059.4(BRCA2):c.4965C>G (p.Tyr1655Ter)

SNV
Germline

Chr13:32339320

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Fanconi anemia complementation group D1
Hereditary breast ovarian cancer syndrome
not specified
8 conditions
Ovarian neoplasm
Fanconi anemia complementation group D1
Malignant tumor of breast
Familial cancer of breast
BRCA2-related cancer predisposition
Inherited ovarian cancer (without breast cancer)
Breast-ovarian cancer, familial, susceptibility to, 1

Reviewed By Expert Panel

CA021070

rs_80358721

32 SubmittersRCV000031517 RCV000044533 RCV000128925 RCV000194794 RCV000195354 RCV000496311 RCV000762918 RCV000785221 RCV001269282 RCV001353669 RCV003473182 RCV004803038 RCV004808557 RCV005861028

NM_000059.4(BRCA2):c.4979C>T (p.Pro1660Leu)

SNV
Germline

Chr13:32339334

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA021095

rs_397507345

5 SubmittersRCV000031518 RCV000166270 RCV001042145

NM_000059.4(BRCA2):c.5000C>G (p.Ser1667Ter)

SNV
Germline

Chr13:32339355

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA021122

rs_397507346

4 SubmittersRCV000031519 RCV000582842 RCV001042671

NM_000059.4(BRCA2):c.506A>G (p.Lys169Arg)

SNV
Germline

Chr13:32326272

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
not specified
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group D1
Condition: not provided
Breast and/or ovarian cancer
BRCA2-related disorder

Criteria Provided
Conflicting Classifications

CA021201

rs_80358730

17 SubmittersRCV000031522 RCV000074532 RCV000044547 RCV000129126 RCV001111540 RCV001281705 RCV001798044 RCV004541040

NM_000059.4(BRCA2):c.5080A>T (p.Arg1694Ter)

SNV
Germline

Chr13:32339435

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1

Reviewed By Expert Panel

CA021220

rs_200265692

9 SubmittersRCV000031525 RCV000255681 RCV001035630 RCV001186724 RCV005861029

NM_000059.4(BRCA2):c.5084A>G (p.Glu1695Gly)

SNV
Germline

Chr13:32339439

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA021226

rs_397507347

6 SubmittersRCV000031526 RCV000173968 RCV001023510 RCV000805560

NM_000059.4(BRCA2):c.5164A>T (p.Ser1722Cys)

SNV
Germline

Chr13:32339519

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Pancreatic cancer, susceptibility to, 2
Condition: not provided
not specified
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA021504

rs_80358741

11 SubmittersRCV000031529 RCV000218602 RCV000637658 RCV001787821 RCV001800326 RCV002247403 RCV004803040

NM_000059.4(BRCA2):c.5227A>T (p.Ser1743Cys)

SNV
Germline

Chr13:32339582

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA021787

rs_397507348

3 SubmittersRCV000031533 RCV001247955 RCV003156727

NM_000059.4(BRCA2):c.5423T>C (p.Ile1808Thr)

SNV
Germline

Chr13:32339778

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer

Criteria Provided
Conflicting Classifications

CA022301

rs_397507350

12 SubmittersRCV000031545 RCV000217283 RCV000432442 RCV000587412 RCV000697860 RCV004700292

NM_000059.4(BRCA2):c.5495C>G (p.Ser1832Cys)

SNV
Germline

Chr13:32339850

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
not specified
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA022446

rs_138489917

11 SubmittersRCV000031550 RCV000120329 RCV000129225 RCV000470070 RCV001284573 RCV005888835

NM_000059.4(BRCA2):c.551T>C (p.Leu184Pro)

SNV
Germline

Chr13:32326533

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
Familial cancer of breast
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA022493

rs_80358775

11 SubmittersRCV000031552 RCV000200973 RCV001024218 RCV001413498 RCV002271380 RCV004566771 RCV004803045

NM_000059.4(BRCA2):c.5554G>A (p.Val1852Ile)

SNV
Germline

Chr13:32339909

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA022546

rs_80358777

15 SubmittersRCV000031554 RCV000044680 RCV000164924 RCV000656609 RCV001193956

NM_000059.4(BRCA2):c.5575A>G (p.Ile1859Val)

SNV
Germline

Chr13:32339930

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA022595

rs_397507354

12 SubmittersRCV000031555 RCV000166864 RCV000229983 RCV000590140

NM_000059.4(BRCA2):c.5614A>T (p.Lys1872Ter)

SNV
Germline

Chr13:32339969

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast

Reviewed By Expert Panel

CA022708

rs_80358783

14 SubmittersRCV000113450 RCV000044696 RCV000162926 RCV000212241 RCV003473191

NM_000059.4(BRCA2):c.5645C>A (p.Ser1882Ter)

SNV
Germline

Chr13:32340000

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast neoplasm
Familial cancer of breast
Breast and/or ovarian cancer
Ovarian neoplasm
not specified
Prostate cancer
Metastatic Prostate Small Cell Carcinoma
Breast carcinoma
8 conditions
Gastric cancer
BRCA2-related disorder
BRCA2-related cancer predisposition

Reviewed By Expert Panel

CA022818

rs_80358785

46 SubmittersRCV000031565 RCV000044705 RCV000131114 RCV000167830 RCV000240722 RCV000585709 RCV000735569 RCV000785224 RCV001002489 RCV001281099 RCV001799612 RCV002496484 RCV003162274 RCV003483439 RCV004803049

NM_000059.4(BRCA2):c.5655C>A (p.Cys1885Ter)

SNV
Germline

Chr13:32340010

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA022870

rs_80358789

15 SubmittersRCV000031566 RCV000044709 RCV000160093 RCV000220539

NM_000059.4(BRCA2):c.566A>G (p.Asp189Gly)

SNV
Germline

Chr13:32326548

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA022922

rs_397507359

7 SubmittersRCV000031567 RCV000542458 RCV000567705 RCV006449946

NM_000059.4(BRCA2):c.5672C>T (p.Ala1891Val)

SNV
Germline

Chr13:32340027

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
8 conditions

Criteria Provided
Conflicting Classifications

CA022933

rs_397507360

10 SubmittersRCV000031568 RCV000460706 RCV000562290 RCV000758912 RCV002477036

NM_000059.4(BRCA2):c.5682C>G (p.Tyr1894Ter)

SNV
Germline

Chr13:32340037

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Ovarian cancer
9 conditions
Breast and/or ovarian cancer
Ovarian neoplasm
Familial cancer of breast
8 conditions
Breast-ovarian cancer, familial, susceptibility to, 1
BRCA2-related disorder
Inherited breast cancer and ovarian cancer

Reviewed By Expert Panel

CA022962

rs_41293497

44 SubmittersRCV000031570 RCV000044719 RCV000131121 RCV000160095 RCV000148424 RCV000515199 RCV000735572 RCV000785225 RCV002250489 RCV002477037 RCV003493419 RCV004732568 RCV005252701

NM_000059.4(BRCA2):c.5723T>C (p.Leu1908Pro)

SNV
Germline

Chr13:32340078

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast and/or ovarian cancer
not specified

Criteria Provided
Conflicting Classifications

CA023052

rs_80358797

13 SubmittersRCV000031572 RCV000220622 RCV001486114 RCV001689581 RCV001798048 RCV002468982

NM_000059.4(BRCA2):c.5737T>C (p.Cys1913Arg)

SNV
Germline

Chr13:32340092

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA023103

rs_80358799

12 SubmittersRCV000031573 RCV000044738 RCV000132499 RCV000212244 RCV000586429 RCV002272032

NM_000059.4(BRCA2):c.5782G>T (p.Glu1928Ter)

SNV
Germline

Chr13:32340137

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Malignant tumor of breast
Familial cancer of breast
Low grade glioma
Condition: not provided

Reviewed By Expert Panel

CA023221

rs_56253082

14 SubmittersRCV000031577 RCV000044754 RCV000581432 RCV001356842 RCV003460518 RCV006454641 RCV004998119

NM_000059.4(BRCA2):c.582G>A (p.Trp194Ter)

SNV
Germline/somatic

Chr13:32326564

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Malignant tumor of urinary bladder
Inherited breast cancer and ovarian cancer
BRCA2-related cancer predisposition
Condition: not provided

Reviewed By Expert Panel

CA023281

rs_80358810

12 SubmittersRCV000031581 RCV000562057 RCV001387735 RCV003332089 RCV005237442 RCV005357206 RCV006270341

NM_000059.4(BRCA2):c.5855T>A (p.Leu1952Ter)

SNV
Germline

Chr13:32340210

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA023306

rs_375064902

7 SubmittersRCV000031583 RCV000149889 RCV000563543

NM_000059.4(BRCA2):c.5882G>A (p.Ser1961Asn)

SNV
Germline

Chr13:32340237

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA023336

rs_80358820

14 SubmittersRCV000031585 RCV000044784 RCV000128953 RCV000439783 RCV001703439

NM_000059.4(BRCA2):c.5896C>T (p.His1966Tyr)

SNV
Germline

Chr13:32340251

Conflicting classifications of pathogenicity

not specified
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Malignant tumor of breast
Condition: not provided
Inherited breast cancer and ovarian cancer

Criteria Provided
Conflicting Classifications

CA023347

rs_80358822

17 SubmittersRCV000044787 RCV000031586 RCV000131689 RCV000225745 RCV001356911 RCV001800329 RCV004691727

NM_000059.4(BRCA2):c.5897A>G (p.His1966Arg)

SNV
Germline

Chr13:32340252

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
not specified

Criteria Provided
Conflicting Classifications

CA023349

rs_80358823

11 SubmittersRCV000031587 RCV000130475 RCV000586187 RCV001083441 RCV002509172

NM_000059.4(BRCA2):c.5909C>A (p.Ser1970Ter)

SNV
Germline

Chr13:32340264

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Breast and/or ovarian cancer
Malignant tumor of breast
Familial cancer of breast
Inherited breast cancer and ovarian cancer

Reviewed By Expert Panel

CA023362

rs_80358824

25 SubmittersRCV000031588 RCV000131108 RCV000255943 RCV000257911 RCV000735577 RCV001354008 RCV003460519 RCV004782025

NM_000059.4(BRCA2):c.5909C>T (p.Ser1970Leu)

SNV
Germline

Chr13:32340264

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA023364

rs_80358824

5 SubmittersRCV000031589 RCV000228606 RCV000583874

NM_000059.4(BRCA2):c.5937C>G (p.Ser1979Arg)

SNV
Germline

Chr13:32340292

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
not specified
Breast and/or ovarian cancer
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA023388

rs_28897737

12 SubmittersRCV000031590 RCV000167183 RCV000168414 RCV000587913 RCV001268976 RCV001798049 RCV004803052

NM_000059.4(BRCA2):c.5945G>C (p.Ser1982Thr)

SNV
Germline

Chr13:32340300

Conflicting classifications of pathogenicity

not specified
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
BRCA2-related disorder

Criteria Provided
Conflicting Classifications

CA023396

rs_28897738

10 SubmittersRCV000044796 RCV000113507 RCV000203657 RCV000510094 RCV000590082 RCV003483440

NM_000059.4(BRCA2):c.5980C>T (p.Gln1994Ter)

SNV
Germline

Chr13:32340335

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Familial cancer of breast
Condition: not provided
Hereditary cancer-predisposing syndrome
Gastric cancer

Reviewed By Expert Panel

CA023442

rs_80358831

11 SubmittersRCV000031592 RCV000044810 RCV000457725 RCV000758915 RCV000772034 RCV003162276

NM_000059.4(BRCA2):c.5986G>T (p.Ala1996Ser)

SNV
Germline

Chr13:32340341

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary breast ovarian cancer syndrome
8 conditions
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA023458

rs_80358833

8 SubmittersRCV000031593 RCV000501578 RCV000637722 RCV000763892 RCV001024750

NM_000059.4(BRCA2):c.6020C>A (p.Thr2007Asn)

SNV
Germline

Chr13:32340375

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA023530

rs_397507363

9 SubmittersRCV000031595 RCV001024817 RCV000803896 RCV004998120

NM_000059.4(BRCA2):c.6037A>T (p.Lys2013Ter)

SNV
Germline

Chr13:32340392

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Familial cancer of breast

Reviewed By Expert Panel

CA023562

rs_80358840

21 SubmittersRCV000031597 RCV000044827 RCV000131111 RCV000217667 RCV000506478 RCV003473197

NM_000059.4(BRCA2):c.6125A>C (p.Gln2042Pro)

SNV
Germline

Chr13:32340480

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
not specified
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA023678

rs_80358852

14 SubmittersRCV000031599 RCV000131951 RCV000203091 RCV000587844 RCV002265571 RCV004803054

NM_000059.4(BRCA2):c.6125A>G (p.Gln2042Arg)

SNV
Germline

Chr13:32340480

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA023680

rs_80358852

10 SubmittersRCV000031600 RCV000160108 RCV000219164 RCV000200820 RCV000779953 RCV005357207

NM_000059.4(BRCA2):c.6131G>C (p.Gly2044Ala)

SNV
Germline

Chr13:32340486

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Breast and/or ovarian cancer
Hereditary breast ovarian cancer syndrome
Malignant tumor of breast
Fanconi anemia complementation group D1
not specified

Criteria Provided
Conflicting Classifications

CA023684

rs_56191579

17 SubmittersRCV000031601 RCV000166682 RCV000586884 RCV000768600 RCV001085159 RCV001353819 RCV001330945 RCV004562221

NM_000059.4(BRCA2):c.6131G>T (p.Gly2044Val)

SNV
Germline

Chr13:32340486

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary cancer-predisposing syndrome
not specified
Breast neoplasm
Hereditary breast ovarian cancer syndrome
Fanconi anemia complementation group D1
Malignant tumor of breast
Breast and/or ovarian cancer

Criteria Provided
Conflicting Classifications

CA023686

rs_56191579

16 SubmittersRCV000031602 RCV000044854 RCV000130525 RCV000421588 RCV000413633 RCV001086174 RCV001112564 RCV001358172 RCV003492315

NM_000059.4(BRCA2):c.6188G>A (p.Gly2063Glu)

SNV
Germline

Chr13:32340543

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA023726

rs_397507364

4 SubmittersRCV000031604 RCV000164734 RCV001059846

NM_000059.4(BRCA2):c.6196G>A (p.Val2066Ile)

SNV
Germline

Chr13:32340551

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
not specified
8 conditions

Criteria Provided
Conflicting Classifications

CA023729

rs_397507365

13 SubmittersRCV000031605 RCV000132349 RCV000476966 RCV000588799 RCV000855632 RCV005007912

NM_000059.4(BRCA2):c.6199T>A (p.Ser2067Thr)

SNV
Germline

Chr13:32340554

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA023733

rs_143806921

6 SubmittersRCV000031606 RCV000509673 RCV000507742 RCV000700945

NM_000059.4(BRCA2):c.6206T>G (p.Leu2069Ter)

SNV
Germline

Chr13:32340561

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Reviewed By Expert Panel

CA023746

rs_80358859

16 SubmittersRCV000031607 RCV000044867 RCV000486394 RCV000568590 RCV003473198

NM_000059.4(BRCA2):c.6215C>G (p.Ser2072Cys)

SNV
Germline

Chr13:32340570

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
Breast and/or ovarian cancer
BRCA2-related disorder
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA023758

rs_80358862

17 SubmittersRCV000031608 RCV000044872 RCV000120333 RCV000130542 RCV000766634 RCV000769699 RCV004532452 RCV004803055

NM_000059.4(BRCA2):c.6269A>G (p.His2090Arg)

SNV
Germline

Chr13:32340624

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
not specified
Malignant tumor of breast
Breast and/or ovarian cancer
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA023799

rs_397507366

13 SubmittersRCV000031611 RCV000562031 RCV001214226 RCV001284435 RCV001175040 RCV001354947 RCV003492316 RCV004803056

NM_000059.4(BRCA2):c.62A>G (p.Lys21Arg)

SNV
Germline

Chr13:32316522

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
not specified
Malignant tumor of breast
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA023837

rs_397507367

13 SubmittersRCV000031614 RCV000129552 RCV000122923 RCV000656792 RCV001193807 RCV001357067 RCV004803058

NM_000059.4(BRCA2):c.6313A>G (p.Ile2105Val)

SNV
Germline

Chr13:32340668

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA023857

rs_397507368

4 SubmittersRCV000031616 RCV000637370 RCV001025126

NM_000059.4(BRCA2):c.631G>C (p.Val211Leu)

SNV
Germline

Chr13:32326613

Pathogenic/Likely pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
BRCA2-related cancer predisposition

Criteria Provided
Multiple Submitters
No Conflicts

CA023872

rs_80358871

11 SubmittersRCV000031617 RCV000438397 RCV000562565 RCV001328441 RCV004803059

NM_000059.4(BRCA2):c.6344A>G (p.Glu2115Gly)

SNV
Germline

Chr13:32340699

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA023933

rs_397507370

6 SubmittersRCV000031622 RCV001351427 RCV002257368

NM_000059.4(BRCA2):c.6441C>G (p.His2147Gln)

SNV
Germline

Chr13:32340796

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
not specified
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA024038

rs_80358879

7 SubmittersRCV000031627 RCV000044948 RCV000496559 RCV001025273

NM_000059.4(BRCA2):c.6541G>C (p.Gly2181Arg)

SNV
Germline

Chr13:32340896

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
BRCA2-related disorder
Inherited breast cancer and ovarian cancer

Criteria Provided
Conflicting Classifications

CA024155

rs_371067421

11 SubmittersRCV000031633 RCV000205463 RCV000420330 RCV000567616 RCV000586226 RCV004732572 RCV006277669

NM_000059.4(BRCA2):c.6560C>T (p.Pro2187Leu)

SNV
Germline

Chr13:32340915

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Hereditary breast ovarian cancer syndrome
Fanconi anemia complementation group D1
Breast and/or ovarian cancer

Criteria Provided
Conflicting Classifications

CA024168

rs_56019712

16 SubmittersRCV000031634 RCV000129413 RCV000044985 RCV000589601 RCV001081092 RCV001109884 RCV003492317

NM_000059.4(BRCA2):c.6567C>G (p.Asn2189Lys)

SNV
Germline

Chr13:32340922

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA024178

rs_397507374

7 SubmittersRCV000031636 RCV000695101 RCV001566342 RCV002362602

NM_000059.4(BRCA2):c.67+4T>C

SNV
Germline

Chr13:32316531

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA024375

rs_373546450

9 SubmittersRCV000031643 RCV000130680 RCV000228347 RCV001723595

NM_000059.4(BRCA2):c.6739A>G (p.Ser2247Gly)

SNV
Germline

Chr13:32341094

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA024359

rs_80358896

15 SubmittersRCV000031645 RCV000045034 RCV000163090 RCV000587555 RCV001079936 RCV003607207

NM_000059.4(BRCA2):c.682-13A>G

SNV
Germline

Chr13:32330906

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
not specified
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA024454

rs_81002888

10 SubmittersRCV000031650 RCV000045062 RCV000608940 RCV001188330 RCV005357211

NM_000059.4(BRCA2):c.688A>T (p.Lys230Ter)

SNV
Germline

Chr13:32330925

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Familial cancer of breast
Condition: not provided

Reviewed By Expert Panel

CA024542

rs_80358913

10 SubmittersRCV000031654 RCV000221860 RCV000496274 RCV003473206 RCV006277671

NM_000059.4(BRCA2):c.6952C>T (p.Arg2318Ter)

SNV
Germline/somatic

Chr13:32346841

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Breast neoplasm
Condition: not provided
Hereditary cancer-predisposing syndrome
Ovarian neoplasm
8 conditions
Familial cancer of breast
Gastric cancer
BRCA2-related disorder
Inherited breast cancer and ovarian cancer
Inherited ovarian cancer (without breast cancer)

Reviewed By Expert Panel

CA024619

rs_80358920

38 SubmittersRCV000031658 RCV000045095 RCV000240678 RCV000212256 RCV000569398 RCV000785228 RCV000763325 RCV001262534 RCV003162279 RCV003483441 RCV006454642 RCV006454643

NM_000059.4(BRCA2):c.7007G>A (p.Arg2336His)

SNV
Germline/somatic

Chr13:32346896

Pathogenic

Fanconi anemia complementation group D1
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Breast and/or ovarian cancer
8 conditions
BRCA2-related disorder
Inherited breast cancer and ovarian cancer
Neoplasm

Reviewed By Expert Panel

CA024713

rs_28897743

42 SubmittersRCV000009923 RCV000031659 RCV000045112 RCV000131031 RCV000174440 RCV000475925 RCV000735595 RCV002496486 RCV004732575 RCV005237444 RCV006273071

NM_000059.4(BRCA2):c.7096C>G (p.Leu2366Val)

SNV
Germline

Chr13:32354949

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
not specified
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA024864

rs_80358941

12 SubmittersRCV000031665 RCV000164923 RCV000225749 RCV000679185 RCV002265572 RCV004803064

NM_000059.4(BRCA2):c.7102T>G (p.Leu2368Val)

SNV
Germline

Chr13:32354955

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Malignant tumor of breast
Familial cancer of breast
Breast and/or ovarian cancer
BRCA2-related disorder

Criteria Provided
Conflicting Classifications

CA024871

rs_397507382

14 SubmittersRCV000031666 RCV000206651 RCV000132508 RCV000445338 RCV001711136 RCV001353652 RCV002250491 RCV003492318 RCV004532455

NM_000059.4(BRCA2):c.7133C>G (p.Ser2378Ter)

SNV
Germline

Chr13:32354986

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Rhabdomyosarcoma
Familial cancer of breast

Reviewed By Expert Panel

CA024895

rs_276174889

12 SubmittersRCV000031667 RCV000045148 RCV000216056 RCV000478738 RCV001257550 RCV003460526

NM_000059.4(BRCA2):c.7258G>T (p.Glu2420Ter)

SNV
Germline

Chr13:32355111

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA025002

rs_397507385

5 SubmittersRCV000031671 RCV000045178 RCV000221529

NM_000059.4(BRCA2):c.7435+6G>A

SNV
Germline

Chr13:32355294

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Breast and/or ovarian cancer
BRCA2-related disorder
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA025080

rs_81002852

29 SubmittersRCV000031678 RCV000167780 RCV000210777 RCV000168598 RCV000679187 RCV000768633 RCV004528144 RCV005411302

NM_000059.4(BRCA2):c.7436-4A>G

SNV
Germline

Chr13:32356424

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified
Breast and/or ovarian cancer
Hereditary breast ovarian cancer syndrome
Condition: not provided
BRCA2-related disorder
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA025086

rs_81002904

16 SubmittersRCV000031679 RCV000164776 RCV000168599 RCV000768634 RCV001084165 RCV001353462 RCV004532456 RCV004803065

NM_000059.4(BRCA2):c.7466A>G (p.Asp2489Gly)

SNV
Germline

Chr13:32356458

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Hereditary breast ovarian cancer syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA025100

rs_80358970

13 SubmittersRCV000031680 RCV000131769 RCV000212259 RCV001171393 RCV001300377 RCV004566777

NM_000059.4(BRCA2):c.7480C>T (p.Arg2494Ter)

SNV
Germline

Chr13:32356472

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Carcinoma of pancreas
Gastric cancer
Familial cancer of breast
8 conditions
BRCA2-related disorder
Sarcoma
BRCA2-related cancer predisposition
Inherited breast cancer and ovarian cancer

Reviewed By Expert Panel

CA025108

rs_80358972

38 SubmittersRCV000031681 RCV000045227 RCV000131084 RCV000225750 RCV001391218 RCV003162280 RCV003460528 RCV002477038 RCV004732576 RCV005888836 RCV004803066 RCV006272129

NM_000059.4(BRCA2):c.7499G>C (p.Arg2500Thr)

SNV
Germline

Chr13:32356491

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
not specified
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 1
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA025119

rs_80358976

10 SubmittersRCV000031682 RCV000045232 RCV000129357 RCV000203647 RCV001719711 RCV004584598 RCV004803067

NM_000059.4(BRCA2):c.7565C>T (p.Ser2522Phe)

SNV
Germline

Chr13:32356557

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Chordoma
Inherited prostate cancer
not specified

Criteria Provided
Conflicting Classifications

CA025154

rs_80358985

11 SubmittersRCV000031686 RCV000045249 RCV000162600 RCV000587666 RCV002266908 RCV005237446 RCV006451906

NM_000059.4(BRCA2):c.7594C>T (p.Pro2532Ser)

SNV
Germline

Chr13:32356586

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA025167

rs_397507388

5 SubmittersRCV000031689 RCV000222549 RCV001224548 RCV003460529

NM_000059.4(BRCA2):c.7598C>G (p.Ser2533Cys)

SNV
Germline

Chr13:32356590

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 2
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA025173

rs_80358987

10 SubmittersRCV000031690 RCV000045255 RCV000130650 RCV000214587 RCV001194022 RCV005357213 RCV004803070

NM_000059.4(BRCA2):c.7601C>T (p.Ala2534Val)

SNV
Germline

Chr13:32356593

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
not specified
BRCA2-related disorder

Criteria Provided
Conflicting Classifications

CA025174

rs_74047012

16 SubmittersRCV000031691 RCV000220233 RCV000590175 RCV001085066 RCV002267807 RCV004541047

NM_000059.4(BRCA2):c.7618-1G>A

SNV
Germline

Chr13:32357741

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Familial cancer of breast
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
8 conditions

Reviewed By Expert Panel

CA025188

rs_397507389

19 SubmittersRCV000031692 RCV000045265 RCV000131688 RCV000195358 RCV000474278 RCV001171446 RCV005007916

NM_000059.4(BRCA2):c.7618C>A (p.Leu2540Met)

SNV
Germline

Chr13:32357742

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
Familial cancer of breast
BRCA2-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA025194

rs_397507390

9 SubmittersRCV000031693 RCV000166080 RCV000545892 RCV002265573 RCV003473211 RCV004532457 RCV004998122

NM_000059.4(BRCA2):c.7643A>G (p.His2548Arg)

SNV
Germline

Chr13:32357767

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
BRCA2-related disorder
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA025208

rs_80358992

12 SubmittersRCV000031694 RCV000045275 RCV000129573 RCV001193722 RCV004719666 RCV004732578 RCV004566778

NM_000059.4(BRCA2):c.7758G>A (p.Trp2586Ter)

SNV
Germline/somatic

Chr13:32357882

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Malignant tumor of urinary bladder
Familial cancer of breast

Reviewed By Expert Panel

CA025260

rs_80359004

20 SubmittersRCV000031698 RCV000255811 RCV000496860 RCV000569377 RCV003332090 RCV004566779

NM_000059.4(BRCA2):c.784G>A (p.Ala262Thr)

SNV
Germline

Chr13:32331021

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
Condition: not provided
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA025308

rs_397507393

7 SubmittersRCV000031703 RCV000216411 RCV000230620 RCV002281725 RCV003476911 RCV004803072

NM_000059.4(BRCA2):c.7857G>A (p.Trp2619Ter)

SNV
Germline

Chr13:32362574

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Rhabdomyosarcoma
Malignant tumor of breast
Familial cancer of breast

Reviewed By Expert Panel

CA025311

rs_80359011

17 SubmittersRCV000031704 RCV000162936 RCV000496960 RCV000521372 RCV001257551 RCV001353730 RCV003473212

NM_000059.4(BRCA2):c.7868A>G (p.His2623Arg)

SNV
Germline

Chr13:32362585

Pathogenic/Likely pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Malignant tumor of breast
Familial cancer of breast
BRCA2-related cancer predisposition

Criteria Provided
Multiple Submitters
No Conflicts

CA025314

rs_80359012

17 SubmittersRCV000031705 RCV000045333 RCV000131271 RCV000480661 RCV000505960 RCV001353877 RCV003322593 RCV004803073

NM_000059.4(BRCA2):c.7878G>A (p.Trp2626Ter)

SNV
Germline/somatic

Chr13:32362595

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Malignant tumor of breast
Familial cancer of breast
BRCA2-related disorder

Reviewed By Expert Panel

CA025318

rs_80359013

16 SubmittersRCV000031706 RCV000045335 RCV000237084 RCV000217125 RCV001353668 RCV003473213 RCV004528145

NM_000059.4(BRCA2):c.7878G>C (p.Trp2626Cys)

SNV
Germline

Chr13:32362595

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Breast and/or ovarian cancer
Malignant tumor of breast
Familial cancer of breast
8 conditions
Uterine corpus cancer
BRCA2-related cancer predisposition
Breast-ovarian cancer, familial, susceptibility to, 1

Reviewed By Expert Panel

CA025319

rs_80359013

34 SubmittersRCV000031707 RCV000045336 RCV000163025 RCV000482471 RCV001271059 RCV001357728 RCV002288525 RCV002504846 RCV003128132 RCV004803074 RCV004783730

NM_000059.4(BRCA2):c.7963C>T (p.Gln2655Ter)

SNV
Germline

Chr13:32362680

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA025356

rs_397507395

6 SubmittersRCV000031710 RCV001178396 RCV003529926

NM_000059.4(BRCA2):c.7974C>G (p.Tyr2658Ter)

SNV
Germline

Chr13:32362691

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA025361

rs_80359025

11 SubmittersRCV000031711 RCV001723596 RCV002514125 RCV004018694

NM_000059.4(BRCA2):c.7975A>G (p.Arg2659Gly)

SNV
Germline

Chr13:32362692

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Familial cancer of breast

Reviewed By Expert Panel

CA025362

rs_80359026

15 SubmittersRCV000031712 RCV000572654 RCV001268917 RCV001325838 RCV002247404

NM_000059.4(BRCA2):c.7976G>A (p.Arg2659Lys)

SNV
Germline

Chr13:32362693

Pathogenic/Likely pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Ovarian neoplasm
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Malignant tumor of breast
Familial cancer of breast
BRCA2-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA025368

rs_80359027

31 SubmittersRCV000031713 RCV000045366 RCV000131687 RCV000212266 RCV000785230 RCV001171449 RCV001358381 RCV003473214 RCV004541048

NM_000059.4(BRCA2):c.7977-1G>C

SNV
Germline

Chr13:32363178

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Fanconi anemia complementation group D1
Hereditary breast ovarian cancer syndrome
Familial cancer of breast
BRCA2-related cancer predisposition
Familial prostate cancer
Inherited breast cancer and ovarian cancer

Reviewed By Expert Panel

CA025372

rs_81002874

24 SubmittersRCV000031714 RCV000045368 RCV000162588 RCV000486971 RCV003483442 RCV003473215 RCV004566780 RCV005357214 RCV006436406

NM_000059.4(BRCA2):c.8063T>C (p.Leu2688Pro)

SNV
Germline

Chr13:32363265

Pathogenic/Likely pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
BRCA2-related cancer predisposition

Criteria Provided
Multiple Submitters
No Conflicts

CA025432

rs_80359045

10 SubmittersRCV000031719 RCV000045408 RCV000219486 RCV000505844 RCV004803075

NM_000059.4(BRCA2):c.8092G>A (p.Ala2698Thr)

SNV
Germline

Chr13:32363294

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
not specified
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Malignant tumor of breast
Familial cancer of breast
Inherited breast cancer and ovarian cancer
Primary familial hypertrophic cardiomyopathy

Criteria Provided
Conflicting Classifications

CA025451

rs_80359052

21 SubmittersRCV000031720 RCV000074554 RCV000129982 RCV000531554 RCV000755863 RCV001354237 RCV003607208 RCV004584180 RCV006250163

NM_000059.4(BRCA2):c.8117A>G (p.Asn2706Ser)

SNV
Germline

Chr13:32363319

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Hereditary breast ovarian cancer syndrome
Chordoma
Breast and/or ovarian cancer
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA025459

rs_80359055

17 SubmittersRCV000031721 RCV000164845 RCV000424555 RCV000588306 RCV001086095 RCV002266909 RCV001798053 RCV005357215

NM_000059.4(BRCA2):c.8153T>C (p.Ile2718Thr)

SNV
Germline

Chr13:32363355

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA025473

rs_80359060

11 SubmittersRCV000031722 RCV000045432 RCV000583191 RCV002305440 RCV004803076

NM_000059.4(BRCA2):c.8168A>G (p.Asp2723Gly)

SNV
Germline

Chr13:32363370

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Breast and/or ovarian cancer
Gastric cancer
Familial cancer of breast
8 conditions
Breast-ovarian cancer, familial, susceptibility to, 2
Familial cancer of breast

Reviewed By Expert Panel

CA025484

rs_41293513

19 SubmittersRCV000031724 RCV000131682 RCV000216099 RCV000781040 RCV001271062 RCV003162282 RCV003460531 RCV005007918 RCV005357216

NM_000059.4(BRCA2):c.825A>T (p.Lys275Asn)

SNV
Germline

Chr13:32332303

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
not specified
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA025544

rs_397507399

11 SubmittersRCV000031730 RCV000131188 RCV000257932 RCV001283942 RCV001797593 RCV004803077

NM_000059.4(BRCA2):c.8309C>A (p.Ala2770Asp)

SNV
Germline

Chr13:32363511

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
not specified
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA025562

rs_28897750

11 SubmittersRCV000031734 RCV000130809 RCV000218650 RCV000637597 RCV001192649 RCV004803078

NM_000059.4(BRCA2):c.8331+1G>A

SNV
Germline

Chr13:32363534

Pathogenic/Likely pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Familial cancer of breast
8 conditions
Inherited breast cancer and ovarian cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA025578

rs_81002837

13 SubmittersRCV000031737 RCV000166511 RCV000212272 RCV001390937 RCV002250494 RCV004795942 RCV006272130

NM_000059.4(BRCA2):c.8350C>T (p.Arg2784Trp)

SNV
Germline

Chr13:32370420

Pathogenic/Likely pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Chordoma
Breast and/or ovarian cancer
Familial cancer of breast
BRCA2-related disorder
8 conditions
BRCA2-related cancer predisposition

Criteria Provided
Multiple Submitters
No Conflicts

CA025593

rs_80359075

29 SubmittersRCV000031738 RCV000045487 RCV000131691 RCV000392114 RCV001267731 RCV002266910 RCV003149602 RCV003473218 RCV004532460 RCV004795943 RCV005357218

NM_000059.4(BRCA2):c.8360G>A (p.Arg2787His)

SNV
Germline/somatic

Chr13:32370430

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome
BRCA2-related cancer predisposition
Hereditary cancer

Criteria Provided
Conflicting Classifications

CA025601

rs_80359078

15 SubmittersRCV000031739 RCV000212273 RCV000214554 RCV001174961 RCV001442600 RCV004803079 RCV005234817

NM_000059.4(BRCA2):c.8378G>A (p.Gly2793Glu)

SNV
Germline

Chr13:32370448

Pathogenic/Likely pathogenic

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA025614

rs_80359083

14 SubmittersRCV000045500 RCV000031740 RCV000165807 RCV000679191 RCV003473219

NM_000059.4(BRCA2):c.8378G>T (p.Gly2793Val)

SNV
Germline

Chr13:32370448

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA025615

rs_80359083

8 SubmittersRCV000031741 RCV000569751 RCV003993754

NM_000059.4(BRCA2):c.8464A>T (p.Ile2822Phe)

SNV
Germline

Chr13:32370534

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA025658

rs_397507403

4 SubmittersRCV000031743 RCV000222998 RCV001852626 RCV005357220

NM_000059.4(BRCA2):c.8486A>G (p.Gln2829Arg)

SNV
Germline

Chr13:32370556

Pathogenic/Likely pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast and/or ovarian cancer
Condition: not provided
BRCA2-related cancer predisposition

Criteria Provided
Multiple Submitters
No Conflicts

CA025666

rs_80359100

15 SubmittersRCV000031744 RCV000510027 RCV000590582 RCV001170976 RCV001284445 RCV004803080

NM_000059.4(BRCA2):c.8487+1G>T

SNV
Germline

Chr13:32370558

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA025671

rs_81002798

4 SubmittersRCV000031745 RCV000694757 RCV002444449

NM_000059.4(BRCA2):c.8488-1G>A

SNV
Germline

Chr13:32370955

Pathogenic

Fanconi anemia complementation group D1
Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
8 conditions
BRCA2-related disorder
Gastric cancer
Familial cancer of breast
BRCA2-related cancer predisposition
Inherited breast cancer and ovarian cancer

Reviewed By Expert Panel

CA025677

rs_397507404

29 SubmittersRCV000009920 RCV000031747 RCV000160152 RCV000231355 RCV000213906 RCV000763329 RCV002221480 RCV003162283 RCV003473221 RCV004803081 RCV006261944

NM_000059.4(BRCA2):c.8567A>C (p.Glu2856Ala)

SNV
Germline

Chr13:32371035

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
not specified
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Fanconi anemia complementation group D1
Breast and/or ovarian cancer
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA025712

rs_11571747

39 SubmittersRCV000031751 RCV000034464 RCV000152885 RCV000131022 RCV000167825 RCV000371112 RCV000735613 RCV004803082

NM_000059.4(BRCA2):c.8593T>G (p.Leu2865Val)

SNV
Germline

Chr13:32371061

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA025727

rs_80359117

6 SubmittersRCV000031754 RCV000574991 RCV001321925 RCV001551308

NM_000059.4(BRCA2):c.8633-2A>G

SNV
Germline

Chr13:32376668

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA025749

rs_81002886

8 SubmittersRCV000031755 RCV002371796 RCV006461238

NM_000059.4(BRCA2):c.8633-4T>A

SNV
Germline

Chr13:32376666

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
Malignant tumor of breast
Condition: not provided
Hereditary cancer

Criteria Provided
Conflicting Classifications

CA025751

rs_397507407

11 SubmittersRCV000031756 RCV000132191 RCV000122935 RCV000442944 RCV001353567 RCV003237417 RCV005600624

NM_000059.4(BRCA2):c.8647C>T (p.Pro2883Ser)

SNV
Germline

Chr13:32376684

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
not specified
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA025759

rs_80359122

13 SubmittersRCV000031758 RCV000045590 RCV000417546 RCV000567301 RCV001703441

NM_000059.4(BRCA2):c.865A>G (p.Asn289Asp)

SNV
Germline

Chr13:32332343

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Breast and/or ovarian cancer
not specified

Criteria Provided
Conflicting Classifications

CA025766

rs_766173

17 SubmittersRCV000031759 RCV000045592 RCV000164485 RCV000589996 RCV001798054 RCV003488352

NM_000059.4(BRCA2):c.8677C>T (p.Gln2893Ter)

SNV
Germline

Chr13:32376714

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
8 conditions
Familial cancer of breast

Reviewed By Expert Panel

CA025776

rs_397507409

15 SubmittersRCV000031760 RCV000045600 RCV000413575 RCV001018169 RCV002482934 RCV003448249

NM_000059.4(BRCA2):c.8695C>T (p.Gln2899Ter)

SNV
Germline

Chr13:32376732

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Familial cancer of breast
Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome
Condition: not provided
BRCA2-related disorder

Reviewed By Expert Panel

CA025783

rs_397507411

14 SubmittersRCV000031762 RCV000045603 RCV000566353 RCV000506732 RCV000779984 RCV001269805 RCV005222711

NM_000059.4(BRCA2):c.8754+5G>A

SNV
Germline

Chr13:32376796

Pathogenic/Likely pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA025807

rs_81002813

11 SubmittersRCV000031765 RCV000571571 RCV001573455 RCV001852628

NM_000059.4(BRCA2):c.8755-1G>A

SNV
Germline

Chr13:32379316

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Malignant tumor of breast
Carcinoma of pancreas
Condition: not provided
Familial cancer of breast

Reviewed By Expert Panel

CA025812

rs_81002812

26 SubmittersRCV000031766 RCV000131043 RCV000238986 RCV000220836 RCV001310186 RCV001357980 RCV001391220 RCV001529355 RCV003473223

NM_000059.4(BRCA2):c.8755-9T>A

SNV
Germline

Chr13:32379308

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA025815

rs_397507413

3 SubmittersRCV000031767 RCV000811752 RCV001018281

NM_000059.4(BRCA2):c.8755-9T>C

SNV
Germline

Chr13:32379308

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA025816

rs_397507413

6 SubmittersRCV000031768 RCV000766305 RCV000773154 RCV001081949

NM_000059.4(BRCA2):c.8817G>C (p.Lys2939Asn)

SNV
Germline

Chr13:32379379

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
8 conditions
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA025835

rs_397507414

6 SubmittersRCV000031770 RCV000509817 RCV000765142 RCV001852629

NM_000059.4(BRCA2):c.8866G>C (p.Glu2956Gln)

SNV
Germline

Chr13:32379428

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA025854

rs_142040996

10 SubmittersRCV000031771 RCV000220440 RCV000589427 RCV000690405 RCV004566782

NM_000059.4(BRCA2):c.8867A>C (p.Glu2956Ala)

SNV
Germline

Chr13:32379429

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
Condition: not provided
BRCA2-related disorder

Criteria Provided
Conflicting Classifications

CA025855

rs_151174152

13 SubmittersRCV000031772 RCV000130252 RCV000476614 RCV000781140 RCV000985609 RCV004532462

NM_000059.4(BRCA2):c.8869C>T (p.Gln2957Ter)

SNV
Germline

Chr13:32379431

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast and/or ovarian cancer
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 2

Reviewed By Expert Panel

CA025856

rs_276174913

11 SubmittersRCV000031773 RCV001018424 RCV001174641 RCV001798055 RCV005364902

NM_000059.4(BRCA2):c.887A>G (p.Tyr296Cys)

SNV
Germline

Chr13:32332365

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Hereditary breast ovarian cancer syndrome
Cholangiocarcinoma
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA025860

rs_45457795

14 SubmittersRCV000031774 RCV000129101 RCV000168545 RCV000588297 RCV001086214 RCV005888837 RCV005364903

NM_000059.4(BRCA2):c.8918G>A (p.Arg2973His)

SNV
Germline

Chr13:32379480

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Neuroblastoma
Breast and/or ovarian cancer
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA025874

rs_80359143

17 SubmittersRCV000031777 RCV000128971 RCV000587937 RCV000505714 RCV000761134 RCV000770734 RCV001082957 RCV005357222

NM_000059.4(BRCA2):c.8951C>G (p.Ser2984Ter)

SNV
Germline

Chr13:32379513

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA025886

rs_80359146

7 SubmittersRCV000114019 RCV000496423 RCV002371797

NM_000059.4(BRCA2):c.8953+1G>T

SNV
Germline

Chr13:32379516

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Familial cancer of breast
Thyroid cancer, nonmedullary, 1

Reviewed By Expert Panel

CA025890

rs_81002882

20 SubmittersRCV000031781 RCV000131051 RCV000213611 RCV000254648 RCV003473224 RCV005888838

NM_000059.4(BRCA2):c.9004G>A (p.Glu3002Lys)

SNV
Germline

Chr13:32379800

Pathogenic/Likely pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast and/or ovarian cancer
Malignant tumor of breast
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA025920

rs_80359152

24 SubmittersRCV000031784 RCV000045685 RCV000130642 RCV000195385 RCV000735616 RCV001353997 RCV002247405

NM_000059.4(BRCA2):c.9016T>G (p.Tyr3006Asp)

SNV
Germline

Chr13:32379812

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Familial cancer of breast
BRCA2-related cancer predisposition

Reviewed By Expert Panel

CA025928

rs_397507416

9 SubmittersRCV000031785 RCV000132244 RCV000465067 RCV001775545 RCV004566783 RCV006276055

NM_000059.4(BRCA2):c.9019A>G (p.Arg3007Gly)

SNV
Germline

Chr13:32379815

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
not specified
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast and/or ovarian cancer
Condition: not provided
Malignant tumor of breast
BRCA2-related disorder

Criteria Provided
Conflicting Classifications

CA025931

rs_397507417

12 SubmittersRCV000031786 RCV000160163 RCV000167398 RCV000167961 RCV000735617 RCV000766653 RCV001353884 RCV004532463

NM_000059.4(BRCA2):c.9076C>T (p.Gln3026Ter)

SNV
Germline

Chr13:32379872

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Breast and/or ovarian cancer
Malignant tumor of breast
Gastric cancer
Familial cancer of breast
BRCA2-related disorder

Reviewed By Expert Panel

CA025962

rs_80359159

22 SubmittersRCV000031790 RCV000045706 RCV000131038 RCV000413921 RCV000735618 RCV001353572 RCV003162284 RCV003473225 RCV004532464

NM_000059.4(BRCA2):c.9101A>G (p.Gln3034Arg)

SNV
Germline

Chr13:32379897

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Malignant tumor of breast
Condition: not provided
not specified
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA025979

rs_80359164

11 SubmittersRCV000031793 RCV000045716 RCV000132242 RCV000481121 RCV000657016 RCV001375581 RCV004566784

NM_000059.4(BRCA2):c.9104A>C (p.Tyr3035Ser)

SNV
Germline

Chr13:32379900

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Breast and/or ovarian cancer
Malignant tumor of breast
BRCA2-related disorder
Inherited breast cancer and ovarian cancer
Pilocytic astrocytoma

Criteria Provided
Conflicting Classifications

CA025980

rs_80359165

23 SubmittersRCV000031794 RCV000045717 RCV000130861 RCV000120368 RCV000589726 RCV000735620 RCV001353989 RCV004732581 RCV005430470 RCV006454644

NM_000059.4(BRCA2):c.9106C>G (p.Gln3036Glu)

SNV
Germline

Chr13:32379902

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Fanconi anemia complementation group D1
not specified
Familial cancer of breast
Familial pancreatic carcinoma

Criteria Provided
Conflicting Classifications

CA025983

rs_202155613

13 SubmittersRCV000031795 RCV000074559 RCV000223314 RCV000289162 RCV000344086 RCV002271381 RCV002250496 RCV005357224

NM_000059.4(BRCA2):c.9116C>G (p.Pro3039Arg)

SNV
Germline

Chr13:32379912

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Breast and/or ovarian cancer

Criteria Provided
Conflicting Classifications

CA025987

rs_80359167

9 SubmittersRCV000031796 RCV000130896 RCV000213291 RCV000707640 RCV003492320

NM_000059.4(BRCA2):c.9117G>A (p.Pro3039=)

SNV
Germline

Chr13:32379913

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
9 conditions
8 conditions
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Breast carcinoma
Familial cancer of breast
Gastric cancer
BRCA2-related cancer predisposition
Hereditary breast ovarian cancer syndrome
Fanconi anemia complementation group D1

Reviewed By Expert Panel

CA025994

rs_28897756

37 SubmittersRCV000031798 RCV000045725 RCV000074560 RCV000131039 RCV000515207 RCV000763330 RCV001310189 RCV001171453 RCV001554310 RCV003473227 RCV003162286 RCV004566785 RCV005624714

NM_000059.4(BRCA2):c.9118-6C>T

SNV
Germline

Chr13:32380001

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
not specified
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA025997

rs_81002890

7 SubmittersRCV000031799 RCV000439624 RCV001423115 RCV004998123

NM_000059.4(BRCA2):c.9155G>A (p.Arg3052Gln)

SNV
Germline/somatic

Chr13:32380044

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Breast and/or ovarian cancer
Hereditary breast ovarian cancer syndrome
BRCA2-related disorder
Malignant tumor of urinary bladder

Criteria Provided
Conflicting Classifications

CA026007

rs_80359171

12 SubmittersRCV000031800 RCV000045733 RCV000131685 RCV000768640 RCV001086321 RCV004532466 RCV003332091

NM_000059.4(BRCA2):c.9177A>C (p.Lys3059Asn)

SNV
Germline

Chr13:32380066

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome
Condition: not provided
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA026017

rs_201561974

10 SubmittersRCV000031801 RCV000166162 RCV000779930 RCV000807864 RCV001588837 RCV004566786

NM_000059.4(BRCA2):c.9195T>A (p.Phe3065Leu)

SNV
Germline

Chr13:32380084

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA026026

rs_80359179

4 SubmittersRCV000031802 RCV000709339 RCV002371798

NM_000059.4(BRCA2):c.9242T>C (p.Val3081Ala)

SNV
Germline

Chr13:32380131

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
not specified
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
BRCA2-related disorder
Familial prostate cancer

Criteria Provided
Conflicting Classifications

CA026046

rs_80359189

16 SubmittersRCV000031805 RCV000045755 RCV000129976 RCV000203623 RCV001284113 RCV004732582 RCV005357225

NM_000059.4(BRCA2):c.9253A>C (p.Thr3085Pro)

SNV
Germline

Chr13:32380142

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
not specified
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
BRCA2-related disorder

Criteria Provided
Conflicting Classifications

CA026053

rs_397507423

11 SubmittersRCV000031807 RCV000439515 RCV000509957 RCV000557691 RCV000587457 RCV004532468

NM_000059.4(BRCA2):c.9294C>A (p.Tyr3098Ter)

SNV
Germline

Chr13:32394726

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA026093

rs_80359200

10 SubmittersRCV000031811 RCV000496360 RCV002371799

NM_000059.4(BRCA2):c.9294C>G (p.Tyr3098Ter)

SNV
Germline

Chr13:32394726

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Familial cancer of breast
8 conditions
BRCA2-related cancer predisposition
Inherited breast cancer and ovarian cancer

Reviewed By Expert Panel

CA026094

rs_80359200

28 SubmittersRCV000031812 RCV000074562 RCV000045784 RCV000131041 RCV000210096 RCV000465472 RCV000763331 RCV004803089 RCV006277674

NM_000059.4(BRCA2):c.9302T>G (p.Leu3101Arg)

SNV
Germline

Chr13:32394734

Pathogenic/Likely pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Breast and/or ovarian cancer
Familial cancer of breast
Inherited breast cancer and ovarian cancer
NICE approved PARP inhibitor treatment
BRCA2-related cancer predisposition

Criteria Provided
Multiple Submitters
No Conflicts

CA026098

rs_28897758

16 SubmittersRCV000031813 RCV000045787 RCV000162632 RCV000657062 RCV001798057 RCV003473230 RCV004691728 RCV004584181 RCV004803090

NM_000059.4(BRCA2):c.9320T>C (p.Ile3107Thr)

SNV
Germline

Chr13:32394752

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified

Criteria Provided
Conflicting Classifications

CA026104

rs_397507425

5 SubmittersRCV000031814 RCV000164259 RCV001202106 RCV005237447

NM_000059.4(BRCA2):c.9353T>C (p.Met3118Thr)

SNV
Germline

Chr13:32394785

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast neoplasm
not specified
Condition: not provided
BRCA2-related disorder

Criteria Provided
Conflicting Classifications

CA026112

rs_56204128

14 SubmittersRCV000031815 RCV000045797 RCV000131368 RCV000148437 RCV000484041 RCV001508342 RCV004541053

NM_000059.4(BRCA2):c.9371A>T (p.Asn3124Ile)

SNV
Germline

Chr13:32394803

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Breast and/or ovarian cancer
Malignant tumor of breast
Breast-ovarian cancer, familial, susceptibility to, 1
BRCA2-related cancer predisposition

Reviewed By Expert Panel

CA026119

rs_28897759

42 SubmittersRCV000031816 RCV000045802 RCV000130337 RCV000505786 RCV000585706 RCV001271066 RCV001353921 RCV001310163 RCV004803091

NM_000059.4(BRCA2):c.9380G>A (p.Trp3127Ter)

SNV
Germline

Chr13:32394812

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Malignant tumor of breast
Breast and/or ovarian cancer
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 1

Reviewed By Expert Panel

CA026126

rs_80359211

20 SubmittersRCV000031818 RCV000131047 RCV000485069 RCV000781092 RCV001355462 RCV001798058 RCV003473232 RCV006612201

NM_000059.4(BRCA2):c.9383G>A (p.Arg3128Gln)

SNV
Germline

Chr13:32394815

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Malignant tumor of breast
Hereditary breast ovarian cancer syndrome
Condition: not provided
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA026128

rs_397507427

7 SubmittersRCV000031819 RCV000130023 RCV000500827 RCV000705810 RCV000985626 RCV004803093

NM_000059.4(BRCA2):c.9385C>T (p.Pro3129Ser)

SNV
Germline

Chr13:32394817

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA026131

rs_80359213

5 SubmittersRCV000031820 RCV000773159 RCV000823907 RCV004803094

NM_000059.4(BRCA2):c.938C>T (p.Ser313Phe)

SNV
Germline

Chr13:32332416

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA026132

rs_397507428

11 SubmittersRCV000031821 RCV000129312 RCV000467684 RCV001251312 RCV003234932

NM_000059.4(BRCA2):c.9523G>T (p.Glu3175Ter)

SNV
Germline

Chr13:32396919

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
BRCA2-related disorder

Reviewed By Expert Panel

CA026199

rs_397507430

8 SubmittersRCV000031829 RCV000496351 RCV002371800 RCV003483443

NM_000059.4(BRCA2):c.956A>C (p.Asn319Thr)

SNV
Germline

Chr13:32332434

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
not specified
Hereditary cancer-predisposing syndrome
Breast and/or ovarian cancer
Condition: not provided
Fanconi anemia complementation group D1
Hereditary breast ovarian cancer syndrome
Malignant tumor of breast
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA026214

rs_55939572

20 SubmittersRCV000031831 RCV000045855 RCV000162692 RCV000735629 RCV000758980 RCV001109312 RCV001083417 RCV001357124 RCV004803095

NM_000059.4(BRCA2):c.9581C>A (p.Pro3194Gln)

SNV
Germline

Chr13:32396977

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
BRCA2-related disorder
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA026221

rs_28897760

13 SubmittersRCV000031833 RCV000045860 RCV000131306 RCV000160173 RCV001719713 RCV004532471 RCV004803096

NM_000059.4(BRCA2):c.9586A>G (p.Lys3196Glu)

SNV
Germline

Chr13:32396982

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
not specified
Hereditary cancer-predisposing syndrome
Breast neoplasm
Condition: not provided
Breast and/or ovarian cancer
Hereditary breast ovarian cancer syndrome
Malignant tumor of breast

Criteria Provided
Conflicting Classifications

CA026224

rs_80359228

21 SubmittersRCV000031834 RCV000045862 RCV000129724 RCV000148420 RCV000586984 RCV000735631 RCV001080657 RCV001269375

NM_000059.4(BRCA2):c.9599C>G (p.Ser3200Ter)

SNV
Germline

Chr13:32396995

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast
8 conditions
Inherited ovarian cancer (without breast cancer)
Inherited breast cancer and ovarian cancer

Reviewed By Expert Panel

CA026227

rs_80359230

13 SubmittersRCV000031836 RCV000519756 RCV000496835 RCV001019520 RCV003473235 RCV004795944 RCV005237449 RCV005237448

NM_000059.4(BRCA2):c.9616C>G (p.Gln3206Glu)

SNV
Germline

Chr13:32397012

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA026236

rs_80359233

10 SubmittersRCV000031838 RCV000045868 RCV000217224 RCV001582503 RCV004566788

NM_000059.4(BRCA2):c.971G>C (p.Arg324Thr)

SNV
Germline

Chr13:32332449

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
not specified
BRCA2-related disorder

Criteria Provided
Conflicting Classifications

CA026281

rs_397507435

13 SubmittersRCV000031844 RCV000130515 RCV000457938 RCV000985254 RCV001193321 RCV004532472

NM_000059.4(BRCA2):c.9728C>T (p.Pro3243Leu)

SNV
Germline

Chr13:32398241

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
not specified
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast and/or ovarian cancer
Malignant tumor of breast
BRCA2-related disorder

Criteria Provided
Conflicting Classifications

CA026285

rs_80359241

17 SubmittersRCV000031845 RCV000045892 RCV000166251 RCV000167844 RCV000587179 RCV000735633 RCV001353590 RCV004532473

NM_000059.4(BRCA2):c.9934A>G (p.Ile3312Val)

SNV
Germline

Chr13:32398447

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
BRCA2-related disorder
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA026337

rs_80359254

12 SubmittersRCV000031848 RCV000482595 RCV000573263 RCV001315624 RCV001264611 RCV004732583 RCV005357227

NM_000051.4(ATM):c.6200C>A (p.Ala2067Asp)

SNV
Germline

Chr11:108317374

Pathogenic/Likely pathogenic

Ataxia - telangiectasia variant
Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast
Ataxia-telangiectasia syndrome
Condition: not provided
Malignant tumor of breast
Familial cancer of breast
Breast and/or ovarian cancer
Hereditary breast ovarian cancer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA130514

rs_397514577

19 SubmittersRCV000032965 RCV000166627 RCV000258124 RCV000762825 RCV001268054 RCV001356731 RCV001762078 RCV003492323 RCV004760349

NM_000059.4(BRCA2):c.1022G>T (p.Cys341Phe)

SNV
Germline

Chr13:32332500

Conflicting classifications of pathogenicity

Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA010516

rs_80358403

11 SubmittersRCV000034425 RCV000083084 RCV000164099 RCV001089032

NM_000059.4(BRCA2):c.3562A>G (p.Ile1188Val)

SNV
Germline

Chr13:32337917

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
not specified

Criteria Provided
Conflicting Classifications

CA018345

rs_202230438

9 SubmittersRCV000034438 RCV000132042 RCV000465606 RCV003996168 RCV004562224

NM_000059.4(BRCA2):c.5554G>T (p.Val1852Phe)

SNV
Germline

Chr13:32339909

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA022551

rs_80358777

4 SubmittersRCV000034448 RCV001304476 RCV002345269

NM_000059.4(BRCA2):c.6325G>A (p.Val2109Ile)

SNV
Germline

Chr13:32340680

Conflicting classifications of pathogenicity

Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast neoplasm
Fanconi anemia complementation group D1
Malignant tumor of pancreas
Malignant tumor of breast
not specified
Familial cancer of breast
BRCA2-related disorder

Criteria Provided
Conflicting Classifications

CA023912

rs_79456940

20 SubmittersRCV000034454 RCV000113573 RCV000129753 RCV000195307 RCV000240685 RCV000406166 RCV000677821 RCV001353658 RCV001818210 RCV002250503 RCV004541066

NM_000059.4(BRCA2):c.7504C>T (p.Arg2502Cys)

SNV
Germline

Chr13:32356496

Conflicting classifications of pathogenicity

Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Breast and/or ovarian cancer
Hereditary cancer-predisposing syndrome
not specified
BRCA2-related disorder

Criteria Provided
Conflicting Classifications

CA025120

rs_55716624

25 SubmittersRCV000034459 RCV000077403 RCV000045233 RCV000148436 RCV000131136 RCV000168602 RCV004534718

NM_000059.4(BRCA2):c.8687G>A (p.Arg2896His)

SNV
Germline

Chr13:32376724

Conflicting classifications of pathogenicity

Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome
Malignant tumor of breast

Criteria Provided
Conflicting Classifications

CA025781

rs_80359128

15 SubmittersRCV000034466 RCV000077448 RCV000129089 RCV000418186 RCV001086184 RCV001353522

NM_000059.4(BRCA2):c.8941G>A (p.Glu2981Lys)

SNV
Germline

Chr13:32379503

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA025880

rs_139052578

11 SubmittersRCV000034470 RCV000130691 RCV001364532 RCV003473252 RCV003996169

NM_000251.3(MSH2):c.2425G>A (p.Glu809Lys)

SNV
Germline

Chr2:47478486

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Malignant tumor of breast
Hereditary nonpolyposis colon cancer
MSH2-related disorder

Criteria Provided
Conflicting Classifications

CA020577

rs_202145681

15 SubmittersRCV000034556 RCV000121564 RCV000129519 RCV001030484 RCV001080801 RCV001093691 RCV001356651 RCV001787035 RCV004534720

NM_000546.6(TP53):c.31G>C (p.Glu11Gln)

SNV
Germline

Chr17:7676564

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
not specified
Li-Fraumeni syndrome
Hereditary breast ovarian cancer syndrome
Li-Fraumeni syndrome 1
TP53-related disorder

Criteria Provided
Conflicting Classifications

CA000106

rs_201382018

16 SubmittersRCV000034640 RCV000161016 RCV000213044 RCV000226569 RCV001030742 RCV001124310 RCV003924896

NM_007294.4(BRCA1):c.1849A>G (p.Thr617Ala)

SNV
Germline

Chr17:43093682

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
not specified

Criteria Provided
Conflicting Classifications

CA001205

rs_45564238

10 SubmittersRCV000034729 RCV000130111 RCV000409706 RCV000416510 RCV003226173

NM_007294.4(BRCA1):c.2783G>A (p.Gly928Asp)

SNV
Germline

Chr17:43092748

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA001830

rs_202004680

8 SubmittersRCV000034736 RCV000227370 RCV000221501 RCV003996179

NM_007294.4(BRCA1):c.3962C>G (p.Ser1321Cys)

SNV
Germline

Chr17:43091569

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary breast ovarian cancer syndrome
not specified
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA002536

rs_386833394

5 SubmittersRCV000034746 RCV001324869 RCV001804755 RCV003156731

NM_007294.4(BRCA1):c.4903G>A (p.Glu1635Lys)

SNV
Germline

Chr17:43071011

Conflicting classifications of pathogenicity

Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Breast and/or ovarian cancer
Hereditary breast ovarian cancer syndrome
BRCA1-related disorder

Criteria Provided
Conflicting Classifications

CA003072

rs_200432771

10 SubmittersRCV000034755 RCV000410023 RCV000509803 RCV000769712 RCV001071216 RCV004758618

NM_007294.4(BRCA1):c.5005G>T (p.Ala1669Ser)

SNV
Germline

Chr17:43067677

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Breast and/or ovarian cancer
Breast carcinoma
Hereditary breast ovarian cancer syndrome
Familial cancer of breast
Malignant tumor of breast
Fanconi anemia, complementation group S

Criteria Provided
Conflicting Classifications

CA003152

rs_80357087

24 SubmittersRCV000034757 RCV000048736 RCV000130911 RCV000112461 RCV000148380 RCV000414907 RCV001079653 RCV001197438 RCV001353726 RCV005357258

NM_007294.4(BRCA1):c.5113C>G (p.Leu1705Val)

SNV
Germline

Chr17:43063913

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA003246

rs_80356858

6 SubmittersRCV000034758 RCV000132233 RCV000229512 RCV001076405

NM_000260.4(MYO7A):c.3476G>T (p.Gly1159Val)

SNV
Germline

Chr11:77184688

Pathogenic/Likely pathogenic

Rare genetic deafness
Condition: not provided
Autosomal recessive nonsyndromic hearing loss 2
Retinal dystrophy
Hearing loss
Usher syndrome type 1B
Autosomal recessive nonsyndromic hearing loss 2
Autosomal dominant nonsyndromic hearing loss 11
Usher syndrome type 1
Hereditary breast ovarian cancer syndrome
MYO7A-related disorder
Monogenic hearing loss

Criteria Provided
Multiple Submitters
No Conflicts

CA132291

rs_199897298

18 SubmittersRCV000036110 RCV000312187 RCV000664879 RCV001073977 RCV001270103 RCV001272512 RCV002496550 RCV004541086 RCV004579535 RCV006451768

NM_000059.4(BRCA2):c.10024G>T (p.Glu3342Ter)

SNV
Germline

Chr13:32398537

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA010072

rs_28897761

9 SubmittersRCV000112832 RCV000129731 RCV000422123 RCV000588538 RCV001483406

NM_000059.4(BRCA2):c.10070C>T (p.Thr3357Ile)

SNV
Germline

Chr13:32398583

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA010135

rs_80358388

7 SubmittersRCV000112834 RCV000130535 RCV000212292 RCV000779914 RCV001346739

NM_000059.4(BRCA2):c.10076A>G (p.Glu3359Gly)

SNV
Germline

Chr13:32398589

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA010155

rs_80358389

11 SubmittersRCV000043708 RCV000112835 RCV000222126 RCV000781059 RCV001090323

NM_000059.4(BRCA2):c.10089A>G (p.Ile3363Met)

SNV
Germline

Chr13:32398602

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Malignant tumor of breast

Criteria Provided
Conflicting Classifications

CA010190

rs_80358390

16 SubmittersRCV000043709 RCV000112836 RCV000131377 RCV000425048 RCV000588809 RCV001353943

NM_000059.4(BRCA2):c.100G>T (p.Glu34Ter)

SNV
Germline

Chr13:32319109

Pathogenic

Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
8 conditions
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 2

Reviewed By Expert Panel

CA010238

rs_80358391

18 SubmittersRCV000043711 RCV000113128 RCV000222288 RCV000496610 RCV000657625 RCV000762914 RCV005357284

NM_000059.4(BRCA2):c.10105A>G (p.Thr3369Ala)

SNV
Germline

Chr13:32398618

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
not specified
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA010254

rs_80358392

5 SubmittersRCV000112840 RCV000429325 RCV001852914 RCV005781914 RCV006258945

NM_000059.4(BRCA2):c.10120A>G (p.Thr3374Ala)

SNV
Germline

Chr13:32398633

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
BRCA2-related cancer predisposition
not specified

Criteria Provided
Conflicting Classifications

CA010315

rs_80358395

11 SubmittersRCV000043717 RCV000112843 RCV000166051 RCV001284405 RCV005357285 RCV006456651

NM_000059.4(BRCA2):c.1012G>A (p.Ala338Thr)

SNV
Germline

Chr13:32332490

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Fanconi anemia complementation group D1
not specified

Criteria Provided
Conflicting Classifications

CA010336

rs_80358396

15 SubmittersRCV000043719 RCV000112875 RCV000509731 RCV000759572 RCV001111640 RCV001280581

NM_000059.4(BRCA2):c.10150C>T (p.Arg3384Ter)

SNV
Germline/somatic

Chr13:32398663

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
not specified
Hereditary cancer-predisposing syndrome
Malignant tumor of pancreas
Condition: not provided
Familial cancer of breast
Gastric cancer
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA010347

rs_397507568

15 SubmittersRCV000043720 RCV000112844 RCV000438903 RCV000565885 RCV000677846 RCV001719790 RCV002250507 RCV003162361 RCV004806043

NM_000059.4(BRCA2):c.10151G>A (p.Arg3384Gln)

SNV
Germline

Chr13:32398664

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA010355

rs_80358397

7 SubmittersRCV000112845 RCV000212293 RCV000571209 RCV001314535 RCV001804767 RCV004803133

NM_000059.4(BRCA2):c.10202C>T (p.Thr3401Met)

SNV
Germline

Chr13:32398715

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA010443

rs_55853199

18 SubmittersRCV000077247 RCV000132503 RCV000435257 RCV000755872 RCV001083163

NM_000059.4(BRCA2):c.10220A>G (p.Asn3407Ser)

SNV
Germline

Chr13:32398733

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA010482

rs_80358401

11 SubmittersRCV000112850 RCV000129602 RCV000212294 RCV000589028 RCV001370256

NM_000059.4(BRCA2):c.10222A>T (p.Lys3408Ter)

SNV
Germline

Chr13:32398735

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA010501

rs_80358402

10 SubmittersRCV000043728 RCV000112851 RCV000131732 RCV000212295 RCV000759573

NM_000059.4(BRCA2):c.10230C>A (p.Asp3410Glu)

SNV
Germline

Chr13:32398743

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Malignant tumor of breast
Condition: not provided
Hereditary cancer-predisposing syndrome
not specified
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA010527

rs_80358404

10 SubmittersRCV000043730 RCV000112852 RCV000500767 RCV000679152 RCV001017039 RCV001818216 RCV003460558

NM_000059.4(BRCA2):c.1033A>G (p.Lys345Glu)

SNV
Germline

Chr13:32332511

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA010607

rs_80358406

6 SubmittersRCV000043733 RCV000112877 RCV000562927 RCV003237419

NM_000059.4(BRCA2):c.10G>T (p.Gly4Ter)

SNV
Germline

Chr13:32316470

Pathogenic

Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2
Breast and/or ovarian cancer
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA010813

rs_397507571

10 SubmittersRCV000239090 RCV000257718 RCV000769679 RCV001017301 RCV001384947

NM_000059.4(BRCA2):c.1103C>A (p.Ser368Ter)

SNV
Germline

Chr13:32332581

Pathogenic

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast

Reviewed By Expert Panel

CA010822

rs_80358407

13 SubmittersRCV000043738 RCV000112879 RCV000222511 RCV000258963 RCV003473300

NM_000059.4(BRCA2):c.1117C>T (p.Gln373Ter)

SNV
Germline

Chr13:32332595

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA010847

rs_397507572

4 SubmittersRCV000256631 RCV000585682 RCV002433529

NM_000059.4(BRCA2):c.1124C>T (p.Pro375Leu)

SNV
Germline

Chr13:32332602

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA010864

rs_80358409

12 SubmittersRCV000043741 RCV000077250 RCV000219251 RCV000423315 RCV001703941 RCV002288542

NM_000059.4(BRCA2):c.1127T>G (p.Phe376Cys)

SNV
Germline

Chr13:32332605

Conflicting classifications of pathogenicity

not specified
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA010888

rs_80358410

13 SubmittersRCV000043742 RCV000112882 RCV000130007 RCV000203669 RCV001719792 RCV004803134

NM_000059.4(BRCA2):c.1153A>T (p.Lys385Ter)

SNV
Germline

Chr13:32332631

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA010988

rs_80358411

7 SubmittersRCV000112887 RCV000561185 RCV000657628 RCV002514183

NM_000059.4(BRCA2):c.1180G>T (p.Glu394Ter)

SNV
Germline

Chr13:32332658

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA011059

rs_397507575

2 SubmittersRCV000661426 RCV002514184

NM_000059.4(BRCA2):c.1183T>G (p.Trp395Gly)

SNV
Germline

Chr13:32332661

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA011077

rs_80358412

5 SubmittersRCV000112888 RCV001010084 RCV001317443

NM_000059.4(BRCA2):c.1211A>T (p.Asn404Ile)

SNV
Germline

Chr13:32332689

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA011175

rs_80358414

9 SubmittersRCV000112892 RCV000588048 RCV000773258 RCV001302330 RCV004803136

NM_000059.4(BRCA2):c.1225G>A (p.Glu409Lys)

SNV
Germline

Chr13:32332703

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA011235

rs_80358416

9 SubmittersRCV000043761 RCV000112895 RCV000164321 RCV000679154 RCV001251342

NM_000059.4(BRCA2):c.1244A>G (p.His415Arg)

SNV
Germline

Chr13:32332722

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Breast and/or ovarian cancer
not specified
Hereditary breast ovarian cancer syndrome
EBV-positive nodal T- and NK-cell lymphoma
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA011305

rs_80358417

17 SubmittersRCV000112899 RCV000160035 RCV000165768 RCV000735440 RCV000780016 RCV001084688 RCV004558293 RCV004803137

NM_000059.4(BRCA2):c.1247T>G (p.Ile416Ser)

SNV
Germline

Chr13:32332725

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group D1
Condition: not provided
Hereditary breast ovarian cancer syndrome
not specified

Criteria Provided
Conflicting Classifications

CA011324

rs_80358418

12 SubmittersRCV000077253 RCV000129196 RCV001112107 RCV001284073 RCV001394892 RCV004700317

NM_000059.4(BRCA2):c.1261C>T (p.Gln421Ter)

SNV
Germline/somatic

Chr13:32332739

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Gastric cancer
Malignant tumor of urinary bladder

Reviewed By Expert Panel

CA011382

rs_80358419

12 SubmittersRCV000112900 RCV000131850 RCV000496684 RCV003162362 RCV003332097

NM_000059.4(BRCA2):c.1315T>G (p.Phe439Val)

SNV
Germline

Chr13:32332793

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
BRCA2-related disorder

Criteria Provided
Conflicting Classifications

CA011580

rs_80358420

10 SubmittersRCV000043780 RCV000112907 RCV000162696 RCV000757039 RCV001526976 RCV004541230

NM_000059.4(BRCA2):c.1325C>T (p.Ser442Leu)

SNV
Germline

Chr13:32332803

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA011613

rs_80358421

4 SubmittersRCV000112909 RCV003156733 RCV003764718

NM_000059.4(BRCA2):c.1327G>T (p.Glu443Ter)

SNV
Germline

Chr13:32332805

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA011622

rs_397507579

5 SubmittersRCV000169567 RCV000238757

NM_000059.4(BRCA2):c.1342C>T (p.Arg448Cys)

SNV
Germline

Chr13:32332820

Conflicting classifications of pathogenicity

Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
BRCA2-related cancer predisposition
not specified

Criteria Provided
Conflicting Classifications

CA011683

rs_80358422

15 SubmittersRCV000043785 RCV000077254 RCV000165318 RCV000203634 RCV005357287 RCV005890336

NM_000059.4(BRCA2):c.1343G>A (p.Arg448His)

SNV
Germline

Chr13:32332821

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA011692

rs_80358423

14 SubmittersRCV000112910 RCV000130010 RCV000587298 RCV001175372 RCV001495330

NM_000059.4(BRCA2):c.136C>T (p.Pro46Ser)

SNV
Germline

Chr13:32319145

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA011790

rs_80358425

11 SubmittersRCV000113176 RCV000164910 RCV000588395 RCV001175345 RCV001306963

NM_000059.4(BRCA2):c.1375T>G (p.Leu459Val)

SNV
Germline

Chr13:32332853

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA011810

rs_80358426

3 SubmittersRCV000112915 RCV001348290 RCV003156734

NM_000059.4(BRCA2):c.1399A>T (p.Lys467Ter)

SNV
Germline

Chr13:32332877

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Breast neoplasm
8 conditions
Hereditary breast ovarian cancer syndrome
Gastric cancer
Familial cancer of breast
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 2

Reviewed By Expert Panel

CA011908

rs_80358427

18 SubmittersRCV000077256 RCV000131059 RCV000221316 RCV000240776 RCV000762915 RCV001385487 RCV003162365 RCV003473303 RCV005357289

NM_000059.4(BRCA2):c.1411G>T (p.Glu471Ter)

SNV
Germline

Chr13:32332889

Pathogenic

Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Gastric cancer
Familial cancer of breast

Reviewed By Expert Panel

CA011958

rs_80358428

13 SubmittersRCV000043801 RCV000112919 RCV000162910 RCV000195351 RCV003162366 RCV003473304

NM_000059.4(BRCA2):c.1414C>T (p.Gln472Ter)

SNV
Germline

Chr13:32332892

Pathogenic

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Breast and/or ovarian cancer
Breast carcinoma
Familial cancer of breast

Reviewed By Expert Panel

CA011969

rs_80358429

13 SubmittersRCV000043802 RCV000112920 RCV000509751 RCV000657753 RCV001270984 RCV001554325 RCV002514185

NM_000059.4(BRCA2):c.1418A>T (p.His473Leu)

SNV
Germline

Chr13:32332896

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA011980

rs_80358430

5 SubmittersRCV000112921 RCV000569851 RCV001338564

NM_000059.4(BRCA2):c.1423G>T (p.Glu475Ter)

SNV
Germline

Chr13:32332901

Pathogenic

Familial cancer of breast
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA012001

rs_397507587

8 SubmittersRCV000577355 RCV000657629 RCV000661641 RCV001385297 RCV002390184

NM_000059.4(BRCA2):c.1447G>A (p.Ala483Thr)

SNV
Germline

Chr13:32332925

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA012073

rs_80358432

5 SubmittersRCV000112922 RCV000509786 RCV001365914

NM_000059.4(BRCA2):c.1447G>C (p.Ala483Pro)

SNV
Germline

Chr13:32332925

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA012085

rs_80358432

9 SubmittersRCV000112923 RCV000132314 RCV000417931 RCV001284409 RCV001316342

NM_000059.4(BRCA2):c.1456C>T (p.Gln486Ter)

SNV
Germline

Chr13:32332934

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Familial cancer of breast

Reviewed By Expert Panel

CA012111

rs_80358434

14 SubmittersRCV000112924 RCV000219957 RCV000496375 RCV000520967 RCV003473305

NM_000059.4(BRCA2):c.145G>T (p.Glu49Ter)

SNV
Germline

Chr13:32319154

Pathogenic

Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Familial cancer of breast
9 conditions
Malignant tumor of breast
Gastric cancer

Reviewed By Expert Panel

CA012123

rs_80358435

26 SubmittersRCV000043811 RCV000077257 RCV000131868 RCV000167820 RCV000238910 RCV000515388 RCV001353561 RCV003162367

NM_000059.4(BRCA2):c.1463T>G (p.Ile488Arg)

SNV
Germline

Chr13:32332941

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA012142

rs_80358436

5 SubmittersRCV000043813 RCV000112925 RCV001011706

NM_000059.4(BRCA2):c.1483G>A (p.Ala495Thr)

SNV
Germline

Chr13:32332961

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast neoplasm
Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
BRCA2-related cancer predisposition
not specified

Criteria Provided
Conflicting Classifications

CA012191

rs_80358437

12 SubmittersRCV000043814 RCV000130135 RCV000414054 RCV000989001 RCV001284410 RCV004803138 RCV006268097

NM_000059.4(BRCA2):c.1483G>C (p.Ala495Pro)

SNV
Germline

Chr13:32332961

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA012202

rs_80358437

8 SubmittersRCV000112926 RCV000571207 RCV000781146 RCV001346743 RCV002277133

NM_000059.4(BRCA2):c.1528G>T (p.Glu510Ter)

SNV
Germline

Chr13:32333006

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Breast and/or ovarian cancer
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA012312

rs_80358438

11 SubmittersRCV000112930 RCV000485041 RCV000735525 RCV001004831 RCV001310170 RCV001382424 RCV004609300

NM_000059.4(BRCA2):c.1552G>C (p.Ala518Pro)

SNV
Germline

Chr13:32333030

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA012397

rs_80358440

5 SubmittersRCV000112934 RCV000480545 RCV001852918 RCV002390187

NM_000059.4(BRCA2):c.1558T>G (p.Phe520Val)

SNV
Germline

Chr13:32333036

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA012418

rs_80358441

10 SubmittersRCV000112935 RCV001012153 RCV001264457 RCV001313921

NM_000059.4(BRCA2):c.1568A>T (p.His523Leu)

SNV
Germline

Chr13:32333046

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA012447

rs_80358443

6 SubmittersRCV000112936 RCV000575869 RCV001852919 RCV004808564

NM_000059.4(BRCA2):c.1573A>T (p.Thr525Ser)

SNV
Germline

Chr13:32333051

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA012478

rs_80358444

4 SubmittersRCV000112937 RCV003156736 RCV002514187

NM_000059.4(BRCA2):c.1627C>A (p.His543Asn)

SNV
Germline

Chr13:32333105

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Malignant tumor of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
not specified
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA012670

rs_80358446

16 SubmittersRCV000077259 RCV000504335 RCV000510047 RCV000985466 RCV001321558 RCV001800335 RCV004803139

NM_000059.4(BRCA2):c.1630A>G (p.Thr544Ala)

SNV
Germline

Chr13:32333108

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA012682

rs_80358447

9 SubmittersRCV000043846 RCV000112944 RCV000562189 RCV001284411 RCV003230378 RCV005357290

NM_000059.4(BRCA2):c.1631C>T (p.Thr544Ile)

SNV
Germline

Chr13:32333109

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA012696

rs_80358448

13 SubmittersRCV000083087 RCV000130669 RCV000212211 RCV000586961 RCV001084269

NM_000059.4(BRCA2):c.1640C>T (p.Ser547Leu)

SNV
Germline

Chr13:32333118

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA012716

rs_80358449

5 SubmittersRCV000043850 RCV000112946 RCV002399403

NM_000059.4(BRCA2):c.164A>G (p.Asn55Ser)

SNV
Germline

Chr13:32319173

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Familial pancreatic carcinoma

Criteria Provided
Conflicting Classifications

CA012786

rs_80358450

6 SubmittersRCV000113209 RCV000129076 RCV000212200 RCV001371894 RCV005357291

NM_000059.4(BRCA2):c.1670T>G (p.Leu557Ter)

SNV
Germline

Chr13:32333148

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Familial cancer of breast
BRCA2-related cancer predisposition

Reviewed By Expert Panel

CA012870

rs_80358452

16 SubmittersRCV000112952 RCV000212212 RCV000217402 RCV000496933 RCV003473307 RCV004803141

NM_000059.4(BRCA2):c.1681G>T (p.Gly561Ter)

SNV
Germline

Chr13:32333159

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Familial cancer of breast

Reviewed By Expert Panel

CA012901

rs_80358455

5 SubmittersRCV000112959 RCV001012700 RCV001381024 RCV004566814

NM_000059.4(BRCA2):c.1689G>A (p.Trp563Ter)

SNV
Germline

Chr13:32333167

Pathogenic

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Malignant tumor of breast
Familial cancer of breast
8 conditions
Inherited ovarian cancer (without breast cancer)
Inherited breast cancer and ovarian cancer

Reviewed By Expert Panel

CA012907

rs_80358456

15 SubmittersRCV000043863 RCV000112960 RCV000581281 RCV000985467 RCV001354296 RCV003460561 RCV005003437 RCV006461294 RCV006451835

NM_000059.4(BRCA2):c.171C>G (p.Tyr57Ter)

SNV
Germline

Chr13:32319180

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA012997

rs_201523522

10 SubmittersRCV000241283 RCV000509640 RCV001284555 RCV001852921

NM_000059.4(BRCA2):c.172G>T (p.Glu58Ter)

SNV
Germline

Chr13:32319181

Pathogenic

Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA013013

rs_397507603

5 SubmittersRCV000577083 RCV000661505 RCV001387312 RCV006362030

NM_000059.4(BRCA2):c.1744A>G (p.Thr582Ala)

SNV
Germline

Chr13:32333222

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA013045

rs_80358457

10 SubmittersRCV000043870 RCV000112963 RCV000130844 RCV000761856

NM_000059.4(BRCA2):c.1748T>A (p.Leu583Ter)

SNV
Germline

Chr13:32333226

Pathogenic

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Familial cancer of breast
Condition: not provided

Reviewed By Expert Panel

CA013061

rs_397507604

8 SubmittersRCV000043871 RCV000165753 RCV000225624 RCV003460562 RCV004998145

NM_000059.4(BRCA2):c.175C>G (p.Pro59Ala)

SNV
Germline

Chr13:32319184

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Malignant tumor of breast
Breast and/or ovarian cancer
BRCA2-related disorder

Criteria Provided
Conflicting Classifications

CA013107

rs_56091799

19 SubmittersRCV000077263 RCV000120380 RCV000131721 RCV000724406 RCV001081846 RCV001358626 RCV003492346 RCV004537188

NM_000059.4(BRCA2):c.1763A>G (p.Asn588Ser)

SNV
Germline

Chr13:32333241

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast neoplasm
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
not specified
Condition: not provided
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA013138

rs_373400041

13 SubmittersRCV000043876 RCV000148439 RCV000166539 RCV000258376 RCV000779918 RCV000985469 RCV001262544

NM_000059.4(BRCA2):c.1769T>G (p.Phe590Cys)

SNV
Germline

Chr13:32333247

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Breast and/or ovarian cancer

Criteria Provided
Conflicting Classifications

CA013155

rs_80358459

13 SubmittersRCV000043879 RCV000077265 RCV000130772 RCV000486075 RCV000780024 RCV001798227

NM_000059.4(BRCA2):c.1784A>G (p.His595Arg)

SNV
Germline

Chr13:32333262

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA013206

rs_80358460

8 SubmittersRCV000112967 RCV000586420 RCV000776231 RCV001316717

NM_000059.4(BRCA2):c.1793C>T (p.Thr598Ile)

SNV
Germline

Chr13:32333271

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA013244

rs_80358462

9 SubmittersRCV000112971 RCV000509597 RCV000758865 RCV001313059

NM_000059.4(BRCA2):c.1800T>G (p.Tyr600Ter)

SNV
Germline

Chr13:32333278

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA013323

rs_80358464

13 SubmittersRCV000077266 RCV000162912 RCV000418517 RCV000496768

NM_000059.4(BRCA2):c.1817C>T (p.Pro606Leu)

SNV
Germline

Chr13:32333295

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Hereditary breast ovarian cancer syndrome
BRCA2-related cancer predisposition
8 conditions

Criteria Provided
Conflicting Classifications

CA013443

rs_80358469

16 SubmittersRCV000077268 RCV000163125 RCV000479578 RCV000779988 RCV001088382 RCV004803143 RCV005003438

NM_000059.4(BRCA2):c.1820A>C (p.Lys607Thr)

SNV
Germline

Chr13:32333298

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA013463

rs_55962656

14 SubmittersRCV000043901 RCV000077269 RCV000163031 RCV000436051 RCV000859148 RCV001262739

NM_000059.4(BRCA2):c.1825C>G (p.Gln609Glu)

SNV
Germline

Chr13:32333303

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 2
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA013481

rs_80358472

11 SubmittersRCV000043902 RCV000112982 RCV000130263 RCV000507323 RCV001582539 RCV005357293 RCV004803144

NM_000059.4(BRCA2):c.1825C>T (p.Gln609Ter)

SNV
Germline

Chr13:32333303

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA013487

rs_80358472

4 SubmittersRCV000112983 RCV001852923 RCV002408540

NM_000059.4(BRCA2):c.1826A>G (p.Gln609Arg)

SNV
Germline

Chr13:32333304

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
BRCA2-related disorder
BRCA2-related cancer predisposition
Cancer or benign tumor

Criteria Provided
Conflicting Classifications

CA013495

rs_80358473

14 SubmittersRCV000043904 RCV000083089 RCV000164841 RCV000587069 RCV000855633 RCV004732602 RCV004803145 RCV005625250

NM_000059.4(BRCA2):c.1855C>T (p.Gln619Ter)

SNV
Germline

Chr13:32333333

Pathogenic

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
BRCA2-related disorder

Reviewed By Expert Panel

CA013627

rs_80358476

13 SubmittersRCV000043911 RCV000112988 RCV000216070 RCV000254954 RCV004724775

NM_000059.4(BRCA2):c.1875T>A (p.Phe625Leu)

SNV
Germline

Chr13:32333353

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Malignant tumor of breast

Criteria Provided
Conflicting Classifications

CA013680

rs_80358478

7 SubmittersRCV000043914 RCV000112989 RCV000130677 RCV000502441

NM_000059.4(BRCA2):c.1912T>G (p.Leu638Val)

SNV
Germline

Chr13:32336267

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA013912

rs_80358481

4 SubmittersRCV000112994 RCV000561741 RCV001359390

NM_000059.4(BRCA2):c.191C>T (p.Thr64Ile)

SNV
Germline

Chr13:32319200

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Familial cancer of breast
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA013923

rs_397507615

7 SubmittersRCV000215512 RCV000588169 RCV001306617 RCV003473309 RCV005357295

NM_000059.4(BRCA2):c.1951G>T (p.Asp651Tyr)

SNV
Germline

Chr13:32336306

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Malignant tumor of breast

Criteria Provided
Conflicting Classifications

CA014008

rs_80358482

9 SubmittersRCV000112998 RCV000132142 RCV001313663 RCV001354692

NM_000059.4(BRCA2):c.196C>T (p.Gln66Ter)

SNV
Germline

Chr13:32319205

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA014053

rs_397507617

8 SubmittersRCV000168531 RCV000164594 RCV000759584 RCV001387319

NM_000059.4(BRCA2):c.2003G>A (p.Arg668Lys)

SNV
Germline

Chr13:32336358

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA014104

rs_80358483

5 SubmittersRCV000043934 RCV000113004 RCV000212217 RCV003156740

NM_000059.4(BRCA2):c.2024C>G (p.Thr675Arg)

SNV
Germline

Chr13:32336379

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA014128

rs_80358484

8 SubmittersRCV000113006 RCV000168556 RCV000222018 RCV000481560 RCV003607209

NM_000059.4(BRCA2):c.2064T>G (p.Tyr688Ter)

SNV
Germline

Chr13:32336419

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA014258

rs_80358485

4 SubmittersRCV000113009 RCV001382568 RCV004948153

NM_000059.4(BRCA2):c.2097G>T (p.Gln699His)

SNV
Germline

Chr13:32336452

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
not specified
Familial prostate cancer

Criteria Provided
Conflicting Classifications

CA014338

rs_80358486

13 SubmittersRCV000113013 RCV000563839 RCV000679158 RCV001348807 RCV003235004 RCV005357296

NM_000059.4(BRCA2):c.2122T>A (p.Ser708Thr)

SNV
Germline

Chr13:32336477

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Breast and/or ovarian cancer
8 conditions
not specified
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA014385

rs_80358488

13 SubmittersRCV000043947 RCV000113017 RCV000130632 RCV000216194 RCV000735530 RCV000763881 RCV001194412 RCV004803146

NM_000059.4(BRCA2):c.2125C>G (p.Leu709Val)

SNV
Germline

Chr13:32336480

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
BRCA2-related disorder
BRCA2-related cancer predisposition
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 2
not specified

Criteria Provided
Conflicting Classifications

CA014396

rs_80358489

12 SubmittersRCV000113018 RCV000164754 RCV000236275 RCV001297703 RCV004537189 RCV004803147 RCV005357297 RCV005237466

NM_000059.4(BRCA2):c.2135T>C (p.Leu712Pro)

SNV
Germline

Chr13:32336490

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA014418

rs_80358490

11 SubmittersRCV000043949 RCV000113019 RCV000131476 RCV000590581 RCV006273077

NM_000059.4(BRCA2):c.215A>G (p.Asn72Ser)

SNV
Germline

Chr13:32319224

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Infiltrating duct carcinoma of breast
not specified
Ovarian cancer
Familial cancer of breast
Familial prostate cancer

Criteria Provided
Conflicting Classifications

CA014475

rs_276174818

13 SubmittersRCV000043952 RCV000113284 RCV000212202 RCV000562408 RCV000677865 RCV001778687 RCV003153333 RCV002250508 RCV005357298

NM_000059.4(BRCA2):c.2175A>T (p.Lys725Asn)

SNV
Germline

Chr13:32336530

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA014530

rs_80358491

3 SubmittersRCV000113020 RCV001852924 RCV003156742

NM_000059.4(BRCA2):c.2187A>G (p.Ile729Met)

SNV
Germline

Chr13:32336542

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
not specified

Criteria Provided
Conflicting Classifications

CA014573

rs_397507620

8 SubmittersRCV000326298 RCV001014696 RCV001304293 RCV003996471 RCV004767037

NM_000059.4(BRCA2):c.2224C>T (p.Gln742Ter)

SNV
Germline

Chr13:32336579

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast
8 conditions
BRCA2-related disorder

Reviewed By Expert Panel

CA014670

rs_80358494

16 SubmittersRCV000077273 RCV000212220 RCV000496760 RCV000568409 RCV003473311 RCV002490602 RCV004732603

NM_000059.4(BRCA2):c.2245A>G (p.Ser749Gly)

SNV
Germline

Chr13:32336600

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
8 conditions
BRCA2-related disorder

Criteria Provided
Conflicting Classifications

CA014730

rs_80358495

14 SubmittersRCV000043961 RCV000113026 RCV000129533 RCV000481492 RCV001193201 RCV002477144 RCV004537190

NM_000059.4(BRCA2):c.2303C>T (p.Thr768Ile)

SNV
Germline

Chr13:32336658

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA014909

rs_55824746

8 SubmittersRCV000113030 RCV000214463 RCV000218187 RCV001297725

NM_000059.4(BRCA2):c.2324C>T (p.Ser775Phe)

SNV
Germline

Chr13:32336679

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA014938

rs_276174820

3 SubmittersRCV000113032 RCV001349389 RCV003156747

NM_000059.4(BRCA2):c.2357C>G (p.Ser786Cys)

SNV
Germline

Chr13:32336712

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Malignant tumor of breast
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA015031

rs_80358501

6 SubmittersRCV000113035 RCV000499976 RCV000773259 RCV001315892

NM_000059.4(BRCA2):c.2376C>A (p.Tyr792Ter)

SNV
Germline

Chr13:32336731

Pathogenic

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast

Reviewed By Expert Panel

CA015072

rs_80358503

13 SubmittersRCV000043981 RCV000077277 RCV000131058 RCV001781369 RCV003460566

NM_000059.4(BRCA2):c.2399G>T (p.Gly800Val)

SNV
Germline

Chr13:32336754

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA015127

rs_276174821

3 SubmittersRCV000113036 RCV002513642 RCV003156748

NM_000059.4(BRCA2):c.240A>G (p.Ile80Met)

SNV
Germline

Chr13:32319249

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
not specified
Condition: not provided
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA015159

rs_80358505

9 SubmittersRCV000043985 RCV000130843 RCV000113305 RCV000781151 RCV001283918 RCV003460567

NM_000059.4(BRCA2):c.2417A>G (p.Asp806Gly)

SNV
Germline

Chr13:32336772

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA015187

rs_80358506

6 SubmittersRCV000083091 RCV001015276 RCV001852926

NM_000059.4(BRCA2):c.2428A>G (p.Thr810Ala)

SNV
Germline

Chr13:32336783

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
not specified
Hereditary cancer-predisposing syndrome
Endometrial carcinoma
BRCA2-related disorder

Criteria Provided
Conflicting Classifications

CA015228

rs_80358508

9 SubmittersRCV000043990 RCV000077278 RCV000508135 RCV000564107 RCV001354265 RCV004732604

NM_000059.4(BRCA2):c.2429C>T (p.Thr810Ile)

SNV
Germline

Chr13:32336784

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified

Criteria Provided
Conflicting Classifications

CA015239

rs_80358509

8 SubmittersRCV000043991 RCV000113039 RCV000131752 RCV000254641

NM_000059.4(BRCA2):c.2441C>T (p.Pro814Leu)

SNV
Germline

Chr13:32336796

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA015273

rs_80358510

6 SubmittersRCV000113044 RCV000484505 RCV001015557 RCV001363912

NM_000059.4(BRCA2):c.244A>T (p.Lys82Ter)

SNV
Germline

Chr13:32319253

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Condition: not provided

Reviewed By Expert Panel

CA015328

rs_397507628

4 SubmittersRCV000257796 RCV000496688 RCV004589534

NM_000059.4(BRCA2):c.2459A>G (p.Asp820Gly)

SNV
Germline

Chr13:32336814

Conflicting classifications of pathogenicity

Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome
BRCA2-related disorder
Familial prostate cancer

Criteria Provided
Conflicting Classifications

CA015354

rs_80358511

16 SubmittersRCV000044000 RCV000077279 RCV000130196 RCV000435008 RCV001084667 RCV004528241 RCV005357299

NM_000059.4(BRCA2):c.2464T>C (p.Cys822Arg)

SNV
Germline

Chr13:32336819

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
8 conditions

Criteria Provided
Conflicting Classifications

CA015378

rs_80358512

11 SubmittersRCV000044001 RCV000077280 RCV000220861 RCV000780041 RCV001550754 RCV002504933

NM_000059.4(BRCA2):c.2471T>G (p.Leu824Ter)

SNV
Germline

Chr13:32336826

Pathogenic

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA015407

rs_397507631

8 SubmittersRCV000044003 RCV000257389 RCV000506370 RCV003473314 RCV002453345

NM_000059.4(BRCA2):c.250C>T (p.Gln84Ter)

SNV
Germline/somatic

Chr13:32319259

Pathogenic

Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast
BRCA2-related disorder
BRCA2-related cancer predisposition

Reviewed By Expert Panel

CA015512

rs_80358515

16 SubmittersRCV000044007 RCV000077281 RCV000195353 RCV000564855 RCV003473315 RCV004724776 RCV006249575

NM_000059.4(BRCA2):c.2517C>A (p.Tyr839Ter)

SNV
Germline

Chr13:32336872

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Breast and/or ovarian cancer
Hereditary breast ovarian cancer syndrome
Familial cancer of breast

Reviewed By Expert Panel

CA015526

rs_80358516

12 SubmittersRCV000113053 RCV000131057 RCV000223462 RCV001270986 RCV001385315 RCV003473316

NM_000059.4(BRCA2):c.2528C>T (p.Ala843Val)

SNV
Germline

Chr13:32336883

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA015568

rs_80358517

8 SubmittersRCV000113055 RCV000219470 RCV000483891 RCV000781048 RCV001321081

NM_000059.4(BRCA2):c.2537C>G (p.Ser846Ter)

SNV
Germline

Chr13:32336892

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA015578

rs_80358518

6 SubmittersRCV000113056 RCV001387564 RCV003473317 RCV005781915

NM_000059.4(BRCA2):c.2561A>G (p.Asn854Ser)

SNV
Germline

Chr13:32336916

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA015650

rs_80358520

9 SubmittersRCV000113061 RCV000219656 RCV000766391 RCV001343602

NM_000059.4(BRCA2):c.2599A>G (p.Thr867Ala)

SNV
Germline

Chr13:32336954

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA015783

rs_80358522

5 SubmittersRCV000113068 RCV000572035 RCV001852927 RCV003607210

NM_000059.4(BRCA2):c.2606C>T (p.Ser869Leu)

SNV
Germline

Chr13:32336961

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group D1
Hereditary breast ovarian cancer syndrome
Malignant tumor of breast
Inherited breast cancer and ovarian cancer

Criteria Provided
Conflicting Classifications

CA015810

rs_80358523

9 SubmittersRCV000113070 RCV000163028 RCV001109534 RCV001339978 RCV001357214 RCV004691733

NM_000059.4(BRCA2):c.2612C>A (p.Ser871Ter)

SNV
Germline

Chr13:32336967

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Familial cancer of breast
Prostate cancer
Breast-ovarian cancer, familial, susceptibility to, 2
Malignant tumor of breast
Condition: not provided
BRCA2-related disorder

Reviewed By Expert Panel

CA015821

rs_397507634

13 SubmittersRCV000077282 RCV000213349 RCV000590670 RCV001027675 RCV001357295 RCV003114227 RCV004732605

NM_000059.4(BRCA2):c.2657A>T (p.Asn886Ile)

SNV
Germline

Chr13:32337012

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA015961

rs_80358526

6 SubmittersRCV000113074 RCV001345499 RCV003153334 RCV003156751

NM_000059.4(BRCA2):c.2678A>G (p.Gln893Arg)

SNV
Germline

Chr13:32337033

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA016015

rs_276174827

3 SubmittersRCV000113075 RCV001345255 RCV003156752

NM_000059.4(BRCA2):c.2735C>T (p.Thr912Ile)

SNV
Germline

Chr13:32337090

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA016183

rs_276174828

4 SubmittersRCV000113086 RCV000221941 RCV005089409

NM_000059.4(BRCA2):c.273C>G (p.Tyr91Ter)

SNV
Germline

Chr13:32319282

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA016209

rs_145988146

3 SubmittersRCV000257002 RCV002514189

NM_000059.4(BRCA2):c.2771A>T (p.Asn924Ile)

SNV
Germline

Chr13:32337126

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
not specified

Criteria Provided
Conflicting Classifications

CA016313

rs_80358530

11 SubmittersRCV000113089 RCV000130266 RCV000585963 RCV001079700 RCV002267809

NM_000059.4(BRCA2):c.2798C>G (p.Thr933Arg)

SNV
Germline

Chr13:32337153

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA016389

rs_276174830

6 SubmittersRCV000077286 RCV001191192 RCV001314174

NM_000059.4(BRCA2):c.2813C>A (p.Ala938Glu)

SNV
Germline

Chr13:32337168

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
BRCA2-related disorder

Criteria Provided
Conflicting Classifications

CA016486

rs_55773834

13 SubmittersRCV000044067 RCV000083094 RCV000130944 RCV000587088 RCV001797611 RCV004528242

NM_000059.4(BRCA2):c.2830A>T (p.Lys944Ter)

SNV
Germline

Chr13:32337185

Pathogenic

Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Ovarian neoplasm
Fanconi anemia complementation group D1
Malignant tumor of breast
BRCA2-related cancer predisposition
8 conditions
BRCA2-related disorder

Reviewed By Expert Panel

CA016531

rs_80358533

43 SubmittersRCV000044070 RCV000077287 RCV000131101 RCV000212222 RCV000496649 RCV000785217 RCV001028039 RCV001358552 RCV004803151 RCV004795965 RCV004724777

NM_000059.4(BRCA2):c.2837A>G (p.Asp946Gly)

SNV
Germline

Chr13:32337192

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA016584

rs_55972907

8 SubmittersRCV000113103 RCV000132081 RCV000588917 RCV000855581 RCV001445276

NM_000059.4(BRCA2):c.2849T>A (p.Val950Asp)

SNV
Germline

Chr13:32337204

Conflicting classifications of pathogenicity

not specified
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA016619

rs_80358535

8 SubmittersRCV000120346 RCV000113105 RCV000222954 RCV000587157 RCV002514190

NM_000059.4(BRCA2):c.2854G>T (p.Ala952Ser)

SNV
Germline

Chr13:32337209

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA016630

rs_80358536

6 SubmittersRCV000113107 RCV000773198 RCV000985488 RCV001319853

NM_000059.4(BRCA2):c.2881C>T (p.Gln961Ter)

SNV
Germline

Chr13:32337236

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Condition: not provided

Reviewed By Expert Panel

CA016668

rs_80358538

7 SubmittersRCV000077288 RCV002514191 RCV006277682

NM_000059.4(BRCA2):c.2899C>G (p.Leu967Val)

SNV
Germline

Chr13:32337254

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA016713

rs_80358539

4 SubmittersRCV000113111 RCV003156753 RCV005089410

NM_000059.4(BRCA2):c.289G>T (p.Glu97Ter)

SNV
Germline

Chr13:32319298

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Familial cancer of breast

Reviewed By Expert Panel

CA016722

rs_397507646

13 SubmittersRCV000083095 RCV000166898 RCV000214710 RCV000709286 RCV003473320

NM_000059.4(BRCA2):c.2944A>C (p.Ile982Leu)

SNV
Germline

Chr13:32337299

Conflicting classifications of pathogenicity

not specified
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Malignant tumor of breast

Criteria Provided
Conflicting Classifications

CA016848

rs_28897717

16 SubmittersRCV000044090 RCV000113118 RCV000131312 RCV000167800 RCV000587861 RCV001353864

NM_000059.4(BRCA2):c.2957A>G (p.Asn986Ser)

SNV
Germline

Chr13:32337312

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Breast and/or ovarian cancer
Hereditary breast ovarian cancer syndrome
BRCA2-related disorder

Criteria Provided
Conflicting Classifications

CA016896

rs_28897718

16 SubmittersRCV000113119 RCV000129122 RCV000168561 RCV000586870 RCV000735534 RCV001080867 RCV004541233

NM_000059.4(BRCA2):c.298A>T (p.Lys100Ter)

SNV
Germline

Chr13:32319307

Pathogenic

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Breast-ovarian cancer, familial, susceptibility to, 1

Reviewed By Expert Panel

CA016977

rs_80358546

4 SubmittersRCV000044099 RCV000113370 RCV001310165

NM_000059.4(BRCA2):c.2T>C (p.Met1Thr)

SNV
Germline

Chr13:32316462

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA017005

rs_80358547

4 SubmittersRCV000165930 RCV000662990 RCV000781042

NM_000059.4(BRCA2):c.2T>G (p.Met1Arg)

SNV
Germline

Chr13:32316462

Pathogenic

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA017013

rs_80358547

11 SubmittersRCV000044102 RCV000113010 RCV000131870 RCV000759594

NM_000059.4(BRCA2):c.3043A>T (p.Lys1015Ter)

SNV
Germline

Chr13:32337398

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA017082

rs_397507652

3 SubmittersRCV000256630 RCV006461296

NM_000059.4(BRCA2):c.305A>G (p.Lys102Arg)

SNV
Germline

Chr13:32319314

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Familial cancer of breast
Condition: not provided

Criteria Provided
Conflicting Classifications

CA017117

rs_80358549

7 SubmittersRCV000113382 RCV001182331 RCV001364084 RCV003607211 RCV004808565

NM_000059.4(BRCA2):c.3073A>G (p.Lys1025Glu)

SNV
Germline

Chr13:32337428

Conflicting classifications of pathogenicity

not specified
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Malignant tumor of breast
Breast and/or ovarian cancer

Criteria Provided
Conflicting Classifications

CA017162

rs_80358550

16 SubmittersRCV000044112 RCV000077290 RCV000131460 RCV000586348 RCV001083912 RCV001354029 RCV003149675

NM_000059.4(BRCA2):c.3076A>T (p.Lys1026Ter)

SNV
Germline

Chr13:32337431

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast and/or ovarian cancer
Condition: not provided

Reviewed By Expert Panel

CA017194

rs_80358552

9 SubmittersRCV000113132 RCV000496493 RCV001018494 RCV001271031 RCV002254907

NM_000059.4(BRCA2):c.3085A>G (p.Met1029Val)

SNV
Germline

Chr13:32337440

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA017207

rs_80358553

10 SubmittersRCV000083096 RCV000484779 RCV001361254 RCV002321539 RCV003607212

NM_000059.4(BRCA2):c.3088T>G (p.Phe1030Val)

SNV
Germline

Chr13:32337443

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA017215

rs_80358554

11 SubmittersRCV000044116 RCV000077291 RCV000165765 RCV000214139

NM_000059.4(BRCA2):c.3103G>T (p.Glu1035Ter)

SNV
Germline

Chr13:32337458

Pathogenic

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Rhabdomyosarcoma
Familial cancer of breast
BRCA2-related disorder
BRCA2-related cancer predisposition

Reviewed By Expert Panel

CA017241

rs_80358556

21 SubmittersRCV000044119 RCV000077292 RCV000131104 RCV000212224 RCV000508209 RCV001257547 RCV003473323 RCV004732608 RCV004803154

NM_000059.4(BRCA2):c.3137A>G (p.Glu1046Gly)

SNV
Germline

Chr13:32337492

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
not specified
Fanconi anemia complementation group D1
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA017285

rs_80358559

10 SubmittersRCV000044123 RCV000129709 RCV000113138 RCV000483875 RCV000779942 RCV001535463

NM_000059.4(BRCA2):c.3142G>A (p.Val1048Ile)

SNV
Germline

Chr13:32337497

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA017293

rs_80358560

3 SubmittersRCV000113139 RCV001366576 RCV003156757

NM_000059.4(BRCA2):c.314T>G (p.Leu105Ter)

SNV
Germline

Chr13:32319323

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast and/or ovarian cancer
Condition: not provided
Familial cancer of breast

Reviewed By Expert Panel

CA017305

rs_80358561

10 SubmittersRCV000077293 RCV000219806 RCV000496591 RCV000735536 RCV001358503 RCV003473324

NM_000059.4(BRCA2):c.316+2T>C

SNV
Germline

Chr13:32319327

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Gastric cancer
Familial cancer of breast

Reviewed By Expert Panel

CA017370

rs_81002805

9 SubmittersRCV000113397 RCV000131849 RCV000759596 RCV001384949 RCV003162368 RCV004566818

NM_000059.4(BRCA2):c.316+5G>A

SNV
Germline/somatic

Chr13:32319330

Pathogenic

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Breast and/or ovarian cancer
Familial cancer of breast
Malignant tumor of urinary bladder
8 conditions

Reviewed By Expert Panel

CA017381

rs_81002840

18 SubmittersRCV000044130 RCV000077294 RCV000216220 RCV000486888 RCV000735537 RCV003338395 RCV003332098 RCV005394271

NM_000059.4(BRCA2):c.316+5G>C

SNV
Germline

Chr13:32319330

Pathogenic

Familial cancer of breast
Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA017387

rs_81002840

7 SubmittersRCV000577435 RCV000588126 RCV000759597 RCV001000109 RCV001018884

NM_000059.4(BRCA2):c.3166C>T (p.Gln1056Ter)

SNV
Germline

Chr13:32337521

Pathogenic

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided

Reviewed By Expert Panel

CA017394

rs_79728106

14 SubmittersRCV000044134 RCV000077295 RCV000223645 RCV003473326 RCV004700318

NM_000059.4(BRCA2):c.3170A>G (p.Lys1057Arg)

SNV
Germline

Chr13:32337525

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA017433

rs_80358562

8 SubmittersRCV000113142 RCV000709307 RCV003156758 RCV004700319

NM_000059.4(BRCA2):c.3206C>T (p.Ser1069Phe)

SNV
Germline

Chr13:32337561

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
BRCA2-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA017538

rs_80358563

12 SubmittersRCV000044147 RCV000113147 RCV000165150 RCV000985496 RCV004542696 RCV004562231

NM_000059.4(BRCA2):c.3211C>T (p.His1071Tyr)

SNV
Germline

Chr13:32337566

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
8 conditions
not specified

Criteria Provided
Conflicting Classifications

CA017559

rs_80358564

12 SubmittersRCV000113148 RCV000212225 RCV000572282 RCV001299345 RCV005003440 RCV004799761

NM_000059.4(BRCA2):c.3212A>G (p.His1071Arg)

SNV
Germline

Chr13:32337567

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA017566

rs_80358565

7 SubmittersRCV000077297 RCV000220168 RCV001365804 RCV003476922

NM_000059.4(BRCA2):c.323A>G (p.Asn108Ser)

SNV
Germline

Chr13:32325082

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Fanconi anemia complementation group D1
Malignant tumor of breast
Hereditary breast ovarian cancer syndrome
Familial cancer of breast
not specified
8 conditions

Criteria Provided
Conflicting Classifications

CA017610

rs_80358568

15 SubmittersRCV000077298 RCV000166938 RCV000221445 RCV000315720 RCV001356621 RCV001372390 RCV002250509 RCV002267810 RCV005007965

NM_000059.4(BRCA2):c.3245A>G (p.Lys1082Arg)

SNV
Germline

Chr13:32337600

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA017616

rs_80358569

12 SubmittersRCV000113150 RCV000587691 RCV000569193 RCV001361625 RCV003488363 RCV004803156

NM_000059.4(BRCA2):c.3254A>G (p.His1085Arg)

SNV
Germline

Chr13:32337609

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA017628

rs_80358570

15 SubmittersRCV000044157 RCV000077299 RCV000220389 RCV000432492 RCV001701731

NM_000059.4(BRCA2):c.3256A>G (p.Ile1086Val)

SNV
Germline

Chr13:32337611

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Breast neoplasm
not specified
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA017635

rs_80358571

12 SubmittersRCV000044158 RCV000077300 RCV000240692 RCV000419030 RCV000509892 RCV000589377

NM_000059.4(BRCA2):c.3265C>T (p.Gln1089Ter)

SNV
Germline

Chr13:32337620

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Familial cancer of breast
8 conditions

Reviewed By Expert Panel

CA017668

rs_80358573

10 SubmittersRCV000113153 RCV000509972 RCV001310144 RCV001852931 RCV003473328 RCV004795968

NM_000059.4(BRCA2):c.3270G>C (p.Met1090Ile)

SNV
Germline

Chr13:32337625

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
not specified
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA017687

rs_80358574

6 SubmittersRCV000113155 RCV001194441 RCV001191193 RCV001314298

NM_000059.4(BRCA2):c.3296C>G (p.Ser1099Ter)

SNV
Germline

Chr13:32337651

Pathogenic

Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Gastric cancer

Reviewed By Expert Panel

CA017733

rs_397507663

5 SubmittersRCV000577700 RCV000661739 RCV000779972 RCV001019755 RCV003162370

NM_000059.4(BRCA2):c.3310A>C (p.Thr1104Pro)

SNV
Germline

Chr13:32337665

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
BRCA2-related cancer predisposition
Pilocytic astrocytoma

Criteria Provided
Conflicting Classifications

CA017768

rs_80358577

13 SubmittersRCV000044176 RCV000083097 RCV000163592 RCV000758881 RCV000781094 RCV004803157 RCV006454646

NM_000059.4(BRCA2):c.3319C>T (p.Gln1107Ter)

SNV
Germline

Chr13:32337674

Pathogenic

Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA017774

rs_80358578

7 SubmittersRCV000162918 RCV000113162 RCV001382649

NM_000059.4(BRCA2):c.3326C>T (p.Ala1109Val)

SNV
Germline

Chr13:32337681

Conflicting classifications of pathogenicity

not specified
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Cervical cancer

Criteria Provided
Conflicting Classifications

CA017785

rs_41293479

14 SubmittersRCV000044178 RCV000077301 RCV000129186 RCV000203645 RCV000586235 RCV005890338

NM_000059.4(BRCA2):c.3362C>G (p.Ser1121Ter)

SNV
Germline

Chr13:32337717

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Malignant tumor of breast
Familial cancer of breast

Reviewed By Expert Panel

CA017866

rs_80358579

12 SubmittersRCV000077302 RCV000131100 RCV000219700 RCV000504065 RCV001353553 RCV003460570

NM_000059.4(BRCA2):c.3367A>G (p.Ser1123Gly)

SNV
Germline

Chr13:32337722

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA017884

rs_80358581

7 SubmittersRCV000113166 RCV001368662 RCV002453346 RCV003114228

NM_000059.4(BRCA2):c.3413A>T (p.Gln1138Leu)

SNV
Germline

Chr13:32337768

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA017965

rs_80358584

8 SubmittersRCV000113173 RCV000509872 RCV001302307 RCV002468996 RCV004803158

NM_000059.4(BRCA2):c.3419G>C (p.Ser1140Thr)

SNV
Germline

Chr13:32337774

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA017980

rs_80358585

6 SubmittersRCV000113174 RCV001343730 RCV002453347 RCV003476923 RCV005357302

NM_000059.4(BRCA2):c.341A>G (p.His114Arg)

SNV
Germline

Chr13:32325100

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary cancer-predisposing syndrome
not specified

Criteria Provided
Conflicting Classifications

CA017983

rs_80358586

9 SubmittersRCV000044189 RCV000113436 RCV000214245 RCV000568060 RCV006263643

NM_000059.4(BRCA2):c.3431T>G (p.Val1144Gly)

SNV
Germline

Chr13:32337786

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA017998

rs_80358587

10 SubmittersRCV000083098 RCV000129914 RCV001434940 RCV001703943 RCV005357303

NM_000059.4(BRCA2):c.343A>G (p.Lys115Glu)

SNV
Germline

Chr13:32325102

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA018014

rs_56242644

10 SubmittersRCV000113438 RCV000129695 RCV000235137 RCV000586594 RCV001367677

NM_000059.4(BRCA2):c.3451A>G (p.Ile1151Val)

SNV
Germline

Chr13:32337806

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA018064

rs_80358591

9 SubmittersRCV000044197 RCV000113178 RCV000214609 RCV000502245 RCV001775562

NM_000059.4(BRCA2):c.3455T>G (p.Leu1152Ter)

SNV
Germline

Chr13:32337810

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Malignant tumor of breast
Hereditary breast ovarian cancer syndrome
Familial cancer of breast

Reviewed By Expert Panel

CA018097

rs_80358593

11 SubmittersRCV000113180 RCV000505837 RCV000509646 RCV001356768 RCV001852933 RCV003460571

NM_000059.4(BRCA2):c.3458A>G (p.Lys1153Arg)

SNV
Germline

Chr13:32337813

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA018105

rs_80358594

10 SubmittersRCV000044202 RCV000129509 RCV000113181 RCV000588905 RCV002468997

NM_000059.4(BRCA2):c.3496G>A (p.Val1166Ile)

SNV
Germline

Chr13:32337851

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
not specified
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA018177

rs_80358596

7 SubmittersRCV000113184 RCV000507432 RCV000509836 RCV001339276 RCV004803161

NM_000059.4(BRCA2):c.3499A>G (p.Ile1167Val)

SNV
Germline

Chr13:32337854

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
BRCA2-related cancer predisposition
not specified
Low grade glioma

Criteria Provided
Conflicting Classifications

CA018187

rs_276174834

9 SubmittersRCV000113185 RCV000212230 RCV001020449 RCV001423831 RCV005357304 RCV005417446 RCV006454647

NM_000059.4(BRCA2):c.34T>G (p.Phe12Val)

SNV
Germline

Chr13:32316494

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary breast ovarian cancer syndrome
not specified
Familial cancer of breast
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA018197

rs_80358597

14 SubmittersRCV000129690 RCV000077304 RCV000255640 RCV001367891 RCV002307379 RCV004566819 RCV004803162

NM_000059.4(BRCA2):c.3503T>A (p.Met1168Lys)

SNV
Germline

Chr13:32337858

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
BRCA2-related cancer predisposition
Pilocytic astrocytoma

Criteria Provided
Conflicting Classifications

CA018209

rs_80358598

13 SubmittersRCV000044210 RCV000083099 RCV000163591 RCV000759598 RCV000781095 RCV004803163 RCV006454648

NM_000059.4(BRCA2):c.3515C>G (p.Ser1172Trp)

SNV
Germline

Chr13:32337870

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
BRCA2-related disorder
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 2
Fanconi anemia complementation group D1
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA018223

rs_80358600

17 SubmittersRCV000044212 RCV000077305 RCV000222703 RCV000781071 RCV000985504 RCV002513644 RCV005357305 RCV005862747

NM_000059.4(BRCA2):c.3536G>A (p.Ser1179Asn)

SNV
Germline

Chr13:32337891

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA018282

rs_397507674

3 SubmittersRCV000577288 RCV003156760 RCV006461298

NM_000059.4(BRCA2):c.3539A>G (p.Lys1180Arg)

SNV
Germline

Chr13:32337894

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Fanconi anemia complementation group D1
Hereditary breast ovarian cancer syndrome
Familial prostate cancer

Criteria Provided
Conflicting Classifications

CA018286

rs_28897720

17 SubmittersRCV000044217 RCV000077307 RCV000129986 RCV000219144 RCV000657117 RCV005862748 RCV005364922

NM_000059.4(BRCA2):c.3598T>A (p.Cys1200Ser)

SNV
Germline

Chr13:32337953

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA018392

rs_80358607

5 SubmittersRCV000113194 RCV001360297 RCV003156761

NM_000059.4(BRCA2):c.3622T>A (p.Leu1208Ile)

SNV
Germline

Chr13:32337977

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA018418

rs_80358608

4 SubmittersRCV000113198 RCV002453350 RCV003644869

NM_000059.4(BRCA2):c.3635A>T (p.Asn1212Ile)

SNV
Germline

Chr13:32337990

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA018434

rs_80358609

9 SubmittersRCV000044232 RCV000113199 RCV000166119 RCV000588318

NM_000059.4(BRCA2):c.3655T>C (p.Phe1219Leu)

SNV
Germline

Chr13:32338010

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA018474

rs_80358610

4 SubmittersRCV000113202 RCV001305686 RCV002453352

NM_000059.4(BRCA2):c.3661T>C (p.Ser1221Pro)

SNV
Germline

Chr13:32338016

Conflicting classifications of pathogenicity

not specified
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast and/or ovarian cancer

Criteria Provided
Conflicting Classifications

CA018488

rs_80358611

13 SubmittersRCV000044238 RCV000077310 RCV000132318 RCV000195368 RCV001719794 RCV001798231

NM_000059.4(BRCA2):c.3677A>T (p.Lys1226Ile)

SNV
Germline

Chr13:32338032

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA018539

rs_80358612

6 SubmittersRCV000044240 RCV000113205 RCV000165157

NM_000059.4(BRCA2):c.3697G>A (p.Ala1233Thr)

SNV
Germline

Chr13:32338052

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
BRCA2-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA018594

rs_80358613

9 SubmittersRCV000113208 RCV000773261 RCV001319239 RCV002509189 RCV004528243 RCV004998147

NM_000059.4(BRCA2):c.3742A>C (p.Ser1248Arg)

SNV
Germline

Chr13:32338097

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA018688

rs_80358614

5 SubmittersRCV000113212 RCV001852936 RCV003156762

NM_000059.4(BRCA2):c.3749A>G (p.Glu1250Gly)

SNV
Germline

Chr13:32338104

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA018716

rs_56400215

10 SubmittersRCV000044256 RCV000113214 RCV000129769 RCV000212231 RCV001194411

NM_000059.4(BRCA2):c.375T>A (p.Asp125Glu)

SNV
Germline

Chr13:32325134

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA018731

rs_80358616

9 SubmittersRCV000113487 RCV000132463 RCV001318499 RCV000588594

NM_000059.4(BRCA2):c.3763G>T (p.Val1255Leu)

SNV
Germline

Chr13:32338118

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA018742

rs_80358617

5 SubmittersRCV000077312 RCV001021082 RCV001363809

NM_000059.4(BRCA2):c.3767A>C (p.His1256Pro)

SNV
Germline

Chr13:32338122

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Malignant tumor of breast
Condition: not provided
BRCA2-related cancer predisposition
not specified

Criteria Provided
Conflicting Classifications

CA018748

rs_80358618

11 SubmittersRCV000113216 RCV000561816 RCV001312276 RCV001355615 RCV002247431 RCV004803167 RCV005055546

NM_000059.4(BRCA2):c.3767A>G (p.His1256Arg)

SNV
Germline

Chr13:32338122

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Familial cancer of breast
Condition: not provided

Criteria Provided
Conflicting Classifications

CA018755

rs_80358618

10 SubmittersRCV000113217 RCV000575182 RCV001298086 RCV003607213 RCV004808567

NM_000059.4(BRCA2):c.3782C>G (p.Ser1261Cys)

SNV
Germline

Chr13:32338137

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA018805

rs_276174836

4 SubmittersRCV000113218 RCV001365576 RCV003156763 RCV005250003

NM_000059.4(BRCA2):c.3785C>G (p.Ser1262Ter)

SNV
Germline

Chr13:32338140

Pathogenic

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
BRCA2-related disorder
8 conditions
Familial cancer of breast
Inherited ovarian cancer (without breast cancer)

Reviewed By Expert Panel

CA018810

rs_80358620

21 SubmittersRCV000044266 RCV000113219 RCV000129108 RCV000481804 RCV001535648 RCV002490604 RCV003460575 RCV004782033

NM_000059.4(BRCA2):c.379G>T (p.Ala127Ser)

SNV
Germline

Chr13:32325138

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
BRCA2-related cancer predisposition
Condition: not provided

Criteria Provided
Conflicting Classifications

CA018828

rs_80358621

7 SubmittersRCV000077313 RCV000580114 RCV001318010 RCV004803168 RCV006258947

NM_000059.4(BRCA2):c.37G>T (p.Glu13Ter)

SNV
Germline

Chr13:32316497

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Reviewed By Expert Panel

CA018834

rs_80358622

13 SubmittersRCV000113040 RCV001382700 RCV002354227 RCV003321490

NM_000059.4(BRCA2):c.3814A>G (p.Met1272Val)

SNV
Germline

Chr13:32338169

Conflicting classifications of pathogenicity

not specified
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Malignant tumor of breast
Condition: not provided
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA018861

rs_80358624

14 SubmittersRCV000044271 RCV000083100 RCV000130732 RCV000203673 RCV001353829 RCV001703944 RCV004803169

NM_000059.4(BRCA2):c.3824T>C (p.Ile1275Thr)

SNV
Germline

Chr13:32338179

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Fanconi anemia complementation group D1
not specified
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA018880

rs_80358625

12 SubmittersRCV000044272 RCV000083101 RCV000132466 RCV000985512 RCV001112374 RCV002271387 RCV004803170

NM_000059.4(BRCA2):c.3835A>G (p.Asn1279Asp)

SNV
Germline

Chr13:32338190

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Hereditary breast ovarian cancer syndrome
8 conditions
Malignant tumor of breast
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA018891

rs_80358626

15 SubmittersRCV000077314 RCV000130851 RCV000221261 RCV000657036 RCV000709309 RCV000763886 RCV001353872 RCV004803171

NM_000059.4(BRCA2):c.383A>G (p.Asp128Gly)

SNV
Germline

Chr13:32325142

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA018912

rs_80358627

14 SubmittersRCV000044279 RCV000113501 RCV000131922 RCV000586960 RCV001175373 RCV003460577

NM_000059.4(BRCA2):c.3856A>G (p.Lys1286Glu)

SNV
Germline

Chr13:32338211

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA018967

rs_80358629

3 SubmittersRCV000113227 RCV001295751 RCV003156765

NM_000059.4(BRCA2):c.3863A>T (p.Asn1288Ile)

SNV
Germline

Chr13:32338218

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Breast and/or ovarian cancer
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA019007

rs_80358630

6 SubmittersRCV000044290 RCV000113231 RCV000735543 RCV001176137

NM_000059.4(BRCA2):c.3871C>T (p.Gln1291Ter)

SNV
Germline

Chr13:32338226

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Familial cancer of breast
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA019043

rs_80358631

7 SubmittersRCV000113234 RCV003473333 RCV003529932

NM_000059.4(BRCA2):c.3881T>A (p.Leu1294Ter)

SNV
Germline

Chr13:32338236

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Condition: not provided

Reviewed By Expert Panel

CA019063

rs_80358632

5 SubmittersRCV000113235 RCV001381531 RCV004696655

NM_000059.4(BRCA2):c.3893T>C (p.Ile1298Thr)

SNV
Germline

Chr13:32338248

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Familial cancer of breast
not specified

Criteria Provided
Conflicting Classifications

CA019075

rs_80358633

9 SubmittersRCV000113236 RCV000566464 RCV000985514 RCV001303991 RCV003147332 RCV004595902

NM_000059.4(BRCA2):c.3914T>C (p.Phe1305Ser)

SNV
Germline

Chr13:32338269

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA019159

rs_80358635

3 SubmittersRCV000113241 RCV003156767 RCV005089412

NM_000059.4(BRCA2):c.3917T>C (p.Val1306Ala)

SNV
Germline

Chr13:32338272

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA019180

rs_80358637

3 SubmittersRCV000113242 RCV001852938 RCV003156768

NM_000059.4(BRCA2):c.3938A>C (p.Tyr1313Ser)

SNV
Germline

Chr13:32338293

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Familial colorectal cancer type X

Criteria Provided
Conflicting Classifications

CA019228

rs_80358639

4 SubmittersRCV000113244 RCV001370201 RCV003156769 RCV005357308

NM_000059.4(BRCA2):c.3938A>G (p.Tyr1313Cys)

SNV
Germline

Chr13:32338293

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA019236

rs_80358639

3 SubmittersRCV000113245 RCV003156770 RCV005089413

NM_000059.4(BRCA2):c.3939C>A (p.Tyr1313Ter)

SNV
Germline

Chr13:32338294

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA019241

rs_80358641

5 SubmittersRCV000113246 RCV001383062 RCV002371860

NM_000059.4(BRCA2):c.3958G>T (p.Glu1320Ter)

SNV
Germline

Chr13:32338313

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA019267

rs_80358644

7 SubmittersRCV000113251 RCV000773262 RCV001382677

NM_000059.4(BRCA2):c.3962A>G (p.Asp1321Gly)

SNV
Germline

Chr13:32338317

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
Familial colorectal cancer type X

Criteria Provided
Conflicting Classifications

CA019277

rs_80358645

12 SubmittersRCV000113252 RCV000212233 RCV000571707 RCV001320562 RCV002267811 RCV005357309

NM_000059.4(BRCA2):c.3965A>C (p.Asn1322Thr)

SNV
Germline

Chr13:32338320

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Breast and/or ovarian cancer
not specified
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA019283

rs_80358646

12 SubmittersRCV000113253 RCV000165691 RCV000483586 RCV000770722 RCV000780038 RCV001325825

NM_000059.4(BRCA2):c.3966C>G (p.Asn1322Lys)

SNV
Germline

Chr13:32338321

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Hereditary breast ovarian cancer syndrome
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA019298

rs_80358647

10 SubmittersRCV000077317 RCV000572841 RCV000759607 RCV000781155 RCV001306019 RCV004803172

NM_000059.4(BRCA2):c.3967A>T (p.Lys1323Ter)

SNV
Germline

Chr13:32338322

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Familial cancer of breast
BRCA2-related cancer predisposition

Reviewed By Expert Panel

CA019306

rs_80358648

12 SubmittersRCV000113255 RCV000131094 RCV000485337 RCV001193724 RCV003473334 RCV004803173

NM_000059.4(BRCA2):c.3G>A (p.Met1Ile)

SNV
Germline

Chr13:32316463

Pathogenic

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Breast and/or ovarian cancer
Condition: not provided

Reviewed By Expert Panel

CA019362

rs_80358650

16 SubmittersRCV000044328 RCV000083102 RCV000162893 RCV001271035 RCV003237421

NM_000059.4(BRCA2):c.4001T>A (p.Leu1334Ter)

SNV
Germline

Chr13:32338356

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA019375

rs_80358652

5 SubmittersRCV000113257 RCV001804769

NM_000059.4(BRCA2):c.4039G>C (p.Val1347Leu)

SNV
Germline

Chr13:32338394

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA019421

rs_80358653

7 SubmittersRCV000113264 RCV000520753 RCV000570365 RCV001326562

NM_000059.4(BRCA2):c.4095T>A (p.Cys1365Ter)

SNV
Germline

Chr13:32338450

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Familial cancer of breast

Reviewed By Expert Panel

CA019517

rs_80358658

10 SubmittersRCV000113273 RCV000447449 RCV001383063 RCV002465497 RCV003460579

NM_000059.4(BRCA2):c.4111C>T (p.Gln1371Ter)

SNV
Germline/somatic

Chr13:32338466

Pathogenic

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 1
Malignant tumor of urinary bladder
Familial cancer of breast

Reviewed By Expert Panel

CA019545

rs_80358659

17 SubmittersRCV000044353 RCV000077320 RCV000131073 RCV000478066 RCV001310148 RCV003332099 RCV003473335

NM_000059.4(BRCA2):c.416T>C (p.Leu139Pro)

SNV
Germline

Chr13:32325175

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified

Criteria Provided
Conflicting Classifications

CA019660

rs_80358660

7 SubmittersRCV000113552 RCV000216759 RCV001308115 RCV004767038

NM_000059.4(BRCA2):c.4174G>A (p.Val1392Ile)

SNV
Germline

Chr13:32338529

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA019667

rs_80358661

9 SubmittersRCV000044367 RCV000113283 RCV000165447 RCV001575818

NM_000059.4(BRCA2):c.425G>T (p.Ser142Ile)

SNV
Germline

Chr13:32325184

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA019823

rs_397507713

9 SubmittersRCV000213168 RCV000521547 RCV000709287 RCV000988985

NM_000059.4(BRCA2):c.4285C>T (p.Gln1429Ter)

SNV
Germline

Chr13:32338640

Pathogenic

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Reviewed By Expert Panel

CA019916

rs_80358665

7 SubmittersRCV000044388 RCV000113290 RCV000219511 RCV003473338

NM_000059.4(BRCA2):c.4301A>T (p.Lys1434Ile)

SNV
Germline

Chr13:32338656

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA019939

rs_397507714

9 SubmittersRCV000044389 RCV000131680 RCV000506062 RCV001800339 RCV004803175

NM_000059.4(BRCA2):c.4315G>A (p.Ala1439Thr)

SNV
Germline

Chr13:32338670

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA019960

rs_80358666

12 SubmittersRCV000113292 RCV000129972 RCV000513615 RCV001295103 RCV004803176

NM_000059.4(BRCA2):c.4318A>G (p.Lys1440Glu)

SNV
Germline

Chr13:32338673

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA019972

rs_80358668

9 SubmittersRCV000113293 RCV000130424 RCV001249861

NM_000059.4(BRCA2):c.4319A>G (p.Lys1440Arg)

SNV
Germline

Chr13:32338674

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA019980

rs_80358669

8 SubmittersRCV000044394 RCV000113294 RCV000130008 RCV003237422

NM_000059.4(BRCA2):c.4325C>A (p.Ser1442Ter)

SNV
Germline

Chr13:32338680

Pathogenic

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary cancer-predisposing syndrome
not specified
Familial cancer of breast
BRCA2-related cancer predisposition

Reviewed By Expert Panel

CA019986

rs_80358670

13 SubmittersRCV000044395 RCV000113295 RCV000505839 RCV000510062 RCV001002014 RCV003473339 RCV004803177

NM_000059.4(BRCA2):c.4352A>G (p.Asp1451Gly)

SNV
Germline

Chr13:32338707

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA020025

rs_80358671

4 SubmittersRCV000044398 RCV000113298 RCV001022341

NM_000059.4(BRCA2):c.4372C>T (p.His1458Tyr)

SNV
Germline

Chr13:32338727

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA020050

rs_80358672

12 SubmittersRCV000044399 RCV000077323 RCV000216745 RCV000480609 RCV001175060 RCV002250512

NM_000059.4(BRCA2):c.439C>T (p.Gln147Ter)

SNV
Germline

Chr13:32326114

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Reviewed By Expert Panel

CA020093

rs_397507717

5 SubmittersRCV000241305 RCV001174632 RCV003372613 RCV003460581

NM_000059.4(BRCA2):c.442T>C (p.Cys148Arg)

SNV
Germline

Chr13:32326117

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA020175

rs_80358677

10 SubmittersRCV000044413 RCV000077325 RCV000214740 RCV000440751 RCV000985524 RCV003460582

NM_000059.4(BRCA2):c.4440T>G (p.Tyr1480Ter)

SNV
Germline

Chr13:32338795

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Genetic non-acquired premature ovarian failure
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA020187

rs_397507719

8 SubmittersRCV000225483 RCV000222409 RCV000770916 RCV001387952 RCV002326767

NM_000059.4(BRCA2):c.4483G>A (p.Val1495Ile)

SNV
Germline

Chr13:32338838

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA020274

rs_80358680

8 SubmittersRCV000113309 RCV000131290 RCV000212236 RCV001401014

NM_000059.4(BRCA2):c.449A>G (p.His150Arg)

SNV
Germline

Chr13:32326124

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2
BRCA2-related cancer predisposition
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA020291

rs_397507722

12 SubmittersRCV000044425 RCV000130685 RCV000499599 RCV000759616 RCV000663195 RCV004803181 RCV005364924

NM_000059.4(BRCA2):c.4513A>G (p.Thr1505Ala)

SNV
Germline

Chr13:32338868

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA020295

rs_80358682

10 SubmittersRCV000113310 RCV000569819 RCV000485977 RCV000766851 RCV001370442

NM_000059.4(BRCA2):c.4525C>T (p.Gln1509Ter)

SNV
Germline

Chr13:32338880

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Malignant tumor of pancreas
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Familial cancer of breast
BRCA2-related disorder

Reviewed By Expert Panel

CA020321

rs_80358683

11 SubmittersRCV000113311 RCV000677847 RCV000850058 RCV001284566 RCV001383065 RCV002250514 RCV004537193

NM_000059.4(BRCA2):c.4534C>T (p.Arg1512Cys)

SNV
Germline

Chr13:32338889

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Fanconi anemia complementation group D1
Ovarian cancer
not specified

Criteria Provided
Conflicting Classifications

CA020333

rs_80358684

18 SubmittersRCV000044428 RCV000113312 RCV000130950 RCV000755874 RCV001113729 RCV003153336 RCV003230379

NM_000059.4(BRCA2):c.4535G>A (p.Arg1512His)

SNV
Germline

Chr13:32338890

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
8 conditions
Malignant tumor of breast

Criteria Provided
Conflicting Classifications

CA020346

rs_80358685

11 SubmittersRCV000044429 RCV000113313 RCV000167383 RCV000481718 RCV000509510 RCV000763888 RCV001353969

NM_000059.4(BRCA2):c.4537G>A (p.Asp1513Asn)

SNV
Germline

Chr13:32338892

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA020363

rs_80358687

5 SubmittersRCV000113315 RCV000773264 RCV001367592 RCV004998148

NM_000059.4(BRCA2):c.4539T>A (p.Asp1513Glu)

SNV
Germline

Chr13:32338894

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA020372

rs_80358688

5 SubmittersRCV000113316 RCV002336168 RCV006461301

NM_000059.4(BRCA2):c.4547T>A (p.Ile1516Asn)

SNV
Germline

Chr13:32338902

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Breast and/or ovarian cancer
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA020395

rs_80358689

5 SubmittersRCV000113318 RCV000735550 RCV001317093 RCV002336169

NM_000059.4(BRCA2):c.4558A>G (p.Thr1520Ala)

SNV
Germline

Chr13:32338913

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA020437

rs_80358690

4 SubmittersRCV000113320 RCV000483594 RCV001316741 RCV003156775

NM_000059.4(BRCA2):c.455C>A (p.Thr152Lys)

SNV
Germline

Chr13:32326130

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA020444

rs_80358691

10 SubmittersRCV000113613 RCV000195370 RCV000213276 RCV000588748 RCV003235005

NM_000059.4(BRCA2):c.4588A>T (p.Lys1530Ter)

SNV
Germline

Chr13:32338943

Pathogenic

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
BRCA2-related cancer predisposition

Reviewed By Expert Panel

CA020499

rs_80358692

19 SubmittersRCV000044447 RCV000077329 RCV000162921 RCV000212238 RCV001762137 RCV004803183

NM_000059.4(BRCA2):c.4589A>G (p.Lys1530Arg)

SNV
Germline

Chr13:32338944

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA020502

rs_397507730

4 SubmittersRCV000218367 RCV001852940 RCV003335074

NM_000059.4(BRCA2):c.4599A>C (p.Lys1533Asn)

SNV
Germline

Chr13:32338954

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified
Breast neoplasm
Fanconi anemia complementation group D1
Condition: not provided
Malignant tumor of breast
Breast and/or ovarian cancer

Criteria Provided
Conflicting Classifications

CA020526

rs_80358694

17 SubmittersRCV000044452 RCV000077330 RCV000129285 RCV000212237 RCV000413529 RCV001109714 RCV001281727 RCV001353885 RCV003149681

NM_000059.4(BRCA2):c.4655G>T (p.Gly1552Val)

SNV
Germline

Chr13:32339010

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA020597

rs_80358696

7 SubmittersRCV000113327 RCV000759620 RCV001180083 RCV001373896

NM_000059.4(BRCA2):c.4658C>T (p.Thr1553Ile)

SNV
Germline

Chr13:32339013

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA020606

rs_80358697

6 SubmittersRCV000113329 RCV001305685 RCV003156777 RCV006439610

NM_000059.4(BRCA2):c.4662T>G (p.Ser1554Arg)

SNV
Germline

Chr13:32339017

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Breast and/or ovarian cancer
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA020611

rs_276174845

13 SubmittersRCV000077332 RCV000044465 RCV000166993 RCV000585939 RCV003492353 RCV004803184

NM_000059.4(BRCA2):c.467A>G (p.Asp156Gly)

SNV
Germline

Chr13:32326142

Conflicting classifications of pathogenicity

not specified
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
8 conditions
Hereditary cancer

Criteria Provided
Conflicting Classifications

CA020632

rs_68071147

21 SubmittersRCV000044468 RCV000077333 RCV000129132 RCV000167806 RCV001281728 RCV005007968 RCV005234949

NM_000059.4(BRCA2):c.4681C>A (p.His1561Asn)

SNV
Germline

Chr13:32339036

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified
Breast neoplasm
Familial cancer of breast
Condition: not provided
Breast and/or ovarian cancer

Criteria Provided
Conflicting Classifications

CA020637

rs_2219594

26 SubmittersRCV000044469 RCV000077334 RCV000128957 RCV000120328 RCV000414161 RCV000463461 RCV001705697 RCV003149682

NM_000059.4(BRCA2):c.4703A>G (p.Lys1568Arg)

SNV
Germline

Chr13:32339058

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
BRCA2-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA020687

rs_80358699

10 SubmittersRCV000113334 RCV000213170 RCV000256034 RCV001309223 RCV004542698 RCV006451911

NM_000059.4(BRCA2):c.4732T>G (p.Leu1578Val)

SNV
Germline

Chr13:32339087

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA020729

rs_80358700

3 SubmittersRCV000113339 RCV003156778 RCV003644870

NM_000059.4(BRCA2):c.473C>T (p.Ser158Leu)

SNV
Germline

Chr13:32326148

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Familial cancer of breast
Condition: not provided

Criteria Provided
Conflicting Classifications

CA020736

rs_80358701

8 SubmittersRCV000083109 RCV000219972 RCV001327463 RCV003460585 RCV006258949

NM_000059.4(BRCA2):c.475+1G>A

SNV
Germline

Chr13:32326151

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Gastric cancer
Condition: not provided

Reviewed By Expert Panel

CA020753

rs_81002797

11 SubmittersRCV000113644 RCV000709289 RCV002336170 RCV003162376 RCV003493422

NM_000059.4(BRCA2):c.475+1G>T

SNV
Germline

Chr13:32326151

Pathogenic

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
BRCA2-related disorder
Familial cancer of breast
Squamous cell lung carcinoma

Reviewed By Expert Panel

CA020757

rs_81002797

14 SubmittersRCV000044483 RCV000113645 RCV000162896 RCV000255387 RCV004528244 RCV003460586 RCV005890340

NM_000059.4(BRCA2):c.475+3A>G

SNV
Germline

Chr13:32326153

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA020761

rs_81002795

8 SubmittersRCV000258385 RCV000479466 RCV000772645 RCV001349387

NM_000059.4(BRCA2):c.475G>A (p.Val159Met)

SNV
Germline

Chr13:32326150

Pathogenic/Likely pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Carcinoma of pancreas
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA020781

rs_80358702

12 SubmittersRCV000113649 RCV000218417 RCV000236273 RCV001379120 RCV001391212 RCV003473347

NM_000059.4(BRCA2):c.4802A>G (p.Asp1601Gly)

SNV
Germline

Chr13:32339157

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA020852

rs_80358704

7 SubmittersRCV000044495 RCV000113344 RCV000572672 RCV001588864

NM_000059.4(BRCA2):c.4840A>G (p.Lys1614Glu)

SNV
Germline

Chr13:32339195

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA020896

rs_80358706

4 SubmittersRCV000113349 RCV000510015 RCV001325226

NM_000059.4(BRCA2):c.4849A>C (p.Ser1617Arg)

SNV
Germline

Chr13:32339204

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Hereditary breast ovarian cancer syndrome
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA020909

rs_80358707

9 SubmittersRCV000113351 RCV000165988 RCV000484473 RCV000780022 RCV001295742 RCV004803187

NM_000059.4(BRCA2):c.4854T>A (p.Asp1618Glu)

SNV
Germline

Chr13:32339209

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Hereditary breast ovarian cancer syndrome
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA020918

rs_80358708

14 SubmittersRCV000077339 RCV000222179 RCV000590643 RCV000479674 RCV001362264 RCV005357314

NM_000059.4(BRCA2):c.4856A>G (p.Asn1619Ser)

SNV
Germline

Chr13:32339211

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome
Condition: not provided
BRCA2-related disorder

Criteria Provided
Conflicting Classifications

CA020922

rs_80358709

11 SubmittersRCV000113352 RCV000773266 RCV000781110 RCV001313202 RCV001558036 RCV004537195

NM_000059.4(BRCA2):c.4859T>G (p.Leu1620Ter)

SNV
Germline

Chr13:32339214

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
BRCA2-related cancer predisposition
Inherited ovarian cancer (without breast cancer)

Reviewed By Expert Panel

CA020929

rs_80358710

11 SubmittersRCV000113353 RCV000496625 RCV000657631 RCV001525083 RCV005364925 RCV005252715

NM_000059.4(BRCA2):c.4889C>A (p.Ser1630Ter)

SNV
Germline

Chr13:32339244

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Familial cancer of breast
Condition: not provided
Familial prostate cancer
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA020952

rs_80358711

7 SubmittersRCV000257254 RCV001383850 RCV003460587 RCV003476926 RCV005357315 RCV004948154

NM_000059.4(BRCA2):c.4889C>G (p.Ser1630Ter)

SNV
Germline

Chr13:32339244

Pathogenic

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Inherited ovarian cancer (without breast cancer)
Breast-ovarian cancer, familial, susceptibility to, 1

Reviewed By Expert Panel

CA020955

rs_80358711

22 SubmittersRCV000044512 RCV000077340 RCV000131080 RCV000255089 RCV004566822 RCV005252716 RCV005861032

NM_000059.4(BRCA2):c.4894A>C (p.Ser1632Arg)

SNV
Germline

Chr13:32339249

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
8 conditions

Criteria Provided
Conflicting Classifications

CA020968

rs_80358712

9 SubmittersRCV000113354 RCV000164849 RCV000586217 RCV001372659 RCV005007970

NM_000059.4(BRCA2):c.4897A>G (p.Ile1633Val)

SNV
Germline

Chr13:32339252

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA020971

rs_80358713

8 SubmittersRCV000044516 RCV000113355 RCV001023214 RCV002277134 RCV004803188

NM_000059.4(BRCA2):c.4898T>A (p.Ile1633Asn)

SNV
Germline

Chr13:32339253

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA020974

rs_80358714

4 SubmittersRCV000113356 RCV000165405 RCV001347923

NM_000059.4(BRCA2):c.4901T>C (p.Phe1634Ser)

SNV
Germline

Chr13:32339256

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA020983

rs_80358715

12 SubmittersRCV000113357 RCV000166286 RCV000254744 RCV001463009

NM_000059.4(BRCA2):c.491T>A (p.Leu164Ter)

SNV
Germline

Chr13:32326257

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA021006

rs_80358717

4 SubmittersRCV000113680 RCV004018931 RCV006461302

NM_000059.4(BRCA2):c.4925A>C (p.Asn1642Thr)

SNV
Germline

Chr13:32339280

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA021014

rs_80358718

8 SubmittersRCV000083110 RCV000044522 RCV000570694 RCV001800341

NM_000059.4(BRCA2):c.4928T>C (p.Val1643Ala)

SNV
Germline

Chr13:32339283

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Malignant tumor of breast
not specified

Criteria Provided
Conflicting Classifications

CA021023

rs_28897731

17 SubmittersRCV000044524 RCV000077341 RCV000163029 RCV000416148 RCV001353540 RCV002307380

NM_000059.4(BRCA2):c.4954G>C (p.Ala1652Pro)

SNV
Germline

Chr13:32339309

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA021057

rs_80358720

3 SubmittersRCV000113362 RCV001294754 RCV003156779

NM_000059.4(BRCA2):c.4965C>A (p.Tyr1655Ter)

SNV
Germline

Chr13:32339320

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast
FLG-related disorder

Reviewed By Expert Panel

CA021066

rs_80358721

19 SubmittersRCV000083111 RCV000496256 RCV000758902 RCV001175640 RCV003460588 RCV004549478

NM_000059.4(BRCA2):c.5020A>G (p.Ser1674Gly)

SNV
Germline

Chr13:32339375

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
BRCA2-related disorder
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA021135

rs_80358725

16 SubmittersRCV000044539 RCV000113368 RCV000129669 RCV000218378 RCV000588519 RCV004732613 RCV005357316

NM_000059.4(BRCA2):c.5035A>C (p.Thr1679Pro)

SNV
Germline

Chr13:32339390

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA021160

rs_80358728

7 SubmittersRCV000113369 RCV000214875 RCV000586932 RCV001372940

NM_000059.4(BRCA2):c.5051C>G (p.Thr1684Ser)

SNV
Germline

Chr13:32339406

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
not specified
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA021184

rs_80358729

5 SubmittersRCV000113371 RCV000496558 RCV003156781 RCV005089414

NM_000059.4(BRCA2):c.5096A>G (p.Asp1699Gly)

SNV
Germline

Chr13:32339451

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA021240

rs_80358732

15 SubmittersRCV000044553 RCV000113377 RCV000130603 RCV000587656 RCV001175365 RCV004803189

NM_000059.4(BRCA2):c.5098G>A (p.Gly1700Ser)

SNV
Germline

Chr13:32339453

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA021242

rs_80358733

8 SubmittersRCV000044554 RCV000113378 RCV000221190 RCV000484596 RCV001778688

NM_000059.4(BRCA2):c.5101C>T (p.Gln1701Ter)

SNV
Germline

Chr13:32339456

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Reviewed By Expert Panel

CA021256

rs_397507758

10 SubmittersRCV000256540 RCV000500448 RCV000478939 RCV001310153 RCV002336174 RCV003473353

NM_000059.4(BRCA2):c.5104C>T (p.Pro1702Ser)

SNV
Germline

Chr13:32339459

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA021263

rs_80358734

6 SubmittersRCV000113379 RCV000214445 RCV001320852 RCV002477146

NM_000059.4(BRCA2):c.5107G>C (p.Glu1703Gln)

SNV
Germline

Chr13:32339462

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA021267

rs_80358735

4 SubmittersRCV000113380 RCV002345332 RCV002514195

NM_000059.4(BRCA2):c.5107G>T (p.Glu1703Ter)

SNV
Germline

Chr13:32339462

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA021274

rs_80358735

4 SubmittersRCV000113381 RCV000496356 RCV003298090

NM_000059.4(BRCA2):c.5113A>G (p.Ile1705Val)

SNV
Germline

Chr13:32339468

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA021283

rs_80358737

14 SubmittersRCV000083112 RCV000130471 RCV000217824 RCV001192530 RCV001348897

NM_000059.4(BRCA2):c.5119A>G (p.Thr1707Ala)

SNV
Germline

Chr13:32339474

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA021310

rs_80358738

4 SubmittersRCV000113383 RCV001795039 RCV002514196 RCV003156782

NM_000059.4(BRCA2):c.5159C>G (p.Ser1720Ter)

SNV
Germline

Chr13:32339514

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA021435

rs_80358740

4 SubmittersRCV000113390 RCV005089415

NM_000059.4(BRCA2):c.516+1G>A

SNV
Germline

Chr13:32326283

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA021479

rs_397507762

5 SubmittersRCV000258397 RCV000478432 RCV000563773 RCV000586303

NM_000059.4(BRCA2):c.516+1G>C

SNV
Germline

Chr13:32326283

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA021481

rs_397507762

5 SubmittersRCV000258169 RCV000509726 RCV000523730 RCV003529933

NM_000059.4(BRCA2):c.516+2T>A

SNV
Germline

Chr13:32326284

Pathogenic/Likely pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Multiple Submitters
No Conflicts

CA021489

rs_397507764

6 SubmittersRCV000258414 RCV001387342 RCV002336176 RCV004542699 RCV005861033

NM_000059.4(BRCA2):c.5167A>C (p.Thr1723Pro)

SNV
Germline

Chr13:32339522

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA021512

rs_80358742

4 SubmittersRCV000113391 RCV002514197 RCV003156783

NM_000059.4(BRCA2):c.5167A>G (p.Thr1723Ala)

SNV
Germline

Chr13:32339522

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Familial prostate cancer

Criteria Provided
Conflicting Classifications

CA021522

rs_80358742

15 SubmittersRCV000044582 RCV000113392 RCV000167513 RCV000221189 RCV000985538 RCV005357317

NM_000059.4(BRCA2):c.516G>A (p.Lys172=)

SNV
Germline

Chr13:32326282

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA021531

rs_80359790

13 SubmittersRCV000044583 RCV000113726 RCV001023653 RCV001284089 RCV004566823

NM_000059.4(BRCA2):c.517-1G>A

SNV
Germline

Chr13:32326498

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA021567

rs_81002849

8 SubmittersRCV000113730 RCV000131857 RCV000709290 RCV001588865 RCV003460589

NM_000059.4(BRCA2):c.517-2A>G

SNV
Germline

Chr13:32326497

Pathogenic

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Familial cancer of breast
BRCA2-related disorder
BRCA2-related cancer predisposition

Reviewed By Expert Panel

CA021578

rs_81002858

23 SubmittersRCV000044589 RCV000077347 RCV000162897 RCV000221055 RCV001171442 RCV003473357 RCV004732615 RCV004803191

NM_000059.4(BRCA2):c.517-4C>G

SNV
Germline

Chr13:32326495

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
not specified
Fanconi anemia complementation group D1
Hereditary breast ovarian cancer syndrome
Malignant tumor of breast
Inherited breast cancer and ovarian cancer

Criteria Provided
Conflicting Classifications

CA021589

rs_81002804

20 SubmittersRCV000044590 RCV000131488 RCV000113731 RCV000212206 RCV001111541 RCV001083460 RCV001355912 RCV004584182

NM_000059.4(BRCA2):c.5171T>C (p.Ile1724Thr)

SNV
Germline

Chr13:32339526

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
not specified
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Malignant tumor of breast

Criteria Provided
Conflicting Classifications

CA021569

rs_80358743

10 SubmittersRCV000044591 RCV000074534 RCV000113393 RCV000131403 RCV000985249 RCV001353973

NM_000059.4(BRCA2):c.517G>T (p.Gly173Cys)

SNV
Germline

Chr13:32326499

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA021603

rs_397507768

5 SubmittersRCV000239003 RCV000220016 RCV000506327 RCV001301980

NM_000059.4(BRCA2):c.5182G>A (p.Asp1728Asn)

SNV
Germline

Chr13:32339537

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
BRCA2-related disorder
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA021620

rs_80358744

7 SubmittersRCV000113395 RCV000220094 RCV001363319 RCV004732616 RCV004803192

NM_000059.4(BRCA2):c.5188A>T (p.Asn1730Tyr)

SNV
Germline

Chr13:32339543

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA021622

rs_397507770

4 SubmittersRCV000576951 RCV002336177 RCV002514198

NM_000059.4(BRCA2):c.518G>T (p.Gly173Val)

SNV
Germline

Chr13:32326500

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified

Criteria Provided
Conflicting Classifications

CA021632

rs_28897702

6 SubmittersRCV000044598 RCV000113738 RCV000213680 RCV004595903

NM_000059.4(BRCA2):c.5191C>A (p.His1731Asn)

SNV
Germline

Chr13:32339546

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Breast and/or ovarian cancer
not specified

Criteria Provided
Conflicting Classifications

CA021640

rs_80358745

13 SubmittersRCV000077348 RCV000167854 RCV000222021 RCV000586989 RCV003492354 RCV005406775

NM_000059.4(BRCA2):c.5217T>A (p.Tyr1739Ter)

SNV
Germline

Chr13:32339572

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA021745

rs_80358746

5 SubmittersRCV000113399 RCV001023745 RCV001390590

NM_000059.4(BRCA2):c.521G>A (p.Arg174His)

SNV
Germline

Chr13:32326503

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA021758

rs_80358747

9 SubmittersRCV000044616 RCV000083114 RCV000165821 RCV000427870 RCV000985540

NM_000059.4(BRCA2):c.5249C>T (p.Ser1750Phe)

SNV
Germline

Chr13:32339604

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA021849

rs_80358748

11 SubmittersRCV000044619 RCV000113410 RCV000130265 RCV000483481 RCV000766556 RCV005357318

NM_000059.4(BRCA2):c.5254C>T (p.His1752Tyr)

SNV
Germline

Chr13:32339609

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA021863

rs_80358749

5 SubmittersRCV000113411 RCV001363808 RCV003156784 RCV003476927

NM_000059.4(BRCA2):c.5272A>G (p.Asn1758Asp)

SNV
Germline

Chr13:32339627

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary cancer-predisposing syndrome
not specified
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA021918

rs_80358750

11 SubmittersRCV000044624 RCV000113413 RCV000589423 RCV000562802 RCV003387744 RCV004803193

NM_000059.4(BRCA2):c.5279C>G (p.Ser1760Ter)

SNV
Germline

Chr13:32339634

Pathogenic

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Familial cancer of breast
Inherited breast cancer and ovarian cancer

Reviewed By Expert Panel

CA021930

rs_80358751

15 SubmittersRCV000044625 RCV000131074 RCV000113414 RCV003476928 RCV003460591 RCV006277685

NM_000059.4(BRCA2):c.5282G>A (p.Gly1761Glu)

SNV
Germline

Chr13:32339637

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified

Criteria Provided
Conflicting Classifications

CA021937

rs_80358752

7 SubmittersRCV000083115 RCV000129736 RCV001342558 RCV001800344

NM_000059.4(BRCA2):c.5285A>C (p.Tyr1762Ser)

SNV
Germline

Chr13:32339640

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA021948

rs_80358753

8 SubmittersRCV000044627 RCV000113416 RCV000566469 RCV003237423

NM_000059.4(BRCA2):c.5286T>A (p.Tyr1762Ter)

SNV
Germline

Chr13:32339641

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA021955

rs_80358754

9 SubmittersRCV000113417 RCV000781162 RCV001689599 RCV002345333

NM_000059.4(BRCA2):c.5291C>G (p.Ser1764Ter)

SNV
Germline

Chr13:32339646

Pathogenic

Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA021968

rs_397507778

7 SubmittersRCV000577424 RCV000661753 RCV001023875 RCV001310157 RCV001390627

NM_000059.4(BRCA2):c.5342A>G (p.Asp1781Gly)

SNV
Germline

Chr13:32339697

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA022044

rs_80358756

8 SubmittersRCV000044635 RCV000113420 RCV000214135 RCV001753457

NM_000059.4(BRCA2):c.5344C>A (p.Gln1782Lys)

SNV
Germline

Chr13:32339699

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA022062

rs_80358757

11 SubmittersRCV000044636 RCV000113421 RCV000132498 RCV000421612 RCV001284428

NM_000059.4(BRCA2):c.5344C>T (p.Gln1782Ter)

SNV
Germline

Chr13:32339699

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast
8 conditions
BRCA2-related cancer predisposition

Reviewed By Expert Panel

CA022075

rs_80358757

11 SubmittersRCV000113422 RCV000496507 RCV003162380 RCV003473360 RCV005007972 RCV005357319

NM_000059.4(BRCA2):c.5390C>G (p.Ala1797Gly)

SNV
Germline

Chr13:32339745

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA022204

rs_80358760

16 SubmittersRCV000044649 RCV000113425 RCV000167078 RCV001284430 RCV006273078

NM_000059.4(BRCA2):c.539T>C (p.Ile180Thr)

SNV
Germline

Chr13:32326521

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Familial cancer of breast
not specified

Criteria Provided
Conflicting Classifications

CA022232

rs_80358761

9 SubmittersRCV000044650 RCV000074539 RCV000083116 RCV000132009 RCV001262281 RCV001582540

NM_000059.4(BRCA2):c.5404C>T (p.Gln1802Ter)

SNV
Germline

Chr13:32339759

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Reviewed By Expert Panel

CA022246

rs_80358763

8 SubmittersRCV000113426 RCV001381023 RCV001804771 RCV003460592

NM_000059.4(BRCA2):c.5405A>G (p.Gln1802Arg)

SNV
Germline

Chr13:32339760

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA022254

rs_80358764

9 SubmittersRCV000083117 RCV000478720 RCV000575899 RCV001349274

NM_000059.4(BRCA2):c.5414A>G (p.Asn1805Ser)

SNV
Germline

Chr13:32339769

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Fanconi anemia complementation group D1
Malignant tumor of breast
Familial cancer of breast
Inherited breast cancer and ovarian cancer

Criteria Provided
Conflicting Classifications

CA022277

rs_80358765

23 SubmittersRCV000044656 RCV000113427 RCV000131487 RCV000590661 RCV000855580 RCV001112467 RCV001358175 RCV003607214 RCV004584183

NM_000059.4(BRCA2):c.5428G>A (p.Val1810Ile)

SNV
Germline

Chr13:32339783

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Malignant tumor of breast
BRCA2-related disorder
Breast and/or ovarian cancer
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA022313

rs_80358766

18 SubmittersRCV000044658 RCV000077352 RCV000214539 RCV000219100 RCV000589093 RCV001353798 RCV003483453 RCV003492356 RCV004803194

NM_000059.4(BRCA2):c.5434G>T (p.Glu1812Ter)

SNV
Germline

Chr13:32339789

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA022320

rs_80358767

7 SubmittersRCV000113430 RCV000509828 RCV001174724

NM_000059.4(BRCA2):c.5471A>G (p.Asn1824Ser)

SNV
Germline

Chr13:32339826

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA022396

rs_80358769

4 SubmittersRCV000113435 RCV000571132 RCV001852942

NM_000059.4(BRCA2):c.5479A>G (p.Ile1827Val)

SNV
Germline

Chr13:32339834

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA022413

rs_80358770

11 SubmittersRCV000044669 RCV000113437 RCV000562248 RCV000482352 RCV005417448

NM_000059.4(BRCA2):c.5503A>G (p.Asn1835Asp)

SNV
Germline

Chr13:32339858

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
BRCA2-related disorder

Criteria Provided
Conflicting Classifications

CA022464

rs_80358771

11 SubmittersRCV000044672 RCV000113440 RCV000213098 RCV000220592 RCV001000851 RCV004537196

NM_000059.4(BRCA2):c.5505T>G (p.Asn1835Lys)

SNV
Germline

Chr13:32339860

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
not specified
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA022469

rs_80358772

4 SubmittersRCV000113441 RCV001192569 RCV001307973 RCV003156786

NM_000059.4(BRCA2):c.5507A>C (p.Asn1836Thr)

SNV
Germline

Chr13:32339862

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA022478

rs_80358773

4 SubmittersRCV000044674 RCV000113442 RCV002345334

NM_000059.4(BRCA2):c.5508T>G (p.Asn1836Lys)

SNV
Germline

Chr13:32339863

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA022483

rs_80358774

8 SubmittersRCV000044675 RCV000083119 RCV000130155 RCV001719796 RCV002468998

NM_000059.4(BRCA2):c.5569G>T (p.Glu1857Ter)

SNV
Germline

Chr13:32339924

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast and/or ovarian cancer

Reviewed By Expert Panel

CA022581

rs_80358778

8 SubmittersRCV000113444 RCV000496399 RCV002345335 RCV003492357

NM_000059.4(BRCA2):c.5596T>C (p.Phe1866Leu)

SNV
Germline

Chr13:32339951

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA022674

rs_80358779

9 SubmittersRCV000113447 RCV000165388 RCV000779923 RCV001284576 RCV001852943

NM_000059.4(BRCA2):c.5602G>T (p.Asp1868Tyr)

SNV
Germline

Chr13:32339957

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA022683

rs_80358781

5 SubmittersRCV000113448 RCV000129963 RCV001301982

NM_000059.4(BRCA2):c.5612G>A (p.Ser1871Asn)

SNV
Germline

Chr13:32339967

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Hereditary cancer

Criteria Provided
Conflicting Classifications

CA022703

rs_80358782

16 SubmittersRCV000044695 RCV000077355 RCV000130705 RCV000215831 RCV000588661 RCV003492358

NM_000059.4(BRCA2):c.5626G>T (p.Glu1876Ter)

SNV
Germline

Chr13:32339981

Pathogenic

Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA022743

rs_397507793

4 SubmittersRCV000129291 RCV000241406 RCV000657632 RCV002514199

NM_000059.4(BRCA2):c.5635G>A (p.Glu1879Lys)

SNV
Germline

Chr13:32339990

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
Fanconi anemia complementation group D1
Condition: not provided
BRCA2-related disorder

Criteria Provided
Conflicting Classifications

CA022780

rs_55996097

23 SubmittersRCV000077357 RCV000129072 RCV000167807 RCV000168580 RCV000336386 RCV000755862 RCV004542701

NM_000059.4(BRCA2):c.5651T>C (p.Ile1884Thr)

SNV
Germline

Chr13:32340006

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA022855

rs_80358788

5 SubmittersRCV000113453 RCV000216526 RCV001346339

NM_000059.4(BRCA2):c.5656C>T (p.Gln1886Ter)

SNV
Germline

Chr13:32340011

Pathogenic

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Breast and/or ovarian cancer
Familial cancer of breast
Inherited breast cancer and ovarian cancer

Reviewed By Expert Panel

CA022876

rs_80358790

15 SubmittersRCV000044710 RCV000113455 RCV000446276 RCV000480447 RCV000735570 RCV003460594 RCV006436415

NM_000059.4(BRCA2):c.5660C>T (p.Thr1887Met)

SNV
Germline

Chr13:32340015

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
not specified
Hereditary breast ovarian cancer syndrome
Condition: not provided
BRCA2-related cancer predisposition
BRCA2-related disorder
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA022886

rs_397507795

14 SubmittersRCV000129439 RCV000239329 RCV000507337 RCV001349262 RCV003318548 RCV004803863 RCV004542702 RCV005357321

NM_000059.4(BRCA2):c.5663A>G (p.Lys1888Arg)

SNV
Germline

Chr13:32340018

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Breast and/or ovarian cancer
not specified

Criteria Provided
Conflicting Classifications

CA022899

rs_80358791

13 SubmittersRCV000044713 RCV000113457 RCV000131719 RCV000216952 RCV000735571 RCV000779946

NM_000059.4(BRCA2):c.5665A>T (p.Ile1889Phe)

SNV
Germline

Chr13:32340020

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA022901

rs_80358792

4 SubmittersRCV000113458 RCV001297734 RCV003156787

NM_000059.4(BRCA2):c.5668A>G (p.Met1890Val)

SNV
Germline

Chr13:32340023

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA022911

rs_80358793

8 SubmittersRCV000113459 RCV000771296 RCV000779963 RCV001337165 RCV006449965

NM_000059.4(BRCA2):c.5669T>C (p.Met1890Thr)

SNV
Germline

Chr13:32340024

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA022917

rs_80358794

7 SubmittersRCV000113460 RCV000212242 RCV000574337 RCV001304999

NM_000059.4(BRCA2):c.5714A>G (p.His1905Arg)

SNV
Germline

Chr13:32340069

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA023030

rs_80358796

9 SubmittersRCV000044725 RCV000113466 RCV000130620 RCV000479143 RCV002281732

NM_000059.4(BRCA2):c.5726A>G (p.Asp1909Gly)

SNV
Germline

Chr13:32340081

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA023062

rs_80358798

7 SubmittersRCV000113471 RCV000213615 RCV000212243 RCV001346742

NM_000059.4(BRCA2):c.5729A>G (p.Asn1910Ser)

SNV
Germline

Chr13:32340084

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA023077

rs_276174863

7 SubmittersRCV000044733 RCV000113473 RCV000213160 RCV004767039

NM_000059.4(BRCA2):c.572A>G (p.Asp191Gly)

SNV
Germline

Chr13:32326554

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA023083

rs_397507798

3 SubmittersRCV000577576 RCV003162382 RCV004017342

NM_000059.4(BRCA2):c.572A>T (p.Asp191Val)

SNV
Germline

Chr13:32326554

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary breast ovarian cancer syndrome
Ovarian cancer

Criteria Provided
Conflicting Classifications

CA023086

rs_397507798

7 SubmittersRCV000129294 RCV000411982 RCV000486563 RCV001373010 RCV003153337

NM_000059.4(BRCA2):c.5734G>T (p.Glu1912Ter)

SNV
Germline

Chr13:32340089

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Familial prostate cancer

Reviewed By Expert Panel

CA023098

rs_397507800

5 SubmittersRCV000257767 RCV001388097 RCV002345337 RCV005357324

NM_000059.4(BRCA2):c.5741G>C (p.Ser1914Thr)

SNV
Germline

Chr13:32340096

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
BRCA2-related disorder

Criteria Provided
Conflicting Classifications

CA023125

rs_80358801

10 SubmittersRCV000044740 RCV000113474 RCV000217425 RCV000214177 RCV001000852 RCV004537197

NM_000059.4(BRCA2):c.575T>C (p.Met192Thr)

SNV
Germline

Chr13:32326557

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Familial cancer of breast
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA023166

rs_80358805

16 SubmittersRCV000074544 RCV000083120 RCV000219992 RCV000417374 RCV000985251 RCV003460595 RCV005357325

NM_000059.4(BRCA2):c.5773C>T (p.Gln1925Ter)

SNV
Germline

Chr13:32340128

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast

Reviewed By Expert Panel

CA023205

rs_80358806

9 SubmittersRCV000113482 RCV000496735 RCV000579768 RCV001353802 RCV003460596

NM_000059.4(BRCA2):c.5782G>A (p.Glu1928Lys)

SNV
Germline

Chr13:32340137

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA023218

rs_56253082

12 SubmittersRCV000044753 RCV000077360 RCV000164827 RCV000586545 RCV001705699 RCV004803864

NM_000059.4(BRCA2):c.5791C>T (p.Gln1931Ter)

SNV
Germline

Chr13:32340146

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
8 conditions
Hereditary breast ovarian cancer syndrome
Condition: not provided

Reviewed By Expert Panel

CA023241

rs_80358807

12 SubmittersRCV000077361 RCV000131105 RCV000763323 RCV001852944 RCV001723634

NM_000059.4(BRCA2):c.5804A>G (p.Asn1935Ser)

SNV
Germline

Chr13:32340159

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA023260

rs_80358808

7 SubmittersRCV000113486 RCV001024555 RCV001312775 RCV003325453

NM_000059.4(BRCA2):c.581G>A (p.Trp194Ter)

SNV
Germline

Chr13:32326563

Pathogenic

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Breast and/or ovarian cancer
Hereditary cancer-predisposing syndrome
8 conditions
8 conditions
BRCA2-related cancer predisposition

Reviewed By Expert Panel

CA023266

rs_80358809

18 SubmittersRCV000044763 RCV000077362 RCV000656583 RCV001798236 RCV002354232 RCV002477150 RCV004795971 RCV005357326

NM_000059.4(BRCA2):c.5836T>C (p.Ser1946Pro)

SNV
Germline

Chr13:32340191

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Condition: not provided
not specified
Familial cancer of breast
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA023287

rs_80358811

10 SubmittersRCV000129417 RCV000113490 RCV000416524 RCV000588442 RCV002228136 RCV002250516 RCV004803865

NM_000059.4(BRCA2):c.5839C>T (p.Pro1947Ser)

SNV
Germline

Chr13:32340194

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast and/or ovarian cancer
not specified
Condition: not provided
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA023289

rs_80358812

11 SubmittersRCV000113492 RCV000044772 RCV000132548 RCV000768631 RCV000781083 RCV000985552 RCV002250517

NM_000059.4(BRCA2):c.5857G>T (p.Glu1953Ter)

SNV
Germline

Chr13:32340212

Pathogenic

Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
BRCA2-related disorder
9 conditions
Breast and/or ovarian cancer
Malignant tumor of breast
Medulloblastoma
Familial cancer of breast
Wilms tumor 1
Prostate cancer

Reviewed By Expert Panel

CA023311

rs_80358814

34 SubmittersRCV000044775 RCV000077363 RCV000131117 RCV000195356 RCV000313209 RCV000515293 RCV000735575 RCV001353570 RCV001843470 RCV001843467 RCV001843468 RCV001843469

NM_000059.4(BRCA2):c.5864C>A (p.Ser1955Ter)

SNV
Germline

Chr13:32340219

Pathogenic

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Breast and/or ovarian cancer
Malignant tumor of breast
8 conditions
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 1

Reviewed By Expert Panel

CA023317

rs_80358815

27 SubmittersRCV000044777 RCV000077364 RCV000162927 RCV000221022 RCV000735576 RCV001353854 RCV002496691 RCV003473367 RCV005861035

NM_000059.4(BRCA2):c.5864C>G (p.Ser1955Ter)

SNV
Germline

Chr13:32340219

Pathogenic

Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary breast ovarian cancer syndrome
Familial cancer of breast

Reviewed By Expert Panel

CA023319

rs_80358815

8 SubmittersRCV000131666 RCV000241225 RCV000519321 RCV001386452 RCV003147334

NM_000059.4(BRCA2):c.5866G>C (p.Asp1956His)

SNV
Germline

Chr13:32340221

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA023321

rs_80358816

6 SubmittersRCV000113497 RCV002354233 RCV002514200 RCV005357327

NM_000059.4(BRCA2):c.5869A>G (p.Ile1957Val)

SNV
Germline

Chr13:32340224

Conflicting classifications of pathogenicity

not specified
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
BRCA2-related cancer predisposition
BRCA2-related disorder

Criteria Provided
Conflicting Classifications

CA023323

rs_80358817

15 SubmittersRCV000044780 RCV000113498 RCV000129497 RCV000203620 RCV000513016 RCV004803866 RCV004732617

NM_000059.4(BRCA2):c.5891A>G (p.Lys1964Arg)

SNV
Germline

Chr13:32340246

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA023341

rs_80358821

4 SubmittersRCV000113500 RCV000575475 RCV001367707

NM_000059.4(BRCA2):c.5925T>A (p.Cys1975Ter)

SNV
Germline

Chr13:32340280

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA023372

rs_80358825

4 SubmittersRCV000113503 RCV000574746 RCV001390628

NM_000059.4(BRCA2):c.5925T>G (p.Cys1975Trp)

SNV
Germline

Chr13:32340280

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA023374

rs_80358825

5 SubmittersRCV000113504 RCV002514201 RCV001024689

NM_000059.4(BRCA2):c.5939C>T (p.Thr1980Ile)

SNV
Germline

Chr13:32340294

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA023390

rs_80358827

8 SubmittersRCV000113506 RCV000565166 RCV001346088 RCV004691735

NM_000059.4(BRCA2):c.5959C>T (p.Gln1987Ter)

SNV
Germline

Chr13:32340314

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
8 conditions

Reviewed By Expert Panel

CA023417

rs_80358828

12 SubmittersRCV000113510 RCV000434288 RCV000567880 RCV000496769 RCV004795972

NM_000059.4(BRCA2):c.5972C>T (p.Ala1991Val)

SNV
Germline

Chr13:32340327

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Breast neoplasm
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA023438

rs_80358829

4 SubmittersRCV000113513 RCV000414292 RCV001857368 RCV003157308

NM_000059.4(BRCA2):c.5975C>T (p.Ser1992Leu)

SNV
Germline

Chr13:32340330

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
not specified
Hereditary cancer-predisposing syndrome
BRCA2-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA023440

rs_80358830

9 SubmittersRCV000044809 RCV000113514 RCV000236533 RCV000572935 RCV001535549 RCV003884341

NM_000059.4(BRCA2):c.5981A>G (p.Gln1994Arg)

SNV
Germline

Chr13:32340336

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA023444

rs_80358832

6 SubmittersRCV000113515 RCV000773142 RCV001344001

NM_000059.4(BRCA2):c.5986G>A (p.Ala1996Thr)

SNV
Germline

Chr13:32340341

Conflicting classifications of pathogenicity

not specified
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Fanconi anemia complementation group D1
Condition: not provided
BRCA2-related disorder
Familial pancreatic carcinoma

Criteria Provided
Conflicting Classifications

CA023455

rs_80358833

20 SubmittersRCV000044813 RCV000077366 RCV000129689 RCV000195331 RCV000318984 RCV000859013 RCV004537198 RCV005357328

NM_000059.4(BRCA2):c.5992C>T (p.Gln1998Ter)

SNV
Germline

Chr13:32340347

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA023471

rs_397507819

7 SubmittersRCV000257054 RCV000755860 RCV001024766 RCV001380760

NM_000059.4(BRCA2):c.5C>T (p.Pro2Leu)

SNV
Germline

Chr13:32316465

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA023494

rs_80358836

5 SubmittersRCV000113015 RCV001024782 RCV001347121 RCV004998151

NM_000059.4(BRCA2):c.6008T>C (p.Ile2003Thr)

SNV
Germline

Chr13:32340363

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA023504

rs_80358837

5 SubmittersRCV000044818 RCV000113519 RCV002354236 RCV006258951

NM_000059.4(BRCA2):c.6025C>T (p.Gln2009Ter)

SNV
Germline

Chr13:32340380

Pathogenic

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 1

Reviewed By Expert Panel

CA023540

rs_80358838

10 SubmittersRCV000044821 RCV000113520 RCV000213281 RCV000985555 RCV003473368 RCV004760359

NM_000059.4(BRCA2):c.6029T>G (p.Val2010Gly)

SNV
Germline

Chr13:32340384

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA023542

rs_80358839

11 SubmittersRCV000077367 RCV000129746 RCV000212246 RCV000709322

NM_000059.4(BRCA2):c.6037A>G (p.Lys2013Glu)

SNV
Germline

Chr13:32340392

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA023559

rs_80358840

9 SubmittersRCV000044826 RCV000083121 RCV000162633 RCV001174723 RCV004998152

NM_000059.4(BRCA2):c.6058G>T (p.Glu2020Ter)

SNV
Germline

Chr13:32340413

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA023579

rs_80358842

6 SubmittersRCV000257323 RCV001269721 RCV006461304

NM_000059.4(BRCA2):c.6065C>G (p.Ser2022Ter)

SNV
Germline

Chr13:32340420

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Malignant tumor of breast
Familial cancer of breast

Reviewed By Expert Panel

CA023591

rs_80358843

15 SubmittersRCV000113522 RCV000217928 RCV000429027 RCV000503943 RCV001353453 RCV003460597

NM_000059.4(BRCA2):c.6070C>T (p.Gln2024Ter)

SNV
Germline

Chr13:32340425

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Condition: not provided

Reviewed By Expert Panel

CA023597

rs_80358844

8 SubmittersRCV000113524 RCV000162929 RCV001310127 RCV001857369 RCV003237424

NM_000059.4(BRCA2):c.6071A>G (p.Gln2024Arg)

SNV
Germline

Chr13:32340426

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified

Criteria Provided
Conflicting Classifications

CA023602

rs_80358845

6 SubmittersRCV000044833 RCV000113525 RCV001182573 RCV002228137

NM_000059.4(BRCA2):c.6079A>G (p.Arg2027Gly)

SNV
Germline

Chr13:32340434

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA023620

rs_80358846

5 SubmittersRCV000113528 RCV001347126 RCV003157310 RCV004803867

NM_000059.4(BRCA2):c.6086A>G (p.Glu2029Gly)

SNV
Germline

Chr13:32340441

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA023636

rs_80358847

4 SubmittersRCV000113529 RCV003157311 RCV003529934

NM_000059.4(BRCA2):c.6099A>G (p.Ile2033Met)

SNV
Germline

Chr13:32340454

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
BRCA2-related disorder
BRCA2-related cancer predisposition
Condition: not provided

Criteria Provided
Conflicting Classifications

CA023650

rs_80358848

8 SubmittersRCV000113531 RCV000164759 RCV001309364 RCV004537199 RCV004803868 RCV004721252

NM_000059.4(BRCA2):c.6101G>A (p.Arg2034His)

SNV
Germline

Chr13:32340456

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
not specified
Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group D1
Condition: not provided
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA023655

rs_80358849

12 SubmittersRCV000083122 RCV000120341 RCV000166225 RCV001110580 RCV001529429 RCV001374119

NM_000059.4(BRCA2):c.6118A>T (p.Ile2040Leu)

SNV
Germline

Chr13:32340473

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA023672

rs_80358850

6 SubmittersRCV000044849 RCV000113534 RCV000129331 RCV003105784

NM_000059.4(BRCA2):c.6124C>T (p.Gln2042Ter)

SNV
Germline

Chr13:32340479

Pathogenic

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Reviewed By Expert Panel

CA023676

rs_80358851

14 SubmittersRCV000044850 RCV000077369 RCV000223048 RCV000563525 RCV003473370

NM_000059.4(BRCA2):c.6148G>A (p.Val2050Ile)

SNV
Germline

Chr13:32340503

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Breast neoplasm
Hereditary cancer-predisposing syndrome
8 conditions
not specified
Malignant tumor of breast
Hereditary breast ovarian cancer syndrome
Familial cancer of breast
Condition: not provided
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA023698

rs_80358854

14 SubmittersRCV000083123 RCV000240684 RCV000510133 RCV000763893 RCV001194410 RCV001354612 RCV001852947 RCV002250519 RCV003156222 RCV004803869

NM_000059.4(BRCA2):c.6160G>C (p.Ala2054Pro)

SNV
Germline

Chr13:32340515

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA023708

rs_80358855

4 SubmittersRCV000113538 RCV001300745 RCV003157312

NM_000059.4(BRCA2):c.6169G>T (p.Gly2057Ter)

SNV
Germline

Chr13:32340524

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA023712

rs_80358856

4 SubmittersRCV000113540 RCV006461305

NM_000059.4(BRCA2):c.6172T>A (p.Phe2058Ile)

SNV
Germline

Chr13:32340527

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Familial prostate cancer
Inherited ovarian cancer (without breast cancer)
Pilocytic astrocytoma

Criteria Provided
Conflicting Classifications

CA023714

rs_80358857

14 SubmittersRCV000044860 RCV000083124 RCV000129210 RCV000587108 RCV004700322 RCV005357329 RCV006436416 RCV006454649

NM_000059.4(BRCA2):c.619A>G (p.Thr207Ala)

SNV
Germline

Chr13:32326601

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified

Criteria Provided
Conflicting Classifications

CA023736

rs_80358858

5 SubmittersRCV000113897 RCV000167341 RCV001323584 RCV003330412

NM_000059.4(BRCA2):c.6212G>T (p.Ser2071Ile)

SNV
Germline

Chr13:32340567

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA023756

rs_80358861

4 SubmittersRCV000113548 RCV000215878 RCV001373292

NM_000059.4(BRCA2):c.6239T>G (p.Leu2080Ter)

SNV
Germline

Chr13:32340594

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA023781

rs_80358864

4 SubmittersRCV000113554 RCV002513646

NM_000059.4(BRCA2):c.623T>G (p.Val208Gly)

SNV
Germline

Chr13:32326605

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA023784

rs_80358865

8 SubmittersRCV000113900 RCV000166634 RCV000759636 RCV000781149 RCV001313427

NM_000059.4(BRCA2):c.6281A>G (p.Tyr2094Cys)

SNV
Germline

Chr13:32340636

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
not specified
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Fanconi anemia complementation group D1
Breast-ovarian cancer, familial, susceptibility to, 2
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA023819

rs_397507838

12 SubmittersRCV000083125 RCV000486364 RCV000580567 RCV000709324 RCV000759639 RCV003225719 RCV005364928

NM_000059.4(BRCA2):c.6293C>T (p.Ser2098Phe)

SNV
Germline

Chr13:32340648

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Malignant tumor of breast
Breast and/or ovarian cancer

Criteria Provided
Conflicting Classifications

CA023831

rs_80358867

12 SubmittersRCV000044890 RCV000113560 RCV000222689 RCV000656797 RCV001355427 RCV003149685

NM_000059.4(BRCA2):c.6296G>C (p.Arg2099Thr)

SNV
Germline

Chr13:32340651

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA023835

rs_80358868

6 SubmittersRCV000113561 RCV000708683 RCV001364048

NM_000059.4(BRCA2):c.6304G>T (p.Val2102Leu)

SNV
Germline

Chr13:32340659

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA023842

rs_80358869

8 SubmittersRCV000113563 RCV000485835 RCV000771297 RCV001320715

NM_000059.4(BRCA2):c.6308C>A (p.Ser2103Ter)

SNV
Germline

Chr13:32340663

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA023844

rs_80358870

13 SubmittersRCV000113564 RCV000217398 RCV000580026 RCV001390818

NM_000059.4(BRCA2):c.631+3A>G

SNV
Germline

Chr13:32326616

Pathogenic/Likely pathogenic

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA023855

rs_397507840

6 SubmittersRCV000044898 RCV000258233 RCV000575102 RCV004998153

NM_000059.4(BRCA2):c.631+4A>G

SNV
Germline

Chr13:32326617

Likely pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
BRCA2-related cancer predisposition

Reviewed By Expert Panel

CA023861

rs_397507841

6 SubmittersRCV000258315 RCV001379699 RCV002223776 RCV002362664 RCV005628788

NM_000059.4(BRCA2):c.6317T>C (p.Leu2106Pro)

SNV
Germline

Chr13:32340672

Conflicting classifications of pathogenicity

not specified
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Fanconi anemia complementation group D1
Condition: not provided
Breast and/or ovarian cancer
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA023867

rs_56172926

25 SubmittersRCV000044901 RCV000077370 RCV000131282 RCV001085349 RCV001112565 RCV001705700 RCV003492360 RCV004803870

NM_000059.4(BRCA2):c.631G>A (p.Val211Ile)

SNV
Germline

Chr13:32326613

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Breast and/or ovarian cancer
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA023869

rs_80358871

15 SubmittersRCV000113917 RCV000213157 RCV000214066 RCV000496306 RCV000735584 RCV003473372

NM_000059.4(BRCA2):c.632-1G>A

SNV
Germline

Chr13:32329442

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA023882

rs_81002820

7 SubmittersRCV000258249 RCV000503670 RCV001379700 RCV002362665

NM_000059.4(BRCA2):c.632-1G>T

SNV
Germline

Chr13:32329442

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA023888

rs_81002820

2 SubmittersRCV000509600 RCV001379689

NM_000059.4(BRCA2):c.632-2A>G

SNV
Germline

Chr13:32329441

Pathogenic

Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Familial cancer of breast

Reviewed By Expert Panel

CA023891

rs_397507842

10 SubmittersRCV000220032 RCV000258386 RCV001804772 RCV001387513 RCV003473373

NM_000059.4(BRCA2):c.6329A>C (p.Asp2110Ala)

SNV
Germline

Chr13:32340684

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA023917

rs_80358873

10 SubmittersRCV000113575 RCV000589920 RCV001316740 RCV002362666 RCV005357330

NM_000059.4(BRCA2):c.6359C>G (p.Ser2120Ter)

SNV
Germline

Chr13:32340714

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA023950

rs_397507845

6 SubmittersRCV000257199 RCV000520827 RCV000509973 RCV001382837

NM_000059.4(BRCA2):c.6362A>G (p.Glu2121Gly)

SNV
Germline

Chr13:32340717

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified
Malignant tumor of breast
Condition: not provided

Criteria Provided
Conflicting Classifications

CA023954

rs_397507846

10 SubmittersRCV000044924 RCV000083126 RCV000564377 RCV000428649 RCV001353733 RCV004998154

NM_000059.4(BRCA2):c.6403A>C (p.Asn2135His)

SNV
Germline

Chr13:32340758

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
not specified

Criteria Provided
Conflicting Classifications

CA023994

rs_80358876

9 SubmittersRCV000083127 RCV000044933 RCV000160110 RCV000165986 RCV001269229

NM_000059.4(BRCA2):c.6412G>T (p.Val2138Phe)

SNV
Germline

Chr13:32340767

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified
Fanconi anemia complementation group D1
Breast neoplasm
Condition: not provided
Breast and/or ovarian cancer
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA024008

rs_11571659

31 SubmittersRCV000044938 RCV000077373 RCV000128955 RCV000120342 RCV000311226 RCV000414271 RCV000656613 RCV003149687 RCV004803872

NM_000059.4(BRCA2):c.6413T>A (p.Val2138Asp)

SNV
Germline

Chr13:32340768

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA024010

rs_80358877

12 SubmittersRCV000113585 RCV000120349 RCV000223184 RCV000767077 RCV001421968 RCV004803873

NM_000059.4(BRCA2):c.6434A>G (p.Asn2145Ser)

SNV
Germline

Chr13:32340789

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA024030

rs_80358878

11 SubmittersRCV000044945 RCV000077374 RCV000165446 RCV000758928

NM_000059.4(BRCA2):c.6443C>A (p.Ser2148Tyr)

SNV
Germline

Chr13:32340798

Conflicting classifications of pathogenicity

Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Malignant tumor of breast
not specified

Criteria Provided
Conflicting Classifications

CA024042

rs_80358880

16 SubmittersRCV000044949 RCV000077375 RCV000130268 RCV001080402 RCV001353823 RCV001800348

NM_000059.4(BRCA2):c.6458C>T (p.Pro2153Leu)

SNV
Germline

Chr13:32340813

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Hereditary breast ovarian cancer syndrome
Familial cancer of breast
BRCA2-related disorder

Criteria Provided
Conflicting Classifications

CA024073

rs_276174873

14 SubmittersRCV000113594 RCV000131036 RCV000218559 RCV001193723 RCV001306721 RCV003607215 RCV004732618

NM_000059.4(BRCA2):c.6461A>C (p.Tyr2154Ser)

SNV
Germline

Chr13:32340816

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified

Criteria Provided
Conflicting Classifications

CA024077

rs_80358882

8 SubmittersRCV000113595 RCV000213967 RCV001365312 RCV005406776

NM_000059.4(BRCA2):c.6462T>G (p.Tyr2154Ter)

SNV
Germline

Chr13:32340817

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Reviewed By Expert Panel

CA024081

rs_80358883

5 SubmittersRCV000113596 RCV002362670 RCV003317058 RCV004589535

NM_000059.4(BRCA2):c.6469C>T (p.Gln2157Ter)

SNV
Germline

Chr13:32340824

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast carcinoma

Reviewed By Expert Panel

CA024090

rs_397507859

8 SubmittersRCV000241247 RCV000657633 RCV000772762 RCV001380430 RCV001646539

NM_000059.4(BRCA2):c.6490C>T (p.Gln2164Ter)

SNV
Germline/somatic

Chr13:32340845

Pathogenic

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Malignant tumor of urinary bladder
Condition: not provided

Reviewed By Expert Panel

CA024107

rs_397507860

7 SubmittersRCV000044968 RCV000241068 RCV000509627 RCV003332100 RCV004700323

NM_000059.4(BRCA2):c.652G>T (p.Glu218Ter)

SNV
Germline

Chr13:32329463

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Condition: not provided

Reviewed By Expert Panel

CA024134

rs_80358884

5 SubmittersRCV000077377 RCV000496596 RCV001568953

NM_000059.4(BRCA2):c.6532C>A (p.His2178Asn)

SNV
Germline

Chr13:32340887

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA024142

rs_80358885

7 SubmittersRCV000113604 RCV000709327 RCV003157314

NM_000059.4(BRCA2):c.6547G>T (p.Glu2183Ter)

SNV
Germline

Chr13:32340902

Pathogenic

Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Familial cancer of breast
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA024157

rs_397507866

7 SubmittersRCV000132475 RCV000241124 RCV001262869 RCV002514203

NM_000059.4(BRCA2):c.6550C>G (p.Gln2184Glu)

SNV
Germline

Chr13:32340905

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
not specified
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA024160

rs_80358887

14 SubmittersRCV000113608 RCV000129780 RCV000587939 RCV001085289 RCV001175370 RCV003607216

NM_000059.4(BRCA2):c.6557C>A (p.Ser2186Ter)

SNV
Germline

Chr13:32340912

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Reviewed By Expert Panel

CA024166

rs_397507867

9 SubmittersRCV000241520 RCV001025409 RCV001328339 RCV001529430

NM_000059.4(BRCA2):c.6568G>A (p.Val2190Ile)

SNV
Germline

Chr13:32340923

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA024184

rs_80358888

12 SubmittersRCV000077378 RCV000132273 RCV001355408 RCV001420959 RCV001500524

NM_000059.4(BRCA2):c.6613G>A (p.Val2205Met)

SNV
Germline

Chr13:32340968

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Breast and/or ovarian cancer
BRCA2-related cancer predisposition
not specified

Criteria Provided
Conflicting Classifications

CA024211

rs_80358889

16 SubmittersRCV000077379 RCV000195375 RCV000166043 RCV000588118 RCV000769700 RCV005357333 RCV006439612

NM_000059.4(BRCA2):c.6637T>C (p.Ser2213Pro)

SNV
Germline

Chr13:32340992

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
not specified
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA024236

rs_80358890

5 SubmittersRCV000113617 RCV001192646 RCV001304750 RCV002362672

NM_000059.4(BRCA2):c.6656C>G (p.Ser2219Ter)

SNV
Germline

Chr13:32341011

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
8 conditions
Condition: not provided
Malignant tumor of breast
BRCA2-related disorder
Familial cancer of breast

Reviewed By Expert Panel

CA024263

rs_80358893

18 SubmittersRCV000113622 RCV000447889 RCV000502225 RCV000763324 RCV000985568 RCV001353656 RCV001813752 RCV003473386

NM_000059.4(BRCA2):c.6665A>G (p.Tyr2222Cys)

SNV
Germline

Chr13:32341020

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA024271

rs_397507875

13 SubmittersRCV000045012 RCV000221087 RCV000410387 RCV000485026 RCV000759647

NM_000059.4(BRCA2):c.6683T>C (p.Val2228Ala)

SNV
Germline

Chr13:32341038

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA024288

rs_80358894

9 SubmittersRCV000045017 RCV000113629 RCV000166253 RCV000236365

NM_000059.4(BRCA2):c.6698C>A (p.Ala2233Asp)

SNV
Germline

Chr13:32341053

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA024306

rs_41293501

10 SubmittersRCV000045020 RCV000113630 RCV000165875 RCV000212250 RCV003323374

NM_000059.4(BRCA2):c.67+1G>A

SNV
Germline/somatic

Chr13:32316528

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Malignant tumor of urinary bladder
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Multiple Submitters
No Conflicts

CA024334

rs_81002796

14 SubmittersRCV000077381 RCV000218090 RCV000496390 RCV000510076 RCV003162384 RCV003332101 RCV005357334

NM_000059.4(BRCA2):c.67+1G>T

SNV
Germline

Chr13:32316528

Pathogenic

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 2

Reviewed By Expert Panel

CA024336

rs_81002796

15 SubmittersRCV000045022 RCV000077382 RCV000162894 RCV000505843 RCV004566829 RCV005357335

NM_000059.4(BRCA2):c.67+2T>A

SNV
Germline

Chr13:32316529

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome

Criteria Provided
Single Submitter

CA024344

rs_81002885

2 SubmittersRCV000113080 RCV003529937

NM_000059.4(BRCA2):c.67+2T>C

SNV
Germline

Chr13:32316529

Pathogenic

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Inherited breast cancer and ovarian cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA024346

rs_81002885

13 SubmittersRCV000045024 RCV000113081 RCV000985570 RCV005520222 RCV005620339 RCV006555386

NM_000059.4(BRCA2):c.6706G>A (p.Glu2236Lys)

SNV
Germline

Chr13:32341061

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
8 conditions
not specified
Fanconi anemia complementation group D1
Breast and/or ovarian cancer
BRCA2-related disorder
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA024312

rs_41293503

19 SubmittersRCV000083129 RCV000045026 RCV000165940 RCV000216299 RCV000763895 RCV000781142 RCV001109885 RCV003492361 RCV004732620 RCV004803875

NM_000059.4(BRCA2):c.6713A>G (p.Asp2238Gly)

SNV
Germline

Chr13:32341068

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Fanconi anemia complementation group D1
Hereditary breast ovarian cancer syndrome
Pancreatic cancer, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA024315

rs_80358895

11 SubmittersRCV000113631 RCV000130198 RCV000212251 RCV000656798 RCV001110667 RCV001351104 RCV005357336

NM_000059.4(BRCA2):c.6714T>G (p.Asp2238Glu)

SNV
Germline

Chr13:32341069

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Malignant tumor of breast

Criteria Provided
Conflicting Classifications

CA024319

rs_28897742

10 SubmittersRCV000113632 RCV000212252 RCV000218646 RCV001351921 RCV001356936

NM_000059.4(BRCA2):c.6715G>T (p.Glu2239Ter)

SNV
Germline

Chr13:32341070

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Familial cancer of breast
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA024321

rs_276174876

6 SubmittersRCV000113633 RCV003473387 RCV004799762 RCV002362674

NM_000059.4(BRCA2):c.6722C>T (p.Thr2241Ile)

SNV
Germline

Chr13:32341077

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA024338

rs_276174877

5 SubmittersRCV000113634 RCV000507446 RCV001852950 RCV003157316

NM_000059.4(BRCA2):c.673A>G (p.Thr225Ala)

SNV
Germline

Chr13:32329484

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA024361

rs_80358897

8 SubmittersRCV000114001 RCV000758933 RCV001317442 RCV002362675 RCV004566830

NM_000059.4(BRCA2):c.6741T>A (p.Ser2247Arg)

SNV
Germline

Chr13:32341096

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified

Criteria Provided
Conflicting Classifications

CA024363

rs_80358898

7 SubmittersRCV000045037 RCV000113635 RCV000773268 RCV002281733

NM_000059.4(BRCA2):c.6767G>A (p.Cys2256Tyr)

SNV
Germline

Chr13:32341122

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA024391

rs_80358900

5 SubmittersRCV000113640 RCV001301337 RCV003157317 RCV006258953

NM_000059.4(BRCA2):c.6768T>A (p.Cys2256Ter)

SNV
Germline

Chr13:32341123

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Breast and/or ovarian cancer
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA024394

rs_80358901

6 SubmittersRCV000113641 RCV000735590 RCV001193921

NM_000059.4(BRCA2):c.676A>G (p.Thr226Ala)

SNV
Germline

Chr13:32329487

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Breast and/or ovarian cancer
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA024396

rs_80358902

8 SubmittersRCV000083130 RCV000657115 RCV001025627 RCV001170222 RCV001304291

NM_000059.4(BRCA2):c.6770C>G (p.Pro2257Arg)

SNV
Germline

Chr13:32341125

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA024398

rs_80358903

9 SubmittersRCV000113642 RCV000574794 RCV000852300 RCV003476929 RCV004803878

NM_000059.4(BRCA2):c.6785T>G (p.Met2262Arg)

SNV
Germline

Chr13:32341140

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Fanconi anemia complementation group D1
Condition: not provided
not specified
Familial colorectal cancer type X

Criteria Provided
Conflicting Classifications

CA024407

rs_80358904

13 SubmittersRCV000077383 RCV000162802 RCV000225748 RCV001110668 RCV001284581 RCV001818218 RCV005357337

NM_000059.4(BRCA2):c.6796A>C (p.Asn2266His)

SNV
Germline

Chr13:32341151

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Malignant tumor of breast
Condition: not provided
Hereditary cancer-predisposing syndrome
Breast and/or ovarian cancer
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA024409

rs_80358905

10 SubmittersRCV000045048 RCV000113643 RCV000254921 RCV000766642 RCV001025653 RCV003492362 RCV004803879

NM_000059.4(BRCA2):c.6800C>A (p.Ser2267Ter)

SNV
Germline

Chr13:32341155

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Familial cancer of breast
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA024416

rs_377698594

4 SubmittersRCV000661662 RCV000577100 RCV001852951 RCV004601095

NM_000059.4(BRCA2):c.6803G>A (p.Arg2268Lys)

SNV
Germline

Chr13:32341158

Conflicting classifications of pathogenicity

not specified
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Malignant tumor of breast
Breast and/or ovarian cancer
BRCA2-related disorder

Criteria Provided
Conflicting Classifications

CA024418

rs_80358906

19 SubmittersRCV000045055 RCV000077385 RCV000131556 RCV000587611 RCV001086840 RCV001353618 RCV003492363 RCV004537201

NM_000059.4(BRCA2):c.681+4A>G

SNV
Germline

Chr13:32329496

Pathogenic/Likely pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA024432

rs_397507884

6 SubmittersRCV000258477 RCV000564042 RCV000589335 RCV004998155

NM_000059.4(BRCA2):c.682-1G>C

SNV
Germline

Chr13:32330918

Pathogenic/Likely pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA024456

rs_81002831

5 SubmittersRCV000114011 RCV000215277 RCV000496656 RCV000758938

NM_000059.4(BRCA2):c.6821G>T (p.Gly2274Val)

SNV
Germline

Chr13:32341176

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
not specified
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Breast and/or ovarian cancer
Fanconi anemia complementation group D1
Malignant tumor of breast
Condition: not provided
Familial cancer of breast
BRCA2-related disorder

Criteria Provided
Conflicting Classifications

CA024458

rs_55712212

30 SubmittersRCV000045064 RCV000074551 RCV000077387 RCV000131679 RCV000735591 RCV001110669 RCV001270288 RCV001200387 RCV002294006 RCV004528247

NM_000059.4(BRCA2):c.6826C>A (p.Pro2276Thr)

SNV
Germline

Chr13:32341181

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
8 conditions
Condition: not provided

Criteria Provided
Conflicting Classifications

CA024465

rs_80358907

8 SubmittersRCV000113653 RCV000569837 RCV001298105 RCV002496693 RCV004721253

NM_000059.4(BRCA2):c.6826C>T (p.Pro2276Ser)

SNV
Germline

Chr13:32341181

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified

Criteria Provided
Conflicting Classifications

CA024466

rs_80358907

5 SubmittersRCV000045067 RCV000113654 RCV000213626 RCV004700325

NM_000059.4(BRCA2):c.6842-11T>A

SNV
Germline

Chr13:32344547

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA024498

rs_81002877

5 SubmittersRCV000113663 RCV000582303 RCV001193203 RCV001484190 RCV003233098

NM_000059.4(BRCA2):c.6842-14A>G

SNV
Germline

Chr13:32344544

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
not specified
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA024500

rs_81002821

4 SubmittersRCV000113664 RCV000587823 RCV001417883 RCV003584519

NM_000059.4(BRCA2):c.6842G>T (p.Gly2281Val)

SNV
Germline

Chr13:32344558

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA024512

rs_80358908

7 SubmittersRCV000045078 RCV000113668 RCV000220896 RCV001284583 RCV001375610 RCV002288545

NM_000059.4(BRCA2):c.6847C>G (p.Pro2283Ala)

SNV
Germline

Chr13:32344563

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA024514

rs_80358909

11 SubmittersRCV000045079 RCV000077388 RCV000483877 RCV000565946 RCV003607217 RCV004803881

NM_000059.4(BRCA2):c.6871A>G (p.Asn2291Asp)

SNV
Germline

Chr13:32344587

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
BRCA2-related disorder

Criteria Provided
Conflicting Classifications

CA024527

rs_80358911

8 SubmittersRCV000113670 RCV000566275 RCV001460409 RCV001703947 RCV004537202

NM_000059.4(BRCA2):c.6877T>C (p.Phe2293Leu)

SNV
Germline

Chr13:32344593

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
8 conditions
not specified
BRCA2-related cancer predisposition
Familial prostate cancer

Criteria Provided
Conflicting Classifications

CA024533

rs_80358912

14 SubmittersRCV000045083 RCV000077389 RCV000132016 RCV000174215 RCV000765133 RCV000779926 RCV004803882 RCV005357338

NM_000059.4(BRCA2):c.6892G>A (p.Glu2298Lys)

SNV
Germline

Chr13:32344608

Conflicting classifications of pathogenicity

Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA024544

rs_80358914

11 SubmittersRCV000045085 RCV000083131 RCV000218893 RCV000433666 RCV001088946 RCV003460602

NM_000059.4(BRCA2):c.6938-2A>G

SNV
Germline

Chr13:32346825

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Breast and/or ovarian cancer
Hereditary breast ovarian cancer syndrome
BRCA2-related cancer predisposition

Reviewed By Expert Panel

CA024592

rs_81002863

11 SubmittersRCV000083132 RCV000479362 RCV000509741 RCV000735592 RCV000779943 RCV004803884

NM_000059.4(BRCA2):c.6943A>C (p.Ile2315Leu)

SNV
Germline

Chr13:32346832

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
not specified

Criteria Provided
Conflicting Classifications

CA024601

rs_80358918

10 SubmittersRCV000113675 RCV000130766 RCV000587113 RCV001345343 RCV003493423

NM_000059.4(BRCA2):c.6986C>T (p.Pro2329Leu)

SNV
Germline

Chr13:32346875

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Malignant tumor of breast
Breast and/or ovarian cancer
BRCA2-related cancer predisposition
not specified

Criteria Provided
Conflicting Classifications

CA024664

rs_80358925

13 SubmittersRCV000077392 RCV000167790 RCV000163085 RCV000586419 RCV001354293 RCV003492364 RCV004803886 RCV005437964

NM_000059.4(BRCA2):c.7007+1G>C

SNV
Germline

Chr13:32346897

Pathogenic/Likely pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Inherited breast cancer and ovarian cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA024701

rs_397507891

7 SubmittersRCV000258405 RCV000509748 RCV001171443 RCV001386967 RCV006439613

NM_000059.4(BRCA2):c.7007+1G>T

SNV
Germline

Chr13:32346897

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Multiple Submitters
No Conflicts

CA024704

rs_397507891

3 SubmittersRCV000482364 RCV001175443 RCV003234767

NM_000059.4(BRCA2):c.7007+5G>A

SNV
Germline

Chr13:32346901

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Breast and/or ovarian cancer
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA024707

rs_81002816

15 SubmittersRCV000077393 RCV000045110 RCV000167485 RCV000481869 RCV000735594 RCV001171444 RCV003473392

NM_000059.4(BRCA2):c.7007+5G>C

SNV
Germline

Chr13:32346901

Pathogenic/Likely pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA024710

rs_81002816

5 SubmittersRCV000113684 RCV001327861 RCV004948159

NM_000059.4(BRCA2):c.7007G>C (p.Arg2336Pro)

SNV
Germline

Chr13:32346896

Pathogenic/Likely pathogenic

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Fanconi anemia complementation group D1
Malignant tumor of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA024716

rs_28897743

19 SubmittersRCV000045113 RCV000077394 RCV000214499 RCV000256059 RCV000475905 RCV001171445 RCV001310135 RCV001269283 RCV001353724

NM_000059.4(BRCA2):c.7007G>T (p.Arg2336Leu)

SNV
Germline/somatic

Chr13:32346896

Pathogenic/Likely pathogenic

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA024720

rs_28897743

11 SubmittersRCV000045114 RCV000113685 RCV000219635 RCV000759653

NM_000059.4(BRCA2):c.7008-2A>G

SNV
Germline

Chr13:32354859

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Familial cancer of breast
Condition: not provided

Reviewed By Expert Panel

CA024734

rs_81002823

10 SubmittersRCV000113688 RCV000509699 RCV000496680 RCV003473393 RCV003476930

NM_000059.4(BRCA2):c.7008-2A>T

SNV
Germline

Chr13:32354859

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Breast and/or ovarian cancer
Familial cancer of breast

Reviewed By Expert Panel

CA024737

rs_81002823

14 SubmittersRCV000113689 RCV000220759 RCV000235662 RCV000504523 RCV000735596 RCV003147335

NM_000059.4(BRCA2):c.7024C>T (p.Gln2342Ter)

SNV
Germline

Chr13:32354877

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Familial cancer of breast
BRCA2-related cancer predisposition
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 2

Reviewed By Expert Panel

CA024765

rs_80358928

19 SubmittersRCV000077396 RCV000215667 RCV000496229 RCV000681960 RCV003473394 RCV004803889 RCV005357340

NM_000059.4(BRCA2):c.7040C>A (p.Pro2347Gln)

SNV
Germline

Chr13:32354893

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Familial cancer of breast
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA024783

rs_80358929

14 SubmittersRCV000045126 RCV000113695 RCV000167327 RCV000481408 RCV000657035 RCV004566833 RCV004803890

NM_000059.4(BRCA2):c.7051G>A (p.Ala2351Thr)

SNV
Germline

Chr13:32354904

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
not specified
9 conditions
Condition: not provided
8 conditions
Malignant tumor of breast
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA024798

rs_80358930

14 SubmittersRCV000045128 RCV000130893 RCV000113696 RCV000212257 RCV000515244 RCV000656801 RCV000765134 RCV001353685 RCV003607218

NM_000059.4(BRCA2):c.7055C>T (p.Pro2352Leu)

SNV
Germline

Chr13:32354908

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
8 conditions
Familial cancer of breast
not specified
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA024812

rs_80358934

16 SubmittersRCV000045131 RCV000113699 RCV000222667 RCV000588738 RCV002477151 RCV003460605 RCV003493424 RCV004803892

NM_000059.4(BRCA2):c.7060C>T (p.Gln2354Ter)

SNV
Germline

Chr13:32354913

Pathogenic

Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA024825

rs_80358936

11 SubmittersRCV000045134 RCV000113702 RCV000484770 RCV000496490 RCV000510038

NM_000059.4(BRCA2):c.707A>G (p.His236Arg)

SNV
Germline

Chr13:32330944

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Familial cancer of breast
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA024845

rs_80358938

7 SubmittersRCV000114055 RCV000566115 RCV001369134 RCV003460606 RCV005357341

NM_000059.4(BRCA2):c.7088A>G (p.Tyr2363Cys)

SNV
Germline

Chr13:32354941

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome
Condition: not provided
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA024851

rs_80358939

12 SubmittersRCV000113706 RCV000164874 RCV000779940 RCV001294891 RCV001564651 RCV002250520

NM_000059.4(BRCA2):c.7115C>G (p.Ser2372Ter)

SNV
Germline

Chr13:32354968

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast
BRCA2-related disorder

Reviewed By Expert Panel

CA024881

rs_80358943

11 SubmittersRCV000113711 RCV000657591 RCV001385695 RCV002362676 RCV003473395 RCV004528249

NM_000059.4(BRCA2):c.7180A>T (p.Arg2394Ter)

SNV
Germline

Chr13:32355033

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast

Reviewed By Expert Panel

CA024928

rs_80358946

16 SubmittersRCV000077398 RCV000045156 RCV000131033 RCV000985577 RCV003473397

NM_000059.4(BRCA2):c.71T>A (p.Leu24Ter)

SNV
Germline

Chr13:32319080

Pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA024957

rs_397507902

4 SubmittersRCV000583843 RCV000577511 RCV000661423 RCV001380573

NM_000059.4(BRCA2):c.7241C>G (p.Ser2414Ter)

SNV
Germline

Chr13:32355094

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA024987

rs_80358951

7 SubmittersRCV000113736 RCV000217367 RCV000482316 RCV001389019

NM_000059.4(BRCA2):c.7241C>T (p.Ser2414Leu)

SNV
Germline

Chr13:32355094

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA024989

rs_80358951

6 SubmittersRCV000113737 RCV000566196 RCV002054867 RCV004566835

NM_000059.4(BRCA2):c.7252A>G (p.Arg2418Gly)

SNV
Germline

Chr13:32355105

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA024996

rs_80358953

9 SubmittersRCV000045176 RCV000113740 RCV000163032 RCV000443470 RCV000586914

NM_000059.4(BRCA2):c.7261C>T (p.Gln2421Ter)

SNV
Germline

Chr13:32355114

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Condition: not provided
Inherited breast cancer and ovarian cancer

Reviewed By Expert Panel

CA025004

rs_397507908

7 SubmittersRCV000241497 RCV003529939 RCV003237425 RCV005859484

NM_000059.4(BRCA2):c.7301A>C (p.Lys2434Thr)

SNV
Germline

Chr13:32355154

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA025018

rs_80358954

11 SubmittersRCV000113743 RCV000212258 RCV000562219 RCV001314286 RCV001356899

NM_000059.4(BRCA2):c.7303C>T (p.Gln2435Ter)

SNV
Germline

Chr13:32355156

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Breast-ovarian cancer, familial, susceptibility to, 1
Inherited breast cancer and ovarian cancer
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA025020

rs_397507910

5 SubmittersRCV000257341 RCV001310175 RCV006439615 RCV006461310

NM_000059.4(BRCA2):c.7313A>G (p.Asp2438Gly)

SNV
Germline

Chr13:32355166

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified
Breast and/or ovarian cancer

Criteria Provided
Conflicting Classifications

CA025026

rs_80358957

10 SubmittersRCV000045186 RCV000113745 RCV000165902 RCV000435280 RCV003149689

NM_000059.4(BRCA2):c.733A>T (p.Arg245Ter)

SNV
Germline

Chr13:32330970

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Condition: not provided
BRCA2-related disorder
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA025035

rs_80358959

7 SubmittersRCV000114103 RCV001382892 RCV002460900 RCV004528251 RCV005402826

NM_000059.4(BRCA2):c.7375A>T (p.Lys2459Ter)

SNV
Germline

Chr13:32355228

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA025046

rs_397507913

4 SubmittersRCV000257076 RCV000570827 RCV001852954

NM_000059.4(BRCA2):c.7394C>T (p.Ala2465Val)

SNV
Germline

Chr13:32355247

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Hereditary cancer
not specified
Condition: not provided
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA025052

rs_80358960

10 SubmittersRCV000113750 RCV000564154 RCV001296258 RCV004700326 RCV004562232 RCV004998156 RCV005357344

NM_000059.4(BRCA2):c.740T>C (p.Ile247Thr)

SNV
Germline

Chr13:32330977

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA025060

rs_80358962

8 SubmittersRCV000045201 RCV000114112 RCV000220097 RCV004721254

NM_000059.4(BRCA2):c.7418G>A (p.Cys2473Tyr)

SNV
Germline

Chr13:32355271

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome
Condition: not provided
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA025072

rs_55924966

8 SubmittersRCV000113753 RCV000132080 RCV001192570 RCV001462591 RCV001284106 RCV004803895

NM_000059.4(BRCA2):c.742G>A (p.Ala248Thr)

SNV
Germline

Chr13:32330979

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Breast neoplasm
not specified
Condition: not provided
Hereditary breast ovarian cancer syndrome
Carcinoma of colon
Breast and/or ovarian cancer
BRCA2-related disorder

Criteria Provided
Conflicting Classifications

CA025077

rs_55854959

18 SubmittersRCV000114118 RCV000131381 RCV000148438 RCV000120387 RCV000586272 RCV001087231 RCV001355487 RCV001798238 RCV004732621

NM_000059.4(BRCA2):c.7435+10G>A

SNV
Germline

Chr13:32355298

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Fanconi anemia complementation group D1
not specified
Hereditary cancer-predisposing syndrome
BRCA2-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA025078

rs_81002793

9 SubmittersRCV000045210 RCV000113755 RCV000302479 RCV000426181 RCV000579409 RCV004542704 RCV006258954

NM_000059.4(BRCA2):c.7436-2A>T

SNV
Germline

Chr13:32356426

Pathogenic/Likely pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA025085

rs_397507917

6 SubmittersRCV000258319 RCV000588162 RCV001179861

NM_000059.4(BRCA2):c.7438T>G (p.Leu2480Val)

SNV
Germline

Chr13:32356430

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA025090

rs_80358965

8 SubmittersRCV000113759 RCV000167294 RCV001264546 RCV001326536 RCV001836723

NM_000059.4(BRCA2):c.7448G>A (p.Ser2483Asn)

SNV
Germline

Chr13:32356440

Conflicting classifications of pathogenicity

not specified
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA025094

rs_80358967

15 SubmittersRCV000045220 RCV000083134 RCV000129898 RCV000586632 RCV001082083 RCV004803896

NM_000059.4(BRCA2):c.7463G>A (p.Arg2488Lys)

SNV
Germline

Chr13:32356455

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA025097

rs_80358968

15 SubmittersRCV000077401 RCV000168600 RCV000563199 RCV001284108 RCV001410830

NM_000059.4(BRCA2):c.7464A>C (p.Arg2488Ser)

SNV
Germline

Chr13:32356456

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Fanconi anemia complementation group D1
Hereditary breast ovarian cancer syndrome
Familial cancer of breast
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA025098

rs_80358969

10 SubmittersRCV000113764 RCV000164219 RCV000759655 RCV001110755 RCV001305633 RCV004566836 RCV004803897

NM_000059.4(BRCA2):c.7471C>T (p.Gln2491Ter)

SNV
Germline/somatic

Chr13:32356463

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Malignant tumor of breast
Familial cancer of breast

Reviewed By Expert Panel

CA025106

rs_80358971

9 SubmittersRCV000113766 RCV000509717 RCV000496673 RCV001357153 RCV004566837

NM_000059.4(BRCA2):c.7481G>A (p.Arg2494Gln)

SNV
Germline

Chr13:32356473

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
not specified
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA025110

rs_80358973

11 SubmittersRCV000083135 RCV000164832 RCV000478347 RCV000709331 RCV001375523 RCV005357347

NM_000059.4(BRCA2):c.7484T>C (p.Ile2495Thr)

SNV
Germline

Chr13:32356476

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Breast and/or ovarian cancer
Condition: not provided
not specified
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA025112

rs_80358974

10 SubmittersRCV000077402 RCV000162811 RCV000478977 RCV000657023 RCV000779955 RCV001080469

NM_000059.4(BRCA2):c.7522G>A (p.Gly2508Ser)

SNV
Germline

Chr13:32356514

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
Breast neoplasm
Infiltrating duct carcinoma of breast
Ovarian cancer
Malignant tumor of pancreas
Hereditary breast ovarian cancer syndrome
Malignant tumor of breast
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA025130

rs_80358978

20 SubmittersRCV000077404 RCV000120359 RCV000164682 RCV000203651 RCV000240741 RCV000677860 RCV000677861 RCV000677862 RCV001084266 RCV001353972 RCV002250521

NM_000059.4(BRCA2):c.7558C>T (p.Arg2520Ter)

SNV
Germline

Chr13:32356550

Pathogenic

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Breast neoplasm
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Breast and/or ovarian cancer
Malignant tumor of breast
Familial cancer of breast
BRCA2-related cancer predisposition
Inherited breast cancer and ovarian cancer
Fanconi anemia complementation group D1
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA025146

rs_80358981

38 SubmittersRCV000045244 RCV000077405 RCV000148425 RCV000162645 RCV000210182 RCV000217859 RCV001170971 RCV001353932 RCV002250522 RCV004803898 RCV006605207 RCV005862749

NM_000059.4(BRCA2):c.7561A>G (p.Ile2521Val)

SNV
Germline

Chr13:32356553

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA025151

rs_80358983

3 SubmittersRCV000113776 RCV000219637 RCV001857374

NM_000059.4(BRCA2):c.7562T>C (p.Ile2521Thr)

SNV
Germline

Chr13:32356554

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified

Criteria Provided
Conflicting Classifications

CA025152

rs_80358984

6 SubmittersRCV000083137 RCV000572552 RCV002054868 RCV002267816

NM_000059.4(BRCA2):c.7583G>A (p.Gly2528Glu)

SNV
Germline

Chr13:32356575

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA025162

rs_80358986

5 SubmittersRCV000113777 RCV001191394 RCV003644872 RCV004998158

NM_000059.4(BRCA2):c.7610A>G (p.His2537Arg)

SNV
Germline

Chr13:32356602

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA025178

rs_80358988

5 SubmittersRCV000045257 RCV000113792 RCV000573982 RCV000759662 RCV002465499

NM_000059.4(BRCA2):c.7612A>T (p.Lys2538Ter)

SNV
Germline

Chr13:32356604

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA025180

rs_397507921

3 SubmittersRCV000257025 RCV001852955

NM_000059.4(BRCA2):c.7617+1G>A

SNV
Germline

Chr13:32356610

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast
BRCA2-related disorder

Reviewed By Expert Panel

CA025182

rs_397507922

18 SubmittersRCV000083138 RCV000045259 RCV000486153 RCV000579436 RCV003473403 RCV004724780

NM_000059.4(BRCA2):c.7617+1G>T

SNV
Germline

Chr13:32356610

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA025183

rs_397507922

15 SubmittersRCV000258277 RCV000585725 RCV001190945 RCV001264497

NM_000059.4(BRCA2):c.7617+2T>G

SNV
Germline

Chr13:32356611

Pathogenic

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary cancer-predisposing syndrome
8 conditions
Breast-ovarian cancer, familial, susceptibility to, 1

Reviewed By Expert Panel

CA025184

rs_81002843

14 SubmittersRCV000045261 RCV000113793 RCV001701586 RCV001804774 RCV002504935 RCV005861036

NM_000059.4(BRCA2):c.7617+4T>C

SNV
Germline

Chr13:32356613

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
BRCA2-related disorder

Criteria Provided
Conflicting Classifications

CA025185

rs_397507923

8 SubmittersRCV000045262 RCV000083139 RCV000130854 RCV000508569 RCV001675600 RCV004724781

NM_000059.4(BRCA2):c.7618-16T>G

SNV
Germline

Chr13:32357726

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
8 conditions

Criteria Provided
Conflicting Classifications

CA025187

rs_397507924

5 SubmittersRCV000235946 RCV000781058 RCV000771917 RCV001084315 RCV005007974

NM_000059.4(BRCA2):c.7618-1G>C

SNV
Germline

Chr13:32357741

Likely pathogenic

Familial cancer of breast
Hereditary breast ovarian cancer syndrome

Criteria Provided
Single Submitter

CA025189

rs_397507389

2 SubmittersRCV000576958 RCV004783735

NM_000059.4(BRCA2):c.7631G>A (p.Gly2544Asp)

SNV
Germline

Chr13:32357755

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA025201

rs_397507926

7 SubmittersRCV000045271 RCV000214936 RCV000483279 RCV002250523 RCV003493426

NM_000059.4(BRCA2):c.7633G>A (p.Val2545Ile)

SNV
Germline

Chr13:32357757

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA025202

rs_80358990

11 SubmittersRCV000045272 RCV000113799 RCV000130821 RCV000212262 RCV003607219 RCV004803899

NM_000059.4(BRCA2):c.7639A>G (p.Lys2547Glu)

SNV
Germline

Chr13:32357763

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA025207

rs_80358991

6 SubmittersRCV000113800 RCV000216129 RCV000985591 RCV001852956 RCV005357349

NM_000059.4(BRCA2):c.7681C>T (p.Gln2561Ter)

SNV
Germline

Chr13:32357805

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
not specified
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided

Reviewed By Expert Panel

CA025228

rs_80358994

12 SubmittersRCV000083140 RCV000507834 RCV000496838 RCV000773271 RCV003460612 RCV004719682

NM_000059.4(BRCA2):c.7696G>T (p.Asp2566Tyr)

SNV
Germline

Chr13:32357820

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified

Criteria Provided
Conflicting Classifications

CA025235

rs_80358996

4 SubmittersRCV000113806 RCV000574470 RCV001298239 RCV003330413

NM_000059.4(BRCA2):c.7712A>G (p.Glu2571Gly)

SNV
Germline

Chr13:32357836

Conflicting classifications of pathogenicity

Malignant tumor of breast
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
not specified
Breast and/or ovarian cancer

Criteria Provided
Conflicting Classifications

CA025242

rs_55689095

13 SubmittersRCV000045293 RCV000113807 RCV000130819 RCV000195380 RCV000590609 RCV001549278 RCV003492366

NM_000059.4(BRCA2):c.7721G>A (p.Trp2574Ter)

SNV
Germline

Chr13:32357845

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 2

Reviewed By Expert Panel

CA025247

rs_80358997

10 SubmittersRCV000077408 RCV000416519 RCV000657751 RCV001026755 RCV003473405 RCV005357350

NM_000059.4(BRCA2):c.772C>T (p.Gln258Ter)

SNV
Germline

Chr13:32331009

Pathogenic

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Reviewed By Expert Panel

CA025248

rs_80358998

9 SubmittersRCV000045296 RCV000077409 RCV000131846 RCV004566838

NM_000059.4(BRCA2):c.7738C>T (p.Gln2580Ter)

SNV
Germline

Chr13:32357862

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Reviewed By Expert Panel

CA025250

rs_80358999

10 SubmittersRCV000113809 RCV000496258 RCV004948160 RCV006273079

NM_000059.4(BRCA2):c.7751G>A (p.Gly2584Asp)

SNV
Germline

Chr13:32357875

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
not specified

Criteria Provided
Conflicting Classifications

CA025256

rs_80359001

8 SubmittersRCV000113811 RCV000131991 RCV000485049 RCV001371400 RCV002281734

NM_000059.4(BRCA2):c.7753G>A (p.Gly2585Arg)

SNV
Germline

Chr13:32357877

Likely pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
BRCA2-related cancer predisposition

Reviewed By Expert Panel

CA025257

rs_80359002

11 SubmittersRCV000113812 RCV000212263 RCV000773272 RCV001290191 RCV006258955

NM_000059.4(BRCA2):c.7757G>A (p.Trp2586Ter)

SNV
Germline

Chr13:32357881

Pathogenic

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Breast and/or ovarian cancer
Familial cancer of breast
BRCA2-related disorder
Inherited breast cancer and ovarian cancer

Reviewed By Expert Panel

CA025259

rs_80359003

21 SubmittersRCV000045302 RCV000077410 RCV000131087 RCV000215688 RCV000735604 RCV003460613 RCV004732622 RCV005644501

NM_000059.4(BRCA2):c.7766C>A (p.Pro2589His)

SNV
Germline

Chr13:32357890

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA025267

rs_80359005

5 SubmittersRCV000045308 RCV000083141 RCV000509978

NM_000059.4(BRCA2):c.7772A>G (p.Asn2591Ser)

SNV
Germline/somatic

Chr13:32357896

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Breast neoplasm
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified

Criteria Provided
Conflicting Classifications

CA025270

rs_80359006

8 SubmittersRCV000113816 RCV000240696 RCV000677097 RCV001341578 RCV002271389

NM_000059.4(BRCA2):c.7783G>T (p.Ala2595Ser)

SNV
Germline

Chr13:32357907

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
not specified
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA025273

rs_80359007

9 SubmittersRCV000113817 RCV000509610 RCV000985593 RCV001299396 RCV002468999 RCV004566839

NM_000059.4(BRCA2):c.7805+1G>A

SNV
Germline

Chr13:32357930

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA025280

rs_81002809

10 SubmittersRCV000077411 RCV000239169 RCV000573701 RCV003473406

NM_000059.4(BRCA2):c.7806-1G>T

SNV
Germline

Chr13:32362522

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA025288

rs_81002860

11 SubmittersRCV000113825 RCV000583733 RCV000779979 RCV001284586

NM_000059.4(BRCA2):c.7806-2A>G

SNV
Germline

Chr13:32362521

Pathogenic

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Ovarian neoplasm
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 1
Familial cancer of breast

Reviewed By Expert Panel

CA025289

rs_81002836

24 SubmittersRCV000045321 RCV000077414 RCV000131088 RCV000414989 RCV001281729 RCV001310176 RCV003473407

NM_000059.4(BRCA2):c.7806-9T>G

SNV
Germline/somatic

Chr13:32362514

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
not specified
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA025293

rs_397507939

5 SubmittersRCV000113827 RCV000496319 RCV003529940 RCV005520224

NM_000059.4(BRCA2):c.7819A>C (p.Thr2607Pro)

SNV
Germline

Chr13:32362536

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA025298

rs_80359008

3 SubmittersRCV000045325 RCV000113829 RCV002408543

NM_000059.4(BRCA2):c.7826G>A (p.Gly2609Asp)

SNV
Germline

Chr13:32362543

Pathogenic/Likely pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA025300

rs_80359009

8 SubmittersRCV000113831 RCV000500087 RCV001176367 RCV001353930

NM_000059.4(BRCA2):c.7832A>G (p.Asp2611Gly)

SNV
Germline

Chr13:32362549

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA025304

rs_80359010

10 SubmittersRCV000045327 RCV000113832 RCV000165314 RCV001762151

NM_000059.4(BRCA2):c.7856G>A (p.Trp2619Ter)

SNV
Germline

Chr13:32362573

Pathogenic

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Malignant tumor of breast
Condition: not provided

Reviewed By Expert Panel

CA025309

rs_397507941

6 SubmittersRCV000045330 RCV000241188 RCV001353959 RCV001529491

NM_000059.4(BRCA2):c.7879A>T (p.Ile2627Phe)

SNV
Germline

Chr13:32362596

Pathogenic

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
8 conditions
not specified
Familial cancer of breast
8 conditions
BRCA2-related cancer predisposition
Inherited breast cancer and ovarian cancer

Reviewed By Expert Panel

CA025321

rs_80359014

27 SubmittersRCV000045337 RCV000077415 RCV000131675 RCV000218666 RCV000763326 RCV001171395 RCV001289537 RCV005007975 RCV004566841 RCV006605208

NM_000059.4(BRCA2):c.7886G>A (p.Trp2629Ter)

SNV
Germline

Chr13:32362603

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
BRCA2-related cancer predisposition

Reviewed By Expert Panel

CA025323

rs_80359015

8 SubmittersRCV000113835 RCV001682746 RCV001382838 RCV005781918 RCV005357351

NM_000059.4(BRCA2):c.7908T>A (p.Cys2636Ter)

SNV
Germline

Chr13:32362625

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA025327

rs_80359016

6 SubmittersRCV000113836 RCV000496743

NM_000059.4(BRCA2):c.7915C>G (p.Pro2639Ala)

SNV
Germline

Chr13:32362632

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Familial cancer of breast
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA025334

rs_80359017

8 SubmittersRCV000113838 RCV000564997 RCV001363807 RCV003460614 RCV004803900

NM_000059.4(BRCA2):c.7928C>G (p.Ala2643Gly)

SNV
Germline

Chr13:32362645

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Hereditary cancer

Criteria Provided
Conflicting Classifications

CA025338

rs_80359018

14 SubmittersRCV000045344 RCV000077416 RCV000129050 RCV001284588 RCV002307382 RCV003492367

NM_000059.4(BRCA2):c.793+1G>A

SNV
Germline

Chr13:32331031

Pathogenic/Likely pathogenic

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA025342

rs_81002846

17 SubmittersRCV000045345 RCV000112827 RCV000239312 RCV000568255 RCV001310169 RCV003473409

NM_000059.4(BRCA2):c.793+1G>T

SNV
Germline

Chr13:32331031

Pathogenic/Likely pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA025343

rs_81002846

5 SubmittersRCV000112828 RCV001026969 RCV003644873

NM_000059.4(BRCA2):c.7931A>G (p.Asn2644Ser)

SNV
Germline

Chr13:32362648

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome
Condition: not provided
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA025341

rs_80359020

13 SubmittersRCV000077417 RCV000162644 RCV000501144 RCV001325093 RCV003159092 RCV004566842

NM_000059.4(BRCA2):c.7940T>C (p.Leu2647Pro)

SNV
Germline

Chr13:32362657

Pathogenic/Likely pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
BRCA2-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA025346

rs_80359021

10 SubmittersRCV000083142 RCV000162550 RCV000486997 RCV001379642 RCV004537206

NM_000059.4(BRCA2):c.7958T>C (p.Leu2653Pro)

SNV
Germline

Chr13:32362675

Pathogenic/Likely pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Breast and/or ovarian cancer
Hereditary breast ovarian cancer syndrome
BRCA2-related disorder
Familial cancer of breast
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Multiple Submitters
No Conflicts

CA025354

rs_80359022

14 SubmittersRCV000113844 RCV000505706 RCV000575206 RCV000770732 RCV001381193 RCV001824590 RCV003473411 RCV005357352

NM_000059.4(BRCA2):c.7961T>C (p.Leu2654Pro)

SNV
Germline

Chr13:32362678

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA025355

rs_80359023

6 SubmittersRCV000113845 RCV000575154 RCV001322453 RCV001550363

NM_000059.4(BRCA2):c.7964A>G (p.Gln2655Arg)

SNV
Germline

Chr13:32362681

Pathogenic/Likely pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Familial cancer of breast
Fanconi anemia

Criteria Provided
Multiple Submitters
No Conflicts

CA025358

rs_80359024

18 SubmittersRCV000113846 RCV000212265 RCV000510118 RCV001378206 RCV003460615 RCV005237472

NM_000059.4(BRCA2):c.7976+12G>A

SNV
Germline

Chr13:32362705

Conflicting classifications of pathogenicity

not specified
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Fanconi anemia complementation group D1
Malignant tumor of breast
Breast and/or ovarian cancer

Criteria Provided
Conflicting Classifications

CA025363

rs_81002827

13 SubmittersRCV000045362 RCV000113847 RCV000129688 RCV000195308 RCV000293235 RCV001353771 RCV003492368

NM_000059.4(BRCA2):c.7976+1G>A

SNV
Germline/somatic

Chr13:32362694

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA025364

rs_81002873

11 SubmittersRCV000077419 RCV000131083 RCV000235799 RCV001388428

NM_000059.4(BRCA2):c.7978T>G (p.Tyr2660Asp)

SNV
Germline

Chr13:32363180

Pathogenic/Likely pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA025377

rs_80359029

6 SubmittersRCV000077420 RCV000480484 RCV000773273 RCV001386986

NM_000059.4(BRCA2):c.7987G>A (p.Glu2663Lys)

SNV
Germline

Chr13:32363189

Pathogenic/Likely pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Malignant tumor of breast
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA025384

rs_80359030

10 SubmittersRCV000077421 RCV000163114 RCV001324234 RCV001354518 RCV001811313

NM_000059.4(BRCA2):c.7988A>T (p.Glu2663Val)

SNV
Germline

Chr13:32363190

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
8 conditions
Breast and/or ovarian cancer
not specified
Familial cancer of breast
Inherited breast cancer and ovarian cancer
Inherited ovarian cancer (without breast cancer)

Reviewed By Expert Panel

CA025385

rs_80359031

29 SubmittersRCV000077422 RCV000163034 RCV000257984 RCV000484277 RCV000763327 RCV000735605 RCV001001328 RCV003460616 RCV006461311 RCV005416028

NM_000059.4(BRCA2):c.7997G>C (p.Arg2666Thr)

SNV
Germline

Chr13:32363199

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided

Criteria Provided
Conflicting Classifications

CA025392

rs_80359033

6 SubmittersRCV000045380 RCV000113854 RCV000561371 RCV004566843 RCV005229864

NM_000059.4(BRCA2):c.79A>G (p.Ile27Val)

SNV
Germline

Chr13:32319088

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Malignant tumor of breast
Familial cancer of breast
not specified
BRCA2-related disorder
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA025394

rs_80359034

14 SubmittersRCV000113106 RCV000164869 RCV000499803 RCV001344985 RCV001358408 RCV003473412 RCV003993776 RCV004732624 RCV004803902

NM_000059.4(BRCA2):c.8002A>T (p.Arg2668Ter)

SNV
Germline

Chr13:32363204

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 1

Reviewed By Expert Panel

CA025396

rs_276174900

11 SubmittersRCV000113855 RCV000503440 RCV000569144 RCV000585730 RCV000657634 RCV001310177

NM_000059.4(BRCA2):c.8009C>A (p.Ser2670Ter)

SNV
Germline

Chr13:32363211

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA025400

rs_80359035

7 SubmittersRCV000239017 RCV000496340 RCV000569299

NM_000059.4(BRCA2):c.8009C>T (p.Ser2670Leu)

SNV
Germline

Chr13:32363211

Pathogenic/Likely pathogenic

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 1
not specified
Malignant tumor of breast
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Familial cancer of breast
8 conditions
BRCA2-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA025401

rs_80359035

23 SubmittersRCV000045385 RCV000077423 RCV000131082 RCV000212267 RCV000409052 RCV000496611 RCV001270290 RCV001171451 RCV001762153 RCV002504936 RCV004732625

NM_000059.4(BRCA2):c.800G>A (p.Gly267Glu)

SNV
Germline

Chr13:32332278

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Breast and/or ovarian cancer

Criteria Provided
Conflicting Classifications

CA025402

rs_80359036

14 SubmittersRCV000045386 RCV000112833 RCV000164234 RCV000589465 RCV001280539 RCV003492369

NM_000059.4(BRCA2):c.8023A>G (p.Ile2675Val)

SNV
Germline

Chr13:32363225

Pathogenic

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
8 conditions
Familial cancer of breast
Gastric cancer
BRCA2-related cancer predisposition

Reviewed By Expert Panel

CA025410

rs_397507954

19 SubmittersRCV000045390 RCV000132001 RCV000258421 RCV001550183 RCV002483046 RCV002272041 RCV003162386 RCV004566845

NM_000059.4(BRCA2):c.8032A>G (p.Arg2678Gly)

SNV
Germline

Chr13:32363234

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA025414

rs_80359039

8 SubmittersRCV000045394 RCV000077424 RCV000496893 RCV000572606 RCV001588866 RCV004566846

NM_000059.4(BRCA2):c.8036A>G (p.Asp2679Gly)

SNV
Germline

Chr13:32363238

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
BRCA2-related disorder
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA025417

rs_80359041

13 SubmittersRCV000045397 RCV000113859 RCV000131797 RCV000484310 RCV000759667 RCV004732626 RCV004803903

NM_000059.4(BRCA2):c.8039A>G (p.Asp2680Gly)

SNV
Germline

Chr13:32363241

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
not specified
Hereditary cancer-predisposing syndrome
Inherited ovarian cancer (without breast cancer)
Familial pancreatic carcinoma

Criteria Provided
Conflicting Classifications

CA025418

rs_80359042

8 SubmittersRCV000113860 RCV001317869 RCV001818220 RCV002408544 RCV005055063 RCV005357353

NM_000059.4(BRCA2):c.8051A>G (p.Lys2684Arg)

SNV
Germline

Chr13:32363253

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Malignant tumor of breast
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA025421

rs_80359043

11 SubmittersRCV000045401 RCV000077426 RCV000132517 RCV000759668 RCV001356800 RCV004803904

NM_000059.4(BRCA2):c.8057T>C (p.Leu2686Pro)

SNV
Germline

Chr13:32363259

Pathogenic/Likely pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA025427

rs_28897746

8 SubmittersRCV000113861 RCV000479056 RCV000568548 RCV001264563

NM_000059.4(BRCA2):c.8067T>A (p.Cys2689Ter)

SNV
Germline

Chr13:32363269

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
BRCA2-related cancer predisposition

Reviewed By Expert Panel

CA025435

rs_80359046

18 SubmittersRCV000113864 RCV000416520 RCV000571445 RCV000657589 RCV003473414 RCV005357354

NM_000059.4(BRCA2):c.8072C>T (p.Ser2691Phe)

SNV
Germline

Chr13:32363274

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Inherited breast cancer and ovarian cancer

Criteria Provided
Conflicting Classifications

CA025440

rs_80359047

4 SubmittersRCV000045414 RCV000113867 RCV004696658 RCV006605209

NM_000059.4(BRCA2):c.8084C>T (p.Ser2695Leu)

SNV
Germline

Chr13:32363286

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA025444

rs_80359048

9 SubmittersRCV000113869 RCV000509622 RCV001371246 RCV001703948 RCV002307383

NM_000059.4(BRCA2):c.8087T>A (p.Leu2696Ter)

SNV
Germline

Chr13:32363289

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Familial cancer of breast
Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA025447

rs_80359050

7 SubmittersRCV000113870 RCV000585696 RCV002274907 RCV002514211 RCV003343621

NM_000059.4(BRCA2):c.8090G>A (p.Ser2697Asn)

SNV
Germline

Chr13:32363292

Conflicting classifications of pathogenicity

not specified
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Breast and/or ovarian cancer
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA025449

rs_80359051

20 SubmittersRCV000045420 RCV000083143 RCV000129422 RCV000203629 RCV001081007 RCV001798239 RCV001762154

NM_000059.4(BRCA2):c.8098A>C (p.Ile2700Leu)

SNV
Germline

Chr13:32363300

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA025452

rs_80359053

12 SubmittersRCV000077427 RCV000130878 RCV000195382 RCV000588136 RCV004803906

NM_000059.4(BRCA2):c.809C>G (p.Ser270Ter)

SNV
Germline

Chr13:32332287

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA025454

rs_276174902

6 SubmittersRCV000112846 RCV001027170 RCV001390076

NM_000059.4(BRCA2):c.8111C>T (p.Ser2704Phe)

SNV
Germline

Chr13:32363313

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Breast neoplasm
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
not specified

Criteria Provided
Conflicting Classifications

CA025457

rs_80359054

16 SubmittersRCV000113873 RCV000148440 RCV000166944 RCV000486644 RCV001084853 RCV001818221

NM_000059.4(BRCA2):c.8134G>A (p.Asp2712Asn)

SNV
Germline

Chr13:32363336

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
BRCA2-related cancer predisposition
8 conditions

Criteria Provided
Conflicting Classifications

CA025466

rs_80359056

16 SubmittersRCV000045427 RCV000083144 RCV000130697 RCV000218294 RCV003993777 RCV004803907 RCV005007976

NM_000059.4(BRCA2):c.8135A>T (p.Asp2712Val)

SNV
Germline

Chr13:32363337

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA025467

rs_80359057

10 SubmittersRCV000045428 RCV000077428 RCV000130071 RCV000236985 RCV004566847

NM_000059.4(BRCA2):c.8140C>T (p.Gln2714Ter)

SNV
Germline/somatic

Chr13:32363342

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Gastric cancer
Malignant tumor of urinary bladder

Reviewed By Expert Panel

CA025469

rs_80359058

6 SubmittersRCV000113875 RCV001380788 RCV003162388 RCV003332102

NM_000059.4(BRCA2):c.8141A>G (p.Gln2714Arg)

SNV
Germline

Chr13:32363343

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA025470

rs_80359059

10 SubmittersRCV000045430 RCV000113876 RCV000129843 RCV000212270 RCV000781082 RCV004803908

NM_000059.4(BRCA2):c.8162T>A (p.Leu2721His)

SNV
Germline

Chr13:32363364

Likely pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
BRCA2-related cancer predisposition
Condition: not provided

Reviewed By Expert Panel

CA025477

rs_80359061

7 SubmittersRCV000113878 RCV000223648 RCV001290195 RCV006276056 RCV006258956

NM_000059.4(BRCA2):c.8167G>C (p.Asp2723His)

SNV
Germline

Chr13:32363369

Pathogenic

Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
8 conditions
Breast and/or ovarian cancer
Malignant tumor of breast
Carcinoma of pancreas
Familial cancer of breast
BRCA2-related disorder
Inherited breast cancer and ovarian cancer

Reviewed By Expert Panel

CA025482

rs_41293511

35 SubmittersRCV000045436 RCV000074555 RCV000077429 RCV000131674 RCV000763328 RCV001170973 RCV001353843 RCV001391219 RCV003473415 RCV004537207 RCV006277688

NM_000059.4(BRCA2):c.8168A>C (p.Asp2723Ala)

SNV
Germline

Chr13:32363370

Pathogenic

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary cancer-predisposing syndrome
BRCA2-related cancer predisposition

Reviewed By Expert Panel

CA025483

rs_41293513

9 SubmittersRCV000045437 RCV000113879 RCV000200976 RCV000218818 RCV004566848

NM_000059.4(BRCA2):c.8171G>T (p.Gly2724Val)

SNV
Germline

Chr13:32363373

Likely pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA025486

rs_80359063

3 SubmittersRCV000113881 RCV000560980 RCV003644874

NM_000059.4(BRCA2):c.8175G>A (p.Trp2725Ter)

SNV
Germline

Chr13:32363377

Pathogenic

Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 2
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA025490

rs_397507965

6 SubmittersRCV000577692 RCV000661848 RCV001310180 RCV001382382 RCV002426595

NM_000059.4(BRCA2):c.8177A>G (p.Tyr2726Cys)

SNV
Germline

Chr13:32363379

Pathogenic/Likely pathogenic

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
BRCA2-related cancer predisposition

Criteria Provided
Multiple Submitters
No Conflicts

CA025491

rs_80359064

16 SubmittersRCV000045442 RCV000077430 RCV000130671 RCV000212271 RCV003473416 RCV004803909

NM_000059.4(BRCA2):c.8182G>C (p.Val2728Leu)

SNV
Germline

Chr13:32363384

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA025495

rs_28897749

5 SubmittersRCV000045444 RCV000113883 RCV000573475

NM_000059.4(BRCA2):c.818C>A (p.Ser273Ter)

SNV
Germline

Chr13:32332296

Pathogenic

Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA025501

rs_80359068

8 SubmittersRCV000219107 RCV000239330 RCV000657626 RCV001387344

NM_000059.4(BRCA2):c.818C>G (p.Ser273Ter)

SNV
Germline

Chr13:32332296

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA025502

rs_80359068

6 SubmittersRCV000112854 RCV000657761 RCV001383011 RCV006362035

NM_000059.4(BRCA2):c.8215G>A (p.Val2739Ile)

SNV
Germline

Chr13:32363417

Conflicting classifications of pathogenicity

Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome
Fanconi anemia complementation group D1
Malignant tumor of breast
Breast and/or ovarian cancer
BRCA2-related disorder

Criteria Provided
Conflicting Classifications

CA025521

rs_80359069

19 SubmittersRCV000045453 RCV000077431 RCV000129733 RCV000214196 RCV001080912 RCV001110061 RCV001353878 RCV003149693 RCV004537208

NM_000059.4(BRCA2):c.8243G>A (p.Gly2748Asp)

SNV
Germline

Chr13:32363445

Pathogenic

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Gastric cancer

Reviewed By Expert Panel

CA025535

rs_80359071

25 SubmittersRCV000045460 RCV000113895 RCV000216216 RCV000481847 RCV003473417 RCV003162390

NM_000059.4(BRCA2):c.8254A>T (p.Ile2752Phe)

SNV
Germline

Chr13:32363456

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA025541

rs_80359072

7 SubmittersRCV000045463 RCV000113898 RCV000130435 RCV001582544

NM_000059.4(BRCA2):c.8314G>T (p.Glu2772Ter)

SNV
Germline

Chr13:32363516

Pathogenic

Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA025564

rs_397507975

4 SubmittersRCV000166747 RCV000241200 RCV001380792

NM_000059.4(BRCA2):c.8324T>C (p.Met2775Thr)

SNV
Germline

Chr13:32363526

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
BRCA2-related disorder
Familial cancer of breast
Cancer or benign tumor

Criteria Provided
Conflicting Classifications

CA025573

rs_80359073

13 SubmittersRCV000045473 RCV000113902 RCV000130178 RCV000213690 RCV002222369 RCV004537209 RCV004566850 RCV005625251

NM_000059.4(BRCA2):c.8324T>G (p.Met2775Arg)

SNV
Germline

Chr13:32363526

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Breast and/or ovarian cancer
not specified
BRCA2-related disorder

Criteria Provided
Conflicting Classifications

CA025574

rs_80359073

12 SubmittersRCV000045474 RCV000129803 RCV000113903 RCV000587216 RCV000769702 RCV001175342 RCV004537210

NM_000059.4(BRCA2):c.8331+1G>T

SNV
Germline

Chr13:32363534

Likely pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Single Submitter

CA025579

rs_81002837

3 SubmittersRCV000113904 RCV000496807 RCV002433532

NM_000059.4(BRCA2):c.8331G>A (p.Lys2777=)

SNV
Germline

Chr13:32363533

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
BRCA2-related cancer predisposition
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA025582

rs_80359802

4 SubmittersRCV000113906 RCV003352758 RCV005357357 RCV006461313

NM_000059.4(BRCA2):c.8351G>A (p.Arg2784Gln)

SNV
Germline

Chr13:32370421

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Breast neoplasm
Breast and/or ovarian cancer
Condition: not provided
Familial cancer of breast
BRCA2-related disorder
Breast-ovarian cancer, familial, susceptibility to, 2
Familial cancer of breast
Inherited breast cancer and ovarian cancer
not specified

Criteria Provided
Conflicting Classifications

CA025594

rs_80359076

25 SubmittersRCV000045488 RCV000077435 RCV000129468 RCV000148441 RCV000769704 RCV001269526 RCV003473419 RCV004542707 RCV005357358 RCV006436417 RCV006456653

NM_000059.4(BRCA2):c.8356G>A (p.Ala2786Thr)

SNV
Germline

Chr13:32370426

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Prostate cancer
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA025598

rs_80359077

14 SubmittersRCV000077436 RCV000130784 RCV000220216 RCV000588037 RCV000677863 RCV001082678

NM_000059.4(BRCA2):c.8359C>T (p.Arg2787Cys)

SNV
Germline

Chr13:32370429

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Hereditary breast ovarian cancer syndrome
Malignant tumor of breast
Pancreatic cancer, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA025600

rs_41293517

13 SubmittersRCV000113912 RCV000130122 RCV000305632 RCV000656804 RCV001088658 RCV001269500 RCV005357359

NM_000059.4(BRCA2):c.8362T>C (p.Trp2788Arg)

SNV
Germline

Chr13:32370432

Likely pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
BRCA2-related cancer predisposition

Reviewed By Expert Panel

CA025602

rs_80359079

6 SubmittersRCV000113915 RCV000219719 RCV001290197 RCV001574924 RCV005628791

NM_000059.4(BRCA2):c.8363G>A (p.Trp2788Ter)

SNV
Germline/somatic

Chr13:32370433

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Breast and/or ovarian cancer
Hereditary breast ovarian cancer syndrome
Malignant tumor of urinary bladder
Condition: not provided

Reviewed By Expert Panel

CA025603

rs_80359080

10 SubmittersRCV000162060 RCV001017605 RCV001271063 RCV001381657 RCV003332103 RCV006277689

NM_000059.4(BRCA2):c.8363G>C (p.Trp2788Ser)

SNV
Germline

Chr13:32370433

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA025604

rs_80359080

5 SubmittersRCV000113916 RCV001017606 RCV001290198

NM_000059.4(BRCA2):c.8364G>A (p.Trp2788Ter)

SNV
Germline

Chr13:32370434

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Gastric cancer
BRCA2-related disorder

Reviewed By Expert Panel

CA025605

rs_397507981

15 SubmittersRCV000241319 RCV000236926 RCV000216791 RCV000496647 RCV003162391 RCV004724782

NM_000059.4(BRCA2):c.8368A>T (p.Thr2790Ser)

SNV
Germline

Chr13:32370438

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA025608

rs_80359081

10 SubmittersRCV000045497 RCV000083146 RCV000165808 RCV000679190 RCV003330414

NM_000059.4(BRCA2):c.8375T>C (p.Leu2792Pro)

SNV
Germline

Chr13:32370445

Likely pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
BRCA2-related cancer predisposition

Reviewed By Expert Panel

CA025612

rs_28897751

8 SubmittersRCV000113921 RCV001017646 RCV001290199 RCV003137581 RCV006258957

NM_000059.4(BRCA2):c.8377G>A (p.Gly2793Arg)

SNV
Germline

Chr13:32370447

Pathogenic/Likely pathogenic

Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified
Familial cancer of breast
BRCA2-related disorder
BRCA2-related cancer predisposition

Criteria Provided
Multiple Submitters
No Conflicts

CA025613

rs_80359082

21 SubmittersRCV000045499 RCV000074556 RCV000077437 RCV000131353 RCV000496849 RCV003473420 RCV004732628 RCV004803910

NM_000059.4(BRCA2):c.8382C>G (p.Phe2794Leu)

SNV
Germline

Chr13:32370452

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA025617

rs_80359084

10 SubmittersRCV000113922 RCV000130127 RCV000766553 RCV001326297 RCV003460618

NM_000059.4(BRCA2):c.838A>G (p.Lys280Glu)

SNV
Germline

Chr13:32332316

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA025621

rs_80359085

7 SubmittersRCV000112857 RCV000776393 RCV001296381 RCV002271390 RCV003476932

NM_000059.4(BRCA2):c.8398C>T (p.Pro2800Ser)

SNV
Germline

Chr13:32370468

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA025626

rs_80359086

6 SubmittersRCV000113926 RCV000773274 RCV002267817 RCV001857375 RCV004803911

NM_000059.4(BRCA2):c.841G>A (p.Asp281Asn)

SNV
Germline

Chr13:32332319

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Hereditary breast ovarian cancer syndrome
BRCA2-related disorder
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA025634

rs_80359088

12 SubmittersRCV000077438 RCV000130406 RCV000482899 RCV000586972 RCV001081452 RCV004732629 RCV004803912

NM_000059.4(BRCA2):c.8420C>T (p.Ser2807Leu)

SNV
Germline

Chr13:32370490

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Malignant tumor of breast
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA025635

rs_55763607

15 SubmittersRCV000045513 RCV000083147 RCV000130247 RCV000212274 RCV000588703 RCV001353406 RCV004803913

NM_000059.4(BRCA2):c.8428A>G (p.Ser2810Gly)

SNV
Germline

Chr13:32370498

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Malignant tumor of breast
Condition: not provided
Hereditary breast ovarian cancer syndrome
Breast and/or ovarian cancer
not specified

Criteria Provided
Conflicting Classifications

CA025641

rs_80359089

10 SubmittersRCV000129757 RCV000113930 RCV000484281 RCV000657058 RCV001314399 RCV001170975 RCV005055547

NM_000059.4(BRCA2):c.8432A>G (p.Asp2811Gly)

SNV
Germline

Chr13:32370502

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial prostate cancer
BRCA2-related disorder

Criteria Provided
Conflicting Classifications

CA025642

rs_80359090

11 SubmittersRCV000045516 RCV000113931 RCV000455611 RCV000771458 RCV001284112 RCV005364930 RCV004732630

NM_000059.4(BRCA2):c.8438G>A (p.Gly2813Glu)

SNV
Germline

Chr13:32370508

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA025646

rs_80359092

5 SubmittersRCV000045520 RCV000113933 RCV000567212 RCV004803915

NM_000059.4(BRCA2):c.8452G>A (p.Val2818Ile)

SNV
Germline

Chr13:32370522

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Familial cancer of breast
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA025651

rs_80359094

15 SubmittersRCV000045523 RCV000113935 RCV000166574 RCV000212275 RCV001193320 RCV003460619 RCV005357361

NM_000059.4(BRCA2):c.8462T>C (p.Ile2821Thr)

SNV
Germline

Chr13:32370532

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified

Criteria Provided
Conflicting Classifications

CA025654

rs_80359096

5 SubmittersRCV000113938 RCV000502475 RCV000575289 RCV002514212 RCV003488364

NM_000059.4(BRCA2):c.847A>G (p.Ile283Val)

SNV
Germline

Chr13:32332325

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group D1
Condition: not provided
not specified
Familial prostate cancer

Criteria Provided
Conflicting Classifications

CA025663

rs_80359097

15 SubmittersRCV000045529 RCV000077440 RCV000164639 RCV001114949 RCV001561218 RCV003235008 RCV005357362

NM_000059.4(BRCA2):c.8482A>G (p.Ile2828Val)

SNV
Germline

Chr13:32370552

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified
Prostate cancer
BRCA2-related cancer predisposition
BRCA2-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA025664

rs_80359098

12 SubmittersRCV000045530 RCV000113940 RCV000129626 RCV000507614 RCV003137582 RCV004803916 RCV004732631 RCV006258958

NM_000059.4(BRCA2):c.8485C>T (p.Gln2829Ter)

SNV
Germline

Chr13:32370555

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided

Reviewed By Expert Panel

CA025665

rs_80359099

10 SubmittersRCV000113942 RCV001525854 RCV001383608 RCV002271989 RCV004797775

NM_000059.4(BRCA2):c.8487+1G>A

SNV
Germline

Chr13:32370558

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Familial cancer of breast

Reviewed By Expert Panel

CA025670

rs_81002798

18 SubmittersRCV000077441 RCV000122367 RCV000131086 RCV000212276 RCV000220501 RCV003473422

NM_000059.4(BRCA2):c.8487+3A>G

SNV
Germline

Chr13:32370560

Pathogenic/Likely pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Malignant tumor of breast
Condition: not provided
Neurodevelopmental delay
Cerebral palsy
Hearing impairment
Hereditary breast ovarian cancer syndrome
Familial cancer of breast
Fanconi anemia complementation group D1
Hereditary breast ovarian cancer syndrome
BRCA2-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA025672

rs_81002806

12 SubmittersRCV000113945 RCV000571631 RCV000502951 RCV000985604 RCV001007900 RCV001379438 RCV002272042 RCV003483454 RCV004732632

NM_000059.4(BRCA2):c.8487+4T>C

SNV
Germline

Chr13:32370561

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
not specified
Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA025674

rs_81002801

6 SubmittersRCV000113947 RCV000434390 RCV000589603 RCV001300602 RCV002444502

NM_000059.4(BRCA2):c.8489G>A (p.Trp2830Ter)

SNV
Germline

Chr13:32370957

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Reviewed By Expert Panel

CA025679

rs_80359101

12 SubmittersRCV000077442 RCV000222775 RCV000484831 RCV000569959 RCV003473423

NM_000059.4(BRCA2):c.8504C>A (p.Ser2835Ter)

SNV
Germline

Chr13:32370972

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Reviewed By Expert Panel

CA025685

rs_80359102

10 SubmittersRCV000113951 RCV000509923 RCV000779936 RCV000985605

NM_000059.4(BRCA2):c.8518A>G (p.Ile2840Val)

SNV
Germline

Chr13:32370986

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Prostate cancer
Familial cancer of breast
BRCA2-related disorder
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA025690

rs_80359103

16 SubmittersRCV000045543 RCV000113953 RCV000132218 RCV000478553 RCV000657032 RCV003137583 RCV003460620 RCV004732633 RCV004803918

NM_000059.4(BRCA2):c.8524C>T (p.Arg2842Cys)

SNV
Germline

Chr13:32370992

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Familial cancer of breast
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA025691

rs_80359104

18 SubmittersRCV000045544 RCV000077443 RCV000165225 RCV000212277 RCV000656805 RCV003473424 RCV004689433

NM_000059.4(BRCA2):c.8539G>A (p.Glu2847Lys)

SNV
Germline

Chr13:32371007

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA025700

rs_80359108

10 SubmittersRCV000045551 RCV000113958 RCV000564844 RCV000479458 RCV000767049 RCV004566851

NM_000059.4(BRCA2):c.8545A>G (p.Lys2849Glu)

SNV
Germline

Chr13:32371013

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA025703

rs_80359109

9 SubmittersRCV000045552 RCV000077445 RCV000162806 RCV000508013 RCV000827098

NM_000059.4(BRCA2):c.8548G>A (p.Glu2850Lys)

SNV
Germline

Chr13:32371016

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA025707

rs_80359110

4 SubmittersRCV000113959 RCV000579812 RCV001857376

NM_000059.4(BRCA2):c.8572C>A (p.Gln2858Lys)

SNV
Germline

Chr13:32371040

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Familial cancer of breast
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA025715

rs_80359112

10 SubmittersRCV000045560 RCV000113961 RCV000166603 RCV000212278 RCV000766652 RCV004566852 RCV004803920

NM_000059.4(BRCA2):c.8572C>T (p.Gln2858Ter)

SNV
Germline

Chr13:32371040

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Malignant tumor of breast
Condition: not provided

Reviewed By Expert Panel

CA025716

rs_80359112

9 SubmittersRCV000113962 RCV000496700 RCV001018029 RCV001353467 RCV004998160

NM_000059.4(BRCA2):c.8573A>G (p.Gln2858Arg)

SNV
Germline

Chr13:32371041

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Breast and/or ovarian cancer
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA025717

rs_80359114

13 SubmittersRCV000045562 RCV000113963 RCV000131683 RCV000656806 RCV001192535 RCV001798241 RCV005357363

NM_000059.4(BRCA2):c.8575C>T (p.Gln2859Ter)

SNV
Germline

Chr13:32371043

Pathogenic

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Reviewed By Expert Panel

CA025718

rs_80359115

12 SubmittersRCV000045563 RCV000113964 RCV000483527 RCV000509703 RCV003473425

NM_000059.4(BRCA2):c.8599A>C (p.Thr2867Pro)

SNV
Germline

Chr13:32371067

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
not specified
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA025730

rs_80359119

11 SubmittersRCV000083148 RCV000507305 RCV000571223 RCV001374174 RCV004566853

NM_000059.4(BRCA2):c.8629G>T (p.Glu2877Ter)

SNV
Germline

Chr13:32371097

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Gastric cancer

Reviewed By Expert Panel

CA025737

rs_80359121

6 SubmittersRCV000113970 RCV000218194 RCV001390828 RCV003162392

NM_000059.4(BRCA2):c.8632+1G>A

SNV
Germline/somatic

Chr13:32371101

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Malignant tumor of urinary bladder

Reviewed By Expert Panel

CA025740

rs_397507997

7 SubmittersRCV000238926 RCV000584092 RCV001383610 RCV003332104

NM_000059.4(BRCA2):c.8632+2T>G

SNV
Germline

Chr13:32371102

Pathogenic/Likely pathogenic

Familial cancer of breast
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA025743

rs_397507998

4 SubmittersRCV000576919 RCV001526913 RCV006258959

NM_000059.4(BRCA2):c.8632+6A>G

SNV
Germline

Chr13:32371106

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA025744

rs_81002894

5 SubmittersRCV000045580 RCV000113973 RCV000773275 RCV001284452

NM_000059.4(BRCA2):c.8644A>T (p.Lys2882Ter)

SNV
Germline

Chr13:32376681

Pathogenic

Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA025757

rs_397508000

4 SubmittersRCV000577482 RCV000661593 RCV003343622 RCV003529945

NM_000059.4(BRCA2):c.8663G>A (p.Arg2888His)

SNV
Germline

Chr13:32376700

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Familial cancer of breast
not specified

Criteria Provided
Conflicting Classifications

CA025768

rs_80359124

11 SubmittersRCV000113981 RCV000215217 RCV000212281 RCV001852959 RCV003460623 RCV005237473

NM_000059.4(BRCA2):c.8663G>C (p.Arg2888Pro)

SNV
Germline

Chr13:32376700

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA025769

rs_80359124

4 SubmittersRCV000113982 RCV002514213 RCV005603593 RCV006362037

NM_000059.4(BRCA2):c.8663G>T (p.Arg2888Leu)

SNV
Germline

Chr13:32376700

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified

Criteria Provided
Conflicting Classifications

CA025770

rs_80359124

6 SubmittersRCV000113983 RCV000520379 RCV001182803 RCV001302575 RCV006456654

NM_000059.4(BRCA2):c.8665G>T (p.Ala2889Ser)

SNV
Germline

Chr13:32376702

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA025771

rs_80359126

5 SubmittersRCV000113984 RCV000216553 RCV001363806 RCV001562783

NM_000059.4(BRCA2):c.8668C>A (p.Leu2890Ile)

SNV
Germline

Chr13:32376705

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
not specified
Familial cancer of breast
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA025773

rs_80359127

19 SubmittersRCV000077447 RCV000131717 RCV000587037 RCV001082637 RCV001175344 RCV003607220 RCV004803922

NM_000059.4(BRCA2):c.8680C>T (p.Gln2894Ter)

SNV
Germline

Chr13:32376717

Pathogenic

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA025778

rs_397508002

7 SubmittersRCV000577659 RCV000581796 RCV000661884 RCV000585644 RCV000781156

NM_000059.4(BRCA2):c.8723T>G (p.Val2908Gly)

SNV
Germline

Chr13:32376760

Conflicting classifications of pathogenicity

not specified
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Malignant tumor of breast

Criteria Provided
Conflicting Classifications

CA025794

rs_28897753

15 SubmittersRCV000045608 RCV000077449 RCV000131647 RCV000167857 RCV001281731 RCV001353401

NM_000059.4(BRCA2):c.8732C>T (p.Ala2911Val)

SNV
Germline

Chr13:32376769

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA025797

rs_80359130

5 SubmittersRCV000113990 RCV000223485 RCV000588455 RCV001857377

NM_000059.4(BRCA2):c.8754+1G>A

SNV
Germline

Chr13:32376792

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Malignant tumor of breast
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA025803

rs_397508006

9 SubmittersRCV000239149 RCV000582129 RCV000779998 RCV001354347 RCV003133124

NM_000059.4(BRCA2):c.8754+3G>C

SNV
Germline

Chr13:32376794

Pathogenic/Likely pathogenic

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA025805

rs_397508007

13 SubmittersRCV000045614 RCV000131319 RCV000258465 RCV000521379

NM_000059.4(BRCA2):c.8754+4A>G

SNV
Germline

Chr13:32376795

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Malignant tumor of breast
Condition: not provided

Reviewed By Expert Panel

CA025806

rs_81002893

13 SubmittersRCV000077450 RCV000501422 RCV000565525 RCV001353977 RCV001800350

NM_000059.4(BRCA2):c.8754G>A (p.Glu2918=)

SNV
Germline

Chr13:32376791

Pathogenic/Likely pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA025809

rs_80359803

10 SubmittersRCV000077451 RCV000131042 RCV000496546 RCV000523204

NM_000059.4(BRCA2):c.8756G>T (p.Gly2919Val)

SNV
Germline

Chr13:32379318

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
BRCA2-related cancer predisposition
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA025818

rs_80359131

12 SubmittersRCV000045621 RCV000113996 RCV000130693 RCV000479246 RCV000766295 RCV004803923 RCV004566854

NM_000059.4(BRCA2):c.8770G>T (p.Glu2924Ter)

SNV
Germline

Chr13:32379332

Pathogenic

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided

Reviewed By Expert Panel

CA025821

rs_80359133

12 SubmittersRCV000045624 RCV000083149 RCV000583458 RCV000759680

NM_000059.4(BRCA2):c.8773C>T (p.Gln2925Ter)

SNV
Germline

Chr13:32379335

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA025822

rs_80359134

9 SubmittersRCV000113998 RCV000574376 RCV001528880 RCV003460625 RCV005089424

NM_000059.4(BRCA2):c.8775G>C (p.Gln2925His)

SNV
Germline

Chr13:32379337

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA025824

rs_80359136

11 SubmittersRCV000077452 RCV000130540 RCV000766542 RCV001351341 RCV005357364

NM_000059.4(BRCA2):c.8789A>G (p.Asn2930Ser)

SNV
Germline

Chr13:32379351

Conflicting classifications of pathogenicity

Malignant tumor of breast
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
BRCA2-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA025826

rs_397508008

5 SubmittersRCV000502394 RCV000509762 RCV003529947 RCV004528253 RCV006273081

NM_000059.4(BRCA2):c.8806T>A (p.Leu2936Met)

SNV
Germline

Chr13:32379368

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA025830

rs_80359137

4 SubmittersRCV000114003 RCV000575016 RCV002514214 RCV006258960

NM_000059.4(BRCA2):c.8808G>C (p.Leu2936Phe)

SNV
Germline

Chr13:32379370

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA025832

rs_80359138

9 SubmittersRCV000045631 RCV000114004 RCV000130654 RCV001552792 RCV001844023

NM_000059.4(BRCA2):c.8821C>T (p.Gln2941Ter)

SNV
Germline

Chr13:32379383

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA025837

rs_397508012

4 SubmittersRCV000256787 RCV003162393 RCV003529949

NM_000059.4(BRCA2):c.8824G>A (p.Ala2942Thr)

SNV
Germline

Chr13:32379386

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA025838

rs_80359139

9 SubmittersRCV000045636 RCV000114005 RCV000129548 RCV000483549 RCV001001235 RCV004566855

NM_000059.4(BRCA2):c.8850G>T (p.Lys2950Asn)

SNV
Germline

Chr13:32379412

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
Breast and/or ovarian cancer
Fanconi anemia complementation group D1
BRCA2-related disorder
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA025850

rs_28897754

32 SubmittersRCV000045642 RCV000114008 RCV000120366 RCV000162603 RCV000679194 RCV001170977 RCV001112820 RCV004528254 RCV004803924

NM_000059.4(BRCA2):c.8854A>G (p.Met2952Val)

SNV
Germline

Chr13:32379416

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA025853

rs_397508016

7 SubmittersRCV000077454 RCV000166571 RCV000507771 RCV001318143 RCV004803925

NM_000059.4(BRCA2):c.8878C>T (p.Gln2960Ter)

SNV
Germline

Chr13:32379440

Pathogenic

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 1
Familial cancer of breast
Inherited breast cancer and ovarian cancer
NICE approved PARP inhibitor treatment

Reviewed By Expert Panel

CA025859

rs_80359140

21 SubmittersRCV000045646 RCV000077455 RCV000162940 RCV000223154 RCV001310187 RCV003473426 RCV005646766 RCV005646765

NM_000059.4(BRCA2):c.8893G>C (p.Asp2965His)

SNV
Germline

Chr13:32379455

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA025862

rs_80359141

8 SubmittersRCV000114012 RCV000129723 RCV000429093 RCV001481867 RCV004803926

NM_000059.4(BRCA2):c.8915T>G (p.Leu2972Trp)

SNV
Germline

Chr13:32379477

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA025870

rs_80359142

13 SubmittersRCV000114014 RCV000212282 RCV000215767 RCV001346965 RCV002222370 RCV003460626

NM_000059.4(BRCA2):c.8933C>A (p.Ser2978Ter)

SNV
Germline

Chr13:32379495

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Condition: not provided
Familial cancer of breast

Reviewed By Expert Panel

CA025877

rs_80359144

10 SubmittersRCV000114016 RCV000449077 RCV001310188 RCV001388609 RCV001560201 RCV003473427

NM_000059.4(BRCA2):c.8944A>C (p.Lys2982Gln)

SNV
Germline

Chr13:32379506

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA025882

rs_80359145

10 SubmittersRCV000045662 RCV000114017 RCV000708685 RCV000985613 RCV001818223 RCV004566856

NM_000059.4(BRCA2):c.8953+1G>A

SNV
Germline

Chr13:32379516

Pathogenic/Likely pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA025889

rs_81002882

5 SubmittersRCV000258436 RCV000481114 RCV000772120 RCV003529951

NM_000059.4(BRCA2):c.8954-3C>G

SNV
Germline

Chr13:32379747

Likely pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA025895

rs_81002844

7 SubmittersRCV000114023 RCV001018542 RCV001366157 RCV004700328

NM_000059.4(BRCA2):c.8970G>A (p.Trp2990Ter)

SNV
Germline

Chr13:32379766

Pathogenic

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided

Reviewed By Expert Panel

CA025904

rs_80359149

7 SubmittersRCV000045675 RCV000114026 RCV000565595 RCV000657750

NM_000059.4(BRCA2):c.8991T>G (p.Tyr2997Ter)

SNV
Germline

Chr13:32379787

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA025915

rs_397508028

8 SubmittersRCV000257890 RCV000657636 RCV000771470 RCV001388610

NM_000059.4(BRCA2):c.8999T>A (p.Leu3000Ter)

SNV
Germline

Chr13:32379795

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA025918

rs_80359151

3 SubmittersRCV000114029 RCV001852963

NM_000059.4(BRCA2):c.9006A>T (p.Glu3002Asp)

SNV
Germline

Chr13:32379802

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
8 conditions

Criteria Provided
Conflicting Classifications

CA025921

rs_80359153

10 SubmittersRCV000045686 RCV000083151 RCV000129004 RCV000656809 RCV005007980

NM_000059.4(BRCA2):c.9018C>A (p.Tyr3006Ter)

SNV
Germline

Chr13:32379814

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA025930

rs_80359154

8 SubmittersRCV000114031 RCV000131053 RCV000587546

NM_000059.4(BRCA2):c.9032T>C (p.Leu3011Pro)

SNV
Germline

Chr13:32379828

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA025937

rs_80359155

12 SubmittersRCV000077458 RCV000045694 RCV000130329 RCV000505780 RCV001175463 RCV004803927

NM_000059.4(BRCA2):c.905C>G (p.Thr302Ser)

SNV
Germline

Chr13:32332383

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA025951

rs_80359158

9 SubmittersRCV000112862 RCV000758970 RCV000773257 RCV001857379

NM_000059.4(BRCA2):c.9076C>G (p.Gln3026Glu)

SNV
Germline

Chr13:32379872

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Familial cancer of breast
BRCA2-related cancer predisposition
BRCA2-related disorder

Criteria Provided
Conflicting Classifications

CA025961

rs_80359159

13 SubmittersRCV000045705 RCV000114041 RCV000129636 RCV000520875 RCV001171401 RCV003460627 RCV004803928 RCV004724783

NM_000059.4(BRCA2):c.9085G>A (p.Ala3029Thr)

SNV
Germline

Chr13:32379881

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Breast neoplasm
Condition: not provided
Hereditary breast ovarian cancer syndrome
Malignant tumor of breast

Criteria Provided
Conflicting Classifications

CA025965

rs_56179254

14 SubmittersRCV000114043 RCV000129046 RCV000413118 RCV000587355 RCV001083149 RCV001353636

NM_000059.4(BRCA2):c.9086C>T (p.Ala3029Val)

SNV
Germline

Chr13:32379882

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Breast and/or ovarian cancer
Familial cancer of breast
BRCA2-related disorder
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA025966

rs_80359162

16 SubmittersRCV000045708 RCV000077459 RCV000129861 RCV000479673 RCV000657008 RCV003492370 RCV004566857 RCV004537211 RCV004803929

NM_000059.4(BRCA2):c.9100C>T (p.Gln3034Ter)

SNV
Germline

Chr13:32379896

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast
8 conditions

Reviewed By Expert Panel

CA025978

rs_80359163

10 SubmittersRCV000114047 RCV000220911 RCV000496303 RCV002371870 RCV003473428 RCV005411311

NM_000059.4(BRCA2):c.9104A>G (p.Tyr3035Cys)

SNV
Germline

Chr13:32379900

Conflicting classifications of pathogenicity

not specified
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Malignant tumor of breast

Criteria Provided
Conflicting Classifications

CA025981

rs_80359165

10 SubmittersRCV000045718 RCV000114048 RCV000203635 RCV000222955 RCV000759682 RCV001354003

NM_000059.4(BRCA2):c.9109C>T (p.Gln3037Ter)

SNV
Germline/somatic

Chr13:32379905

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Malignant tumor of urinary bladder

Reviewed By Expert Panel

CA025985

rs_397508037

9 SubmittersRCV000083153 RCV001270014 RCV001358765 RCV002371871 RCV003332105

NM_000059.4(BRCA2):c.9116C>T (p.Pro3039Leu)

SNV
Germline

Chr13:32379912

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Malignant tumor of breast

Criteria Provided
Conflicting Classifications

CA025988

rs_80359167

23 SubmittersRCV000045720 RCV000083154 RCV000131718 RCV000254649 RCV000759684 RCV001355960

NM_000059.4(BRCA2):c.9117+1G>A

SNV
Germline

Chr13:32379914

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA025989

rs_81002802

10 SubmittersRCV000114050 RCV000566486 RCV000985618 RCV001390603 RCV003460628

NM_000059.4(BRCA2):c.9118-2A>G

SNV
Germline

Chr13:32380005

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA025996

rs_81002862

16 SubmittersRCV000077460 RCV000212285 RCV000496786 RCV000771399

NM_000059.4(BRCA2):c.913G>A (p.Glu305Lys)

SNV
Germline

Chr13:32332391

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA026002

rs_80359169

5 SubmittersRCV000112863 RCV000581009 RCV001300873

NM_000059.4(BRCA2):c.9148C>T (p.Gln3050Ter)

SNV
Germline

Chr13:32380037

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA026004

rs_80359170

12 SubmittersRCV000083155 RCV000221883 RCV000771484 RCV001383878

NM_000059.4(BRCA2):c.9154C>T (p.Arg3052Trp)

SNV
Germline

Chr13:32380043

Pathogenic

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 1
Familial cancer of breast
Breast and/or ovarian cancer
Malignant tumor of breast
BRCA2-related cancer predisposition

Reviewed By Expert Panel

CA026006

rs_45580035

39 SubmittersRCV000045732 RCV000077461 RCV000163027 RCV000221843 RCV000210144 RCV000585715 RCV000770736 RCV001356308 RCV004803930

NM_000059.4(BRCA2):c.9161C>A (p.Pro3054His)

SNV
Germline

Chr13:32380050

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA026010

rs_80359172

4 SubmittersRCV000114057 RCV002371874 RCV003644875

NM_000059.4(BRCA2):c.9172A>G (p.Ser3058Gly)

SNV
Germline

Chr13:32380061

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA026015

rs_80359173

6 SubmittersRCV000045736 RCV000114058 RCV001018956 RCV003390743 RCV004803931

NM_000059.4(BRCA2):c.9182T>A (p.Leu3061Ter)

SNV
Germline

Chr13:32380071

Pathogenic

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast

Reviewed By Expert Panel

CA026019

rs_80359175

11 SubmittersRCV000045739 RCV000114061 RCV000162941 RCV000505856 RCV003460629

NM_000059.4(BRCA2):c.9190G>A (p.Asp3064Asn)

SNV
Germline

Chr13:32380079

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA026023

rs_80359177

12 SubmittersRCV000077462 RCV000130150 RCV000440778 RCV000590167 RCV001083475

NM_000059.4(BRCA2):c.91T>C (p.Trp31Arg)

SNV
Germline

Chr13:32319100

Likely pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA026029

rs_80359182

3 SubmittersRCV000113123 RCV001378307 RCV005251052

NM_000059.4(BRCA2):c.9207T>A (p.Cys3069Ter)

SNV
Germline

Chr13:32380096

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA026033

rs_80359183

5 SubmittersRCV000114065 RCV002514215 RCV004018939

NM_000059.4(BRCA2):c.9213G>T (p.Glu3071Asp)

SNV
Germline

Chr13:32380102

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA026035

rs_80359184

6 SubmittersRCV000114066 RCV001019007 RCV001309238 RCV001719799

NM_000059.4(BRCA2):c.9218A>G (p.Asp3073Gly)

SNV
Germline

Chr13:32380107

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
8 conditions
Fanconi anemia complementation group D1

Criteria Provided
Conflicting Classifications

CA026037

rs_80359186

10 SubmittersRCV000045750 RCV000077464 RCV000130237 RCV000656811 RCV000765143 RCV001114168

NM_000059.4(BRCA2):c.9227G>A (p.Gly3076Glu)

SNV
Germline

Chr13:32380116

Likely pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
BRCA2-related cancer predisposition

Reviewed By Expert Panel

CA026040

rs_80359187

12 SubmittersRCV000114069 RCV000216816 RCV000221088 RCV001290187 RCV004760360 RCV006258961

NM_000059.4(BRCA2):c.9247A>T (p.Lys3083Ter)

SNV
Germline

Chr13:32380136

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA026049

rs_80359190

4 SubmittersRCV000256545 RCV001019066 RCV001380998

NM_000059.4(BRCA2):c.9249A>T (p.Lys3083Asn)

SNV
Germline

Chr13:32380138

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Familial cancer of breast
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA026050

rs_80359191

11 SubmittersRCV000045758 RCV000114073 RCV000131342 RCV000212287 RCV000759688 RCV004566858 RCV004803933

NM_000059.4(BRCA2):c.9256+1G>A

SNV
Germline

Chr13:32380146

Pathogenic/Likely pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
BRCA2-related disorder
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA026057

rs_81002883

8 SubmittersRCV000114075 RCV001019075 RCV001381000 RCV004732635 RCV004721255

NM_000059.4(BRCA2):c.9257-1G>A

SNV
Germline

Chr13:32394688

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Multiple Submitters
No Conflicts

CA026064

rs_81002889

6 SubmittersRCV000164703 RCV001376859 RCV002472948 RCV003229804

NM_000059.4(BRCA2):c.9257-1G>C

SNV
Germline

Chr13:32394688

Pathogenic

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
BRCA2-related cancer predisposition

Criteria Provided
Multiple Submitters
No Conflicts

CA026065

rs_81002889

14 SubmittersRCV000045767 RCV000083156 RCV000131040 RCV000212288 RCV003473430 RCV004803934

NM_000059.4(BRCA2):c.9263C>T (p.Ala3088Val)

SNV
Germline

Chr13:32394695

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA026073

rs_80359193

3 SubmittersRCV000114083 RCV001346740 RCV002371876

NM_000059.4(BRCA2):c.9271G>A (p.Val3091Ile)

SNV
Germline

Chr13:32394703

Conflicting classifications of pathogenicity

not specified
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
BRCA2-related cancer predisposition
Hereditary cancer

Criteria Provided
Conflicting Classifications

CA026076

rs_80359194

15 SubmittersRCV000045772 RCV000083157 RCV000167774 RCV000165867 RCV000985621 RCV004803935 RCV005234955

NM_000059.4(BRCA2):c.9275A>G (p.Tyr3092Cys)

SNV
Germline

Chr13:32394707

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Breast and/or ovarian cancer
Hereditary breast ovarian cancer syndrome
BRCA2-related disorder

Criteria Provided
Conflicting Classifications

CA026081

rs_80359195

19 SubmittersRCV000077466 RCV000131684 RCV000424310 RCV000586462 RCV000735623 RCV001084297 RCV004537212

NM_000059.4(BRCA2):c.9276T>G (p.Tyr3092Ter)

SNV
Germline

Chr13:32394708

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA026083

rs_80359197

7 SubmittersRCV000114085 RCV001381498 RCV002371877

NM_000059.4(BRCA2):c.9285C>G (p.Asp3095Glu)

SNV
Germline

Chr13:32394717

Pathogenic

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
BRCA2-related cancer predisposition

Criteria Provided
Multiple Submitters
No Conflicts

CA026086

rs_80359198

15 SubmittersRCV000045779 RCV000077467 RCV000223197 RCV000236007 RCV003473431 RCV004803936

NM_000059.4(BRCA2):c.9286G>T (p.Glu3096Ter)

SNV
Germline

Chr13:32394718

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA026089

rs_80359199

6 SubmittersRCV000114086 RCV001310190 RCV001388804 RCV002371878

NM_000059.4(BRCA2):c.9291T>A (p.Cys3097Ter)

SNV
Germline

Chr13:32394723

Pathogenic

Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Condition: not provided

Reviewed By Expert Panel

CA026091

rs_397508044

4 SubmittersRCV000577676 RCV000661690 RCV002514216 RCV003476936

NM_000059.4(BRCA2):c.92G>A (p.Trp31Ter)

SNV
Germline

Chr13:32319101

Pathogenic

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
8 conditions
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Familial pancreatic carcinoma

Reviewed By Expert Panel

CA026096

rs_397508045

11 SubmittersRCV000045785 RCV000241373 RCV000762913 RCV001179124 RCV003133125 RCV003460630 RCV005357367

NM_000059.4(BRCA2):c.9301C>G (p.Leu3101Val)

SNV
Germline

Chr13:32394733

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA026097

rs_80359202

5 SubmittersRCV000114087 RCV000509687 RCV001297255 RCV003460631

NM_000059.4(BRCA2):c.9307A>G (p.Ile3103Val)

SNV
Germline

Chr13:32394739

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA026099

rs_80359203

8 SubmittersRCV000077468 RCV000162720 RCV001295985 RCV001753460 RCV004803937

NM_000059.4(BRCA2):c.9309A>G (p.Ile3103Met)

SNV
Germline

Chr13:32394741

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA026101

rs_80359204

4 SubmittersRCV000114088 RCV000509809 RCV001365159

NM_000059.4(BRCA2):c.9317G>A (p.Trp3106Ter)

SNV
Germline

Chr13:32394749

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Breast carcinoma
Condition: not provided

Reviewed By Expert Panel

CA026103

rs_80359205

11 SubmittersRCV000114090 RCV000496936 RCV000585639 RCV001019163 RCV001646927 RCV006273083

NM_000059.4(BRCA2):c.9331G>T (p.Glu3111Ter)

SNV
Germline

Chr13:32394763

Pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA026106

rs_397508047

8 SubmittersRCV000130826 RCV000212289 RCV000241167 RCV001385101

NM_000059.4(BRCA2):c.9344A>G (p.Lys3115Arg)

SNV
Germline

Chr13:32394776

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
BRCA2-related cancer predisposition
Familial prostate cancer

Criteria Provided
Conflicting Classifications

CA026108

rs_276174923

14 SubmittersRCV000045795 RCV000114092 RCV000223579 RCV000985625 RCV001171420 RCV004803938 RCV005357368

NM_000059.4(BRCA2):c.9350A>C (p.His3117Pro)

SNV
Germline

Chr13:32394782

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA026109

rs_80359206

4 SubmittersRCV000114093 RCV001019198 RCV001315069

NM_000059.4(BRCA2):c.9356T>G (p.Leu3119Ter)

SNV
Germline

Chr13:32394788

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Familial cancer of breast

Reviewed By Expert Panel

CA026114

rs_80359207

6 SubmittersRCV000114094 RCV002371880 RCV002513649 RCV003473432

NM_000059.4(BRCA2):c.9367A>G (p.Ser3123Gly)

SNV
Germline

Chr13:32394799

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA026117

rs_80359208

4 SubmittersRCV000114097 RCV000165396 RCV000212290 RCV001338774

NM_000059.4(BRCA2):c.9374T>A (p.Leu3125His)

SNV
Germline

Chr13:32394806

Likely pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
BRCA2-related cancer predisposition

Reviewed By Expert Panel

CA026120

rs_80359209

7 SubmittersRCV000114098 RCV001290188 RCV003584524 RCV006276057

NM_000059.4(BRCA2):c.9376C>T (p.Gln3126Ter)

SNV
Germline

Chr13:32394808

Pathogenic

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided

Reviewed By Expert Panel

CA026122

rs_80359210

9 SubmittersRCV000045805 RCV000114100 RCV000576119 RCV001267994

NM_000059.4(BRCA2):c.9382C>T (p.Arg3128Ter)

SNV
Germline/somatic

Chr13:32394814

Pathogenic

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Breast neoplasm
Familial cancer of breast
Breast and/or ovarian cancer
8 conditions
BRCA2-related disorder
Gastric cancer
BRCA2-related cancer predisposition
NICE approved PARP inhibitor treatment
Colon adenocarcinoma
8 conditions
Inherited ovarian cancer (without breast cancer)

Reviewed By Expert Panel

CA026127

rs_80359212

57 SubmittersRCV000045807 RCV000077469 RCV000131048 RCV000160169 RCV000240732 RCV000474912 RCV000735625 RCV000763332 RCV001849300 RCV003162394 RCV004803939 RCV004782034 RCV006253754 RCV005007981 RCV006277690

NM_000059.4(BRCA2):c.93G>A (p.Trp31Ter)

SNV
Germline

Chr13:32319102

Pathogenic

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA026138

rs_80359214

6 SubmittersRCV000045810 RCV000256653 RCV005520227

NM_000059.4(BRCA2):c.93G>T (p.Trp31Cys)

SNV
Germline

Chr13:32319102

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA026140

rs_80359214

3 SubmittersRCV000045811 RCV000113126 RCV000565952

NM_000059.4(BRCA2):c.9425A>G (p.Asp3142Gly)

SNV
Germline

Chr13:32394857

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Malignant tumor of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA026149

rs_80359216

11 SubmittersRCV000083159 RCV000213617 RCV000509927 RCV000657021 RCV001295496 RCV004803941

NM_000059.4(BRCA2):c.9454G>A (p.Glu3152Lys)

SNV
Germline

Chr13:32394886

Conflicting classifications of pathogenicity

not specified
Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA026162

rs_80359218

12 SubmittersRCV000045822 RCV000077471 RCV000167823 RCV000165404 RCV001081057

NM_000059.4(BRCA2):c.9455A>G (p.Glu3152Gly)

SNV
Germline

Chr13:32394887

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA026164

rs_80359219

8 SubmittersRCV000045823 RCV000114109 RCV000214951 RCV000483186 RCV000779965 RCV004803942

NM_000059.4(BRCA2):c.9458G>C (p.Gly3153Ala)

SNV
Germline

Chr13:32394890

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA026167

rs_80359220

13 SubmittersRCV000045825 RCV000114111 RCV000163366 RCV000588545 RCV001818224

NM_000059.4(BRCA2):c.9477C>A (p.Phe3159Leu)

SNV
Germline

Chr13:32394909

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA026174

rs_80359221

8 SubmittersRCV000045831 RCV000114116 RCV000221995 RCV000985628 RCV002281735

NM_000059.4(BRCA2):c.9481A>T (p.Lys3161Ter)

SNV
Germline

Chr13:32394913

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Breast neoplasm
Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA026175

rs_80359222

10 SubmittersRCV000114117 RCV000414553 RCV000496504 RCV003476939 RCV003584525

NM_000059.4(BRCA2):c.9501+1G>A

SNV
Germline

Chr13:32394934

Pathogenic/Likely pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Familial cancer of breast
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA026182

rs_397508058

8 SubmittersRCV000258387 RCV000585647 RCV001092812 RCV001189741 RCV001852966

NM_000059.4(BRCA2):c.9501+4A>G

SNV
Germline

Chr13:32394937

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
BRCA2-related disorder
Familial pancreatic carcinoma

Criteria Provided
Conflicting Classifications

CA026184

rs_81002848

14 SubmittersRCV000045839 RCV000114121 RCV000129324 RCV000441376 RCV001284453 RCV004542710 RCV005357369

NM_000059.4(BRCA2):c.9502-2A>C

SNV
Germline

Chr13:32396896

Pathogenic/Likely pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA026190

rs_81002868

8 SubmittersRCV000114124 RCV000131049 RCV000507477 RCV001387733 RCV004566859

NM_000059.4(BRCA2):c.9542T>G (p.Met3181Arg)

SNV
Germline

Chr13:32396938

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Familial cancer of breast
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA026206

rs_80359225

9 SubmittersRCV000045853 RCV000114131 RCV000219030 RCV000590128 RCV000855634 RCV003473435 RCV004803943

NM_000059.4(BRCA2):c.956A>G (p.Asn319Ser)

SNV
Germline

Chr13:32332434

Conflicting classifications of pathogenicity

not specified
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Breast and/or ovarian cancer
Fanconi anemia complementation group D1
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA026215

rs_55939572

15 SubmittersRCV000045856 RCV000083161 RCV000128972 RCV000587951 RCV000735630 RCV001109313 RCV001080083

NM_000059.4(BRCA2):c.9572G>A (p.Trp3191Ter)

SNV
Germline

Chr13:32396968

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA026216

rs_397508063

4 SubmittersRCV000257532 RCV000496523

NM_000059.4(BRCA2):c.9583A>G (p.Thr3195Ala)

SNV
Germline

Chr13:32396979

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA026222

rs_80359227

12 SubmittersRCV000045861 RCV000083162 RCV000129471 RCV000427171 RCV001705703 RCV005357370

NM_000059.4(BRCA2):c.9610A>G (p.Thr3204Ala)

SNV
Germline

Chr13:32397006

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided

Criteria Provided
Conflicting Classifications

CA026232

rs_80359231

8 SubmittersRCV000045865 RCV000114133 RCV000213913 RCV003460632 RCV001353605

NM_000059.4(BRCA2):c.9611C>G (p.Thr3204Ser)

SNV
Germline

Chr13:32397007

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Breast and/or ovarian cancer

Criteria Provided
Conflicting Classifications

CA026233

rs_80359232

6 SubmittersRCV000045866 RCV000114134 RCV000759691 RCV002381336 RCV003492372

NM_000059.4(BRCA2):c.961C>T (p.Gln321Ter)

SNV
Germline

Chr13:32332439

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Familial cancer of breast

Reviewed By Expert Panel

CA026238

rs_80359234

11 SubmittersRCV000112867 RCV000217571 RCV000496598 RCV000657627 RCV003460634

NM_000059.4(BRCA2):c.9637A>G (p.Asn3213Asp)

SNV
Germline

Chr13:32397033

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA026242

rs_80359235

8 SubmittersRCV000045871 RCV000114138 RCV000129983 RCV001778689 RCV001852967 RCV004803945

NM_000059.4(BRCA2):c.9648+10T>G

SNV
Germline

Chr13:32397054

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary breast ovarian cancer syndrome
Familial cancer of breast
not specified

Criteria Provided
Conflicting Classifications

CA026247

rs_81002835

6 SubmittersRCV000114141 RCV000588518 RCV001087714 RCV003460635 RCV006456655

NM_000059.4(BRCA2):c.9649-2A>G

SNV
Germline

Chr13:32398160

Pathogenic/Likely pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA026253

rs_81002895

4 SubmittersRCV000114145 RCV004018940 RCV005089427

NM_000059.4(BRCA2):c.9677A>G (p.Tyr3226Cys)

SNV
Germline

Chr13:32398190

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Familial cancer of breast
BRCA2-related disorder

Criteria Provided
Conflicting Classifications

CA026266

rs_80359237

14 SubmittersRCV000045885 RCV000114153 RCV000165822 RCV000369165 RCV001175465 RCV003473437 RCV004537214

NM_000059.4(BRCA2):c.9690A>T (p.Leu3230Phe)

SNV
Germline

Chr13:32398203

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
not specified
BRCA2-related cancer predisposition
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA026269

rs_80359238

9 SubmittersRCV000045886 RCV000131275 RCV000114154 RCV000508027 RCV003155054 RCV004803947 RCV005357371

NM_000059.4(BRCA2):c.9718G>A (p.Val3240Ile)

SNV
Germline

Chr13:32398231

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA026279

rs_80359240

8 SubmittersRCV000045890 RCV000114156 RCV000165570 RCV000479353 RCV000587392

NM_000059.4(BRCA2):c.9770A>G (p.Lys3257Arg)

SNV
Germline

Chr13:32398283

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
not specified
BRCA2-related disorder

Criteria Provided
Conflicting Classifications

CA026294

rs_55847618

17 SubmittersRCV000077474 RCV000129187 RCV000586082 RCV001082226 RCV001818225 RCV004537216

NM_000059.4(BRCA2):c.979A>G (p.Lys327Glu)

SNV
Germline

Chr13:32332457

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA026298

rs_80359242

4 SubmittersRCV000112869 RCV001301981 RCV002381338

NM_000059.4(BRCA2):c.97G>T (p.Glu33Ter)

SNV
Germline

Chr13:32319106

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA026299

rs_397508065

3 SubmittersRCV000256555 RCV002514219

NM_000059.4(BRCA2):c.9820T>G (p.Leu3274Val)

SNV
Germline

Chr13:32398333

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Familial cancer of breast
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA026305

rs_80359244

9 SubmittersRCV000112814 RCV000222518 RCV000276881 RCV001345970 RCV003460637 RCV004803949

NM_000059.4(BRCA2):c.9838C>T (p.Pro3280Ser)

SNV
Germline

Chr13:32398351

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary cancer-predisposing syndrome
not specified
Familial pancreatic carcinoma

Criteria Provided
Conflicting Classifications

CA026310

rs_55835607

10 SubmittersRCV000045903 RCV000077476 RCV000487013 RCV000509955 RCV001193233 RCV005357372

NM_000059.4(BRCA2):c.9839C>A (p.Pro3280His)

SNV
Germline

Chr13:32398352

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Breast and/or ovarian cancer

Criteria Provided
Conflicting Classifications

CA026311

rs_80359246

13 SubmittersRCV000045904 RCV000077477 RCV000130774 RCV000430520 RCV001703949 RCV001798244

NM_000059.4(BRCA2):c.9883C>T (p.Gln3295Ter)

SNV
Germline/somatic

Chr13:32398396

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Malignant tumor of urinary bladder
Familial cancer of breast

Reviewed By Expert Panel

CA026321

rs_80359247

11 SubmittersRCV000112819 RCV000238720 RCV000496879 RCV001184567 RCV003332106 RCV003473438

NM_000059.4(BRCA2):c.9905G>A (p.Arg3302Lys)

SNV
Germline

Chr13:32398418

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
not specified
BRCA2-related disorder

Criteria Provided
Conflicting Classifications

CA026326

rs_80359249

12 SubmittersRCV000083164 RCV000509696 RCV000588627 RCV001309231 RCV003321492 RCV004537217

NM_000059.4(BRCA2):c.9907A>T (p.Ser3303Cys)

SNV
Germline

Chr13:32398420

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome
BRCA2-related disorder
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA026328

rs_276174930

8 SubmittersRCV000112821 RCV000167325 RCV000454487 RCV001302458 RCV004732636 RCV004803950

NM_000059.4(BRCA2):c.9917C>T (p.Thr3306Ile)

SNV
Germline

Chr13:32398430

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA026331

rs_80359250

4 SubmittersRCV000045913 RCV000112822 RCV001019887

NM_000059.4(BRCA2):c.9924C>G (p.Tyr3308Ter)

SNV
Germline

Chr13:32398437

Pathogenic

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Breast and/or ovarian cancer
Malignant tumor of breast
Familial cancer of breast
Inherited breast cancer and ovarian cancer

Reviewed By Expert Panel

CA026332

rs_4987049

17 SubmittersRCV000045914 RCV000077479 RCV000131045 RCV000221171 RCV000768644 RCV001354074 RCV003460638 RCV005237474

NM_000059.4(BRCA2):c.9925G>A (p.Glu3309Lys)

SNV
Germline

Chr13:32398438

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
not specified
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
BRCA2-related disorder
Hereditary cancer

Criteria Provided
Conflicting Classifications

CA026334

rs_80359251

16 SubmittersRCV000112824 RCV000120378 RCV000195387 RCV000130750 RCV001080047 RCV004537218 RCV005234956

NM_000059.4(BRCA2):c.992A>T (p.Lys331Ile)

SNV
Germline

Chr13:32332470

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA026336

rs_80359253

6 SubmittersRCV000045918 RCV000112870 RCV003157318

NM_000059.4(BRCA2):c.9936A>G (p.Ile3312Met)

SNV
Germline

Chr13:32398449

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome
Breast and/or ovarian cancer

Criteria Provided
Conflicting Classifications

CA026338

rs_80359255

6 SubmittersRCV000112826 RCV000165864 RCV000781148 RCV001364239 RCV003149697

NM_000059.4(BRCA2):c.9952A>C (p.Asn3318His)

SNV
Germline

Chr13:32398465

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Hereditary breast ovarian cancer syndrome
BRCA2-related disorder

Criteria Provided
Conflicting Classifications

CA026346

rs_80359256

8 SubmittersRCV000083165 RCV000165163 RCV000438846 RCV000985255 RCV001363034 RCV001535553

NM_007294.4(BRCA1):c.1012A>T (p.Lys338Ter)

SNV
Germline

Chr17:43094519

Pathogenic

Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Condition: not provided

Reviewed By Expert Panel

CA000683

rs_397508826

8 SubmittersRCV000165859 RCV000241023 RCV000496572 RCV004998163

NM_007294.4(BRCA1):c.1030G>A (p.Ala344Thr)

SNV
Germline

Chr17:43094501

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
not specified

Criteria Provided
Conflicting Classifications

CA000694

rs_79727659

10 SubmittersRCV000111530 RCV000581734 RCV000985363 RCV001327254 RCV005406780

NM_007294.4(BRCA1):c.1054G>T (p.Glu352Ter)

SNV
Germline

Chr17:43094477

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA000702

rs_80357472

10 SubmittersRCV000111532 RCV000162843 RCV000235441 RCV000781023

NM_007294.4(BRCA1):c.1058G>A (p.Trp353Ter)

SNV
Germline/somatic

Chr17:43094473

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary breast ovarian cancer syndrome
Malignant tumor of urinary bladder
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA000704

rs_80356908

14 SubmittersRCV000111533 RCV000486647 RCV000496789 RCV003332107 RCV003584526

NM_007294.4(BRCA1):c.1059G>A (p.Trp353Ter)

SNV
Germline

Chr17:43094472

Pathogenic

Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA000705

rs_80356935

16 SubmittersRCV000047321 RCV000111534 RCV000496330 RCV000519898 RCV001186964

NM_007294.4(BRCA1):c.1066C>T (p.Gln356Ter)

SNV
Germline

Chr17:43094465

Pathogenic

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast

Reviewed By Expert Panel

CA000711

rs_80357215

18 SubmittersRCV000047325 RCV000111538 RCV000162844 RCV000493346 RCV000786906

NM_007294.4(BRCA1):c.1076C>T (p.Pro359Leu)

SNV
Germline

Chr17:43094455

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA000719

rs_397508831

4 SubmittersRCV000577508 RCV001306992 RCV003157320

NM_007294.4(BRCA1):c.1081T>C (p.Ser361Pro)

SNV
Germline

Chr17:43094450

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
BRCA1-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA000723

rs_80356946

11 SubmittersRCV000047332 RCV000111542 RCV000216374 RCV000779861 RCV001357142 RCV004803952

NM_007294.4(BRCA1):c.1082C>G (p.Ser361Ter)

SNV
Germline

Chr17:43094449

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA000726

rs_397508833

4 SubmittersRCV000256553 RCV001017220 RCV001386875

NM_007294.4(BRCA1):c.1102G>T (p.Glu368Ter)

SNV
Germline

Chr17:43094429

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Reviewed By Expert Panel

CA000736

rs_80357139

8 SubmittersRCV000111548 RCV000448702 RCV000496434 RCV004696663

NM_007294.4(BRCA1):c.1106A>G (p.Asp369Gly)

SNV
Germline

Chr17:43094425

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA000740

rs_80357416

4 SubmittersRCV000111550 RCV001009906 RCV003644876

NM_007294.4(BRCA1):c.110C>A (p.Thr37Lys)

SNV
Germline

Chr17:43115750

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Pancreatic cancer, susceptibility to, 4
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 1
Fanconi anemia, complementation group S
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA000742

rs_80356880

7 SubmittersRCV000111781 RCV000763401 RCV001378528 RCV002433536

NM_007294.4(BRCA1):c.110C>G (p.Thr37Arg)

SNV
Germline

Chr17:43115750

Pathogenic/Likely pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA000743

rs_80356880

6 SubmittersRCV000077482 RCV000164121 RCV001389942

NM_007294.4(BRCA1):c.1115G>A (p.Trp372Ter)

SNV
Germline

Chr17:43094416

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Fanconi anemia, complementation group S
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA000745

rs_397508838

6 SubmittersRCV000241007 RCV000509759 RCV000767397 RCV001328427

NM_007294.4(BRCA1):c.1116G>A (p.Trp372Ter)

SNV
Germline/somatic

Chr17:43094415

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Ovarian neoplasm

Reviewed By Expert Panel

CA000746

rs_80357468

13 SubmittersRCV000111553 RCV000131844 RCV000235123 RCV000496759 RCV000785203

NM_007294.4(BRCA1):c.1121C>T (p.Thr374Ile)

SNV
Germline

Chr17:43094410

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA000750

rs_80357235

5 SubmittersRCV000111554 RCV000575806 RCV001358702 RCV002514227

NM_007294.4(BRCA1):c.1138C>T (p.Gln380Ter)

SNV
Germline

Chr17:43094393

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA000759

rs_397508840

7 SubmittersRCV000241219 RCV001384481 RCV001528923 RCV004018954

NM_007294.4(BRCA1):c.1141A>T (p.Lys381Ter)

SNV
Germline

Chr17:43094390

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Reviewed By Expert Panel

CA000760

rs_80357385

8 SubmittersRCV000111561 RCV000779890 RCV002453357 RCV006258966

NM_007294.4(BRCA1):c.114G>T (p.Lys38Asn)

SNV
Germline

Chr17:43115746

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA000763

rs_1800062

7 SubmittersRCV000111800 RCV000588216 RCV005638413 RCV006461316

NM_007294.4(BRCA1):c.115T>A (p.Cys39Ser)

SNV
Germline

Chr17:43115745

Pathogenic/Likely pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Inherited breast cancer and ovarian cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA000765

rs_80357164

10 SubmittersRCV000111803 RCV000509615 RCV000759489 RCV000781001 RCV005644502

NM_007294.4(BRCA1):c.115T>C (p.Cys39Arg)

SNV
Germline

Chr17:43115745

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Breast and/or ovarian cancer

Reviewed By Expert Panel

CA000766

rs_80357164

18 SubmittersRCV000077483 RCV000496824 RCV000570028 RCV000985365 RCV001270963

NM_007294.4(BRCA1):c.115T>G (p.Cys39Gly)

SNV
Germline

Chr17:43115745

Pathogenic/Likely pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
not specified
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA000767

rs_80357164

8 SubmittersRCV000258451 RCV000496529 RCV001836724 RCV002267819

NM_007294.4(BRCA1):c.1193C>A (p.Ser398Ter)

SNV
Germline

Chr17:43094338

Pathogenic

Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA000785

rs_80357068

5 SubmittersRCV000577455 RCV000661305 RCV002514228

NM_007294.4(BRCA1):c.1193C>G (p.Ser398Ter)

SNV
Germline

Chr17:43094338

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Ovarian neoplasm
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA000786

rs_80357068

5 SubmittersRCV000111564 RCV000564671 RCV000785205 RCV001386123

NM_007294.4(BRCA1):c.1204G>T (p.Glu402Ter)

SNV
Germline

Chr17:43094327

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA000794

rs_273897655

9 SubmittersRCV000111565 RCV001381519 RCV001689606 RCV002345340

NM_007294.4(BRCA1):c.1214C>A (p.Ser405Ter)

SNV
Germline/somatic

Chr17:43094317

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Ovarian neoplasm
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA000796

rs_80357481

4 SubmittersRCV000111568 RCV000785360 RCV003644877

NM_007294.4(BRCA1):c.122A>G (p.His41Arg)

SNV
Germline

Chr17:43115738

Pathogenic

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA000805

rs_80357276

11 SubmittersRCV000047383 RCV000111820 RCV000484980 RCV000569789

NM_007294.4(BRCA1):c.1231G>A (p.Asp411Asn)

SNV
Germline

Chr17:43094300

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA000807

rs_80357301

4 SubmittersRCV000111569 RCV000223347 RCV001342656

NM_007294.4(BRCA1):c.124A>G (p.Ile42Val)

SNV
Germline

Chr17:43115736

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA000820

rs_80357163

10 SubmittersRCV000083167 RCV000775195 RCV001175357 RCV001398773 RCV003476945

NM_007294.4(BRCA1):c.1250A>G (p.Asn417Ser)

SNV
Germline

Chr17:43094281

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial pancreatic carcinoma
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA000822

rs_80357113

13 SubmittersRCV000047392 RCV000083168 RCV000166228 RCV001719800 RCV005357375

NM_007294.4(BRCA1):c.1251T>G (p.Asn417Lys)

SNV
Germline

Chr17:43094280

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA000824

rs_80357197

5 SubmittersRCV000111572 RCV000509847 RCV001338859

NM_007294.4(BRCA1):c.1252G>T (p.Glu418Ter)

SNV
Germline

Chr17:43094279

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Fanconi anemia, complementation group S
Condition: not provided

Reviewed By Expert Panel

CA000825

rs_80357083

9 SubmittersRCV000111573 RCV000566344 RCV001852985 RCV005357376 RCV005243109

NM_007294.4(BRCA1):c.1258G>T (p.Asp420Tyr)

SNV
Germline

Chr17:43094273

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA000830

rs_80357488

9 SubmittersRCV000047396 RCV000111575 RCV000222994 RCV001284387 RCV002509191

NM_007294.4(BRCA1):c.1262A>G (p.Glu421Gly)

SNV
Germline

Chr17:43094269

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA000833

rs_397508849

3 SubmittersRCV000577342 RCV001351580 RCV003157325

NM_007294.4(BRCA1):c.1266T>G (p.Tyr422Ter)

SNV
Germline

Chr17:43094265

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA000836

rs_80357417

7 SubmittersRCV000111578 RCV000568841 RCV001857387

NM_007294.4(BRCA1):c.130T>A (p.Cys44Ser)

SNV
Germline

Chr17:43115730

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA000854

rs_80357327

17 SubmittersRCV000111838 RCV000222092 RCV000444956 RCV000589017

NM_007294.4(BRCA1):c.130T>C (p.Cys44Arg)

SNV
Germline

Chr17:43115730

Pathogenic

Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome

Criteria Provided
Single Submitter

CA000855

rs_80357327

3 SubmittersRCV000577049 RCV001077010 RCV001385108

NM_007294.4(BRCA1):c.1310A>C (p.His437Pro)

SNV
Germline

Chr17:43094221

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA000857

rs_80357255

5 SubmittersRCV000111586 RCV000509714 RCV001341132 RCV004794354

NM_007294.4(BRCA1):c.1319T>C (p.Leu440Ser)

SNV
Germline

Chr17:43094212

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA000860

rs_273897656

4 SubmittersRCV000111587 RCV001361576 RCV002381347

NM_007294.4(BRCA1):c.131G>A (p.Cys44Tyr)

SNV
Germline/somatic

Chr17:43115729

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Malignant germ cell tumor

Reviewed By Expert Panel

CA000861

rs_80357446

14 SubmittersRCV000077486 RCV000235119 RCV000509871 RCV001386839 RCV006253755

NM_007294.4(BRCA1):c.131G>T (p.Cys44Phe)

SNV
Germline

Chr17:43115729

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Breast and/or ovarian cancer
Breast-ovarian cancer, familial, susceptibility to, 1
Pancreatic cancer, susceptibility to, 4
Familial cancer of breast
Fanconi anemia, complementation group S
Breast-ovarian cancer, familial, susceptibility to, 1
Familial cancer of breast
Fanconi anemia, complementation group S

Reviewed By Expert Panel

CA000862

rs_80357446

27 SubmittersRCV000077487 RCV000166901 RCV000434130 RCV000496386 RCV000735465 RCV000763011 RCV005394278

NM_007294.4(BRCA1):c.1326T>A (p.Cys442Ter)

SNV
Germline

Chr17:43094205

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
BRCA1-related disorder

Reviewed By Expert Panel

CA000865

rs_397508854

9 SubmittersRCV000256823 RCV000481208 RCV000570951 RCV000586087 RCV004730863

NM_007294.4(BRCA1):c.1333G>C (p.Glu445Gln)

SNV
Germline

Chr17:43094198

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
not specified
BRCA1-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA000868

rs_80356915

13 SubmittersRCV000111589 RCV000129529 RCV000347705 RCV000709488 RCV001192442 RCV004803954

NM_007294.4(BRCA1):c.1333G>T (p.Glu445Ter)

SNV
Germline

Chr17:43094198

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA000870

rs_80356915

5 SubmittersRCV000111590 RCV000496878 RCV001192080

NM_007294.4(BRCA1):c.134+3A>C

SNV
Germline

Chr17:43115723

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA000885

rs_80358064

9 SubmittersRCV000111851 RCV001185213 RCV001389662 RCV001725960

NM_007294.4(BRCA1):c.135-1G>C

SNV
Germline

Chr17:43106534

Pathogenic

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA000894

rs_80358158

7 SubmittersRCV000047434 RCV000111858 RCV000571550 RCV001725961

NM_007294.4(BRCA1):c.1352C>G (p.Ser451Ter)

SNV
Germline

Chr17:43094179

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Reviewed By Expert Panel

CA000899

rs_80356891

5 SubmittersRCV000111594 RCV001852986 RCV005298441 RCV006258967

NM_007294.4(BRCA1):c.1361G>A (p.Ser454Asn)

SNV
Germline

Chr17:43094170

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA000909

rs_80357181

9 SubmittersRCV000047441 RCV000111596 RCV000510012 RCV000985367 RCV003323378

NM_007294.4(BRCA1):c.1367T>C (p.Ile456Thr)

SNV
Germline

Chr17:43094164

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA000911

rs_80357360

8 SubmittersRCV000047443 RCV000111597 RCV000130503 RCV000383569 RCV002281741

NM_007294.4(BRCA1):c.1381T>C (p.Phe461Leu)

SNV
Germline

Chr17:43094150

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Breast neoplasm
Hereditary cancer-predisposing syndrome
Condition: not provided
Pancreatic cancer, susceptibility to, 4
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 1
Fanconi anemia, complementation group S

Criteria Provided
Conflicting Classifications

CA000918

rs_62625300

12 SubmittersRCV000047448 RCV000111599 RCV000148411 RCV000215677 RCV000679681 RCV000764125

NM_007294.4(BRCA1):c.1384G>A (p.Gly462Arg)

SNV
Germline

Chr17:43094147

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Breast and/or ovarian cancer
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
BRCA1-related disorder

Criteria Provided
Conflicting Classifications

CA000922

rs_80357221

15 SubmittersRCV000047451 RCV000077488 RCV000148410 RCV000129965 RCV000289723 RCV001532904 RCV004554648

NM_007294.4(BRCA1):c.1391C>T (p.Thr464Ile)

SNV
Germline

Chr17:43094140

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA000932

rs_62625301

7 SubmittersRCV000111605 RCV000164838 RCV001308704

NM_007294.4(BRCA1):c.1396C>G (p.Arg466Gly)

SNV
Germline

Chr17:43094135

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Breast and/or ovarian cancer

Criteria Provided
Conflicting Classifications

CA000938

rs_80356964

14 SubmittersRCV000111607 RCV000509950 RCV000586875 RCV001339849 RCV003492376

NM_007294.4(BRCA1):c.139T>G (p.Cys47Gly)

SNV
Germline

Chr17:43106529

Likely pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome

Criteria Provided
Single Submitter

CA000943

rs_80357370

3 SubmittersRCV000111868 RCV000590262

NM_007294.4(BRCA1):c.1406C>G (p.Ala469Gly)

SNV
Germline

Chr17:43094125

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified

Criteria Provided
Conflicting Classifications

CA000950

rs_80357073

5 SubmittersRCV000111611 RCV001301251 RCV002390196 RCV004767043

NM_007294.4(BRCA1):c.140G>A (p.Cys47Tyr)

SNV
Germline

Chr17:43106528

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Reviewed By Expert Panel

CA000951

rs_80357150

11 SubmittersRCV000258496 RCV000590698 RCV000775194 RCV001729371

NM_007294.4(BRCA1):c.140G>T (p.Cys47Phe)

SNV
Germline

Chr17:43106528

Pathogenic/Likely pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Familial cancer of breast
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA000952

rs_80357150

14 SubmittersRCV000111876 RCV000775193 RCV000781002 RCV002250525 RCV003493427

NM_007294.4(BRCA1):c.1421T>G (p.Leu474Ter)

SNV
Germline

Chr17:43094110

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA000958

rs_80357490

8 SubmittersRCV000111615 RCV000561528 RCV000985368 RCV001384925

NM_007294.4(BRCA1):c.1448T>C (p.Ile483Thr)

SNV
Germline

Chr17:43094083

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA000970

rs_80357489

8 SubmittersRCV000047479 RCV000083170 RCV000478226 RCV000575874

NM_007294.4(BRCA1):c.1450G>T (p.Gly484Ter)

SNV
Germline

Chr17:43094081

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA000973

rs_80357304

12 SubmittersRCV000111620 RCV000496826 RCV001284535 RCV002258786

NM_007294.4(BRCA1):c.1465G>A (p.Glu489Lys)

SNV
Germline

Chr17:43094066

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA000983

rs_80357167

3 SubmittersRCV000111625 RCV001315065 RCV003157328

NM_007294.4(BRCA1):c.1465G>T (p.Glu489Ter)

SNV
Germline

Chr17:43094066

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Breast neoplasm
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA000984

rs_80357167

6 SubmittersRCV000256732 RCV000519520 RCV000677813 RCV001386706 RCV005402834

NM_007294.4(BRCA1):c.146T>G (p.Leu49Arg)

SNV
Germline

Chr17:43106522

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Familial cancer of breast
Fanconi anemia, complementation group S

Criteria Provided
Conflicting Classifications

CA000986

rs_273897660

7 SubmittersRCV000111885 RCV001011756 RCV001301250 RCV005357377

NM_007294.4(BRCA1):c.1471C>T (p.Gln491Ter)

SNV
Germline

Chr17:43094060

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Malignant tumor of breast

Reviewed By Expert Panel

CA000988

rs_62625303

13 SubmittersRCV000111626 RCV000131842 RCV000496566 RCV000657622 RCV001353507

NM_007294.4(BRCA1):c.1472A>G (p.Gln491Arg)

SNV
Germline

Chr17:43094059

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA000989

rs_80357376

3 SubmittersRCV000111627 RCV002514229 RCV003157329

NM_007294.4(BRCA1):c.1486C>A (p.Arg496Ser)

SNV
Germline

Chr17:43094045

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA000995

rs_28897676

4 SubmittersRCV000111628 RCV001364594 RCV002390197

NM_007294.4(BRCA1):c.1508A>G (p.Lys503Arg)

SNV
Germline

Chr17:43094023

Conflicting classifications of pathogenicity

Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified

Criteria Provided
Conflicting Classifications

CA001011

rs_62625304

10 SubmittersRCV000047502 RCV000111633 RCV000132145 RCV000195388 RCV000780972

NM_007294.4(BRCA1):c.1510C>T (p.Arg504Cys)

SNV
Germline

Chr17:43094021

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
not specified
Familial cancer of breast
Condition: not provided
Malignant tumor of breast
BRCA1-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA001015

rs_80357445

14 SubmittersRCV000047505 RCV000111635 RCV000129280 RCV000237007 RCV000207331 RCV000588157 RCV001354022 RCV004803957

NM_007294.4(BRCA1):c.1513A>T (p.Lys505Ter)

SNV
Germline

Chr17:43094018

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA001022

rs_397508877

6 SubmittersRCV000257326 RCV000574347 RCV001389314

NM_007294.4(BRCA1):c.1529C>G (p.Ser510Ter)

SNV
Germline

Chr17:43094002

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Reviewed By Expert Panel

CA001030

rs_80357427

12 SubmittersRCV000111643 RCV000583519 RCV001384914 RCV001701732

NM_007294.4(BRCA1):c.1544A>G (p.Glu515Gly)

SNV
Germline

Chr17:43093987

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA001036

rs_397508881

3 SubmittersRCV000577523 RCV001348060 RCV003157330

NM_007294.4(BRCA1):c.1555A>C (p.Lys519Gln)

SNV
Germline

Chr17:43093976

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified

Criteria Provided
Conflicting Classifications

CA001041

rs_397508882

8 SubmittersRCV000480207 RCV000775177 RCV001301720 RCV001194434

NM_007294.4(BRCA1):c.1561G>A (p.Ala521Thr)

SNV
Germline

Chr17:43093970

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome
Condition: not provided
BRCA1-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA001046

rs_80357122

15 SubmittersRCV000111646 RCV000130445 RCV000120288 RCV000195389 RCV000586560 RCV004803959

NM_007294.4(BRCA1):c.1568T>G (p.Leu523Trp)

SNV
Germline

Chr17:43093963

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 1
not specified

Criteria Provided
Conflicting Classifications

CA001049

rs_397508885

8 SubmittersRCV000047527 RCV000129756 RCV001753466 RCV003335081 RCV005055549

NM_007294.4(BRCA1):c.1571C>T (p.Ala524Val)

SNV
Germline

Chr17:43093960

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
BRCA1-related cancer predisposition
not specified

Criteria Provided
Conflicting Classifications

CA001052

rs_80357333

13 SubmittersRCV000047529 RCV000111648 RCV000167144 RCV000587950 RCV004803960 RCV006456657

NM_007294.4(BRCA1):c.1573G>A (p.Val525Ile)

SNV
Germline

Chr17:43093958

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Familial cancer of breast
Breast and/or ovarian cancer

Criteria Provided
Conflicting Classifications

CA001053

rs_80357273

14 SubmittersRCV000047530 RCV000077491 RCV000214482 RCV000417626 RCV000985370 RCV002272044 RCV003492377

NM_007294.4(BRCA1):c.1576C>T (p.Gln526Ter)

SNV
Germline

Chr17:43093955

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA001054

rs_80356984

6 SubmittersRCV000111649 RCV000131839 RCV002514231

NM_007294.4(BRCA1):c.1581G>C (p.Lys527Asn)

SNV
Germline

Chr17:43093950

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA001056

rs_80357493

6 SubmittersRCV000111650 RCV000132496 RCV001313648 RCV003476946

NM_007294.4(BRCA1):c.1600C>T (p.Gln534Ter)

SNV
Germline

Chr17:43093931

Pathogenic

Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Breast and/or ovarian cancer
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA001062

rs_142074233

11 SubmittersRCV000236467 RCV000238846 RCV000781028 RCV001270966 RCV002399410

NM_007294.4(BRCA1):c.1601A>G (p.Gln534Arg)

SNV
Germline

Chr17:43093930

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA001064

rs_80357173

8 SubmittersRCV000111652 RCV000572214 RCV000709486 RCV006258969

NM_007294.4(BRCA1):c.1612C>T (p.Gln538Ter)

SNV
Germline

Chr17:43093919

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
not specified
Hereditary cancer-predisposing syndrome
Condition: not provided

Reviewed By Expert Panel

CA001073

rs_80356893

14 SubmittersRCV000077492 RCV000496261 RCV000507406 RCV000569665 RCV000585637

NM_007294.4(BRCA1):c.1621C>T (p.Gln541Ter)

SNV
Germline

Chr17:43093910

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Condition: not provided
Ovarian neoplasm
Hereditary cancer-predisposing syndrome
Ovarian cancer

Reviewed By Expert Panel

CA001079

rs_80356904

20 SubmittersRCV000077493 RCV000496549 RCV000507893 RCV000785206 RCV001012442 RCV004764848

NM_007294.4(BRCA1):c.1630C>T (p.Gln544Ter)

SNV
Germline

Chr17:43093901

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Reviewed By Expert Panel

CA001081

rs_80356952

9 SubmittersRCV000111656 RCV000496741 RCV000581056 RCV004696664

NM_007294.4(BRCA1):c.1642A>G (p.Ile548Val)

SNV
Germline

Chr17:43093889

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
not specified

Criteria Provided
Conflicting Classifications

CA001087

rs_80356981

9 SubmittersRCV000111659 RCV001349061 RCV001526173 RCV001811334 RCV002250526 RCV005406781

NM_007294.4(BRCA1):c.1669A>G (p.Thr557Ala)

SNV
Germline

Chr17:43093862

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA001099

rs_397508895

3 SubmittersRCV000577066 RCV002514233 RCV003157333

NM_007294.4(BRCA1):c.1676G>T (p.Gly559Val)

SNV
Germline

Chr17:43093855

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA001104

rs_80356980

3 SubmittersRCV000111662 RCV001852987 RCV003157334

NM_007294.4(BRCA1):c.1703C>G (p.Pro568Arg)

SNV
Germline

Chr17:43093828

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA001116

rs_80356910

7 SubmittersRCV000111667 RCV000129818 RCV000479365 RCV001364082

NM_007294.4(BRCA1):c.1712T>C (p.Ile571Thr)

SNV
Germline

Chr17:43093819

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Breast and/or ovarian cancer

Criteria Provided
Conflicting Classifications

CA001121

rs_80357159

13 SubmittersRCV000047565 RCV000111668 RCV000129336 RCV000173829 RCV000679683 RCV003492378

NM_007294.4(BRCA1):c.1723G>A (p.Glu575Lys)

SNV
Germline

Chr17:43093808

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 1
Pancreatic cancer, susceptibility to, 4
Fanconi anemia, complementation group S
Breast-ovarian cancer, familial, susceptibility to, 1
Familial cancer of breast
BRCA1-related cancer predisposition
not specified

Criteria Provided
Conflicting Classifications

CA001127

rs_397508902

12 SubmittersRCV000166298 RCV000167785 RCV000656786 RCV000662632 RCV002483062 RCV004803961 RCV006456658

NM_007294.4(BRCA1):c.1729G>T (p.Glu577Ter)

SNV
Germline

Chr17:43093802

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA001133

rs_397508903

8 SubmittersRCV000257813 RCV000496331 RCV000579407

NM_007294.4(BRCA1):c.172C>G (p.Pro58Ala)

SNV
Germline

Chr17:43106496

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
not specified

Criteria Provided
Conflicting Classifications

CA001136

rs_397508904

7 SubmittersRCV000481979 RCV000575682 RCV001077107 RCV001314278 RCV002509192

NM_007294.4(BRCA1):c.1733C>A (p.Ser578Tyr)

SNV
Germline

Chr17:43093798

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA001138

rs_80356939

5 SubmittersRCV000111672 RCV000567663 RCV001302954

NM_007294.4(BRCA1):c.1747A>T (p.Lys583Ter)

SNV
Germline

Chr17:43093784

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA001145

rs_80356928

4 SubmittersRCV000111673 RCV001381520

NM_007294.4(BRCA1):c.1756C>T (p.Pro586Ser)

SNV
Germline

Chr17:43093775

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA001146

rs_80357153

4 SubmittersRCV000111674 RCV001013043 RCV001321828

NM_007294.4(BRCA1):c.1768A>G (p.Ser590Gly)

SNV
Germline

Chr17:43093763

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA001151

rs_80357454

6 SubmittersRCV000111676 RCV001013084 RCV001369646

NM_007294.4(BRCA1):c.1772T>C (p.Ile591Thr)

SNV
Germline

Chr17:43093759

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome
Condition: not provided
Fanconi anemia, complementation group S
Breast-ovarian cancer, familial, susceptibility to, 1
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA001154

rs_80356859

12 SubmittersRCV000083172 RCV000220799 RCV000438467 RCV001415715 RCV002262608 RCV005357380

NM_007294.4(BRCA1):c.1786C>G (p.Leu596Val)

SNV
Germline

Chr17:43093745

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified

Criteria Provided
Conflicting Classifications

CA001158

rs_80357371

7 SubmittersRCV000111683 RCV001013178 RCV001368144 RCV002265583

NM_007294.4(BRCA1):c.1789G>T (p.Glu597Ter)

SNV
Germline

Chr17:43093742

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA001161

rs_55650082

10 SubmittersRCV000111684 RCV000496902 RCV003137587 RCV002399412

NM_007294.4(BRCA1):c.178C>T (p.Gln60Ter)

SNV
Germline

Chr17:43106490

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Ovarian cancer
Fanconi anemia, complementation group S

Reviewed By Expert Panel

CA001162

rs_80357471

14 SubmittersRCV000077496 RCV000496952 RCV000505825 RCV002399413 RCV004698337 RCV005357381

NM_007294.4(BRCA1):c.1793T>A (p.Leu598Ter)

SNV
Germline

Chr17:43093738

Pathogenic

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided

Reviewed By Expert Panel

CA001163

rs_80357118

12 SubmittersRCV000047587 RCV000111686 RCV000219724 RCV003236773

NM_007294.4(BRCA1):c.1793T>G (p.Leu598Ter)

SNV
Germline

Chr17:43093738

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 1
Fanconi anemia, complementation group S
Inherited ovarian cancer (without breast cancer)

Reviewed By Expert Panel

CA001164

rs_80357118

10 SubmittersRCV000111687 RCV000162846 RCV001852988 RCV005364936 RCV006258970

NM_007294.4(BRCA1):c.1808C>G (p.Ser603Ter)

SNV
Germline

Chr17:43093723

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA001174

rs_397508909

4 SubmittersRCV000256524 RCV002408551 RCV003529953

NM_007294.4(BRCA1):c.181T>C (p.Cys61Arg)

SNV
Germline

Chr17:43106487

Pathogenic/Likely pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA001181

rs_28897672

8 SubmittersRCV000111959 RCV000759499 RCV001328445 RCV004601098

NM_007294.4(BRCA1):c.182G>A (p.Cys61Tyr)

SNV
Germline

Chr17:43106486

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA001191

rs_80357093

12 SubmittersRCV000077497 RCV000235674 RCV000496241 RCV000775191

NM_007294.4(BRCA1):c.1840A>T (p.Lys614Ter)

SNV
Germline

Chr17:43093691

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA001199

rs_80357282

7 SubmittersRCV000111698 RCV000496629 RCV005520229

NM_007294.4(BRCA1):c.1868T>C (p.Leu623Pro)

SNV
Germline

Chr17:43093663

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA001214

rs_397508915

5 SubmittersRCV000486928 RCV000709485 RCV002408552

NM_007294.4(BRCA1):c.1870G>A (p.Glu624Lys)

SNV
Germline

Chr17:43093661

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA001215

rs_80356950

3 SubmittersRCV000111702 RCV001308727 RCV003157338

NM_007294.4(BRCA1):c.1879G>A (p.Val627Ile)

SNV
Germline

Chr17:43093652

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA001220

rs_80357425

10 SubmittersRCV000047616 RCV000111712 RCV000130566 RCV000344730 RCV002267820

NM_007294.4(BRCA1):c.1881C>G (p.Val627=)

SNV
Germline

Chr17:43093650

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Familial cancer of breast
Fanconi anemia, complementation group S

Criteria Provided
Conflicting Classifications

CA001223

rs_80356838

17 SubmittersRCV000111719 RCV000165591 RCV000212164 RCV000586671 RCV001408201 RCV005357382

NM_007294.4(BRCA1):c.1884T>G (p.Ser628Arg)

SNV
Germline

Chr17:43093647

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA001226

rs_80357495

9 SubmittersRCV000111720 RCV000131931 RCV001337980

NM_007294.4(BRCA1):c.188T>A (p.Leu63Ter)

SNV
Germline

Chr17:43106480

Pathogenic

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Breast neoplasm
Condition: not provided
Gastric cancer

Reviewed By Expert Panel

CA001227

rs_80357086

22 SubmittersRCV000047620 RCV000077499 RCV000162847 RCV000413802 RCV000478996 RCV003162400

NM_007294.4(BRCA1):c.1895G>A (p.Ser632Asn)

SNV
Germline

Chr17:43093636

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
BRCA1-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA001235

rs_80356983

11 SubmittersRCV000047624 RCV000111724 RCV000221118 RCV001588879 RCV004554652 RCV004525866

NM_007294.4(BRCA1):c.1897C>T (p.Pro633Ser)

SNV
Germline

Chr17:43093634

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
BRCA1-related disorder
BRCA1-related cancer predisposition
not specified

Criteria Provided
Conflicting Classifications

CA001237

rs_80356902

14 SubmittersRCV000077500 RCV000510032 RCV000656639 RCV001085614 RCV004554653 RCV004803962 RCV006268098

NM_007294.4(BRCA1):c.189A>T (p.Leu63Phe)

SNV
Germline

Chr17:43106479

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
not specified
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA001240

rs_80356956

13 SubmittersRCV000047628 RCV000111972 RCV000485649 RCV000567313 RCV000590194

NM_007294.4(BRCA1):c.1900C>T (p.Pro634Ser)

SNV
Germline

Chr17:43093631

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
BRCA1-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA001241

rs_80357056

6 SubmittersRCV000111728 RCV001187831 RCV001857388 RCV004803963

NM_007294.4(BRCA1):c.190T>C (p.Cys64Arg)

SNV
Germline

Chr17:43106478

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Hereditary breast ovarian cancer syndrome
Familial cancer of breast
Gastric cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA001249

rs_80357064

17 SubmittersRCV000083174 RCV000130787 RCV000496744 RCV001284284 RCV001195433 RCV002247441 RCV003162401

NM_007294.4(BRCA1):c.1916T>A (p.Leu639Ter)

SNV
Germline

Chr17:43093615

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA001259

rs_80357267

10 SubmittersRCV000083175 RCV000131894 RCV000212165 RCV000496730

NM_007294.4(BRCA1):c.191G>A (p.Cys64Tyr)

SNV
Germline

Chr17:43106477

Pathogenic

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Pancreatic cancer, susceptibility to, 4
BRCA1-related cancer predisposition
Inherited prostate cancer

Reviewed By Expert Panel

CA001262

rs_55851803

29 SubmittersRCV000047641 RCV000077501 RCV000131896 RCV000236464 RCV003334380 RCV004566890 RCV006277695

NM_007294.4(BRCA1):c.1934C>A (p.Ser645Tyr)

SNV
Germline

Chr17:43093597

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA001280

rs_80357129

8 SubmittersRCV000047645 RCV000111735 RCV000129530 RCV000496441 RCV001731343

NM_007294.4(BRCA1):c.1945G>C (p.Glu649Gln)

SNV
Germline

Chr17:43093586

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA001285

rs_80356907

9 SubmittersRCV000047648 RCV000111736 RCV000563837 RCV001723637

NM_007294.4(BRCA1):c.1967A>G (p.Asn656Ser)

SNV
Germline

Chr17:43093564

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA001313

rs_397508925

5 SubmittersRCV000584436 RCV000576937 RCV001306991

NM_007294.4(BRCA1):c.1969C>T (p.Gln657Ter)

SNV
Germline

Chr17:43093562

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary breast ovarian cancer syndrome
Ovarian carcinoma

Reviewed By Expert Panel

CA001314

rs_397508926

8 SubmittersRCV000256717 RCV000657568 RCV000779889 RCV001650885

NM_007294.4(BRCA1):c.1974G>C (p.Met658Ile)

SNV
Germline

Chr17:43093557

Conflicting classifications of pathogenicity

not specified
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
BRCA1-related disorder

Criteria Provided
Conflicting Classifications

CA001318

rs_55678461

19 SubmittersRCV000047669 RCV000111744 RCV000130602 RCV000590433 RCV001082658 RCV004554654

NM_007294.4(BRCA1):c.1984C>T (p.His662Tyr)

SNV
Germline

Chr17:43093547

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA001320

rs_397508927

5 SubmittersRCV000129437 RCV001302938 RCV002222372 RCV004791249

NM_007294.4(BRCA1):c.1985A>G (p.His662Arg)

SNV
Germline

Chr17:43093546

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA001321

rs_80357494

3 SubmittersRCV000111745 RCV002513654 RCV003157345

NM_007294.4(BRCA1):c.1999C>T (p.Gln667Ter)

SNV
Germline

Chr17:43093532

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA001326

rs_80356889

7 SubmittersRCV000111748 RCV000162848 RCV000236983 RCV001000822 RCV001388632

NM_007294.4(BRCA1):c.1A>G (p.Met1Val)

SNV
Germline

Chr17:43124096

Pathogenic/Likely pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Breast neoplasm
Hereditary breast ovarian cancer syndrome
Malignant tumor of breast
Familial cancer of breast
Inherited breast cancer and ovarian cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA001332

rs_80357287

24 SubmittersRCV000077503 RCV000131905 RCV000212153 RCV000412727 RCV000496638 RCV001270347 RCV002250529 RCV005252718

NM_007294.4(BRCA1):c.2008G>A (p.Glu670Lys)

SNV
Germline

Chr17:43093523

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA001338

rs_80357029

9 SubmittersRCV000047680 RCV000111749 RCV000132211 RCV001192476 RCV002477164

NM_007294.4(BRCA1):c.2014A>T (p.Lys672Ter)

SNV
Germline

Chr17:43093517

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA001343

rs_397508929

11 SubmittersRCV000241129 RCV000580324 RCV001811335 RCV003529956

NM_007294.4(BRCA1):c.2017G>T (p.Glu673Ter)

SNV
Germline

Chr17:43093514

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA001345

rs_80357391

11 SubmittersRCV000111751 RCV000131903 RCV000212166 RCV001387510

NM_007294.4(BRCA1):c.2035A>T (p.Lys679Ter)

SNV
Germline

Chr17:43093496

Pathogenic

Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Breast and/or ovarian cancer
BRCA1-related disorder
BRCA1-related cancer predisposition

Reviewed By Expert Panel

CA001353

rs_80357082

25 SubmittersRCV000047689 RCV000074569 RCV000077505 RCV000131904 RCV000735497 RCV004758622 RCV004803966

NM_007294.4(BRCA1):c.203T>G (p.Ile68Arg)

SNV
Germline

Chr17:43106465

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA001357

rs_80357116

5 SubmittersRCV000112002 RCV000590778 RCV001315867

NM_007294.4(BRCA1):c.2050C>T (p.Pro684Ser)

SNV
Germline

Chr17:43093481

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Fanconi anemia, complementation group S
Breast-ovarian cancer, familial, susceptibility to, 1
Pancreatic cancer, susceptibility to, 4
Familial cancer of breast
Breast and/or ovarian cancer
BRCA1-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA001361

rs_397508934

13 SubmittersRCV000047694 RCV000130395 RCV000485811 RCV000586501 RCV000764123 RCV000768616 RCV004803967

NM_007294.4(BRCA1):c.2059C>T (p.Gln687Ter)

SNV
Germline

Chr17:43093472

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Breast neoplasm
Malignant tumor of breast
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA001363

rs_273898674

11 SubmittersRCV000111755 RCV000216253 RCV000240699 RCV001354843 RCV001857389

NM_007294.4(BRCA1):c.2083G>A (p.Asp695Asn)

SNV
Germline

Chr17:43093448

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
not specified
Breast neoplasm
Condition: not provided
Hereditary breast ovarian cancer syndrome
BRCA1-related disorder

Criteria Provided
Conflicting Classifications

CA001383

rs_28897681

14 SubmittersRCV000111765 RCV000130220 RCV000440541 RCV000677807 RCV000985379 RCV001324951 RCV004554655

NM_007294.4(BRCA1):c.2086A>G (p.Thr696Ala)

SNV
Germline

Chr17:43093445

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA001385

rs_80357441

5 SubmittersRCV000047707 RCV000111767 RCV000562283 RCV003319315

NM_007294.4(BRCA1):c.2105T>G (p.Leu702Ter)

SNV
Germline

Chr17:43093426

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Reviewed By Expert Panel

CA001394

rs_80357298

7 SubmittersRCV000111771 RCV001383911 RCV003352759 RCV003476947

NM_007294.4(BRCA1):c.212+1G>C

SNV
Germline/somatic

Chr17:43106455

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Neoplasm

Criteria Provided
Multiple Submitters
No Conflicts

CA001406

rs_80358042

8 SubmittersRCV000112018 RCV000496773 RCV005229871

NM_007294.4(BRCA1):c.212+1G>T

SNV
Germline/somatic

Chr17:43106455

Pathogenic

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Malignant tumor of breast

Reviewed By Expert Panel

CA001407

rs_80358042

16 SubmittersRCV000047717 RCV000112019 RCV000218717 RCV000478644 RCV001353644

NM_007294.4(BRCA1):c.212+3A>G

SNV
Germline

Chr17:43106453

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome
Breast and/or ovarian cancer
Malignant tumor of breast
Condition: not provided
Familial cancer of breast
BRCA1-related cancer predisposition

Reviewed By Expert Panel

CA001412

rs_80358083

19 SubmittersRCV000083178 RCV000509906 RCV000506191 RCV000496318 RCV000735529 RCV001355367 RCV001528962 RCV002250530 RCV004566891

NM_007294.4(BRCA1):c.2120G>A (p.Gly707Asp)

SNV
Germline

Chr17:43093411

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA001399

rs_80357192

8 SubmittersRCV000111774 RCV000213201 RCV001351015 RCV004589538 RCV004782035

NM_007294.4(BRCA1):c.212G>A (p.Arg71Lys)

SNV
Germline

Chr17:43106456

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Pancreatic cancer, susceptibility to, 4
Breast-ovarian cancer, familial, susceptibility to, 1
Fanconi anemia, complementation group S

Criteria Provided
Multiple Submitters
No Conflicts

CA001420

rs_80356913

11 SubmittersRCV000112023 RCV000503702 RCV001180531 RCV001384425 RCV004795985

NM_007294.4(BRCA1):c.213-1G>A

SNV
Germline/somatic

Chr17:43104957

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Breast neoplasm
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA001430

rs_80358146

6 SubmittersRCV000112026 RCV000240764 RCV001385288 RCV002415504

NM_007294.4(BRCA1):c.2158G>A (p.Glu720Lys)

SNV
Germline/somatic

Chr17:43093373

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA001444

rs_80356875

6 SubmittersRCV000077506 RCV000164061 RCV001318153 RCV004719683

NM_007294.4(BRCA1):c.216C>A (p.Ser72Arg)

SNV
Germline

Chr17:43104953

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA001449

rs_80356967

7 SubmittersRCV000077507 RCV001312408 RCV002426600

NM_007294.4(BRCA1):c.2183G>A (p.Arg728Lys)

SNV
Germline

Chr17:43093348

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Malignant tumor of breast

Criteria Provided
Conflicting Classifications

CA001458

rs_80357335

13 SubmittersRCV000077510 RCV000129301 RCV000658781 RCV001340841 RCV001354681

NM_007294.4(BRCA1):c.2188G>T (p.Glu730Ter)

SNV
Germline

Chr17:43093343

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Malignant tumor of breast
Hereditary breast ovarian cancer syndrome
Inherited ovarian cancer (without breast cancer)

Reviewed By Expert Panel

CA001461

rs_80357058

5 SubmittersRCV000111782 RCV001354410 RCV002513655 RCV006436419

NM_007294.4(BRCA1):c.2194G>T (p.Glu732Ter)

SNV
Germline

Chr17:43093337

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA001465

rs_80357426

11 SubmittersRCV000111786 RCV000482657 RCV000496814 RCV001014735

NM_007294.4(BRCA1):c.2197G>T (p.Glu733Ter)

SNV
Germline

Chr17:43093334

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA001468

rs_397508949

12 SubmittersRCV000077511 RCV000479672 RCV000509808 RCV001852989

NM_007294.4(BRCA1):c.220C>T (p.Gln74Ter)

SNV
Germline

Chr17:43104949

Pathogenic

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary cancer-predisposing syndrome
Ovarian cancer

Reviewed By Expert Panel

CA001476

rs_80357234

17 SubmittersRCV000047758 RCV000112044 RCV000414657 RCV000572393 RCV000677814

NM_007294.4(BRCA1):c.2215A>T (p.Lys739Ter)

SNV
Germline

Chr17:43093316

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA001484

rs_56329598

10 SubmittersRCV000111795 RCV000496377 RCV000771559

NM_007294.4(BRCA1):c.2218G>C (p.Val740Leu)

SNV
Germline

Chr17:43093313

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA001488

rs_80357415

9 SubmittersRCV000047765 RCV000111798 RCV000220800 RCV001811336

NM_007294.4(BRCA1):c.2222C>G (p.Ser741Cys)

SNV
Germline

Chr17:43093309

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Hereditary breast ovarian cancer syndrome
BRCA1-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA001490

rs_80357051

11 SubmittersRCV000111801 RCV000214807 RCV000486164 RCV000767205 RCV001299384 RCV004803969

NM_007294.4(BRCA1):c.2222C>T (p.Ser741Phe)

SNV
Germline

Chr17:43093309

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA001491

rs_80357051

9 SubmittersRCV000047767 RCV000111802 RCV000216743 RCV001719801

NM_007294.4(BRCA1):c.2245G>T (p.Asp749Tyr)

SNV
Germline

Chr17:43093286

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA001504

rs_80357114

6 SubmittersRCV000047772 RCV000111807 RCV000510045 RCV001284287

NM_007294.4(BRCA1):c.2263G>T (p.Glu755Ter)

SNV
Germline

Chr17:43093268

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast and/or ovarian cancer
Malignant tumor of breast
Carcinoma of pancreas
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA001514

rs_41286296

15 SubmittersRCV000111810 RCV000496395 RCV001092621 RCV001270970 RCV001356914 RCV001391198 RCV004601099

NM_007294.4(BRCA1):c.2268G>C (p.Arg756Ser)

SNV
Germline

Chr17:43093263

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Pancreatic cancer, susceptibility to, 4
Breast-ovarian cancer, familial, susceptibility to, 1
Fanconi anemia, complementation group S

Criteria Provided
Conflicting Classifications

CA001515

rs_80356884

11 SubmittersRCV000047778 RCV000111812 RCV000129867 RCV000254635 RCV001281712 RCV005016334

NM_007294.4(BRCA1):c.2275C>T (p.Gln759Ter)

SNV
Germline

Chr17:43093256

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA001519

rs_80356999

6 SubmittersRCV000111814 RCV001380382 RCV002444510

NM_007294.4(BRCA1):c.2282A>C (p.Glu761Ala)

SNV
Germline

Chr17:43093249

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 1
Fanconi anemia, complementation group S

Criteria Provided
Conflicting Classifications

CA001522

rs_80356869

8 SubmittersRCV000111815 RCV000584283 RCV001368299 RCV001762162 RCV005357385

NM_007294.4(BRCA1):c.2293G>T (p.Glu765Ter)

SNV
Germline

Chr17:43093238

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA001525

rs_80357449

10 SubmittersRCV000111818 RCV000162853 RCV000505829 RCV001388815

NM_007294.4(BRCA1):c.2309C>A (p.Ser770Ter)

SNV
Germline

Chr17:43093222

Pathogenic

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Pancreatic cancer, susceptibility to, 4
Fanconi anemia, complementation group S
Breast-ovarian cancer, familial, susceptibility to, 1
Familial cancer of breast

Reviewed By Expert Panel

CA001536

rs_80357063

16 SubmittersRCV000047791 RCV000077513 RCV000222520 RCV000445000 RCV002496716

NM_007294.4(BRCA1):c.230C>G (p.Thr77Arg)

SNV
Germline

Chr17:43104939

Conflicting classifications of pathogenicity

Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA001538

rs_80357209

7 SubmittersRCV000576908 RCV000662810 RCV001852991 RCV003362681

NM_007294.4(BRCA1):c.230C>T (p.Thr77Met)

SNV
Germline

Chr17:43104939

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Breast and/or ovarian cancer
not specified

Criteria Provided
Conflicting Classifications

CA001539

rs_80357209

16 SubmittersRCV000077514 RCV000216581 RCV000587004 RCV001326176 RCV003149702 RCV003230384

NM_007294.4(BRCA1):c.2338C>T (p.Gln780Ter)

SNV
Germline

Chr17:43093193

Pathogenic

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Ovarian neoplasm
Malignant tumor of breast
Breast and/or ovarian cancer

Reviewed By Expert Panel

CA001563

rs_80356945

32 SubmittersRCV000047805 RCV000077515 RCV000162854 RCV000414114 RCV000785402 RCV001353849 RCV003149703

NM_007294.4(BRCA1):c.2350T>G (p.Ser784Ala)

SNV
Germline

Chr17:43093181

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
not specified
Hereditary cancer-predisposing syndrome
BRCA1-related cancer predisposition
Condition: not provided

Criteria Provided
Conflicting Classifications

CA001567

rs_80357399

7 SubmittersRCV000111830 RCV001341133 RCV001553706 RCV002444511 RCV004803970 RCV005867836

NM_007294.4(BRCA1):c.2354T>A (p.Leu785Ter)

SNV
Germline

Chr17:43093177

Pathogenic

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1

Reviewed By Expert Panel

CA001571

rs_397508961

3 SubmittersRCV000047811 RCV000257066

NM_007294.4(BRCA1):c.2362G>A (p.Val788Ile)

SNV
Germline

Chr17:43093169

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Familial cancer of breast
BRCA1-related cancer predisposition
Condition: not provided

Criteria Provided
Conflicting Classifications

CA001579

rs_80357060

8 SubmittersRCV000111835 RCV000131669 RCV001314139 RCV003607221 RCV004803971 RCV004998165

NM_007294.4(BRCA1):c.2387C>T (p.Thr796Ile)

SNV
Germline

Chr17:43093144

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Breast neoplasm
Condition: not provided
not specified
BRCA1-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA001583

rs_80357364

10 SubmittersRCV000047818 RCV000111839 RCV000167276 RCV000240714 RCV000588791 RCV001778691 RCV004803972

NM_007294.4(BRCA1):c.2397T>A (p.Asn799Lys)

SNV
Germline

Chr17:43093134

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Breast and/or ovarian cancer

Criteria Provided
Conflicting Classifications

CA001594

rs_80357203

10 SubmittersRCV000047824 RCV000111842 RCV000164929 RCV000587218 RCV000768615

NM_007294.4(BRCA1):c.2403T>A (p.Cys801Ter)

SNV
Germline

Chr17:43093128

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA001597

rs_80357381

7 SubmittersRCV000083183 RCV000496719 RCV005520232

NM_007294.4(BRCA1):c.2410C>T (p.Gln804Ter)

SNV
Germline

Chr17:43093121

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA001603

rs_80356982

5 SubmittersRCV000077516 RCV000496431

NM_007294.4(BRCA1):c.2416G>A (p.Ala806Thr)

SNV
Germline

Chr17:43093115

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
not specified
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA001610

rs_80357144

11 SubmittersRCV000047832 RCV000077517 RCV000212167 RCV000218307 RCV006258973

NM_007294.4(BRCA1):c.2419G>T (p.Ala807Ser)

SNV
Germline

Chr17:43093112

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome
Fanconi anemia, complementation group S

Criteria Provided
Conflicting Classifications

CA001612

rs_80357240

6 SubmittersRCV000111854 RCV001015485 RCV001194351 RCV001363802 RCV005357388

NM_007294.4(BRCA1):c.241C>T (p.Gln81Ter)

SNV
Germline

Chr17:43104928

Pathogenic

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Breast and/or ovarian cancer
Pancreatic cancer, susceptibility to, 4
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 1
Fanconi anemia, complementation group S
Hereditary cancer-predisposing syndrome
Malignant tumor of breast
Condition: not provided

Reviewed By Expert Panel

CA001613

rs_80357350

13 SubmittersRCV000047834 RCV000112105 RCV000735472 RCV000763008 RCV001015488 RCV001353463 RCV003321493

NM_007294.4(BRCA1):c.2420C>A (p.Ala807Glu)

SNV
Germline/somatic

Chr17:43093111

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA001614

rs_273899683

4 SubmittersRCV000111855 RCV001015490 RCV001346971

NM_007294.4(BRCA1):c.2437G>T (p.Gly813Ter)

SNV
Germline

Chr17:43093094

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA001626

rs_80357186

6 SubmittersRCV000111862 RCV000496570 RCV002453359

NM_007294.4(BRCA1):c.2473G>T (p.Asp825Tyr)

SNV
Germline

Chr17:43093058

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA001643

rs_80357328

12 SubmittersRCV000083184 RCV000132467 RCV000435802 RCV000586521 RCV001081263

NM_007294.4(BRCA1):c.2481A>C (p.Glu827Asp)

SNV
Germline

Chr17:43093050

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
not specified

Criteria Provided
Conflicting Classifications

CA001652

rs_397508970

9 SubmittersRCV000077520 RCV000216311 RCV000590050 RCV001345360 RCV001818226

NM_007294.4(BRCA1):c.2482G>A (p.Gly828Ser)

SNV
Germline

Chr17:43093049

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA001653

rs_80357185

4 SubmittersRCV000111877 RCV000131949 RCV001324477

NM_007294.4(BRCA1):c.2527A>G (p.Thr843Ala)

SNV
Germline

Chr17:43093004

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
not specified
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast and/or ovarian cancer

Criteria Provided
Conflicting Classifications

CA001675

rs_80357435

9 SubmittersRCV000111884 RCV000480963 RCV001194380 RCV001324819 RCV002453360 RCV003492380

NM_007294.4(BRCA1):c.2534T>C (p.Ile845Thr)

SNV
Germline

Chr17:43092997

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA001676

rs_397508976

5 SubmittersRCV000410162 RCV000561022 RCV001360641

NM_007294.4(BRCA1):c.2541G>A (p.Met847Ile)

SNV
Germline

Chr17:43092990

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA001678

rs_80357195

5 SubmittersRCV000111886 RCV000590420 RCV001320587 RCV003157351

NM_007294.4(BRCA1):c.2545G>T (p.Glu849Ter)

SNV
Germline

Chr17:43092986

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA001680

rs_80356951

6 SubmittersRCV000111887 RCV000131874 RCV001382662

NM_007294.4(BRCA1):c.2561C>T (p.Ala854Val)

SNV
Germline

Chr17:43092970

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA001688

rs_80357315

5 SubmittersRCV000111889 RCV001350271 RCV001015939

NM_007294.4(BRCA1):c.2568T>G (p.Tyr856Ter)

SNV
Germline

Chr17:43092963

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA001694

rs_80356832

8 SubmittersRCV000111893 RCV001181838 RCV002222155

NM_007294.4(BRCA1):c.2572C>T (p.Gln858Ter)

SNV
Germline

Chr17:43092959

Pathogenic

Breast neoplasm
Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA001697

rs_397508983

7 SubmittersRCV000240752 RCV000257400 RCV001270000 RCV002515734

NM_007294.4(BRCA1):c.2582T>G (p.Phe861Cys)

SNV
Germline

Chr17:43092949

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA001698

rs_80357098

6 SubmittersRCV000111895 RCV000566444 RCV005089435

NM_007294.4(BRCA1):c.2590T>G (p.Ser864Ala)

SNV
Germline

Chr17:43092941

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA001702

rs_80357285

4 SubmittersRCV000047888 RCV000111897 RCV000164741

NM_007294.4(BRCA1):c.2591C>G (p.Ser864Ter)

SNV
Germline

Chr17:43092940

Pathogenic

Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Condition: not provided
Fanconi anemia, complementation group S
Pancreatic cancer, susceptibility to, 4
Breast-ovarian cancer, familial, susceptibility to, 1

Reviewed By Expert Panel

CA001703

rs_80357003

7 SubmittersRCV000132313 RCV000241398 RCV000496756 RCV004700334 RCV005016335

NM_007294.4(BRCA1):c.2591C>T (p.Ser864Leu)

SNV
Germline

Chr17:43092940

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
BRCA1-related cancer predisposition
Condition: not provided

Criteria Provided
Conflicting Classifications

CA001704

rs_80357003

8 SubmittersRCV000111898 RCV000132326 RCV001348685 RCV004803974 RCV006258974

NM_007294.4(BRCA1):c.259T>G (p.Leu87Val)

SNV
Germline

Chr17:43104910

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA001710

rs_80357091

8 SubmittersRCV000112151 RCV000203628 RCV000223406 RCV000590264

NM_007294.4(BRCA1):c.2603C>A (p.Ser868Ter)

SNV
Germline

Chr17:43092928

Pathogenic

Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA001713

rs_80356925

3 SubmittersRCV000577690 RCV000661097 RCV003529960

NM_007294.4(BRCA1):c.2612C>A (p.Pro871Gln)

SNV
Germline

Chr17:43092919

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA001718

rs_799917

6 SubmittersRCV000111902 RCV001301252 RCV002433538 RCV003441733

NM_007294.4(BRCA1):c.2632G>A (p.Ala878Thr)

SNV
Germline

Chr17:43092899

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA001726

rs_80357230

4 SubmittersRCV000111906 RCV001343273 RCV003157352

NM_007294.4(BRCA1):c.2641G>T (p.Glu881Ter)

SNV
Germline

Chr17:43092890

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA001732

rs_397508988

13 SubmittersRCV000225552 RCV000478682 RCV000496821 RCV000563817

NM_007294.4(BRCA1):c.2650A>G (p.Thr884Ala)

SNV
Germline

Chr17:43092881

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA001736

rs_80357120

4 SubmittersRCV000111908 RCV002453361 RCV002514238

NM_007294.4(BRCA1):c.2662C>T (p.His888Tyr)

SNV
Germline

Chr17:43092869

Conflicting classifications of pathogenicity

not specified
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Breast and/or ovarian cancer
Hereditary breast ovarian cancer syndrome
Pancreatic cancer, susceptibility to, 4
Fanconi anemia, complementation group S
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA001742

rs_80357480

20 SubmittersRCV000047914 RCV000111910 RCV000129905 RCV000589310 RCV000768614 RCV001081135 RCV005016336

NM_007294.4(BRCA1):c.2668G>A (p.Gly890Arg)

SNV
Germline

Chr17:43092863

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Malignant tumor of breast
Breast and/or ovarian cancer
Inherited ovarian cancer (without breast cancer)

Criteria Provided
Conflicting Classifications

CA001745

rs_80357200

15 SubmittersRCV000047916 RCV000111911 RCV000164235 RCV000407250 RCV000758803 RCV001353659 RCV003492382 RCV004691737

NM_007294.4(BRCA1):c.266T>C (p.Ile89Thr)

SNV
Germline

Chr17:43104903

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA001747

rs_80357097

6 SubmittersRCV000112168 RCV000220067 RCV001417915 RCV002250533

NM_007294.4(BRCA1):c.2677A>C (p.Lys893Gln)

SNV
Germline

Chr17:43092854

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA001753

rs_80357170

5 SubmittersRCV000111915 RCV001284392 RCV001315066 RCV003157355

NM_007294.4(BRCA1):c.267C>G (p.Ile89Met)

SNV
Germline

Chr17:43104902

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
not specified

Criteria Provided
Conflicting Classifications

CA001760

rs_80356963

7 SubmittersRCV000047926 RCV000112171 RCV000223325 RCV003493428

NM_007294.4(BRCA1):c.2683C>T (p.Gln895Ter)

SNV
Germline

Chr17:43092848

Pathogenic

Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA001764

rs_397508997

4 SubmittersRCV000131537 RCV000240966 RCV001386304

NM_007294.4(BRCA1):c.2692A>G (p.Lys898Glu)

SNV
Germline

Chr17:43092839

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA001775

rs_80357420

5 SubmittersRCV000111920 RCV001342449 RCV002426606

NM_007294.4(BRCA1):c.2713C>T (p.Gln905Ter)

SNV
Germline

Chr17:43092818

Pathogenic

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
not specified
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA001787

rs_397509002

9 SubmittersRCV000047941 RCV000225470 RCV000484764 RCV000506839 RCV004948166

NM_007294.4(BRCA1):c.2722G>T (p.Glu908Ter)

SNV
Germline

Chr17:43092809

Pathogenic

Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Breast neoplasm
Pancreatic cancer, susceptibility to, 4
Fanconi anemia, complementation group S
Breast-ovarian cancer, familial, susceptibility to, 1
Familial cancer of breast
Breast and/or ovarian cancer
Fanconi anemia, complementation group S

Reviewed By Expert Panel

CA001792

rs_80356978

33 SubmittersRCV000047943 RCV000074576 RCV000077527 RCV000131878 RCV000148387 RCV000763005 RCV000735484 RCV005229873

NM_007294.4(BRCA1):c.2728C>T (p.Gln910Ter)

SNV
Germline

Chr17:43092803

Pathogenic

Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA001798

rs_397509004

3 SubmittersRCV000577003 RCV000661276 RCV001386302

NM_007294.4(BRCA1):c.2739T>A (p.Asn913Lys)

SNV
Germline

Chr17:43092792

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA001804

rs_273899688

4 SubmittersRCV000047952 RCV000111928 RCV000217541

NM_007294.4(BRCA1):c.2740G>T (p.Glu914Ter)

SNV
Germline

Chr17:43092791

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Reviewed By Expert Panel

CA001806

rs_80357419

6 SubmittersRCV000111929 RCV000566593 RCV001852995 RCV002269261

NM_007294.4(BRCA1):c.2752A>C (p.Lys918Gln)

SNV
Germline

Chr17:43092779

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA001813

rs_397509010

3 SubmittersRCV000215897 RCV002514239

NM_007294.4(BRCA1):c.2759T>C (p.Val920Ala)

SNV
Germline

Chr17:43092772

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA001816

rs_80357008

4 SubmittersRCV000111932 RCV001347234 RCV003157356

NM_007294.4(BRCA1):c.2761C>T (p.Gln921Ter)

SNV
Germline

Chr17:43092770

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Reviewed By Expert Panel

CA001817

rs_80357377

10 SubmittersRCV000111933 RCV000221485 RCV000496230 RCV003148644

NM_007294.4(BRCA1):c.2765C>G (p.Thr922Arg)

SNV
Germline

Chr17:43092766

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Familial cancer of breast
BRCA1-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA001821

rs_80357460

8 SubmittersRCV000111936 RCV000130481 RCV001349760 RCV003607222 RCV004803976

NM_007294.4(BRCA1):c.2782G>A (p.Gly928Ser)

SNV
Germline

Chr17:43092749

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA001829

rs_80356995

6 SubmittersRCV000111937 RCV001016594 RCV001344844

NM_007294.4(BRCA1):c.2789C>T (p.Pro930Leu)

SNV
Germline

Chr17:43092742

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA001831

rs_80357256

6 SubmittersRCV000111938 RCV000478240 RCV001320702 RCV002433540

NM_007294.4(BRCA1):c.2800C>T (p.Gln934Ter)

SNV
Germline/somatic

Chr17:43092731

Pathogenic

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary cancer-predisposing syndrome
Malignant tumor of breast
Ovarian carcinoma
Malignant tumor of urinary bladder

Reviewed By Expert Panel

CA001836

rs_80357223

20 SubmittersRCV000047973 RCV000077528 RCV000236201 RCV000579514 RCV001357748 RCV001650886 RCV003332108

NM_007294.4(BRCA1):c.2818G>T (p.Asp940Tyr)

SNV
Germline

Chr17:43092713

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA001846

rs_80357077

5 SubmittersRCV000111945 RCV000568463 RCV001852997

NM_007294.4(BRCA1):c.2832T>A (p.Cys944Ter)

SNV
Germline

Chr17:43092699

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA001848

rs_80357458

5 SubmittersRCV000111946 RCV001016723 RCV001386301

NM_007294.4(BRCA1):c.2864C>A (p.Ser955Ter)

SNV
Germline

Chr17:43092667

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA001866

rs_80357295

16 SubmittersRCV000077530 RCV000131912 RCV000255164 RCV000496521

NM_007294.4(BRCA1):c.2869C>T (p.Gln957Ter)

SNV
Germline

Chr17:43092662

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Reviewed By Expert Panel

CA001870

rs_80356973

8 SubmittersRCV000111953 RCV000496830 RCV001016733 RCV004700335

NM_007294.4(BRCA1):c.286G>A (p.Asp96Asn)

SNV
Germline

Chr17:43104883

Likely pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
BRCA1-related cancer predisposition

Reviewed By Expert Panel

CA001871

rs_80357110

7 SubmittersRCV000112214 RCV000562295 RCV002514240 RCV006276059

NM_007294.4(BRCA1):c.2872T>A (p.Phe958Ile)

SNV
Germline

Chr17:43092659

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA001874

rs_80356878

6 SubmittersRCV000111955 RCV001349170 RCV002433541 RCV003476950

NM_007294.4(BRCA1):c.2917C>G (p.Leu973Val)

SNV
Germline

Chr17:43092614

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA001903

rs_80357080

7 SubmittersRCV000083191 RCV000509848 RCV001302190

NM_007294.4(BRCA1):c.2921T>C (p.Leu974Ser)

SNV
Germline

Chr17:43092610

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA001909

rs_80356872

4 SubmittersRCV000111966 RCV000572544 RCV006461319

NM_007294.4(BRCA1):c.2923C>T (p.Gln975Ter)

SNV
Germline

Chr17:43092608

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA001911

rs_80357497

8 SubmittersRCV000111967 RCV000510090 RCV000657620 RCV001382049

NM_007294.4(BRCA1):c.2936G>A (p.Arg979His)

SNV
Germline

Chr17:43092595

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA001918

rs_80356985

9 SubmittersRCV000048020 RCV000111970 RCV000216248 RCV000590371 RCV002307384

NM_007294.4(BRCA1):c.2963C>A (p.Ser988Ter)

SNV
Germline

Chr17:43092568

Pathogenic

Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA001927

rs_397507206

5 SubmittersRCV000166800 RCV000225640 RCV000487157 RCV002514241

NM_007294.4(BRCA1):c.2998G>A (p.Glu1000Lys)

SNV
Germline

Chr17:43092533

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA001951

rs_80357124

10 SubmittersRCV000048034 RCV000111977 RCV000131313 RCV003226180 RCV003159094 RCV003607223

NM_007294.4(BRCA1):c.2T>C (p.Met1Thr)

SNV
Germline

Chr17:43124095

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA001954

rs_80357111

6 SubmittersRCV000111545 RCV001017950 RCV001387017

NM_007294.4(BRCA1):c.2T>G (p.Met1Arg)

SNV
Germline

Chr17:43124095

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA001955

rs_80357111

5 SubmittersRCV000111546 RCV000776485 RCV001255546

NM_007294.4(BRCA1):c.302-1G>A

SNV
Germline

Chr17:43104262

Pathogenic/Likely pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Malignant tumor of breast
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA001974

rs_80358116

12 SubmittersRCV000112246 RCV000845274 RCV001090054 RCV001529180 RCV001524168

NM_007294.4(BRCA1):c.302-1G>C

SNV
Germline

Chr17:43104262

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA001975

rs_80358116

6 SubmittersRCV000191156 RCV001176610 RCV001192443

NM_007294.4(BRCA1):c.3020C>G (p.Ser1007Ter)

SNV
Germline

Chr17:43092511

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA001973

rs_80357168

5 SubmittersRCV000111983 RCV002433544 RCV005089437

NM_007294.4(BRCA1):c.3026C>A (p.Ser1009Ter)

SNV
Germline/somatic

Chr17:43092505

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA001989

rs_273899696

5 SubmittersRCV000111985 RCV002433545 RCV003137588 RCV006461320

NM_007294.4(BRCA1):c.303T>G (p.Tyr101Ter)

SNV
Germline

Chr17:43104260

Pathogenic

Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA001996

rs_80356936

11 SubmittersRCV000048054 RCV000074578 RCV000112260 RCV000162861

NM_007294.4(BRCA1):c.3040A>G (p.Met1014Val)

SNV
Germline

Chr17:43092491

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA001997

rs_80356933

3 SubmittersRCV000111987 RCV001360640 RCV003157360

NM_007294.4(BRCA1):c.3040A>T (p.Met1014Leu)

SNV
Germline

Chr17:43092491

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA001998

rs_80356933

8 SubmittersRCV000111988 RCV000482931 RCV000564207 RCV001351127

NM_007294.4(BRCA1):c.3041T>A (p.Met1014Lys)

SNV
Germline

Chr17:43092490

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
BRCA1-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA001999

rs_80357020

11 SubmittersRCV000048057 RCV000111989 RCV000129436 RCV000758805 RCV004767045 RCV004803978

NM_007294.4(BRCA1):c.3046A>G (p.Asn1016Asp)

SNV
Germline

Chr17:43092485

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA002002

rs_80357154

5 SubmittersRCV000111991 RCV000131933 RCV001300890

NM_007294.4(BRCA1):c.3049G>T (p.Glu1017Ter)

SNV
Germline

Chr17:43092482

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast carcinoma

Reviewed By Expert Panel

CA002004

rs_80357004

9 SubmittersRCV000111993 RCV000580724 RCV001388997 RCV001580149

NM_007294.4(BRCA1):c.3074C>T (p.Thr1025Ile)

SNV
Germline

Chr17:43092457

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA002016

rs_397509034

5 SubmittersRCV000576961 RCV002319434 RCV002514242 RCV006258977

NM_007294.4(BRCA1):c.3080G>A (p.Ser1027Asn)

SNV
Germline

Chr17:43092451

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified

Criteria Provided
Conflicting Classifications

CA002018

rs_80357386

7 SubmittersRCV000111995 RCV000481809 RCV001363320 RCV002319435 RCV001800360

NM_007294.4(BRCA1):c.3122C>G (p.Ser1041Ter)

SNV
Germline

Chr17:43092409

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Gastric cancer
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA002040

rs_397509035

5 SubmittersRCV000256646 RCV003162405 RCV002513657

NM_007294.4(BRCA1):c.3143G>A (p.Gly1048Asp)

SNV
Germline

Chr17:43092388

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
not specified

Criteria Provided
Conflicting Classifications

CA002048

rs_80356899

13 SubmittersRCV000112008 RCV000129517 RCV000588811 RCV000709476 RCV005406783

NM_007294.4(BRCA1):c.3169A>G (p.Ser1057Gly)

SNV
Germline

Chr17:43092362

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
not specified
BRCA1-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA002065

rs_80357479

9 SubmittersRCV000077539 RCV000509657 RCV000587239 RCV001325551 RCV001328036 RCV004803980

NM_007294.4(BRCA1):c.3178G>T (p.Glu1060Ter)

SNV
Germline

Chr17:43092353

Pathogenic

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary cancer-predisposing syndrome
Malignant tumor of breast

Reviewed By Expert Panel

CA002070

rs_80357424

19 SubmittersRCV000048092 RCV000077540 RCV000212171 RCV000448786 RCV001358497

NM_007294.4(BRCA1):c.3179A>C (p.Glu1060Ala)

SNV
Germline

Chr17:43092352

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Malignant tumor of breast
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA002071

rs_80357184

8 SubmittersRCV000112012 RCV000167200 RCV000500983 RCV001368543 RCV002292464

NM_007294.4(BRCA1):c.3190A>T (p.Ser1064Cys)

SNV
Germline

Chr17:43092341

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA002077

rs_273899702

6 SubmittersRCV000112015 RCV000166720 RCV001324849 RCV003318549

NM_007294.4(BRCA1):c.3220A>G (p.Arg1074Gly)

SNV
Germline

Chr17:43092311

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA002086

rs_80357263

10 SubmittersRCV000112031 RCV000221174 RCV000485156 RCV000767060 RCV002054874

NM_007294.4(BRCA1):c.3239T>A (p.Leu1080Ter)

SNV
Germline

Chr17:43092292

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Condition: not provided

Reviewed By Expert Panel

CA002097

rs_80357145

6 SubmittersRCV000112034 RCV000496335 RCV003476953

NM_007294.4(BRCA1):c.3257T>A (p.Leu1086Ter)

SNV
Germline

Chr17:43092274

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Reviewed By Expert Panel

CA002106

rs_80357006

6 SubmittersRCV000112037 RCV000563517 RCV001381501 RCV004700336

NM_007294.4(BRCA1):c.3257T>G (p.Leu1086Ter)

SNV
Germline

Chr17:43092274

Pathogenic

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Breast neoplasm
Condition: not provided

Reviewed By Expert Panel

CA002108

rs_80357006

21 SubmittersRCV000048114 RCV000083194 RCV000131910 RCV000414138 RCV000657619

NM_007294.4(BRCA1):c.3260G>C (p.Gly1087Ala)

SNV
Germline

Chr17:43092271

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA002109

rs_80357172

9 SubmittersRCV000048116 RCV000112040 RCV000130262 RCV000212172 RCV005237480

NM_007294.4(BRCA1):c.3263T>A (p.Val1088Asp)

SNV
Germline

Chr17:43092268

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA002111

rs_80356901

8 SubmittersRCV000112041 RCV001363803 RCV002444513

NM_007294.4(BRCA1):c.3268C>T (p.Gln1090Ter)

SNV
Germline

Chr17:43092263

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Ovarian neoplasm
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA002112

rs_80357402

8 SubmittersRCV000112042 RCV000785407 RCV001019530 RCV000779899

NM_007294.4(BRCA1):c.3286C>T (p.Gln1096Ter)

SNV
Germline/somatic

Chr17:43092245

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Malignant tumor of breast
Malignant tumor of urinary bladder

Reviewed By Expert Panel

CA002118

rs_80357485

10 SubmittersRCV000112045 RCV000486625 RCV000510107 RCV001386667 RCV001356246 RCV003332109

NM_007294.4(BRCA1):c.3287A>G (p.Gln1096Arg)

SNV
Germline

Chr17:43092244

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA002120

rs_273899704

7 SubmittersRCV000112047 RCV000166428 RCV001347452 RCV004589540

NM_007294.4(BRCA1):c.3305A>G (p.Asn1102Ser)

SNV
Germline

Chr17:43092226

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome
Condition: not provided
Fanconi anemia, complementation group S

Criteria Provided
Conflicting Classifications

CA002133

rs_80356900

10 SubmittersRCV000112054 RCV000214206 RCV000506903 RCV001350762 RCV001582548 RCV005357391

NM_007294.4(BRCA1):c.3308G>T (p.Cys1103Phe)

SNV
Germline

Chr17:43092223

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA002134

rs_80357135

6 SubmittersRCV000048137 RCV000112055 RCV000570505 RCV000758810

NM_007294.4(BRCA1):c.3309T>A (p.Cys1103Ter)

SNV
Germline

Chr17:43092222

Pathogenic

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1

Reviewed By Expert Panel

CA002136

rs_80357317

4 SubmittersRCV000496685 RCV000112056

NM_007294.4(BRCA1):c.3313C>A (p.His1105Asn)

SNV
Germline

Chr17:43092218

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA002137

rs_80357288

5 SubmittersRCV000112057 RCV001019908 RCV001326900

NM_007294.4(BRCA1):c.3319G>T (p.Glu1107Ter)

SNV
Germline

Chr17:43092212

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Reviewed By Expert Panel

CA002139

rs_80357106

13 SubmittersRCV000112058 RCV000496209 RCV000570252 RCV002267822

NM_007294.4(BRCA1):c.332A>C (p.Glu111Ala)

SNV
Germline

Chr17:43104231

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA002154

rs_80357312

10 SubmittersRCV000112332 RCV000486172 RCV001020000 RCV001315292 RCV002247442 RCV002463633

NM_007294.4(BRCA1):c.3331C>T (p.Gln1111Ter)

SNV
Germline

Chr17:43092200

Pathogenic

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA002158

rs_80357089

7 SubmittersRCV000048150 RCV000112070 RCV001545434 RCV004948167

NM_007294.4(BRCA1):c.3340G>T (p.Glu1114Ter)

SNV
Germline

Chr17:43092191

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Condition: not provided

Reviewed By Expert Panel

CA002163

rs_80357278

7 SubmittersRCV000112073 RCV000496843 RCV005055550

NM_007294.4(BRCA1):c.3346G>C (p.Val1116Leu)

SNV
Germline

Chr17:43092185

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome
Condition: not provided
BRCA1-related disorder

Criteria Provided
Conflicting Classifications

CA002167

rs_55909400

12 SubmittersRCV000112076 RCV000218827 RCV000779859 RCV001319129 RCV001561298 RCV004554659

NM_007294.4(BRCA1):c.3355A>T (p.Thr1119Ser)

SNV
Germline

Chr17:43092176

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA002176

rs_80356949

7 SubmittersRCV000048162 RCV000112078 RCV000129260 RCV000235634

NM_007294.4(BRCA1):c.3367G>T (p.Asp1123Tyr)

SNV
Germline

Chr17:43092164

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA002185

rs_80356867

10 SubmittersRCV000048169 RCV000077545 RCV000132476 RCV000236480

NM_007294.4(BRCA1):c.3377C>T (p.Pro1126Leu)

SNV
Germline

Chr17:43092154

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
not specified

Criteria Provided
Conflicting Classifications

CA002188

rs_80356887

9 SubmittersRCV000112083 RCV000166384 RCV000485450 RCV001350122 RCV006273085

NM_007294.4(BRCA1):c.3398T>G (p.Leu1133Ter)

SNV
Germline

Chr17:43092133

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA002197

rs_80356971

4 SubmittersRCV000162045 RCV001386166

NM_007294.4(BRCA1):c.3403C>T (p.Gln1135Ter)

SNV
Germline

Chr17:43092128

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA002200

rs_80357136

11 SubmittersRCV000077547 RCV000236027 RCV000496327 RCV000574138

NM_007294.4(BRCA1):c.3407C>G (p.Pro1136Arg)

SNV
Germline

Chr17:43092124

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA002202

rs_80357329

8 SubmittersRCV000112088 RCV000165960 RCV000508280 RCV001522503 RCV005229875

NM_007294.4(BRCA1):c.3410T>C (p.Met1137Thr)

SNV
Germline

Chr17:43092121

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
BRCA1-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA002204

rs_80357297

11 SubmittersRCV000048182 RCV000112089 RCV000212173 RCV000509877 RCV000759520 RCV004803982

NM_007294.4(BRCA1):c.3424G>C (p.Ala1142Pro)

SNV
Germline

Chr17:43092107

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Pancreatic cancer, susceptibility to, 4
Fanconi anemia, complementation group S
Breast-ovarian cancer, familial, susceptibility to, 1
Familial cancer of breast
Hereditary breast ovarian cancer syndrome
not specified

Criteria Provided
Conflicting Classifications

CA002215

rs_80357101

13 SubmittersRCV000077548 RCV000221866 RCV000590692 RCV000765364 RCV001296484 RCV006268099

NM_007294.4(BRCA1):c.3428C>T (p.Ser1143Phe)

SNV
Germline

Chr17:43092103

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA002218

rs_80357434

4 SubmittersRCV000112095 RCV001020275 RCV001365238

NM_007294.4(BRCA1):c.3437G>C (p.Cys1146Ser)

SNV
Germline

Chr17:43092094

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Breast and/or ovarian cancer
Malignant tumor of breast
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA002226

rs_80357247

6 SubmittersRCV000112098 RCV000770742 RCV001356231 RCV002453363 RCV003644880

NM_007294.4(BRCA1):c.3454G>A (p.Asp1152Asn)

SNV
Germline

Chr17:43092077

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Hereditary breast ovarian cancer syndrome
Familial cancer of breast
Malignant tumor of breast

Criteria Provided
Conflicting Classifications

CA002231

rs_80357175

21 SubmittersRCV000112100 RCV000129496 RCV000212174 RCV000589160 RCV001081256 RCV001196675 RCV001353524

NM_007294.4(BRCA1):c.3472G>T (p.Glu1158Ter)

SNV
Germline

Chr17:43092059

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Infiltrating duct carcinoma of breast
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA002237

rs_397509072

4 SubmittersRCV000241270 RCV000568440 RCV000677791 RCV001853000

NM_007294.4(BRCA1):c.3491G>T (p.Ser1164Ile)

SNV
Germline

Chr17:43092040

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA002249

rs_397509075

5 SubmittersRCV000577396 RCV000775157 RCV001296731

NM_007294.4(BRCA1):c.34C>T (p.Gln12Ter)

SNV
Germline

Chr17:43124063

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary breast ovarian cancer syndrome
Ovarian neoplasm
Hereditary cancer-predisposing syndrome
BRCA1-related cancer predisposition
Inherited breast cancer and ovarian cancer

Reviewed By Expert Panel

CA002251

rs_80357134

22 SubmittersRCV000111614 RCV000412855 RCV000496757 RCV000785196 RCV001020460 RCV004803984 RCV006252557

NM_007294.4(BRCA1):c.3508A>T (p.Ile1170Phe)

SNV
Germline/somatic

Chr17:43092023

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA002254

rs_273899708

3 SubmittersRCV000112106 RCV002513658 RCV003157367

NM_007294.4(BRCA1):c.3514G>T (p.Glu1172Ter)

SNV
Germline

Chr17:43092017

Pathogenic

Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA002257

rs_397509079

6 SubmittersRCV000236268 RCV000241016 RCV000775156 RCV001380020

NM_007294.4(BRCA1):c.3515A>G (p.Glu1172Gly)

SNV
Germline

Chr17:43092016

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Breast and/or ovarian cancer
Condition: not provided
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA002258

rs_80357206

7 SubmittersRCV000112108 RCV000130829 RCV000735475 RCV000985400 RCV001322957

NM_007294.4(BRCA1):c.3544C>T (p.Gln1182Ter)

SNV
Germline

Chr17:43091987

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Gastric cancer
Condition: not provided

Reviewed By Expert Panel

CA002266

rs_80357296

13 SubmittersRCV000112114 RCV000496733 RCV001020568 RCV003162409 RCV006258978

NM_007294.4(BRCA1):c.3560G>A (p.Ser1187Asn)

SNV
Germline

Chr17:43091971

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA002275

rs_80356975

8 SubmittersRCV000048233 RCV000112118 RCV000217356 RCV000586582 RCV005237481

NM_007294.4(BRCA1):c.3581C>T (p.Thr1194Ile)

SNV
Germline

Chr17:43091950

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA002281

rs_80357290

9 SubmittersRCV000112122 RCV000223601 RCV001367738 RCV002265584 RCV004998167

NM_007294.4(BRCA1):c.3587C>A (p.Thr1196Lys)

SNV
Germline

Chr17:43091944

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA002287

rs_80356944

6 SubmittersRCV000112126 RCV000218622 RCV001301253 RCV002460902 RCV006263647

NM_007294.4(BRCA1):c.3587C>T (p.Thr1196Ile)

SNV
Germline

Chr17:43091944

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
BRCA1-related disorder
Fanconi anemia, complementation group S
BRCA1-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA002289

rs_80356944

18 SubmittersRCV000048242 RCV000112127 RCV000509865 RCV000779887 RCV001092620 RCV004554662 RCV005357394 RCV004803985

NM_007294.4(BRCA1):c.3598C>T (p.Gln1200Ter)

SNV
Germline

Chr17:43091933

Pathogenic

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Pancreatic cancer, susceptibility to, 4
Fanconi anemia, complementation group S
Breast-ovarian cancer, familial, susceptibility to, 1
Familial cancer of breast
not specified
BRCA1-related disorder

Reviewed By Expert Panel

CA002296

rs_62625307

23 SubmittersRCV000048245 RCV000077552 RCV000131819 RCV000159977 RCV000763003 RCV001001611 RCV004554663

NM_007294.4(BRCA1):c.3607C>G (p.Arg1203Gly)

SNV
Germline/somatic

Chr17:43091924

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified

Criteria Provided
Conflicting Classifications

CA002304

rs_62625308

7 SubmittersRCV000112133 RCV001020709 RCV001338636 RCV006263648

NM_007294.4(BRCA1):c.3613G>A (p.Gly1205Arg)

SNV
Germline

Chr17:43091918

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA002308

rs_80357294

7 SubmittersRCV000112135 RCV000567875 RCV003644881 RCV006258979

NM_007294.4(BRCA1):c.3619A>T (p.Lys1207Ter)

SNV
Germline

Chr17:43091912

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Reviewed By Expert Panel

CA002314

rs_80357455

6 SubmittersRCV000112136 RCV001180644 RCV001383056 RCV003137589

NM_007294.4(BRCA1):c.3625T>G (p.Leu1209Val)

SNV
Germline

Chr17:43091906

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Pancreatic cancer, susceptibility to, 4
Breast-ovarian cancer, familial, susceptibility to, 1
Fanconi anemia, complementation group S
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 1
Fanconi anemia, complementation group S

Criteria Provided
Conflicting Classifications

CA002319

rs_273900711

13 SubmittersRCV000048260 RCV000077553 RCV000130630 RCV001251417 RCV003226902 RCV005016337 RCV005357397

NM_007294.4(BRCA1):c.3640G>T (p.Glu1214Ter)

SNV
Germline

Chr17:43091891

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Breast neoplasm
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Breast and/or ovarian cancer
Gastric cancer
Breast-ovarian cancer, familial, susceptibility to, 1
Pancreatic cancer, susceptibility to, 4
Fanconi anemia, complementation group S

Reviewed By Expert Panel

CA002328

rs_80356923

19 SubmittersRCV000112143 RCV000413182 RCV000562775 RCV000758815 RCV000779886 RCV001271013 RCV003162410 RCV004795987

NM_007294.4(BRCA1):c.3647T>G (p.Leu1216Ter)

SNV
Germline

Chr17:43091884

Pathogenic

Hereditary breast ovarian cancer syndrome
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 1

Reviewed By Expert Panel

CA002334

rs_397509091

3 SubmittersRCV001193194 RCV000577655 RCV000660997

NM_007294.4(BRCA1):c.3649T>C (p.Ser1217Pro)

SNV
Germline

Chr17:43091882

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Pancreatic cancer, susceptibility to, 4
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 1
Fanconi anemia, complementation group S
Condition: not provided
not specified
Malignant tumor of breast
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA002337

rs_273900712

14 SubmittersRCV000048271 RCV000112145 RCV000164401 RCV000765362 RCV000758816 RCV001194349 RCV001354959 RCV002250537

NM_007294.4(BRCA1):c.3655G>A (p.Glu1219Lys)

SNV
Germline

Chr17:43091876

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA002341

rs_80356921

9 SubmittersRCV000048274 RCV000112148 RCV000129819 RCV001569902 RCV005406785

NM_007294.4(BRCA1):c.3661G>T (p.Glu1221Ter)

SNV
Germline

Chr17:43091870

Pathogenic

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Breast neoplasm
Hereditary cancer-predisposing syndrome
Condition: not provided
Breast and/or ovarian cancer
Malignant tumor of breast
BRCA1-related disorder

Reviewed By Expert Panel

CA002345

rs_80357310

21 SubmittersRCV000048276 RCV000112149 RCV000148388 RCV000162864 RCV000258961 RCV000735476 RCV001353431 RCV004758627

NM_007294.4(BRCA1):c.3662A>C (p.Glu1221Ala)

SNV
Germline

Chr17:43091869

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Familial cancer of breast
BRCA1-related cancer predisposition
not specified

Criteria Provided
Conflicting Classifications

CA002346

rs_273900713

10 SubmittersRCV000112150 RCV000132409 RCV000767143 RCV001400108 RCV002250538 RCV004803988 RCV005406786

NM_007294.4(BRCA1):c.3664G>T (p.Glu1222Ter)

SNV
Germline

Chr17:43091867

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Reviewed By Expert Panel

CA002348

rs_80357356

15 SubmittersRCV000083196 RCV000131817 RCV000496663 RCV000505832

NM_007294.4(BRCA1):c.3711A>G (p.Ile1237Met)

SNV
Germline

Chr17:43091820

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Breast neoplasm
Malignant tumor of breast
Condition: not provided
not specified
Breast and/or ovarian cancer

Criteria Provided
Conflicting Classifications

CA002380

rs_80357388

17 SubmittersRCV000048295 RCV000112161 RCV000130925 RCV000413857 RCV000487176 RCV000588267 RCV002247443 RCV003149705

NM_007294.4(BRCA1):c.3713C>G (p.Pro1238Arg)

SNV
Germline

Chr17:43091818

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA002381

rs_28897688

10 SubmittersRCV000112162 RCV000562256 RCV001342448 RCV003125888 RCV004689436

NM_007294.4(BRCA1):c.3718C>T (p.Gln1240Ter)

SNV
Germline

Chr17:43091813

Pathogenic

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided

Reviewed By Expert Panel

CA002387

rs_80356903

20 SubmittersRCV000048301 RCV000077554 RCV000162866 RCV000519156

NM_007294.4(BRCA1):c.3722C>A (p.Ser1241Tyr)

SNV
Germline

Chr17:43091809

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA002389

rs_80357143

12 SubmittersRCV000048302 RCV000112164 RCV000130833 RCV001719802 RCV002228165

NM_007294.4(BRCA1):c.3746C>G (p.Thr1249Ser)

SNV
Germline

Chr17:43091785

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified

Criteria Provided
Conflicting Classifications

CA002399

rs_80357099

9 SubmittersRCV000112169 RCV000485104 RCV000562072 RCV001359002 RCV003330417

NM_007294.4(BRCA1):c.3753T>A (p.Cys1251Ter)

SNV
Germline

Chr17:43091778

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA002405

rs_397509098

4 SubmittersRCV000257357 RCV001386164

NM_007294.4(BRCA1):c.3760A>G (p.Lys1254Glu)

SNV
Germline

Chr17:43091771

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA002415

rs_80357362

8 SubmittersRCV000048320 RCV000112174 RCV000212176 RCV000216713

NM_007294.4(BRCA1):c.3772G>T (p.Glu1258Ter)

SNV
Germline

Chr17:43091759

Pathogenic

Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Reviewed By Expert Panel

CA002429

rs_397509105

5 SubmittersRCV000577819 RCV000661038 RCV001021099 RCV001853001 RCV003133128

NM_007294.4(BRCA1):c.3785C>A (p.Ser1262Ter)

SNV
Germline

Chr17:43091746

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Reviewed By Expert Panel

CA002440

rs_80357269

8 SubmittersRCV000112186 RCV001853002 RCV002362682 RCV002477171

NM_007294.4(BRCA1):c.3785C>T (p.Ser1262Leu)

SNV
Germline

Chr17:43091746

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Condition: not provided
not specified
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA002441

rs_80357269

6 SubmittersRCV000112187 RCV001315047 RCV001762163 RCV001818227 RCV003157375

NM_007294.4(BRCA1):c.3803A>G (p.Asn1268Ser)

SNV
Germline

Chr17:43091728

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA002449

rs_273900716

3 SubmittersRCV000112190 RCV003157376 RCV003644883

NM_007294.4(BRCA1):c.3817C>T (p.Gln1273Ter)

SNV
Germline

Chr17:43091714

Pathogenic

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Ovarian cancer

Reviewed By Expert Panel

CA002459

rs_80357208

15 SubmittersRCV000048342 RCV000112191 RCV000162867 RCV001353484 RCV002250540 RCV003483456

NM_007294.4(BRCA1):c.3835G>A (p.Ala1279Thr)

SNV
Germline

Chr17:43091696

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Hereditary breast ovarian cancer syndrome
Malignant tumor of breast

Criteria Provided
Conflicting Classifications

CA002469

rs_80357036

12 SubmittersRCV000083198 RCV000129501 RCV000435150 RCV000679693 RCV001082264 RCV001357948

NM_007294.4(BRCA1):c.3841C>T (p.Gln1281Ter)

SNV
Germline

Chr17:43091690

Pathogenic

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Malignant tumor of breast
Gastric cancer

Reviewed By Expert Panel

CA002475

rs_80356866

18 SubmittersRCV000048350 RCV000112195 RCV000162868 RCV000254889 RCV001354944 RCV003162411

NM_007294.4(BRCA1):c.3842A>C (p.Gln1281Pro)

SNV
Germline

Chr17:43091689

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified

Criteria Provided
Conflicting Classifications

CA002476

rs_80357483

9 SubmittersRCV000112198 RCV000484233 RCV000775153 RCV001369992 RCV003478991

NM_007294.4(BRCA1):c.3845A>T (p.Glu1282Val)

SNV
Germline

Chr17:43091686

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
not specified
BRCA1-related disorder

Criteria Provided
Conflicting Classifications

CA002478

rs_80357217

12 SubmittersRCV000112199 RCV000162771 RCV000212177 RCV001083561 RCV003150940 RCV004554670

NM_007294.4(BRCA1):c.3878C>A (p.Ala1293Asp)

SNV
Germline

Chr17:43091653

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA002500

rs_80357213

3 SubmittersRCV000048365 RCV000112207 RCV003157379

NM_007294.4(BRCA1):c.3878C>T (p.Ala1293Val)

SNV
Germline

Chr17:43091653

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
not specified

Criteria Provided
Conflicting Classifications

CA002501

rs_80357213

8 SubmittersRCV000077556 RCV000164922 RCV001355516 RCV001339366 RCV004799767

NM_007294.4(BRCA1):c.3893C>A (p.Ser1298Ter)

SNV
Germline

Chr17:43091638

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Pancreatic cancer, susceptibility to, 4
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 1
Fanconi anemia, complementation group S

Reviewed By Expert Panel

CA002504

rs_80357440

11 SubmittersRCV000077557 RCV000162869 RCV000212178 RCV000587766 RCV000763002

NM_007294.4(BRCA1):c.3895C>T (p.Gln1299Ter)

SNV
Germline

Chr17:43091636

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Reviewed By Expert Panel

CA002505

rs_80357038

11 SubmittersRCV000112209 RCV000131813 RCV000496298 RCV000508684

NM_007294.4(BRCA1):c.3903T>A (p.Ser1301Arg)

SNV
Germline/somatic

Chr17:43091628

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
not specified

Criteria Provided
Conflicting Classifications

CA002512

rs_273900719

7 SubmittersRCV000048374 RCV000077559 RCV000775152 RCV006451913

NM_007294.4(BRCA1):c.3904G>T (p.Glu1302Ter)

SNV
Germline

Chr17:43091627

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA002513

rs_80357461

15 SubmittersRCV000083199 RCV000484534 RCV000496224 RCV000569716

NM_007294.4(BRCA1):c.390C>A (p.Tyr130Ter)

SNV
Germline

Chr17:43104173

Pathogenic

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided

Reviewed By Expert Panel

CA002515

rs_80356888

11 SubmittersRCV000048376 RCV000112439 RCV000131881 RCV001353908

NM_007294.4(BRCA1):c.391A>T (p.Arg131Ter)

SNV
Germline

Chr17:43104172

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA002521

rs_80357207

10 SubmittersRCV000112458 RCV000509965 RCV000723922 RCV000781009

NM_007294.4(BRCA1):c.3929C>A (p.Thr1310Lys)

SNV
Germline

Chr17:43091602

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary cancer
Familial cancer of breast
BRCA1-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA002524

rs_80357257

15 SubmittersRCV000048383 RCV000083201 RCV000501619 RCV000569349 RCV000589731 RCV003492386 RCV003992170 RCV004803990

NM_007294.4(BRCA1):c.3940G>A (p.Asp1314Asn)

SNV
Germline

Chr17:43091591

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA002528

rs_80356954

5 SubmittersRCV000112213 RCV001315067 RCV003157380 RCV006258981

NM_007294.4(BRCA1):c.3944C>A (p.Pro1315His)

SNV
Germline

Chr17:43091587

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA002529

rs_80357500

3 SubmittersRCV000112215 RCV003644884 RCV003157381

NM_007294.4(BRCA1):c.3952A>G (p.Ile1318Val)

SNV
Germline

Chr17:43091579

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
BRCA1-related disorder

Criteria Provided
Conflicting Classifications

CA002531

rs_397509121

11 SubmittersRCV000480977 RCV000509595 RCV001339859 RCV004554671

NM_007294.4(BRCA1):c.3964A>T (p.Lys1322Ter)

SNV
Germline

Chr17:43091567

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA002537

rs_80357343

5 SubmittersRCV000112218 RCV000563165 RCV000590774

NM_007294.4(BRCA1):c.3965A>T (p.Lys1322Ile)

SNV
Germline

Chr17:43091566

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA002540

rs_80357042

5 SubmittersRCV000112219 RCV000563671 RCV000758819 RCV001321831

NM_007294.4(BRCA1):c.3967C>T (p.Gln1323Ter)

SNV
Germline

Chr17:43091564

Pathogenic

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided

Reviewed By Expert Panel

CA002542

rs_80357262

12 SubmittersRCV000048393 RCV000083202 RCV000570266 RCV000985411

NM_007294.4(BRCA1):c.3G>T (p.Met1Ile)

SNV
Germline

Chr17:43124094

Pathogenic

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Pancreatic cancer, susceptibility to, 4
Breast-ovarian cancer, familial, susceptibility to, 1
Familial cancer of breast
Fanconi anemia, complementation group S
Condition: not provided

Reviewed By Expert Panel

CA002562

rs_80357475

11 SubmittersRCV000048405 RCV000111552 RCV000131890 RCV000763402 RCV001357041

NM_007294.4(BRCA1):c.4031A>G (p.Asp1344Gly)

SNV
Germline

Chr17:43091500

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA002571

rs_55639854

11 SubmittersRCV000048411 RCV000112227 RCV000132350 RCV000586179 RCV003987342

NM_007294.4(BRCA1):c.4040G>A (p.Arg1347Lys)

SNV
Germline

Chr17:43091491

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA002579

rs_80357210

7 SubmittersRCV000112231 RCV001191518 RCV002247444 RCV003644885

NM_007294.4(BRCA1):c.4045A>C (p.Thr1349Pro)

SNV
Germline

Chr17:43091486

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA002583

rs_80357231

6 SubmittersRCV000112232 RCV001021741 RCV001359626

NM_007294.4(BRCA1):c.4054G>A (p.Glu1352Lys)

SNV
Germline

Chr17:43091477

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA002589

rs_80357202

8 SubmittersRCV000112235 RCV000132305 RCV001351578 RCV001729372

NM_007294.4(BRCA1):c.4057G>T (p.Glu1353Ter)

SNV
Germline

Chr17:43091474

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Reviewed By Expert Panel

CA002592

rs_80357178

7 SubmittersRCV000112236 RCV001021766 RCV001386122 RCV001800363

NM_007294.4(BRCA1):c.4075C>T (p.Gln1359Ter)

SNV
Germline

Chr17:43091456

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Reviewed By Expert Panel

CA002606

rs_80357456

9 SubmittersRCV000112239 RCV001383760 RCV002321549 RCV003325455

NM_007294.4(BRCA1):c.4097-2A>G

SNV
Germline

Chr17:43091034

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA002627

rs_80358019

8 SubmittersRCV000112256 RCV000522942 RCV001191516 RCV001381005

NM_007294.4(BRCA1):c.4115G>A (p.Cys1372Tyr)

SNV
Germline

Chr17:43091014

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast and/or ovarian cancer
not specified

Criteria Provided
Conflicting Classifications

CA002636

rs_55848034

11 SubmittersRCV000112263 RCV000132315 RCV000195393 RCV001284399 RCV001798247 RCV002281742

NM_007294.4(BRCA1):c.4123G>T (p.Glu1375Ter)

SNV
Germline

Chr17:43091006

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA002644

rs_80357397

6 SubmittersRCV000112266 RCV001383616 RCV003298096

NM_007294.4(BRCA1):c.415C>T (p.Gln139Ter)

SNV
Germline

Chr17:43104148

Pathogenic

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided

Reviewed By Expert Panel

CA002660

rs_80357372

7 SubmittersRCV000048460 RCV000112573 RCV002326770 RCV006258982

NM_007294.4(BRCA1):c.4166G>A (p.Ser1389Asn)

SNV
Germline

Chr17:43090963

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Breast neoplasm
not specified
Hereditary breast ovarian cancer syndrome
Familial cancer of breast
Pancreatic cancer, susceptibility to, 4
Fanconi anemia, complementation group S
Breast-ovarian cancer, familial, susceptibility to, 1
Fanconi anemia, complementation group S
Breast-ovarian cancer, familial, susceptibility to, 1
Familial cancer of breast
Condition: not provided

Criteria Provided
Conflicting Classifications

CA002665

rs_78951648

15 SubmittersRCV000077563 RCV000218513 RCV000240719 RCV000417371 RCV001506260 RCV002250543 RCV005016339 RCV005357401 RCV004998169

NM_007294.4(BRCA1):c.4183C>T (p.Gln1395Ter)

SNV
Germline

Chr17:43090946

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Breast and/or ovarian cancer
Familial cancer of breast
Malignant tumor of breast
BRCA1-related cancer predisposition

Reviewed By Expert Panel

CA002677

rs_80357260

30 SubmittersRCV000077564 RCV000162874 RCV000212181 RCV000496276 RCV000735467 RCV000778172 RCV001353792 RCV004803995

NM_007294.4(BRCA1):c.4184A>G (p.Gln1395Arg)

SNV
Germline

Chr17:43090945

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary cancer-predisposing syndrome
not specified

Criteria Provided
Conflicting Classifications

CA002678

rs_80356972

10 SubmittersRCV000048473 RCV000077565 RCV000483719 RCV000509874 RCV001193743

NM_007294.4(BRCA1):c.4185+1G>T

SNV
Germline

Chr17:43090943

Pathogenic/Likely pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Multiple Submitters
No Conflicts

CA002684

rs_80358076

6 SubmittersRCV000077566 RCV001377523 RCV002326771 RCV002272045

NM_007294.4(BRCA1):c.4185G>A (p.Gln1395=)

SNV
Germline

Chr17:43090944

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA002692

rs_80356857

9 SubmittersRCV000112286 RCV000567384 RCV000759533 RCV000779909

NM_007294.4(BRCA1):c.4186-10G>A

SNV
Germline

Chr17:43082585

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
not specified
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast and/or ovarian cancer
BRCA1-related disorder
Familial pancreatic carcinoma

Criteria Provided
Conflicting Classifications

CA002693

rs_80358172

16 SubmittersRCV000112287 RCV000212182 RCV000589275 RCV000771225 RCV001514091 RCV003149707 RCV004554673 RCV005357402

NM_007294.4(BRCA1):c.4186C>T (p.Gln1396Ter)

SNV
Germline

Chr17:43082575

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA002700

rs_80357011

9 SubmittersRCV000112291 RCV000496729 RCV000759534 RCV001022003

NM_007294.4(BRCA1):c.4201C>T (p.Gln1401Ter)

SNV
Germline

Chr17:43082560

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA002705

rs_397509151

9 SubmittersRCV000077567 RCV000581666 RCV000657618 RCV001853007

NM_007294.4(BRCA1):c.4222C>T (p.Gln1408Ter)

SNV
Germline

Chr17:43082539

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Ovarian neoplasm

Reviewed By Expert Panel

CA002719

rs_80356989

21 SubmittersRCV000077568 RCV000131888 RCV000214098 RCV000236506 RCV000785414

NM_007294.4(BRCA1):c.4232T>C (p.Met1411Thr)

SNV
Germline

Chr17:43082529

Likely pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA002723

rs_273900729

7 SubmittersRCV000112302 RCV001022101 RCV001294633 RCV004696670

NM_007294.4(BRCA1):c.4237G>T (p.Glu1413Ter)

SNV
Germline

Chr17:43082524

Pathogenic

Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA002724

rs_397509153

3 SubmittersRCV000577308 RCV000661143 RCV001388613

NM_007294.4(BRCA1):c.4258C>T (p.Gln1420Ter)

SNV
Germline

Chr17:43082503

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA002737

rs_80357305

17 SubmittersRCV000077569 RCV000236776 RCV000496798 RCV001022156

NM_007294.4(BRCA1):c.4261C>T (p.His1421Tyr)

SNV
Germline

Chr17:43082500

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Hereditary breast ovarian cancer syndrome
Clear cell carcinoma of kidney

Criteria Provided
Conflicting Classifications

CA002739

rs_80357013

17 SubmittersRCV000112306 RCV000131530 RCV000174360 RCV000679697 RCV001084565 RCV005890351

NM_007294.4(BRCA1):c.4262A>G (p.His1421Arg)

SNV
Germline

Chr17:43082499

Conflicting classifications of pathogenicity

not specified
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA002740

rs_80357079

16 SubmittersRCV000048507 RCV000083206 RCV000164576 RCV000203640 RCV000766583

NM_007294.4(BRCA1):c.4288C>T (p.Pro1430Ser)

SNV
Germline

Chr17:43082473

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
not specified
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA002750

rs_80357466

4 SubmittersRCV000112308 RCV000590640 RCV002326773 RCV003644887

NM_007294.4(BRCA1):c.4328G>A (p.Arg1443Gln)

SNV
Germline

Chr17:43082433

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
Condition: not provided
Familial pancreatic carcinoma

Criteria Provided
Conflicting Classifications

CA002771

rs_4986849

7 SubmittersRCV000112317 RCV000771435 RCV001360876 RCV002267823 RCV003477450 RCV005357403

NM_007294.4(BRCA1):c.4339C>T (p.Gln1447Ter)

SNV
Germline

Chr17:43082422

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Breast and/or ovarian cancer
Hereditary breast ovarian cancer syndrome
Familial prostate cancer
Condition: not provided

Reviewed By Expert Panel

CA002775

rs_80357067

11 SubmittersRCV000077570 RCV000448320 RCV001271023 RCV001381002 RCV003398636 RCV003477451

NM_007294.4(BRCA1):c.4342A>G (p.Ser1448Gly)

SNV
Germline

Chr17:43082419

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Breast neoplasm
not specified
Condition: not provided
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA002776

rs_80357486

13 SubmittersRCV000083207 RCV000165183 RCV000414754 RCV000420110 RCV000587513 RCV001084944

NM_007294.4(BRCA1):c.4357+1G>C

SNV
Germline

Chr17:43082403

Pathogenic/Likely pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA002789

rs_80358027

4 SubmittersRCV000112324 RCV000215639 RCV001379225

NM_007294.4(BRCA1):c.4357+1G>T

SNV
Germline

Chr17:43082403

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Reviewed By Expert Panel

CA002790

rs_80358027

11 SubmittersRCV000112325 RCV000222812 RCV000709470 RCV002255126

NM_007294.4(BRCA1):c.4357+2T>C

SNV
Germline

Chr17:43082402

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome

Criteria Provided
Single Submitter

CA002791

rs_80358152

2 SubmittersRCV000077571 RCV001388957

NM_007294.4(BRCA1):c.4370C>G (p.Ser1457Ter)

SNV
Germline

Chr17:43076602

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA002802

rs_80357130

3 SubmittersRCV000112327 RCV001388633

NM_007294.4(BRCA1):c.4372C>T (p.Gln1458Ter)

SNV
Germline/somatic

Chr17:43076600

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
BRCA1-related cancer predisposition

Reviewed By Expert Panel

CA002803

rs_80356932

11 SubmittersRCV000112328 RCV000131884 RCV000657617 RCV001381001 RCV004803997

NM_007294.4(BRCA1):c.4389C>A (p.Tyr1463Ter)

SNV
Germline

Chr17:43076583

Pathogenic

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
BRCA1-related cancer predisposition
Familial cancer of breast

Reviewed By Expert Panel

CA002813

rs_80356997

18 SubmittersRCV000048544 RCV000112330 RCV000162877 RCV000236736 RCV004803998 RCV005624312

NM_007294.4(BRCA1):c.4399C>T (p.Gln1467Ter)

SNV
Germline

Chr17:43076573

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Breast and/or ovarian cancer
Hereditary cancer-predisposing syndrome
Condition: not provided

Reviewed By Expert Panel

CA002821

rs_397509171

8 SubmittersRCV000257306 RCV000496449 RCV000735468 RCV001525143 RCV001358297

NM_007294.4(BRCA1):c.43A>C (p.Ile15Leu)

SNV
Germline

Chr17:43124054

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA002823

rs_80357031

8 SubmittersRCV000111636 RCV000132290 RCV001248950 RCV001348288

NM_007294.4(BRCA1):c.441+1G>A

SNV
Germline

Chr17:43104121

Pathogenic/Likely pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA002833

rs_397509172

7 SubmittersRCV000258349 RCV000571202 RCV001381878 RCV004700339

NM_007294.4(BRCA1):c.441+2T>A

SNV
Germline

Chr17:43104120

Pathogenic/Likely pathogenic

Breast neoplasm
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Breast and/or ovarian cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA002836

rs_397509173

8 SubmittersRCV000414341 RCV000709493 RCV000776255 RCV003129767 RCV003492387

NM_007294.4(BRCA1):c.4450T>A (p.Ser1484Thr)

SNV
Germline

Chr17:43076522

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Familial cancer of breast
Condition: not provided

Criteria Provided
Conflicting Classifications

CA002855

rs_80357404

5 SubmittersRCV000112335 RCV000165863 RCV002513661 RCV003607224 RCV004998170

NM_007294.4(BRCA1):c.4454C>T (p.Thr1485Ile)

SNV
Germline

Chr17:43076518

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA002857

rs_80356870

6 SubmittersRCV000048563 RCV000077573 RCV000167166 RCV000780980 RCV002477173

NM_007294.4(BRCA1):c.4480G>A (p.Glu1494Lys)

SNV
Germline

Chr17:43076492

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA002867

rs_80357148

7 SubmittersRCV000048568 RCV000112337 RCV000588631 RCV000566435

NM_007294.4(BRCA1):c.4480G>T (p.Glu1494Ter)

SNV
Germline

Chr17:43076492

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA002868

rs_80357148

5 SubmittersRCV000112338 RCV001853010 RCV003584532

NM_007294.4(BRCA1):c.4485-1G>A

SNV
Germline

Chr17:43074522

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Pancreatic cancer, susceptibility to, 4
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 1
Fanconi anemia, complementation group S
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Malignant tumor of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA002878

rs_80358189

14 SubmittersRCV000112343 RCV000235386 RCV000580034 RCV000496695 RCV000762999 RCV001171415 RCV001353957

NM_007294.4(BRCA1):c.4485-2A>G

SNV
Germline

Chr17:43074523

Pathogenic/Likely pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
BRCA1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA002879

rs_80358054

12 SubmittersRCV000077574 RCV000131885 RCV000235822 RCV000257895 RCV004554678

NM_007294.4(BRCA1):c.4487C>A (p.Ser1496Ter)

SNV
Germline/somatic

Chr17:43074519

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Familial cancer of breast
Ovarian neoplasm
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA002883

rs_80356953

6 SubmittersRCV000112347 RCV000585720 RCV000785566 RCV001382393

NM_007294.4(BRCA1):c.4487C>G (p.Ser1496Ter)

SNV
Germline

Chr17:43074519

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Breast and/or ovarian cancer
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA002884

rs_80356953

4 SubmittersRCV000112348 RCV000735507 RCV000496228

NM_007294.4(BRCA1):c.4508C>A (p.Ser1503Ter)

SNV
Germline

Chr17:43074498

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Malignant tumor of breast
Inherited breast cancer and ovarian cancer

Reviewed By Expert Panel

CA002889

rs_80357437

18 SubmittersRCV000112351 RCV000129157 RCV000496782 RCV000657616 RCV001354015 RCV005865224

NM_007294.4(BRCA1):c.4524G>A (p.Trp1508Ter)

SNV
Germline

Chr17:43074482

Pathogenic

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Pancreatic cancer, susceptibility to, 4
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 1
Fanconi anemia, complementation group S
not specified
Breast and/or ovarian cancer
Inherited breast cancer and ovarian cancer

Reviewed By Expert Panel

CA002893

rs_80356885

30 SubmittersRCV000048586 RCV000077575 RCV000129129 RCV000236102 RCV000762998 RCV001001033 RCV003492388 RCV004584141

NM_007294.4(BRCA1):c.4534A>T (p.Ser1512Cys)

SNV
Germline

Chr17:43074472

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
BRCA1-related disorder

Criteria Provided
Conflicting Classifications

CA002897

rs_80357137

9 SubmittersRCV000048589 RCV000112355 RCV000217284 RCV004554679

NM_007294.4(BRCA1):c.4552C>T (p.Gln1518Ter)

SNV
Germline

Chr17:43074454

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Reviewed By Expert Panel

CA002902

rs_80356881

5 SubmittersRCV000112357 RCV001853011 RCV003162416 RCV004700340

NM_007294.4(BRCA1):c.455T>C (p.Leu152Pro)

SNV
Germline

Chr17:43099867

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
not specified
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA002904

rs_80357275

9 SubmittersRCV000112710 RCV000496612 RCV000566935 RCV001298223 RCV001558020

NM_007294.4(BRCA1):c.4565A>G (p.Tyr1522Cys)

SNV
Germline

Chr17:43074441

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified

Criteria Provided
Conflicting Classifications

CA002906

rs_80357379

5 SubmittersRCV000112358 RCV000165983 RCV001342447 RCV001818228

NM_007294.4(BRCA1):c.4585A>G (p.Ile1529Val)

SNV
Germline

Chr17:43074421

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
not specified
BRCA1-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA002916

rs_80357095

9 SubmittersRCV000077577 RCV000166323 RCV000586073 RCV001432824 RCV004586524 RCV004804001

NM_007294.4(BRCA1):c.4603G>T (p.Glu1535Ter)

SNV
Germline

Chr17:43074403

Pathogenic

Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA002924

rs_80357366

16 SubmittersRCV000048603 RCV000077578 RCV000162879 RCV000235132 RCV000496846

NM_007294.4(BRCA1):c.4609C>T (p.Gln1537Ter)

SNV
Germline

Chr17:43074397

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
BRCA1-related cancer predisposition

Reviewed By Expert Panel

CA002926

rs_80357229

14 SubmittersRCV000112363 RCV000479214 RCV000509797 RCV000496357 RCV004804002

NM_007294.4(BRCA1):c.4612C>T (p.Gln1538Ter)

SNV
Germline

Chr17:43074394

Pathogenic

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA002928

rs_80356992

12 SubmittersRCV000048606 RCV000077579 RCV000420125 RCV000510121

NM_007294.4(BRCA1):c.4618G>T (p.Glu1540Ter)

SNV
Germline

Chr17:43074388

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Pancreatic cancer, susceptibility to, 4
Breast-ovarian cancer, familial, susceptibility to, 1
Fanconi anemia, complementation group S

Reviewed By Expert Panel

CA002930

rs_80357277

6 SubmittersRCV000077580 RCV001386983 RCV002326775 RCV005016340

NM_007294.4(BRCA1):c.4625C>G (p.Ser1542Cys)

SNV
Germline

Chr17:43074381

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Fanconi anemia, complementation group S

Criteria Provided
Conflicting Classifications

CA002933

rs_41293457

13 SubmittersRCV000048609 RCV000112366 RCV000129407 RCV001703953 RCV001778692 RCV005357405

NM_007294.4(BRCA1):c.4631C>T (p.Pro1544Leu)

SNV
Germline

Chr17:43074375

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA002935

rs_80356917

7 SubmittersRCV000112368 RCV000132132 RCV000479934 RCV000780989 RCV001434885

NM_007294.4(BRCA1):c.463C>T (p.Gln155Ter)

SNV
Germline

Chr17:43099859

Pathogenic

Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA002941

rs_80357180

7 SubmittersRCV000577493 RCV000660995 RCV001384584 RCV002326776

NM_007294.4(BRCA1):c.4643C>T (p.Thr1548Met)

SNV
Germline

Chr17:43074363

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 1
not specified
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA002942

rs_273900737

9 SubmittersRCV000203649 RCV000505759 RCV000112371 RCV001269177 RCV000130001

NM_007294.4(BRCA1):c.4656C>G (p.Tyr1552Ter)

SNV
Germline/somatic

Chr17:43074350

Pathogenic

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA002951

rs_80357151

6 SubmittersRCV000048620 RCV000112374 RCV002326777

NM_007294.4(BRCA1):c.4657T>A (p.Leu1553Met)

SNV
Germline

Chr17:43074349

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA002952

rs_80357431

9 SubmittersRCV000112375 RCV000164710 RCV000212184 RCV001364498

NM_007294.4(BRCA1):c.4669G>C (p.Asp1557His)

SNV
Germline

Chr17:43074337

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 1
Fanconi anemia, complementation group S

Criteria Provided
Conflicting Classifications

CA002955

rs_80356906

10 SubmittersRCV000048622 RCV000112376 RCV001176277 RCV001280674 RCV003237432 RCV005364943

NM_007294.4(BRCA1):c.4675+1G>A

SNV
Germline

Chr17:43074330

Pathogenic

Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast neoplasm
Pancreatic cancer, susceptibility to, 4
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 1
Fanconi anemia, complementation group S
Breast and/or ovarian cancer
Inherited ovarian cancer (without breast cancer)

Reviewed By Expert Panel

CA002957

rs_80358044

31 SubmittersRCV000048623 RCV000077582 RCV000131822 RCV000225764 RCV000414441 RCV000762997 RCV000735555 RCV005252719

NM_007294.4(BRCA1):c.4678G>T (p.Gly1560Ter)

SNV
Germline

Chr17:43071236

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Reviewed By Expert Panel

CA002973

rs_80357349

9 SubmittersRCV000077583 RCV000131834 RCV000496210 RCV000508627

NM_007294.4(BRCA1):c.469T>C (p.Ser157Pro)

SNV
Germline

Chr17:43099853

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA002983

rs_80356897

3 SubmittersRCV000112714 RCV002054876 RCV005791814

NM_007294.4(BRCA1):c.4733A>G (p.Asp1578Gly)

SNV
Germline

Chr17:43071181

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
Condition: not provided
BRCA1-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA002997

rs_80356930

10 SubmittersRCV000112391 RCV000130420 RCV000709467 RCV001731345 RCV004998171 RCV004804008

NM_007294.4(BRCA1):c.4741G>T (p.Glu1581Ter)

SNV
Germline

Chr17:43071173

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Familial cancer of breast

Reviewed By Expert Panel

CA003000

rs_397509193

5 SubmittersRCV000256574 RCV000496862 RCV006629069

NM_007294.4(BRCA1):c.4765C>T (p.Arg1589Cys)

SNV
Germline

Chr17:43071149

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome
Fanconi anemia, complementation group S

Criteria Provided
Conflicting Classifications

CA003012

rs_80357002

14 SubmittersRCV000083212 RCV000166139 RCV000437561 RCV001081217 RCV005364944

NM_007294.4(BRCA1):c.4789A>G (p.Thr1597Ala)

SNV
Germline

Chr17:43071125

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA003023

rs_80357187

5 SubmittersRCV000112399 RCV001346129 RCV002336185

NM_007294.4(BRCA1):c.4801A>T (p.Lys1601Ter)

SNV
Germline

Chr17:43071113

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Breast neoplasm
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Reviewed By Expert Panel

CA003028

rs_80357303

11 SubmittersRCV000077587 RCV000240804 RCV000496525 RCV000509637 RCV006258983

NM_007294.4(BRCA1):c.4810C>T (p.Gln1604Ter)

SNV
Germline

Chr17:43071104

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA003031

rs_80357352

7 SubmittersRCV000112402 RCV000215003 RCV000480361 RCV001382211

NM_007294.4(BRCA1):c.4811A>G (p.Gln1604Arg)

SNV
Germline

Chr17:43071103

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
BRCA1-related cancer predisposition
Hereditary breast ovarian cancer syndrome
Familial pancreatic carcinoma

Criteria Provided
Conflicting Classifications

CA003032

rs_80357439

8 SubmittersRCV000112403 RCV001023098 RCV001341134 RCV001770068 RCV004804010 RCV005357409

NM_007294.4(BRCA1):c.4843G>A (p.Ala1615Thr)

SNV
Germline

Chr17:43071071

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Malignant tumor of breast
Breast neoplasm
Condition: not provided
not specified
Pancreatic cancer, susceptibility to, 4
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 1
Fanconi anemia, complementation group S
Breast and/or ovarian cancer

Criteria Provided
Conflicting Classifications

CA003050

rs_80356987

20 SubmittersRCV000048677 RCV000083213 RCV000130923 RCV000235839 RCV000413325 RCV000586352 RCV002247445 RCV002483064 RCV003149708

NM_007294.4(BRCA1):c.484G>C (p.Val162Leu)

SNV
Germline

Chr17:43099838

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
not specified
BRCA1-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA003052

rs_55816927

9 SubmittersRCV000112717 RCV000223399 RCV000237044 RCV001342417 RCV002228166 RCV004804011

NM_007294.4(BRCA1):c.4882A>G (p.Met1628Val)

SNV
Germline

Chr17:43071032

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Breast neoplasm
not specified
Condition: not provided
Malignant tumor of breast
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA003061

rs_80357465

15 SubmittersRCV000112414 RCV000130592 RCV000148406 RCV000212187 RCV000761958 RCV001353677 RCV001474576

NM_007294.4(BRCA1):c.4892G>A (p.Ser1631Asn)

SNV
Germline

Chr17:43071022

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
BRCA1-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA003067

rs_273901742

7 SubmittersRCV000112418 RCV000563405 RCV001254344 RCV004804012

NM_007294.4(BRCA1):c.4903G>T (p.Glu1635Ter)

SNV
Germline/somatic

Chr17:43071011

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA003073

rs_200432771

7 SubmittersRCV000112420 RCV000129569 RCV000496337

NM_007294.4(BRCA1):c.4930G>T (p.Glu1644Ter)

SNV
Germline

Chr17:43070984

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Reviewed By Expert Panel

CA003081

rs_397509205

7 SubmittersRCV000241427 RCV000510096 RCV001380764 RCV001800364

NM_007294.4(BRCA1):c.4931A>G (p.Glu1644Gly)

SNV
Germline

Chr17:43070983

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA003082

rs_80357016

6 SubmittersRCV000112422 RCV000163234 RCV000235446 RCV001454137

NM_007294.4(BRCA1):c.4933A>G (p.Arg1645Gly)

SNV
Germline

Chr17:43070981

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA003084

rs_80356926

6 SubmittersRCV000112423 RCV001853013 RCV002336186

NM_007294.4(BRCA1):c.4935G>C (p.Arg1645Ser)

SNV
Germline

Chr17:43070979

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Malignant tumor of breast
Condition: not provided

Criteria Provided
Conflicting Classifications

CA003089

rs_80357373

10 SubmittersRCV000048698 RCV000112427 RCV000167324 RCV000235133 RCV000656790

NM_007294.4(BRCA1):c.4941C>A (p.Asn1647Lys)

SNV
Germline

Chr17:43070973

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA003092

rs_80357302

7 SubmittersRCV000112429 RCV000162826 RCV000212188 RCV000779911 RCV001476833

NM_007294.4(BRCA1):c.4957G>A (p.Val1653Met)

SNV
Germline

Chr17:43070957

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA003104

rs_80357261

5 SubmittersRCV000112435 RCV000509942 RCV001296485 RCV005255561

NM_007294.4(BRCA1):c.4964C>T (p.Ser1655Phe)

SNV
Germline

Chr17:43070950

Pathogenic/Likely pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Gastric cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA003111

rs_80357390

14 SubmittersRCV000112436 RCV000223580 RCV000709466 RCV001528321 RCV003162417

NM_007294.4(BRCA1):c.4981G>T (p.Glu1661Ter)

SNV
Germline

Chr17:43070933

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA003116

rs_80357401

7 SubmittersRCV000112440 RCV000574935 RCV001380796

NM_007294.4(BRCA1):c.4986+3G>C

SNV
Germline

Chr17:43070925

Pathogenic/Likely pathogenic

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Malignant tumor of breast
BRCA1-related cancer predisposition

Criteria Provided
Multiple Submitters
No Conflicts

CA003121

rs_80358023

24 SubmittersRCV000048721 RCV000112443 RCV000162881 RCV000236214 RCV001171416 RCV001353420 RCV004804013

NM_007294.4(BRCA1):c.4986+4A>T

SNV
Germline

Chr17:43070924

Pathogenic/Likely pathogenic

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA003123

rs_80358087

14 SubmittersRCV000048722 RCV000077590 RCV000255877 RCV000509792

NM_007294.4(BRCA1):c.4986+6T>G

SNV
Germline

Chr17:43070922

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Breast and/or ovarian cancer
Malignant tumor of breast
Breast carcinoma
Inherited breast cancer and ovarian cancer
Cervical cancer

Reviewed By Expert Panel

CA003128

rs_80358086

22 SubmittersRCV000077591 RCV000131820 RCV000236376 RCV000496750 RCV000769711 RCV001353600 RCV001554289 RCV005865225 RCV005890352

NM_007294.4(BRCA1):c.4987-2A>G

SNV
Germline

Chr17:43067697

Pathogenic

Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA003132

rs_397509212

7 SubmittersRCV000212189 RCV000258325 RCV002336187 RCV001853015

NM_007294.4(BRCA1):c.4987-3C>G

SNV
Germline

Chr17:43067698

Pathogenic/Likely pathogenic

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Multiple Submitters
No Conflicts

CA003133

rs_397509213

4 SubmittersRCV000048727 RCV000129699 RCV001077889

NM_007294.4(BRCA1):c.4987-5T>A

SNV
Germline

Chr17:43067700

Pathogenic/Likely pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA003135

rs_397509214

4 SubmittersRCV000258417 RCV002345342 RCV002514246

NM_007294.4(BRCA1):c.4993G>A (p.Val1665Met)

SNV
Germline

Chr17:43067689

Conflicting classifications of pathogenicity

Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA003143

rs_80357169

12 SubmittersRCV000048732 RCV000083214 RCV000129500 RCV000420335 RCV001080706

NM_007294.4(BRCA1):c.4997A>G (p.Tyr1666Cys)

SNV
Germline

Chr17:43067685

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA003145

rs_397509216

8 SubmittersRCV000215472 RCV000485681 RCV001072950 RCV001350265

NM_007294.4(BRCA1):c.4999A>T (p.Lys1667Ter)

SNV
Germline

Chr17:43067683

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA003149

rs_80357204

9 SubmittersRCV000112459 RCV000235971 RCV000774937 RCV001853016

NM_007294.4(BRCA1):c.503A>C (p.Lys168Thr)

SNV
Germline

Chr17:43099819

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA003167

rs_273901743

8 SubmittersRCV000112721 RCV001308334 RCV003584535 RCV005229877

NM_007294.4(BRCA1):c.5047G>T (p.Glu1683Ter)

SNV
Germline

Chr17:43067635

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA003173

rs_80356879

6 SubmittersRCV000112473 RCV000496501

NM_007294.4(BRCA1):c.5053A>G (p.Thr1685Ala)

SNV
Germline

Chr17:43067629

Pathogenic

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided

Reviewed By Expert Panel

CA003174

rs_80356890

11 SubmittersRCV000048749 RCV000112475 RCV000163024 RCV000212192

NM_007294.4(BRCA1):c.5054C>T (p.Thr1685Ile)

SNV
Germline

Chr17:43067628

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Inherited prostate cancer

Reviewed By Expert Panel

CA003175

rs_80357043

11 SubmittersRCV000112476 RCV001853017 RCV002336188 RCV004998172 RCV006439620

NM_007294.4(BRCA1):c.5058T>A (p.His1686Gln)

SNV
Germline

Chr17:43067624

Pathogenic

Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome

Criteria Provided
Single Submitter

CA003178

rs_397509218

3 SubmittersRCV000577351 RCV001076302 RCV002513663

NM_007294.4(BRCA1):c.505C>T (p.Gln169Ter)

SNV
Germline

Chr17:43099817

Pathogenic

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Breast and/or ovarian cancer
Hereditary cancer-predisposing syndrome
Malignant tumor of breast
Condition: not provided

Reviewed By Expert Panel

CA003179

rs_80357133

15 SubmittersRCV000048752 RCV000112722 RCV000735469 RCV000775189 RCV001353667 RCV004700341

NM_007294.4(BRCA1):c.5066T>C (p.Met1689Thr)

SNV
Germline

Chr17:43067616

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
BRCA1-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA003181

rs_80357061

14 SubmittersRCV000112480 RCV000503511 RCV000509930 RCV000587374 RCV000855576 RCV004804014

NM_007294.4(BRCA1):c.5068A>C (p.Lys1690Gln)

SNV
Germline

Chr17:43067614

Conflicting classifications of pathogenicity

not specified
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast neoplasm
Condition: not provided
Pancreatic cancer, susceptibility to, 4
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 1
Fanconi anemia, complementation group S
Malignant tumor of breast

Criteria Provided
Conflicting Classifications

CA003183

rs_397507239

15 SubmittersRCV000048756 RCV000077592 RCV000130370 RCV000225765 RCV000240688 RCV000656791 RCV000765357 RCV001353418

NM_007294.4(BRCA1):c.5071A>G (p.Thr1691Ala)

SNV
Germline

Chr17:43067611

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA003187

rs_397509219

9 SubmittersRCV000589379 RCV000573049 RCV000662496 RCV001360741 RCV003607225

NM_007294.4(BRCA1):c.5074+3A>G

SNV
Germline

Chr17:43067605

Pathogenic/Likely pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
not specified
Breast and/or ovarian cancer
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Pancreatic cancer, susceptibility to, 4
Fanconi anemia, complementation group S

Criteria Provided
Multiple Submitters
No Conflicts

CA003197

rs_80358181

16 SubmittersRCV000112483 RCV000255098 RCV000496317 RCV001271029 RCV001378309 RCV002345343 RCV004795988

NM_007294.4(BRCA1):c.5075-1G>A

SNV
Germline

Chr17:43063952

Pathogenic/Likely pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast neoplasm
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA003204

rs_1800747

13 SubmittersRCV000112485 RCV000496384 RCV000480623 RCV000504600 RCV000585700 RCV000579615

NM_007294.4(BRCA1):c.5075-1G>T

SNV
Germline

Chr17:43063952

Pathogenic/Likely pathogenic

Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA003206

rs_1800747

4 SubmittersRCV000577513 RCV001078022 RCV001390607 RCV002336189

NM_007294.4(BRCA1):c.5075-2A>C

SNV
Germline

Chr17:43063953

Pathogenic/Likely pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA003207

rs_80358066

11 SubmittersRCV000112487 RCV000496666 RCV001353955 RCV004018959

NM_007294.4(BRCA1):c.5075-8T>G

SNV
Germline

Chr17:43063959

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA003214

rs_397509221

4 SubmittersRCV000258271 RCV002345344 RCV006461327

NM_007294.4(BRCA1):c.5075A>T (p.Asp1692Val)

SNV
Germline

Chr17:43063951

Likely pathogenic

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
BRCA1-related cancer predisposition

Reviewed By Expert Panel

CA003216

rs_397509222

9 SubmittersRCV000048776 RCV000238743 RCV000486285 RCV000510122 RCV000766432 RCV005415399

NM_007294.4(BRCA1):c.5080G>T (p.Glu1694Ter)

SNV
Germline

Chr17:43063946

Pathogenic

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary cancer-predisposing syndrome
BRCA1-related disorder

Reviewed By Expert Panel

CA003221

rs_80356896

20 SubmittersRCV000048780 RCV000077593 RCV000255531 RCV000580802 RCV004554685

NM_007294.4(BRCA1):c.5085T>A (p.Phe1695Leu)

SNV
Germline

Chr17:43063941

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA003223

rs_80357387

4 SubmittersRCV000112493 RCV000562837 RCV001853018

NM_007294.4(BRCA1):c.5089T>C (p.Cys1697Arg)

SNV
Germline

Chr17:43063937

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Malignant tumor of breast
BRCA1-related cancer predisposition

Reviewed By Expert Panel

CA003228

rs_80356993

15 SubmittersRCV000077594 RCV000163799 RCV001284299 RCV001378925 RCV001357130 RCV004566893

NM_007294.4(BRCA1):c.5095C>T (p.Arg1699Trp)

SNV
Germline

Chr17:43063931

Pathogenic

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Breast and colorectal cancer
Condition: not provided
Fanconi anemia complementation group A
Ovarian cancer
Familial cancer of breast
Fanconi anemia, complementation group S
Malignant tumor of breast
Endometrial carcinoma
BRCA1-related cancer predisposition

Reviewed By Expert Panel

CA003234

rs_55770810

44 SubmittersRCV000048789 RCV000077595 RCV000131821 RCV000148390 RCV000159999 RCV000191041 RCV000239322 RCV000457515 RCV000585864 RCV001357133 RCV003128133 RCV004804015

NM_007294.4(BRCA1):c.5096G>T (p.Arg1699Leu)

SNV
Germline

Chr17:43063930

Likely pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA003237

rs_41293459

4 SubmittersRCV000112497 RCV001306989

NM_007294.4(BRCA1):c.5098A>G (p.Thr1700Ala)

SNV
Germline

Chr17:43063928

Likely pathogenic

Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
BRCA1-related cancer predisposition

Reviewed By Expert Panel

CA003238

rs_397509227

6 SubmittersRCV000519293 RCV001078046 RCV001367052 RCV002345345 RCV005628794

NM_007294.4(BRCA1):c.509G>A (p.Arg170Gln)

SNV
Germline

Chr17:43099813

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
not specified
Condition: not provided
Hereditary breast ovarian cancer syndrome
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 1
Fanconi anemia, complementation group S

Criteria Provided
Conflicting Classifications

CA003240

rs_80357264

14 SubmittersRCV000130039 RCV000112724 RCV000487016 RCV000656995 RCV001089404 RCV005357411

NM_007294.4(BRCA1):c.5109T>G (p.Tyr1703Ter)

SNV
Germline

Chr17:43063917

Pathogenic

Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA003244

rs_80356974

19 SubmittersRCV000048797 RCV000077597 RCV000162883 RCV000195365

NM_007294.4(BRCA1):c.5123C>A (p.Ala1708Glu)

SNV
Germline

Chr17:43063903

Pathogenic

Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast neoplasm
Familial cancer of breast
Breast carcinoma
Breast and/or ovarian cancer
BRCA1-related disorder
BRCA1-related cancer predisposition

Reviewed By Expert Panel

CA003252

rs_28897696

39 SubmittersRCV000048802 RCV000077599 RCV000131831 RCV000167826 RCV000413608 RCV000457403 RCV001579293 RCV003149709 RCV004758631 RCV004804017

NM_007294.4(BRCA1):c.5136G>A (p.Trp1712Ter)

SNV
Germline

Chr17:43063890

Pathogenic

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided

Reviewed By Expert Panel

CA003260

rs_80357418

16 SubmittersRCV000048806 RCV000077600 RCV000131830 RCV000475804 RCV000481118

NM_007294.4(BRCA1):c.5138T>C (p.Val1713Ala)

SNV
Germline

Chr17:43063888

Likely pathogenic

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary cancer-predisposing syndrome
BRCA1-related cancer predisposition
Fanconi anemia, complementation group S

Reviewed By Expert Panel

CA003262

rs_80357132

16 SubmittersRCV000048808 RCV000112502 RCV000733369 RCV001023598 RCV006258984 RCV005357412

NM_007294.4(BRCA1):c.5141T>G (p.Val1714Gly)

SNV
Germline

Chr17:43063885

Pathogenic/Likely pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Breast neoplasm
Hereditary breast ovarian cancer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA003263

rs_80357243

7 SubmittersRCV000112504 RCV000129696 RCV000677817 RCV001376912

NM_007294.4(BRCA1):c.5143A>C (p.Ser1715Arg)

SNV
Germline

Chr17:43063883

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA003264

rs_80357222

10 SubmittersRCV000112505 RCV001383430 RCV002267824 RCV006362042

NM_007294.4(BRCA1):c.5143A>T (p.Ser1715Cys)

SNV
Germline

Chr17:43063883

Likely pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
BRCA1-related cancer predisposition

Reviewed By Expert Panel

CA003265

rs_80357222

8 SubmittersRCV000112506 RCV000129744 RCV000586760 RCV001280538 RCV006258985

NM_007294.4(BRCA1):c.5144G>A (p.Ser1715Asn)

SNV
Germline

Chr17:43063882

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA003266

rs_45444999

11 SubmittersRCV000112507 RCV000508636 RCV001023609 RCV001853019

NM_007294.4(BRCA1):c.5145C>G (p.Ser1715Arg)

SNV
Germline

Chr17:43063881

Pathogenic/Likely pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA003268

rs_80357094

7 SubmittersRCV000112509 RCV002336193 RCV005089439 RCV006277696

NM_007294.4(BRCA1):c.514C>T (p.Gln172Ter)

SNV
Germline

Chr17:43099808

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA003273

rs_80356947

15 SubmittersRCV000077602 RCV000496876 RCV001269949 RCV004601103

NM_007294.4(BRCA1):c.5152+1G>T

SNV
Germline

Chr17:43063873

Pathogenic

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Inherited breast cancer and ovarian cancer

Reviewed By Expert Panel

CA003281

rs_80358094

11 SubmittersRCV000048820 RCV000112516 RCV000771916 RCV002281895 RCV006436421

NM_007294.4(BRCA1):c.5152+3A>C

SNV
Germline

Chr17:43063871

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
BRCA1-related cancer predisposition

Reviewed By Expert Panel

CA003285

rs_80358124

7 SubmittersRCV000112517 RCV001853020 RCV005251053 RCV006276060

NM_007294.4(BRCA1):c.5152+4A>G

SNV
Germline

Chr17:43063870

Conflicting classifications of pathogenicity

Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA003287

rs_397509232

6 SubmittersRCV000577541 RCV001076459 RCV002336194 RCV005089440

NM_007294.4(BRCA1):c.5152+5G>A

SNV
Germline

Chr17:43063869

Pathogenic/Likely pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Ovarian cancer
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA003288

rs_80358165

12 SubmittersRCV000083217 RCV000779869 RCV001179280 RCV003312992 RCV003328553

NM_007294.4(BRCA1):c.5153-1G>A

SNV
Germline

Chr17:43063374

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 1
Fanconi anemia, complementation group S

Reviewed By Expert Panel

CA003295

rs_80358137

13 SubmittersRCV000112530 RCV000496373 RCV000522401 RCV001023627 RCV005394283

NM_007294.4(BRCA1):c.5153-1G>T

SNV
Germline

Chr17:43063374

Pathogenic

Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome

Criteria Provided
Single Submitter

CA003298

rs_80358137

3 SubmittersRCV000577472 RCV001072408 RCV001853021

NM_007294.4(BRCA1):c.5153G>A (p.Trp1718Ter)

SNV
Germline/somatic

Chr17:43063373

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Malignant tumor of urinary bladder

Reviewed By Expert Panel

CA003304

rs_41293461

10 SubmittersRCV000112537 RCV000131832 RCV002513665 RCV003133131 RCV003332110

NM_007294.4(BRCA1):c.5153G>C (p.Trp1718Ser)

SNV
Germline

Chr17:43063373

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA003305

rs_41293461

5 SubmittersRCV000112538 RCV001269394

NM_007294.4(BRCA1):c.5154G>A (p.Trp1718Ter)

SNV
Germline

Chr17:43063372

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Malignant tumor of breast

Reviewed By Expert Panel

CA003306

rs_80357239

18 SubmittersRCV000077604 RCV000212195 RCV000580491 RCV000779910 RCV001358501

NM_007294.4(BRCA1):c.5154G>T (p.Trp1718Cys)

SNV
Germline

Chr17:43063372

Pathogenic/Likely pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Gastric cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA003307

rs_80357239

10 SubmittersRCV000112539 RCV000129752 RCV000482189 RCV001328383 RCV003162418

NM_007294.4(BRCA1):c.5165C>T (p.Ser1722Phe)

SNV
Germline

Chr17:43063361

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Malignant tumor of breast
Pancreatic cancer, susceptibility to, 4
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 1
Fanconi anemia, complementation group S

Criteria Provided
Conflicting Classifications

CA003318

rs_80357104

21 SubmittersRCV000048839 RCV000077606 RCV000214443 RCV000236284 RCV001354040 RCV002490620

NM_007294.4(BRCA1):c.5173G>T (p.Glu1725Ter)

SNV
Germline/somatic

Chr17:43063353

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA003319

rs_80357291

8 SubmittersRCV000112544 RCV000657594 RCV001179279 RCV002513666

NM_007294.4(BRCA1):c.5176A>G (p.Arg1726Gly)

SNV
Germline

Chr17:43063350

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Hereditary breast ovarian cancer syndrome
Breast and/or ovarian cancer

Criteria Provided
Conflicting Classifications

CA003321

rs_80357501

12 SubmittersRCV000083218 RCV000164694 RCV000484207 RCV001311125 RCV001487028 RCV003492392

NM_007294.4(BRCA1):c.5189A>G (p.Asn1730Ser)

SNV
Germline

Chr17:43063337

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Hereditary breast ovarian cancer syndrome
BRCA1-related disorder
Fanconi anemia, complementation group S

Criteria Provided
Conflicting Classifications

CA003331

rs_80357171

15 SubmittersRCV000077607 RCV000132266 RCV000235134 RCV000985247 RCV001305771 RCV004758633 RCV005364945

NM_007294.4(BRCA1):c.5193+1G>C

SNV
Germline/somatic

Chr17:43063332

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Fanconi anemia, complementation group S

Criteria Provided
Multiple Submitters
No Conflicts

CA003337

rs_80358004

7 SubmittersRCV000112550 RCV000131171 RCV000486220 RCV003529968 RCV005357413

NM_007294.4(BRCA1):c.5194-12G>A

SNV
Germline

Chr17:43057147

Pathogenic

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Pancreatic cancer, susceptibility to, 4
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 1
Fanconi anemia, complementation group S
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
BRCA1-related cancer predisposition
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 1
Fanconi anemia, complementation group S

Reviewed By Expert Panel

CA003343

rs_80358079

12 SubmittersRCV000048851 RCV000077608 RCV000583637 RCV000762996 RCV001171437 RCV004566894 RCV005394284

NM_007294.4(BRCA1):c.5207T>G (p.Val1736Gly)

SNV
Germline

Chr17:43057122

Pathogenic/Likely pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
not specified
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA003358

rs_45553935

7 SubmittersRCV000112563 RCV000585937 RCV001171388 RCV001023725

NM_007294.4(BRCA1):c.5212G>A (p.Gly1738Arg)

SNV
Germline

Chr17:43057117

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast

Reviewed By Expert Panel

CA003363

rs_80356937

17 SubmittersRCV000112566 RCV000239131 RCV000579604 RCV000985433 RCV002250544

NM_007294.4(BRCA1):c.5213G>A (p.Gly1738Glu)

SNV
Germline

Chr17:43057116

Pathogenic/Likely pathogenic

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA003365

rs_80357450

15 SubmittersRCV000048864 RCV000077609 RCV001190130 RCV003321494

NM_007294.4(BRCA1):c.5215G>T (p.Asp1739Tyr)

SNV
Germline

Chr17:43057114

Pathogenic/Likely pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA003366

rs_80357283

5 SubmittersRCV000112568 RCV002513667 RCV006362043

NM_007294.4(BRCA1):c.5216A>G (p.Asp1739Gly)

SNV
Germline

Chr17:43057113

Pathogenic/Likely pathogenic

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Malignant tumor of breast
Condition: not provided
Breast and/or ovarian cancer
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA003367

rs_80357227

14 SubmittersRCV000048867 RCV000112569 RCV000503925 RCV000484882 RCV000735457 RCV001804782

NM_007294.4(BRCA1):c.5216A>T (p.Asp1739Val)

SNV
Germline

Chr17:43057113

Pathogenic/Likely pathogenic

Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA003368

rs_80357227

7 SubmittersRCV000520251 RCV000614231 RCV001378028

NM_007294.4(BRCA1):c.5239C>T (p.Gln1747Ter)

SNV
Germline

Chr17:43057090

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Reviewed By Expert Panel

CA003379

rs_80357367

11 SubmittersRCV000112575 RCV000580781 RCV000779874 RCV001358372

NM_007294.4(BRCA1):c.5242G>A (p.Gly1748Ser)

SNV
Germline

Chr17:43057087

Conflicting classifications of pathogenicity

Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA003382

rs_397507245

5 SubmittersRCV000577664 RCV001076669 RCV002336198 RCV003529970 RCV005411313

NM_007294.4(BRCA1):c.5243G>A (p.Gly1748Asp)

SNV
Germline

Chr17:43057086

Pathogenic/Likely pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Malignant tumor of breast
Hereditary breast ovarian cancer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA003385

rs_397509243

12 SubmittersRCV000077610 RCV000164686 RCV000508679 RCV001357464 RCV001377358

NM_007294.4(BRCA1):c.5245C>G (p.Pro1749Ala)

SNV
Germline

Chr17:43057084

Conflicting classifications of pathogenicity

Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA003386

rs_397509244

6 SubmittersRCV000577593 RCV001077078 RCV001254348 RCV003298097

NM_007294.4(BRCA1):c.5251C>T (p.Arg1751Ter)

SNV
Germline

Chr17:43057078

Pathogenic

Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Breast neoplasm
Familial cancer of breast
Pancreatic cancer, susceptibility to, 4
Fanconi anemia, complementation group S
Breast-ovarian cancer, familial, susceptibility to, 1
Familial cancer of breast
Breast and/or ovarian cancer
Inherited ovarian cancer (without breast cancer)
Gastric cancer

Reviewed By Expert Panel

CA003389

rs_80357123

47 SubmittersRCV000048882 RCV000074600 RCV000077611 RCV000162884 RCV000414226 RCV000786961 RCV000763399 RCV001270975 RCV006555387 RCV005890353

NM_007294.4(BRCA1):c.5252G>C (p.Arg1751Pro)

SNV
Germline

Chr17:43057077

Likely pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Fanconi anemia, complementation group S
BRCA1-related cancer predisposition

Reviewed By Expert Panel

CA003392

rs_80357442

8 SubmittersRCV000112580 RCV000567938 RCV001378200 RCV001811343 RCV005364946 RCV005628795

NM_007294.4(BRCA1):c.5254G>C (p.Ala1752Pro)

SNV
Germline

Chr17:43057075

Pathogenic/Likely pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Pancreatic cancer, susceptibility to, 4
Breast-ovarian cancer, familial, susceptibility to, 1
Fanconi anemia, complementation group S

Criteria Provided
Multiple Submitters
No Conflicts

CA003394

rs_80357074

6 SubmittersRCV000112581 RCV000563666 RCV001326888 RCV003321495 RCV004819215

NM_007294.4(BRCA1):c.5258G>C (p.Arg1753Thr)

SNV
Germline

Chr17:43057071

Conflicting classifications of pathogenicity

Familial cancer of breast
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Breast carcinoma
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA003398

rs_397509246

6 SubmittersRCV000577271 RCV000759559 RCV001072582 RCV001379222 RCV001554320 RCV005402836

NM_007294.4(BRCA1):c.5260G>T (p.Glu1754Ter)

SNV
Germline

Chr17:43057069

Pathogenic

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA003403

rs_80357432

8 SubmittersRCV000048891 RCV000112584 RCV000985436 RCV002336199

NM_007294.4(BRCA1):c.5266C>T (p.Gln1756Ter)

SNV
Germline

Chr17:43057063

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA003410

rs_397509247

9 SubmittersRCV000257437 RCV000657590 RCV000774930 RCV001385497

NM_007294.4(BRCA1):c.5278-1G>A

SNV
Germline

Chr17:43051118

Pathogenic

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA003432

rs_80358099

8 SubmittersRCV000048903 RCV000112597 RCV000579697

NM_007294.4(BRCA1):c.5278-1G>C

SNV
Germline

Chr17:43051118

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Gastric cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA003434

rs_80358099

13 SubmittersRCV000077612 RCV000129416 RCV000482206 RCV000496568 RCV003162419

NM_007294.4(BRCA1):c.5278-1G>T

SNV
Germline

Chr17:43051118

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA003436

rs_80358099

10 SubmittersRCV000112598 RCV000212198 RCV000568672 RCV001192500

NM_007294.4(BRCA1):c.5282T>C (p.Phe1761Ser)

SNV
Germline

Chr17:43051113

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
BRCA1-related cancer predisposition

Reviewed By Expert Panel

CA003442

rs_80356905

9 SubmittersRCV000112600 RCV000131349 RCV001194348 RCV006258986

NM_007294.4(BRCA1):c.5288G>T (p.Gly1763Val)

SNV
Germline

Chr17:43051107

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
not specified
Hereditary cancer-predisposing syndrome
BRCA1-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA003445

rs_80357007

10 SubmittersRCV000048910 RCV000112603 RCV000212199 RCV000508603 RCV001023867 RCV004804020

NM_007294.4(BRCA1):c.5291T>C (p.Leu1764Pro)

SNV
Germline

Chr17:43051104

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Reviewed By Expert Panel

CA003449

rs_80357281

12 SubmittersRCV000112604 RCV000509995 RCV000588744 RCV001528204

NM_007294.4(BRCA1):c.5306A>G (p.Tyr1769Cys)

SNV
Germline

Chr17:43051089

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
not specified
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Malignant tumor of breast
Breast and/or ovarian cancer

Criteria Provided
Conflicting Classifications

CA003458

rs_397509257

16 SubmittersRCV000048917 RCV000120264 RCV000166677 RCV000409270 RCV000657045 RCV001353476 RCV003492393

NM_007294.4(BRCA1):c.5307T>A (p.Tyr1769Ter)

SNV
Germline

Chr17:43051088

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA003459

rs_397509258

6 SubmittersRCV000257181 RCV000657588 RCV001390970

NM_007294.4(BRCA1):c.5312C>G (p.Pro1771Arg)

SNV
Germline

Chr17:43051083

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA003466

rs_80357025

4 SubmittersRCV000112609 RCV001367865 RCV006362045

NM_007294.4(BRCA1):c.5312C>T (p.Pro1771Leu)

SNV
Germline

Chr17:43051083

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA003467

rs_80357025

5 SubmittersRCV000112610 RCV000219660 RCV005089441

NM_007294.4(BRCA1):c.5317A>T (p.Thr1773Ser)

SNV
Germline

Chr17:43051078

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
not specified
Fanconi anemia, complementation group S

Criteria Provided
Conflicting Classifications

CA003470

rs_80357324

11 SubmittersRCV000077613 RCV000164158 RCV001545333 RCV001498333 RCV003235023 RCV005357416

NM_007294.4(BRCA1):c.5318C>T (p.Thr1773Ile)

SNV
Germline

Chr17:43051077

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
not specified
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA003471

rs_80357428

10 SubmittersRCV000048926 RCV000077614 RCV001770069 RCV000496809 RCV000509679

NM_007294.4(BRCA1):c.5332+1G>A

SNV
Germline

Chr17:43051062

Pathogenic

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA003484

rs_80358041

15 SubmittersRCV000048933 RCV000112615 RCV000508361 RCV000565923

NM_007294.4(BRCA1):c.5332+1G>C

SNV
Germline

Chr17:43051062

Pathogenic

Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA003485

rs_80358041

8 SubmittersRCV000235344 RCV000662852 RCV001390392 RCV001182078

NM_007294.4(BRCA1):c.5332G>A (p.Asp1778Asn)

SNV
Germline

Chr17:43051063

Pathogenic

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
BRCA1-related cancer predisposition

Reviewed By Expert Panel

CA003491

rs_80357112

13 SubmittersRCV000048936 RCV000077615 RCV000131398 RCV000587684 RCV005628796

NM_007294.4(BRCA1):c.5333-1G>A

SNV
Germline

Chr17:43049195

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Fanconi anemia, complementation group S
Pancreatic cancer, susceptibility to, 4
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Multiple Submitters
No Conflicts

CA003494

rs_80358126

7 SubmittersRCV000169281 RCV000758843 RCV001384038 RCV002345349 RCV004795989

NM_007294.4(BRCA1):c.5333-1G>C

SNV
Germline

Chr17:43049195

Pathogenic/Likely pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA003496

rs_80358126

6 SubmittersRCV000112620 RCV001182076 RCV001390969

NM_007294.4(BRCA1):c.5333-3T>G

SNV
Germline

Chr17:43049197

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA003499

rs_397509265

6 SubmittersRCV000258438 RCV000845278 RCV004018961

NM_007294.4(BRCA1):c.5333-6T>G

SNV
Germline

Chr17:43049200

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA003501

rs_397509266

10 SubmittersRCV000577734 RCV000580810 RCV001076823 RCV001367051 RCV001800366

NM_007294.4(BRCA1):c.5333A>G (p.Asp1778Gly)

SNV
Germline

Chr17:43049194

Conflicting classifications of pathogenicity

not specified
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Malignant tumor of breast
BRCA1-related disorder

Criteria Provided
Conflicting Classifications

CA003503

rs_80357041

15 SubmittersRCV000048945 RCV000077617 RCV000129616 RCV000589573 RCV001081585 RCV001353416 RCV004554689

NM_007294.4(BRCA1):c.5335C>T (p.Gln1779Ter)

SNV
Germline

Chr17:43049192

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Inherited breast cancer and ovarian cancer

Reviewed By Expert Panel

CA003506

rs_397509267

8 SubmittersRCV000257216 RCV000573772 RCV000657615 RCV001390967 RCV006449972

NM_007294.4(BRCA1):c.5339T>C (p.Leu1780Pro)

SNV
Germline

Chr17:43049188

Pathogenic/Likely pathogenic

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Fanconi anemia, complementation group S

Criteria Provided
Multiple Submitters
No Conflicts

CA003508

rs_80357474

14 SubmittersRCV000048948 RCV000112624 RCV000132201 RCV000236823 RCV005357417

NM_007294.4(BRCA1):c.5341G>T (p.Glu1781Ter)

SNV
Germline

Chr17:43049186

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Breast and/or ovarian cancer
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA003511

rs_397509268

6 SubmittersRCV000083220 RCV001270977 RCV003529971

NM_007294.4(BRCA1):c.5345G>A (p.Trp1782Ter)

SNV
Germline

Chr17:43049182

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Reviewed By Expert Panel

CA003512

rs_80357219

12 SubmittersRCV000112626 RCV000496911 RCV000575788 RCV001795043

NM_007294.4(BRCA1):c.5347A>C (p.Met1783Leu)

SNV
Germline

Chr17:43049180

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
not specified

Criteria Provided
Conflicting Classifications

CA003515

rs_80357012

14 SubmittersRCV000048953 RCV000112627 RCV000220027 RCV000590089 RCV002250545 RCV002267825

NM_007294.4(BRCA1):c.5353C>T (p.Gln1785Ter)

SNV
Germline

Chr17:43049174

Pathogenic

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary cancer-predisposing syndrome
Malignant tumor of breast

Reviewed By Expert Panel

CA003519

rs_80356969

16 SubmittersRCV000048955 RCV000077618 RCV000236216 RCV000223567 RCV001353874

NM_007294.4(BRCA1):c.5362G>T (p.Gly1788Cys)

SNV
Germline

Chr17:43049165

Likely pathogenic

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA003528

rs_397509271

5 SubmittersRCV000577373 RCV000563925 RCV001076845 RCV001342446

NM_007294.4(BRCA1):c.5365G>A (p.Ala1789Thr)

SNV
Germline

Chr17:43049162

Likely pathogenic

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
BRCA1-related cancer predisposition

Reviewed By Expert Panel

CA003531

rs_80357078

10 SubmittersRCV000048962 RCV000580411 RCV000989865 RCV001795044 RCV006258987

NM_007294.4(BRCA1):c.5365G>T (p.Ala1789Ser)

SNV
Germline

Chr17:43049162

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA003533

rs_80357078

14 SubmittersRCV000112629 RCV000580957 RCV001689610 RCV001853023 RCV004017357

NM_007294.4(BRCA1):c.53T>A (p.Met18Lys)

SNV
Germline

Chr17:43124044

Pathogenic/Likely pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
not specified
Hereditary breast ovarian cancer syndrome
Breast and/or ovarian cancer
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA003549

rs_80356929

8 SubmittersRCV000111654 RCV000496411 RCV001254329 RCV001798249 RCV006258988

NM_007294.4(BRCA1):c.5406+4A>G

SNV
Germline

Chr17:43049117

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA003557

rs_397509279

8 SubmittersRCV000256115 RCV001024049 RCV001072852 RCV002513668

NM_007294.4(BRCA1):c.5406+5G>C

SNV
Germline

Chr17:43049116

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary breast ovarian cancer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA003560

rs_80358073

5 SubmittersRCV000165857 RCV000258309 RCV000985439 RCV001379221

NM_007294.4(BRCA1):c.5407-2A>G

SNV
Germline

Chr17:43047705

Pathogenic/Likely pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA003572

rs_80358002

8 SubmittersRCV000112645 RCV000786786 RCV002514247 RCV006362046

NM_007294.4(BRCA1):c.5416C>G (p.Pro1806Ala)

SNV
Germline

Chr17:43047694

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA003580

rs_80357241

9 SubmittersRCV000112648 RCV000164214 RCV001174629 RCV001419359 RCV003477455

NM_007294.4(BRCA1):c.5425G>T (p.Val1809Phe)

SNV
Germline

Chr17:43047685

Likely pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
BRCA1-related cancer predisposition

Reviewed By Expert Panel

CA003588

rs_28897698

9 SubmittersRCV000112651 RCV000235944 RCV001185950 RCV001302952 RCV006258989

NM_007294.4(BRCA1):c.5426T>C (p.Val1809Ala)

SNV
Germline

Chr17:43047684

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA003589

rs_80357216

5 SubmittersRCV000112653 RCV001367050

NM_007294.4(BRCA1):c.5431C>T (p.Gln1811Ter)

SNV
Germline/somatic

Chr17:43047679

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Malignant tumor of urinary bladder
Familial cancer of breast
Pancreatic cancer, susceptibility to, 4

Reviewed By Expert Panel

CA003593

rs_397509283

18 SubmittersRCV000238731 RCV000235642 RCV000779877 RCV001024097 RCV003332111 RCV004804023 RCV004764759

NM_007294.4(BRCA1):c.5432A>G (p.Gln1811Arg)

SNV
Germline

Chr17:43047678

Pathogenic/Likely pathogenic

Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
BRCA1-related cancer predisposition

Criteria Provided
Multiple Submitters
No Conflicts

CA003594

rs_80357040

11 SubmittersRCV000048993 RCV000077623 RCV000165979 RCV000195396 RCV004804024

NM_007294.4(BRCA1):c.5444G>A (p.Trp1815Ter)

SNV
Germline

Chr17:43047666

Pathogenic

Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast neoplasm
Breast and/or ovarian cancer
Pancreatic cancer, susceptibility to, 4
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 1
Fanconi anemia, complementation group S
Ovarian neoplasm
Malignant tumor of breast
Breast carcinoma

Reviewed By Expert Panel

CA003599

rs_80356962

34 SubmittersRCV000048996 RCV000112656 RCV000162887 RCV000167788 RCV000414344 RCV000735516 RCV000763398 RCV000785212 RCV001353974 RCV001554250

NM_007294.4(BRCA1):c.5445G>A (p.Trp1815Ter)

SNV
Germline

Chr17:43047665

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Gastric cancer

Reviewed By Expert Panel

CA003600

rs_397509284

11 SubmittersRCV000077624 RCV000166210 RCV000496513 RCV003162420

NM_007294.4(BRCA1):c.5467G>A (p.Ala1823Thr)

SNV
Germline

Chr17:43047643

Pathogenic/Likely pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA003618

rs_80357212

13 SubmittersRCV000112662 RCV001091356 RCV001380441 RCV002345354

NM_007294.4(BRCA1):c.547+1G>T

SNV
Germline

Chr17:43099774

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA003633

rs_80358030

13 SubmittersRCV000112730 RCV000216456 RCV000212159 RCV000496454

NM_007294.4(BRCA1):c.5478G>T (p.Gln1826His)

SNV
Germline

Chr17:43045792

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA003641

rs_80357332

5 SubmittersRCV000112669 RCV001853025 RCV001753467

NM_007294.4(BRCA1):c.5488G>A (p.Ala1830Thr)

SNV
Germline

Chr17:43045782

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA003657

rs_80357393

5 SubmittersRCV000112673 RCV001363804 RCV002345355

NM_007294.4(BRCA1):c.5497G>A (p.Val1833Met)

SNV
Germline

Chr17:43045773

Pathogenic/Likely pathogenic

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA003667

rs_80357268

16 SubmittersRCV000049017 RCV000077626 RCV000132307 RCV000255915 RCV002247446

NM_007294.4(BRCA1):c.5503C>T (p.Arg1835Ter)

SNV
Germline/somatic

Chr17:43045767

Pathogenic

Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast neoplasm
Familial cancer of breast
Breast and/or ovarian cancer
Ovarian neoplasm
Malignant tumor of breast
Familial cancer of breast
Ovarian neoplasm
Lung cancer
Breast carcinoma
Pancreatic cancer, susceptibility to, 4
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 1
Fanconi anemia, complementation group S
Gastric cancer
Inherited breast cancer and ovarian cancer

Reviewed By Expert Panel

CA003674

rs_41293465

56 SubmittersRCV000049020 RCV000077627 RCV000131862 RCV000203652 RCV000240766 RCV000238956 RCV000735447 RCV000785213 RCV001353835 RCV001527479 RCV001554249 RCV002496720 RCV003162421 RCV004772834

NM_007294.4(BRCA1):c.5504G>A (p.Arg1835Gln)

SNV
Germline

Chr17:43045766

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
not specified
Breast neoplasm
Condition: not provided

Criteria Provided
Conflicting Classifications

CA003676

rs_273902776

19 SubmittersRCV000049023 RCV000112685 RCV000130437 RCV000120265 RCV000240743 RCV000588102

NM_007294.4(BRCA1):c.5506G>A (p.Glu1836Lys)

SNV
Germline

Chr17:43045764

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast and/or ovarian cancer
not specified
Breast-ovarian cancer, familial, susceptibility to, 1
Fanconi anemia, complementation group S
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA003678

rs_80356942

13 SubmittersRCV000112686 RCV000168525 RCV000195397 RCV000219922 RCV000735480 RCV005237483 RCV005357419

NM_007294.4(BRCA1):c.5509T>G (p.Trp1837Gly)

SNV
Germline

Chr17:43045761

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Malignant tumor of breast
Hereditary breast ovarian cancer syndrome
BRCA1-related cancer predisposition

Reviewed By Expert Panel

CA003681

rs_80356959

8 SubmittersRCV000112688 RCV000130013 RCV000499847 RCV001380439 RCV004566895

NM_007294.4(BRCA1):c.5510G>A (p.Trp1837Ter)

SNV
Germline

Chr17:43045760

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Uterine corpus cancer

Reviewed By Expert Panel

CA003684

rs_80357307

13 SubmittersRCV000112689 RCV000218206 RCV000496922 RCV001268343 RCV003128134

NM_007294.4(BRCA1):c.5511G>A (p.Trp1837Ter)

SNV
Germline

Chr17:43045759

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Breast and/or ovarian cancer
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA003685

rs_80356914

10 SubmittersRCV000112692 RCV000496465 RCV001270978 RCV003362682

NM_007294.4(BRCA1):c.5513T>A (p.Val1838Glu)

SNV
Germline

Chr17:43045757

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA003690

rs_80357107

9 SubmittersRCV000077628 RCV000480633 RCV001181282 RCV001853026

NM_007294.4(BRCA1):c.5527G>C (p.Ala1843Pro)

SNV
Germline

Chr17:43045743

Likely pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA003697

rs_80357019

5 SubmittersRCV000112695 RCV000570342 RCV000781015 RCV006273087

NM_007294.4(BRCA1):c.5536C>T (p.Gln1846Ter)

SNV
Germline

Chr17:43045734

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA003704

rs_80356873

9 SubmittersRCV000112699 RCV001853027 RCV002345359

NM_007294.4(BRCA1):c.5541C>A (p.Cys1847Ter)

SNV
Germline

Chr17:43045729

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Inherited breast cancer and ovarian cancer

Reviewed By Expert Panel

CA003706

rs_397509295

8 SubmittersRCV000083222 RCV000496623 RCV006272132

NM_007294.4(BRCA1):c.5558A>G (p.Tyr1853Cys)

SNV
Germline

Chr17:43045712

Pathogenic/Likely pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Gastric cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA003714

rs_80357258

10 SubmittersRCV000112703 RCV000563885 RCV000757927 RCV002285262 RCV003162422

NM_007294.4(BRCA1):c.5559C>A (p.Tyr1853Ter)

SNV
Germline

Chr17:43045711

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA003715

rs_80357336

4 SubmittersRCV000112704 RCV003529974

NM_007294.4(BRCA1):c.5559C>G (p.Tyr1853Ter)

SNV
Germline

Chr17:43045711

Pathogenic

Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA003716

rs_80357336

5 SubmittersRCV000577814 RCV000661251 RCV005089444 RCV004948170

NM_007294.4(BRCA1):c.5561T>C (p.Leu1854Pro)

SNV
Germline

Chr17:43045709

Likely pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Familial cancer of breast
Condition: not provided
BRCA1-related cancer predisposition

Reviewed By Expert Panel

CA003718

rs_80356996

9 SubmittersRCV000083223 RCV000571563 RCV001326885 RCV002250547 RCV003493430 RCV005628797

NM_007294.4(BRCA1):c.556T>G (p.Ser186Ala)

SNV
Germline

Chr17:43097281

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA003723

rs_397509298

12 SubmittersRCV000049055 RCV000579547 RCV000662383 RCV000759562 RCV003607226

NM_007294.4(BRCA1):c.55C>T (p.Gln19Ter)

SNV
Germline

Chr17:43124042

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Breast and/or ovarian cancer
Hereditary breast ovarian cancer syndrome
Condition: not provided

Reviewed By Expert Panel

CA003737

rs_397509299

8 SubmittersRCV000256854 RCV001185214 RCV001270979 RCV001387016 RCV003477456

NM_007294.4(BRCA1):c.572T>A (p.Val191Asp)

SNV
Germline

Chr17:43097265

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Hereditary breast ovarian cancer syndrome
BRCA1-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA003744

rs_80357142

8 SubmittersRCV000112745 RCV000164187 RCV000481606 RCV000779902 RCV001343980 RCV004804026

NM_007294.4(BRCA1):c.593+4A>G

SNV
Germline

Chr17:43097240

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA003750

rs_80358154

5 SubmittersRCV000112748 RCV000217340 RCV000237043 RCV001297373

NM_007294.4(BRCA1):c.594-2A>G

SNV
Germline

Chr17:43095924

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA003755

rs_80358033

4 SubmittersRCV000577211 RCV001306993 RCV004018963 RCV003474626

NM_007294.4(BRCA1):c.612G>C (p.Leu204Phe)

SNV
Germline

Chr17:43095904

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
not specified
Inherited breast cancer and ovarian cancer
Fanconi anemia, complementation group S

Criteria Provided
Conflicting Classifications

CA003761

rs_80357394

12 SubmittersRCV000112753 RCV000129590 RCV000225767 RCV000589445 RCV001268974 RCV005237484 RCV005357420

NM_007294.4(BRCA1):c.61A>G (p.Ile21Val)

SNV
Germline

Chr17:43124036

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
not specified

Criteria Provided
Conflicting Classifications

CA003764

rs_80357406

7 SubmittersRCV000111663 RCV000131702 RCV000507259 RCV001417954 RCV004782036

NM_007294.4(BRCA1):c.655G>A (p.Asp219Asn)

SNV
Germline

Chr17:43095861

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA003776

rs_273902779

7 SubmittersRCV000112756 RCV000130801 RCV000482679 RCV001341240 RCV003607228

NM_007294.4(BRCA1):c.65T>C (p.Leu22Ser)

SNV
Germline

Chr17:43124032

Pathogenic

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Infant-type hemispheric glioma

Reviewed By Expert Panel

CA003779

rs_80357438

16 SubmittersRCV000049081 RCV000083224 RCV000162704 RCV000479212 RCV003313774

NM_007294.4(BRCA1):c.668A>G (p.Lys223Arg)

SNV
Germline

Chr17:43095848

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA003788

rs_397509306

5 SubmittersRCV000577740 RCV001853028 RCV003584538 RCV004589541

NM_007294.4(BRCA1):c.671-2A>C

SNV
Germline

Chr17:43094862

Pathogenic/Likely pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA003806

rs_80358108

6 SubmittersRCV000112767 RCV000565769 RCV001853029

NM_007294.4(BRCA1):c.692C>T (p.Thr231Met)

SNV
Germline

Chr17:43094839

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Hereditary cancer

Criteria Provided
Conflicting Classifications

CA003816

rs_80357001

14 SubmittersRCV000049098 RCV000112772 RCV000162837 RCV000586691 RCV001175367 RCV004700342

NM_007294.4(BRCA1):c.694G>A (p.Asp232Asn)

SNV
Germline

Chr17:43094837

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
not specified
BRCA1-related disorder

Criteria Provided
Conflicting Classifications

CA003819

rs_55975699

16 SubmittersRCV000112773 RCV000131176 RCV000590689 RCV001085836 RCV001175356 RCV004758635

NM_007294.4(BRCA1):c.707C>G (p.Thr236Ser)

SNV
Germline

Chr17:43094824

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA003826

rs_80356990

4 SubmittersRCV000112774 RCV000214304 RCV002513669

NM_007294.4(BRCA1):c.70T>C (p.Cys24Arg)

SNV
Germline

Chr17:43124027

Pathogenic/Likely pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA003829

rs_80357410

8 SubmittersRCV000111679 RCV000586566 RCV002362685 RCV004998175

NM_007294.4(BRCA1):c.71G>A (p.Cys24Tyr)

SNV
Germline

Chr17:43124026

Pathogenic/Likely pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA003834

rs_80357198

8 SubmittersRCV000111685 RCV000165179 RCV001378926 RCV004998176

NM_007294.4(BRCA1):c.722C>T (p.Pro241Leu)

SNV
Germline

Chr17:43094809

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA003835

rs_80357351

7 SubmittersRCV000112776 RCV000165175 RCV000586774 RCV002054877 RCV006258992

NM_007294.4(BRCA1):c.734A>T (p.Asp245Val)

SNV
Germline

Chr17:43094797

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA003841

rs_80356865

14 SubmittersRCV000049112 RCV000112778 RCV000129392 RCV000766561 RCV001201209

NM_007294.4(BRCA1):c.754C>T (p.Arg252Cys)

SNV
Germline

Chr17:43094777

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
not specified
Breast and/or ovarian cancer
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA003848

rs_273902786

10 SubmittersRCV000083225 RCV000129256 RCV000587638 RCV000735448 RCV001319342 RCV003477457

NM_007294.4(BRCA1):c.755G>A (p.Arg252His)

SNV
Germline

Chr17:43094776

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA003849

rs_80357138

11 SubmittersRCV000049120 RCV000112781 RCV000129300 RCV000283401 RCV005237485

NM_007294.4(BRCA1):c.757G>A (p.Ala253Thr)

SNV
Germline

Chr17:43094774

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
not specified
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA003852

rs_80357293

6 SubmittersRCV000112782 RCV001853030 RCV002247447 RCV002390199

NM_007294.4(BRCA1):c.763G>T (p.Glu255Ter)

SNV
Germline

Chr17:43094768

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Reviewed By Expert Panel

CA003854

rs_80357009

7 SubmittersRCV000112783 RCV000162890 RCV001381877 RCV003493431

NM_007294.4(BRCA1):c.773C>G (p.Pro258Arg)

SNV
Germline

Chr17:43094758

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA003860

rs_80357225

9 SubmittersRCV000049127 RCV000112784 RCV000216393 RCV000758847 RCV002247448

NM_007294.4(BRCA1):c.792T>G (p.Ser264Arg)

SNV
Germline

Chr17:43094739

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA003878

rs_80357214

3 SubmittersRCV000112787 RCV001853031 RCV003157388

NM_007294.4(BRCA1):c.80+1G>A

SNV
Germline

Chr17:43124016

Pathogenic/Likely pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Ovarian cancer
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA003884

rs_80358010

11 SubmittersRCV000111704 RCV000496249 RCV000677816 RCV001027049 RCV001093443 RCV005890356

NM_007294.4(BRCA1):c.800C>G (p.Ser267Ter)

SNV
Germline

Chr17:43094731

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Fanconi anemia, complementation group S

Reviewed By Expert Panel

CA003883

rs_80357392

6 SubmittersRCV000112791 RCV001381875 RCV002415507 RCV005357422

NM_007294.4(BRCA1):c.81-1G>C

SNV
Germline

Chr17:43115780

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA003906

rs_80358018

8 SubmittersRCV000258470 RCV001524169 RCV001381212

NM_007294.4(BRCA1):c.81-2A>G

SNV
Germline

Chr17:43115781

Pathogenic/Likely pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA003912

rs_397509326

8 SubmittersRCV000238783 RCV000482689 RCV000772128 RCV001384931

NM_007294.4(BRCA1):c.81-9C>G

SNV
Germline

Chr17:43115788

Pathogenic

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided

Reviewed By Expert Panel

CA003917

rs_80358127

8 SubmittersRCV000049152 RCV000111718 RCV001027266 RCV001529263

NM_007294.4(BRCA1):c.811G>C (p.Val271Leu)

SNV
Germline

Chr17:43094720

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Malignant tumor of breast
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA003907

rs_80357244

11 SubmittersRCV000112795 RCV000168486 RCV000586363 RCV000509952 RCV001353487 RCV003607229

NM_007294.4(BRCA1):c.836A>G (p.His279Arg)

SNV
Germline

Chr17:43094695

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA003930

rs_80357482

4 SubmittersRCV000112800 RCV001307845 RCV002433547

NM_007294.4(BRCA1):c.850C>T (p.Gln284Ter)

SNV
Germline

Chr17:43094681

Pathogenic

Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA003940

rs_397509330

10 SubmittersRCV000217707 RCV000238750 RCV000484760 RCV001804784

NM_007294.4(BRCA1):c.851A>G (p.Gln284Arg)

SNV
Germline

Chr17:43094680

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
not specified
Hereditary cancer-predisposing syndrome
Fanconi anemia, complementation group S
Breast-ovarian cancer, familial, susceptibility to, 1
Pancreatic cancer, susceptibility to, 4
Familial cancer of breast
Condition: not provided
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA003942

rs_80357039

10 SubmittersRCV000112804 RCV000507601 RCV000563578 RCV000764126 RCV001281716 RCV001370720

NM_007294.4(BRCA1):c.889A>C (p.Met297Leu)

SNV
Germline

Chr17:43094642

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
not specified
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA003948

rs_80357196

10 SubmittersRCV000111492 RCV000496473 RCV000775184 RCV001348061 RCV003105786

NM_007294.4(BRCA1):c.890T>A (p.Met297Lys)

SNV
Germline

Chr17:43094641

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA003951

rs_80356924

7 SubmittersRCV000111493 RCV000570460 RCV001312407

NM_007294.4(BRCA1):c.89T>A (p.Leu30Ter)

SNV
Germline

Chr17:43115771

Pathogenic

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided

Reviewed By Expert Panel

CA003955

rs_397509331

6 SubmittersRCV000049180 RCV000239109 RCV001018621 RCV003477458

NM_007294.4(BRCA1):c.900A>C (p.Glu300Asp)

SNV
Germline

Chr17:43094631

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA003957

rs_80356861

8 SubmittersRCV000049182 RCV000111506 RCV000236740 RCV000771560

NM_007294.4(BRCA1):c.926A>C (p.Lys309Thr)

SNV
Germline

Chr17:43094605

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA003969

rs_80356877

7 SubmittersRCV000111512 RCV002253207 RCV002257396 RCV003529976

NM_007294.4(BRCA1):c.928C>T (p.Gln310Ter)

SNV
Germline

Chr17:43094603

Pathogenic

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA003972

rs_397509338

10 SubmittersRCV000416963 RCV000257439 RCV000657623 RCV002371890

NM_007294.4(BRCA1):c.93C>G (p.Ile31Met)

SNV
Germline

Chr17:43115767

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
not specified
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA003976

rs_80357000

8 SubmittersRCV000111750 RCV000444279 RCV000588671 RCV000775197 RCV001501374

NM_007294.4(BRCA1):c.943A>G (p.Arg315Gly)

SNV
Germline

Chr17:43094588

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA003977

rs_80357050

4 SubmittersRCV000111514 RCV000481816 RCV001315064 RCV003157389

NM_007294.4(BRCA1):c.964G>A (p.Ala322Thr)

SNV
Germline

Chr17:43094567

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA003988

rs_80357252

9 SubmittersRCV000049205 RCV000077634 RCV000130323 RCV001588880

NM_007294.4(BRCA1):c.964G>C (p.Ala322Pro)

SNV
Germline

Chr17:43094567

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA003989

rs_80357252

12 SubmittersRCV000049206 RCV000083228 RCV000218097 RCV000483940 RCV000780997

NM_007294.4(BRCA1):c.97G>C (p.Glu33Gln)

SNV
Germline

Chr17:43115763

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Breast and/or ovarian cancer
Hereditary cancer-predisposing syndrome
Malignant tumor of breast
not specified
BRCA1-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA003993

rs_80357066

10 SubmittersRCV000049208 RCV000111754 RCV000478523 RCV000735483 RCV000775196 RCV001353807 RCV002281896 RCV004804030

NM_007294.4(BRCA1):c.993G>C (p.Arg331Ser)

SNV
Germline

Chr17:43094538

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA004003

rs_80357140

7 SubmittersRCV000111523 RCV000486788 RCV000775181 RCV001340979

NM_007294.4(BRCA1):c.994C>T (p.Arg332Trp)

SNV
Germline

Chr17:43094537

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Breast and/or ovarian cancer
not specified
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA004004

rs_80357176

12 SubmittersRCV000049215 RCV000111524 RCV000132444 RCV000236122 RCV000735449 RCV003226182 RCV003607230

NM_007294.4(BRCA1):c.995G>A (p.Arg332Gln)

SNV
Germline

Chr17:43094536

Conflicting classifications of pathogenicity

Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
BRCA1-related disorder

Criteria Provided
Conflicting Classifications

CA004005

rs_80357464

13 SubmittersRCV000049216 RCV000111525 RCV000129927 RCV000195399 RCV000780998 RCV004554694

NM_000059.4(BRCA2):c.1325C>A (p.Ser442Ter)

SNV
Germline

Chr13:32332803

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA011601

rs_80358421

3 SubmittersRCV000257449 RCV001853033

NM_000059.4(BRCA2):c.5961G>T (p.Gln1987His)

SNV
Germline

Chr13:32340316

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified

Criteria Provided
Conflicting Classifications

CA023423

rs_387907575

8 SubmittersRCV000049344 RCV000480427 RCV000561617 RCV000637728 RCV000779990

NM_000059.4(BRCA2):c.10087A>G (p.Ile3363Val)

SNV
Germline

Chr13:32398600

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA010181

rs_55881945

8 SubmittersRCV000074508 RCV000132086 RCV000206119 RCV000662584 RCV000985457

NM_000059.4(BRCA2):c.1096T>G (p.Leu366Val)

SNV
Germline

Chr13:32332574

Conflicting classifications of pathogenicity

not specified
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Hepatoblastoma
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA010792

rs_587779357

16 SubmittersRCV000074510 RCV000077249 RCV000166352 RCV000586794 RCV001087766 RCV001843473 RCV005357437

NM_000059.4(BRCA2):c.1874T>G (p.Phe625Cys)

SNV
Germline

Chr13:32333352

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified

Criteria Provided
Conflicting Classifications

CA013677

rs_587779359

4 SubmittersRCV000693983 RCV000772731 RCV006456673

NM_000059.4(BRCA2):c.2332G>A (p.Val778Ile)

SNV
Germline

Chr13:32336687

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified

Criteria Provided
Conflicting Classifications

CA014983

rs_587779360

10 SubmittersRCV000077276 RCV000129872 RCV000230477 RCV000587254

NM_000059.4(BRCA2):c.4178C>T (p.Ala1393Val)

SNV
Germline

Chr13:32338533

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Malignant tumor of breast
Condition: not provided

Criteria Provided
Conflicting Classifications

CA019676

rs_398122776

13 SubmittersRCV000074528 RCV000165267 RCV000472348 RCV000410711 RCV001358513 RCV001703970

NM_000059.4(BRCA2):c.6688A>G (p.Ile2230Val)

SNV
Germline

Chr13:32341043

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA024294

rs_587779366

8 SubmittersRCV000130830 RCV000474506 RCV000586574 RCV003997059

NM_000059.4(BRCA2):c.9286G>A (p.Glu3096Lys)

SNV
Germline

Chr13:32394718

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast
not specified

Criteria Provided
Conflicting Classifications

CA026088

rs_80359199

8 SubmittersRCV000074561 RCV000527692 RCV000580932 RCV004566914 RCV006273093

NM_007294.4(BRCA1):c.2518A>T (p.Ser840Cys)

SNV
Germline

Chr17:43093013

Conflicting classifications of pathogenicity

not specified
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA001668

rs_377475866

10 SubmittersRCV000074573 RCV000077522 RCV000195551 RCV000509761 RCV006258997

NM_007294.4(BRCA1):c.3555G>T (p.Glu1185Asp)

SNV
Germline

Chr17:43091976

Conflicting classifications of pathogenicity

not specified
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Pancreatic cancer, susceptibility to, 4
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 1
Fanconi anemia, complementation group S
Condition: not provided

Criteria Provided
Conflicting Classifications

CA002273

rs_587779368

11 SubmittersRCV000074581 RCV000077551 RCV000165151 RCV000469806 RCV000765363 RCV000766573

NM_007294.4(BRCA1):c.3619A>G (p.Lys1207Glu)

SNV
Germline

Chr17:43091912

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA002313

rs_80357455

5 SubmittersRCV000074582 RCV000195893 RCV002453379

NM_007294.4(BRCA1):c.4410A>T (p.Glu1470Asp)

SNV
Germline

Chr17:43076562

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Hereditary breast ovarian cancer syndrome
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 1
Fanconi anemia, complementation group S

Criteria Provided
Conflicting Classifications

CA002829

rs_80357075

16 SubmittersRCV000077572 RCV000131557 RCV000120257 RCV000724288 RCV001083415 RCV005357438

NM_000179.3(MSH6):c.1444C>T (p.Arg482Ter)

SNV
Germline

Chr2:47799427

Pathogenic

Lynch syndrome
Condition: not provided
Lynch syndrome 5
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Carcinoma of colon
Endometrial carcinoma
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA008614

rs_63750909

21 SubmittersRCV000074656 RCV000215386 RCV000410127 RCV000491001 RCV000524108 RCV001355905 RCV003128135 RCV004794357

NM_000179.3(MSH6):c.1474A>G (p.Met492Val)

SNV
Germline

Chr2:47799457

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Carcinoma of colon
Lynch syndrome
Lynch syndrome 5
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA008673

rs_61754783

14 SubmittersRCV000115374 RCV000212649 RCV000524111 RCV000587662 RCV001353728 RCV003997066 RCV005420526 RCV006451836

NM_000179.3(MSH6):c.1565A>G (p.Gln522Arg)

SNV
Germline

Chr2:47799548

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
not specified
Endometrial carcinoma
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA008795

rs_63751009

11 SubmittersRCV000214996 RCV000219119 RCV000556355 RCV000662803 RCV001194395 RCV003460663 RCV004786355

NM_000179.3(MSH6):c.2927G>A (p.Arg976His)

SNV
Germline

Chr2:47800910

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Endometrial carcinoma
Lynch syndrome 5
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA011105

rs_63751113

10 SubmittersRCV000218618 RCV000455514 RCV000629775 RCV002273954 RCV003460673 RCV004700372 RCV005600635

NM_000179.3(MSH6):c.3226C>T (p.Arg1076Cys)

SNV
Germline

Chr2:47803473

Likely pathogenic

Lynch syndrome 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
Hereditary nonpolyposis colon cancer
Malignant tumor of breast
Breast carcinoma
Endometrial carcinoma
Breast and/or ovarian cancer
Gastric cancer
Lynch syndrome
Inherited prostate cancer
Inherited MMR deficiency (Lynch syndrome)
MSH6-related disorder
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA012063

rs_63750617

37 SubmittersRCV000074823 RCV000162445 RCV000254700 RCV000524159 RCV000709742 RCV000780464 RCV001356266 RCV001564011 RCV003466947 RCV003492400 RCV003162475 RCV003997086 RCV004584185 RCV004808573 RCV004739334 RCV006451837

NM_000179.3(MSH6):c.3563G>A (p.Ser1188Asn)

SNV
Germline

Chr2:47805624

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
Endometrial carcinoma
Lynch syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA013469

rs_587779272

11 SubmittersRCV000478227 RCV000582224 RCV000685790 RCV003450973 RCV004566921 RCV004804043 RCV005638417

NM_000179.3(MSH6):c.73G>T (p.Ala25Ser)

SNV
Germline

Chr2:47783306

Conflicting classifications of pathogenicity

Lynch syndrome
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Mismatch repair cancer syndrome 1
Endometrial carcinoma
Lynch syndrome 5
Hereditary nonpolyposis colorectal neoplasms
Hereditary breast ovarian cancer syndrome
MSH6-related disorder
Mismatch repair cancer syndrome 3
Endometrial carcinoma
Lynch syndrome 5
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA016371

rs_267608026

21 SubmittersRCV000075031 RCV000115442 RCV000417385 RCV000524214 RCV000765674 RCV001082180 RCV003482130 RCV004528274 RCV005394306 RCV005420539

NM_000249.4(MLH1):c.1013A>G (p.Asn338Ser)

SNV
Germline

Chr3:37020438

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Colorectal cancer, non-polyposis
not specified
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Muir-Torré syndrome
Mismatch repair cancer syndrome 1
Colorectal cancer, hereditary nonpolyposis, type 2
Malignant tumor of breast
Hereditary breast ovarian cancer syndrome
Lynch syndrome
MLH1-related disorder
Colorectal cancer, hereditary nonpolyposis, type 2
Hereditary cancer

Criteria Provided
Conflicting Classifications

CA004051

rs_63751467

20 SubmittersRCV000128912 RCV000148621 RCV000220791 RCV000524219 RCV000656860 RCV000764485 RCV001356843 RCV003483462 RCV003997106 RCV004748551 RCV005246613 RCV004700374

NM_000249.4(MLH1):c.1153C>T (p.Arg385Cys)

SNV
Germline

Chr3:37025751

Conflicting classifications of pathogenicity

Lynch syndrome
not specified
Hereditary cancer-predisposing syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Mismatch repair cancer syndrome 1
Muir-Torré syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
Hereditary breast ovarian cancer syndrome
Breast and/or ovarian cancer
Hereditary cancer
Childhood neoplasm

Criteria Provided
Conflicting Classifications

CA004503

rs_63750760

16 SubmittersRCV000075124 RCV000202088 RCV000217569 RCV000490290 RCV000524225 RCV000656862 RCV000764489 RCV001030628 RCV003149731 RCV003492407 RCV005621869

NM_000249.4(MLH1):c.1744C>G (p.Leu582Val)

SNV
Germline

Chr3:37047531

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Hereditary breast ovarian cancer syndrome
not specified
Colorectal cancer, hereditary nonpolyposis, type 2
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA006690

rs_63751713

7 SubmittersRCV000571505 RCV000627697 RCV001030630 RCV001193957 RCV004019101 RCV003997117

NM_000249.4(MLH1):c.1897-2A>G

SNV
Germline

Chr3:37048515

Likely pathogenic

Lynch syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Colorectal cancer, hereditary nonpolyposis, type 2
Hereditary cancer-predisposing syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
Mismatch repair cancer syndrome 1
Muir-Torré syndrome
not specified
Familial cancer of breast
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA007469

rs_267607871

14 SubmittersRCV000075411 RCV000524638 RCV000487325 RCV000662785 RCV000570210 RCV000763104 RCV001844029 RCV005357463 RCV005638419

NM_000249.4(MLH1):c.1907T>C (p.Leu636Pro)

SNV
Germline

Chr3:37048527

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA007557

rs_63750825

4 SubmittersRCV001202105 RCV002408585 RCV003451080 RCV004689444

NM_000249.4(MLH1):c.191A>G (p.Asn64Ser)

SNV
Germline

Chr3:36996693

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome 1
Lynch syndrome
Muir-Torré syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
Hereditary breast ovarian cancer syndrome
MLH1-related disorder
Mismatch repair cancer syndrome 1
Muir-Torré syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
not specified

Criteria Provided
Conflicting Classifications

CA007619

rs_63750952

19 SubmittersRCV000075426 RCV000217492 RCV000513562 RCV000490571 RCV000708912 RCV001262297 RCV002288569 RCV004760365 RCV004748556 RCV005025123 RCV005055564

NM_000249.4(MLH1):c.283T>G (p.Ser95Ala)

SNV
Germline

Chr3:37001030

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
Hereditary nonpolyposis colorectal neoplasms
Hereditary breast ovarian cancer syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA009506

rs_63751070

11 SubmittersRCV000115478 RCV000215988 RCV000409260 RCV000555517 RCV001030562 RCV004806051

NM_000249.4(MLH1):c.649C>T (p.Arg217Cys)

SNV
Germline

Chr3:37012071

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Colorectal cancer, hereditary nonpolyposis, type 2
Hereditary nonpolyposis colorectal neoplasms
Hereditary breast ovarian cancer syndrome
Lynch syndrome 1
Carcinoma of colon
MLH1-related disorder
Hereditary nonpolyposis colon cancer

Criteria Provided
Conflicting Classifications

CA011361

rs_4986984

17 SubmittersRCV000115483 RCV000212524 RCV000590255 RCV000987154 RCV001079587 RCV001030563 RCV001093666 RCV001354844 RCV003944989 RCV006449981

NM_000249.4(MLH1):c.778C>T (p.Leu260Phe)

SNV
Germline

Chr3:37014532

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Muir-Torré syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA012012

rs_63750642

9 SubmittersRCV000130511 RCV000479043 RCV000705556 RCV004806052 RCV005364964 RCV004566932 RCV004786356

NM_000249.4(MLH1):c.790C>T (p.His264Tyr)

SNV
Germline

Chr3:37014544

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
not specified
Colorectal cancer, hereditary nonpolyposis, type 2
Lynch syndrome
Hereditary breast ovarian cancer syndrome
MLH1-related disorder

Criteria Provided
Conflicting Classifications

CA012242

rs_63751597

11 SubmittersRCV000478542 RCV000530665 RCV000562121 RCV001093687 RCV001193965 RCV003485534 RCV003997138 RCV003483463 RCV004748559

NM_000249.4(MLH1):c.794G>A (p.Arg265His)

SNV
Germline

Chr3:37017509

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Colorectal cancer, hereditary nonpolyposis, type 2
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Hereditary nonpolyposis colon cancer
Hereditary breast ovarian cancer syndrome
MLH1-related disorder
Mismatch repair cancer syndrome 1
Colorectal cancer, hereditary nonpolyposis, type 2
Muir-Torré syndrome

Criteria Provided
Conflicting Classifications

CA012404

rs_63751448

18 SubmittersRCV000131125 RCV000212526 RCV000410210 RCV000524318 RCV000656858 RCV001253793 RCV001374504 RCV004748560 RCV005025124

NM_000251.3(MSH2):c.1004C>T (p.Thr335Ile)

SNV
Germline

Chr2:47416357

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA016806

rs_63750602

4 SubmittersRCV000236871 RCV001344528 RCV005401323 RCV005638420

NM_000251.3(MSH2):c.1045C>G (p.Pro349Ala)

SNV
Germline/somatic

Chr2:47416398

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Papillary renal cell carcinoma type 1
Condition: not provided
Lynch syndrome 1
Mismatch repair cancer syndrome 1
Muir-Torré syndrome
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms
not specified
Hereditary nonpolyposis colon cancer
Hereditary breast ovarian cancer syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA016975

rs_267607939

19 SubmittersRCV000128932 RCV000148635 RCV000588936 RCV000764423 RCV000986664 RCV001085377 RCV001844030 RCV002279934 RCV004760366 RCV005357481

NM_000251.3(MSH2):c.118G>A (p.Gly40Ser)

SNV
Germline

Chr2:47403309

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
not specified
Hereditary breast ovarian cancer syndrome
Lynch syndrome 1
Lynch syndrome
MSH2-related disorder

Criteria Provided
Conflicting Classifications

CA017443

rs_63751260

9 SubmittersRCV000236371 RCV000491838 RCV000627704 RCV000781559 RCV001030704 RCV003466962 RCV003997143 RCV004528275

NM_000251.3(MSH2):c.14C>A (p.Pro5Gln)

SNV
Germline

Chr2:47403205

Conflicting classifications of pathogenicity

Lynch syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms
not specified
Hereditary breast ovarian cancer syndrome
Malignant tumor of breast
Hereditary nonpolyposis colon cancer
Ovarian cancer

Criteria Provided
Conflicting Classifications

CA018457

rs_56170584

16 SubmittersRCV000076178 RCV000165088 RCV000486935 RCV000412350 RCV000524345 RCV000781557 RCV001030703 RCV001354505 RCV002513806 RCV003153355

NM_000251.3(MSH2):c.1547G>T (p.Ser516Ile)

SNV
Germline

Chr2:47466694

Conflicting classifications of pathogenicity

Lynch syndrome 1
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
not specified
Lynch syndrome
Lynch syndrome 1
Mismatch repair cancer syndrome 2
Muir-Torré syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA018578

rs_373564353

12 SubmittersRCV000409878 RCV000485690 RCV000524347 RCV001012071 RCV001553592 RCV003997149 RCV005364969 RCV004764761

NM_000251.3(MSH2):c.2064G>A (p.Met688Ile)

SNV
Germline

Chr2:47476425

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms
Hereditary breast ovarian cancer syndrome
not specified
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA019942

rs_63750790

15 SubmittersRCV000165796 RCV000410248 RCV000524376 RCV001030713 RCV001260344 RCV001588898 RCV003997157

NM_000251.3(MSH2):c.2533A>G (p.Lys845Glu)

SNV
Germline

Chr2:47480770

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Hereditary breast ovarian cancer syndrome
not specified
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA020689

rs_63750571

11 SubmittersRCV000215108 RCV000524393 RCV000662762 RCV001030485 RCV001174808 RCV003997164

NM_000251.3(MSH2):c.274C>G (p.Leu92Val)

SNV
Germline

Chr2:47408463

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms
Mismatch repair cancer syndrome 1
Condition: not provided
not specified
Lynch syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA020916

rs_587779154

15 SubmittersRCV000221964 RCV000412138 RCV000552261 RCV001196697 RCV001353838 RCV003387753 RCV003997169 RCV006261697

NM_000535.7(PMS2):c.2249G>A (p.Gly750Asp)

SNV
Germline

Chr7:5978622

Conflicting classifications of pathogenicity

Endometrial carcinoma
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4
Hereditary nonpolyposis colon cancer
PMS2-related disorder
Hereditary breast ovarian cancer syndrome
Inherited polyposis and early onset colorectal cancer - germline testing

Criteria Provided
Conflicting Classifications

CA011133

rs_587779337

17 SubmittersRCV000076849 RCV000115679 RCV000212868 RCV000524463 RCV001253062 RCV002271400 RCV003398663 RCV004764762 RCV006277704

NM_000535.7(PMS2):c.903G>T (p.Lys301Asn)

SNV
Germline

Chr7:5995534

Likely pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4
Lynch syndrome 1
Hereditary breast ovarian cancer syndrome
Lynch syndrome 4
Mismatch repair cancer syndrome 1
Inherited MMR deficiency (Lynch syndrome)

Reviewed By Expert Panel

CA013203

rs_267608153

16 SubmittersRCV000076896 RCV000215563 RCV000255696 RCV000524483 RCV000778110 RCV001804828 RCV004689447 RCV005862971 RCV005237512

NM_000059.4(BRCA2):c.5244C>A (p.Ser1748Arg)

SNV
Germline

Chr13:32339599

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
not specified
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA021843

rs_398122528

9 SubmittersRCV000076926 RCV000160084 RCV000528928 RCV000569062 RCV000656796

NM_000059.4(BRCA2):c.5278T>G (p.Ser1760Ala)

SNV
Germline

Chr13:32339633

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome
Condition: not provided
Malignant tumor of breast

Criteria Provided
Conflicting Classifications

CA021926

rs_28897735

12 SubmittersRCV000076927 RCV000131676 RCV000440605 RCV000476848 RCV000985542 RCV001353578

NM_000059.4(BRCA2):c.5438T>C (p.Leu1813Pro)

SNV
Germline

Chr13:32339793

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA022330

rs_398122532

8 SubmittersRCV000076931 RCV000160090 RCV000810148 RCV001024101 RCV001192447 RCV004804046

NM_000059.4(BRCA2):c.5495C>A (p.Ser1832Tyr)

SNV
Germline

Chr13:32339850

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Malignant tumor of breast

Criteria Provided
Conflicting Classifications

CA022441

rs_138489917

11 SubmittersRCV000076932 RCV000160229 RCV000132060 RCV000588125 RCV001079414 RCV001353390

NM_000059.4(BRCA2):c.5518G>C (p.Gly1840Arg)

SNV
Germline

Chr13:32339873

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA022489

rs_398122533

7 SubmittersRCV000076933 RCV000464863 RCV000478840 RCV000510044

NM_000059.4(BRCA2):c.5539G>A (p.Ala1847Thr)

SNV
Germline

Chr13:32339894

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA022516

rs_398122534

4 SubmittersRCV000076934 RCV002513807 RCV002345388

NM_000059.4(BRCA2):c.5636A>G (p.Glu1879Gly)

SNV
Germline

Chr13:32339991

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
not specified

Criteria Provided
Conflicting Classifications

CA022789

rs_398122536

9 SubmittersRCV000076936 RCV000200011 RCV000219353 RCV000571155 RCV001193954

NM_000059.4(BRCA2):c.5649A>C (p.Lys1883Asn)

SNV
Germline

Chr13:32340004

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome
Malignant tumor of breast
Condition: not provided

Criteria Provided
Conflicting Classifications

CA022832

rs_80358787

11 SubmittersRCV000076938 RCV000131541 RCV000502274 RCV000637343 RCV001353577 RCV001582563

NM_000059.4(BRCA2):c.5650A>G (p.Ile1884Val)

SNV
Germline

Chr13:32340005

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA022846

rs_398122538

6 SubmittersRCV000076939 RCV000132469 RCV000474428

NM_000059.4(BRCA2):c.5813G>C (p.Gly1938Ala)

SNV
Germline

Chr13:32340168

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast and/or ovarian cancer
BRCA2-related disorder

Criteria Provided
Conflicting Classifications

CA023264

rs_41293499

13 SubmittersRCV000076942 RCV000129261 RCV000168583 RCV000257904 RCV000657051 RCV001798275 RCV004732647

NM_000059.4(BRCA2):c.5893C>T (p.Leu1965Phe)

SNV
Germline

Chr13:32340248

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
not specified
BRCA2-related disorder
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA023343

rs_398122542

12 SubmittersRCV000076944 RCV000215394 RCV000637433 RCV000657041 RCV003155065 RCV004732648 RCV004804047

NM_000059.4(BRCA2):c.5921C>T (p.Thr1974Ile)

SNV
Germline

Chr13:32340276

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA023368

rs_55730620

11 SubmittersRCV000076945 RCV000166046 RCV000231524 RCV000436824 RCV001697138

NM_000059.4(BRCA2):c.5962G>A (p.Val1988Ile)

SNV
Germline

Chr13:32340317

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
8 conditions
Condition: not provided

Criteria Provided
Conflicting Classifications

CA023425

rs_28897739

6 SubmittersRCV000076947 RCV000477598 RCV000567451 RCV000763891 RCV006252681

NM_000059.4(BRCA2):c.5969A>C (p.Asp1990Ala)

SNV
Germline

Chr13:32340324

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
not specified
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA023434

rs_148618542

8 SubmittersRCV000076948 RCV000160188 RCV000223167 RCV000460454 RCV000589650

NM_000059.4(BRCA2):c.59A>G (p.Asn20Ser)

SNV
Germline

Chr13:32316519

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Familial cancer of breast
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA023490

rs_398122544

8 SubmittersRCV000076950 RCV000574036 RCV000690786 RCV000758917 RCV003460721 RCV004804048

NM_000059.4(BRCA2):c.608C>A (p.Thr203Asn)

SNV
Germline

Chr13:32326590

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Fanconi anemia complementation group D1
Familial colorectal cancer type X

Criteria Provided
Conflicting Classifications

CA023638

rs_398122547

8 SubmittersRCV000076954 RCV000471187 RCV000509879 RCV000758918 RCV001113535 RCV005357503

NM_000059.4(BRCA2):c.6098T>A (p.Ile2033Lys)

SNV
Germline

Chr13:32340453

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA023648

rs_398122548

7 SubmittersRCV000076955 RCV000217624 RCV000469876 RCV001526977 RCV004760369

NM_000059.4(BRCA2):c.6152A>G (p.Asn2051Ser)

SNV
Germline

Chr13:32340507

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA023700

rs_398122549

8 SubmittersRCV000076956 RCV000222229 RCV000203759 RCV005623289

NM_000059.4(BRCA2):c.6225A>C (p.Lys2075Asn)

SNV
Germline

Chr13:32340580

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
not specified

Criteria Provided
Conflicting Classifications

CA023772

rs_80358863

11 SubmittersRCV000076957 RCV000130739 RCV000255403 RCV000558324 RCV001194389

NM_000059.4(BRCA2):c.6271A>C (p.Ser2091Arg)

SNV
Germline

Chr13:32340626

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
Condition: not provided
Inherited breast cancer and ovarian cancer

Criteria Provided
Conflicting Classifications

CA023804

rs_398122550

11 SubmittersRCV000076958 RCV000129368 RCV000227893 RCV000438559 RCV000985562 RCV004691747

NM_000059.4(BRCA2):c.6295A>G (p.Arg2099Gly)

SNV
Germline

Chr13:32340650

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
Condition: not provided
BRCA2-related disorder

Criteria Provided
Conflicting Classifications

CA023833

rs_398122551

10 SubmittersRCV000076959 RCV000222158 RCV000695728 RCV001199915 RCV001800378 RCV004528279

NM_000059.4(BRCA2):c.6323G>T (p.Arg2108Leu)

SNV
Germline

Chr13:32340678

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA023908

rs_35029074

10 SubmittersRCV000076961 RCV000168279 RCV000213911 RCV000423308 RCV001703980

NM_000059.4(BRCA2):c.6383A>C (p.Lys2128Thr)

SNV
Germline

Chr13:32340738

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA023967

rs_398122554

6 SubmittersRCV000076963 RCV000772760 RCV002477220 RCV002513808

NM_000059.4(BRCA2):c.6475C>G (p.Gln2159Glu)

SNV
Germline

Chr13:32340830

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Hereditary breast ovarian cancer syndrome
BRCA2-related disorder

Criteria Provided
Conflicting Classifications

CA024092

rs_398122558

10 SubmittersRCV000076967 RCV000166819 RCV000160111 RCV000588031 RCV001083727 RCV004732649

NM_000059.4(BRCA2):c.6487C>T (p.Gln2163Ter)

SNV
Germline

Chr13:32340842

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Familial cancer of breast
Inherited breast cancer and ovarian cancer

Reviewed By Expert Panel

CA024103

rs_398122559

11 SubmittersRCV000076968 RCV000483318 RCV000579895 RCV001192504 RCV003460722 RCV006445493

NM_000059.4(BRCA2):c.6540G>C (p.Leu2180Phe)

SNV
Germline

Chr13:32340895

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome
Fanconi anemia complementation group D1
Condition: not provided
Inherited breast cancer and ovarian cancer

Criteria Provided
Conflicting Classifications

CA024153

rs_398122560

14 SubmittersRCV000076969 RCV000131800 RCV000160235 RCV000234409 RCV001109883 RCV003477474 RCV006605219

NM_000059.4(BRCA2):c.6586A>T (p.Lys2196Ter)

SNV
Germline

Chr13:32340941

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA024190

rs_398122561

3 SubmittersRCV000076970 RCV003529979

NM_000059.4(BRCA2):c.6806T>C (p.Ile2269Thr)

SNV
Germline

Chr13:32341161

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA024420

rs_398122564

9 SubmittersRCV000076973 RCV000230132 RCV000568704 RCV001527034 RCV001555262

NM_000059.4(BRCA2):c.6863A>T (p.Asn2288Ile)

SNV
Germline

Chr13:32344579

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Familial cancer of breast
Condition: not provided

Criteria Provided
Conflicting Classifications

CA024525

rs_398122569

6 SubmittersRCV000076979 RCV000132443 RCV000821916 RCV003460723 RCV005229884

NM_000059.4(BRCA2):c.694T>C (p.Tyr232His)

SNV
Germline

Chr13:32330931

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Familial cancer of breast
not specified
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA024616

rs_398122572

11 SubmittersRCV000076982 RCV000129345 RCV000590532 RCV000637516 RCV003460724 RCV003230397 RCV004804049

NM_000059.4(BRCA2):c.6971A>G (p.His2324Arg)

SNV
Germline

Chr13:32346860

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA024657

rs_398122574

5 SubmittersRCV000076984 RCV000197341 RCV001025862

NM_000059.4(BRCA2):c.7021C>T (p.Arg2341Cys)

SNV
Germline

Chr13:32354874

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Breast and/or ovarian cancer
not specified
Familial cancer of breast
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA024759

rs_41293505

12 SubmittersRCV000076986 RCV000130453 RCV000160126 RCV000227614 RCV000735598 RCV000781128 RCV004566938 RCV004804050

NM_000059.4(BRCA2):c.709G>A (p.Asp237Asn)

SNV
Germline

Chr13:32330946

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA024869

rs_398122575

9 SubmittersRCV000076987 RCV000562449 RCV000709294 RCV003317080 RCV004804051

NM_000059.4(BRCA2):c.7222C>T (p.Pro2408Ser)

SNV
Germline

Chr13:32355075

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Familial cancer of breast
BRCA2-related cancer predisposition
BRCA2-related disorder

Criteria Provided
Conflicting Classifications

CA024971

rs_398122577

9 SubmittersRCV000076989 RCV000214648 RCV000697809 RCV001588900 RCV002288577 RCV004804052 RCV004732650

NM_000059.4(BRCA2):c.7354A>G (p.Asn2452Asp)

SNV
Germline

Chr13:32355207

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
not specified

Criteria Provided
Conflicting Classifications

CA025040

rs_398122580

7 SubmittersRCV000076992 RCV000213983 RCV000587585 RCV000685760 RCV005237515

NM_000059.4(BRCA2):c.7355A>G (p.Asn2452Ser)

SNV
Germline

Chr13:32355208

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA025041

rs_398122581

4 SubmittersRCV000076993 RCV000572915 RCV001230752 RCV002509201

NM_000059.4(BRCA2):c.7436-10T>C

SNV
Germline

Chr13:32356418

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
Breast and/or ovarian cancer

Criteria Provided
Conflicting Classifications

CA025081

rs_398122582

8 SubmittersRCV000076995 RCV000470480 RCV000608246 RCV001190657 RCV001284107 RCV003149760

NM_000059.4(BRCA2):c.7436-9C>A

SNV
Germline

Chr13:32356419

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA025088

rs_398122584

4 SubmittersRCV000076997 RCV001360239 RCV001525255

NM_000059.4(BRCA2):c.7585G>A (p.Gly2529Ser)

SNV
Germline

Chr13:32356577

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
Condition: not provided
Familial cancer of breast
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA025163

rs_398122585

11 SubmittersRCV000077000 RCV000218797 RCV000637466 RCV000780001 RCV001550351 RCV003460725 RCV005357504

NM_000059.4(BRCA2):c.7616A>G (p.Gln2539Arg)

SNV
Germline

Chr13:32356608

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA025181

rs_144728108

9 SubmittersRCV000077002 RCV000195784 RCV000509684 RCV003321499 RCV004696691 RCV005357505

NM_000059.4(BRCA2):c.7637C>T (p.Ser2546Phe)

SNV
Germline

Chr13:32357761

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
not specified
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA025205

rs_398122586

10 SubmittersRCV000077003 RCV000130695 RCV000199472 RCV000256073 RCV000781115 RCV003474660

NM_000059.4(BRCA2):c.7648A>G (p.Ile2550Val)

SNV
Germline

Chr13:32357772

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA025211

rs_41293507

5 SubmittersRCV000077004 RCV000559770 RCV000776374 RCV003128579

NM_000059.4(BRCA2):c.7651A>C (p.Lys2551Gln)

SNV
Germline

Chr13:32357775

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome
Condition: not provided
Familial cancer of breast
BRCA2-related cancer predisposition
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA025213

rs_398122587

10 SubmittersRCV000077005 RCV000132265 RCV000160246 RCV000476389 RCV000589630 RCV003607231 RCV004804053 RCV005357506

NM_000059.4(BRCA2):c.7733G>A (p.Gly2578Glu)

SNV
Germline

Chr13:32357857

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA025249

rs_398122590

3 SubmittersRCV000077008 RCV000122931 RCV000217106

NM_000059.4(BRCA2):c.7786G>A (p.Gly2596Arg)

SNV
Germline

Chr13:32357910

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast and/or ovarian cancer
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA025274

rs_398122591

11 SubmittersRCV000077009 RCV000160142 RCV000197789 RCV000509715 RCV000770731 RCV003460727

NM_000059.4(BRCA2):c.7819A>G (p.Thr2607Ala)

SNV
Germline

Chr13:32362536

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA025299

rs_80359008

4 SubmittersRCV000077011 RCV000566070 RCV002514363 RCV003474661

NM_000059.4(BRCA2):c.7928C>T (p.Ala2643Val)

SNV
Germline

Chr13:32362645

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA025339

rs_80359018

10 SubmittersRCV000077015 RCV000548871 RCV000589932 RCV000575971 RCV004804055

NM_000059.4(BRCA2):c.8078T>A (p.Ile2693Lys)

SNV
Germline

Chr13:32363280

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA025441

rs_398122595

3 SubmittersRCV000077017 RCV001027143 RCV001314689

NM_000059.4(BRCA2):c.8125A>G (p.Ser2709Gly)

SNV
Germline

Chr13:32363327

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Breast and/or ovarian cancer
not specified
BRCA2-related disorder

Criteria Provided
Conflicting Classifications

CA025463

rs_398122596

9 SubmittersRCV000077018 RCV000198708 RCV000235393 RCV000569993 RCV000768638 RCV000779969 RCV004537300

NM_000059.4(BRCA2):c.8128A>G (p.Ser2710Gly)

SNV
Germline

Chr13:32363330

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA025464

rs_398122597

8 SubmittersRCV000077019 RCV000219126 RCV000474416 RCV000656623

NM_000059.4(BRCA2):c.814A>G (p.Asn272Asp)

SNV
Germline

Chr13:32332292

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA025472

rs_398122598

6 SubmittersRCV000077020 RCV000486677 RCV000529674 RCV000774908

NM_000059.4(BRCA2):c.8285C>T (p.Pro2762Leu)

SNV
Germline

Chr13:32363487

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA025549

rs_398122600

3 SubmittersRCV000077022 RCV000129761 RCV005089525

NC_000013.11:g.32363535T>A

SNV
Germline

Chr13:32363535

Likely pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome

Criteria Provided
Single Submitter

CA025580

rs_398122602

2 SubmittersRCV000077024 RCV004017387

NM_000059.4(BRCA2):c.8366A>G (p.Tyr2789Cys)

SNV
Germline

Chr13:32370436

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
Condition: not provided
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA025606

rs_398122603

10 SubmittersRCV000077025 RCV000214265 RCV000206251 RCV001553615 RCV001800379 RCV004804056

NM_000059.4(BRCA2):c.8386C>T (p.Pro2796Ser)

SNV
Germline

Chr13:32370456

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast and/or ovarian cancer
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA025620

rs_146120136

12 SubmittersRCV000077028 RCV000130261 RCV000226735 RCV000586491 RCV000735611 RCV005357508

NM_000059.4(BRCA2):c.8405C>G (p.Pro2802Arg)

SNV
Germline

Chr13:32370475

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA025628

rs_398122606

3 SubmittersRCV000077030 RCV003343631 RCV003529980

NM_000059.4(BRCA2):c.8581A>T (p.Arg2861Ter)

SNV
Germline

Chr13:32371049

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Familial cancer of breast
Familial colorectal cancer type X

Reviewed By Expert Panel

CA025722

rs_398122608

13 SubmittersRCV000077032 RCV000130528 RCV000657687 RCV000699930 RCV003460729 RCV005357509

NM_000059.4(BRCA2):c.9127G>T (p.Glu3043Ter)

SNV
Germline

Chr13:32380016

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Reviewed By Expert Panel

CA026001

rs_398122610

11 SubmittersRCV000077034 RCV000130444 RCV001380996 RCV001557541

NM_000059.4(BRCA2):c.9205T>G (p.Cys3069Gly)

SNV
Germline

Chr13:32380094

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified

Criteria Provided
Conflicting Classifications

CA026031

rs_398122611

6 SubmittersRCV000077035 RCV000167063 RCV000700869 RCV002465509

NM_000059.4(BRCA2):c.9257-8C>T

SNV
Germline

Chr13:32394681

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome
Breast and/or ovarian cancer
8 conditions

Criteria Provided
Conflicting Classifications

CA026068

rs_11571819

13 SubmittersRCV000077038 RCV000759690 RCV000773110 RCV000780036 RCV001088131 RCV003492429 RCV005394333

NM_000059.4(BRCA2):c.9275A>T (p.Tyr3092Phe)

SNV
Germline

Chr13:32394707

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome
Condition: not provided
8 conditions
Familial cancer of breast
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA026082

rs_80359195

11 SubmittersRCV000077039 RCV000167271 RCV000483136 RCV000560384 RCV000767170 RCV002490671 RCV003474663 RCV004804057

NM_000059.4(BRCA2):c.9391T>C (p.Ser3131Pro)

SNV
Germline

Chr13:32394823

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome
Condition: not provided
Familial cancer of breast
BRCA2-related disorder
8 conditions
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA026134

rs_398122613

12 SubmittersRCV000077041 RCV000218620 RCV000506488 RCV001219085 RCV002466422 RCV004566939 RCV004732651 RCV005007989 RCV005357510

NM_000059.4(BRCA2):c.9407T>C (p.Leu3136Pro)

SNV
Germline

Chr13:32394839

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA026144

rs_398122614

5 SubmittersRCV000077042 RCV000637816 RCV001019282

NM_000059.4(BRCA2):c.9496G>A (p.Val3166Ile)

SNV
Germline

Chr13:32394928

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA026177

rs_398122615

8 SubmittersRCV000077043 RCV000131348 RCV000543406 RCV000985629 RCV004804058

NM_000059.4(BRCA2):c.9573G>A (p.Trp3191Ter)

SNV
Germline

Chr13:32396969

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA026218

rs_398122617

4 SubmittersRCV000077046 RCV000509925 RCV001854349

NM_000059.4(BRCA2):c.9698G>A (p.Cys3233Tyr)

SNV
Germline

Chr13:32398211

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA026271

rs_398122620

8 SubmittersRCV000077049 RCV000509832 RCV001041364 RCV001284598

NM_000059.4(BRCA2):c.9857T>A (p.Ile3286Asn)

SNV
Germline

Chr13:32398370

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA026315

rs_398122624

7 SubmittersRCV000077053 RCV000164700 RCV000215513 RCV000537252 RCV003460730

NM_007294.4(BRCA1):c.1093A>T (p.Arg365Ter)

SNV
Germline

Chr17:43094438

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA000732

rs_398122627

4 SubmittersRCV000077057 RCV000496935 RCV002444545

NM_007294.4(BRCA1):c.1202G>C (p.Gly401Ala)

SNV
Germline

Chr17:43094329

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
not specified

Criteria Provided
Conflicting Classifications

CA000792

rs_397507184

9 SubmittersRCV000077058 RCV000131360 RCV000759491 RCV001215282 RCV006268108

NM_007294.4(BRCA1):c.1256T>G (p.Val419Gly)

SNV
Germline

Chr17:43094275

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified

Criteria Provided
Conflicting Classifications

CA000828

rs_398122628

8 SubmittersRCV000077059 RCV000225876 RCV001010363 RCV003226188

NM_007294.4(BRCA1):c.1327A>T (p.Lys443Ter)

SNV
Germline

Chr17:43094204

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Breast neoplasm
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA000866

rs_398122630

7 SubmittersRCV000077062 RCV000413037 RCV000709489 RCV002381393

NM_007294.4(BRCA1):c.134+2T>C

SNV
Germline

Chr17:43115724

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA000882

rs_80358131

10 SubmittersRCV000077064 RCV000218784 RCV000466215 RCV004998199

NM_007294.4(BRCA1):c.134+5G>A

SNV
Germline

Chr17:43115721

Pathogenic/Likely pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 1
Familial cancer of breast
Fanconi anemia, complementation group S

Criteria Provided
Multiple Submitters
No Conflicts

CA000886

rs_80358038

7 SubmittersRCV000077065 RCV001010944 RCV001221249 RCV003477477 RCV005394334

NM_007294.4(BRCA1):c.1379T>G (p.Ile460Arg)

SNV
Germline

Chr17:43094152

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
not specified
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA000915

rs_398122634

6 SubmittersRCV000077068 RCV000637638 RCV001731363 RCV003157391

NM_007294.4(BRCA1):c.1397G>A (p.Arg466Gln)

SNV
Germline

Chr17:43094134

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
not specified
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Malignant tumor of breast
Condition: not provided

Criteria Provided
Conflicting Classifications

CA000940

rs_199540030

15 SubmittersRCV000077069 RCV000159868 RCV000132262 RCV000469966 RCV001354036 RCV001509546

NM_007294.4(BRCA1):c.141C>A (p.Cys47Ter)

SNV
Germline

Chr17:43106527

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA000957

rs_398122635

4 SubmittersRCV000077070 RCV000801060

NM_007294.4(BRCA1):c.154C>A (p.Leu52Ile)

SNV
Germline

Chr17:43106514

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified
BRCA1-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA001037

rs_80357084

8 SubmittersRCV000077073 RCV000168070 RCV000214796 RCV001260362 RCV004804059

NM_007294.4(BRCA1):c.1607C>G (p.Thr536Ser)

SNV
Germline

Chr17:43093924

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA001065

rs_398122638

5 SubmittersRCV000077074 RCV000216485 RCV001242379 RCV006277705

NM_007294.4(BRCA1):c.1609A>G (p.Asn537Asp)

SNV
Germline

Chr17:43093922

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA001067

rs_398122639

11 SubmittersRCV000077075 RCV000131971 RCV000232941 RCV000605647 RCV001087842

NM_007294.4(BRCA1):c.1747A>G (p.Lys583Glu)

SNV
Germline

Chr17:43093784

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
not specified
Breast and/or ovarian cancer
BRCA1-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA001144

rs_80356928

10 SubmittersRCV000077079 RCV000131990 RCV000168342 RCV000485566 RCV001192554 RCV003492430 RCV004804060

NM_007294.4(BRCA1):c.1799T>G (p.Ile600Ser)

SNV
Germline

Chr17:43093732

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA001167

rs_398122643

3 SubmittersRCV000077081 RCV003157393 RCV005089529

NM_007294.4(BRCA1):c.1828A>G (p.Arg610Gly)

SNV
Germline

Chr17:43093703

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA001190

rs_398122644

5 SubmittersRCV000077082 RCV003157394 RCV002513810 RCV004998200

NM_007294.4(BRCA1):c.1844C>T (p.Ser615Phe)

SNV
Germline

Chr17:43093687

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA001201

rs_398122645

4 SubmittersRCV000077083 RCV001065293 RCV002408603

NM_007294.4(BRCA1):c.1898C>T (p.Pro633Leu)

SNV
Germline

Chr17:43093633

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
not specified
BRCA1-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA001238

rs_398122647

10 SubmittersRCV000077085 RCV000129651 RCV000509321 RCV000637600 RCV001268975 RCV004804061

NM_007294.4(BRCA1):c.1907G>A (p.Cys636Tyr)

SNV
Germline

Chr17:43093624

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
not specified
BRCA1-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA001248

rs_398122649

11 SubmittersRCV000077087 RCV000162827 RCV000210899 RCV001703981 RCV003987349 RCV004804062

NM_007294.4(BRCA1):c.2123C>T (p.Ser708Phe)

SNV
Germline

Chr17:43093408

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
not specified
BRCA1-related disorder

Criteria Provided
Conflicting Classifications

CA001414

rs_80357182

11 SubmittersRCV000077093 RCV000131616 RCV000205141 RCV000767161 RCV003317081 RCV004554697

NM_007294.4(BRCA1):c.2296A>G (p.Ser766Gly)

SNV
Germline

Chr17:43093235

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
not specified
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA001529

rs_398122655

11 SubmittersRCV000077098 RCV000457419 RCV000482626 RCV000564749 RCV000585955

NM_007294.4(BRCA1):c.2299A>T (p.Ser767Cys)

SNV
Germline

Chr17:43093232

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA001532

rs_80357194

6 SubmittersRCV000077099 RCV000132053 RCV000554348 RCV003327367

NM_007294.4(BRCA1):c.2302A>G (p.Ser768Gly)

SNV
Germline

Chr17:43093229

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
BRCA1-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA001534

rs_398122656

9 SubmittersRCV000077100 RCV000132183 RCV000457007 RCV003237438 RCV004804063

NM_007294.4(BRCA1):c.2338C>G (p.Gln780Glu)

SNV
Germline

Chr17:43093193

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
Condition: not provided
Breast and/or ovarian cancer

Criteria Provided
Conflicting Classifications

CA001562

rs_80356945

11 SubmittersRCV000077101 RCV000165128 RCV000199021 RCV000481550 RCV000657140 RCV000769718

NM_007294.4(BRCA1):c.2389G>A (p.Glu797Lys)

SNV
Germline

Chr17:43093142

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA001587

rs_62625306

5 SubmittersRCV000077103 RCV003157395 RCV004819993 RCV003644894

NM_007294.4(BRCA1):c.2392C>T (p.Pro798Ser)

SNV
Germline

Chr17:43093139

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA001590

rs_398122658

9 SubmittersRCV000077104 RCV000696457 RCV001176762 RCV004998201 RCV005237516

NM_007294.4(BRCA1):c.250G>T (p.Glu84Ter)

SNV
Germline

Chr17:43104919

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA001662

rs_398122661

8 SubmittersRCV000077108 RCV000583852 RCV000702788

NM_007294.4(BRCA1):c.2551G>A (p.Glu851Lys)

SNV
Germline

Chr17:43092980

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA001682

rs_398122662

10 SubmittersRCV000077110 RCV000159874 RCV000575058 RCV000766566 RCV000800458

NM_007294.4(BRCA1):c.2612C>G (p.Pro871Arg)

SNV
Germline

Chr17:43092919

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA001719

rs_799917

9 SubmittersRCV000077111 RCV000221093 RCV000463451 RCV000442717 RCV001703982

NM_007294.4(BRCA1):c.2706A>C (p.Glu902Asp)

SNV
Germline

Chr17:43092825

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified

Criteria Provided
Conflicting Classifications

CA001781

rs_398122665

6 SubmittersRCV000077114 RCV000204921 RCV000583357 RCV004700386

NM_007294.4(BRCA1):c.2754G>T (p.Lys918Asn)

SNV
Germline

Chr17:43092777

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA001814

rs_398122668

4 SubmittersRCV000077117 RCV003157397 RCV003644895

NM_007294.4(BRCA1):c.3041T>C (p.Met1014Thr)

SNV
Germline

Chr17:43092490

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA002000

rs_80357020

5 SubmittersRCV000077121 RCV000561114 RCV000637599

NM_007294.4(BRCA1):c.3151A>G (p.Thr1051Ala)

SNV
Germline

Chr17:43092380

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA002053

rs_398122671

9 SubmittersRCV000077122 RCV000775163 RCV000792199 RCV001280615 RCV004800276

NM_007294.4(BRCA1):c.3155A>G (p.Asn1052Ser)

SNV
Germline

Chr17:43092376

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
not specified
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA002055

rs_398122672

10 SubmittersRCV000077123 RCV000496718 RCV000579719 RCV000691894 RCV003477479

NM_007294.4(BRCA1):c.3642G>T (p.Glu1214Asp)

SNV
Germline

Chr17:43091889

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA002332

rs_398122675

5 SubmittersRCV000077127 RCV001238201 RCV002453392

NM_007294.4(BRCA1):c.3650C>G (p.Ser1217Cys)

SNV
Germline

Chr17:43091881

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA002338

rs_398122676

9 SubmittersRCV000077128 RCV000159979 RCV000697628 RCV001020804 RCV002250554

NM_007294.4(BRCA1):c.3868A>G (p.Lys1290Glu)

SNV
Germline

Chr17:43091663

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Breast-ovarian cancer, familial, susceptibility to, 1
Familial cancer of breast
Fanconi anemia, complementation group S
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA002491

rs_80357254

13 SubmittersRCV000077134 RCV000218431 RCV000759529 RCV001193691 RCV005357512 RCV000234532

NM_007294.4(BRCA1):c.3897G>T (p.Gln1299His)

SNV
Germline

Chr17:43091634

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA002506

rs_398122678

6 SubmittersRCV000077135 RCV000509701 RCV003483465 RCV003764751

NM_007294.4(BRCA1):c.4054G>T (p.Glu1352Ter)

SNV
Germline

Chr17:43091477

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Breast-ovarian cancer, familial, susceptibility to, 1
Familial cancer of breast
Fanconi anemia, complementation group S
Pancreatic cancer, susceptibility to, 4
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA002590

rs_80357202

8 SubmittersRCV000077137 RCV000763001 RCV001268679 RCV001021760 RCV001854354

NM_007294.4(BRCA1):c.4088C>T (p.Ser1363Leu)

SNV
Germline

Chr17:43091443

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA002612

rs_398122680

7 SubmittersRCV000077139 RCV000216362 RCV000500864 RCV000471702

NM_007294.4(BRCA1):c.4094T>G (p.Leu1365Ter)

SNV
Germline

Chr17:43091437

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA002616

rs_398122681

5 SubmittersRCV000077140 RCV000585646 RCV001854355

NM_007294.4(BRCA1):c.4272G>C (p.Gln1424His)

SNV
Germline

Chr17:43082489

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Inherited breast cancer and ovarian cancer

Criteria Provided
Conflicting Classifications

CA002744

rs_398122684

4 SubmittersRCV000077144 RCV001022192 RCV000817619 RCV005237517

NM_007294.4(BRCA1):c.4354A>T (p.Lys1452Ter)

SNV
Germline

Chr17:43082407

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA002783

rs_398122685

6 SubmittersRCV000077145 RCV000159991 RCV000700553 RCV002326792

NM_007294.4(BRCA1):c.4357+2T>G

SNV
Germline

Chr17:43082402

Pathogenic/Likely pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA002792

rs_80358152

6 SubmittersRCV000077146 RCV000483230 RCV000581212 RCV000699035

NM_007294.4(BRCA1):c.4417T>C (p.Ser1473Pro)

SNV
Germline

Chr17:43076555

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
BRCA1-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA002842

rs_398122686

8 SubmittersRCV000077147 RCV000476060 RCV000566648 RCV001753482 RCV003607232 RCV004804064

NM_007294.4(BRCA1):c.5129G>A (p.Gly1710Glu)

SNV
Germline

Chr17:43063897

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA003258

rs_398122691

7 SubmittersRCV000077155 RCV000703488 RCV000771310

NM_007294.4(BRCA1):c.5153-3T>C

SNV
Germline

Chr17:43063376

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA003302

rs_375639469

8 SubmittersRCV000077156 RCV000165729 RCV000474546 RCV000588488 RCV002468933

NM_007294.4(BRCA1):c.5193+1G>T

SNV
Germline

Chr17:43063332

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA003338

rs_80358004

10 SubmittersRCV000077159 RCV000160001 RCV000496615 RCV001023694

NM_007294.4(BRCA1):c.5285G>T (p.Arg1762Met)

SNV
Germline

Chr17:43051110

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA003444

rs_398122694

7 SubmittersRCV000077163 RCV000130276 RCV001843474 RCV001854358

NM_007294.4(BRCA1):c.5327C>T (p.Pro1776Leu)

SNV
Germline

Chr17:43051068

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
BRCA1-related disorder
BRCA1-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA003479

rs_398122695

15 SubmittersRCV000077164 RCV000160003 RCV000217660 RCV000558496 RCV001420928 RCV004758636 RCV004804065

NM_007294.4(BRCA1):c.5357T>C (p.Leu1786Pro)

SNV
Germline

Chr17:43049170

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Malignant tumor of breast
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Triple-negative breast cancer
BRCA1-related cancer predisposition

Reviewed By Expert Panel

CA003521

rs_398122697

17 SubmittersRCV000077166 RCV000159852 RCV000465437 RCV000509661 RCV000766591 RCV005401325 RCV006259009

NM_007294.4(BRCA1):c.5458G>A (p.Gly1820Ser)

SNV
Germline

Chr17:43047652

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA003608

rs_398122698

7 SubmittersRCV000077167 RCV000222285 RCV000814710 RCV003607233

NM_007294.4(BRCA1):c.5467+8G>A

SNV
Germline

Chr17:43047635

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified

Criteria Provided
Conflicting Classifications

CA003615

rs_80358062

11 SubmittersRCV000077168 RCV000588816 RCV000776226 RCV001089242 RCV001778705

NM_007294.4(BRCA1):c.5468-2A>G

SNV
Germline

Chr17:43045804

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA003625

rs_398122699

7 SubmittersRCV000077170 RCV000637422 RCV001024146

NM_007294.4(BRCA1):c.5473G>A (p.Gly1825Arg)

SNV
Germline

Chr17:43045797

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA003637

rs_398122700

7 SubmittersRCV000077171 RCV000167923 RCV001024156 RCV001570599

NM_007294.4(BRCA1):c.5516T>C (p.Leu1839Ser)

SNV
Germline

Chr17:43045754

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA003693

rs_398122702

10 SubmittersRCV000077173 RCV000774924 RCV005089530

NM_007294.4(BRCA1):c.646A>G (p.Ile216Val)

SNV
Germline

Chr17:43095870

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA003773

rs_398122704

6 SubmittersRCV000077176 RCV000232412 RCV000562887 RCV001588901 RCV006451920

NM_007294.4(BRCA1):c.671-10A>G

SNV
Germline

Chr17:43094870

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
BRCA1-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA003799

rs_398122707

6 SubmittersRCV000077179 RCV000581099 RCV001460522 RCV001719813 RCV004804066

NM_007294.4(BRCA1):c.671-1G>C

SNV
Germline

Chr17:43094861

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA003804

rs_80358020

6 SubmittersRCV000077180 RCV000236539 RCV002362721 RCV003644898

NM_007294.4(BRCA1):c.695A>T (p.Asp232Val)

SNV
Germline

Chr17:43094836

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Fanconi anemia, complementation group S

Criteria Provided
Conflicting Classifications

CA003820

rs_398122708

9 SubmittersRCV000077181 RCV000233161 RCV000569574 RCV001800381 RCV003493435 RCV005357515

NM_007294.4(BRCA1):c.80+7C>A

SNV
Germline

Chr17:43124010

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
not specified
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA003891

rs_80358098

4 SubmittersRCV000077182 RCV000605551 RCV001468912 RCV003477480

NM_007294.4(BRCA1):c.81-1G>A

SNV
Germline

Chr17:43115780

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Gastric cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA003904

rs_80358018

13 SubmittersRCV000077185 RCV000131873 RCV000234498 RCV000478388 RCV003162504

NM_000059.4(BRCA2):c.8632G>A (p.Glu2878Lys)

SNV
Germline

Chr13:32371100

Pathogenic/Likely pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Breast neoplasm
Hereditary breast ovarian cancer syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA025745

rs_398122710

7 SubmittersRCV000077638 RCV000131955 RCV000240702 RCV001340616 RCV002250555

NM_000059.4(BRCA2):c.8633-1G>A

SNV
Germline

Chr13:32376669

Pathogenic/Likely pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA025747

rs_398122711

9 SubmittersRCV000077639 RCV000698187 RCV001770075 RCV002371922 RCV003460731

NM_000059.4(BRCA2):c.8699A>T (p.Asp2900Val)

SNV
Germline

Chr13:32376736

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified
Malignant tumor of breast
BRCA2-related cancer predisposition
Condition: not provided

Criteria Provided
Conflicting Classifications

CA025785

rs_398122712

14 SubmittersRCV000077641 RCV000534579 RCV000564657 RCV001001011 RCV001005030 RCV004804067 RCV006259010

NM_000059.4(BRCA2):c.8755-19A>G

SNV
Germline

Chr13:32379298

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
not specified

Criteria Provided
Conflicting Classifications

CA025811

rs_398122713

9 SubmittersRCV000077642 RCV000122936 RCV000160155 RCV000776372 RCV001199407

NM_000059.4(BRCA2):c.8807T>C (p.Leu2936Ser)

SNV
Germline

Chr13:32379369

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome
Condition: not provided
Familial cancer of breast
BRCA2-related disorder
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA025831

rs_398122714

14 SubmittersRCV000077643 RCV000132403 RCV000160158 RCV000198146 RCV000587247 RCV003460732 RCV004528280 RCV004804068

NM_000059.4(BRCA2):c.8839G>T (p.Glu2947Ter)

SNV
Germline

Chr13:32379401

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast

Reviewed By Expert Panel

CA025846

rs_398122715

10 SubmittersRCV000077644 RCV000198305 RCV000579572 RCV000759681 RCV003474664

NM_000059.4(BRCA2):c.8933C>G (p.Ser2978Ter)

SNV
Germline

Chr13:32379495

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA025878

rs_80359144

3 SubmittersRCV000077645 RCV001387963

NM_000059.4(BRCA2):c.8942A>G (p.Glu2981Gly)

SNV
Germline

Chr13:32379504

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
not specified
Familial cancer of breast
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA025881

rs_398122716

10 SubmittersRCV000077646 RCV000510052 RCV000586974 RCV001087133 RCV002469007 RCV003460733 RCV004804069

NM_000059.4(BRCA2):c.8958A>G (p.Ile2986Met)

SNV
Germline

Chr13:32379754

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA025900

rs_398122719

5 SubmittersRCV000077649 RCV000218696 RCV003764752

NM_000059.4(BRCA2):c.10240A>G (p.Thr3414Ala)

SNV
Germline

Chr13:32398753

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA010554

rs_80358405

11 SubmittersRCV000077652 RCV000129127 RCV000160262 RCV000458506 RCV000985459

NM_000059.4(BRCA2):c.1066T>A (p.Ser356Thr)

SNV
Germline

Chr13:32332544

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
not specified
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA010729

rs_398122722

4 SubmittersRCV000077654 RCV001193842 RCV001342021 RCV003157399

NM_000059.4(BRCA2):c.116C>T (p.Ala39Val)

SNV
Germline

Chr13:32319125

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
not specified

Criteria Provided
Conflicting Classifications

CA011036

rs_398122724

13 SubmittersRCV000077656 RCV000130510 RCV000160132 RCV000545014 RCV002267845

NM_000059.4(BRCA2):c.1261C>G (p.Gln421Glu)

SNV
Germline

Chr13:32332739

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified

Criteria Provided
Conflicting Classifications

CA011373

rs_80358419

7 SubmittersRCV000077657 RCV000223427 RCV001363119 RCV006263657

NM_000059.4(BRCA2):c.1304G>A (p.Arg435Lys)

SNV
Germline

Chr13:32332782

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
8 conditions
not specified
BRCA2-related disorder

Criteria Provided
Conflicting Classifications

CA011523

rs_398122725

12 SubmittersRCV000077658 RCV000218740 RCV000704661 RCV001010872 RCV002490672 RCV004767062 RCV004732652

NM_000059.4(BRCA2):c.1405G>C (p.Asp469His)

SNV
Germline

Chr13:32332883

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA011938

rs_398122727

4 SubmittersRCV000077660 RCV000820306 RCV002390231

NM_000059.4(BRCA2):c.1642C>T (p.Gln548Ter)

SNV
Germline

Chr13:32333120

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Reviewed By Expert Panel

CA012735

rs_398122729

9 SubmittersRCV000077662 RCV000130404 RCV000823651 RCV001800382

NM_000059.4(BRCA2):c.172G>A (p.Glu58Lys)

SNV
Germline

Chr13:32319181

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
BRCA2-related cancer predisposition
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA013007

rs_397507603

11 SubmittersRCV000077663 RCV000195636 RCV000216277 RCV000985468 RCV001824599 RCV004804070 RCV004566942

NM_000059.4(BRCA2):c.1733G>A (p.Gly578Asp)

SNV
Germline

Chr13:32333211

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA013024

rs_398122730

6 SubmittersRCV000077664 RCV000166334 RCV001854359 RCV004804071

NM_000059.4(BRCA2):c.1762A>G (p.Asn588Asp)

SNV
Germline

Chr13:32333240

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome
Fanconi anemia complementation group D1
Malignant tumor of breast
Condition: not provided

Criteria Provided
Conflicting Classifications

CA013120

rs_398122731

15 SubmittersRCV000077665 RCV000163030 RCV000160207 RCV000531905 RCV001109420 RCV001353480 RCV001703984

NM_000059.4(BRCA2):c.1805G>T (p.Gly602Val)

SNV
Germline

Chr13:32333283

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
not specified
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA013348

rs_398122732

10 SubmittersRCV000077666 RCV000572020 RCV000758866 RCV000824255 RCV001194415 RCV004804072

NM_000059.4(BRCA2):c.1814T>C (p.Ile605Thr)

SNV
Germline

Chr13:32333292

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
not specified
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA013415

rs_80358468

12 SubmittersRCV000077667 RCV000165793 RCV000588653 RCV001082118 RCV003488376 RCV004804073

NM_000059.4(BRCA2):c.1819A>T (p.Lys607Ter)

SNV
Germline

Chr13:32333297

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Reviewed By Expert Panel

CA013458

rs_80358471

8 SubmittersRCV000077668 RCV000496499 RCV002408604 RCV004696693

NM_000059.4(BRCA2):c.1885C>T (p.Leu629Phe)

SNV
Germline

Chr13:32333363

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
not specified

Criteria Provided
Conflicting Classifications

CA013724

rs_398122734

8 SubmittersRCV000077670 RCV000130468 RCV000479487 RCV000637481 RCV004782048

NM_000059.4(BRCA2):c.1945C>T (p.Gln649Ter)

SNV
Germline

Chr13:32336300

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast
BRCA2-related cancer predisposition

Reviewed By Expert Panel

CA014000

rs_398122735

13 SubmittersRCV000077672 RCV000496928 RCV000772116 RCV001262845 RCV005357516

NM_000059.4(BRCA2):c.1966A>G (p.Thr656Ala)

SNV
Germline

Chr13:32336321

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA014049

rs_398122736

8 SubmittersRCV000077673 RCV000216699 RCV000637334 RCV001175561 RCV001566524

NM_000059.4(BRCA2):c.2044A>T (p.Ile682Phe)

SNV
Germline

Chr13:32336399

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA014207

rs_398122738

7 SubmittersRCV000077675 RCV000164636 RCV000695727

NM_000059.4(BRCA2):c.2045T>C (p.Ile682Thr)

SNV
Germline

Chr13:32336400

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Breast and/or ovarian cancer
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA014216

rs_398122739

6 SubmittersRCV000077676 RCV000525381 RCV000770714 RCV002415572

NM_000059.4(BRCA2):c.2047T>C (p.Ser683Pro)

SNV
Germline

Chr13:32336402

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA014223

rs_398122740

4 SubmittersRCV000077677 RCV001854360 RCV002415573

NM_000059.4(BRCA2):c.217C>T (p.Gln73Ter)

SNV
Germline

Chr13:32319226

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA014544

rs_398122741

6 SubmittersRCV000077678 RCV002426640 RCV002515748

NM_000059.4(BRCA2):c.2214T>A (p.Cys738Ter)

SNV
Germline

Chr13:32336569

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
8 conditions

Reviewed By Expert Panel

CA014637

rs_398122742

9 SubmittersRCV000077679 RCV000581800 RCV000693161 RCV001588902 RCV005007990

NM_000059.4(BRCA2):c.2252C>T (p.Thr751Ile)

SNV
Germline

Chr13:32336607

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA014749

rs_398122743

8 SubmittersRCV000077680 RCV000165229 RCV000704300 RCV004597740

NM_000059.4(BRCA2):c.232C>T (p.Pro78Ser)

SNV
Germline

Chr13:32319241

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA014957

rs_398122745

7 SubmittersRCV000077682 RCV000162666 RCV000637740 RCV003460735

NM_000059.4(BRCA2):c.2368G>T (p.Glu790Ter)

SNV
Germline

Chr13:32336723

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Reviewed By Expert Panel

CA015053

rs_398122746

13 SubmittersRCV000077684 RCV000507480 RCV000657661 RCV001015304 RCV003460736

NM_000059.4(BRCA2):c.2657A>G (p.Asn886Ser)

SNV
Germline

Chr13:32337012

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
8 conditions

Criteria Provided
Conflicting Classifications

CA015957

rs_80358526

8 SubmittersRCV000077690 RCV000131954 RCV001299353 RCV001800383 RCV002483128

NM_000059.4(BRCA2):c.2758C>T (p.Pro920Ser)

SNV
Germline

Chr13:32337113

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA016284

rs_397507293

5 SubmittersRCV000077693 RCV000122904 RCV001016515 RCV002250556

NM_000059.4(BRCA2):c.2822T>G (p.Val941Gly)

SNV
Germline

Chr13:32337177

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
BRCA2-related cancer predisposition
not specified

Criteria Provided
Conflicting Classifications

CA016510

rs_398122754

9 SubmittersRCV000077696 RCV000509894 RCV000692302 RCV002260606 RCV004804075 RCV006268109

NM_000059.4(BRCA2):c.2835A>C (p.Lys945Asn)

SNV
Germline

Chr13:32337190

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA016551

rs_398122755

6 SubmittersRCV000077697 RCV000213415 RCV000459511

NM_000059.4(BRCA2):c.2924T>G (p.Ile975Ser)

SNV
Germline

Chr13:32337279

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA016800

rs_398122756

5 SubmittersRCV000077698 RCV000561550 RCV001854361

NM_000059.4(BRCA2):c.2942A>G (p.Lys981Arg)

SNV
Germline

Chr13:32337297

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified

Criteria Provided
Conflicting Classifications

CA016842

rs_398122757

5 SubmittersRCV000077699 RCV000700243 RCV002433582 RCV003155066

NM_000059.4(BRCA2):c.2981C>T (p.Ala994Val)

SNV
Germline

Chr13:32337336

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA016957

rs_398122758

7 SubmittersRCV000077701 RCV000122905 RCV000165816 RCV000160052 RCV006451921

NM_000059.4(BRCA2):c.3010A>G (p.Ser1004Gly)

SNV
Germline

Chr13:32337365

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA017037

rs_398122759

9 SubmittersRCV000077702 RCV000232614 RCV000565814 RCV001811354 RCV005357517

NM_000059.4(BRCA2):c.3302A>G (p.His1101Arg)

SNV
Germline

Chr13:32337657

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
Condition: not provided
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA017748

rs_398122761

14 SubmittersRCV000077704 RCV000129726 RCV000196747 RCV000483080 RCV000657002 RCV005357518

NM_000059.4(BRCA2):c.3407T>C (p.Ile1136Thr)

SNV
Germline

Chr13:32337762

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
BRCA2-related disorder
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA017957

rs_398122765

7 SubmittersRCV000077708 RCV001020224 RCV001217071 RCV004537302 RCV005357519

NM_000059.4(BRCA2):c.3414G>C (p.Gln1138His)

SNV
Germline

Chr13:32337769

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
BRCA2-related disorder
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA017972

rs_398122766

7 SubmittersRCV000077709 RCV001020235 RCV001217072 RCV004537303 RCV005364973

NM_000059.4(BRCA2):c.3518T>C (p.Ile1173Thr)

SNV
Germline

Chr13:32337873

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA018250

rs_398122767

5 SubmittersRCV000077710 RCV000130564 RCV000697710

NM_000059.4(BRCA2):c.352C>T (p.Arg118Cys)

SNV
Germline

Chr13:32325111

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome
Breast neoplasm
Condition: not provided
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA018264

rs_375125172

15 SubmittersRCV000077711 RCV000129600 RCV000160016 RCV000168454 RCV000240706 RCV000590557 RCV003474666

NM_000059.4(BRCA2):c.3668A>G (p.His1223Arg)

SNV
Germline

Chr13:32338023

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
not specified

Criteria Provided
Conflicting Classifications

CA018509

rs_398122768

6 SubmittersRCV000077712 RCV000800645 RCV001562627 RCV002453393 RCV003321501

NM_000059.4(BRCA2):c.3709G>C (p.Ala1237Pro)

SNV
Germline

Chr13:32338064

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
not specified

Criteria Provided
Conflicting Classifications

CA018619

rs_398122770

11 SubmittersRCV000077714 RCV000205458 RCV000759605 RCV000776156 RCV001818243

NM_000059.4(BRCA2):c.3949A>T (p.Thr1317Ser)

SNV
Germline

Chr13:32338304

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Malignant tumor of breast
not specified
Condition: not provided
Inherited breast cancer and ovarian cancer

Criteria Provided
Conflicting Classifications

CA019259

rs_398122773

10 SubmittersRCV000077718 RCV000229385 RCV000509876 RCV001355525 RCV001804830 RCV003736569 RCV006605220

NM_000059.4(BRCA2):c.3995A>G (p.His1332Arg)

SNV
Germline

Chr13:32338350

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA019343

rs_398122774

5 SubmittersRCV000077719 RCV000165461 RCV000545850

NM_000059.4(BRCA2):c.4178C>G (p.Ala1393Gly)

SNV
Germline

Chr13:32338533

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA019671

rs_398122776

5 SubmittersRCV000077722 RCV000164308 RCV000637643

NM_000059.4(BRCA2):c.426-2A>G

SNV
Germline

Chr13:32326099

Pathogenic/Likely pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary breast ovarian cancer syndrome
Malignant tumor of breast
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA019852

rs_398122779

8 SubmittersRCV000077725 RCV000160018 RCV000503210 RCV001353493 RCV002326793 RCV003460738

NM_000059.4(BRCA2):c.4274A>G (p.Asp1425Gly)

SNV
Germline

Chr13:32338629

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA019888

rs_398122780

9 SubmittersRCV000077726 RCV000471950 RCV000772745 RCV000985520 RCV001193119

NM_000059.4(BRCA2):c.4294A>G (p.Ser1432Gly)

SNV
Germline

Chr13:32338649

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA019930

rs_398122781

4 SubmittersRCV000077727 RCV003644900 RCV002326794

NM_000059.4(BRCA2):c.4325C>G (p.Ser1442Ter)

SNV
Germline

Chr13:32338680

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA019993

rs_80358670

7 SubmittersRCV000077728 RCV000160186 RCV000570068 RCV001854362

NM_000059.4(BRCA2):c.4477G>C (p.Glu1493Gln)

SNV
Germline

Chr13:32338832

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA020254

rs_398122782

4 SubmittersRCV000077729 RCV000459380 RCV003157400

NM_000059.4(BRCA2):c.4739G>A (p.Cys1580Tyr)

SNV
Germline

Chr13:32339094

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA020733

rs_398122784

4 SubmittersRCV000077732 RCV001346041 RCV001762202 RCV003157401

NM_000059.4(BRCA2):c.4847T>G (p.Leu1616Ter)

SNV
Germline

Chr13:32339202

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA020903

rs_398122786

4 SubmittersRCV000077734 RCV002336230 RCV002514364

NM_000059.4(BRCA2):c.489T>G (p.Ser163Arg)

SNV
Germline

Chr13:32326255

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA020981

rs_398122787

8 SubmittersRCV000077735 RCV000205650 RCV000506258 RCV001023225 RCV003477481 RCV004566943

NM_000059.4(BRCA2):c.4906A>G (p.Lys1636Glu)

SNV
Germline

Chr13:32339261

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast neoplasm
Condition: not provided

Criteria Provided
Conflicting Classifications

CA020993

rs_398122788

7 SubmittersRCV000077737 RCV000166671 RCV000231152 RCV000240716 RCV000758900

NM_000059.4(BRCA2):c.5054C>A (p.Ser1685Ter)

SNV
Germline

Chr13:32339409

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1

Reviewed By Expert Panel

CA021187

rs_398122791

8 SubmittersRCV000077740 RCV000255153 RCV000802160 RCV001186723 RCV005861048

NM_000059.4(BRCA2):c.5125G>T (p.Asp1709Tyr)

SNV
Germline

Chr13:32339480

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
not specified
8 conditions

Criteria Provided
Conflicting Classifications

CA021330

rs_398122792

14 SubmittersRCV000077741 RCV000213126 RCV000206087 RCV000758905 RCV002228188 RCV005007991

NM_000059.4(BRCA2):c.5155A>T (p.Asn1719Tyr)

SNV
Germline

Chr13:32339510

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA021407

rs_398122794

6 SubmittersRCV000077743 RCV000580987 RCV001854363 RCV006439630

NM_000059.4(BRCA2):c.-3A>G

SNV
Germline

Chr13:32316458

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA019351

rs_431825277

3 SubmittersRCV000082879 RCV000122896 RCV000772642

NM_000059.4(BRCA2):c.10162A>G (p.Thr3388Ala)

SNV
Germline

Chr13:32398675

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA010402

rs_431825278

5 SubmittersRCV000082880 RCV000587975 RCV001443475 RCV001804835

NM_000059.4(BRCA2):c.1146A>T (p.Lys382Asn)

SNV
Germline

Chr13:32332624

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
8 conditions

Criteria Provided
Conflicting Classifications

CA010939

rs_431825280

10 SubmittersRCV000082882 RCV000130529 RCV000486000 RCV001036707 RCV002498436

NM_000059.4(BRCA2):c.1421T>C (p.Leu474Pro)

SNV
Germline

Chr13:32332899

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA011989

rs_431825281

4 SubmittersRCV000082884 RCV000122899 RCV001011512

NM_000059.4(BRCA2):c.1433C>A (p.Thr478Lys)

SNV
Germline

Chr13:32332911

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
8 conditions

Criteria Provided
Conflicting Classifications

CA012027

rs_431825282

6 SubmittersRCV000082885 RCV000559197 RCV000772727 RCV000763880

NM_000059.4(BRCA2):c.1568A>G (p.His523Arg)

SNV
Germline

Chr13:32333046

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
not specified
Hereditary cancer-predisposing syndrome
Breast neoplasm
Condition: not provided
Malignant tumor of pancreas
Hereditary breast ovarian cancer syndrome
Malignant tumor of breast
Familial cancer of breast
Ovarian cancer

Criteria Provided
Conflicting Classifications

CA012439

rs_80358443

16 SubmittersRCV000082887 RCV000160205 RCV000132044 RCV000240762 RCV000590104 RCV000677856 RCV001088277 RCV001353673 RCV002250558 RCV003153359

NM_000059.4(BRCA2):c.1709A>G (p.Asn570Ser)

SNV
Germline

Chr13:32333187

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA012963

rs_431825284

9 SubmittersRCV000082889 RCV000637388 RCV000767150 RCV001012835

NM_000059.4(BRCA2):c.1777G>T (p.Ala593Ser)

SNV
Germline

Chr13:32333255

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified

Criteria Provided
Conflicting Classifications

CA013186

rs_431825286

6 SubmittersRCV000082891 RCV000562320 RCV000637708 RCV004595916

NM_000059.4(BRCA2):c.1780A>C (p.Ile594Leu)

SNV
Germline

Chr13:32333258

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA013194

rs_431825287

9 SubmittersRCV000082892 RCV000167234 RCV000219220 RCV001219311

NM_000059.4(BRCA2):c.1907C>G (p.Ser636Ter)

SNV
Germline

Chr13:32333385

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Condition: not provided
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA013790

rs_431825288

7 SubmittersRCV000082893 RCV000526079 RCV001725966 RCV003460757 RCV002408612

NM_000059.4(BRCA2):c.2071G>A (p.Ala691Thr)

SNV
Germline

Chr13:32336426

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA014272

rs_431825290

6 SubmittersRCV000082895 RCV000565909 RCV001854444 RCV004804078

NM_000059.4(BRCA2):c.2086G>A (p.Glu696Lys)

SNV
Germline

Chr13:32336441

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA014291

rs_431825291

5 SubmittersRCV000082896 RCV001176132 RCV001364606

NM_000059.4(BRCA2):c.2098T>A (p.Leu700Ile)

SNV
Germline

Chr13:32336453

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA014347

rs_431825293

5 SubmittersRCV000082898 RCV000204537 RCV000776355

NM_000059.4(BRCA2):c.2173A>G (p.Lys725Glu)

SNV
Germline

Chr13:32336528

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
not specified
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA014510

rs_431825294

6 SubmittersRCV000082899 RCV000814350 RCV001175563 RCV002426648

NM_000059.4(BRCA2):c.2185A>G (p.Ile729Val)

SNV
Germline

Chr13:32336540

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA014554

rs_431825295

5 SubmittersRCV000082900 RCV000219501 RCV001226249

NM_000059.4(BRCA2):c.2186T>C (p.Ile729Thr)

SNV
Germline

Chr13:32336541

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Breast neoplasm
Hereditary breast ovarian cancer syndrome
Ovarian cancer
Condition: not provided
8 conditions
Fanconi anemia complementation group D1
not specified
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA014563

rs_431825296

14 SubmittersRCV000082901 RCV000166578 RCV000240800 RCV000637814 RCV000677830 RCV000758870 RCV000763882 RCV001112184 RCV002298468 RCV005357528

NM_000059.4(BRCA2):c.2398G>A (p.Gly800Ser)

SNV
Germline

Chr13:32336753

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA015119

rs_431825297

4 SubmittersRCV000082902 RCV001214081 RCV002444552

NM_000059.4(BRCA2):c.2789A>G (p.Tyr930Cys)

SNV
Germline

Chr13:32337144

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA016368

rs_431825299

5 SubmittersRCV000082904 RCV000555804 RCV000573307

NM_000059.4(BRCA2):c.3167A>G (p.Gln1056Arg)

SNV
Germline

Chr13:32337522

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
not specified
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA017412

rs_431825301

7 SubmittersRCV000082906 RCV000218077 RCV000486491 RCV000705390 RCV000780000 RCV004804080

NM_000059.4(BRCA2):c.3173A>G (p.Lys1058Arg)

SNV
Germline

Chr13:32337528

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA017465

rs_431825302

13 SubmittersRCV000082907 RCV000173966 RCV000565270 RCV000724725 RCV001084692

NM_000059.4(BRCA2):c.3194T>C (p.Ile1065Thr)

SNV
Germline

Chr13:32337549

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA017501

rs_431825303

9 SubmittersRCV000082908 RCV000168025 RCV000132329 RCV001284559 RCV004804081

NM_000059.4(BRCA2):c.3226G>A (p.Val1076Ile)

SNV
Germline

Chr13:32337581

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Fanconi anemia complementation group D1
not specified
BRCA2-related disorder

Criteria Provided
Conflicting Classifications

CA017586

rs_431825304

13 SubmittersRCV000082909 RCV000222899 RCV000588617 RCV000799401 RCV001113630 RCV002247480 RCV004732659

NM_000059.4(BRCA2):c.3434C>T (p.Pro1145Leu)

SNV
Germline

Chr13:32337789

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA018004

rs_431825306

4 SubmittersRCV000082911 RCV002453412 RCV006612215

NM_000059.4(BRCA2):c.3479G>A (p.Arg1160Lys)

SNV
Germline

Chr13:32337834

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA018145

rs_183920365

12 SubmittersRCV000082913 RCV000210809 RCV000459507 RCV000521196 RCV000780007

NM_000059.4(BRCA2):c.3517A>T (p.Ile1173Phe)

SNV
Germline

Chr13:32337872

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Chordoma
not specified
8 conditions

Criteria Provided
Conflicting Classifications

CA018244

rs_431825308

11 SubmittersRCV000082914 RCV000562261 RCV000637509 RCV001582574 RCV002266922 RCV003321502 RCV005007998

NM_000059.4(BRCA2):c.3551G>C (p.Gly1184Ala)

SNV
Germline

Chr13:32337906

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA018307

rs_431825309

5 SubmittersRCV000082915 RCV000166576 RCV001857399

NM_000059.4(BRCA2):c.3578C>T (p.Ala1193Val)

SNV
Germline

Chr13:32337933

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA018374

rs_431825310

10 SubmittersRCV000082916 RCV000216169 RCV000429172 RCV000812976 RCV001357751

NM_000059.4(BRCA2):c.3700C>A (p.Leu1234Met)

SNV
Germline

Chr13:32338055

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA018608

rs_431825311

6 SubmittersRCV000082918 RCV000570982 RCV000759604 RCV000809862

NM_000059.4(BRCA2):c.3939C>G (p.Tyr1313Ter)

SNV
Germline

Chr13:32338294

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA019246

rs_80358641

7 SubmittersRCV000082922 RCV000520208 RCV000567978 RCV001388924

NM_000059.4(BRCA2):c.4157A>T (p.Asp1386Val)

SNV
Germline

Chr13:32338512

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA019633

rs_431825316

6 SubmittersRCV000082924 RCV001021967 RCV001854445 RCV004804082

NM_000059.4(BRCA2):c.4159T>A (p.Leu1387Ile)

SNV
Germline

Chr13:32338514

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
BRCA2-related cancer predisposition
not specified

Criteria Provided
Conflicting Classifications

CA019635

rs_431825317

9 SubmittersRCV000082925 RCV000164638 RCV000637472 RCV004998218 RCV004804083 RCV005417456

NM_000059.4(BRCA2):c.4183G>T (p.Ala1395Ser)

SNV
Germline

Chr13:32338538

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Malignant tumor of breast
Condition: not provided
not specified
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA019684

rs_431825318

13 SubmittersRCV000082926 RCV000165596 RCV000546266 RCV000478490 RCV000766618 RCV003330428 RCV004804084

NM_000059.4(BRCA2):c.4354C>G (p.Gln1452Glu)

SNV
Germline

Chr13:32338709

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified

Criteria Provided
Conflicting Classifications

CA020031

rs_431825319

7 SubmittersRCV000082927 RCV000213089 RCV001051329 RCV003398686

NM_000059.4(BRCA2):c.4423A>G (p.Met1475Val)

SNV
Germline

Chr13:32338778

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA020166

rs_431825320

4 SubmittersRCV000082928 RCV000566502 RCV000701791

NM_000059.4(BRCA2):c.4747A>T (p.Ile1583Phe)

SNV
Germline

Chr13:32339102

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA020749

rs_56072130

8 SubmittersRCV000082931 RCV000130034 RCV000702595 RCV001283924 RCV003987358

NM_000059.4(BRCA2):c.4975T>G (p.Ser1659Ala)

SNV
Germline

Chr13:32339330

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA021085

rs_431825324

7 SubmittersRCV000082933 RCV000215418 RCV000545723 RCV001775581

NM_000059.4(BRCA2):c.5239A>G (p.Asn1747Asp)

SNV
Germline

Chr13:32339594

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA021837

rs_431825328

7 SubmittersRCV000082939 RCV000581287 RCV001857401 RCV006274986

NM_000059.4(BRCA2):c.5335G>A (p.Val1779Ile)

SNV
Germline

Chr13:32339690

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
not specified
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA022034

rs_431825329

9 SubmittersRCV000082940 RCV000231399 RCV000486253 RCV000561227 RCV001193174 RCV005357530

NM_000059.4(BRCA2):c.5578A>T (p.Lys1860Ter)

SNV
Germline

Chr13:32339933

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Reviewed By Expert Panel

CA022617

rs_431825332

5 SubmittersRCV000082944 RCV000164633 RCV000637590 RCV001800390

NM_000059.4(BRCA2):c.5707A>C (p.Ile1903Leu)

SNV
Germline

Chr13:32340062

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA023020

rs_431825333

4 SubmittersRCV000082945 RCV000562326 RCV001854446

NM_000059.4(BRCA2):c.5714A>T (p.His1905Leu)

SNV
Germline

Chr13:32340069

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA023034

rs_80358796

6 SubmittersRCV000082946 RCV000160097 RCV000571260 RCV001202227

NM_000059.4(BRCA2):c.5729A>T (p.Asn1910Ile)

SNV
Germline

Chr13:32340084

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
BRCA2-related cancer predisposition
not specified

Criteria Provided
Conflicting Classifications

CA023080

rs_276174863

13 SubmittersRCV000082947 RCV000132401 RCV000457400 RCV001283930 RCV004804085 RCV006451922

NM_000059.4(BRCA2):c.5737T>G (p.Cys1913Gly)

SNV
Germline

Chr13:32340092

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast and/or ovarian cancer
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA023107

rs_80358799

12 SubmittersRCV000082948 RCV000130867 RCV000168581 RCV000257905 RCV000588195 RCV003149769 RCV005357531

NM_000059.4(BRCA2):c.5747A>G (p.His1916Arg)

SNV
Germline

Chr13:32340102

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
8 conditions
not specified
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA023149

rs_431825334

11 SubmittersRCV000082949 RCV000160100 RCV000214692 RCV000702374 RCV000763890 RCV000779974 RCV004804086

NM_000059.4(BRCA2):c.5784A>C (p.Glu1928Asp)

SNV
Germline

Chr13:32340139

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA023225

rs_431825335

7 SubmittersRCV000082950 RCV000122919 RCV000523964 RCV000580238

NM_000059.4(BRCA2):c.5846A>G (p.Asp1949Gly)

SNV
Germline

Chr13:32340201

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA023295

rs_431825336

8 SubmittersRCV000082951 RCV000461990 RCV001024593 RCV003322751

NM_000059.4(BRCA2):c.5855T>G (p.Leu1952Trp)

SNV
Germline

Chr13:32340210

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA023308

rs_375064902

5 SubmittersRCV000082952 RCV001854447 RCV002354286

NM_000059.4(BRCA2):c.6080G>A (p.Arg2027Lys)

SNV
Germline

Chr13:32340435

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified

Criteria Provided
Conflicting Classifications

CA023625

rs_431825337

9 SubmittersRCV000082953 RCV000160107 RCV000772758 RCV000794485 RCV000780019

NM_000059.4(BRCA2):c.6118A>G (p.Ile2040Val)

SNV
Germline

Chr13:32340473

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA023670

rs_80358850

7 SubmittersRCV000082954 RCV000165889 RCV000416535

NM_000059.4(BRCA2):c.631+7A>G

SNV
Germline

Chr13:32326620

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA023865

rs_431825339

9 SubmittersRCV000082956 RCV000477537 RCV000499706 RCV001182329 RCV001353791 RCV003607235

NM_000059.4(BRCA2):c.6626T>C (p.Ile2209Thr)

SNV
Germline

Chr13:32340981

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
8 conditions
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA024222

rs_431825344

10 SubmittersRCV000082961 RCV000119208 RCV000217422 RCV000763894 RCV001844033 RCV006259011

NM_000059.4(BRCA2):c.6679G>A (p.Ala2227Thr)

SNV
Germline

Chr13:32341034

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified

Criteria Provided
Conflicting Classifications

CA024283

rs_431825345

5 SubmittersRCV000082962 RCV000538858 RCV001025522 RCV003226193

NM_000059.4(BRCA2):c.6837A>T (p.Leu2279Phe)

SNV
Germline

Chr13:32341192

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA024480

rs_431825346

6 SubmittersRCV000082963 RCV000132289 RCV000694161 RCV006259012

NM_000059.4(BRCA2):c.6959T>A (p.Leu2320Ter)

SNV
Germline

Chr13:32346848

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA024636

rs_80358923

8 SubmittersRCV000082965 RCV000216188 RCV000509686 RCV000637789

NM_000059.4(BRCA2):c.7006C>T (p.Arg2336Cys)

SNV
Germline

Chr13:32346895

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
not specified
Breast and/or ovarian cancer
Ovarian cancer
BRCA2-related disorder

Criteria Provided
Conflicting Classifications

CA024698

rs_431825347

14 SubmittersRCV000082966 RCV000132214 RCV000476201 RCV000588307 RCV000855635 RCV001798283 RCV003153360 RCV004732660

NM_000059.4(BRCA2):c.7178T>C (p.Met2393Thr)

SNV
Germline

Chr13:32355031

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA024926

rs_431825351

7 SubmittersRCV000082970 RCV000131350 RCV000697572 RCV000985576 RCV005237523

NM_000059.4(BRCA2):c.7331A>G (p.Asp2444Gly)

SNV
Germline

Chr13:32355184

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA025032

rs_431825352

5 SubmittersRCV000082971 RCV000166106 RCV000481679 RCV001857402

NM_000059.4(BRCA2):c.7625C>T (p.Thr2542Met)

SNV
Germline

Chr13:32357749

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
9 conditions
Condition: not provided
not specified
Familial cancer of breast
BRCA2-related cancer predisposition
Hereditary cancer

Criteria Provided
Conflicting Classifications

CA025196

rs_80358989

13 SubmittersRCV000082975 RCV000132470 RCV000197583 RCV000515343 RCV000589734 RCV001844034 RCV004566974 RCV004804089 RCV004700399

NM_000059.4(BRCA2):c.7628A>G (p.Tyr2543Cys)

SNV
Germline

Chr13:32357752

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
8 conditions
Breast and/or ovarian cancer
Familial cancer of breast
BRCA2-related disorder
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA025199

rs_431825354

20 SubmittersRCV000082976 RCV000122930 RCV000509648 RCV000504525 RCV000758949 RCV000765136 RCV003492434 RCV003474687 RCV004529873 RCV004804090

NM_000059.4(BRCA2):c.7811T>C (p.Leu2604Pro)

SNV
Germline

Chr13:32362528

Likely pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
BRCA2-related cancer predisposition

Reviewed By Expert Panel

CA025295

rs_431825357

7 SubmittersRCV000082980 RCV000165518 RCV000755223 RCV003644903 RCV006259013

NM_000059.4(BRCA2):c.7897G>T (p.Ala2633Ser)

SNV
Germline

Chr13:32362614

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
BRCA2-related cancer predisposition
not specified

Criteria Provided
Conflicting Classifications

CA025325

rs_431825359

6 SubmittersRCV000082982 RCV000703286 RCV001026920 RCV004668774 RCV004804092 RCV006451923

NM_000059.4(BRCA2):c.7930A>G (p.Asn2644Asp)

SNV
Germline

Chr13:32362647

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
not specified

Criteria Provided
Conflicting Classifications

CA025340

rs_431825360

10 SubmittersRCV000082983 RCV000213312 RCV000218919 RCV000808327 RCV001194436

NM_000059.4(BRCA2):c.7985C>A (p.Thr2662Lys)

SNV
Germline

Chr13:32363187

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Malignant tumor of breast

Criteria Provided
Conflicting Classifications

CA025382

rs_431825362

13 SubmittersRCV000082985 RCV000129687 RCV000196144 RCV000210092 RCV000587063 RCV001357871

NM_000059.4(BRCA2):c.8282C>G (p.Ser2761Cys)

SNV
Germline

Chr13:32363484

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA025548

rs_431825363

4 SubmittersRCV000082986 RCV000222731 RCV003764772

NM_000059.4(BRCA2):c.836G>T (p.Cys279Phe)

SNV
Germline

Chr13:32332314

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA025609

rs_431825364

4 SubmittersRCV000082987 RCV000223335 RCV001202842

NM_000059.4(BRCA2):c.8714A>G (p.Tyr2905Cys)

SNV
Germline

Chr13:32376751

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA025791

rs_431825368

7 SubmittersRCV000082992 RCV000460625 RCV000479199 RCV000584302 RCV004804093

NM_000059.4(BRCA2):c.8755-17A>G

SNV
Germline

Chr13:32379300

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA025810

rs_431825370

5 SubmittersRCV000082994 RCV000580630 RCV000779976 RCV000900795

NM_000059.4(BRCA2):c.8837T>A (p.Leu2946Ter)

SNV
Germline

Chr13:32379399

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
Condition: not provided
BRCA2-related cancer predisposition

Reviewed By Expert Panel

CA025845

rs_431825371

10 SubmittersRCV000082995 RCV000164349 RCV000471016 RCV000508358 RCV000657681 RCV004804094

NM_000059.4(BRCA2):c.8957T>C (p.Ile2986Thr)

SNV
Germline

Chr13:32379753

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
not specified
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA025899

rs_431825372

6 SubmittersRCV000082996 RCV001227408 RCV001280628 RCV001525932

NM_000059.4(BRCA2):c.9052A>G (p.Ser3018Gly)

SNV
Germline

Chr13:32379848

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA025943

rs_431825373

7 SubmittersRCV000082998 RCV000132352 RCV000483142 RCV000703275 RCV003474688

NM_000059.4(BRCA2):c.905C>A (p.Thr302Asn)

SNV
Germline

Chr13:32332383

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA025950

rs_80359158

7 SubmittersRCV000082999 RCV000197152 RCV000564157 RCV000758969

NM_000059.4(BRCA2):c.9098C>T (p.Thr3033Ile)

SNV
Germline

Chr13:32379894

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
not specified

Criteria Provided
Conflicting Classifications

CA025974

rs_431825374

9 SubmittersRCV000083000 RCV000166290 RCV000269121 RCV000689164 RCV001824601

NM_000059.4(BRCA2):c.9256+10A>G

SNV
Germline

Chr13:32380155

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Breast and/or ovarian cancer
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA026055

rs_431825375

3 SubmittersRCV000083001 RCV001798284 RCV002055239

NM_000059.4(BRCA2):c.9256+1G>C

SNV
Germline

Chr13:32380146

Pathogenic/Likely pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA026058

rs_81002883

7 SubmittersRCV000083002 RCV001051718 RCV002255284

NM_000059.4(BRCA2):c.9458G>T (p.Gly3153Val)

SNV
Germline

Chr13:32394890

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
Familial cancer of breast
Condition: not provided

Criteria Provided
Conflicting Classifications

CA026168

rs_80359220

8 SubmittersRCV000083003 RCV000166183 RCV000234502 RCV002267847 RCV003460761 RCV003237440

NM_000059.4(BRCA2):c.9547A>G (p.Ile3183Val)

SNV
Germline

Chr13:32396943

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA026207

rs_377123889

7 SubmittersRCV000083004 RCV000129405 RCV000585947 RCV000637985 RCV004804095

NM_000059.4(BRCA2):c.9584C>T (p.Thr3195Ile)

SNV
Germline

Chr13:32396980

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA026223

rs_431825376

5 SubmittersRCV000083005 RCV001050514 RCV000583198

NM_000059.4(BRCA2):c.9647T>C (p.Leu3216Pro)

SNV
Germline

Chr13:32397043

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
BRCA2-related cancer predisposition
Condition: not provided

Criteria Provided
Conflicting Classifications

CA026245

rs_431825377

8 SubmittersRCV000083006 RCV000164007 RCV000460198 RCV004804096 RCV004998220

NM_000059.4(BRCA2):c.9651G>A (p.Met3217Ile)

SNV
Germline

Chr13:32398164

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified

Criteria Provided
Conflicting Classifications

CA026259

rs_431825379

5 SubmittersRCV000083008 RCV000468886 RCV000582783 RCV002281917

NM_000059.4(BRCA2):c.9821T>G (p.Leu3274Trp)

SNV
Germline

Chr13:32398334

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Familial cancer of breast
not specified

Criteria Provided
Conflicting Classifications

CA026306

rs_431825380

9 SubmittersRCV000083010 RCV000131538 RCV000477120 RCV000590068 RCV003460762 RCV005055573

NM_007294.4(BRCA1):c.1015A>G (p.Lys339Glu)

SNV
Germline

Chr17:43094516

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Fanconi anemia, complementation group S
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA000685

rs_55842957

11 SubmittersRCV000083015 RCV000417490 RCV000776162 RCV001085581 RCV005357532

NM_007294.4(BRCA1):c.1214C>G (p.Ser405Ter)

SNV
Germline

Chr17:43094317

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Breast neoplasm
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Reviewed By Expert Panel

CA000798

rs_80357481

7 SubmittersRCV000083017 RCV000677801 RCV000813264 RCV000772035 RCV004998222

NM_007294.4(BRCA1):c.2081G>A (p.Ser694Asn)

SNV
Germline

Chr17:43093450

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA001381

rs_431825388

6 SubmittersRCV000083025 RCV000164402 RCV001245413 RCV004721261

NM_007294.4(BRCA1):c.2648C>T (p.Ala883Val)

SNV
Germline

Chr17:43092883

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA001735

rs_431825391

5 SubmittersRCV000083028 RCV001016204 RCV005237524 RCV006629073

NM_007294.4(BRCA1):c.2732G>A (p.Gly911Glu)

SNV
Germline

Chr17:43092799

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA001801

rs_431825392

6 SubmittersRCV000083029 RCV000771416 RCV001313460 RCV004998223

NM_007294.4(BRCA1):c.2910A>C (p.Lys970Asn)

SNV
Germline

Chr17:43092621

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA001895

rs_431825394

10 SubmittersRCV000083031 RCV000130827 RCV000656787 RCV001087157

NM_007294.4(BRCA1):c.3406C>A (p.Pro1136Thr)

SNV
Germline

Chr17:43092125

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA002201

rs_431825395

8 SubmittersRCV000083032 RCV000203770 RCV000165441

NM_007294.4(BRCA1):c.3433G>T (p.Val1145Phe)

SNV
Germline

Chr17:43092098

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
BRCA1-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA002222

rs_431825396

9 SubmittersRCV000083033 RCV000199171 RCV000579595 RCV001290658 RCV001357066 RCV004804097

NM_007294.4(BRCA1):c.3437G>A (p.Cys1146Tyr)

SNV
Germline

Chr17:43092094

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA002225

rs_80357247

7 SubmittersRCV000083034 RCV000552093 RCV000572614 RCV000985398

NM_007294.4(BRCA1):c.3774G>T (p.Glu1258Asp)

SNV
Germline

Chr17:43091757

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA002431

rs_431825399

5 SubmittersRCV000083037 RCV002345403 RCV003644904

NM_007294.4(BRCA1):c.3869A>C (p.Lys1290Thr)

SNV
Germline

Chr17:43091662

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
BRCA1-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA002494

rs_431825401

6 SubmittersRCV000083039 RCV000687405 RCV002362735 RCV004804098

NM_007294.4(BRCA1):c.3914A>T (p.Asp1305Val)

SNV
Germline

Chr17:43091617

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified

Criteria Provided
Conflicting Classifications

CA002517

rs_431825402

7 SubmittersRCV000083041 RCV000549261 RCV000775151 RCV002307392

NM_007294.4(BRCA1):c.3944C>G (p.Pro1315Arg)

SNV
Germline

Chr17:43091587

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome
Condition: not provided
BRCA1-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA002530

rs_80357500

11 SubmittersRCV000083042 RCV000131512 RCV000424747 RCV000469729 RCV001284394 RCV004804099

NM_007294.4(BRCA1):c.3955G>A (p.Gly1319Ser)

SNV
Germline

Chr17:43091576

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA002532

rs_431825403

6 SubmittersRCV000083043 RCV000196014 RCV001355094 RCV002371934

NM_007294.4(BRCA1):c.4072G>T (p.Glu1358Ter)

SNV
Germline

Chr17:43091459

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA002602

rs_397509136

6 SubmittersRCV000083045 RCV000496909 RCV000574041

NM_007294.4(BRCA1):c.4185+10G>A

SNV
Germline

Chr17:43090934

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
not specified
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA002679

rs_80358104

9 SubmittersRCV000083048 RCV000421135 RCV000581043 RCV001084169 RCV001281725

NM_007294.4(BRCA1):c.4357+7A>G

SNV
Germline

Chr17:43082397

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast and/or ovarian cancer
not specified
Breast-ovarian cancer, familial, susceptibility to, 1
Fanconi anemia, complementation group S
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA002795

rs_431825407

7 SubmittersRCV000083052 RCV000582878 RCV000637934 RCV001636653 RCV001798285 RCV004586546 RCV005394354

NM_007294.4(BRCA1):c.4986+5G>A

SNV
Germline

Chr17:43070923

Pathogenic/Likely pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Breast carcinoma
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA003124

rs_397509211

9 SubmittersRCV000083057 RCV000197490 RCV001578277 RCV002250559 RCV002345404

NM_007294.4(BRCA1):c.5152+7A>G

SNV
Germline

Chr17:43063867

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
not specified
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA003293

rs_80358046

9 SubmittersRCV000083061 RCV000422346 RCV000559883 RCV000776170 RCV001800393

NM_007294.4(BRCA1):c.5193+1G>A

SNV
Germline

Chr17:43063332

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
not specified
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA003336

rs_80358004

7 SubmittersRCV000083063 RCV001053397 RCV001800394 RCV002336242

NM_007294.4(BRCA1):c.5205A>T (p.Glu1735Asp)

SNV
Germline

Chr17:43057124

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA003354

rs_431825412

4 SubmittersRCV000083064 RCV000205011 RCV005305963

NM_007294.4(BRCA1):c.5276A>G (p.Lys1759Arg)

SNV
Germline

Chr17:43057053

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA003417

rs_431825415

7 SubmittersRCV000083068 RCV000774929 RCV001854450

NM_007294.4(BRCA1):c.5339T>G (p.Leu1780Arg)

SNV
Germline

Chr17:43049188

Likely pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
BRCA1-related cancer predisposition

Reviewed By Expert Panel

CA003509

rs_80357474

7 SubmittersRCV000083070 RCV000567641 RCV002513859 RCV005628798

NM_007294.4(BRCA1):c.5407-10G>A

SNV
Germline

Chr17:43047713

Likely pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
BRCA1-related cancer predisposition
Condition: not provided

Reviewed By Expert Panel

CA003567

rs_273901767

10 SubmittersRCV000083071 RCV001524513 RCV001857403 RCV005415405 RCV006259015

NM_007294.4(BRCA1):c.5467+3A>C

SNV
Germline

Chr17:43047640

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 1
Fanconi anemia, complementation group S
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA003613

rs_431825417

8 SubmittersRCV001072163 RCV001040934 RCV001528434 RCV005364977 RCV005781927

NM_007294.4(BRCA1):c.-19-5T>C

SNV
Germline

Chr17:43124120

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA001300

rs_273898671

3 SubmittersRCV000111501 RCV001189358 RCV001482419

NM_007294.4(BRCA1):c.80+1G>T

SNV
Germline

Chr17:43124016

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA003886

rs_80358010

4 SubmittersRCV000111706 RCV000637548

NM_007294.4(BRCA1):c.80+2T>G

SNV
Germline

Chr17:43124015

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA003887

rs_80358128

8 SubmittersRCV000111707 RCV001027050 RCV001356283 RCV001854520

NM_007294.4(BRCA1):c.80+4A>T

SNV
Germline

Chr17:43124013

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
BRCA1-related cancer predisposition
Condition: not provided

Reviewed By Expert Panel

CA003888

rs_80358003

6 SubmittersRCV000111708 RCV000465110 RCV001027051 RCV005415410 RCV006259016

NM_007294.4(BRCA1):c.80+5G>A

SNV
Germline

Chr17:43124012

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA003889

rs_80358045

5 SubmittersRCV000111709 RCV000165282 RCV005089569

NM_007294.4(BRCA1):c.80+7C>T

SNV
Germline

Chr17:43124010

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified
Malignant tumor of breast
Condition: not provided

Criteria Provided
Conflicting Classifications

CA003892

rs_80358098

7 SubmittersRCV000111710 RCV000936794 RCV001176121 RCV001193744 RCV001354623 RCV001800396

NM_007294.4(BRCA1):c.134+1G>C

SNV
Germline

Chr17:43115725

Pathogenic/Likely pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
not specified
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA000878

rs_80358043

7 SubmittersRCV000111847 RCV000589448 RCV001800397 RCV004019598 RCV005639082

NM_007294.4(BRCA1):c.135-2A>G

SNV
Germline

Chr17:43106535

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA000897

rs_80358065

9 SubmittersRCV000111860 RCV000238811 RCV000509887 RCV001854521

NM_007294.4(BRCA1):c.3776A>C (p.Asn1259Thr)

SNV
Germline

Chr17:43091755

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome
Carcinoma of colon

Criteria Provided
Conflicting Classifications

CA002432

rs_483353090

11 SubmittersRCV000112181 RCV000159849 RCV000771318 RCV000779862 RCV001084247 RCV001357117

NM_007294.4(BRCA1):c.4097-7A>G

SNV
Germline

Chr17:43091039

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
not specified
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA002629

rs_80358007

5 SubmittersRCV000112258 RCV000444439 RCV001479161 RCV001191517

NM_007294.4(BRCA1):c.4675+3A>T

SNV
Germline

Chr17:43074328

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA002961

rs_80358082

5 SubmittersRCV000112378 RCV000496914 RCV000772124

NM_007294.4(BRCA1):c.4676-1G>A

SNV
Germline

Chr17:43071239

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast and/or ovarian cancer
BRCA1-related cancer predisposition
Familial cancer of breast

Reviewed By Expert Panel

CA002968

rs_80358008

10 SubmittersRCV000112381 RCV000205534 RCV000563564 RCV001271028 RCV004804104 RCV005887831

NM_007294.4(BRCA1):c.4676-2A>G

SNV
Germline

Chr17:43071240

Pathogenic/Likely pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA002969

rs_80358096

5 SubmittersRCV000112382 RCV000131824 RCV000477221 RCV000480901

NM_007294.4(BRCA1):c.4730C>A (p.Ser1577Tyr)

SNV
Germline

Chr17:43071184

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA002996

rs_273901741

11 SubmittersRCV000112390 RCV000509888 RCV000589804 RCV000691967

NM_007294.4(BRCA1):c.4986+1G>A

SNV
Germline

Chr17:43070927

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA003118

rs_80358162

6 SubmittersRCV000112442 RCV000802713 RCV004595922 RCV005298445

NM_007294.4(BRCA1):c.4987-11T>C

SNV
Germline

Chr17:43067706

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
not specified
Hereditary cancer-predisposing syndrome
Malignant tumor of breast
Condition: not provided
BRCA1-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA003129

rs_80358170

8 SubmittersRCV000112445 RCV000196687 RCV000429981 RCV000773180 RCV001354485 RCV001711198 RCV004804105

NM_007294.4(BRCA1):c.5075-1G>C

SNV
Germline

Chr17:43063952

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA003205

rs_1800747

6 SubmittersRCV000112486 RCV001036909 RCV003298139

NM_007294.4(BRCA1):c.5152+1G>A

SNV
Germline

Chr17:43063873

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA003279

rs_80358094

8 SubmittersRCV000112514 RCV000222947 RCV000798093

NM_007294.4(BRCA1):c.5152+6T>A

SNV
Germline

Chr17:43063868

Likely pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome

Criteria Provided
Single Submitter

CA003290

rs_80358074

3 SubmittersRCV000112522 RCV001854522

NM_007294.4(BRCA1):c.5152+6T>C

SNV
Germline

Chr17:43063868

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
BRCA1-related cancer predisposition

Reviewed By Expert Panel

CA003291

rs_80358074

8 SubmittersRCV000112523 RCV000687321 RCV001525568 RCV005415411

NM_007294.4(BRCA1):c.5152+6T>G

SNV
Germline

Chr17:43063868

Pathogenic/Likely pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA003292

rs_80358074

7 SubmittersRCV000112524 RCV001023624 RCV001211670 RCV004998229

NM_007294.4(BRCA1):c.5153-26A>G

SNV
Germline

Chr17:43063399

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Pancreatic cancer, susceptibility to, 4
Breast-ovarian cancer, familial, susceptibility to, 1
Fanconi anemia, complementation group S
Inherited ovarian cancer (without breast cancer)

Criteria Provided
Conflicting Classifications

CA003299

rs_80358109

11 SubmittersRCV000112532 RCV001253796 RCV002336244 RCV003607239 RCV005016382 RCV006555441

NM_007294.4(BRCA1):c.5194-1G>A

SNV
Germline

Chr17:43057136

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome

Criteria Provided
Single Submitter

CA003345

rs_80358173

3 SubmittersRCV000112558 RCV000780800

NM_007294.4(BRCA1):c.5332+2T>A

SNV
Germline

Chr17:43051061

Pathogenic/Likely pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA003487

rs_80358182

6 SubmittersRCV000112616 RCV001224781 RCV001182077

NM_007294.4(BRCA1):c.5332+4A>G

SNV
Germline

Chr17:43051059

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA003490

rs_80358166

11 SubmittersRCV000112618 RCV000131936 RCV000160005 RCV000807389

NM_007294.4(BRCA1):c.5333-8C>T

SNV
Germline

Chr17:43049202

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Malignant tumor of breast
Condition: not provided
Breast and/or ovarian cancer
BRCA1-related disorder

Criteria Provided
Conflicting Classifications

CA003502

rs_80358084

15 SubmittersRCV000112623 RCV000233774 RCV000582283 RCV000501072 RCV000587578 RCV003149774 RCV004554706

NM_007294.4(BRCA1):c.5406+9T>C

SNV
Germline

Chr17:43049112

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast and/or ovarian cancer

Criteria Provided
Conflicting Classifications

CA003566

rs_80358040

6 SubmittersRCV000112641 RCV000541608 RCV001284554 RCV001798288

NM_007294.4(BRCA1):c.5407-1G>A

SNV
Germline

Chr17:43047704

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Malignant tumor of breast
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA003569

rs_80358029

9 SubmittersRCV000112642 RCV000496433 RCV001024050 RCV001353913 RCV002477263

NM_007294.4(BRCA1):c.5407-1G>C

SNV
Germline

Chr17:43047704

Pathogenic/Likely pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA003570

rs_80358029

7 SubmittersRCV000112643 RCV000481406 RCV001024051 RCV001193745

NM_007294.4(BRCA1):c.5467+2T>C

SNV
Germline

Chr17:43047641

Pathogenic/Likely pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA003611

rs_80358009

6 SubmittersRCV000112659 RCV000162889 RCV000586131

NM_007294.4(BRCA1):c.5467+2T>G

SNV
Germline

Chr17:43047641

Pathogenic/Likely pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA003612

rs_80358009

4 SubmittersRCV000112660 RCV001051199 RCV005520240

NM_007294.4(BRCA1):c.5468-17G>A

SNV
Germline

Chr17:43045819

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA003621

rs_80358176

3 SubmittersRCV000112664 RCV000774926 RCV002514561

NM_007294.4(BRCA1):c.5468-18T>A

SNV
Germline

Chr17:43045820

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
not specified
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA003622

rs_80358157

4 SubmittersRCV000112665 RCV000430492 RCV000476139 RCV003352771

NM_007294.4(BRCA1):c.5468-1G>A

SNV
Germline

Chr17:43045803

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Reviewed By Expert Panel

CA003623

rs_80358048

12 SubmittersRCV000112666 RCV000457753 RCV001171440 RCV003162525 RCV004696849

NM_007294.4(BRCA1):c.547+1G>A

SNV
Germline

Chr17:43099774

Pathogenic/Likely pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA003632

rs_80358030

9 SubmittersRCV000112729 RCV000533400 RCV000570102 RCV001781438

NM_007294.4(BRCA1):c.548-12G>A

SNV
Germline

Chr17:43097301

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA003643

rs_80358164

5 SubmittersRCV000112732 RCV000940577 RCV001180528 RCV001588922 RCV005237543

NM_007294.4(BRCA1):c.548-16G>A

SNV
Germline

Chr17:43097305

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
not specified
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA003647

rs_80358171

4 SubmittersRCV000112734 RCV000417653 RCV000467842 RCV005305964

NM_007294.4(BRCA1):c.671-1G>T

SNV
Germline

Chr17:43094861

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA003805

rs_80358020

10 SubmittersRCV000112766 RCV000131864 RCV000496515 RCV001580455 RCV002250562

NM_000059.4(BRCA2):c.1401G>C (p.Lys467Asn)

SNV
Germline

Chr13:32332879

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA011917

rs_276174808

6 SubmittersRCV000112917 RCV000587440 RCV000545323 RCV001188331

NM_000059.4(BRCA2):c.1504A>C (p.Lys502Gln)

SNV
Germline

Chr13:32332982

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA012258

rs_276174809

8 SubmittersRCV000112928 RCV000160038 RCV000223354 RCV000637723

NM_000059.4(BRCA2):c.-14T>C

SNV
Germline

Chr13:32316447

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
not specified
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA012248

rs_276174796

5 SubmittersRCV000112995 RCV000437674 RCV000773254 RCV001456348

NM_000059.4(BRCA2):c.-12T>C

SNV
Germline

Chr13:32316449

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA011494

rs_276174795

5 SubmittersRCV000112999 RCV000586575 RCV000776392 RCV001089418

NM_000059.4(BRCA2):c.2629C>G (p.Pro877Ala)

SNV
Germline

Chr13:32336984

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified

Criteria Provided
Conflicting Classifications

CA015892

rs_80358524

9 SubmittersRCV000113071 RCV000483653 RCV000556749 RCV000570550 RCV000780044

NM_000059.4(BRCA2):c.2836G>C (p.Asp946His)

SNV
Germline

Chr13:32337191

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
not specified

Criteria Provided
Conflicting Classifications

CA016576

rs_80358534

7 SubmittersRCV000113100 RCV000222307 RCV000586610 RCV000637635 RCV006456707

NM_000059.4(BRCA2):c.2957A>T (p.Asn986Ile)

SNV
Germline

Chr13:32337312

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA016904

rs_28897718

6 SubmittersRCV000113120 RCV000566118 RCV000679164 RCV000703734

NM_000059.4(BRCA2):c.2978G>A (p.Trp993Ter)

SNV
Germline

Chr13:32337333

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
BRCA2-related disorder
Familial cancer of breast

Reviewed By Expert Panel

CA016937

rs_80358543

12 SubmittersRCV000113124 RCV000485157 RCV000637724 RCV001184520 RCV001849311 RCV003460790

NM_000059.4(BRCA2):c.3446T>C (p.Met1149Thr)

SNV
Germline

Chr13:32337801

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA018041

rs_80358590

11 SubmittersRCV000113177 RCV000213389 RCV001321107 RCV003229809

NM_000059.4(BRCA2):c.3526G>A (p.Val1176Ile)

SNV
Germline

Chr13:32337881

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA018256

rs_80358602

8 SubmittersRCV000113189 RCV000221053 RCV000637690 RCV003477487 RCV004804106

NM_000059.4(BRCA2):c.3999C>G (p.Asn1333Lys)

SNV
Germline

Chr13:32338354

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
8 conditions

Criteria Provided
Conflicting Classifications

CA019346

rs_80358649

7 SubmittersRCV000113256 RCV000637386 RCV001176138 RCV005003471

NM_000059.4(BRCA2):c.4027A>G (p.Lys1343Glu)

SNV
Germline

Chr13:32338382

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA019411

rs_483353114

6 SubmittersRCV000113262 RCV000563477 RCV000820321 RCV006272367

NM_000059.4(BRCA2):c.4417A>G (p.Asn1473Asp)

SNV
Germline

Chr13:32338772

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA020152

rs_80358675

5 SubmittersRCV000113301 RCV000216560 RCV002298472 RCV003764805

NM_000059.4(BRCA2):c.4478A>G (p.Glu1493Gly)

SNV
Germline

Chr13:32338833

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
8 conditions
not specified
BRCA2-related cancer predisposition
BRCA2-related disorder

Criteria Provided
Conflicting Classifications

CA020265

rs_80358679

12 SubmittersRCV000113308 RCV000218014 RCV000509781 RCV000556739 RCV000763887 RCV001553670 RCV004804108 RCV004732684

NM_000059.4(BRCA2):c.4535G>C (p.Arg1512Pro)

SNV
Germline

Chr13:32338890

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
not specified
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA020353

rs_80358685

7 SubmittersRCV000113314 RCV000507478 RCV001022661 RCV001854525

NM_000059.4(BRCA2):c.5153A>G (p.Asn1718Ser)

SNV
Germline

Chr13:32339508

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified

Criteria Provided
Conflicting Classifications

CA021401

rs_80358739

11 SubmittersRCV000113388 RCV000486901 RCV000570495 RCV000801842 RCV002281930

NM_000059.4(BRCA2):c.5378A>G (p.Asn1793Ser)

SNV
Germline

Chr13:32339733

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
not specified
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA022157

rs_80358759

10 SubmittersRCV000113424 RCV000226446 RCV000612467 RCV000573455

NM_000059.4(BRCA2):c.5682C>A (p.Tyr1894Ter)

SNV
Germline

Chr13:32340037

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Familial cancer of breast
Familial pancreatic carcinoma

Reviewed By Expert Panel

CA022957

rs_41293497

11 SubmittersRCV000113461 RCV000131119 RCV000496632 RCV000506842 RCV003474700 RCV005359036

NM_000059.4(BRCA2):c.5686G>C (p.Ala1896Pro)

SNV
Germline

Chr13:32340041

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA022980

rs_80358795

4 SubmittersRCV000113462 RCV000818625 RCV002345410

NM_000059.4(BRCA2):c.5710C>T (p.Leu1904Phe)

SNV
Germline

Chr13:32340065

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA023027

rs_55875643

7 SubmittersRCV000113465 RCV000522965 RCV002345411 RCV003105789 RCV005359037

NM_000059.4(BRCA2):c.5743A>G (p.Thr1915Ala)

SNV
Germline

Chr13:32340098

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA023129

rs_80358802

4 SubmittersRCV000113475 RCV000160099 RCV001854527 RCV003157405

NM_000059.4(BRCA2):c.5768A>T (p.Asp1923Val)

SNV
Germline

Chr13:32340123

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA023194

rs_45491005

5 SubmittersRCV000113480 RCV000220914 RCV001024502 RCV001854528

NM_000059.4(BRCA2):c.5848G>A (p.Val1950Ile)

SNV
Germline

Chr13:32340203

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA023298

rs_80358813

3 SubmittersRCV000113493 RCV003157406 RCV006612218

NM_000059.4(BRCA2):c.5987C>T (p.Ala1996Val)

SNV
Germline

Chr13:32340342

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified

Criteria Provided
Conflicting Classifications

CA023465

rs_80358834

5 SubmittersRCV000113516 RCV002354288 RCV003764806 RCV006456708

NM_000059.4(BRCA2):c.6058G>A (p.Glu2020Lys)

SNV
Germline

Chr13:32340413

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome
Condition: not provided
Malignant tumor of breast

Criteria Provided
Conflicting Classifications

CA023575

rs_80358842

15 SubmittersRCV000113521 RCV000129466 RCV000160106 RCV000471466 RCV000587558 RCV001354010

NM_000059.4(BRCA2):c.6645C>G (p.Tyr2215Ter)

SNV
Germline

Chr13:32341000

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Familial cancer of breast
Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Pancreatic cancer, susceptibility to, 2

Reviewed By Expert Panel

CA024254

rs_80358892

9 SubmittersRCV000113621 RCV000490731 RCV000690837 RCV000657768 RCV001025493 RCV005364987

NM_000059.4(BRCA2):c.7505G>C (p.Arg2502Pro)

SNV
Germline

Chr13:32356497

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
not specified
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA025122

rs_56070345

5 SubmittersRCV000113770 RCV000697931 RCV000781093 RCV002390253

NM_000059.4(BRCA2):c.7977-1G>T

SNV
Germline

Chr13:32363178

Pathogenic/Likely pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA025373

rs_81002874

4 SubmittersRCV000113850 RCV000197791 RCV000580992

NM_000059.4(BRCA2):c.8188G>C (p.Ala2730Pro)

SNV
Germline

Chr13:32363390

Likely pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Familial cancer of breast
BRCA2-related cancer predisposition

Reviewed By Expert Panel

CA025499

rs_80359066

11 SubmittersRCV000113886 RCV000131217 RCV000456410 RCV000586658 RCV003460792 RCV006276070

NM_000059.4(BRCA2):c.8525G>T (p.Arg2842Leu)

SNV
Germline

Chr13:32370993

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
not specified

Criteria Provided
Conflicting Classifications

CA025693

rs_80359105

7 SubmittersRCV000113954 RCV000130831 RCV000176023 RCV000526300 RCV001175445

NM_000059.4(BRCA2):c.8969G>A (p.Trp2990Ter)

SNV
Germline

Chr13:32379765

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Familial cancer of breast

Reviewed By Expert Panel

CA025903

rs_80359148

9 SubmittersRCV000114025 RCV000131050 RCV000425086 RCV000637796 RCV003474704

NM_000059.4(BRCA2):c.9082G>C (p.Ala3028Pro)

SNV
Germline

Chr13:32379878

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary breast ovarian cancer syndrome
Fanconi anemia complementation group D1
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA025963

rs_80359161

9 SubmittersRCV000129295 RCV000114042 RCV000758971 RCV001055261 RCV001568367 RCV003460793

NM_000059.4(BRCA2):c.9227G>T (p.Gly3076Val)

SNV
Germline

Chr13:32380116

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
BRCA2-related cancer predisposition

Reviewed By Expert Panel

CA026041

rs_80359187

8 SubmittersRCV000114070 RCV000130070 RCV000472340 RCV004566991

NM_000059.4(BRCA2):c.9401G>T (p.Gly3134Val)

SNV
Germline

Chr13:32394833

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA026142

rs_80359215

6 SubmittersRCV000114104 RCV000254758 RCV000472619 RCV001019281 RCV003474706

NM_024675.4(PALB2):c.1001A>G (p.Tyr334Cys)

SNV
Germline

Chr16:23635545

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary cancer
not specified
Breast and/or ovarian cancer
Hereditary breast ovarian cancer syndrome
PALB2-related disorder
Breast-ovarian cancer, familial, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA288383

rs_200620434

22 SubmittersRCV000114449 RCV000116060 RCV000212784 RCV000415191 RCV000781695 RCV001798290 RCV003483471 RCV004529916 RCV005359039

NM_024675.4(PALB2):c.1027C>T (p.Gln343Ter)

SNV
Germline

Chr16:23635519

Pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 5

Criteria Provided
Multiple Submitters
No Conflicts

CA151215

rs_180177097

10 SubmittersRCV000215551 RCV001030193 RCV001040014 RCV003155912 RCV005053906

NM_024675.4(PALB2):c.1250C>A (p.Ser417Tyr)

SNV
Germline

Chr16:23635296

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Hereditary breast ovarian cancer syndrome
PALB2-related disorder
Fanconi anemia complementation group N
Breast-ovarian cancer, familial, susceptibility to, 5
Pancreatic cancer, susceptibility to, 3

Criteria Provided
Conflicting Classifications

CA288398

rs_45510998

21 SubmittersRCV000114466 RCV000116065 RCV000590540 RCV001255214 RCV003483472 RCV004739371 RCV005394371

NM_024675.4(PALB2):c.196C>T (p.Gln66Ter)

SNV
Germline

Chr16:23637865

Pathogenic/Likely pathogenic

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Breast and/or ovarian cancer
Inherited breast cancer and ovarian cancer
Fanconi anemia complementation group N
Breast-ovarian cancer, familial, susceptibility to, 5
Pancreatic cancer, susceptibility to, 3

Criteria Provided
Multiple Submitters
No Conflicts

CA187393

rs_180177083

19 SubmittersRCV000114503 RCV000163078 RCV000235795 RCV000588616 RCV001798296 RCV005862978 RCV005016383

NM_024675.4(PALB2):c.2323C>T (p.Gln775Ter)

SNV
Germline

Chr16:23629831

Pathogenic

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
Malignant tumor of breast
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 5

Criteria Provided
Multiple Submitters
No Conflicts

CA192039

rs_180177111

13 SubmittersRCV000114521 RCV000164897 RCV000413982 RCV001355683 RCV003155914 RCV005053908

NM_024675.4(PALB2):c.23C>T (p.Pro8Leu)

SNV
Germline

Chr16:23641135

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
PALB2-related disorder
Breast-ovarian cancer, familial, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA299799

rs_150390726

14 SubmittersRCV000114527 RCV000160872 RCV000589826 RCV002225301 RCV004529922 RCV005359045

NM_024675.4(PALB2):c.2718G>A (p.Trp906Ter)

SNV
Germline

Chr16:23626266

Pathogenic/Likely pathogenic

Familial cancer of breast
Condition: not provided
Hereditary cancer-predisposing syndrome
Pancreatic cancer, susceptibility to, 3
Fanconi anemia complementation group N
Familial cancer of breast
Hereditary breast ovarian cancer syndrome
Pancreatic cancer, susceptibility to, 3
Fanconi anemia complementation group N
Breast-ovarian cancer, familial, susceptibility to, 5
Inherited breast cancer and ovarian cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA269561

rs_180177122

15 SubmittersRCV000114552 RCV000255170 RCV000562748 RCV002498481 RCV004782240 RCV005394374 RCV006605224

NM_024675.4(PALB2):c.2749-18C>T

SNV
Germline

Chr16:23624112

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Breast and/or ovarian cancer
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA269568

rs_182194007

13 SubmittersRCV000114555 RCV000127298 RCV000212817 RCV000679766 RCV003149784 RCV004764763

NM_024675.4(PALB2):c.2816T>G (p.Leu939Trp)

SNV
Germline

Chr16:23624027

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group N
not specified
Condition: not provided
Breast and/or ovarian cancer
Malignant tumor of breast
PALB2-related disorder
Hereditary breast ovarian cancer syndrome
Monogenic short stature

Criteria Provided
Conflicting Classifications

CA151239

rs_45478192

36 SubmittersRCV000114561 RCV000116092 RCV000306515 RCV000417395 RCV000586156 RCV001170349 RCV001356702 RCV004528790 RCV004760375 RCV006629078

NM_024675.4(PALB2):c.3113G>A (p.Trp1038Ter)

SNV
Germline

Chr16:23621362

Pathogenic

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Pancreatic cancer, susceptibility to, 3
Malignant tumor of breast
Fanconi anemia complementation group N
Breast and/or ovarian cancer
Breast-ovarian cancer, familial, susceptibility to, 5
PALB2-related disorder
NICE approved PARP inhibitor treatment
Inherited breast cancer and ovarian cancer
Inherited ovarian cancer (without breast cancer)
Breast-ovarian cancer, familial, susceptibility to, 5
Pancreatic cancer, susceptibility to, 3
Fanconi anemia complementation group N
Gastric cancer
PALB2-related cancer predisposition
Breast-ovarian cancer, familial, susceptibility to, 5
Pancreatic cancer, susceptibility to, 3
Fanconi anemia complementation group N
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA251004

rs_180177132

38 SubmittersRCV000114591 RCV000116096 RCV000212822 RCV000588093 RCV001171469 RCV001535480 RCV003492443 RCV003389455 RCV004528792 RCV004577322 RCV004584191 RCV004584192 RCV005016387 RCV005887874 RCV005639030 RCV006253795

NM_024675.4(PALB2):c.315G>C (p.Glu105Asp)

SNV
Germline

Chr16:23636231

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Fanconi anemia complementation group N
Familial cancer of breast
Pancreatic cancer, susceptibility to, 3
PALB2-related disorder
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA288463

rs_515726108

17 SubmittersRCV000114600 RCV000116099 RCV000212773 RCV001174951 RCV002490766 RCV004529924 RCV005359049

NM_024675.4(PALB2):c.3256C>T (p.Arg1086Ter)

SNV
Germline

Chr16:23607958

Pathogenic/Likely pathogenic

Pancreatic cancer, susceptibility to, 3
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Hereditary breast ovarian cancer syndrome
Malignant tumor of breast
Gastric cancer
Breast-ovarian cancer, familial, susceptibility to, 5
Breast and/or ovarian cancer
PALB2-related disorder
Breast-ovarian cancer, familial, susceptibility to, 5
Pancreatic cancer, susceptibility to, 3
Fanconi anemia complementation group N
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Multiple Submitters
No Conflicts

CA211207

rs_587776527

26 SubmittersRCV000114612 RCV000160853 RCV000168017 RCV000212825 RCV001030644 RCV002307393 RCV003162531 RCV003315406 RCV003149788 RCV004528793 RCV005003472 RCV005861051

NM_024675.4(PALB2):c.3307G>A (p.Val1103Met)

SNV
Germline

Chr16:23607907

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Hereditary breast ovarian cancer syndrome
PALB2-related disorder
Breast-ovarian cancer, familial, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA288475

rs_201657283

16 SubmittersRCV000114616 RCV000116103 RCV000212827 RCV000656941 RCV001030643 RCV004739378 RCV005359050

NM_024675.4(PALB2):c.400G>A (p.Asp134Asn)

SNV
Germline

Chr16:23636146

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Breast and/or ovarian cancer
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA163622

rs_139555085

17 SubmittersRCV000114637 RCV000128994 RCV000200990 RCV000590187 RCV001798302 RCV002225308

NM_024675.4(PALB2):c.53A>G (p.Lys18Arg)

SNV
Germline

Chr16:23638125

Conflicting classifications of pathogenicity

Familial cancer of breast
not specified
Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group N
Condition: not provided
Hereditary breast ovarian cancer syndrome
Sarcoma
Uterine corpus endometrial carcinoma
Acute myeloid leukemia
Malignant tumor of esophagus
Cervical cancer

Criteria Provided
Conflicting Classifications

CA161315

rs_138789658

26 SubmittersRCV000114647 RCV000121743 RCV000129207 RCV000376271 RCV000440737 RCV002225309 RCV005887879 RCV005887880 RCV005887876 RCV005887877 RCV005887878

NM_024675.4(PALB2):c.629C>T (p.Pro210Leu)

SNV
Germline

Chr16:23635917

Conflicting classifications of pathogenicity

Familial cancer of breast
not specified
Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group N
Malignant tumor of breast
Condition: not provided
Hereditary breast ovarian cancer syndrome
Breast and/or ovarian cancer

Criteria Provided
Conflicting Classifications

CA161333

rs_57605939

24 SubmittersRCV000114650 RCV000121750 RCV000131969 RCV000306267 RCV001358034 RCV001705820 RCV002225310 RCV001798303

NM_007194.4(CHEK2):c.1421G>A (p.Arg474His)

SNV
Germline

Chr22:28694072

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast
CHEK2-related cancer predisposition
Breast and/or ovarian cancer
CHEK2-related disorder
Hereditary breast ovarian cancer syndrome
not specified
Predisposition to cancer
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA230684

rs_121908706

24 SubmittersRCV000114766 RCV000116000 RCV000206096 RCV003387763 RCV003492448 RCV004737196 RCV004804112 RCV004700414 RCV005600661 RCV005861052

NM_000051.4(ATM):c.125A>G (p.His42Arg)

SNV
Germline

Chr11:108227828

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Ataxia-telangiectasia syndrome
Hereditary breast ovarian cancer syndrome
Malignant tumor of breast
Condition: not provided
Familial cancer of breast
Ovarian cancer
Breast and/or ovarian cancer
ATM-related disorder

Criteria Provided
Conflicting Classifications

CA286723

rs_201773026

16 SubmittersRCV000115139 RCV000211940 RCV000231946 RCV001030450 RCV001358550 RCV001719857 RCV003315633 RCV003153366 RCV003492452 RCV004739385

NM_000051.4(ATM):c.1516G>T (p.Gly506Cys)

SNV
Germline

Chr11:108250981

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided
Familial cancer of breast
Ataxia-telangiectasia syndrome
not specified
Familial cancer of breast
Breast and/or ovarian cancer
ATM-related disorder
ATM-related cancer predisposition
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA286732

rs_587779816

19 SubmittersRCV000115143 RCV000168231 RCV000211963 RCV000515225 RCV001818258 RCV003237336 RCV003149791 RCV004549539 RCV005359062 RCV005600662 RCV005623302

NM_000051.4(ATM):c.1810C>T (p.Pro604Ser)

SNV
Germline

Chr11:108252824

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Ataxia-telangiectasia syndrome
Condition: not provided
Familial cancer of breast
Malignant tumor of breast
Hereditary breast ovarian cancer syndrome
Breast and/or ovarian cancer
ATM-related disorder

Criteria Provided
Conflicting Classifications

CA157068

rs_2227922

40 SubmittersRCV000115147 RCV000120119 RCV000122824 RCV000590282 RCV001197813 RCV001356948 RCV001374543 RCV001798309 RCV004549541

NM_000051.4(ATM):c.3175G>A (p.Ala1059Thr)

SNV
Germline

Chr11:108272743

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Ataxia-telangiectasia syndrome
Ataxia-telangiectasia syndrome
not specified
Hereditary breast ovarian cancer syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA204829

rs_370282831

10 SubmittersRCV000115172 RCV000211995 RCV000515253 RCV000465718 RCV000779787 RCV001249849 RCV003467024

NM_000051.4(ATM):c.320G>A (p.Cys107Tyr)

SNV
Germline

Chr11:108229312

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast
Ataxia-telangiectasia syndrome
Condition: not provided
Malignant tumor of breast
not specified
Hereditary breast ovarian cancer syndrome
ATM-related disorder
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA286800

rs_142358238

19 SubmittersRCV000115173 RCV000198992 RCV000515352 RCV000589242 RCV001357199 RCV001260261 RCV002225317 RCV004549546 RCV004589561

NM_000051.4(ATM):c.334G>A (p.Ala112Thr)

SNV
Germline

Chr11:108235672

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
not specified
Familial cancer of breast
Ataxia-telangiectasia syndrome
Condition: not provided
Malignant tumor of breast
Hereditary breast ovarian cancer syndrome
ATM-related disorder
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA286806

rs_146382972

17 SubmittersRCV000115175 RCV000195412 RCV000211948 RCV000515264 RCV000588561 RCV001354149 RCV002225318 RCV004549547 RCV004589562

NM_000051.4(ATM):c.4324T>C (p.Tyr1442His)

SNV
Germline

Chr11:108289689

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast
Ataxia-telangiectasia syndrome
Condition: not provided
not specified
Familial cancer of breast
Malignant tumor of breast
Breast and/or ovarian cancer
Hereditary breast ovarian cancer syndrome
ATM-related disorder

Criteria Provided
Conflicting Classifications

CA286840

rs_201666889

26 SubmittersRCV000115190 RCV000168302 RCV000515173 RCV000586538 RCV000855627 RCV001257491 RCV001355810 RCV003149793 RCV003482131 RCV004549551

NM_000051.4(ATM):c.4362A>C (p.Lys1454Asn)

SNV
Germline

Chr11:108289727

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Ataxia-telangiectasia syndrome
not specified
Familial cancer of breast
ATM-related disorder
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA286843

rs_148993589

20 SubmittersRCV000115191 RCV000212012 RCV001080906 RCV001193007 RCV001257478 RCV004739391 RCV005600665

NM_000051.4(ATM):c.4375G>A (p.Gly1459Arg)

SNV
Germline

Chr11:108289740

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast
Ataxia-telangiectasia syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
not specified
Familial cancer of breast
ATM-related disorder
ATM-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA286846

rs_145667735

20 SubmittersRCV000115192 RCV000196015 RCV000515274 RCV000586694 RCV001249852 RCV001824608 RCV003460803 RCV004549552 RCV005359066

NM_000051.4(ATM):c.4402G>A (p.Val1468Ile)

SNV
Germline

Chr11:108289767

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Ataxia-telangiectasia syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Familial cancer of breast
ATM-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA157119

rs_369903995

17 SubmittersRCV000115194 RCV000120138 RCV000199082 RCV000656760 RCV001249853 RCV003467026 RCV005359067

NM_000051.4(ATM):c.4414T>G (p.Leu1472Val)

SNV
Germline

Chr11:108289779

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast
Ataxia-telangiectasia syndrome
Condition: not provided
Familial cancer of breast
Hereditary breast ovarian cancer syndrome
not specified
Hereditary cancer
ATM-related disorder

Criteria Provided
Conflicting Classifications

CA286849

rs_539676759

20 SubmittersRCV000115195 RCV000206408 RCV000515407 RCV000588453 RCV001257473 RCV002225319 RCV002509222 RCV003492458 RCV004739392

NM_000051.4(ATM):c.4709T>C (p.Val1570Ala)

SNV
Germline

Chr11:108293410

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
not specified
Condition: not provided
Familial cancer of breast
Malignant tumor of breast
Breast and/or ovarian cancer
ATM-related disorder
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA286861

rs_140856217

35 SubmittersRCV000115199 RCV000122851 RCV000212021 RCV000586056 RCV001197709 RCV001354496 RCV001798317 RCV004549555 RCV005859333

NM_000051.4(ATM):c.5089A>G (p.Thr1697Ala)

SNV
Germline

Chr11:108299797

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided
Familial cancer of breast
Ataxia-telangiectasia syndrome
not specified
Malignant tumor of breast
Breast and/or ovarian cancer
Hereditary breast ovarian cancer syndrome
ATM-related disorder
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA286873

rs_142455912

14 SubmittersRCV000115205 RCV000200336 RCV000212027 RCV000515379 RCV000779803 RCV001354115 RCV001798319 RCV002225320 RCV004549556 RCV004589568

NM_000051.4(ATM):c.5185G>C (p.Val1729Leu)

SNV
Germline

Chr11:108301655

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided
Familial cancer of breast
not specified
ATM-related disorder
Inherited breast cancer and ovarian cancer
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA286876

rs_3092907

25 SubmittersRCV000115206 RCV000204511 RCV000589866 RCV001262810 RCV002307394 RCV004739393 RCV005644520 RCV005251062

NM_000051.4(ATM):c.5975A>C (p.Lys1992Thr)

SNV
Germline

Chr11:108312467

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
not specified
Condition: not provided
Familial cancer of breast
Ataxia-telangiectasia syndrome
Malignant tumor of breast
Breast and/or ovarian cancer
Hereditary breast ovarian cancer syndrome
Hereditary cancer
ATM-related disorder
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA286913

rs_150757822

30 SubmittersRCV000115220 RCV000122863 RCV000212036 RCV000588284 RCV000515391 RCV001358376 RCV003492461 RCV003482132 RCV003492462 RCV004549560 RCV004589569

NM_000051.4(ATM):c.6067G>A (p.Gly2023Arg)

SNV
Germline

Chr11:108315883

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Ataxia-telangiectasia syndrome
Condition: not provided
Familial cancer of breast
Malignant tumor of breast
Breast and/or ovarian cancer
Tip-toe gait
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA157150

rs_11212587

33 SubmittersRCV000115221 RCV000120151 RCV000122864 RCV000513642 RCV001253480 RCV001356569 RCV001798320 RCV002225322 RCV002225321

NM_000051.4(ATM):c.6176C>T (p.Thr2059Ile)

SNV
Germline

Chr11:108316091

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
not specified
Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer
ATM-related disorder
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA286928

rs_144761622

16 SubmittersRCV000115226 RCV000196722 RCV000212040 RCV000588663 RCV002225323 RCV003492463 RCV004549562 RCV004589570

NM_000051.4(ATM):c.6543G>T (p.Glu2181Asp)

SNV
Germline

Chr11:108321391

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
not specified
Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer
ATM-related disorder
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA286937

rs_138828590

16 SubmittersRCV000115230 RCV000196735 RCV000212044 RCV000587205 RCV002225324 RCV003492464 RCV004549564 RCV004589571

NM_000051.4(ATM):c.6860G>C (p.Gly2287Ala)

SNV
Germline

Chr11:108326110

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided
Familial cancer of breast
Breast and/or ovarian cancer
not specified
ATM-related disorder
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA286944

rs_1800061

22 SubmittersRCV000115233 RCV000168356 RCV000588207 RCV000757936 RCV001798322 RCV002281932 RCV004549565 RCV005411337

NM_000051.4(ATM):c.6988C>G (p.Leu2330Val)

SNV
Germline

Chr11:108327657

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
not specified
Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer
ATM-related disorder
Familial cancer of breast
Familial colorectal cancer type X

Criteria Provided
Conflicting Classifications

CA286954

rs_148432863

24 SubmittersRCV000115238 RCV000122882 RCV000212054 RCV000587802 RCV002225325 RCV003492466 RCV004549566 RCV004589572 RCV005359069

NM_000051.4(ATM):c.7187C>G (p.Thr2396Ser)

SNV
Germline

Chr11:108329118

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided
not specified
Breast and/or ovarian cancer
Familial cancer of breast
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA286969

rs_370559102

22 SubmittersRCV000115243 RCV000198387 RCV000487700 RCV000855569 RCV001798324 RCV002291558 RCV005859334

NM_000051.4(ATM):c.7313C>T (p.Thr2438Ile)

SNV
Germline

Chr11:108330219

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast
Ataxia-telangiectasia syndrome
Condition: not provided
Malignant tumor of breast
not specified
Hereditary breast ovarian cancer syndrome
ATM-related disorder
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA286975

rs_147604227

16 SubmittersRCV000115246 RCV000200256 RCV000515201 RCV000589408 RCV001354272 RCV001260260 RCV002225326 RCV004549569 RCV004589575

NM_000051.4(ATM):c.7475T>G (p.Leu2492Arg)

SNV
Germline

Chr11:108330381

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided
Familial cancer of breast
not specified
Astroblastoma, MN1-altered
ATM-related disorder
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA286990

rs_56399857

30 SubmittersRCV000115252 RCV000195623 RCV000488003 RCV000786770 RCV000780920 RCV003325459 RCV004739397 RCV006451843

NM_000051.4(ATM):c.9086G>A (p.Gly3029Asp)

SNV
Germline

Chr11:108365423

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided
not specified
Hereditary breast ovarian cancer syndrome
Malignant tumor of breast
Ataxia-telangiectasia syndrome
Familial cancer of breast
Breast and/or ovarian cancer
ATM-related disorder

Criteria Provided
Conflicting Classifications

CA287042

rs_201199629

27 SubmittersRCV000115274 RCV000198158 RCV000212098 RCV000780893 RCV001374551 RCV001535462 RCV002288591 RCV003492468 RCV004549574

NM_000051.4(ATM):c.998C>T (p.Ser333Phe)

SNV
Germline

Chr11:108247060

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Ataxia-telangiectasia syndrome
Familial cancer of breast
Breast and/or ovarian cancer
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA157204

rs_28904919

32 SubmittersRCV000115277 RCV000120169 RCV000586032 RCV000988648 RCV001262803 RCV001798328 RCV002225327

NM_000136.3(FANCC):c.1001G>A (p.Arg334Gln)

SNV
Germline

Chr9:95117386

Conflicting classifications of pathogenicity

Condition: not provided
Fanconi anemia
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA287178

rs_377468919

5 SubmittersRCV000115339 RCV000630863 RCV001030468 RCV001009634

NM_000179.3(MSH6):c.3758T>A (p.Val1253Glu)

SNV
Germline

Chr2:47806315

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
not specified
Condition: not provided
Lynch syndrome 5
Malignant tumor of breast
Lynch syndrome
Endometrial carcinoma
MSH6-related disorder
Endometrial carcinoma
Lynch syndrome 5
Mismatch repair cancer syndrome 3
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA014183

rs_202066386

20 SubmittersRCV000115421 RCV000196523 RCV000212688 RCV000656901 RCV001139791 RCV001355140 RCV003997251 RCV003467041 RCV004739400 RCV005031605 RCV006449995

NM_000249.4(MLH1):c.1572G>C (p.Met524Ile)

SNV
Germline

Chr3:37040199

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Colorectal cancer, hereditary nonpolyposis, type 2
not specified
Carcinoma of colon

Criteria Provided
Conflicting Classifications

CA005971

rs_587779953

9 SubmittersRCV000115462 RCV001030629 RCV001012209 RCV001058475 RCV001149457 RCV001192573 RCV001358366

NM_000249.4(MLH1):c.1637A>G (p.Lys546Arg)

SNV
Germline

Chr3:37040264

Conflicting classifications of pathogenicity

not specified
Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Hereditary breast ovarian cancer syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA006196

rs_587779954

13 SubmittersRCV000115463 RCV000211532 RCV000566461 RCV000629933 RCV000625759 RCV000662406 RCV000759809

NM_000455.5(STK11):c.1211C>T (p.Ser404Phe)

SNV
Germline

Chr19:1226556

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Peutz-Jeghers syndrome
not specified
Condition: not provided
Malignant tumor of breast
Breast and/or ovarian cancer
STK11-related disorder
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA022472

rs_200078204

31 SubmittersRCV000115596 RCV000200450 RCV000213035 RCV000589835 RCV001269488 RCV003149797 RCV003891608 RCV004689610

NM_000465.4(BARD1):c.1690C>T (p.Gln564Ter)

SNV
Germline

Chr2:214745842

Pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Hereditary breast ovarian cancer syndrome
Triple-Negative Breast Cancer Finding
Breast and/or ovarian cancer
Endometrial carcinoma
BARD1-related disorder
BARD1-related cancer predisposition

Criteria Provided
Multiple Submitters
No Conflicts

CA287518

rs_587780021

30 SubmittersRCV000115616 RCV000205536 RCV000212135 RCV000588742 RCV000678225 RCV001270956 RCV003128144 RCV003415888 RCV005359081

NM_000465.4(BARD1):c.2191C>G (p.Arg731Gly)

SNV
Germline

Chr2:214728819

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Malignant tumor of breast
not specified
Hereditary breast ovarian cancer syndrome
Breast and/or ovarian cancer
Hereditary cancer

Criteria Provided
Conflicting Classifications

CA287535

rs_76744638

19 SubmittersRCV000115628 RCV000197435 RCV000679341 RCV001354852 RCV001818273 RCV002225328 RCV003492478 RCV003492479

NM_000465.4(BARD1):c.2291T>C (p.Ile764Thr)

SNV
Germline

Chr2:214728719

Conflicting classifications of pathogenicity

Condition: not provided
Familial cancer of breast
Hereditary cancer-predisposing syndrome
not specified
BARD1-related disorder
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA287541

rs_587780030

12 SubmittersRCV000115632 RCV000466685 RCV000568015 RCV001532967 RCV003415889 RCV004760377

NM_000465.4(BARD1):c.841C>T (p.Pro281Ser)

SNV
Germline

Chr2:214781033

Conflicting classifications of pathogenicity

Familial cancer of breast
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified

Criteria Provided
Conflicting Classifications

CA287560

rs_200059956

15 SubmittersRCV000226615 RCV000656771 RCV000572061 RCV001526799 RCV002307395

NM_000535.7(PMS2):c.1004A>G (p.Asn335Ser)

SNV
Germline/somatic

Chr7:5989940

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Lynch syndrome 4
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Lynch-like syndrome
Malignant tumor of breast
Breast and/or ovarian cancer
PMS2-related disorder
Hereditary cancer
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA009076

rs_200513014

28 SubmittersRCV000115647 RCV000121835 RCV000415644 RCV000586586 RCV001080700 RCV001249992 RCV001354576 RCV001798333 RCV003389688 RCV003492485 RCV004691753

NM_000535.7(PMS2):c.1169C>T (p.Ala390Val)

SNV
Germline

Chr7:5987596

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary breast ovarian cancer syndrome
not specified
Lynch syndrome 4
Lynch syndrome
PMS2-related disorder

Criteria Provided
Conflicting Classifications

CA009271

rs_587780039

10 SubmittersRCV000115651 RCV000212859 RCV000229947 RCV001030722 RCV001199850 RCV003467050 RCV003997284 RCV003421993

NM_000535.7(PMS2):c.2012C>T (p.Thr671Met)

SNV
Germline

Chr7:5982986

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms
not specified
Condition: not provided
Mismatch repair cancer syndrome 1
Lynch syndrome 4
Lynch syndrome 4
Breast and/or ovarian cancer
Lynch syndrome
Mismatch repair cancer syndrome 4
Hereditary breast ovarian cancer syndrome
Cancer or benign tumor

Criteria Provided
Conflicting Classifications

CA010720

rs_587780046

29 SubmittersRCV000115670 RCV000144642 RCV000200451 RCV000212865 RCV000488189 RCV000515168 RCV000987820 RCV003149799 RCV003483476 RCV004760379 RCV005625292

NM_000546.6(TP53):c.91G>A (p.Val31Ile)

SNV
Germline

Chr17:7676387

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1
Condition: not provided
Hereditary breast ovarian cancer syndrome
Breast and/or ovarian cancer
TP53-related disorder

Criteria Provided
Conflicting Classifications

CA357868

rs_201753350

18 SubmittersRCV000115742 RCV000122173 RCV000123100 RCV000409871 RCV000586196 RCV001030741 RCV003492490 RCV003945046

NM_002485.5(NBN):c.1999T>C (p.Ser667Pro)

SNV
Germline

Chr8:89946211

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency
Condition: not provided
Microcephaly, normal intelligence and immunodeficiency
Acute lymphoid leukemia
Aplastic anemia
Aplastic anemia
not specified
NBN-related disorder
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA287913

rs_587780091

14 SubmittersRCV000115786 RCV000230585 RCV000212753 RCV000515337 RCV001328956 RCV001778709 RCV003915124 RCV005859335

NM_002485.5(NBN):c.254A>G (p.Asn85Ser)

SNV
Germline

Chr8:89981441

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA287928

rs_587780095

8 SubmittersRCV000115791 RCV000214236 RCV000231493 RCV005364995

NM_002485.5(NBN):c.505C>T (p.Arg169Cys)

SNV
Germline

Chr8:89978299

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency
Condition: not provided
Aplastic anemia
Microcephaly, normal intelligence and immunodeficiency
Acute lymphoid leukemia
Hereditary breast ovarian cancer syndrome
not specified
NBN-related disorder

Criteria Provided
Conflicting Classifications

CA287937

rs_182756889

13 SubmittersRCV000115796 RCV000123218 RCV000587269 RCV000764786 RCV001030567 RCV001549273 RCV003389690

NM_002878.4(RAD51D):c.146C>T (p.Ala49Val)

SNV
Germline

Chr17:35118618

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 4
Condition: not provided
Hereditary breast ovarian cancer syndrome
not specified

Criteria Provided
Conflicting Classifications

CA287959

rs_140317560

16 SubmittersRCV000115809 RCV000204912 RCV000587212 RCV000709452 RCV003150944

NM_002878.4(RAD51D):c.1A>G (p.Met1Val)

SNV
Germline

Chr17:35119613

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 4
Gastric cancer
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA287962

rs_561425038

9 SubmittersRCV000505741 RCV000574809 RCV000576367 RCV003162541 RCV005089581

NM_002878.4(RAD51D):c.208G>A (p.Asp70Asn)

SNV
Germline

Chr17:35118556

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 4
not specified
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA287965

rs_142189122

9 SubmittersRCV000115811 RCV000212955 RCV000464081 RCV003114260 RCV005359091

NM_002878.4(RAD51D):c.413A>G (p.Asn138Ser)

SNV
Germline

Chr17:35107055

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 4
Breast and/or ovarian cancer
not specified
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA287977

rs_201676898

13 SubmittersRCV000115815 RCV000212959 RCV000232930 RCV001798343 RCV001582579 RCV005887921

NM_002878.4(RAD51D):c.694C>T (p.Arg232Ter)

SNV
Germline

Chr17:35103298

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 4
Hereditary breast ovarian cancer syndrome
Ovarian neoplasm
Breast and/or ovarian cancer
Colorectal cancer
Diffuse midline glioma, H3 K27-altered
Gastric cancer
Inherited breast cancer and ovarian cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA287986

rs_587780104

30 SubmittersRCV000115819 RCV000212965 RCV000410860 RCV000586822 RCV000785237 RCV001271051 RCV002463640 RCV003313779 RCV003162542 RCV006555443

NM_002878.4(RAD51D):c.932T>A (p.Ile311Asn)

SNV
Germline

Chr17:35101008

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 4
Condition: not provided
Hereditary breast ovarian cancer syndrome
Malignant tumor of breast
not specified
Hereditary cancer
Breast and/or ovarian cancer
RAD51D-related disorder

Criteria Provided
Conflicting Classifications

CA287993

rs_145309168

22 SubmittersRCV000115822 RCV000233793 RCV000656967 RCV000709427 RCV001354391 RCV001818279 RCV003492497 RCV003149804 RCV004751266

NM_002878.4(RAD51D):c.973G>A (p.Gly325Ser)

SNV
Germline

Chr17:35100967

Conflicting classifications of pathogenicity

not specified
Breast-ovarian cancer, familial, susceptibility to, 4
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
RAD51D-related disorder

Criteria Provided
Conflicting Classifications

CA287999

rs_587780106

13 SubmittersRCV000115824 RCV000554021 RCV000571425 RCV000656968 RCV000709426 RCV003415892

NM_004360.5(CDH1):c.1634G>A (p.Arg545Gln)

SNV
Germline

Chr16:68819348

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary diffuse gastric adenocarcinoma
Hereditary breast ovarian cancer syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA288042

rs_587780115

8 SubmittersRCV000570962 RCV000587960 RCV000809596 RCV001030611 RCV001253164

NM_005732.4(RAD50):c.1094G>A (p.Arg365Gln)

SNV
Germline

Chr5:132588729

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Nijmegen breakage syndrome-like disorder
Hereditary breast ovarian cancer syndrome
not specified
Familial cancer of breast
Nijmegen breakage syndrome-like disorder
Familial cancer of breast
Ovarian cancer
RAD50-related disorder

Criteria Provided
Conflicting Classifications

CA331855

rs_146370443

14 SubmittersRCV000115926 RCV000212907 RCV000515281 RCV001030501 RCV001199877 RCV001535589 RCV003242983 RCV003153375 RCV003407501

NM_005732.4(RAD50):c.1211A>G (p.Gln404Arg)

SNV
Germline

Chr5:132588846

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Nijmegen breakage syndrome-like disorder
Hereditary breast ovarian cancer syndrome
not specified
RAD50-related disorder

Criteria Provided
Conflicting Classifications

CA331857

rs_200017020

10 SubmittersRCV000115928 RCV000212908 RCV000409378 RCV001030502 RCV001818281 RCV003894952

NM_007194.4(CHEK2):c.-4C>T

SNV
Germline

Chr22:28734725

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
not specified
Familial ovarian cancer
CHEK2-related disorder
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA288248

rs_374938148

17 SubmittersRCV000115977 RCV000232150 RCV000589024 RCV001175353 RCV001356669 RCV004542826 RCV005251063

NM_007194.4(CHEK2):c.1111C>T (p.His371Tyr)

SNV
Germline/somatic

Chr22:28695858

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
not specified
Condition: not provided
Breast neoplasm
Hereditary breast ovarian cancer syndrome
Lung cancer
Familial cancer of breast
Ovarian neoplasm
Malignant tumor of breast
Bone osteosarcoma
CHEK2-related disorder
CHEK2-related cancer predisposition
Bone osteosarcoma
Familial prostate cancer

Criteria Provided
Conflicting Classifications

CA288254

rs_531398630

19 SubmittersRCV000115982 RCV000197709 RCV000212449 RCV000656834 RCV000677873 RCV001030625 RCV001527478 RCV001355387 RCV003448266 RCV004529939 RCV005003475

NM_007194.4(CHEK2):c.1180G>A (p.Glu394Lys)

SNV
Germline

Chr22:28695789

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Malignant tumor of breast
not specified
Hereditary breast ovarian cancer syndrome
CHEK2-related cancer predisposition
Bone osteosarcoma
Familial prostate cancer
CHEK2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA288262

rs_587780169

13 SubmittersRCV000115986 RCV000212453 RCV000228584 RCV001356701 RCV003226200 RCV003483480 RCV005025182 RCV005620341

NM_007194.4(CHEK2):c.1215C>A (p.Asn405Lys)

SNV
Germline

Chr22:28695754

Conflicting classifications of pathogenicity

Condition: not provided
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Familial cancer of breast
CHEK2-related cancer predisposition
Prostate cancer
Bone osteosarcoma
Hereditary breast ovarian cancer syndrome
CHEK2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA288266

rs_587780171

12 SubmittersRCV000115989 RCV000199599 RCV000219945 RCV000764373 RCV004764764 RCV005359095

NM_007194.4(CHEK2):c.1270T>C (p.Tyr424His)

SNV
Germline

Chr22:28695232

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
CHEK2-related cancer predisposition
Bone osteosarcoma
Familial cancer of breast
Prostate cancer
Condition: not provided
not specified
Malignant tumor of breast
Breast and/or ovarian cancer
CHEK2-related disorder
CHEK2-related cancer predisposition
Bone osteosarcoma
Familial prostate cancer
CHEK2-related cancer predisposition
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA288272

rs_139366548

28 SubmittersRCV000115993 RCV000197909 RCV000515214 RCV000590008 RCV001175351 RCV001355460 RCV003492501 RCV004528802 RCV005031610 RCV005414455 RCV004764765

NM_007194.4(CHEK2):c.1312G>T (p.Asp438Tyr)

SNV
Germline

Chr22:28695190

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
not specified
CHEK2-related cancer predisposition
Bone osteosarcoma
Familial cancer of breast
Prostate cancer
Condition: not provided
Malignant tumor of breast
Carcinoma of colon
CHEK2-related cancer predisposition
Breast and/or ovarian cancer
Hereditary breast ovarian cancer syndrome
Hereditary cancer
CHEK2-related disorder

Criteria Provided
Conflicting Classifications

CA151527

rs_200050883

36 SubmittersRCV000115996 RCV000199565 RCV000200982 RCV000515311 RCV000587890 RCV001269492 RCV001356041 RCV001294021 RCV001798350 RCV003483481 RCV003492502 RCV004528803

NM_007194.4(CHEK2):c.1427C>T (p.Thr476Met)

SNV
Germline

Chr22:28694066

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Breast and colorectal cancer, susceptibility to
Breast neoplasm
not specified
Colon cancer
Breast carcinoma
Malignant tumor of breast
Breast and/or ovarian cancer
CHEK2-related cancer predisposition
CHEK2-related disorder
Familial cancer of breast
Familial prostate cancer
CHEK2-related cancer predisposition
Bone osteosarcoma
Familial prostate cancer
Hereditary breast ovarian cancer syndrome
CHEK2-related cancer predisposition
Colorectal cancer
Familial cancer of breast
Prostate cancer
Inherited breast cancer and ovarian cancer

Criteria Provided
Conflicting Classifications

CA288282

rs_142763740

56 SubmittersRCV000116001 RCV000198554 RCV000212465 RCV000210077 RCV000317389 RCV000499890 RCV001564016 RCV001572627 RCV001357877 RCV001798351 RCV003444200 RCV004528804 RCV004820830 RCV005025183 RCV005089582 RCV005625294 RCV006436672

NM_007194.4(CHEK2):c.1525C>T (p.Pro509Ser)

SNV
Germline

Chr22:28689152

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
CHEK2-related cancer predisposition
Prostate cancer
Familial cancer of breast
Bone osteosarcoma
not specified
Prostate cancer
Colorectal cancer
Familial cancer of breast
CHEK2-related disorder
CHEK2-related cancer predisposition
Familial prostate cancer
Bone osteosarcoma
Familial colorectal cancer type X
Hereditary breast ovarian cancer syndrome
Li-Fraumeni syndrome

Criteria Provided
Conflicting Classifications

CA288288

rs_587780179

18 SubmittersRCV000116004 RCV000200569 RCV000212472 RCV000764368 RCV000781300 RCV003483482 RCV004528805 RCV005025184 RCV005359096

NM_007194.4(CHEK2):c.1555C>T (p.Arg519Ter)

SNV
Germline

Chr22:28687974

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Breast and colorectal cancer, susceptibility to
Condition: not provided
Familial cancer of breast
Hereditary breast ovarian cancer syndrome
CHEK2-related cancer predisposition
Breast and/or ovarian cancer
Gastric cancer
Familial prostate cancer
Familial cancer of breast
Familial prostate cancer
Bone osteosarcoma
CHEK2-related cancer predisposition

Criteria Provided
Multiple Submitters
No Conflicts

CA288290

rs_200432447

23 SubmittersRCV000116005 RCV000210124 RCV000212474 RCV000471222 RCV000589100 RCV001705822 RCV001798352 RCV003162543 RCV004819219 RCV004796022

NM_007194.4(CHEK2):c.1556G>T (p.Arg519Leu)

SNV
Germline

Chr22:28687973

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
not specified
CHEK2-related cancer predisposition
Bone osteosarcoma
Familial cancer of breast
Prostate cancer
Condition: not provided
Malignant tumor of breast
Predisposition to cancer
Breast and/or ovarian cancer
CHEK2-related disorder
Hereditary cancer
CHEK2-related cancer predisposition
Bone osteosarcoma
Familial prostate cancer
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA288294

rs_587780180

30 SubmittersRCV000116007 RCV000198277 RCV000212476 RCV000515321 RCV000586195 RCV001357730 RCV002291560 RCV001798353 RCV004529941 RCV003492503 RCV005025185 RCV005600680

NM_007194.4(CHEK2):c.190G>A (p.Glu64Lys)

SNV
Germline/somatic

Chr22:28734532

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Breast and colorectal cancer, susceptibility to
Familial cancer of breast
Malignant tumor of breast
Breast and/or ovarian cancer
not specified
Hereditary breast ovarian cancer syndrome
Predisposition to cancer
CHEK2-related cancer predisposition
CHEK2-related disorder
CHEK2-related cancer predisposition
Bone osteosarcoma
Familial prostate cancer
Neoplasm

Criteria Provided
Conflicting Classifications

CA288298

rs_141568342

41 SubmittersRCV000116009 RCV000212407 RCV000210191 RCV000199067 RCV001356247 RCV001270935 RCV002465520 RCV002265610 RCV003153376 RCV003338414 RCV004528806 RCV005025186 RCV005229913

NM_007194.4(CHEK2):c.349A>G (p.Arg117Gly)

SNV
Germline

Chr22:28725338

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Malignant tumor of breast
Hereditary breast ovarian cancer syndrome
Prostate cancer susceptibility
Breast cancer, susceptibility to
Predisposition to cancer
CHEK2-related cancer predisposition
Breast and/or ovarian cancer
CHEK2-related disorder
CHEK2-related cancer predisposition
Bone osteosarcoma
Familial prostate cancer
Inherited breast cancer and ovarian cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA288301

rs_28909982

53 SubmittersRCV000116012 RCV000204429 RCV000212414 RCV001263516 RCV001374534 RCV001258041 RCV001526815 RCV001787918 RCV001798355 RCV003114263 RCV005003477 RCV005252761

NM_007194.4(CHEK2):c.444+1G>A

SNV
Germline

Chr22:28725242

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Breast and colorectal cancer, susceptibility to
Condition: not provided
Breast cancer, susceptibility to
CHEK2-related cancer predisposition
Bone osteosarcoma
Familial cancer of breast
Prostate cancer
CHEK2-related cancer predisposition
Familial cancer of breast
Malignant tumor of breast
Breast and/or ovarian cancer
Breast carcinoma
CHEK2-related cancer predisposition
Colorectal cancer
Melanoma
Endometrial carcinoma
TUMOR PREDISPOSITION SYNDROME 4, BREAST/PROSTATE
Inherited breast cancer and ovarian cancer
CHEK2-related disorder
CHEK2-related cancer predisposition
Bone osteosarcoma
Familial prostate cancer
Breast-ovarian cancer, familial, susceptibility to, 1
Malignant tumor of urinary bladder
Hereditary breast ovarian cancer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA288309

rs_121908698

60 SubmittersRCV000116017 RCV000196718 RCV000210090 RCV000212418 RCV000501923 RCV000763475 RCV001171461 RCV001354639 RCV001270936 RCV001554253 RCV001705823 RCV002463642 RCV002508922 RCV003128145 RCV003333693 RCV004772840 RCV004737199 RCV005031611 RCV005246647 RCV005887929 RCV006605226

NM_007194.4(CHEK2):c.538C>T (p.Arg180Cys)

SNV
Germline

Chr22:28725031

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Familial cancer of breast
Prostate cancer
Condition: not provided
Hereditary breast ovarian cancer syndrome
Breast and/or ovarian cancer
CHEK2-related disorder
CHEK2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA288318

rs_77130927

27 SubmittersRCV000116024 RCV000212426 RCV000196561 RCV000490304 RCV000588124 RCV001030689 RCV001798358 RCV004529943 RCV005414456

NM_007194.4(CHEK2):c.917G>C (p.Gly306Ala)

SNV
Germline

Chr22:28699929

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Malignant tumor of breast
Carcinoma of pancreas
CHEK2-related cancer predisposition
Colonic neoplasm
not specified
Inherited breast cancer and ovarian cancer
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA288331

rs_587780192

25 SubmittersRCV000116033 RCV000212440 RCV000228767 RCV001355901 RCV001391209 RCV001251038 RCV001579302 RCV003320458 RCV004584194 RCV006261730

NM_024675.4(PALB2):c.1240C>T (p.Arg414Ter)

SNV
Germline

Chr16:23635306

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Hereditary breast ovarian cancer syndrome
Malignant tumor of breast
Gastric cancer
PALB2-related disorder
Breast-ovarian cancer, familial, susceptibility to, 5
Pancreatic cancer, susceptibility to, 3
Breast-ovarian cancer, familial, susceptibility to, 1
Breast-ovarian cancer, familial, susceptibility to, 5
Pancreatic cancer, susceptibility to, 3
Fanconi anemia complementation group N
Primary ciliary dyskinesia 20
Breast-ovarian cancer, familial, susceptibility to, 5
Inherited breast cancer and ovarian cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA288395

rs_180177100

31 SubmittersRCV000116064 RCV000123331 RCV000254674 RCV000588541 RCV001354096 RCV003162546 RCV004529946 RCV004555854 RCV004668783 RCV005003478 RCV005862983 RCV006605227 RCV006605228

NM_024675.4(PALB2):c.2509G>A (p.Glu837Lys)

SNV
Germline

Chr16:23629645

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Fanconi anemia complementation group N
Condition: not provided
Familial cancer of breast
Hereditary breast ovarian cancer syndrome
Malignant tumor of breast
Breast and/or ovarian cancer
PALB2-related disorder

Criteria Provided
Conflicting Classifications

CA161349

rs_587778587

19 SubmittersRCV000116087 RCV000121758 RCV000318539 RCV000656936 RCV000989556 RCV001030647 RCV001356207 RCV001798359 RCV004529947

NM_024675.4(PALB2):c.3549C>A (p.Tyr1183Ter)

SNV
Germline

Chr16:23603471

Pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Hereditary breast ovarian cancer syndrome
Pancreatic cancer, susceptibility to, 3
Fanconi anemia complementation group N
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 1
Pancreatic cancer, susceptibility to, 3
Fanconi anemia complementation group N
Breast-ovarian cancer, familial, susceptibility to, 5
PALB2-related disorder
PALB2-related cancer predisposition
Hereditary cancer-predisposing syndrome
Pancreatic cancer, susceptibility to, 3
Fanconi anemia complementation group N
Breast-ovarian cancer, familial, susceptibility to, 5

Reviewed By Expert Panel

CA288488

rs_118203998

24 SubmittersRCV000116108 RCV000200012 RCV000212831 RCV000587765 RCV000763376 RCV003493446 RCV005394394 RCV004528809 RCV005639034 RCV006253807

NM_032043.3(BRIP1):c.1255C>T (p.Arg419Trp)

SNV
Germline

Chr17:61799185

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Familial cancer of breast
Fanconi anemia complementation group J
Fanconi anemia complementation group J
Breast carcinoma
Condition: not provided
Malignant tumor of breast
Familial cancer of breast
Breast and/or ovarian cancer
BRIP1-related disorder
Ovarian cancer
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA157738

rs_150624408

26 SubmittersRCV000116120 RCV000120413 RCV000206467 RCV000409993 RCV000415326 RCV000587794 RCV001356264 RCV001262875 RCV003149812 RCV004529948 RCV005430124 RCV004764766

NM_032043.3(BRIP1):c.1315C>T (p.Arg439Ter)

SNV
Germline

Chr17:61799125

Pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group J
Familial cancer of breast
Familial ovarian cancer
Familial cancer of breast
Gastric cancer
BRIP1-related disorder
Hereditary breast ovarian cancer syndrome
Fanconi anemia complementation group J
Ovarian cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA288511

rs_587780226

14 SubmittersRCV000116121 RCV000210150 RCV000699261 RCV001787088 RCV003315646 RCV003162547 RCV003483484 RCV005359106 RCV005430125

NM_032043.3(BRIP1):c.2830C>G (p.Gln944Glu)

SNV
Germline

Chr17:61685911

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group J
Familial cancer of breast
Fanconi anemia complementation group J
Condition: not provided
not specified
Hereditary breast ovarian cancer syndrome
BRIP1-related disorder
Familial cancer of breast
Breast and/or ovarian cancer
Familial ovarian cancer
Ovarian cancer

Criteria Provided
Conflicting Classifications

CA288570

rs_140233356

19 SubmittersRCV000116149 RCV000199089 RCV000411198 RCV000585934 RCV000855583 RCV001030467 RCV004529951 RCV003315655 RCV003492507 RCV005359111 RCV005430138

NM_032043.3(BRIP1):c.587A>G (p.Asn196Ser)

SNV
Germline

Chr17:61847141

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Familial cancer of breast
Fanconi anemia complementation group J
Hereditary breast ovarian cancer syndrome
Malignant tumor of breast
Fanconi anemia complementation group J
Cervical cancer
Breast and/or ovarian cancer
BRIP1-related disorder
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA288606

rs_550707862

17 SubmittersRCV000116163 RCV000235147 RCV000586611 RCV001082539 RCV001030546 RCV001356416 RCV001127949 RCV001356235 RCV003149814 RCV004529954 RCV004786373

NM_058216.3(RAD51C):c.1102C>T (p.Arg368Trp)

SNV
Germline

Chr17:58734193

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group O
not specified
Breast-ovarian cancer, familial, susceptibility to, 3
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 3
Fanconi anemia complementation group O
Condition: not provided
Familial ovarian cancer

Criteria Provided
Conflicting Classifications

CA288618

rs_587780253

15 SubmittersRCV000116171 RCV000227763 RCV000212951 RCV000302331 RCV000709519 RCV000662871 RCV001704017 RCV005600687

NM_058216.3(RAD51C):c.406A>T (p.Met136Leu)

SNV
Germline

Chr17:58696694

Conflicting classifications of pathogenicity

Condition: not provided
Fanconi anemia complementation group O
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
Microcephaly
Breast-ovarian cancer, familial, susceptibility to, 3
Fanconi anemia complementation group O
Breast-ovarian cancer, familial, susceptibility to, 3
Familial ovarian cancer

Criteria Provided
Conflicting Classifications

CA331898

rs_587780254

12 SubmittersRCV000116173 RCV000205234 RCV000571441 RCV001030586 RCV001192876 RCV001252722 RCV002477288 RCV003239288 RCV005600688

NM_058216.3(RAD51C):c.428A>G (p.Gln143Arg)

SNV
Germline

Chr17:58696716

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group O
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 3
Fanconi anemia complementation group O
not specified
Breast-ovarian cancer, familial, susceptibility to, 3
RAD51C-related disorder
Familial ovarian cancer
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA331901

rs_587780255

19 SubmittersRCV000116174 RCV000123374 RCV000200995 RCV000663261 RCV001818287 RCV003330081 RCV004529955 RCV005600689 RCV005251064

NM_058216.3(RAD51C):c.506T>C (p.Val169Ala)

SNV
Germline

Chr17:58696794

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group O
Breast-ovarian cancer, familial, susceptibility to, 3
Condition: not provided
Malignant tumor of breast
not specified
Breast and/or ovarian cancer
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA288624

rs_587780256

19 SubmittersRCV000116175 RCV000199007 RCV000412269 RCV000588889 RCV001358061 RCV002267859 RCV003492509 RCV004556053

NM_058216.3(RAD51C):c.571+4A>G

SNV
Germline

Chr17:58696863

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group O
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 3
Fanconi anemia complementation group O
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 3
Breast and/or ovarian cancer
not specified
RAD51C-related disorder
Inherited ovarian cancer (without breast cancer)

Criteria Provided
Conflicting Classifications

CA331904

rs_587780257

14 SubmittersRCV000116176 RCV000206409 RCV000212940 RCV000662721 RCV000709506 RCV001356484 RCV001798364 RCV003323404 RCV004529956 RCV004808579

NM_058216.3(RAD51C):c.706-2A>G

SNV
Germline

Chr17:58709857

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group O
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 3
Breast-ovarian cancer, familial, susceptibility to, 3
Fanconi anemia complementation group O
Ovarian neoplasm
Hereditary breast ovarian cancer syndrome
RAD51C-related disorder
Familial ovarian cancer
Long QT syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA288628

rs_587780259

27 SubmittersRCV000116178 RCV000234445 RCV000254687 RCV000456123 RCV000576612 RCV000785234 RCV001194262 RCV004528814 RCV005600690 RCV005625295

NM_058216.3(RAD51C):c.790G>A (p.Gly264Ser)

SNV
Germline

Chr17:58709943

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 3
Breast-ovarian cancer, familial, susceptibility to, 3
Fanconi anemia complementation group O
Hereditary breast ovarian cancer syndrome
Fanconi anemia complementation group O
Malignant tumor of breast
Breast and/or ovarian cancer
Familial cancer of breast
RAD51C-related disorder

Criteria Provided
Conflicting Classifications

CA208307

rs_147241704

32 SubmittersRCV000116180 RCV000194252 RCV000487827 RCV000515761 RCV000662625 RCV000709513 RCV000989962 RCV001270343 RCV001798366 RCV002272129 RCV004528815

NM_000059.4(BRCA2):c.2598A>T (p.Glu866Asp)

SNV
Germline

Chr13:32336953

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA015772

rs_587780549

4 SubmittersRCV000119197 RCV000129897

NM_000051.4(ATM):c.162T>C (p.Tyr54=)

SNV
Germline

Chr11:108227865

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Familial cancer of breast
Breast and/or ovarian cancer
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA289553

rs_3218690

33 SubmittersRCV000119217 RCV000123737 RCV000211941 RCV000415913 RCV001262812 RCV001798375 RCV002225353

NM_000051.4(ATM):c.1595G>A (p.Cys532Tyr)

SNV
Germline

Chr11:108251060

Conflicting classifications of pathogenicity

not specified
Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Ataxia-telangiectasia syndrome
Condition: not provided
Malignant tumor of breast
Breast and/or ovarian cancer
Familial cancer of breast
Hepatoblastoma
Hereditary breast ovarian cancer syndrome
ATM-related disorder
Hereditary cancer

Criteria Provided
Conflicting Classifications

CA157062

rs_35963548

23 SubmittersRCV000120116 RCV000122821 RCV000129230 RCV000515290 RCV000589072 RCV001355212 RCV001798377 RCV002243780 RCV001843478 RCV005411341 RCV004739411 RCV005235003

NM_000051.4(ATM):c.5558A>T (p.Asp1853Val)

SNV
Germline

Chr11:108304736

Conflicting classifications of pathogenicity

not specified
Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Malignant tumor of breast
Breast and/or ovarian cancer
Hereditary breast ovarian cancer syndrome
Familial cancer of breast
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

CA157135

rs_1801673

36 SubmittersRCV000120145 RCV000122859 RCV000128902 RCV000513231 RCV001262813 RCV001358294 RCV001798378 RCV002225361 RCV003224156

NM_000051.4(ATM):c.6437G>C (p.Ser2146Thr)

SNV
Germline

Chr11:108320043

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
Ataxia-telangiectasia syndrome
Hereditary breast ovarian cancer syndrome
Breast and/or ovarian cancer
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA157159

rs_56815840

25 SubmittersRCV000120154 RCV000131611 RCV000710676 RCV001080465 RCV002225364 RCV003149825 RCV003315729

NM_000051.4(ATM):c.7919C>T (p.Thr2640Ile)

SNV
Germline

Chr11:108332892

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided
Malignant tumor of breast
Familial cancer of breast
Tip-toe gait
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA157174

rs_4988125

22 SubmittersRCV000120159 RCV000130402 RCV000168144 RCV000586791 RCV001355591 RCV003325183 RCV004724814 RCV006449999

NM_000051.4(ATM):c.7988T>C (p.Val2663Ala)

SNV
Germline

Chr11:108333946

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Familial cancer of breast
ATM-related disorder

Criteria Provided
Conflicting Classifications

CA157177

rs_377648506

15 SubmittersRCV000120160 RCV000214426 RCV000231221 RCV000656763 RCV002225366 RCV003315730 RCV004551180

NM_000051.4(ATM):c.659C>T (p.Ala220Val)

SNV
Germline

Chr11:108244115

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
Ataxia-telangiectasia syndrome
Familial cancer of breast
Ataxia-telangiectasia syndrome
Hereditary breast ovarian cancer syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA157192

rs_145355104

17 SubmittersRCV000120165 RCV000159677 RCV000513410 RCV000527646 RCV000764936 RCV001030516 RCV001253154

NM_000057.4(BLM):c.2371C>T (p.Arg791Cys)

SNV
Germline

Chr15:90769196

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Bloom syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA157382

rs_55880859

12 SubmittersRCV000120226 RCV000568596 RCV000628631 RCV001030455 RCV004998236

NM_000057.4(BLM):c.178T>A (p.Leu60Ile)

SNV
Germline

Chr15:90749446

Conflicting classifications of pathogenicity

not specified
Bloom syndrome
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Microcephaly
BLM-related disorder

Criteria Provided
Conflicting Classifications

CA157427

rs_138542210

11 SubmittersRCV000120241 RCV000330317 RCV000562376 RCV001030679 RCV001252853 RCV003915190

NM_007294.4(BRCA1):c.2330A>G (p.Tyr777Cys)

SNV
Germline

Chr17:43093201

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA001556

rs_587778116

3 SubmittersRCV000120272 RCV003157408 RCV003529988

NM_007294.4(BRCA1):c.3277G>T (p.Val1093Phe)

SNV
Germline

Chr17:43092254

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA002115

rs_587778117

6 SubmittersRCV000120294 RCV000580031 RCV001045571 RCV003997338

NM_007294.4(BRCA1):c.787G>A (p.Gly263Ser)

SNV
Germline

Chr17:43094744

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA003868

rs_397509318

5 SubmittersRCV000120297 RCV001026905 RCV001045456

NM_000059.4(BRCA2):c.1742C>T (p.Ser581Phe)

SNV
Germline

Chr13:32333220

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
BRCA2-related cancer predisposition
8 conditions
Condition: not provided

Criteria Provided
Conflicting Classifications

CA013031

rs_587778118

8 SubmittersRCV000120307 RCV000223160 RCV000476382 RCV004804115 RCV005003483 RCV006259025

NM_000059.4(BRCA2):c.2892A>T (p.Lys964Asn)

SNV
Germline

Chr13:32337247

Conflicting classifications of pathogenicity

not specified
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Malignant tumor of breast
Condition: not provided

Criteria Provided
Conflicting Classifications

CA016692

rs_587778119

11 SubmittersRCV000120315 RCV000238991 RCV000557314 RCV000771211 RCV001353978 RCV001704033

NM_000059.4(BRCA2):c.5210A>T (p.Asp1737Val)

SNV
Germline

Chr13:32339565

Conflicting classifications of pathogenicity

not specified
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA021701

rs_587778120

13 SubmittersRCV000120322 RCV000410599 RCV000571871 RCV000586512 RCV000699007

NM_000059.4(BRCA2):c.5230A>G (p.Ser1744Gly)

SNV
Germline

Chr13:32339585

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA021808

rs_587778121

7 SubmittersRCV000120323 RCV000563678 RCV001039614 RCV003477498

NM_000059.4(BRCA2):c.3485C>T (p.Ala1162Val)

SNV
Germline

Chr13:32337840

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA018151

rs_587778122

8 SubmittersRCV000120325 RCV000773046 RCV001556658 RCV001854598 RCV002466433

NM_000059.4(BRCA2):c.6112C>T (p.His2038Tyr)

SNV
Germline

Chr13:32340467

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA023663

rs_587778123

6 SubmittersRCV000120332 RCV000165227 RCV000467109 RCV003997340

NM_000059.4(BRCA2):c.3358G>C (p.Glu1120Gln)

SNV
Germline

Chr13:32337713

Conflicting classifications of pathogenicity

not specified
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA017857

rs_587778124

6 SubmittersRCV000120337 RCV000465787 RCV001191385 RCV003477499

NM_000059.4(BRCA2):c.2515T>C (p.Tyr839His)

SNV
Germline

Chr13:32336870

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Familial cancer of breast
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA015518

rs_587778125

8 SubmittersRCV000120344 RCV000220257 RCV000686331 RCV003607240 RCV004804116

NM_000059.4(BRCA2):c.5411T>C (p.Val1804Ala)

SNV
Germline

Chr13:32339766

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA022272

rs_370252983

14 SubmittersRCV000120347 RCV000129811 RCV000685972 RCV000624983 RCV000766625 RCV004804117

NM_000059.4(BRCA2):c.257T>C (p.Leu86Pro)

SNV
Germline

Chr13:32319266

Conflicting classifications of pathogenicity

not specified
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA015684

rs_572782576

15 SubmittersRCV000120383 RCV000234582 RCV000564505 RCV000662463 RCV000766592 RCV004804119

NM_000059.4(BRCA2):c.340C>T (p.His114Tyr)

SNV
Germline

Chr13:32325099

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA017959

rs_587778129

10 SubmittersRCV000120384 RCV000758883 RCV001020230 RCV001041097 RCV003460847 RCV003997343

NM_032043.3(BRIP1):c.2324A>G (p.Asn775Ser)

SNV
Germline

Chr17:61743068

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group J
Familial cancer of breast
Condition: not provided
Hereditary breast ovarian cancer syndrome
Ovarian cancer
Breast and/or ovarian cancer
Familial cancer of breast
Familial ovarian cancer
Ovarian cancer
Fanconi anemia complementation group J
Fanconi anemia complementation group J

Criteria Provided
Conflicting Classifications

CA157695

rs_571108955

19 SubmittersRCV000120397 RCV000165749 RCV000475545 RCV000656813 RCV001030536 RCV003153386 RCV003492523 RCV003315735 RCV005600694 RCV005430155 RCV005859507

NM_032043.3(BRIP1):c.2440C>T (p.Arg814Cys)

SNV
Germline

Chr17:61716003

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
Fanconi anemia complementation group J
Hereditary breast ovarian cancer syndrome
Fanconi anemia complementation group J
Familial cancer of breast
Malignant tumor of breast
Familial cancer of breast
Breast and/or ovarian cancer
Fanconi anemia complementation group J
Ovarian cancer

Criteria Provided
Conflicting Classifications

CA157701

rs_201869624

20 SubmittersRCV000120399 RCV000131535 RCV000588835 RCV000709540 RCV001030535 RCV001083712 RCV001356698 RCV003315736 RCV003492524 RCV005430156

NM_032043.3(BRIP1):c.3444C>A (p.Asp1148Glu)

SNV
Germline

Chr17:61683602

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group J
Familial cancer of breast
Fanconi anemia complementation group J
Condition: not provided
Familial cancer of breast
Familial ovarian cancer
Fanconi anemia complementation group J
Breast and/or ovarian cancer
Hereditary breast ovarian cancer syndrome
Ovarian cancer

Criteria Provided
Conflicting Classifications

CA157710

rs_28997573

24 SubmittersRCV000120402 RCV000131003 RCV000204453 RCV000411479 RCV000589005 RCV000989978 RCV001535623 RCV003149828 RCV005089595 RCV005430159

NM_004360.5(CDH1):c.1214A>G (p.Asn405Ser)

SNV
Germline

Chr16:68813389

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Hereditary diffuse gastric adenocarcinoma
Condition: not provided
CDH1-related diffuse gastric and lobular breast cancer syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA157983

rs_587778175

11 SubmittersRCV000120513 RCV000129759 RCV000198487 RCV000656821 RCV005359140 RCV006261731

NM_002485.5(NBN):c.1405G>T (p.Asp469Tyr)

SNV
Germline

Chr8:89953684

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency
Condition: not provided
Hereditary breast ovarian cancer syndrome
NBN-related disorder
Aplastic anemia
Hereditary cancer

Criteria Provided
Conflicting Classifications

CA160966

rs_148205441

13 SubmittersRCV000121613 RCV000129788 RCV000167890 RCV000588734 RCV002225383 RCV003389699 RCV003474728 RCV005235011

NM_000535.7(PMS2):c.598G>A (p.Val200Ile)

SNV
Germline

Chr7:5999215

Conflicting classifications of pathogenicity

not specified
Lynch syndrome 4
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Hereditary nonpolyposis colorectal neoplasms
Ovarian cancer
Lynch syndrome 4
Mismatch repair cancer syndrome 4

Criteria Provided
Conflicting Classifications

CA012369

rs_587778620

10 SubmittersRCV000121858 RCV000412111 RCV000570676 RCV001030724 RCV001244956 RCV003153398 RCV005042233

NM_000546.6(TP53):c.605G>A (p.Arg202His)

SNV
Germline

Chr17:7674926

Conflicting classifications of pathogenicity

not specified
Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Malignant tumor of breast

Criteria Provided
Conflicting Classifications

CA000289

rs_587778719

7 SubmittersRCV000122175 RCV000459232 RCV000567735 RCV001030735 RCV001358628

NM_000051.4(ATM):c.1986T>C (p.Phe662=)

SNV
Germline

Chr11:108253901

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Malignant tumor of breast
Breast and/or ovarian cancer
Familial cancer of breast
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA289538

rs_1800055

28 SubmittersRCV000122829 RCV000123724 RCV000211971 RCV000586136 RCV001356414 RCV001798389 RCV003315804 RCV004764767

NM_000051.4(ATM):c.4473C>T (p.Phe1491=)

SNV
Germline

Chr11:108292655

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Malignant tumor of breast
Breast and/or ovarian cancer
Hereditary breast ovarian cancer syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA289569

rs_4988008

32 SubmittersRCV000122850 RCV000123748 RCV000212018 RCV000587530 RCV001354679 RCV001798393 RCV002225390 RCV004589602

NM_000051.4(ATM):c.6820G>A (p.Ala2274Thr)

SNV
Germline

Chr11:108326070

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Tip-toe gait
not specified
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA298037

rs_567060474

16 SubmittersRCV000122880 RCV000159644 RCV000588200 RCV001250436 RCV001824286 RCV004562279 RCV004760385

NM_000051.4(ATM):c.8921C>T (p.Pro2974Leu)

SNV
Germline

Chr11:108365152

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Hereditary breast ovarian cancer syndrome
Malignant tumor of breast
Breast and/or ovarian cancer
ATM-related disorder
Familial cancer of breast
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

CA185963

rs_139379666

19 SubmittersRCV000122894 RCV000159668 RCV000200970 RCV000780903 RCV001030606 RCV001356215 RCV001798400 RCV004739423 RCV005042236

NM_000059.4(BRCA2):c.1838T>G (p.Leu613Arg)

SNV
Germline

Chr13:32333316

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified
Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Malignant tumor of breast
BRCA2-related disorder

Criteria Provided
Conflicting Classifications

CA013524

rs_587780646

12 SubmittersRCV000122900 RCV000129425 RCV000221850 RCV000238635 RCV000985248 RCV001358539 RCV004530045

NM_000059.4(BRCA2):c.4081C>G (p.Gln1361Glu)

SNV
Germline

Chr13:32338436

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
not specified
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA019486

rs_587780652

5 SubmittersRCV000122910 RCV000779933 RCV001021825 RCV005359155

NM_000059.4(BRCA2):c.5045G>C (p.Ser1682Thr)

SNV
Germline

Chr13:32339400

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA021177

rs_41293493

3 SubmittersRCV000122913 RCV002336268

NM_000059.4(BRCA2):c.6173T>G (p.Phe2058Cys)

SNV
Germline

Chr13:32340528

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA023716

rs_55973801

2 SubmittersRCV000122920 RCV003157409

NM_000059.4(BRCA2):c.6176G>A (p.Ser2059Asn)

SNV
Germline

Chr13:32340531

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA023720

rs_587780657

8 SubmittersRCV000122921 RCV000131374 RCV002228445 RCV003441746 RCV004804122

NM_000059.4(BRCA2):c.6231G>C (p.Lys2077Asn)

SNV
Germline

Chr13:32340586

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary breast ovarian cancer syndrome
not specified
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA023776

rs_541826447

12 SubmittersRCV000222718 RCV000412472 RCV000588715 RCV001087043 RCV002267862 RCV005365011

NM_000059.4(BRCA2):c.67+16A>T

SNV
Germline

Chr13:32316543

Conflicting classifications of pathogenicity

not specified
Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA024324

rs_529148674

5 SubmittersRCV000175513 RCV000662683 RCV000724355 RCV001078608

NM_000059.4(BRCA2):c.7559G>C (p.Arg2520Pro)

SNV
Germline

Chr13:32356551

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA025148

rs_80358982

6 SubmittersRCV000122929 RCV000214969 RCV000479153 RCV000985588

NM_000059.4(BRCA2):c.9872C>G (p.Ser3291Cys)

SNV
Germline

Chr13:32398385

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA026318

rs_200210279

8 SubmittersRCV000122939 RCV000129292 RCV000480317 RCV002265612 RCV003493449

NM_000179.3(MSH6):c.3151G>A (p.Val1051Ile)

SNV
Germline

Chr2:47801134

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome 5
Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary nonpolyposis colorectal neoplasms
Carcinoma of colon
not specified
Breast and/or ovarian cancer
MSH6-related disorder

Criteria Provided
Conflicting Classifications

CA011639

rs_576269342

15 SubmittersRCV000132157 RCV000408980 RCV000588824 RCV001030498 RCV001257068 RCV001355067 RCV001796965 RCV003492535 RCV004528840

NM_007294.4(BRCA1):c.1196A>G (p.His399Arg)

SNV
Germline

Chr17:43094335

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA000787

rs_587780794

3 SubmittersRCV000123266 RCV000563126

NM_007294.4(BRCA1):c.81-2A>C

SNV
Germline

Chr17:43115781

Pathogenic/Likely pathogenic

Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA003911

rs_397509326

7 SubmittersRCV000123286 RCV000985449 RCV001072442 RCV001524170

NM_032043.3(BRIP1):c.1629-3T>C

SNV
Germline

Chr17:61781008

Conflicting classifications of pathogenicity

Fanconi anemia complementation group J
Familial cancer of breast
Hereditary cancer-predisposing syndrome
not specified
Fanconi anemia complementation group J
Condition: not provided
Hereditary breast ovarian cancer syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA294179

rs_587780828

12 SubmittersRCV000123350 RCV000130219 RCV000212313 RCV003144134 RCV003477525 RCV003483490 RCV004786386

NM_032043.3(BRIP1):c.3042T>C (p.Gly1014=)

SNV
Germline

Chr17:61684004

Conflicting classifications of pathogenicity

Fanconi anemia complementation group J
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Familial cancer of breast
Hereditary breast ovarian cancer syndrome
BRIP1-related disorder

Criteria Provided
Conflicting Classifications

CA187582

rs_188258913

13 SubmittersRCV000123357 RCV000163156 RCV001284118 RCV001778741 RCV002272135 RCV005359168 RCV004530061

NM_032043.3(BRIP1):c.778A>G (p.Thr260Ala)

SNV
Germline

Chr17:61808607

Conflicting classifications of pathogenicity

Fanconi anemia complementation group J
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
Fanconi anemia complementation group J
Hereditary breast ovarian cancer syndrome
not specified
Breast and/or ovarian cancer
Familial ovarian cancer

Criteria Provided
Conflicting Classifications

CA298928

rs_138743097

16 SubmittersRCV000123365 RCV000160362 RCV000586716 RCV001125839 RCV002225394 RCV002267867 RCV003149846 RCV005359169

NM_058216.3(RAD51C):c.523G>A (p.Ala175Thr)

SNV
Germline

Chr17:58696811

Conflicting classifications of pathogenicity

Fanconi anemia complementation group O
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
not specified
Breast-ovarian cancer, familial, susceptibility to, 3
Breast-ovarian cancer, familial, susceptibility to, 3
Fanconi anemia complementation group O
Familial ovarian cancer

Criteria Provided
Conflicting Classifications

CA333006

rs_587780838

16 SubmittersRCV000123375 RCV000160928 RCV000212941 RCV000709504 RCV000780670 RCV003467097 RCV005016427 RCV005600700

NM_000051.4(ATM):c.5497-15G>C

SNV
Germline

Chr11:108304660

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Malignant tumor of breast
Condition: not provided
Hereditary breast ovarian cancer syndrome
Breast and/or ovarian cancer
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA289575

rs_3092828

21 SubmittersRCV000123750 RCV000447093 RCV001103816 RCV001358583 RCV001689673 RCV002225399 RCV003149850 RCV003315838

NM_007294.4(BRCA1):c.671-8A>G

SNV
Germline

Chr17:43094868

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
not specified
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA003807

rs_80358144

12 SubmittersRCV000112769 RCV000123888 RCV000588347 RCV000580371 RCV001087483

NM_000059.4(BRCA2):c.8332-6G>T

SNV
Germline

Chr13:32370396

Conflicting classifications of pathogenicity

not specified
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
BRCA2-related disorder
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA025589

rs_587780872

9 SubmittersRCV000124008 RCV000456541 RCV000580592 RCV000663037 RCV003477532 RCV004530070 RCV005359177

NM_002485.5(NBN):c.38-10T>A

SNV
Germline

Chr8:89982865

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency
Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer

Criteria Provided
Conflicting Classifications

CA292412

rs_556807466

10 SubmittersRCV000127085 RCV000200594 RCV000733762 RCV002225409 RCV005235033

NM_024675.4(PALB2):c.1281T>C (p.Ala427=)

SNV
Germline

Chr16:23635265

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
not specified
Condition: not provided
Hereditary breast ovarian cancer syndrome
Familial cancer of breast
Fanconi anemia complementation group N
Pancreatic cancer, susceptibility to, 3

Criteria Provided
Conflicting Classifications

CA292659

rs_138697796

12 SubmittersRCV000127308 RCV000206142 RCV000212787 RCV001800420 RCV002225411 RCV002498627

NM_000455.5(STK11):c.375-7G>A

SNV
Germline

Chr19:1219317

Conflicting classifications of pathogenicity

not specified
Peutz-Jeghers syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial ovarian cancer
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA022857

rs_587781176

15 SubmittersRCV000128292 RCV000195449 RCV000580100 RCV000586954 RCV005359190 RCV006450018

NM_007194.4(CHEK2):c.283C>T (p.Arg95Ter)

SNV
Germline

Chr22:28734439

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
not specified
Malignant tumor of breast
Hereditary breast ovarian cancer syndrome
Bone osteosarcoma
Colorectal cancer
Familial cancer of breast
CHEK2-related cancer predisposition
Prostate cancer
Gastric cancer
CHEK2-related disorder
CHEK2-related cancer predisposition
Li-Fraumeni syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA163528

rs_587781269

24 SubmittersRCV000128901 RCV000215973 RCV000232015 RCV001002335 RCV001354537 RCV002225419 RCV002505102 RCV003162571 RCV004737213 RCV005414460 RCV005406834

NM_032043.3(BRIP1):c.133G>T (p.Glu45Ter)

SNV
Germline

Chr17:61859868

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group J
Condition: not provided
Breast and/or ovarian cancer
Familial cancer of breast
Ovarian cancer
Fanconi anemia complementation group J
Hereditary breast ovarian cancer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA163617

rs_587781292

11 SubmittersRCV000128992 RCV000196974 RCV000482088 RCV001798433 RCV003315866 RCV005430181 RCV005055595

NM_058216.3(RAD51C):c.80T>C (p.Leu27Pro)

SNV
Germline

Chr17:58692723

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group O
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 3
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA163703

rs_587781309

9 SubmittersRCV000129034 RCV000552582 RCV001555080 RCV004567075 RCV005604781 RCV005638443

NM_004360.5(CDH1):c.2474C>T (p.Pro825Leu)

SNV
Germline

Chr16:68833324

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary diffuse gastric adenocarcinoma
Condition: not provided
6 conditions
not specified
Familial cancer of breast
Hereditary breast ovarian cancer syndrome
Blepharocheilodontic syndrome 1

Criteria Provided
Conflicting Classifications

CA163713

rs_587781312

17 SubmittersRCV000129041 RCV000200831 RCV000478861 RCV000765309 RCV001264574 RCV002286408 RCV006605231 RCV004783749

NM_007294.4(BRCA1):c.1705A>G (p.Asn569Asp)

SNV
Germline

Chr17:43093826

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA001119

rs_587781315

5 SubmittersRCV000129047 RCV000506697 RCV000814648

NM_058216.3(RAD51C):c.577C>T (p.Arg193Ter)

SNV
Germline

Chr17:58703201

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group O
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 3
Fanconi anemia complementation group O
Hereditary breast ovarian cancer syndrome
RAD51C-related disorder
Breast carcinoma
Breast-ovarian cancer, familial, susceptibility to, 3
Inherited ovarian cancer (without breast cancer)
RAD51C-related cancer predisposition

Criteria Provided
Multiple Submitters
No Conflicts

CA333162

rs_200293302

24 SubmittersRCV000129056 RCV000203684 RCV000212943 RCV000576579 RCV000590531 RCV000778126 RCV001554248 RCV002288621 RCV004691760 RCV006554460

NM_032043.3(BRIP1):c.1871C>A (p.Ser624Ter)

SNV
Germline

Chr17:61780325

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Fanconi anemia complementation group J
Familial cancer of breast
Hereditary breast ovarian cancer syndrome
Fanconi anemia complementation group J
BRIP1-associated familial cancer predisposition
Familial cancer of breast
Malignant tumor of breast
Fanconi anemia complementation group J
Ovarian cancer
Inherited ovarian cancer (without breast cancer)

Criteria Provided
Multiple Submitters
No Conflicts

CA293947

rs_587781321

19 SubmittersRCV000129060 RCV000254651 RCV000228701 RCV000589135 RCV001781464 RCV003335111 RCV003315870 RCV003387506 RCV005430184 RCV006605232

NM_000059.4(BRCA2):c.7331A>T (p.Asp2444Val)

SNV
Germline

Chr13:32355184

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
Malignant tumor of breast
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA025033

rs_431825352

11 SubmittersRCV000129097 RCV000471031 RCV001001296 RCV001357165 RCV001576378 RCV003997479

NM_000465.4(BARD1):c.773T>C (p.Ile258Thr)

SNV
Germline

Chr2:214781101

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Hereditary breast ovarian cancer syndrome
BARD1-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA333165

rs_146223579

12 SubmittersRCV000129102 RCV000203950 RCV000588107 RCV001030670 RCV005359197

NM_000051.4(ATM):c.2149C>T (p.Arg717Trp)

SNV
Germline

Chr11:108256239

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
not specified
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA163812

rs_147515380

20 SubmittersRCV000129107 RCV000457240 RCV000586332 RCV001030521 RCV002228638 RCV003237338

NM_000051.4(ATM):c.749G>A (p.Arg250Gln)

SNV
Germline

Chr11:108244874

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Ataxia-telangiectasia syndrome
Familial cancer of breast
Condition: not provided
Breast and/or ovarian cancer
Hereditary breast ovarian cancer syndrome
Hereditary cancer

Criteria Provided
Conflicting Classifications

CA293997

rs_56123940

18 SubmittersRCV000129173 RCV000211952 RCV000204231 RCV001257469 RCV001704053 RCV001798434 RCV002225424 RCV003492586

NM_005732.4(RAD50):c.3790C>T (p.Leu1264Phe)

SNV
Germline

Chr5:132642215

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Nijmegen breakage syndrome-like disorder
Hereditary breast ovarian cancer syndrome
Ovarian cancer

Criteria Provided
Conflicting Classifications

CA163953

rs_199579239

6 SubmittersRCV000129202 RCV000662532 RCV001030512 RCV003153413

NM_007194.4(CHEK2):c.755G>A (p.Ser252Asn)

SNV
Germline

Chr22:28711946

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Familial cancer of breast
CHEK2-related cancer predisposition
Bone osteosarcoma
Prostate cancer
Hereditary breast ovarian cancer syndrome
not specified
Hereditary nonpolyposis colon cancer

Criteria Provided
Conflicting Classifications

CA163957

rs_587781379

13 SubmittersRCV000129204 RCV000214585 RCV000227256 RCV000765620 RCV001030685 RCV001201286 RCV005359200

NM_007194.4(CHEK2):c.1451C>T (p.Pro484Leu)

SNV
Germline

Chr22:28694042

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
not specified
Condition: not provided
Breast and/or ovarian cancer
CHEK2-related disorder
CHEK2-related cancer predisposition
Familial prostate cancer
Bone osteosarcoma
Li-Fraumeni syndrome
Hereditary breast ovarian cancer syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA294010

rs_564605612

17 SubmittersRCV000129213 RCV000206213 RCV000212468 RCV000590757 RCV001798435 RCV004528849 RCV005003487 RCV005365016 RCV006450020

NM_058216.3(RAD51C):c.134A>G (p.Glu45Gly)

SNV
Germline

Chr17:58692777

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group O
Breast-ovarian cancer, familial, susceptibility to, 3
Condition: not provided
not specified
Breast and/or ovarian cancer
Hereditary breast ovarian cancer syndrome
Fanconi anemia complementation group O
Breast-ovarian cancer, familial, susceptibility to, 3
Familial ovarian cancer

Criteria Provided
Conflicting Classifications

CA163967

rs_587781383

15 SubmittersRCV000129215 RCV000167882 RCV000409379 RCV000588471 RCV001778747 RCV001798436 RCV002509232 RCV005016431 RCV005600704

NM_000059.4(BRCA2):c.6287C>G (p.Pro2096Arg)

SNV
Germline

Chr13:32340642

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
not specified
Familial cancer of breast
Familial prostate cancer

Criteria Provided
Conflicting Classifications

CA023823

rs_587781396

11 SubmittersRCV000129240 RCV000472335 RCV000759640 RCV001260312 RCV002272136 RCV005359202

NM_000059.4(BRCA2):c.1070A>C (p.Glu357Ala)

SNV
Germline

Chr13:32332548

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
not specified

Criteria Provided
Conflicting Classifications

CA010740

rs_587781399

7 SubmittersRCV000129245 RCV000507748 RCV000552536 RCV003493451 RCV006273540

NM_000059.4(BRCA2):c.599C>T (p.Thr200Ile)

SNV
Germline

Chr13:32326581

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
not specified
Breast-ovarian cancer, familial, susceptibility to, 2
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA023487

rs_587781402

12 SubmittersRCV000129253 RCV000168233 RCV001577607 RCV002271413 RCV003483493 RCV004804127

NM_000059.4(BRCA2):c.9058T>C (p.Ser3020Pro)

SNV
Germline

Chr13:32379854

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA025948

rs_587781403

3 SubmittersRCV000129254 RCV001222299

NM_000059.4(BRCA2):c.4109G>A (p.Gly1370Asp)

SNV
Germline

Chr13:32338464

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA019535

rs_587781406

3 SubmittersRCV000129259 RCV001857436

NM_000059.4(BRCA2):c.8168A>T (p.Asp2723Val)

SNV
Germline

Chr13:32363370

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Genetic non-acquired premature ovarian failure
Breast and/or ovarian cancer
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA025485

rs_41293513

11 SubmittersRCV000129267 RCV000205165 RCV000216158 RCV000770915 RCV003492587 RCV003474743

NM_000059.4(BRCA2):c.4567G>A (p.Gly1523Ser)

SNV
Germline

Chr13:32338922

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA020470

rs_587781418

8 SubmittersRCV000129287 RCV000506395 RCV001204428 RCV005644521

NM_000059.4(BRCA2):c.4068G>T (p.Leu1356Phe)

SNV
Germline

Chr13:32338423

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA019462

rs_28897724

7 SubmittersRCV000129289 RCV000227395 RCV000483121 RCV003997492

NM_007294.4(BRCA1):c.2119G>C (p.Gly707Arg)

SNV
Germline

Chr17:43093412

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 1
Pancreatic cancer, susceptibility to, 4
Fanconi anemia, complementation group S

Criteria Provided
Conflicting Classifications

CA001397

rs_587781420

6 SubmittersRCV000129290 RCV001214917 RCV001800426 RCV005016433

NM_000059.4(BRCA2):c.837C>G (p.Cys279Trp)

SNV
Germline

Chr13:32332315

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA025616

rs_587781421

4 SubmittersRCV000129293 RCV000206739

NM_000059.4(BRCA2):c.437T>C (p.Leu146Pro)

SNV
Germline

Chr13:32326112

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA020071

rs_539929888

5 SubmittersRCV000129309 RCV000781114 RCV000801053 RCV003474745

NM_000059.4(BRCA2):c.6024G>C (p.Lys2008Asn)

SNV
Germline

Chr13:32340379

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
not specified
BRCA2-related cancer predisposition
8 conditions

Criteria Provided
Conflicting Classifications

CA023537

rs_56324666

11 SubmittersRCV000129322 RCV000204438 RCV000409077 RCV000590592 RCV001268978 RCV004804129 RCV005008032

NM_000059.4(BRCA2):c.869T>G (p.Val290Gly)

SNV
Germline

Chr13:32332347

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA025786

rs_587781431

3 SubmittersRCV000129323 RCV000470406

NM_000059.4(BRCA2):c.6745G>A (p.Ala2249Thr)

SNV
Germline

Chr13:32341100

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA024369

rs_587781435

5 SubmittersRCV000129329 RCV000637376 RCV003997494

NM_007294.4(BRCA1):c.2068A>G (p.Lys690Glu)

SNV
Germline

Chr17:43093463

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA001366

rs_587781448

3 SubmittersRCV000129365 RCV001069717

NM_000059.4(BRCA2):c.9433G>C (p.Val3145Leu)

SNV
Germline

Chr13:32394865

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
not specified
Hereditary breast ovarian cancer syndrome
Fanconi anemia complementation group D1
Condition: not provided
BRCA2-related disorder

Criteria Provided
Conflicting Classifications

CA026155

rs_587776476

11 SubmittersRCV000129373 RCV000144220 RCV000499802 RCV001088631 RCV001114170 RCV001353675 RCV004532550

NM_007194.4(CHEK2):c.1423T>A (p.Phe475Ile)

SNV
Germline

Chr22:28694070

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
not specified
Malignant tumor of breast
Bone osteosarcoma
Colorectal cancer
Familial cancer of breast
CHEK2-related cancer predisposition
Prostate cancer
CHEK2-related disorder
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA294041

rs_370968992

16 SubmittersRCV000129382 RCV000206734 RCV000212464 RCV000781308 RCV001356630 RCV002483259 RCV004528850 RCV004760388

NM_000059.4(BRCA2):c.5593A>G (p.Ile1865Val)

SNV
Germline

Chr13:32339948

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA022664

rs_587781455

6 SubmittersRCV000129385 RCV001849922 RCV003313041 RCV005229958

NM_000059.4(BRCA2):c.2339C>G (p.Ser780Ter)

SNV
Germline

Chr13:32336694

Pathogenic

Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary breast ovarian cancer syndrome
Malignant tumor of breast
Familial cancer of breast

Reviewed By Expert Panel

CA014999

rs_587781471

15 SubmittersRCV000129415 RCV000241405 RCV000484555 RCV000508058 RCV001356658 RCV002250567

NM_007294.4(BRCA1):c.5002T>A (p.Phe1668Ile)

SNV
Germline

Chr17:43067680

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA003150

rs_587781472

3 SubmittersRCV000129418 RCV001077429 RCV001857438

NM_000059.4(BRCA2):c.6439C>T (p.His2147Tyr)

SNV
Germline

Chr13:32340794

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA024036

rs_587781476

7 SubmittersRCV000129424 RCV000480281 RCV000545796 RCV004804130

NM_007294.4(BRCA1):c.5014C>T (p.His1672Tyr)

SNV
Germline

Chr17:43067668

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA003153

rs_587781477

7 SubmittersRCV000129426 RCV000793966 RCV001077924 RCV003477540

NM_000059.4(BRCA2):c.2274T>G (p.Ser758Arg)

SNV
Germline

Chr13:32336629

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
not specified
Breast-ovarian cancer, familial, susceptibility to, 2
Malignant tumor of breast

Criteria Provided
Conflicting Classifications

CA014830

rs_142243359

10 SubmittersRCV000129440 RCV000167883 RCV000589431 RCV000855637 RCV000989010 RCV001357461

NM_000059.4(BRCA2):c.2473A>G (p.Asn825Asp)

SNV
Germline

Chr13:32336828

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Inherited ovarian cancer (without breast cancer)

Criteria Provided
Conflicting Classifications

CA015415

rs_587781483

6 SubmittersRCV000129442 RCV000695548 RCV005600708 RCV004808592

NM_000059.4(BRCA2):c.7630G>A (p.Gly2544Ser)

SNV
Germline

Chr13:32357754

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2
not specified

Criteria Provided
Conflicting Classifications

CA025200

rs_587781485

11 SubmittersRCV000129445 RCV000161933 RCV000656622 RCV000662876 RCV000781086

NM_000059.4(BRCA2):c.4140T>G (p.Ile1380Met)

SNV
Germline

Chr13:32338495

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA019602

rs_587781488

6 SubmittersRCV000129451 RCV001046726 RCV003234769

NM_007294.4(BRCA1):c.179A>G (p.Gln60Arg)

SNV
Germline

Chr17:43106489

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA001168

rs_373655067

9 SubmittersRCV000129452 RCV000239324 RCV000637642 RCV001075967

NM_007294.4(BRCA1):c.2750T>C (p.Ile917Thr)

SNV
Germline

Chr17:43092781

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA001812

rs_587781492

7 SubmittersRCV000129456 RCV000697286 RCV000759509 RCV001175509

NM_000059.4(BRCA2):c.9071A>C (p.Asn3024Thr)

SNV
Germline

Chr13:32379867

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
8 conditions

Criteria Provided
Conflicting Classifications

CA025959

rs_587781493

4 SubmittersRCV000129458 RCV002514718 RCV002505104

NM_000059.4(BRCA2):c.8651A>G (p.Tyr2884Cys)

SNV
Germline

Chr13:32376688

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA025762

rs_587781494

3 SubmittersRCV000129459 RCV000481920 RCV000689857

NM_007294.4(BRCA1):c.799T>C (p.Ser267Pro)

SNV
Germline

Chr17:43094732

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
BRCA1-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA003882

rs_587781496

7 SubmittersRCV000129463 RCV000475894 RCV003453063 RCV004804132

NM_000249.4(MLH1):c.704A>T (p.Asp235Val)

SNV
Germline

Chr3:37014458

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Hereditary breast ovarian cancer syndrome
not specified
Condition: not provided
Ovarian cancer
Lynch syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
Muir-Torré syndrome

Criteria Provided
Conflicting Classifications

CA011774

rs_587781505

12 SubmittersRCV000129480 RCV000529021 RCV001030626 RCV001290582 RCV002285268 RCV003153416 RCV003997505 RCV005420563 RCV005359205

NM_000059.4(BRCA2):c.7877G>A (p.Trp2626Ter)

SNV
Germline

Chr13:32362594

Pathogenic

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Ovarian neoplasm
Breast carcinoma

Reviewed By Expert Panel

CA025317

rs_587781506

6 SubmittersRCV000129483 RCV000195555 RCV000240971 RCV000785229 RCV001579298

NM_000059.4(BRCA2):c.1232T>C (p.Ile411Thr)

SNV
Germline

Chr13:32332710

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA011259

rs_79597821

7 SubmittersRCV000129491 RCV001174663 RCV001343210 RCV003159101 RCV003997508

NM_000059.4(BRCA2):c.752C>G (p.Thr251Arg)

SNV
Germline

Chr13:32330989

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
not specified
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA025135

rs_587781513

8 SubmittersRCV000129492 RCV000458997 RCV000759660 RCV001260439 RCV003234770

NM_000059.4(BRCA2):c.9443C>T (p.Ala3148Val)

SNV
Germline

Chr13:32394875

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA026160

rs_587781514

5 SubmittersRCV000129493 RCV000160170 RCV000695537 RCV004567086

NM_000455.5(STK11):c.566C>T (p.Thr189Ile)

SNV
Germline

Chr19:1220474

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Peutz-Jeghers syndrome
not specified
Condition: not provided
Malignant tumor of testis
Carcinoma of pancreas
Peutz-Jeghers syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA023082

rs_587781515

14 SubmittersRCV000129498 RCV000204187 RCV000220770 RCV000587196 RCV000765431 RCV001030732

NM_007194.4(CHEK2):c.1175C>T (p.Ala392Val)

SNV
Germline

Chr22:28695794

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
not specified
Malignant tumor of breast
Hereditary breast ovarian cancer syndrome
CHEK2-related cancer predisposition
Bone osteosarcoma
CHEK2-related cancer predisposition
Familial prostate cancer

Criteria Provided
Conflicting Classifications

CA164560

rs_373073383

18 SubmittersRCV000129508 RCV000206654 RCV000589481 RCV001175352 RCV001357703 RCV003483495 RCV003493452 RCV005025208

NM_000059.4(BRCA2):c.4556C>G (p.Pro1519Arg)

SNV
Germline

Chr13:32338911

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA020427

rs_587781534

4 SubmittersRCV000129536 RCV000508530 RCV000637493

NM_000059.4(BRCA2):c.2490C>A (p.Asn830Lys)

SNV
Germline

Chr13:32336845

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA015457

rs_56331088

7 SubmittersRCV000129537 RCV000168037 RCV000411773 RCV001578080

NM_000059.4(BRCA2):c.5590G>A (p.Asp1864Asn)

SNV
Germline

Chr13:32339945

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Breast neoplasm
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
not specified

Criteria Provided
Conflicting Classifications

CA022649

rs_587781536

7 SubmittersRCV000129542 RCV000240784 RCV000456720 RCV000989040 RCV002271414

NM_000059.4(BRCA2):c.6120A>G (p.Ile2040Met)

SNV
Germline

Chr13:32340475

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA023674

rs_587781539

4 SubmittersRCV000129545 RCV001849923 RCV003159102

NM_000059.4(BRCA2):c.9041C>G (p.Ser3014Ter)

SNV
Germline

Chr13:32379837

Pathogenic

Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary breast ovarian cancer syndrome
BRCA2-related disorder
Familial cancer of breast

Reviewed By Expert Panel

CA025940

rs_80359156

11 SubmittersRCV000129551 RCV000240993 RCV000413054 RCV000559907 RCV004528851 RCV004567088

NM_007294.4(BRCA1):c.-1A>C

SNV
Germline

Chr17:43124097

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA001331

rs_587781565

3 SubmittersRCV000129589 RCV001072287 RCV002055842

NM_000059.4(BRCA2):c.2918C>A (p.Ser973Ter)

SNV
Germline

Chr13:32337273

Pathogenic

Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
8 conditions

Reviewed By Expert Panel

CA016767

rs_397507296

5 SubmittersRCV000129596 RCV000241198 RCV000688560 RCV004796028

NM_000059.4(BRCA2):c.4892A>T (p.Lys1631Ile)

SNV
Germline

Chr13:32339247

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA020958

rs_587781573

3 SubmittersRCV000129607 RCV003529989

NM_000059.4(BRCA2):c.5465A>T (p.Asn1822Ile)

SNV
Germline

Chr13:32339820

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
not specified
Breast-ovarian cancer, familial, susceptibility to, 2
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA022364

rs_587781580

11 SubmittersRCV000129617 RCV000199798 RCV000588979 RCV001375483 RCV003315878 RCV004804133

NM_000059.4(BRCA2):c.6308C>G (p.Ser2103Ter)

SNV
Germline/somatic

Chr13:32340663

Pathogenic

Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary breast ovarian cancer syndrome
Neoplasm

Reviewed By Expert Panel

CA023846

rs_80358870

5 SubmittersRCV000129618 RCV000241268 RCV000657723 RCV002512530 RCV004668791

NM_000059.4(BRCA2):c.4886C>T (p.Thr1629Ile)

SNV
Germline

Chr13:32339241

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified

Criteria Provided
Conflicting Classifications

CA020949

rs_587781581

4 SubmittersRCV000129619 RCV001034948 RCV003150948

NM_000059.4(BRCA2):c.1153A>G (p.Lys385Glu)

SNV
Germline

Chr13:32332631

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified

Criteria Provided
Conflicting Classifications

CA010980

rs_80358411

6 SubmittersRCV000129633 RCV000637741 RCV002247506

NM_007294.4(BRCA1):c.3167C>G (p.Ser1056Cys)

SNV
Germline

Chr17:43092364

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
BRCA1-related cancer predisposition
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA002062

rs_587781588

5 SubmittersRCV000129634 RCV004804134 RCV006629083

NM_000059.4(BRCA2):c.971G>A (p.Arg324Lys)

SNV
Germline

Chr13:32332449

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary breast ovarian cancer syndrome
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA026280

rs_397507435

9 SubmittersRCV000129650 RCV000216915 RCV000409872 RCV000589361 RCV000637477 RCV004804135

NM_000059.4(BRCA2):c.4969A>G (p.Asn1657Asp)

SNV
Germline

Chr13:32339324

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA021079

rs_587781599

6 SubmittersRCV000129665 RCV000530830 RCV000588301

NM_000059.4(BRCA2):c.4252A>G (p.Ile1418Val)

SNV
Germline

Chr13:32338607

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA019793

rs_143667871

5 SubmittersRCV000129676 RCV000815760 RCV005630717

NM_000059.4(BRCA2):c.9119T>C (p.Val3040Ala)

SNV
Germline

Chr13:32380008

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Hereditary breast ovarian cancer syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA025999

rs_587781606

5 SubmittersRCV000129686 RCV000508531 RCV001548512 RCV000702465 RCV003460900

NM_000059.4(BRCA2):c.6479A>G (p.Gln2160Arg)

SNV
Germline

Chr13:32340834

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Pancreatic cancer, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA024096

rs_587781610

6 SubmittersRCV000129697 RCV000700192 RCV003483496 RCV005365019

NM_000051.4(ATM):c.5488A>G (p.Met1830Val)

SNV
Germline

Chr11:108303021

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Familial pancreatic carcinoma
not specified
ATM-related disorder

Criteria Provided
Conflicting Classifications

CA164960

rs_587781622

12 SubmittersRCV000129712 RCV000199250 RCV000590655 RCV001030597 RCV001357265 RCV002307401 RCV004551247

NM_000059.4(BRCA2):c.1909+1G>A

SNV
Germline

Chr13:32333388

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Breast-ovarian cancer, familial, susceptibility to, 2
Gastric cancer
8 conditions
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA013828

rs_587781629

17 SubmittersRCV000129734 RCV000160183 RCV000204822 RCV000210109 RCV000238861 RCV003162573 RCV002492497 RCV003474753

NM_007294.4(BRCA1):c.2905A>G (p.Asn969Asp)

SNV
Germline

Chr17:43092626

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
BRCA1-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA001892

rs_587781641

6 SubmittersRCV000129768 RCV000462250 RCV003987369 RCV004804137

NM_000059.4(BRCA2):c.2014A>G (p.Arg672Gly)

SNV
Germline

Chr13:32336369

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
not specified

Criteria Provided
Conflicting Classifications

CA014119

rs_587781647

7 SubmittersRCV000129778 RCV000160042 RCV000456158 RCV001375553

NM_007194.4(CHEK2):c.485A>G (p.Asp162Gly)

SNV
Germline

Chr22:28725084

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
not specified
Hereditary breast ovarian cancer syndrome
Bone osteosarcoma
Familial prostate cancer
CHEK2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA165091

rs_587781652

11 SubmittersRCV000129786 RCV000461401 RCV000480654 RCV000780181 RCV003993818 RCV005025209

NM_024675.4(PALB2):c.3508C>T (p.His1170Tyr)

SNV
Germline

Chr16:23603512

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
not specified
Breast-ovarian cancer, familial, susceptibility to, 5
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA294118

rs_200283306

20 SubmittersRCV000129794 RCV000212829 RCV000226949 RCV001818304 RCV005359213 RCV004760389

NM_007294.4(BRCA1):c.4858A>G (p.Thr1620Ala)

SNV
Germline

Chr17:43071056

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
BRCA1-related cancer predisposition
Condition: not provided

Criteria Provided
Conflicting Classifications

CA003055

rs_8176219

8 SubmittersRCV000129815 RCV000555169 RCV001375594 RCV004804138 RCV005222761

NM_000059.4(BRCA2):c.695A>G (p.Tyr232Cys)

SNV
Germline

Chr13:32330932

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
not specified
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA024642

rs_372188754

10 SubmittersRCV000129831 RCV000200246 RCV000656999 RCV001824639 RCV003997527

NM_007294.4(BRCA1):c.2252T>C (p.Met751Thr)

SNV
Germline

Chr17:43093279

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
not specified
Hereditary breast ovarian cancer syndrome
BRCA1-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA001508

rs_587781684

10 SubmittersRCV000129847 RCV000239259 RCV000759501 RCV000780974 RCV001083025 RCV004804140

NM_000059.4(BRCA2):c.2792G>A (p.Gly931Glu)

SNV
Germline

Chr13:32337147

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA016375

rs_587781685

3 SubmittersRCV000129848 RCV001857442

NM_004360.5(CDH1):c.1930G>A (p.Asp644Asn)

SNV
Germline

Chr16:68822219

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary diffuse gastric adenocarcinoma
Condition: not provided
Hereditary breast ovarian cancer syndrome
Familial cancer of breast
Ovarian cancer
Familial cancer of breast
not specified

Criteria Provided
Conflicting Classifications

CA165250

rs_587781696

11 SubmittersRCV000129863 RCV000231981 RCV000588229 RCV001030613 RCV004567098 RCV005359216 RCV006456719

NM_007294.4(BRCA1):c.1336A>G (p.Arg446Gly)

SNV
Germline

Chr17:43094195

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA000873

rs_587781715

8 SubmittersRCV000129893 RCV000695651 RCV000679680 RCV003335117

NM_000059.4(BRCA2):c.8183T>C (p.Val2728Ala)

SNV
Germline

Chr13:32363385

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2
not specified
Familial prostate cancer

Criteria Provided
Conflicting Classifications

CA025496

rs_587781719

10 SubmittersRCV000129903 RCV000463515 RCV000523831 RCV000663059 RCV001251367 RCV005359220

NM_007294.4(BRCA1):c.1016A>C (p.Lys339Thr)

SNV
Germline

Chr17:43094515

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
not specified
BRCA1-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA000687

rs_587781737

8 SubmittersRCV000129938 RCV000472230 RCV000587998 RCV002281952 RCV004804141

NM_000179.3(MSH6):c.2226C>G (p.Asn742Lys)

SNV
Germline

Chr2:47800209

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Hereditary breast ovarian cancer syndrome
Condition: not provided
Endometrial carcinoma
Mismatch repair cancer syndrome 3
Lynch syndrome 5
not specified

Criteria Provided
Conflicting Classifications

CA009877

rs_587781739

7 SubmittersRCV000129942 RCV000693873 RCV001030494 RCV001552395 RCV005025211 RCV004782244

NM_002878.4(RAD51D):c.451C>T (p.Gln151Ter)

SNV
Germline

Chr17:35107017

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 4
Condition: not provided
Breast and/or ovarian cancer
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Multiple Submitters
No Conflicts

CA165449

rs_587781756

14 SubmittersRCV000129970 RCV000409676 RCV000485836 RCV001271048 RCV002281953 RCV005861056

NM_000059.4(BRCA2):c.6013G>T (p.Asp2005Tyr)

SNV
Germline

Chr13:32340368

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
not specified
BRCA2-related cancer predisposition
8 conditions

Criteria Provided
Conflicting Classifications

CA023516

rs_587781760

9 SubmittersRCV000129979 RCV000472369 RCV000985554 RCV003235055 RCV004804142 RCV005406838

NM_000059.4(BRCA2):c.8782G>T (p.Ala2928Ser)

SNV
Germline

Chr13:32379344

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Familial cancer of breast
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA025825

rs_587781762

7 SubmittersRCV000129984 RCV000479709 RCV000544583 RCV004567101 RCV004804143

NM_000059.4(BRCA2):c.4987G>C (p.Val1663Leu)

SNV
Germline

Chr13:32339342

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
Condition: not provided
8 conditions
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA021111

rs_587781763

9 SubmittersRCV000129985 RCV000167888 RCV000483840 RCV000766617 RCV005008034 RCV004804144

NM_007294.4(BRCA1):c.3415A>C (p.Ser1139Arg)

SNV
Germline

Chr17:43092116

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA002207

rs_587781765

4 SubmittersRCV000129992 RCV001304792

NM_007294.4(BRCA1):c.1097A>T (p.Asp366Val)

SNV
Germline

Chr17:43094434

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA000733

rs_587781769

5 SubmittersRCV000130000 RCV001298276 RCV006259042

NM_007294.4(BRCA1):c.5321A>G (p.Asn1774Ser)

SNV
Germline

Chr17:43051074

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA003474

rs_587781770

4 SubmittersRCV000130002 RCV001076797 RCV001857443

NM_007294.4(BRCA1):c.2679G>T (p.Lys893Asn)

SNV
Germline

Chr17:43092852

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
BRCA1-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA001759

rs_587781771

4 SubmittersRCV000130004 RCV000474988 RCV004804145

NM_000059.4(BRCA2):c.4070T>G (p.Leu1357Arg)

SNV
Germline

Chr13:32338425

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
not specified
Breast and/or ovarian cancer

Criteria Provided
Conflicting Classifications

CA019466

rs_55796504

10 SubmittersRCV000130026 RCV000160072 RCV000409740 RCV000462928 RCV000781066 RCV001798438

NM_007294.4(BRCA1):c.2203C>G (p.Leu735Val)

SNV
Germline

Chr17:43093328

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA001472

rs_587781781

9 SubmittersRCV000130031 RCV000637351 RCV001199912 RCV001560449 RCV003997542

NM_000059.4(BRCA2):c.1666A>G (p.Asn556Asp)

SNV
Germline

Chr13:32333144

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
not specified
Familial cancer of breast
BRCA2-related disorder
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA012839

rs_587781794

10 SubmittersRCV000130055 RCV000543145 RCV000587388 RCV001549274 RCV002250568 RCV004544293 RCV003997544

NM_032043.3(BRIP1):c.2543G>A (p.Arg848His)

SNV
Germline

Chr17:61693462

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group J
Condition: not provided
Fanconi anemia complementation group J
Neurodevelopmental delay
Familial cancer of breast
Hereditary breast ovarian cancer syndrome
Ovarian cancer
Fanconi anemia complementation group J
not specified

Criteria Provided
Conflicting Classifications

CA165626

rs_374334794

15 SubmittersRCV000130056 RCV000699539 RCV001194712 RCV001255230 RCV002273958 RCV003460909 RCV004760390 RCV005430189 RCV006273544

NM_000059.4(BRCA2):c.1376T>C (p.Leu459Ser)

SNV
Germline

Chr13:32332854

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA011821

rs_587781799

7 SubmittersRCV000130063 RCV000231284 RCV000483293 RCV002509235

NM_000059.4(BRCA2):c.8834A>G (p.Gln2945Arg)

SNV
Germline

Chr13:32379396

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Condition: not provided
Fanconi anemia complementation group D1
not specified
Familial cancer of breast
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA025844

rs_587781800

11 SubmittersRCV000130065 RCV000410010 RCV000462799 RCV000487119 RCV001112819 RCV001193118 RCV004567103 RCV004804146

NM_000059.4(BRCA2):c.1765A>C (p.Lys589Gln)

SNV
Germline

Chr13:32333243

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA013152

rs_587781801

4 SubmittersRCV000130066 RCV000558175 RCV003997546

NM_002878.4(RAD51D):c.796C>T (p.Arg266Cys)

SNV
Germline

Chr17:35101308

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 4
not specified
Malignant tumor of breast
Hereditary site-specific ovarian cancer syndrome
RAD51D-related disorder
Hereditary breast ovarian cancer syndrome
Breast and/or ovarian cancer
Cancer or benign tumor

Criteria Provided
Conflicting Classifications

CA165670

rs_587781813

27 SubmittersRCV000130084 RCV000255993 RCV000411407 RCV001193713 RCV001357548 RCV002508924 RCV003891666 RCV003483498 RCV003492595 RCV005625306

NM_024675.4(PALB2):c.1955G>A (p.Ser652Asn)

SNV
Germline

Chr16:23630199

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group N
Hereditary breast ovarian cancer syndrome
Condition: not provided
not specified
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA165693

rs_587781818

12 SubmittersRCV000130094 RCV000226926 RCV000302799 RCV001030649 RCV000842453 RCV001030271 RCV001358211

NM_000059.4(BRCA2):c.5691G>T (p.Leu1897Phe)

SNV
Germline

Chr13:32340046

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA022992

rs_587781826

3 SubmittersRCV000130107 RCV000798649

NM_000059.4(BRCA2):c.1993A>G (p.Thr665Ala)

SNV
Germline

Chr13:32336348

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Condition: not provided
not specified
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA014092

rs_144192844

10 SubmittersRCV000130109 RCV000239179 RCV000466395 RCV000586597 RCV001420707 RCV004804147

NM_007294.4(BRCA1):c.766A>T (p.Arg256Trp)

SNV
Germline

Chr17:43094765

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA003856

rs_587781833

6 SubmittersRCV000130123 RCV000474139 RCV003493454

NM_000059.4(BRCA2):c.2947C>A (p.Pro983Thr)

SNV
Germline

Chr13:32337302

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA016868

rs_587781848

4 SubmittersRCV000130152 RCV003529990

NM_002878.4(RAD51D):c.196G>A (p.Val66Met)

SNV
Germline

Chr17:35118568

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 4
not specified
Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast and/or ovarian cancer
RAD51D-related disorder

Criteria Provided
Conflicting Classifications

CA165840

rs_56026142

17 SubmittersRCV000130161 RCV000225779 RCV000238834 RCV001030594 RCV001284344 RCV001798441 RCV003952682

NM_000059.4(BRCA2):c.7879A>G (p.Ile2627Val)

SNV
Germline

Chr13:32362596

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA025320

rs_80359014

2 SubmittersRCV000130167 RCV001857444

NM_007294.4(BRCA1):c.4677G>C (p.Glu1559Asp)

SNV
Germline

Chr17:43071237

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA002972

rs_587781876

4 SubmittersRCV000130202 RCV003997555 RCV005089639 RCV006450021

NM_000059.4(BRCA2):c.8115C>G (p.Ser2705Arg)

SNV
Germline

Chr13:32363317

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA025458

rs_587781889

6 SubmittersRCV000130221 RCV000411253 RCV000796695 RCV003237738

NM_000059.4(BRCA2):c.4090A>G (p.Ile1364Val)

SNV
Germline

Chr13:32338445

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast and/or ovarian cancer
not specified

Criteria Provided
Conflicting Classifications

CA019501

rs_56248502

10 SubmittersRCV000130224 RCV000410854 RCV000557623 RCV000587668 RCV001170463 RCV006452439

NM_000059.4(BRCA2):c.4531G>A (p.Glu1511Lys)

SNV
Germline

Chr13:32338886

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Condition: not provided
not specified
BRCA2-related disorder

Criteria Provided
Conflicting Classifications

CA020330

rs_376338226

13 SubmittersRCV000130226 RCV000411643 RCV000476816 RCV000589639 RCV001263513 RCV004732694

NM_000059.4(BRCA2):c.8542G>C (p.Glu2848Gln)

SNV
Germline

Chr13:32371010

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast and/or ovarian cancer
Condition: not provided
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA025701

rs_587781893

5 SubmittersRCV000130229 RCV000257963 RCV000768608 RCV003477542 RCV005365024

NM_000059.4(BRCA2):c.9369C>A (p.Ser3123Arg)

SNV
Germline

Chr13:32394801

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA026118

rs_587781901

2 SubmittersRCV000130239 RCV001849930

NM_000051.4(ATM):c.2495G>A (p.Arg832His)

SNV
Germline

Chr11:108267199

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided
not specified
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA166023

rs_199875915

8 SubmittersRCV000130241 RCV000168264 RCV000483469 RCV001174859 RCV004760391

NM_000059.4(BRCA2):c.1783C>T (p.His595Tyr)

SNV
Germline

Chr13:32333261

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA013198

rs_587781906

3 SubmittersRCV000130245 RCV001305959

NM_007294.4(BRCA1):c.2684A>G (p.Gln895Arg)

SNV
Germline

Chr17:43092847

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA001765

rs_587781914

3 SubmittersRCV000130257 RCV001849931

NM_000059.4(BRCA2):c.2522G>A (p.Arg841Lys)

SNV
Germline

Chr13:32336877

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA015536

rs_587781915

8 SubmittersRCV000130258 RCV000205313 RCV000663004 RCV001284076 RCV001532896

NM_007294.4(BRCA1):c.135-5T>C

SNV
Germline

Chr17:43106538

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer

Criteria Provided
Conflicting Classifications

CA000901

rs_587781916

8 SubmittersRCV000130259 RCV000200745 RCV000236507 RCV000989914 RCV005235037

NM_000059.4(BRCA2):c.7706G>A (p.Gly2569Asp)

SNV
Germline

Chr13:32357830

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
not specified
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA025238

rs_587781943

8 SubmittersRCV000130311 RCV000526968 RCV001284443 RCV001824641 RCV004804149

NM_000465.4(BARD1):c.1921C>T (p.Arg641Ter)

SNV
Germline

Chr2:214730491

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Triple-Negative Breast Cancer Finding
Hereditary breast ovarian cancer syndrome
Malignant tumor of breast
Gastric cancer
BARD1-related cancer predisposition

Criteria Provided
Multiple Submitters
No Conflicts

CA166173

rs_587781948

19 SubmittersRCV000130318 RCV000234673 RCV000236005 RCV000678227 RCV000781932 RCV001355804 RCV003162583 RCV005600720

NM_000059.4(BRCA2):c.6289A>G (p.Thr2097Ala)

SNV
Germline

Chr13:32340644

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
BRCA2-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA023825

rs_587781965

6 SubmittersRCV000130344 RCV001062323 RCV001535459 RCV003237739

NM_000465.4(BARD1):c.1409A>G (p.Asn470Ser)

SNV
Germline

Chr2:214767641

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
not specified
Hereditary breast ovarian cancer syndrome
BARD1-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA333223

rs_587781976

17 SubmittersRCV000130369 RCV000197585 RCV000212130 RCV001174926 RCV002225431 RCV005600721

NM_007294.4(BRCA1):c.1534C>G (p.Leu512Val)

SNV
Germline

Chr17:43093997

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA001034

rs_41286294

11 SubmittersRCV000130372 RCV000198821 RCV000662675 RCV000758787 RCV004525876

NM_032043.3(BRIP1):c.2441G>A (p.Arg814His)

SNV
Germline

Chr17:61716002

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Fanconi anemia complementation group J
Familial cancer of breast
Fanconi anemia complementation group J
Hereditary breast ovarian cancer syndrome
Malignant tumor of breast
not specified
Familial cancer of breast
Ovarian cancer
Familial ovarian cancer

Criteria Provided
Conflicting Classifications

CA166286

rs_45468199

13 SubmittersRCV000130375 RCV000218503 RCV000234009 RCV000410258 RCV001030534 RCV001356230 RCV003320104 RCV003315890 RCV005430192 RCV005600722

NM_000059.4(BRCA2):c.9986A>G (p.Asn3329Ser)

SNV
Germline

Chr13:32398499

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
BRCA2-related cancer predisposition
BRCA2-related disorder

Criteria Provided
Conflicting Classifications

CA026352

rs_76635144

12 SubmittersRCV000130425 RCV000197376 RCV000425781 RCV000989093 RCV001704055 RCV004804150 RCV004724827

NM_000059.4(BRCA2):c.5492T>C (p.Ile1831Thr)

SNV
Germline

Chr13:32339847

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Condition: not provided
BRCA2-related disorder
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA022439

rs_587782007

16 SubmittersRCV000130427 RCV000160091 RCV000409845 RCV000459937 RCV000766626 RCV004532560 RCV004804151

NM_007294.4(BRCA1):c.3750G>C (p.Glu1250Asp)

SNV
Germline

Chr17:43091781

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA002403

rs_145903082

8 SubmittersRCV000130432 RCV000159882 RCV000555879 RCV003998058 RCV005416330

NM_000059.4(BRCA2):c.8608C>T (p.Gln2870Ter)

SNV
Germline

Chr13:32371076

Pathogenic

Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA025733

rs_587782010

3 SubmittersRCV000130433 RCV000241135 RCV005089642

NM_000059.4(BRCA2):c.2593G>C (p.Glu865Gln)

SNV
Germline

Chr13:32336948

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
Breast-ovarian cancer, familial, susceptibility to, 2
BRCA2-related cancer predisposition
Condition: not provided

Criteria Provided
Conflicting Classifications

CA015745

rs_587782014

8 SubmittersRCV000130440 RCV000557017 RCV001193993 RCV001770104 RCV004804152 RCV005229963

NM_000059.4(BRCA2):c.2660A>G (p.Glu887Gly)

SNV
Germline

Chr13:32337015

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA015980

rs_587782015

8 SubmittersRCV000130441 RCV000486429 RCV000637382 RCV003998059 RCV004804153

NM_000059.4(BRCA2):c.1001A>G (p.His334Arg)

SNV
Germline

Chr13:32332479

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
8 conditions

Criteria Provided
Conflicting Classifications

CA010039

rs_587782016

8 SubmittersRCV000130442 RCV000198970 RCV000410354 RCV000985455 RCV002492503

NM_007294.4(BRCA1):c.5349G>A (p.Met1783Ile)

SNV
Germline

Chr17:43049178

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA003517

rs_587782019

7 SubmittersRCV000130448 RCV000587916 RCV001073104 RCV001849935

NM_000059.4(BRCA2):c.8902A>G (p.Thr2968Ala)

SNV
Germline

Chr13:32379464

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Condition: not provided
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA025864

rs_587782021

11 SubmittersRCV000130450 RCV000160160 RCV000410479 RCV000557418 RCV000588120 RCV004804154

NM_007294.4(BRCA1):c.5470A>G (p.Ile1824Val)

SNV
Germline

Chr17:43045800

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 1
Familial cancer of breast
Pancreatic cancer, susceptibility to, 4
Fanconi anemia, complementation group S
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA003629

rs_587782026

8 SubmittersRCV000130459 RCV000168345 RCV000481196 RCV000765356 RCV001076289

NM_007294.4(BRCA1):c.2396A>G (p.Asn799Ser)

SNV
Germline

Chr17:43093135

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA001593

rs_587782027

5 SubmittersRCV000130461 RCV000590796 RCV000700778 RCV003998060

NM_000059.4(BRCA2):c.8825C>T (p.Ala2942Val)

SNV
Germline

Chr13:32379387

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Fanconi anemia complementation group D1
Breast-ovarian cancer, familial, susceptibility to, 2
not specified
Condition: not provided
BRCA2-related disorder
Familial cancer of breast
8 conditions

Criteria Provided
Conflicting Classifications

CA025840

rs_373227180

15 SubmittersRCV000130462 RCV000233879 RCV000356690 RCV000409083 RCV000780004 RCV001775622 RCV004532561 RCV004567114 RCV005008035

NM_007294.4(BRCA1):c.2710G>C (p.Glu904Gln)

SNV
Germline

Chr17:43092821

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA001785

rs_80357035

4 SubmittersRCV000130465 RCV000229677

NM_000059.4(BRCA2):c.5650A>T (p.Ile1884Phe)

SNV
Germline

Chr13:32340005

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA022850

rs_398122538

4 SubmittersRCV000130467 RCV000795400

NM_000059.4(BRCA2):c.7777G>T (p.Gly2593Ter)

SNV
Germline

Chr13:32357901

Pathogenic

Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA025271

rs_587782028

5 SubmittersRCV000130472 RCV000241421 RCV000499832 RCV001380613

NM_000059.4(BRCA2):c.5444C>T (p.Thr1815Ile)

SNV
Germline

Chr13:32339799

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA022341

rs_587782031

7 SubmittersRCV000130479 RCV000800814 RCV002466442

NM_000455.5(STK11):c.559G>A (p.Gly187Ser)

SNV
Germline

Chr19:1220467

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Peutz-Jeghers syndrome
Condition: not provided
not specified
Malignant tumor of breast
Hereditary cancer
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA023076

rs_587782032

15 SubmittersRCV000130480 RCV000198594 RCV000590446 RCV000855607 RCV001358086 RCV003492602 RCV006261732

NM_007194.4(CHEK2):c.1169A>C (p.Tyr390Ser)

SNV
Germline

Chr22:28695800

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Hereditary breast ovarian cancer syndrome
Premature ovarian failure
Malignant tumor of breast
Prostate cancer
CHEK2-related cancer predisposition

Criteria Provided
Multiple Submitters
No Conflicts

CA166521

rs_200928781

18 SubmittersRCV000130486 RCV000206869 RCV000222009 RCV001175336 RCV001270242 RCV001355927 RCV001787089 RCV003448269

NM_000059.4(BRCA2):c.6737C>G (p.Pro2246Arg)

SNV
Germline

Chr13:32341092

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA024354

rs_587782038

7 SubmittersRCV000130498 RCV000531111 RCV003998061 RCV004998269

NM_000059.4(BRCA2):c.1880C>T (p.Ala627Val)

SNV
Germline

Chr13:32333358

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA013703

rs_587782055

3 SubmittersRCV000130526 RCV001315911

NM_000059.4(BRCA2):c.1279G>C (p.Asp427His)

SNV
Germline

Chr13:32332757

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified

Criteria Provided
Conflicting Classifications

CA011443

rs_147797288

4 SubmittersRCV000130527 RCV000699217 RCV001175560

NM_000059.4(BRCA2):c.1078C>G (p.Pro360Ala)

SNV
Germline

Chr13:32332556

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA010756

rs_587782057

9 SubmittersRCV000130533 RCV000588217 RCV000689505 RCV003998062

NM_000059.4(BRCA2):c.5231G>T (p.Ser1744Ile)

SNV
Germline

Chr13:32339586

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
not specified
Condition: not provided
8 conditions

Criteria Provided
Conflicting Classifications

CA021814

rs_587782060

10 SubmittersRCV000130537 RCV000198995 RCV000410002 RCV000590786 RCV001284091 RCV002505110

NM_000059.4(BRCA2):c.2366A>G (p.Lys789Arg)

SNV
Germline

Chr13:32336721

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Malignant tumor of breast

Criteria Provided
Conflicting Classifications

CA015045

rs_587782062

8 SubmittersRCV000130544 RCV000690062 RCV000679161 RCV001356886

NM_000059.4(BRCA2):c.5131G>A (p.Val1711Ile)

SNV
Germline

Chr13:32339486

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA021369

rs_587782067

6 SubmittersRCV000130552 RCV000586102 RCV000797822

NM_007194.4(CHEK2):c.279G>A (p.Trp93Ter)

SNV
Germline

Chr22:28734443

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Breast and colorectal cancer, susceptibility to
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Multiple Submitters
No Conflicts

CA166650

rs_587782070

12 SubmittersRCV000130559 RCV000199638 RCV000377793 RCV001267682 RCV002228315 RCV004668792

NM_000059.4(BRCA2):c.1144A>C (p.Lys382Gln)

SNV
Germline

Chr13:32332622

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
not specified
Fanconi anemia complementation group D1
Breast and/or ovarian cancer
Malignant tumor of breast
Condition: not provided
BRCA2-related disorder

Criteria Provided
Conflicting Classifications

CA010932

rs_371454630

12 SubmittersRCV000130560 RCV000195524 RCV000238792 RCV000500188 RCV001112103 RCV001170455 RCV001353620 RCV002227070 RCV004532563

NM_000059.4(BRCA2):c.3775A>C (p.Ser1259Arg)

SNV
Germline

Chr13:32338130

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA018788

rs_587782071

4 SubmittersRCV000130561 RCV000213541 RCV006555470

NM_000059.4(BRCA2):c.3329A>T (p.Glu1110Val)

SNV
Germline

Chr13:32337684

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
not specified
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA017795

rs_587782072

8 SubmittersRCV000130562 RCV000478180 RCV000637374 RCV001193169 RCV003998063

NM_000051.4(ATM):c.4279G>A (p.Ala1427Thr)

SNV
Germline

Chr11:108289644

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Ataxia-telangiectasia syndrome
Familial cancer of breast
Hereditary breast ovarian cancer syndrome
not specified
Familial cancer of breast
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

CA166697

rs_2229021

16 SubmittersRCV000130581 RCV000222514 RCV000467455 RCV001257474 RCV002225432 RCV002307403 RCV005042259

NM_000059.4(BRCA2):c.9206G>T (p.Cys3069Phe)

SNV
Germline

Chr13:32380095

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA026032

rs_587782091

8 SubmittersRCV000130600 RCV000205419 RCV000215969 RCV003998067 RCV004567120

NM_000059.4(BRCA2):c.8332-3C>G

SNV
Germline

Chr13:32370399

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA025586

rs_587782093

4 SubmittersRCV000130604 RCV000758959 RCV000810256 RCV003474768

NM_007294.4(BRCA1):c.713A>G (p.His238Arg)

SNV
Germline

Chr17:43094818

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA003830

rs_587782094

4 SubmittersRCV000130605 RCV001857450

NM_000059.4(BRCA2):c.2312T>G (p.Leu771Ter)

SNV
Germline

Chr13:32336667

Pathogenic

Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Condition: not provided

Reviewed By Expert Panel

CA014913

rs_587782095

8 SubmittersRCV000130606 RCV000241179 RCV000496732 RCV000657630

NM_000059.4(BRCA2):c.9981A>T (p.Lys3327Asn)

SNV
Germline

Chr13:32398494

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA026351

rs_587782098

6 SubmittersRCV000130611 RCV000434493 RCV001342071 RCV004806079

NM_000059.4(BRCA2):c.1006G>A (p.Ala336Thr)

SNV
Germline

Chr13:32332484

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA010131

rs_587782100

8 SubmittersRCV000130613 RCV000410382 RCV000809632 RCV001775624 RCV001800435

NM_000179.3(MSH6):c.3689C>G (p.Ala1230Gly)

SNV
Germline

Chr2:47806246

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA013825

rs_587782117

4 SubmittersRCV000130636 RCV000556805 RCV001030499

NM_007294.4(BRCA1):c.727A>G (p.Asn243Asp)

SNV
Germline

Chr17:43094804

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA003837

rs_587782123

3 SubmittersRCV000130660 RCV002514733

NM_007294.4(BRCA1):c.2657C>G (p.Ser886Cys)

SNV
Germline

Chr17:43092874

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
not specified
BRCA1-related cancer predisposition
Breast-ovarian cancer, familial, susceptibility to, 1
Pancreatic cancer, susceptibility to, 4
Fanconi anemia, complementation group S

Criteria Provided
Conflicting Classifications

CA001739

rs_587782134

9 SubmittersRCV000130679 RCV000500522 RCV000793766 RCV004700443 RCV004804155 RCV005016444

NM_000059.4(BRCA2):c.6607G>T (p.Val2203Phe)

SNV
Germline

Chr13:32340962

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA024209

rs_587782136

4 SubmittersRCV000130684 RCV003114283

NM_000059.4(BRCA2):c.11G>A (p.Gly4Glu)

SNV
Germline

Chr13:32316471

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA011142

rs_587782137

2 SubmittersRCV000130687 RCV000537170

NM_000059.4(BRCA2):c.1700C>T (p.Thr567Ile)

SNV
Germline

Chr13:32333178

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA012932

rs_587782139

3 SubmittersRCV000130692 RCV002514734

NM_000051.4(ATM):c.2005T>C (p.Cys669Arg)

SNV
Germline

Chr11:108253920

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Ataxia-telangiectasia syndrome
Familial cancer of breast
Ataxia-telangiectasia syndrome
Hereditary breast ovarian cancer syndrome
Familial colorectal cancer type X

Criteria Provided
Conflicting Classifications

CA166922

rs_587782141

8 SubmittersRCV000130699 RCV000485416 RCV000549496 RCV005042261 RCV004764769 RCV005359243

NM_000059.4(BRCA2):c.2449A>C (p.Lys817Gln)

SNV
Germline

Chr13:32336804

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA015318

rs_587782142

3 SubmittersRCV000130700 RCV003529991

NM_000059.4(BRCA2):c.2233A>G (p.Lys745Glu)

SNV
Germline

Chr13:32336588

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA014707

rs_374691587

11 SubmittersRCV000130703 RCV000160045 RCV000197517 RCV000410547 RCV000985472 RCV004804156

NM_002878.4(RAD51D):c.629C>T (p.Ala210Val)

SNV
Germline

Chr17:35103492

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 4
not specified
Condition: not provided
Malignant tumor of breast
Hereditary breast ovarian cancer syndrome
RAD51D-related disorder
Familial ovarian cancer

Criteria Provided
Conflicting Classifications

CA166969

rs_376855484

19 SubmittersRCV000130714 RCV000412230 RCV000484961 RCV000657049 RCV001354066 RCV002509237 RCV004751279 RCV005600725

NM_032043.3(BRIP1):c.1442G>A (p.Gly481Asp)

SNV
Germline

Chr17:61793628

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Fanconi anemia complementation group J
not specified
Hereditary breast ovarian cancer syndrome
Fanconi anemia complementation group J
Familial cancer of breast
BRIP1-related disorder
Ovarian cancer
Fanconi anemia complementation group J

Criteria Provided
Conflicting Classifications

CA294222

rs_200062099

17 SubmittersRCV000130729 RCV000212311 RCV000469846 RCV000780054 RCV001030540 RCV001124864 RCV003315897 RCV004732695 RCV005430196

NM_007194.4(CHEK2):c.556A>C (p.Asn186His)

SNV
Germline

Chr22:28725013

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Bone osteosarcoma
Familial cancer of breast
CHEK2-related cancer predisposition
Prostate cancer
Condition: not provided
not specified
Endometrial carcinoma
Hereditary breast ovarian cancer syndrome
CHEK2-related disorder
Predisposition to cancer

Criteria Provided
Conflicting Classifications

CA294225

rs_146198085

25 SubmittersRCV000130733 RCV000198345 RCV000515236 RCV000589669 RCV000855592 RCV001356295 RCV002225433 RCV004532565 RCV005055077

NM_000059.4(BRCA2):c.6428C>T (p.Ser2143Leu)

SNV
Germline

Chr13:32340783

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA024021

rs_149330893

4 SubmittersRCV000130744 RCV001857453 RCV004804157

NM_000059.4(BRCA2):c.2290G>C (p.Glu764Gln)

SNV
Germline

Chr13:32336645

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
not specified

Criteria Provided
Conflicting Classifications

CA014892

rs_587782158

6 SubmittersRCV000130748 RCV000409830 RCV001203704 RCV001375608

NM_000059.4(BRCA2):c.1381G>A (p.Glu461Lys)

SNV
Germline

Chr13:32332859

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
not specified

Criteria Provided
Conflicting Classifications

CA011830

rs_587782159

6 SubmittersRCV000130749 RCV000410640 RCV001203705 RCV001375609

NM_007294.4(BRCA1):c.5371G>T (p.Val1791Leu)

SNV
Germline

Chr17:43049156

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Fanconi anemia, complementation group S
Pancreatic cancer, susceptibility to, 4

Criteria Provided
Conflicting Classifications

CA003539

rs_145758886

8 SubmittersRCV000130773 RCV000210112 RCV000637444 RCV005016446

NM_007294.4(BRCA1):c.301+1G>A

SNV
Germline

Chr17:43104867

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
not specified
Condition: not provided
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA001964

rs_587782173

13 SubmittersRCV000130778 RCV000258401 RCV000506017 RCV000489155 RCV000545203

NM_000059.4(BRCA2):c.6818G>A (p.Arg2273Lys)

SNV
Germline

Chr13:32341173

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
8 conditions
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA024446

rs_587782174

7 SubmittersRCV000130779 RCV000501677 RCV000765132 RCV001857455

NM_000059.4(BRCA2):c.6143A>C (p.Asn2048Thr)

SNV
Germline

Chr13:32340498

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA023693

rs_80358853

6 SubmittersRCV000130782 RCV000637735 RCV001284098 RCV003998077

NM_000059.4(BRCA2):c.5002G>A (p.Ala1668Thr)

SNV
Germline

Chr13:32339357

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA021125

rs_587782182

4 SubmittersRCV000130804 RCV000821456

NM_000059.4(BRCA2):c.6361G>A (p.Glu2121Lys)

SNV
Germline

Chr13:32340716

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA023952

rs_587782183

4 SubmittersRCV000130806 RCV000496406 RCV002514737

NM_000059.4(BRCA2):c.4373A>G (p.His1458Arg)

SNV
Germline

Chr13:32338728

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA020055

rs_587782185

10 SubmittersRCV000130812 RCV000238654 RCV000469193 RCV000486756 RCV001280646

NM_000059.4(BRCA2):c.4957A>G (p.Thr1653Ala)

SNV
Germline

Chr13:32339312

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
not specified
Hereditary breast ovarian cancer syndrome
Condition: not provided
Malignant tumor of breast
8 conditions

Criteria Provided
Conflicting Classifications

CA021061

rs_587782186

13 SubmittersRCV000130816 RCV000210984 RCV000496784 RCV000637549 RCV001283929 RCV001354039 RCV005008037

NM_007294.4(BRCA1):c.3535A>C (p.Lys1179Gln)

SNV
Germline

Chr17:43091996

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA002262

rs_587782188

4 SubmittersRCV000130818 RCV000196802 RCV000412247

NM_000059.4(BRCA2):c.3904A>G (p.Thr1302Ala)

SNV
Germline

Chr13:32338259

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
BRCA2-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA019114

rs_543339423

9 SubmittersRCV000130823 RCV000255972 RCV000663001 RCV000698088 RCV003330504 RCV005431481

NM_007294.4(BRCA1):c.3800T>C (p.Leu1267Ser)

SNV
Germline

Chr17:43091731

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
BRCA1-related cancer predisposition
not specified

Criteria Provided
Conflicting Classifications

CA002448

rs_587782190

11 SubmittersRCV000130824 RCV000460978 RCV000589536 RCV004804158 RCV005055600

NM_007194.4(CHEK2):c.1597A>G (p.Thr533Ala)

SNV
Germline

Chr22:28687932

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Hereditary breast ovarian cancer syndrome
Familial cancer of breast
CHEK2-related disorder
CHEK2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA167185

rs_562517792

14 SubmittersRCV000130825 RCV000415925 RCV000781307 RCV001030618 RCV001084280 RCV004737222 RCV005359246

NM_024675.4(PALB2):c.3257G>A (p.Arg1086Gln)

SNV
Germline

Chr16:23607957

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
not specified
Hereditary breast ovarian cancer syndrome
PALB2-related disorder
Fanconi anemia complementation group N
Breast-ovarian cancer, familial, susceptibility to, 5
Pancreatic cancer, susceptibility to, 3

Criteria Provided
Conflicting Classifications

CA294240

rs_146377793

17 SubmittersRCV000130835 RCV000203792 RCV000590502 RCV000855603 RCV002225436 RCV004739448 RCV005016447

NM_000059.4(BRCA2):c.7507G>A (p.Val2503Ile)

SNV
Germline

Chr13:32356499

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2
not specified
BRCA2-related disorder
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA025124

rs_587782191

18 SubmittersRCV000130837 RCV000459125 RCV000479926 RCV000662953 RCV000779919 RCV004528856 RCV005365030

NM_000455.5(STK11):c.817G>A (p.Ala273Thr)

SNV
Germline

Chr19:1221295

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Peutz-Jeghers syndrome
Condition: not provided
Generalized juvenile polyposis/juvenile polyposis coli
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA023284

rs_587782199

12 SubmittersRCV000130859 RCV000196939 RCV000587949 RCV001356427 RCV005089644

NM_000059.4(BRCA2):c.3494A>G (p.His1165Arg)

SNV
Germline

Chr13:32337849

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA018167

rs_587782201

9 SubmittersRCV000130862 RCV000230802 RCV000410985 RCV000483928 RCV000779959

NM_000059.4(BRCA2):c.2999T>C (p.Ile1000Thr)

SNV
Germline

Chr13:32337354

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast and/or ovarian cancer
Malignant tumor of breast

Criteria Provided
Conflicting Classifications

CA016996

rs_374769365

9 SubmittersRCV000130892 RCV000257906 RCV000587614 RCV000768593 RCV001353934

NM_000059.4(BRCA2):c.2980G>A (p.Ala994Thr)

SNV
Germline

Chr13:32337335

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA016949

rs_587782223

8 SubmittersRCV000130914 RCV001053941 RCV001293577 RCV002464121 RCV003998084

NM_002878.4(RAD51D):c.620C>T (p.Ser207Leu)

SNV
Germline

Chr17:35103501

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 4
Condition: not provided
Hereditary breast ovarian cancer syndrome
Malignant tumor of breast
Breast and/or ovarian cancer
RAD51D-related disorder
RAD51D-related cancer predisposition
Familial ovarian cancer

Criteria Provided
Conflicting Classifications

CA167404

rs_370228071

29 SubmittersRCV000130934 RCV000204202 RCV000590382 RCV000722123 RCV001270344 RCV001798446 RCV004751280 RCV006554467 RCV005600727

NM_000059.4(BRCA2):c.5365A>G (p.Lys1789Glu)

SNV
Germline

Chr13:32339720

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified

Criteria Provided
Conflicting Classifications

CA022152

rs_587782240

5 SubmittersRCV000130942 RCV000198002 RCV000781107

NM_007294.4(BRCA1):c.3970A>T (p.Met1324Leu)

SNV
Germline

Chr17:43091561

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA002546

rs_587782241

7 SubmittersRCV000130943 RCV000460345 RCV000508593 RCV000663100 RCV001800440

NM_000059.4(BRCA2):c.2558A>G (p.Gln853Arg)

SNV
Germline

Chr13:32336913

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA015641

rs_56245590

7 SubmittersRCV000130947 RCV000211539 RCV001001212 RCV004772843

NM_000455.5(STK11):c.842C>T (p.Pro281Leu)

SNV
Germline

Chr19:1221320

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Peutz-Jeghers syndrome
not specified
Hereditary breast ovarian cancer syndrome
Condition: not provided
Ovarian cancer

Criteria Provided
Conflicting Classifications

CA023305

rs_121913322

15 SubmittersRCV000130951 RCV000232126 RCV000235215 RCV001030733 RCV001719902 RCV003153424

NM_000059.4(BRCA2):c.6076A>G (p.Thr2026Ala)

SNV
Germline

Chr13:32340431

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA023608

rs_587782249

4 SubmittersRCV000130958 RCV001367383

NM_000051.4(ATM):c.5890A>G (p.Lys1964Glu)

SNV
Germline

Chr11:108310287

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
not specified
Familial cancer of breast
Ataxia-telangiectasia syndrome
Malignant tumor of breast
Endometrial carcinoma
Familial cancer of breast
Condition: not provided
Breast and/or ovarian cancer
Hereditary cancer
Hereditary breast ovarian cancer syndrome
ATM-related disorder

Criteria Provided
Conflicting Classifications

CA294264

rs_201963507

20 SubmittersRCV000130965 RCV000197688 RCV000212034 RCV000515322 RCV001269498 RCV001357333 RCV002288644 RCV003390822 RCV003492610 RCV003492611 RCV003483502 RCV004551259

NM_000546.6(TP53):c.916C>T (p.Arg306Ter)

SNV
Germline/somatic

Chr17:7673704

Pathogenic

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Condition: not provided
Ovarian neoplasm
Lip and oral cavity carcinoma
Li-Fraumeni syndrome 1
Hereditary breast ovarian cancer syndrome
Gastric cancer
Lung adenocarcinoma
Neoplasm
Ovarian serous cystadenocarcinoma
Familial cancer of breast
Malignant tumor of esophagus
Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype

Criteria Provided
Multiple Submitters
No Conflicts

CA000495

rs_121913344

22 SubmittersRCV000130997 RCV000232963 RCV000356380 RCV000785333 RCV001255680 RCV001310214 RCV002307404 RCV003162584 RCV003322599 RCV004668794 RCV005886923 RCV005886921 RCV005886922 RCV006253815

NM_032043.3(BRIP1):c.854A>G (p.His285Arg)

SNV
Germline

Chr17:61808531

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Fanconi anemia complementation group J
Familial cancer of breast
Fanconi anemia complementation group J
not specified
Malignant tumor of breast
Hereditary breast ovarian cancer syndrome
Familial cancer of breast
BRIP1-related disorder
Ovarian cancer

Criteria Provided
Conflicting Classifications

CA167682

rs_141055990

19 SubmittersRCV000131157 RCV000220964 RCV000231925 RCV000411077 RCV000781177 RCV001356435 RCV002225442 RCV003315902 RCV004732697 RCV005430197

NM_002485.5(NBN):c.171+4T>C

SNV
Germline

Chr8:89982718

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency
Condition: not provided
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA167713

rs_587782290

11 SubmittersRCV000131170 RCV000205676 RCV000590607 RCV005359252

NM_000051.4(ATM):c.7328G>A (p.Arg2443Gln)

SNV
Germline

Chr11:108330234

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided
Familial cancer of breast
ATM-related disorder
not specified
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA167770

rs_587782310

14 SubmittersRCV000131203 RCV000230833 RCV000236663 RCV003462010 RCV004551261 RCV005237570 RCV006261699

NM_000059.4(BRCA2):c.9364G>A (p.Ala3122Thr)

SNV
Germline

Chr13:32394796

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary breast ovarian cancer syndrome
Malignant tumor of breast
not specified

Criteria Provided
Conflicting Classifications

CA026116

rs_587782313

11 SubmittersRCV000131208 RCV000238950 RCV000485860 RCV001085485 RCV001355914 RCV001804852

NM_007194.4(CHEK2):c.1036C>T (p.Arg346Cys)

SNV
Germline

Chr22:28696960

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Bone osteosarcoma
Familial cancer of breast
CHEK2-related cancer predisposition
Prostate cancer
Malignant tumor of breast
Hereditary breast ovarian cancer syndrome
not specified
Breast and/or ovarian cancer
Breast-ovarian cancer, familial, susceptibility to, 1
CHEK2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA294328

rs_201206424

27 SubmittersRCV000131219 RCV000212445 RCV000232903 RCV000764379 RCV001355624 RCV001374553 RCV002465532 RCV003492617 RCV005861059 RCV005416111

NM_000059.4(BRCA2):c.5870T>C (p.Ile1957Thr)

SNV
Germline

Chr13:32340225

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2
BRCA2-related cancer predisposition
8 conditions
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA023326

rs_587782320

15 SubmittersRCV000131227 RCV000476757 RCV000496609 RCV001200385 RCV003483505 RCV004804160 RCV005008038 RCV005359255

NM_000051.4(ATM):c.3919G>A (p.Gly1307Arg)

SNV
Germline

Chr11:108284399

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
not specified
Malignant tumor of breast
Condition: not provided
Breast and/or ovarian cancer
Hereditary breast ovarian cancer syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA167867

rs_568451087

12 SubmittersRCV000131248 RCV000234723 RCV000608362 RCV001356054 RCV001704057 RCV001798449 RCV002225443 RCV004589630

NM_000465.4(BARD1):c.1127C>T (p.Ser376Leu)

SNV
Germline

Chr2:214780747

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
not specified
Hereditary breast ovarian cancer syndrome
BARD1-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA167877

rs_587782333

13 SubmittersRCV000131256 RCV000199235 RCV000236301 RCV001251335 RCV005251077 RCV005359256

NM_007294.4(BRCA1):c.3584A>G (p.His1195Arg)

SNV
Germline

Chr17:43091947

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA002285

rs_28897685

6 SubmittersRCV000131273 RCV000199465 RCV001194453 RCV003998096

NM_000059.4(BRCA2):c.6938-15A>G

SNV
Germline

Chr13:32346812

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA024588

rs_587782358

3 SubmittersRCV000131308 RCV000233095

NM_000059.4(BRCA2):c.6823G>A (p.Glu2275Lys)

SNV
Germline

Chr13:32341178

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
not specified

Criteria Provided
Conflicting Classifications

CA024463

rs_587782362

9 SubmittersRCV000131323 RCV000160121 RCV000812168 RCV003998101 RCV003321516

NM_000059.4(BRCA2):c.8099T>C (p.Ile2700Thr)

SNV
Germline

Chr13:32363301

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA025453

rs_587782365

2 SubmittersRCV000131327 RCV003644908

NM_007294.4(BRCA1):c.4735C>G (p.Pro1579Ala)

SNV
Germline

Chr17:43071179

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
not specified
Breast-ovarian cancer, familial, susceptibility to, 1
BRCA1-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA002998

rs_145466894

10 SubmittersRCV000131339 RCV000230767 RCV000588895 RCV000855579 RCV004567132 RCV004804161

NM_007294.4(BRCA1):c.2638G>C (p.Glu880Gln)

SNV
Germline

Chr17:43092893

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA001731

rs_587782370

6 SubmittersRCV000131341 RCV001328387 RCV001222005 RCV001284391

NM_000059.4(BRCA2):c.5683G>A (p.Glu1895Lys)

SNV
Germline

Chr13:32340038

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast neoplasm
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2
not specified
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA022970

rs_146351301

11 SubmittersRCV000131358 RCV000227239 RCV000240768 RCV000590426 RCV000999647 RCV002265617 RCV003607244

NM_000059.4(BRCA2):c.3296C>A (p.Ser1099Ter)

SNV
Germline

Chr13:32337651

Pathogenic

Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA017728

rs_397507663

6 SubmittersRCV000131361 RCV000241055 RCV001582605 RCV001857460

NM_007294.4(BRCA1):c.4934G>C (p.Arg1645Thr)

SNV
Germline

Chr17:43070980

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary breast ovarian cancer syndrome
Malignant tumor of breast
BRCA1-related disorder

Criteria Provided
Conflicting Classifications

CA003087

rs_70953661

12 SubmittersRCV000131365 RCV000255486 RCV000410761 RCV000589552 RCV001081541 RCV001354024 RCV004554713

NM_000059.4(BRCA2):c.5536A>G (p.Ile1846Val)

SNV
Germline

Chr13:32339891

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
not specified
Condition: not provided
Hereditary breast ovarian cancer syndrome
Familial pancreatic carcinoma

Criteria Provided
Conflicting Classifications

CA022506

rs_587782375

13 SubmittersRCV000131366 RCV000210966 RCV000506172 RCV000588246 RCV001088770 RCV005359262

NM_000546.6(TP53):c.542G>A (p.Arg181His)

SNV
Germline/somatic

Chr17:7675070

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Condition: not provided
Li-Fraumeni syndrome 1
Squamous cell carcinoma of the head and neck
Carcinoma of pancreas
Familial cancer of breast
Adrenocortical carcinoma, hereditary
Hereditary breast ovarian cancer syndrome
TP53-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA000259

rs_397514495

28 SubmittersRCV000131382 RCV000168247 RCV000255239 RCV000576528 RCV000989718 RCV001391195 RCV001527471 RCV003462011 RCV005089647 RCV004745211

NM_032043.3(BRIP1):c.2400C>G (p.Tyr800Ter)

SNV
Germline

Chr17:61716043

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group J
Condition: not provided
Fanconi anemia complementation group J
Breast and/or ovarian cancer
Breast-ovarian cancer, familial, susceptibility to, 1
Ovarian cancer
Familial cancer of breast
Hereditary breast ovarian cancer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA294369

rs_574552037

18 SubmittersRCV000131417 RCV000205848 RCV000254652 RCV000588697 RCV001270930 RCV002272137 RCV003155923 RCV003335124 RCV005359265

NM_032043.3(BRIP1):c.2765T>G (p.Leu922Ter)

SNV
Germline

Chr17:61685976

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Fanconi anemia complementation group J
Familial cancer of breast
Fanconi anemia complementation group J
Hereditary breast ovarian cancer syndrome
Familial cancer of breast
Ovarian cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA168171

rs_587782410

16 SubmittersRCV000131449 RCV000216847 RCV000410978 RCV000468535 RCV000588116 RCV002288648 RCV005430200

NM_007194.4(CHEK2):c.497A>G (p.Asn166Ser)

SNV
Germline

Chr22:28725072

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
CHEK2-related disorder
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA168184

rs_587782413

9 SubmittersRCV000131455 RCV000197451 RCV002262750 RCV004737225 RCV005251078

NM_002485.5(NBN):c.1354A>C (p.Thr452Pro)

SNV
Germline

Chr8:89955326

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency
not specified
Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer
NBN-related disorder

Criteria Provided
Conflicting Classifications

CA294382

rs_141137543

17 SubmittersRCV000131458 RCV000199946 RCV000212747 RCV000735122 RCV002225444 RCV003492622 RCV003905237

NM_000059.4(BRCA2):c.3556G>A (p.Val1186Ile)

SNV
Germline

Chr13:32337911

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
Condition: not provided
Malignant tumor of breast
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA018342

rs_587782420

11 SubmittersRCV000131471 RCV000168159 RCV000502658 RCV000985507 RCV001353460 RCV003998106

NM_000059.4(BRCA2):c.1352G>A (p.Ser451Asn)

SNV
Germline

Chr13:32332830

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA011709

rs_587782422

3 SubmittersRCV000131473 RCV000474836

NM_007294.4(BRCA1):c.5481G>A (p.Met1827Ile)

SNV
Germline

Chr17:43045789

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 1
See cases
Fanconi anemia, complementation group S
Breast-ovarian cancer, familial, susceptibility to, 1
Pancreatic cancer, susceptibility to, 4
Fanconi anemia, complementation group S

Criteria Provided
Conflicting Classifications

CA003651

rs_587782432

13 SubmittersRCV000131490 RCV000533729 RCV000985444 RCV001076304 RCV002251996 RCV005359271 RCV005016450

NM_000059.4(BRCA2):c.9593G>A (p.Cys3198Tyr)

SNV
Germline

Chr13:32396989

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA026226

rs_587782435

3 SubmittersRCV000131494 RCV000411555 RCV001240911

NM_024675.4(PALB2):c.2257C>T (p.Arg753Ter)

SNV
Germline

Chr16:23629897

Pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Hereditary breast ovarian cancer syndrome
Malignant tumor of breast
Gastric cancer
Breast and/or ovarian cancer
PALB2-related disorder
Breast-ovarian cancer, familial, susceptibility to, 5

Criteria Provided
Multiple Submitters
No Conflicts

CA168247

rs_180177110

29 SubmittersRCV000131502 RCV000236519 RCV000466579 RCV000824730 RCV001264577 RCV003162588 RCV003492624 RCV004739453 RCV004597749

NM_000059.4(BRCA2):c.2524G>C (p.Val842Leu)

SNV
Germline

Chr13:32336879

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
not specified
Condition: not provided
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA015544

rs_587782454

10 SubmittersRCV000131527 RCV000238749 RCV000462356 RCV000501377 RCV000758877 RCV004804653

NM_007294.4(BRCA1):c.5147A>G (p.Tyr1716Cys)

SNV
Germline

Chr17:43063879

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA003271

rs_587782456

5 SubmittersRCV000131529 RCV000486773 RCV000637366 RCV001077662

NM_007294.4(BRCA1):c.3596C>T (p.Ala1199Val)

SNV
Germline

Chr17:43091935

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
not specified
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA002294

rs_587782458

9 SubmittersRCV000131543 RCV000236315 RCV000416536 RCV002265618 RCV002250569

NM_024675.4(PALB2):c.18G>T (p.Gly6=)

SNV
Germline

Chr16:23641140

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Hereditary breast ovarian cancer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA168342

rs_587782462

15 SubmittersRCV000131549 RCV000432017 RCV000557471 RCV002265620

NM_007194.4(CHEK2):c.1489G>A (p.Asp497Asn)

SNV
Germline

Chr22:28689188

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
not specified
CHEK2-related disorder
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA168377

rs_143965148

16 SubmittersRCV000131571 RCV000203702 RCV000586318 RCV001175355 RCV004528859 RCV004760393

NM_007194.4(CHEK2):c.707T>C (p.Leu236Pro)

SNV
Germline

Chr22:28711994

Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Hereditary breast ovarian cancer syndrome
Condition: not provided
Familial cancer of breast
CHEK2-related cancer predisposition
Hereditary breast ovarian cancer syndrome
Predisposition to cancer
CHEK2-related cancer predisposition
CHEK2-related disorder
Familial prostate cancer
Bone osteosarcoma
CHEK2-related cancer predisposition

Criteria Provided
Multiple Submitters
No Conflicts

CA294400

rs_587782471

23 SubmittersRCV000131577 RCV000199653 RCV000212433 RCV000586622 RCV000791342 RCV003153427 RCV003389239 RCV004737226 RCV005025215

NM_032043.3(BRIP1):c.317G>A (p.Arg106His)

SNV
Germline

Chr17:61857120

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Familial cancer of breast
Fanconi anemia complementation group J
Hereditary breast ovarian cancer syndrome
Familial cancer of breast
Breast and/or ovarian cancer
BRIP1-related disorder
Ovarian cancer
Fanconi anemia complementation group J

Criteria Provided
Conflicting Classifications

CA168409

rs_143615668

14 SubmittersRCV000131589 RCV000220020 RCV000588637 RCV001082225 RCV002225445 RCV003315912 RCV003492626 RCV004532572 RCV005430202

NM_000059.4(BRCA2):c.2341A>C (p.Asn781His)

SNV
Germline

Chr13:32336696

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA015005

rs_587782485

5 SubmittersRCV000131604 RCV000697994 RCV000985476 RCV001420793

NM_058216.3(RAD51C):c.835G>C (p.Ala279Pro)

SNV
Germline

Chr17:58709988

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group O
Breast-ovarian cancer, familial, susceptibility to, 3
RAD51C-related disorder
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA168535

rs_587782507

7 SubmittersRCV000131650 RCV000168079 RCV003467178 RCV004532573 RCV005638448

NM_024675.4(PALB2):c.3296C>G (p.Thr1099Arg)

SNV
Germline

Chr16:23607918

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Familial cancer of breast
Condition: not provided
Fanconi anemia complementation group N
Fanconi anemia complementation group N
Pancreatic cancer, susceptibility to, 3
Familial cancer of breast
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA168538

rs_142132127

24 SubmittersRCV000131652 RCV000235868 RCV000410212 RCV000657014 RCV001294230 RCV002478400 RCV005411346 RCV005359278

NM_000059.4(BRCA2):c.8042C>G (p.Thr2681Arg)

SNV
Germline

Chr13:32363244

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
not specified
Fanconi anemia complementation group D1
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA025420

rs_587782519

11 SubmittersRCV000131690 RCV000168172 RCV000239323 RCV000724545 RCV000781102 RCV001114096 RCV003462020

NM_007194.4(CHEK2):c.499G>A (p.Gly167Arg)

SNV
Germline

Chr22:28725070

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Breast and colorectal cancer, susceptibility to
Condition: not provided
Breast carcinoma
Predisposition to cancer
Malignant tumor of breast
Hereditary breast ovarian cancer syndrome
Bone osteosarcoma
CHEK2-related cancer predisposition
Familial prostate cancer
Hereditary nonpolyposis colon cancer
CHEK2-related cancer predisposition

Criteria Provided
Multiple Submitters
No Conflicts

CA294427

rs_72552322

27 SubmittersRCV000131700 RCV000200030 RCV000210071 RCV000212424 RCV001554290 RCV002291570 RCV003987371 RCV004764770 RCV005025216 RCV005359279 RCV004776433

NM_000059.4(BRCA2):c.4695G>T (p.Lys1565Asn)

SNV
Germline

Chr13:32339050

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA020660

rs_587782522

11 SubmittersRCV000131707 RCV000200646 RCV000239158 RCV000481655 RCV000781154

NM_058216.3(RAD51C):c.97C>T (p.Gln33Ter)

SNV
Germline

Chr17:58692740

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group O
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 3
Hereditary breast ovarian cancer syndrome
Fanconi anemia complementation group O
Breast-ovarian cancer, familial, susceptibility to, 3
Inherited ovarian cancer (without breast cancer)

Criteria Provided
Multiple Submitters
No Conflicts

CA294435

rs_587782528

16 SubmittersRCV000131716 RCV000196217 RCV000212932 RCV000410098 RCV000589795 RCV002505114 RCV004808593

NM_000051.4(ATM):c.5753G>C (p.Arg1918Thr)

SNV
Germline

Chr11:108307975

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided
not specified
Familial cancer of breast
ATM-related disorder
Familial cancer of breast
Ataxia-telangiectasia syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA168653

rs_148064985

25 SubmittersRCV000131724 RCV000199373 RCV000587454 RCV001705933 RCV003467183 RCV004551266 RCV005042274 RCV005604782 RCV006605233

NM_000059.4(BRCA2):c.1466C>G (p.Ser489Cys)

SNV
Germline

Chr13:32332944

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast and/or ovarian cancer
Fanconi anemia complementation group D1
Hereditary breast ovarian cancer syndrome
not specified
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA012149

rs_587782535

15 SubmittersRCV000131739 RCV000198082 RCV000586148 RCV001170456 RCV001535543 RCV003321517 RCV003493458

NM_000535.7(PMS2):c.1243G>A (p.Val415Met)

SNV
Germline

Chr7:5987522

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
not specified
Lynch syndrome 4
Endometrial carcinoma
Mismatch repair cancer syndrome 1
Lynch syndrome 4
Hereditary breast ovarian cancer syndrome
Hereditary nonpolyposis colon cancer
PMS2-related disorder

Criteria Provided
Conflicting Classifications

CA009419

rs_138387687

20 SubmittersRCV000131757 RCV000198383 RCV000586259 RCV000855605 RCV000987834 RCV001355081 RCV001535477 RCV002275085 RCV003323294 RCV004742274

NM_032043.3(BRIP1):c.3508C>G (p.Leu1170Val)

SNV
Germline

Chr17:61683538

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group J
Familial cancer of breast
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA168724

rs_587782552

3 SubmittersRCV000131766 RCV000706879 RCV001030463

NM_024675.4(PALB2):c.3350+5G>A

SNV
Germline

Chr16:23607859

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 5
PALB2-related disorder
Fanconi anemia complementation group N
Breast-ovarian cancer, familial, susceptibility to, 5
Pancreatic cancer, susceptibility to, 3

Criteria Provided
Multiple Submitters
No Conflicts

CA168760

rs_587782566

14 SubmittersRCV000131789 RCV000526519 RCV001824643 RCV004998280 RCV005359282 RCV004739459 RCV004796031

NM_000059.4(BRCA2):c.9493A>G (p.Thr3165Ala)

SNV
Germline

Chr13:32394925

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Fanconi anemia complementation group D1
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA026176

rs_587782568

8 SubmittersRCV000131791 RCV000483383 RCV000657154 RCV001110139 RCV001082356 RCV001110138

NM_005732.4(RAD50):c.3496C>T (p.Arg1166Trp)

SNV
Germline

Chr5:132638101

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
Condition: not provided
Nijmegen breakage syndrome-like disorder

Criteria Provided
Conflicting Classifications

CA333277

rs_587782577

7 SubmittersRCV000131805 RCV001030511 RCV002271419 RCV003477556 RCV004567144

NM_000059.4(BRCA2):c.3770C>T (p.Pro1257Leu)

SNV
Germline

Chr13:32338125

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
not specified

Criteria Provided
Conflicting Classifications

CA018762

rs_587782581

6 SubmittersRCV000131915 RCV001215437 RCV003998118 RCV006268622

NM_000059.4(BRCA2):c.2623G>A (p.Val875Ile)

SNV
Germline

Chr13:32336978

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA015888

rs_587782582

8 SubmittersRCV000131916 RCV000512784 RCV001360763 RCV003998119

NM_000059.4(BRCA2):c.5624A>G (p.Lys1875Arg)

SNV
Germline

Chr13:32339979

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA022730

rs_587782583

5 SubmittersRCV000131917 RCV000223072 RCV000688314

NM_000059.4(BRCA2):c.5159C>A (p.Ser1720Ter)

SNV
Germline

Chr13:32339514

Pathogenic

Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Condition: not provided

Reviewed By Expert Panel

CA021429

rs_80358740

10 SubmittersRCV000131919 RCV000238884 RCV000459811 RCV000657663

NM_000059.4(BRCA2):c.6938-5C>T

SNV
Germline

Chr13:32346822

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA024595

rs_587782585

3 SubmittersRCV000131924 RCV001284585 RCV001420009

NM_000059.4(BRCA2):c.7849A>G (p.Arg2617Gly)

SNV
Germline

Chr13:32362566

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA025307

rs_587782588

3 SubmittersRCV000131927 RCV001222317 RCV004567145

NM_000059.4(BRCA2):c.1936A>C (p.Ser646Arg)

SNV
Germline

Chr13:32336291

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA013962

rs_587782589

5 SubmittersRCV000131928 RCV000555622 RCV004998281 RCV005359283

NM_007294.4(BRCA1):c.2076T>A (p.His692Gln)

SNV
Germline

Chr17:43093455

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA001374

rs_587782595

4 SubmittersRCV000131939 RCV001306826

NM_000059.4(BRCA2):c.5903C>T (p.Ser1968Leu)

SNV
Germline

Chr13:32340258

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
Breast-ovarian cancer, familial, susceptibility to, 2
8 conditions
Condition: not provided

Criteria Provided
Conflicting Classifications

CA023356

rs_587782597

8 SubmittersRCV000131945 RCV000532143 RCV000779958 RCV003998122 RCV005008039 RCV006259053

NM_007294.4(BRCA1):c.889A>G (p.Met297Val)

SNV
Germline

Chr17:43094642

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary breast ovarian cancer syndrome
not specified

Criteria Provided
Conflicting Classifications

CA003950

rs_80357196

8 SubmittersRCV000131947 RCV000239288 RCV000486631 RCV000549625 RCV004562302

NM_000059.4(BRCA2):c.9395A>G (p.Lys3132Arg)

SNV
Germline

Chr13:32394827

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA026136

rs_587782599

3 SubmittersRCV000131952 RCV000690318

NM_000059.4(BRCA2):c.5498A>G (p.Asn1833Ser)

SNV
Germline

Chr13:32339853

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2
BRCA2-related cancer predisposition
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA022451

rs_587782601

12 SubmittersRCV000131959 RCV000206165 RCV000432115 RCV000985250 RCV003444206 RCV004804656 RCV005359285

NM_007294.4(BRCA1):c.4361T>C (p.Val1454Ala)

SNV
Germline

Chr17:43076611

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA002800

rs_587782606

7 SubmittersRCV000131975 RCV000199725 RCV000411768 RCV000486159 RCV000781008

NM_000059.4(BRCA2):c.8798G>A (p.Arg2933Lys)

SNV
Germline

Chr13:32379360

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA025828

rs_553440338

3 SubmittersRCV000131983 RCV000637406

NM_000059.4(BRCA2):c.10211G>A (p.Cys3404Tyr)

SNV
Germline

Chr13:32398724

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA010473

rs_587782614

5 SubmittersRCV000131989 RCV000637786 RCV002267883 RCV006259054

NM_007294.4(BRCA1):c.380G>T (p.Ser127Ile)

SNV
Germline

Chr17:43104183

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA002456

rs_80357189

5 SubmittersRCV000132000 RCV000227715 RCV003998125

NM_000059.4(BRCA2):c.8299C>T (p.Pro2767Ser)

SNV
Germline

Chr13:32363501

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA025557

rs_587782619

6 SubmittersRCV000132002 RCV000587651 RCV001237414 RCV003998126

NM_000059.4(BRCA2):c.6424T>C (p.Ser2142Pro)

SNV
Germline

Chr13:32340779

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA024019

rs_587782624

4 SubmittersRCV000132008 RCV000637648

NM_000251.3(MSH2):c.1846C>T (p.Pro616Ser)

SNV
Germline

Chr2:47475111

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Hereditary breast ovarian cancer syndrome
Condition: not provided
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA019428

rs_587782627

5 SubmittersRCV000132012 RCV000629677 RCV001030712 RCV003129784 RCV003998127

NM_007294.4(BRCA1):c.3127A>G (p.Asn1043Asp)

SNV
Germline

Chr17:43092404

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA002044

rs_587782630

4 SubmittersRCV000132015 RCV001342041 RCV004998282

NM_007294.4(BRCA1):c.3956G>A (p.Gly1319Asp)

SNV
Germline

Chr17:43091575

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified

Criteria Provided
Conflicting Classifications

CA002533

rs_587782634

4 SubmittersRCV000132023 RCV000804939 RCV005406841

NM_000059.4(BRCA2):c.5671G>A (p.Ala1891Thr)

SNV
Germline

Chr13:32340026

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA022929

rs_587782644

4 SubmittersRCV000132043 RCV003483507 RCV006461588

NM_000059.4(BRCA2):c.3908G>A (p.Gly1303Asp)

SNV
Germline

Chr13:32338263

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA019126

rs_587782645

6 SubmittersRCV000132046 RCV000168154 RCV000989024 RCV004804658

NM_000059.4(BRCA2):c.1439G>A (p.Cys480Tyr)

SNV
Germline

Chr13:32332917

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA012042

rs_587782648

3 SubmittersRCV000132056 RCV000637628

NM_000059.4(BRCA2):c.3671G>T (p.Gly1224Val)

SNV
Germline

Chr13:32338026

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA018515

rs_587782670

5 SubmittersRCV000132093 RCV000703489 RCV000985511

NM_000465.4(BARD1):c.95G>T (p.Gly32Val)

SNV
Germline

Chr2:214809475

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Hereditary breast ovarian cancer syndrome
not specified
BARD1-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA169260

rs_587782675

9 SubmittersRCV000132101 RCV000542693 RCV001030676 RCV001174898 RCV005359289

NM_000059.4(BRCA2):c.7580T>C (p.Val2527Ala)

SNV
Germline

Chr13:32356572

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome
8 conditions
Pancreatic cancer, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA025161

rs_587782676

6 SubmittersRCV000132102 RCV000508502 RCV000637450 RCV005008040 RCV005365038

NM_000465.4(BARD1):c.1212C>G (p.Tyr404Ter)

SNV
Germline

Chr2:214780662

Pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Hereditary breast ovarian cancer syndrome
BARD1-related disorder
BARD1-related cancer predisposition

Criteria Provided
Multiple Submitters
No Conflicts

CA169272

rs_587782681

17 SubmittersRCV000132107 RCV000195626 RCV000413940 RCV001201181 RCV003945152 RCV005359290

NM_000059.4(BRCA2):c.977G>A (p.Ser326Asn)

SNV
Germline

Chr13:32332455

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA026295

rs_587782691

6 SubmittersRCV000132125 RCV000588060 RCV003644909 RCV005359292

NM_007194.4(CHEK2):c.1217G>A (p.Arg406His)

SNV
Germline

Chr22:28695752

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Hereditary breast ovarian cancer syndrome
Familial cancer of breast
Malignant tumor of breast
Breast and/or ovarian cancer
Bone osteosarcoma

Criteria Provided
Conflicting Classifications

CA169341

rs_200649225

15 SubmittersRCV000132141 RCV000215450 RCV000780184 RCV001030623 RCV001086106 RCV001355781 RCV003149911 RCV005644522

NM_000059.4(BRCA2):c.754G>A (p.Asp252Asn)

SNV
Germline

Chr13:32330991

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA025142

rs_549269828

8 SubmittersRCV000132172 RCV000409025 RCV000694838 RCV001570057

NM_007294.4(BRCA1):c.3022A>C (p.Met1008Leu)

SNV
Germline

Chr17:43092509

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA001980

rs_56321129

4 SubmittersRCV000132178 RCV001236226

NM_007294.4(BRCA1):c.2056G>T (p.Glu686Ter)

SNV
Germline

Chr17:43093475

Pathogenic

Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Condition: not provided

Reviewed By Expert Panel

CA001362

rs_587782709

4 SubmittersRCV000132180 RCV000241207 RCV001069876 RCV001781477

NM_000059.4(BRCA2):c.1714G>A (p.Val572Ile)

SNV
Germline

Chr13:32333192

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Condition: not provided
BRCA2-related cancer predisposition
not specified

Criteria Provided
Conflicting Classifications

CA012979

rs_587782713

13 SubmittersRCV000132189 RCV000412238 RCV000468570 RCV000587521 RCV004804659 RCV005417971

NM_000059.4(BRCA2):c.5228G>A (p.Ser1743Asn)

SNV
Germline

Chr13:32339583

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
not specified
Hereditary breast ovarian cancer syndrome
Condition: not provided
BRCA2-related disorder
8 conditions

Criteria Provided
Conflicting Classifications

CA021793

rs_587782714

11 SubmittersRCV000132192 RCV000239058 RCV000505841 RCV000637755 RCV003477559 RCV004532578 RCV005008042

NM_000059.4(BRCA2):c.7685T>G (p.Phe2562Cys)

SNV
Germline

Chr13:32357809

Likely pathogenic

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 2
BRCA2-related disorder
BRCA2-related cancer predisposition

Reviewed By Expert Panel

CA025232

rs_587782715

8 SubmittersRCV000132194 RCV000692491 RCV000985592 RCV003474786 RCV003998136 RCV004528861 RCV006276072

NM_000059.4(BRCA2):c.3985A>G (p.Arg1329Gly)

SNV
Germline

Chr13:32338340

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA019330

rs_587782718

4 SubmittersRCV000132205 RCV001857467

NM_007294.4(BRCA1):c.3962C>A (p.Ser1321Tyr)

SNV
Germline

Chr17:43091569

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA002535

rs_386833394

4 SubmittersRCV000132206 RCV003529993

NM_000051.4(ATM):c.8122G>A (p.Asp2708Asn)

SNV
Germline

Chr11:108335080

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Ataxia-telangiectasia syndrome
Gastric cancer
Breast and/or ovarian cancer
Familial prostate cancer
Familial cancer of breast
Familial cancer of breast
Ataxia-telangiectasia syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA169419

rs_587782719

19 SubmittersRCV000132208 RCV000255899 RCV000559678 RCV003162592 RCV003149912 RCV003230416 RCV003467191 RCV006255329 RCV006605234

NM_000059.4(BRCA2):c.3772A>G (p.Ile1258Val)

SNV
Germline

Chr13:32338127

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
not specified
Breast-ovarian cancer, familial, susceptibility to, 2
BRCA2-related disorder

Criteria Provided
Conflicting Classifications

CA018772

rs_587782720

10 SubmittersRCV000132209 RCV000465587 RCV000657047 RCV003493460 RCV003998137 RCV004528862

NM_007294.4(BRCA1):c.2915G>A (p.Gly972Glu)

SNV
Germline

Chr17:43092616

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 1
Familial cancer of breast
Fanconi anemia, complementation group S

Criteria Provided
Conflicting Classifications

CA001902

rs_587782721

6 SubmittersRCV000132210 RCV000814762 RCV004772844 RCV005359294

NM_000059.4(BRCA2):c.3723T>G (p.Phe1241Leu)

SNV
Germline

Chr13:32338078

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Prostate cancer
Prostate neoplasm
Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2
BRCA2-related cancer predisposition
not specified

Criteria Provided
Conflicting Classifications

CA018663

rs_587782723

9 SubmittersRCV000132213 RCV000414919 RCV000471263 RCV000478604 RCV001196211 RCV004804660 RCV006452445

NM_000059.4(BRCA2):c.6886A>C (p.Ile2296Leu)

SNV
Germline

Chr13:32344602

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Fanconi anemia complementation group D1
Breast-ovarian cancer, familial, susceptibility to, 2
not specified
Condition: not provided
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA024540

rs_576279166

13 SubmittersRCV000132216 RCV000203848 RCV000353391 RCV000410842 RCV000479638 RCV001284584 RCV005365039

NM_000059.4(BRCA2):c.8303T>A (p.Leu2768His)

SNV
Germline

Chr13:32363505

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2
Familial cancer of breast
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA025559

rs_587782732

10 SubmittersRCV000132229 RCV000220276 RCV000539628 RCV000766316 RCV001353839 RCV003462040 RCV004804661

NM_000059.4(BRCA2):c.2389A>C (p.Lys797Gln)

SNV
Germline

Chr13:32336744

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome
BRCA2-related disorder
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA015097

rs_587782737

7 SubmittersRCV000132239 RCV000779981 RCV000806650 RCV003330508 RCV003998138

NM_000059.4(BRCA2):c.5048A>T (p.Gln1683Leu)

SNV
Germline

Chr13:32339403

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA021181

rs_587782738

6 SubmittersRCV000132240 RCV000231764 RCV001537260 RCV004589633

NM_000059.4(BRCA2):c.6106C>T (p.Pro2036Ser)

SNV
Germline

Chr13:32340461

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA023659

rs_587782740

5 SubmittersRCV000132243 RCV000506799 RCV001359318

NM_000059.4(BRCA2):c.5927G>T (p.Gly1976Val)

SNV
Germline

Chr13:32340282

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2
BRCA2-related disorder
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA023378

rs_587782751

10 SubmittersRCV000132261 RCV000203955 RCV000254817 RCV000586206 RCV000663212 RCV004532580 RCV004804662

NM_000059.4(BRCA2):c.9997C>G (p.Leu3333Val)

SNV
Germline

Chr13:32398510

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA026355

rs_567476314

7 SubmittersRCV000132264 RCV000232518 RCV000679200 RCV000662506

NM_000059.4(BRCA2):c.4631A>G (p.Asn1544Ser)

SNV
Germline

Chr13:32338986

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome
Condition: not provided
Fanconi anemia complementation group D1
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA020557

rs_587782753

7 SubmittersRCV000132267 RCV000779985 RCV001066722 RCV001284570 RCV005862992

NM_000059.4(BRCA2):c.4873G>A (p.Glu1625Lys)

SNV
Germline

Chr13:32339228

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary breast ovarian cancer syndrome
not specified
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA020938

rs_587782754

9 SubmittersRCV000132268 RCV000144218 RCV000215379 RCV000468942 RCV004800296 RCV005359295

NM_007294.4(BRCA1):c.5402G>A (p.Gly1801Asp)

SNV
Germline

Chr17:43049125

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Inherited ovarian cancer (without breast cancer)

Criteria Provided
Conflicting Classifications

CA003552

rs_531210457

10 SubmittersRCV000132269 RCV000160007 RCV000461010 RCV001073171 RCV001719903 RCV004584198

NM_000059.4(BRCA2):c.1265A>C (p.Asn422Thr)

SNV
Germline

Chr13:32332743

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA011390

rs_587782755

5 SubmittersRCV000132270 RCV001244124 RCV005600743

NM_007294.4(BRCA1):c.4389C>G (p.Tyr1463Ter)

SNV
Germline

Chr17:43076583

Pathogenic

Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Condition: not provided

Reviewed By Expert Panel

CA002814

rs_80356997

4 SubmittersRCV000132271 RCV000241288 RCV000793983 RCV002478403

NM_000546.6(TP53):c.1015G>A (p.Glu339Lys)

SNV
Germline

Chr17:7670694

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1
TP53-related disorder
Li-Fraumeni syndrome 1
Familial cancer of breast
Condition: not provided

Criteria Provided
Conflicting Classifications

CA000017

rs_17882252

13 SubmittersRCV000132285 RCV000254694 RCV001030734 RCV001081368 RCV001127282 RCV003891671 RCV005359297 RCV006259056

NM_000059.4(BRCA2):c.8225A>G (p.Asn2742Ser)

SNV
Germline

Chr13:32363427

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA025525

rs_587782763

4 SubmittersRCV000132287 RCV000460675 RCV000587124 RCV003998141

NM_000059.4(BRCA2):c.5341G>A (p.Asp1781Asn)

SNV
Germline

Chr13:32339696

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA022039

rs_183478654

10 SubmittersRCV000132288 RCV000409214 RCV000589648 RCV000637785

NM_007294.4(BRCA1):c.1243G>A (p.Val415Ile)

SNV
Germline

Chr17:43094288

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary breast ovarian cancer syndrome
not specified

Criteria Provided
Conflicting Classifications

CA000819

rs_587782770

13 SubmittersRCV000132298 RCV000238907 RCV000588638 RCV001081676 RCV001797635

NM_000059.4(BRCA2):c.8332-2A>G

SNV
Germline

Chr13:32370400

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Malignant tumor of breast
Condition: not provided
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA025585

rs_587782774

13 SubmittersRCV000132304 RCV000258406 RCV000503891 RCV001353698 RCV001528892 RCV003474788

NM_000059.4(BRCA2):c.6144T>G (p.Asn2048Lys)

SNV
Germline

Chr13:32340499

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Familial cancer of breast
Condition: not provided

Criteria Provided
Conflicting Classifications

CA023696

rs_587782775

6 SubmittersRCV000132308 RCV000233381 RCV003607245 RCV005625312

NM_007294.4(BRCA1):c.5492C>G (p.Pro1831Arg)

SNV
Germline

Chr17:43045778

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA003662

rs_587782778

11 SubmittersRCV000132312 RCV000508009 RCV000547690 RCV001076318 RCV001762322

NM_000059.4(BRCA2):c.9011A>G (p.Lys3004Arg)

SNV
Germline

Chr13:32379807

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Malignant tumor of breast
Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer

Criteria Provided
Conflicting Classifications

CA025924

rs_587782779

8 SubmittersRCV000132316 RCV000160162 RCV000530210 RCV000656810 RCV003492630

NM_007294.4(BRCA1):c.733G>T (p.Asp245Tyr)

SNV
Germline

Chr17:43094798

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 1
Breast-ovarian cancer, familial, susceptibility to, 1
Fanconi anemia, complementation group S
Pancreatic cancer, susceptibility to, 4

Criteria Provided
Conflicting Classifications

CA003840

rs_147519994

10 SubmittersRCV000132317 RCV000229852 RCV000780992 RCV002286705 RCV003998142 RCV005016457

NM_000059.4(BRCA2):c.8101T>C (p.Ser2701Pro)

SNV
Germline

Chr13:32363303

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA025455

rs_587782781

3 SubmittersRCV000132321 RCV000695361

NM_007294.4(BRCA1):c.1339G>A (p.Val447Ile)

SNV
Germline

Chr17:43094192

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA000874

rs_587782784

4 SubmittersRCV000132330 RCV000471324

NM_000059.4(BRCA2):c.8417C>T (p.Ser2806Leu)

SNV
Germline

Chr13:32370487

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary breast ovarian cancer syndrome
not specified
Breast and/or ovarian cancer
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA025633

rs_587782785

12 SubmittersRCV000132333 RCV000411091 RCV000679192 RCV001086081 RCV001192608 RCV001170974 RCV005359302

NM_007294.4(BRCA1):c.1078T>C (p.Cys360Arg)

SNV
Germline

Chr17:43094453

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA000720

rs_587782790

3 SubmittersRCV000132339 RCV002515921

NM_000059.4(BRCA2):c.428C>G (p.Pro143Arg)

SNV
Germline

Chr13:32326103

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
not specified
Breast-ovarian cancer, familial, susceptibility to, 2
Familial cancer of breast
BRCA2-related cancer predisposition
8 conditions

Criteria Provided
Conflicting Classifications

CA019922

rs_587782795

11 SubmittersRCV000132345 RCV000590737 RCV000637494 RCV001175343 RCV003315919 RCV004567154 RCV004804663 RCV005008043

NM_000059.4(BRCA2):c.2488A>G (p.Asn830Asp)

SNV
Germline

Chr13:32336843

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
Breast-ovarian cancer, familial, susceptibility to, 2
Malignant tumor of breast
Condition: not provided

Criteria Provided
Conflicting Classifications

CA015446

rs_574039421

14 SubmittersRCV000132391 RCV000168262 RCV000222546 RCV000662824 RCV001355560 RCV001719905

NM_058216.3(RAD51C):c.701C>G (p.Ser234Ter)

SNV
Germline

Chr17:58703325

Pathogenic

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group O
Breast-ovarian cancer, familial, susceptibility to, 3
Fanconi anemia complementation group O
Malignant tumor of breast
Breast-ovarian cancer, familial, susceptibility to, 3
Condition: not provided
Hereditary breast ovarian cancer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA169763

rs_587782818

9 SubmittersRCV000132392 RCV000458376 RCV000763015 RCV001358380 RCV003467194 RCV004696853 RCV006605235

NM_000059.4(BRCA2):c.4672A>C (p.Ser1558Arg)

SNV
Germline

Chr13:32339027

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
not specified

Criteria Provided
Conflicting Classifications

CA020625

rs_587782822

9 SubmittersRCV000132397 RCV000255433 RCV000411787 RCV000542360 RCV001818333

NM_000059.4(BRCA2):c.2920G>A (p.Asp974Asn)

SNV
Germline

Chr13:32337275

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
Condition: not provided
Malignant tumor of breast
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA016790

rs_539613324

11 SubmittersRCV000132411 RCV000167943 RCV000485759 RCV000657012 RCV001353846 RCV002250570 RCV003335127

NM_024675.4(PALB2):c.292A>G (p.Ile98Val)

SNV
Germline

Chr16:23636254

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA169811

rs_587782831

8 SubmittersRCV000132416 RCV000471839 RCV001753518 RCV002225448

NM_007294.4(BRCA1):c.1920A>T (p.Gln640His)

SNV
Germline

Chr17:43093611

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
not specified
Condition: not provided
Fanconi anemia, complementation group S

Criteria Provided
Conflicting Classifications

CA001263

rs_587782843

8 SubmittersRCV000132437 RCV000144221 RCV000816497 RCV001290528 RCV004998287 RCV005365040

NM_007194.4(CHEK2):c.592+3A>T

SNV
Germline

Chr22:28724974

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Familial cancer of breast
CHEK2-related cancer predisposition
Breast carcinoma
Hereditary breast ovarian cancer syndrome
Prostate cancer
CHEK2-related disorder
Malignant tumor of breast
Bone osteosarcoma
CHEK2-related cancer predisposition
Familial prostate cancer
CHEK2-related cancer predisposition

Criteria Provided
Multiple Submitters
No Conflicts

CA294532

rs_587782849

30 SubmittersRCV000132447 RCV000228472 RCV000656830 RCV001171462 RCV001554293 RCV002468934 RCV003334383 RCV004532583 RCV004551270 RCV004796033 RCV004760396

NM_000051.4(ATM):c.2887A>G (p.Met963Val)

SNV
Germline

Chr11:108271112

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided
not specified
Malignant tumor of breast
Breast and/or ovarian cancer
Hereditary breast ovarian cancer syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA169888

rs_374353016

13 SubmittersRCV000132462 RCV000168295 RCV000236226 RCV001201309 RCV001355859 RCV001798460 RCV002225449 RCV004821983

NM_000059.4(BRCA2):c.8611G>C (p.Glu2871Gln)

SNV
Germline

Chr13:32371079

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA025734

rs_587782860

2 SubmittersRCV000132479 RCV000761078

NM_007294.4(BRCA1):c.3289A>T (p.Ser1097Cys)

SNV
Germline

Chr17:43092242

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA002122

rs_587782864

3 SubmittersRCV000132485 RCV001065014

NM_000059.4(BRCA2):c.1849T>C (p.Ser617Pro)

SNV
Germline

Chr13:32333327

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA013554

rs_587782871

3 SubmittersRCV000132495 RCV000704969

NM_000059.4(BRCA2):c.5344C>G (p.Gln1782Glu)

SNV
Germline

Chr13:32339699

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA022069

rs_80358757

3 SubmittersRCV000132502 RCV001857470

NM_000059.4(BRCA2):c.6115T>A (p.Leu2039Ile)

SNV
Germline

Chr13:32340470

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA023669

rs_370026879

11 SubmittersRCV000132514 RCV000468278 RCV000663027 RCV001200386 RCV001260398

NM_000059.4(BRCA2):c.2258T>C (p.Phe753Ser)

SNV
Germline

Chr13:32336613

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA014783

rs_587782883

3 SubmittersRCV000132519 RCV001205559

NM_007294.4(BRCA1):c.5476C>A (p.Gln1826Lys)

SNV
Germline

Chr17:43045794

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA003639

rs_587782887

4 SubmittersRCV000132524 RCV001077976 RCV002298482

NM_032043.3(BRIP1):c.550G>T (p.Asp184Tyr)

SNV
Germline

Chr17:61847178

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group J
Familial cancer of breast
Condition: not provided
not specified
Fanconi anemia complementation group J
Malignant tumor of breast
Familial cancer of breast
BRIP1-related disorder
Hereditary breast ovarian cancer syndrome
Fanconi anemia complementation group J
Ovarian cancer
Familial ovarian cancer
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA294540

rs_201047375

23 SubmittersRCV000132540 RCV000168177 RCV000212302 RCV001192824 RCV001196849 RCV001358268 RCV003315923 RCV004732700 RCV005251079 RCV005430209 RCV005600746 RCV005623307

NM_024675.4(PALB2):c.2074C>T (p.Gln692Ter)

SNV
Germline

Chr16:23630080

Likely pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Hereditary breast ovarian cancer syndrome
PALB2-related cancer predisposition
Breast-ovarian cancer, familial, susceptibility to, 5

Reviewed By Expert Panel

CA294556

rs_587776415

9 SubmittersRCV000133477 RCV000562385 RCV001030275 RCV003155925 RCV005639037 RCV006249363

NM_024675.4(PALB2):c.451C>T (p.Gln151Ter)

SNV
Germline

Chr16:23636095

Pathogenic

Condition: not provided
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA294565

rs_587776407

9 SubmittersRCV000133491 RCV000456418 RCV000576041 RCV004586565

NM_000059.4(BRCA2):c.8490G>A (p.Trp2830Ter)

SNV
Germline/somatic

Chr13:32370958

Pathogenic

Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA025681

rs_587776351

6 SubmittersRCV000143787 RCV000257621 RCV000759671 RCV002512551 RCV004601115

NM_000059.4(BRCA2):c.1340C>T (p.Pro447Leu)

SNV
Germline

Chr13:32332818

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome
Condition: not provided
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA011674

rs_587776459

10 SubmittersRCV000144180 RCV000509642 RCV000502802 RCV000795705 RCV003328557 RCV005359307

NM_000059.4(BRCA2):c.1444C>T (p.Leu482Phe)

SNV
Germline

Chr13:32332922

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA012054

rs_587776460

4 SubmittersRCV000144181 RCV000817727 RCV003157410

NM_000059.4(BRCA2):c.3715A>G (p.Lys1239Glu)

SNV
Germline

Chr13:32338070

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
not specified
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
BRCA2-related disorder
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA018644

rs_374191973

13 SubmittersRCV000144184 RCV000160068 RCV000537690 RCV000575098 RCV001704061 RCV004532626 RCV004804665

NM_000059.4(BRCA2):c.4391C>T (p.Ser1464Phe)

SNV
Germline

Chr13:32338746

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA020084

rs_587776464

7 SubmittersRCV000144185 RCV000584025 RCV001849969

NM_000059.4(BRCA2):c.5270A>G (p.Tyr1757Cys)

SNV
Germline

Chr13:32339625

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
not specified
Hereditary cancer
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA021909

rs_587776466

11 SubmittersRCV000144187 RCV000164644 RCV000173972 RCV000232494 RCV001192505 RCV003492632 RCV004804666

NM_000059.4(BRCA2):c.6044T>A (p.Leu2015Ter)

SNV
Germline

Chr13:32340399

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Breast and/or ovarian cancer
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA023566

rs_587776468

5 SubmittersRCV000144189 RCV000222461 RCV001271043 RCV004586567

NM_000059.4(BRCA2):c.7493A>C (p.Lys2498Thr)

SNV
Germline

Chr13:32356485

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided

Criteria Provided
Conflicting Classifications

CA025117

rs_587776469

6 SubmittersRCV000144190 RCV000476388 RCV002390301 RCV004567161 RCV004998290

NM_000059.4(BRCA2):c.8068G>A (p.Val2690Ile)

SNV
Germline

Chr13:32363270

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
8 conditions

Criteria Provided
Conflicting Classifications

CA025437

rs_587776471

5 SubmittersRCV000144192 RCV000482878 RCV000554038 RCV000565764 RCV005008046

NM_000059.4(BRCA2):c.8262T>G (p.His2754Gln)

SNV
Germline

Chr13:32363464

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
Familial cancer of breast
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA025545

rs_587776472

11 SubmittersRCV000144193 RCV000483045 RCV000575580 RCV000637765 RCV001824645 RCV004567162 RCV004804667

NM_000059.4(BRCA2):c.9257G>C (p.Gly3086Ala)

SNV
Germline

Chr13:32394689

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Malignant tumor of breast
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Breast and/or ovarian cancer

Criteria Provided
Conflicting Classifications

CA026069

rs_574271678

13 SubmittersRCV000144196 RCV000236803 RCV000545556 RCV000580829 RCV000586031 RCV002465535 RCV003492633

NM_000059.4(BRCA2):c.9433G>A (p.Val3145Met)

SNV
Germline

Chr13:32394865

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
BRCA2-related disorder

Criteria Provided
Conflicting Classifications

CA026154

rs_587776476

8 SubmittersRCV000144197 RCV000217472 RCV000227102 RCV000486980 RCV004532627

NM_007294.4(BRCA1):c.1234G>A (p.Val412Ile)

SNV
Germline

Chr17:43094297

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA000812

rs_587776478

6 SubmittersRCV000144199 RCV000159951 RCV000165140 RCV001064185

NM_007294.4(BRCA1):c.1295T>C (p.Leu432Pro)

SNV
Germline

Chr17:43094236

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA000847

rs_369394098

5 SubmittersRCV000144200 RCV001295747 RCV002381451 RCV003225032

NM_007294.4(BRCA1):c.1975C>G (p.Pro659Ala)

SNV
Germline

Chr17:43093556

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA001319

rs_587776481

6 SubmittersRCV000144202 RCV000478903 RCV000528149 RCV000564764

NM_007294.4(BRCA1):c.2342A>C (p.Glu781Ala)

SNV
Germline

Chr17:43093189

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified
Breast-ovarian cancer, familial, susceptibility to, 1
Fanconi anemia, complementation group S
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA001564

rs_587776482

9 SubmittersRCV000144203 RCV000471903 RCV000509839 RCV000781014 RCV005359308

NM_007294.4(BRCA1):c.2456C>G (p.Ser819Cys)

SNV
Germline

Chr17:43093075

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Pilocytic astrocytoma

Criteria Provided
Conflicting Classifications

CA001637

rs_192655097

5 SubmittersRCV000144204 RCV000637627 RCV002444597 RCV006454657

NM_007294.4(BRCA1):c.2690C>T (p.Pro897Leu)

SNV
Germline

Chr17:43092841

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
BRCA1-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA001772

rs_587776484

7 SubmittersRCV000144205 RCV000567790 RCV001216620 RCV001193801 RCV004804668

NM_007294.4(BRCA1):c.2980T>A (p.Cys994Ser)

SNV
Germline

Chr17:43092551

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA001937

rs_144853230

4 SubmittersRCV000144207 RCV001237506 RCV002433627

NM_007294.4(BRCA1):c.3170G>A (p.Ser1057Asn)

SNV
Germline

Chr17:43092361

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA002068

rs_587776487

7 SubmittersRCV000144208 RCV000485904 RCV000563435 RCV000704884

NM_007294.4(BRCA1):c.3736A>G (p.Thr1246Ala)

SNV
Germline

Chr17:43091795

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified

Criteria Provided
Conflicting Classifications

CA002394

rs_587776488

6 SubmittersRCV000144209 RCV000581538 RCV003529994 RCV006273562

NM_007294.4(BRCA1):c.5401G>A (p.Gly1801Ser)

SNV
Germline

Chr17:43049126

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA003551

rs_587776492

4 SubmittersRCV000144213 RCV001041257 RCV004948194

NM_007294.4(BRCA1):c.144G>A (p.Met48Ile)

SNV
Germline

Chr17:43106524

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Malignant tumor of breast

Criteria Provided
Conflicting Classifications

CA000972

rs_587783040

6 SubmittersRCV000144580 RCV000637653 RCV000775192 RCV001354062

NM_000059.4(BRCA2):c.6257T>C (p.Ile2086Thr)

SNV
Germline

Chr13:32340612

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA023791

rs_587783042

5 SubmittersRCV000144582 RCV000704093 RCV003157413 RCV004998291

NM_000059.4(BRCA2):c.5035A>G (p.Thr1679Ala)

SNV
Germline

Chr13:32339390

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA021163

rs_80358728

5 SubmittersRCV000144584 RCV000509635 RCV000701101 RCV004804670

NM_000059.4(BRCA2):c.5982A>T (p.Gln1994His)

SNV
Germline

Chr13:32340337

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA023447

rs_587783043

4 SubmittersRCV000144585 RCV001849970 RCV003157415

NM_007294.4(BRCA1):c.4468G>T (p.Glu1490Ter)

SNV
Germline

Chr17:43076504

Pathogenic

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA002864

rs_138608489

5 SubmittersRCV000149887 RCV000241381 RCV000985416 RCV003362690

NM_007294.4(BRCA1):c.4358-2786G>A

SNV
Germline

Chr17:43079400

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA002798

rs_374435098

2 SubmittersRCV000149888 RCV003998181

NM_000465.4(BARD1):c.465A>G (p.Arg155=)

SNV
Germline

Chr2:214781409

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA298448

rs_730881413

9 SubmittersRCV000159807 RCV000199429 RCV000212115 RCV001543125

NM_000465.4(BARD1):c.448C>T (p.Arg150Ter)

SNV
Germline

Chr2:214781426

Pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Hereditary breast ovarian cancer syndrome
Malignant tumor of breast
Gastric cancer
BARD1-related cancer predisposition

Criteria Provided
Multiple Submitters
No Conflicts

CA298444

rs_730881411

14 SubmittersRCV000159805 RCV000213814 RCV000471276 RCV001030673 RCV001293502 RCV003162672 RCV005359344

NM_000179.3(MSH6):c.532C>T (p.Arg178Cys)

SNV
Germline

Chr2:47795968

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
not specified
Hereditary breast ovarian cancer syndrome
Endometrial carcinoma
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA015802

rs_730881813

14 SubmittersRCV000160711 RCV000217717 RCV000456306 RCV000986705 RCV000781604 RCV001030488 RCV003467255 RCV003998510

NM_000179.3(MSH6):c.728G>A (p.Arg243His)

SNV
Germline

Chr2:47798711

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Lynch syndrome
Endometrial carcinoma
not specified
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA016346

rs_370157832

12 SubmittersRCV000160655 RCV000459365 RCV000568587 RCV001030489 RCV001270441 RCV003462092 RCV003230421 RCV005420574

NM_000179.3(MSH6):c.1054G>A (p.Val352Ile)

SNV
Germline

Chr2:47799037

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Lynch syndrome 5
Hereditary nonpolyposis colorectal neoplasms
Hereditary nonpolyposis colon cancer
Hereditary breast ovarian cancer syndrome
Lynch syndrome
MSH6-related disorder

Criteria Provided
Conflicting Classifications

CA007915

rs_730881787

15 SubmittersRCV000160662 RCV000656893 RCV000780471 RCV000986713 RCV001082336 RCV003323296 RCV005089799 RCV005359374 RCV004739503

NM_000179.3(MSH6):c.1190A>G (p.Tyr397Cys)

SNV
Germline

Chr2:47799173

Conflicting classifications of pathogenicity

not specified
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Condition: not provided
Lynch syndrome 5
Lynch syndrome
Hereditary breast ovarian cancer syndrome
Lynch syndrome 5
Endometrial carcinoma
Mismatch repair cancer syndrome 3
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA008291

rs_63750065

18 SubmittersRCV000160665 RCV000206352 RCV000565934 RCV000656894 RCV000662428 RCV000708864 RCV001030492 RCV002484997 RCV004567216

NM_000249.4(MLH1):c.790C>G (p.His264Asp)

SNV
Germline

Chr3:37014544

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Hereditary nonpolyposis colorectal neoplasms
not specified
Colorectal cancer, hereditary nonpolyposis, type 2

Criteria Provided
Conflicting Classifications

CA012233

rs_63751597

10 SubmittersRCV000160528 RCV000573493 RCV001030627 RCV001089422 RCV001532966 RCV003467245

NM_002485.5(NBN):c.1343A>T (p.Gln448Leu)

SNV
Germline

Chr8:89955337

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency
Condition: not provided
not specified
Aplastic anemia
NBN-related disorder
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA239214

rs_146403088

13 SubmittersRCV000160787 RCV000200818 RCV000656928 RCV001264572 RCV003474834 RCV004745222 RCV005359380

NM_000051.4(ATM):c.2159G>A (p.Arg720His)

SNV
Germline

Chr11:108256249

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Ataxia-telangiectasia syndrome
Hereditary breast ovarian cancer syndrome
not specified
Breast and/or ovarian cancer
ATM-related disorder
Familial cancer of breast
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

CA298156

rs_55830714

16 SubmittersRCV000159689 RCV000211974 RCV000205354 RCV001030522 RCV001174912 RCV001798544 RCV004551371 RCV005042312

NM_000051.4(ATM):c.4724G>A (p.Arg1575His)

SNV
Germline

Chr11:108293425

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided
not specified
Familial cancer of breast
Hereditary breast ovarian cancer syndrome
Familial colorectal cancer type X

Criteria Provided
Conflicting Classifications

CA298254

rs_550552791

18 SubmittersRCV000159727 RCV000204984 RCV000587149 RCV001268973 RCV001250435 RCV004760405 RCV005359340

NM_000051.4(ATM):c.6154G>A (p.Glu2052Lys)

SNV
Germline

Chr11:108316069

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided
Familial cancer of breast
Malignant tumor of breast
Familial cancer of breast
Ataxia-telangiectasia syndrome
ATM-related disorder
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA298299

rs_202206540

24 SubmittersRCV000159743 RCV000167963 RCV000212039 RCV001251135 RCV001357434 RCV005049438 RCV004739499 RCV004760406

NM_000059.4(BRCA2):c.107C>T (p.Ser36Phe)

SNV
Germline

Chr13:32319116

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
not specified
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA010765

rs_730881554

8 SubmittersRCV000510014 RCV000590054 RCV001320859 RCV002265634 RCV003462078 RCV003998448

NM_000059.4(BRCA2):c.475+5G>T

SNV
Germline

Chr13:32326155

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA020775

rs_730881504

4 SubmittersRCV000590329 RCV002326917 RCV003644913

NM_000059.4(BRCA2):c.517G>C (p.Gly173Arg)

SNV
Germline

Chr13:32326499

Pathogenic/Likely pathogenic

Breast and/or ovarian cancer
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Condition: not provided
Malignant tumor of breast
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA021599

rs_397507768

13 SubmittersRCV000168537 RCV000222599 RCV000258488 RCV000257907 RCV000766596 RCV001353967 RCV003474823

NM_000059.4(BRCA2):c.680C>T (p.Ala227Val)

SNV
Germline

Chr13:32329491

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA024426

rs_149565664

8 SubmittersRCV000160026 RCV000459299 RCV002362849 RCV003387778 RCV003998436

NM_000059.4(BRCA2):c.848T>C (p.Ile283Thr)

SNV
Germline

Chr13:32332326

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA025680

rs_730881507

4 SubmittersRCV000160031 RCV001070424 RCV002444664

NM_000059.4(BRCA2):c.902A>G (p.Asp301Gly)

SNV
Germline

Chr13:32332380

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified

Criteria Provided
Conflicting Classifications

CA025936

rs_730881508

6 SubmittersRCV000160032 RCV000166054 RCV000545109 RCV002265633

NM_000059.4(BRCA2):c.1094C>T (p.Pro365Leu)

SNV
Germline

Chr13:32332572

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA010784

rs_730881578

8 SubmittersRCV000160181 RCV000459920 RCV000568907 RCV001174590 RCV004804697

NM_000059.4(BRCA2):c.1351A>G (p.Ser451Gly)

SNV
Germline

Chr13:32332829

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA011700

rs_730881510

4 SubmittersRCV000160037 RCV001011034 RCV001850257

NM_000059.4(BRCA2):c.1624A>G (p.Ile542Val)

SNV
Germline

Chr13:32333102

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
BRCA2-related cancer predisposition
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 2
not specified

Criteria Provided
Conflicting Classifications

CA012652

rs_730881511

9 SubmittersRCV000160039 RCV000214296 RCV000819175 RCV004804689 RCV005359352 RCV005888570

NM_000059.4(BRCA2):c.1694C>T (p.Ala565Val)

SNV
Germline

Chr13:32333172

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Breast-ovarian cancer, familial, susceptibility to, 2
BRCA2-related disorder

Criteria Provided
Conflicting Classifications

CA012916

rs_55821741

11 SubmittersRCV000199884 RCV000509822 RCV000586436 RCV001706064 RCV003998438 RCV004535034

NM_000059.4(BRCA2):c.2162C>G (p.Pro721Arg)

SNV
Germline

Chr13:32336517

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA014489

rs_730881512

4 SubmittersRCV000160043 RCV002426788 RCV003765006

NM_000059.4(BRCA2):c.2206G>A (p.Ala736Thr)

SNV
Germline

Chr13:32336561

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary breast ovarian cancer syndrome
not specified
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA014584

rs_730881513

5 SubmittersRCV000160044 RCV000551881 RCV000781075 RCV002426789

NM_000059.4(BRCA2):c.2446G>A (p.Glu816Lys)

SNV
Germline

Chr13:32336801

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified

Criteria Provided
Conflicting Classifications

CA015314

rs_730881514

6 SubmittersRCV000160048 RCV000637641 RCV001015572 RCV005237595

NM_000059.4(BRCA2):c.2714A>G (p.Asn905Ser)

SNV
Germline

Chr13:32337069

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
not specified

Criteria Provided
Conflicting Classifications

CA016153

rs_730881515

8 SubmittersRCV000160049 RCV000165181 RCV000411248 RCV000541305 RCV003317107

NM_000059.4(BRCA2):c.2810A>C (p.Gln937Pro)

SNV
Germline

Chr13:32337165

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
BRCA2-related cancer predisposition
8 conditions
not specified

Criteria Provided
Conflicting Classifications

CA016468

rs_730881516

10 SubmittersRCV000160050 RCV000466542 RCV000509647 RCV004804690 RCV005003507 RCV005406856

NM_000059.4(BRCA2):c.2843T>C (p.Val948Ala)

SNV
Germline

Chr13:32337198

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
not specified

Criteria Provided
Conflicting Classifications

CA016605

rs_730881517

6 SubmittersRCV000542950 RCV000570238 RCV000662673 RCV000781051

NM_000059.4(BRCA2):c.3005A>C (p.Asn1002Thr)

SNV
Germline

Chr13:32337360

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified
8 conditions

Criteria Provided
Conflicting Classifications

CA017026

rs_730881518

10 SubmittersRCV000160054 RCV000225786 RCV000219400 RCV003235077 RCV005008066

NM_000059.4(BRCA2):c.3154G>A (p.Ala1052Thr)

SNV
Germline

Chr13:32337509

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA017317

rs_730881520

6 SubmittersRCV000567319 RCV000589646 RCV002516426

NM_000059.4(BRCA2):c.3172A>T (p.Lys1058Ter)

SNV
Germline

Chr13:32337527

Pathogenic

Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA017460

rs_730881521

9 SubmittersRCV000160058 RCV000162052 RCV000467920 RCV002321671

NM_000059.4(BRCA2):c.3208G>A (p.Ala1070Thr)

SNV
Germline

Chr13:32337563

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA017548

rs_372433502

5 SubmittersRCV000160059 RCV000583270 RCV006612241

NM_000059.4(BRCA2):c.3208G>T (p.Ala1070Ser)

SNV
Germline

Chr13:32337563

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA017554

rs_372433502

7 SubmittersRCV000160060 RCV000166418 RCV000524688 RCV000781080 RCV003998440

NM_000059.4(BRCA2):c.3351A>G (p.Ile1117Met)

SNV
Germline

Chr13:32337706

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA017825

rs_730881522

5 SubmittersRCV000160062 RCV000165224 RCV000198631

NM_000059.4(BRCA2):c.3382A>G (p.Thr1128Ala)

SNV
Germline

Chr13:32337737

Conflicting classifications of pathogenicity

not specified
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA017896

rs_730881523

9 SubmittersRCV000160063 RCV000205030 RCV000215811 RCV000766610 RCV004804691

NM_000059.4(BRCA2):c.3676A>C (p.Lys1226Gln)

SNV
Germline

Chr13:32338031

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA018533

rs_730881525

6 SubmittersRCV000160067 RCV000781126 RCV001850258 RCV003157428 RCV004804692

NM_000059.4(BRCA2):c.3731T>C (p.Ile1244Thr)

SNV
Germline

Chr13:32338086

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA018674

rs_730881526

9 SubmittersRCV000165364 RCV000586904 RCV000824375 RCV003998442

NM_000059.4(BRCA2):c.3758C>T (p.Ala1253Val)

SNV
Germline

Chr13:32338113

Conflicting classifications of pathogenicity

Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA018726

rs_730881527

5 SubmittersRCV000160070 RCV000238817 RCV002298486 RCV003157429

NM_000059.4(BRCA2):c.3929C>T (p.Thr1310Ile)

SNV
Germline

Chr13:32338284

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA019205

rs_730881528

6 SubmittersRCV000160071 RCV000509663 RCV001223495 RCV003998443

NM_000059.4(BRCA2):c.4079A>G (p.Asp1360Gly)

SNV
Germline

Chr13:32338434

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA019477

rs_730881529

4 SubmittersRCV000160073 RCV002295284 RCV003157430

NM_000059.4(BRCA2):c.4195T>C (p.Cys1399Arg)

SNV
Germline

Chr13:32338550

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA019706

rs_730881530

4 SubmittersRCV000160074 RCV000561378 RCV001204737

NM_000059.4(BRCA2):c.4211C>T (p.Ser1404Leu)

SNV
Germline

Chr13:32338566

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Familial cancer of breast
not specified

Criteria Provided
Conflicting Classifications

CA019726

rs_41293489

9 SubmittersRCV000160075 RCV000637430 RCV001022066 RCV003493464 RCV006255331 RCV006273573

NM_000059.4(BRCA2):c.4279T>A (p.Phe1427Ile)

SNV
Germline

Chr13:32338634

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA019902

rs_730881531

5 SubmittersRCV000160076 RCV001346631 RCV002326918 RCV004589673

NM_000059.4(BRCA2):c.4549A>G (p.Lys1517Glu)

SNV
Germline

Chr13:32338904

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA020401

rs_730881532

6 SubmittersRCV000160078 RCV000541569 RCV000575191 RCV004804693

NM_000059.4(BRCA2):c.4781T>G (p.Met1594Arg)

SNV
Germline

Chr13:32339136

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA020830

rs_730881533

4 SubmittersRCV000160079 RCV001023038 RCV003644914

NM_000059.4(BRCA2):c.4862G>T (p.Cys1621Phe)

SNV
Germline

Chr13:32339217

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA020932

rs_730881534

7 SubmittersRCV000160080 RCV000572608 RCV001038597 RCV003998444

NM_000059.4(BRCA2):c.4981T>C (p.Tyr1661His)

SNV
Germline

Chr13:32339336

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA021101

rs_730881535

5 SubmittersRCV000160081 RCV000772753 RCV001850259

NM_000059.4(BRCA2):c.5117A>C (p.Asn1706Thr)

SNV
Germline

Chr13:32339472

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA021306

rs_730881536

11 SubmittersRCV000160082 RCV000568700 RCV000607894 RCV001058918

NM_000059.4(BRCA2):c.5329A>G (p.Lys1777Glu)

SNV
Germline

Chr13:32339684

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA022021

rs_730881537

3 SubmittersRCV000160086 RCV001309197 RCV003157432

NM_000059.4(BRCA2):c.5406A>C (p.Gln1802His)

SNV
Germline

Chr13:32339761

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
BRCA2-related disorder
BRCA2-related cancer predisposition
not specified

Criteria Provided
Conflicting Classifications

CA022262

rs_139302211

11 SubmittersRCV000165152 RCV000766624 RCV001308256 RCV004724946 RCV004804694 RCV005406857

NM_000059.4(BRCA2):c.5418A>C (p.Glu1806Asp)

SNV
Germline

Chr13:32339773

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA022284

rs_34351119

4 SubmittersRCV000160089 RCV000573439 RCV005089796

NM_000059.4(BRCA2):c.5644T>C (p.Ser1882Pro)

SNV
Germline

Chr13:32339999

Conflicting classifications of pathogenicity

Breast and/or ovarian cancer
Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA022814

rs_730881538

9 SubmittersRCV000257958 RCV000590236 RCV000806443 RCV000772756

NM_000059.4(BRCA2):c.5687C>A (p.Ala1896Glu)

SNV
Germline

Chr13:32340042

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA022984

rs_730881539

5 SubmittersRCV000160096 RCV000168355 RCV003157433

NM_000059.4(BRCA2):c.5741G>A (p.Ser1914Asn)

SNV
Germline

Chr13:32340096

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA023121

rs_80358801

3 SubmittersRCV000160098 RCV001051411 RCV003157434

NM_000059.4(BRCA2):c.5763T>G (p.Phe1921Leu)

SNV
Germline

Chr13:32340118

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA023179

rs_730881540

9 SubmittersRCV000160101 RCV000583693 RCV001429569 RCV003998446

NM_000059.4(BRCA2):c.6140A>G (p.Tyr2047Cys)

SNV
Germline

Chr13:32340495

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA023691

rs_730881542

5 SubmittersRCV000160109 RCV000509812 RCV001850260

NM_000059.4(BRCA2):c.6255A>T (p.Leu2085Phe)

SNV
Germline

Chr13:32340610

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
not specified

Criteria Provided
Conflicting Classifications

CA023790

rs_730881579

9 SubmittersRCV000160189 RCV001025049 RCV000817081 RCV003998459 RCV004586580

NM_000059.4(BRCA2):c.6500T>C (p.Leu2167Ser)

SNV
Germline

Chr13:32340855

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA024119

rs_730881543

4 SubmittersRCV000160112 RCV001850261 RCV002362850

NM_000059.4(BRCA2):c.6538T>G (p.Leu2180Val)

SNV
Germline

Chr13:32340893

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA024151

rs_730881544

5 SubmittersRCV000160113 RCV001025383 RCV001304815

NM_000059.4(BRCA2):c.6567C>A (p.Asn2189Lys)

SNV
Germline

Chr13:32340922

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA024175

rs_397507374

9 SubmittersRCV000160114 RCV000167273 RCV000239150 RCV000458192

NM_000059.4(BRCA2):c.6569T>C (p.Val2190Ala)

SNV
Germline

Chr13:32340924

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA024186

rs_730881545

4 SubmittersRCV000160115 RCV003157436 RCV003644915

NM_000059.4(BRCA2):c.6614T>G (p.Val2205Gly)

SNV
Germline

Chr13:32340969

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified

Criteria Provided
Conflicting Classifications

CA024214

rs_730881546

7 SubmittersRCV000160116 RCV000509910 RCV000637443 RCV001553668

NM_000059.4(BRCA2):c.6652G>C (p.Asp2218His)

SNV
Germline

Chr13:32341007

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA024261

rs_730881547

4 SubmittersRCV000160117 RCV000509725 RCV001210152

NM_000059.4(BRCA2):c.6685G>T (p.Glu2229Ter)

SNV
Germline

Chr13:32341040

Pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Familial cancer of breast

Reviewed By Expert Panel

CA024292

rs_730881548

5 SubmittersRCV000160118 RCV000216038 RCV000241410 RCV001383215 RCV004567200

NM_000059.4(BRCA2):c.6719T>A (p.Leu2240Gln)

SNV
Germline

Chr13:32341074

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA024326

rs_369452046

7 SubmittersRCV000160119 RCV000570938 RCV000706880 RCV005420571

NM_000059.4(BRCA2):c.6772G>A (p.Glu2258Lys)

SNV
Germline

Chr13:32341127

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Familial cancer of breast
not specified
Breast-ovarian cancer, familial, susceptibility to, 2
8 conditions

Criteria Provided
Conflicting Classifications

CA024402

rs_730881549

13 SubmittersRCV000585930 RCV000572828 RCV000809521 RCV002288677 RCV003493465 RCV003998447 RCV005008067

NM_000059.4(BRCA2):c.7402G>A (p.Val2468Ile)

SNV
Germline

Chr13:32355255

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified

Criteria Provided
Conflicting Classifications

CA025055

rs_730881553

5 SubmittersRCV000160129 RCV000217429 RCV000538908 RCV001199869

NM_000059.4(BRCA2):c.7807G>A (p.Ala2603Thr)

SNV
Germline

Chr13:32362524

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA025294

rs_730881560

3 SubmittersRCV000160143 RCV001366270 RCV002408717

NM_000059.4(BRCA2):c.7910C>T (p.Ala2637Val)

SNV
Germline

Chr13:32362627

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA025329

rs_730881561

4 SubmittersRCV000160145 RCV002415700 RCV002515112 RCV003462079

NM_000059.4(BRCA2):c.7992T>G (p.Ile2664Met)

SNV
Germline

Chr13:32363194

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
8 conditions
Hereditary breast ovarian cancer syndrome
Breast and/or ovarian cancer
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA025389

rs_80359800

12 SubmittersRCV000411343 RCV000566432 RCV000656803 RCV000765140 RCV000709332 RCV003149970 RCV004804695

NM_000059.4(BRCA2):c.8016A>G (p.Ile2672Met)

SNV
Germline

Chr13:32363218

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA025407

rs_730881562

3 SubmittersRCV000166822 RCV001308573 RCV003998449

NM_000059.4(BRCA2):c.8157T>G (p.Ile2719Met)

SNV
Germline

Chr13:32363359

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA025476

rs_730881563

4 SubmittersRCV000160149 RCV000213185 RCV003765007

NM_000059.4(BRCA2):c.8174G>A (p.Trp2725Ter)

SNV
Germline/somatic

Chr13:32363376

Pathogenic

Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Malignant tumor of urinary bladder

Reviewed By Expert Panel

CA025488

rs_730881581

10 SubmittersRCV000160191 RCV000241299 RCV000460183 RCV001190946 RCV003332129

NM_000059.4(BRCA2):c.8179G>T (p.Ala2727Ser)

SNV
Germline

Chr13:32363381

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA025492

rs_730881582

4 SubmittersRCV000160192 RCV000232095 RCV002426790 RCV003474825

NM_000059.4(BRCA2):c.8204C>G (p.Pro2735Arg)

SNV
Germline

Chr13:32363406

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA025509

rs_730881564

7 SubmittersRCV000160151 RCV001027277 RCV001042835 RCV001262272 RCV003998450

NM_000059.4(BRCA2):c.8569G>T (p.Ala2857Ser)

SNV
Germline

Chr13:32371037

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA025713

rs_730881565

4 SubmittersRCV000160153 RCV000216821 RCV002304201

NM_000059.4(BRCA2):c.8825C>A (p.Ala2942Asp)

SNV
Germline

Chr13:32379387

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA025839

rs_373227180

8 SubmittersRCV000160159 RCV000166381 RCV000693651 RCV000781101 RCV003462081 RCV003998452

NM_000059.4(BRCA2):c.8978C>G (p.Ser2993Ter)

SNV
Germline

Chr13:32379774

Pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA025911

rs_397508025

6 SubmittersRCV000160161 RCV000221983 RCV000241294 RCV001041171

NM_000059.4(BRCA2):c.9057A>G (p.Lys3019=)

SNV
Germline

Chr13:32379853

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA025946

rs_1799956

4 SubmittersRCV000160164 RCV000693870 RCV001018727

NM_000059.4(BRCA2):c.9161C>T (p.Pro3054Leu)

SNV
Germline

Chr13:32380050

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA026011

rs_80359172

7 SubmittersRCV000160165 RCV000573424 RCV000690429 RCV000766655 RCV004804696

NM_000059.4(BRCA2):c.9290G>A (p.Cys3097Tyr)

SNV
Germline

Chr13:32394722

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary breast ovarian cancer syndrome
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA026090

rs_730881570

6 SubmittersRCV000160167 RCV000206642 RCV002288678 RCV002372041 RCV003998454

NM_000059.4(BRCA2):c.9296A>G (p.Asn3099Ser)

SNV
Germline

Chr13:32394728

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA026095

rs_730881571

5 SubmittersRCV000160168 RCV000794362 RCV001525933

NM_000059.4(BRCA2):c.9632C>A (p.Thr3211Lys)

SNV
Germline

Chr13:32397028

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 2
not specified

Criteria Provided
Conflicting Classifications

CA026240

rs_730881583

7 SubmittersRCV000160193 RCV000163095 RCV000472534 RCV003462082 RCV003998460 RCV004700493

NM_000059.4(BRCA2):c.9648+1G>C

SNV
Germline

Chr13:32397045

Conflicting classifications of pathogenicity

Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA026248

rs_730881573

7 SubmittersRCV000160176 RCV000239346 RCV000817530 RCV002381526 RCV003474824

NM_000059.4(BRCA2):c.9753G>T (p.Lys3251Asn)

SNV
Germline

Chr13:32398266

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
BRCA2-related cancer predisposition
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA026291

rs_730881576

6 SubmittersRCV000160179 RCV001019703 RCV002516427 RCV004806112 RCV005420572

NM_000059.4(BRCA2):c.9914G>A (p.Gly3305Asp)

SNV
Germline

Chr13:32398427

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA026330

rs_730881577

5 SubmittersRCV000160180 RCV000773221 RCV003529997 RCV003998457

NM_000059.4(BRCA2):c.10250A>G (p.Tyr3417Cys)

SNV
Germline

Chr13:32398763

Conflicting classifications of pathogenicity

not specified
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary cancer

Criteria Provided
Conflicting Classifications

CA010562

rs_730881600

7 SubmittersRCV000160263 RCV000230091 RCV000771295 RCV003477575 RCV003492647

NM_024675.4(PALB2):c.3202-8G>T

SNV
Germline

Chr16:23608020

Conflicting classifications of pathogenicity

not specified
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
Breast and/or ovarian cancer
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA299680

rs_367979106

7 SubmittersRCV000160822 RCV000476584 RCV000580700 RCV001284321 RCV001798556 RCV005359382

NM_024675.4(PALB2):c.1724G>A (p.Trp575Ter)

SNV
Germline

Chr16:23630430

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Hereditary breast ovarian cancer syndrome
PALB2-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA299691

rs_730881876

11 SubmittersRCV000160827 RCV000771400 RCV001238865 RCV003155926 RCV004724950

NM_024675.4(PALB2):c.1492G>T (p.Asp498Tyr)

SNV
Germline

Chr16:23635054

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
not specified
Fanconi anemia complementation group N
Hereditary breast ovarian cancer syndrome
Condition: not provided
Malignant tumor of breast

Criteria Provided
Conflicting Classifications

CA185966

rs_75023630

14 SubmittersRCV000160870 RCV000197379 RCV000200991 RCV000368837 RCV001030650 RCV000858743 RCV001356483

NM_024675.4(PALB2):c.212-2A>G

SNV
Germline

Chr16:23636336

Conflicting classifications of pathogenicity

Condition: not provided
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group N
Pancreatic cancer, susceptibility to, 3
PALB2-related disorder
Hereditary breast ovarian cancer syndrome
Uterine carcinosarcoma

Criteria Provided
Conflicting Classifications

CA299700

rs_730881879

15 SubmittersRCV000160830 RCV000206312 RCV000213220 RCV002498799 RCV004739509 RCV004800300 RCV005888579

NM_004360.5(CDH1):c.2165-17C>T

SNV
Germline

Chr16:68828157

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Hereditary diffuse gastric adenocarcinoma
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA298955

rs_730881657

5 SubmittersRCV000160376 RCV000580460 RCV002053923 RCV005638453

NM_002878.4(RAD51D):c.904-11T>A

SNV
Germline

Chr17:35101047

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 4
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA299922

rs_374449943

8 SubmittersRCV000411677 RCV000579626 RCV001704150 RCV002267895 RCV005359387

NM_002878.4(RAD51D):c.864C>T (p.Gly288=)

SNV
Germline

Chr17:35101240

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Breast-ovarian cancer, familial, susceptibility to, 4
RAD51D-related disorder
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA299919

rs_138557828

14 SubmittersRCV000160942 RCV000212971 RCV001081814 RCV003891692 RCV005365053 RCV006439681

NM_002878.4(RAD51D):c.607G>A (p.Val203Met)

SNV
Germline

Chr17:35103514

Conflicting classifications of pathogenicity

Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 4
Hereditary cancer-predisposing syndrome
RAD51D-related disorder
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA299936

rs_730881947

10 SubmittersRCV000160949 RCV000545735 RCV000570494 RCV003422053 RCV003482135

NM_002878.4(RAD51D):c.355T>C (p.Cys119Arg)

SNV
Germline

Chr17:35107113

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 4
Condition: not provided
Hereditary breast ovarian cancer syndrome
not specified
Malignant tumor of breast
Breast and/or ovarian cancer
Familial ovarian cancer

Criteria Provided
Conflicting Classifications

CA299926

rs_201313861

14 SubmittersRCV000160945 RCV000227224 RCV000586341 RCV000709444 RCV001420703 RCV001354078 RCV001798559 RCV005600765

NM_007294.4(BRCA1):c.5555C>T (p.Thr1852Ile)

SNV
Germline

Chr17:43045715

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA003711

rs_730881502

7 SubmittersRCV000160015 RCV000509851 RCV001040100 RCV001078072

NM_007294.4(BRCA1):c.5528C>A (p.Ala1843Glu)

SNV
Germline

Chr17:43045742

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA003698

rs_730881447

4 SubmittersRCV000159854 RCV000466347 RCV001076357 RCV002345550

NM_007294.4(BRCA1):c.5512G>A (p.Val1838Met)

SNV
Germline

Chr17:43045758

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA003688

rs_730881501

5 SubmittersRCV000160014 RCV000689723 RCV001078020 RCV001181283

NM_007294.4(BRCA1):c.5501C>T (p.Thr1834Ile)

SNV
Germline

Chr17:43045769

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
not specified

Criteria Provided
Conflicting Classifications

CA003671

rs_730881500

10 SubmittersRCV000160012 RCV000218401 RCV000467034 RCV001078008 RCV001582636

NM_007294.4(BRCA1):c.5477A>T (p.Gln1826Leu)

SNV
Germline

Chr17:43045793

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA003640

rs_730881499

5 SubmittersRCV000160011 RCV001024157 RCV001077981 RCV002053917

NM_007294.4(BRCA1):c.5468-5T>G

SNV
Germline

Chr17:43045807

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA003627

rs_730881498

4 SubmittersRCV000697764 RCV001024149 RCV001077481

NM_007294.4(BRCA1):c.5186T>A (p.Leu1729Gln)

SNV
Germline

Chr17:43063340

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Fanconi anemia, complementation group S

Criteria Provided
Conflicting Classifications

CA003330

rs_730881496

9 SubmittersRCV000160000 RCV000165263 RCV000411989 RCV001223270 RCV005365048

NM_007294.4(BRCA1):c.4987-1G>A

SNV
Germline

Chr17:43067696

Pathogenic

Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 1
not specified
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA003130

rs_730881495

11 SubmittersRCV000159998 RCV000172806 RCV000508328 RCV000694301 RCV001178132

NM_007294.4(BRCA1):c.4339C>A (p.Gln1447Lys)

SNV
Germline

Chr17:43082422

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA002774

rs_80357067

7 SubmittersRCV000457370 RCV000570241 RCV000759540 RCV001193114 RCV003998435

NM_007294.4(BRCA1):c.4097-2A>C

SNV
Germline

Chr17:43091034

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA002626

rs_80358019

2 SubmittersRCV000159986 RCV006461678

NM_007294.4(BRCA1):c.4015G>A (p.Glu1339Lys)

SNV
Germline

Chr17:43091516

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA002567

rs_80357021

4 SubmittersRCV000159985 RCV001021665 RCV002515110

NM_007294.4(BRCA1):c.3995G>T (p.Gly1332Val)

SNV
Germline

Chr17:43091536

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA002559

rs_730881490

7 SubmittersRCV000580590 RCV000587173 RCV000796595 RCV001770121

NM_007294.4(BRCA1):c.3980A>G (p.Gln1327Arg)

SNV
Germline

Chr17:43091551

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
BRCA1-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA002552

rs_730881444

7 SubmittersRCV000509776 RCV000505770 RCV000637725 RCV000662402 RCV004804681

NM_007294.4(BRCA1):c.3830C>T (p.Ala1277Val)

SNV
Germline

Chr17:43091701

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
BRCA1-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA002468

rs_730881489

5 SubmittersRCV000159982 RCV003157426 RCV005055646 RCV004804687

NM_007294.4(BRCA1):c.3681A>T (p.Gln1227His)

SNV
Germline

Chr17:43091850

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA002354

rs_730881488

6 SubmittersRCV000159980 RCV000564237 RCV001850256 RCV003607248

NM_007294.4(BRCA1):c.3270A>T (p.Gln1090His)

SNV
Germline

Chr17:43092261

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA002114

rs_369925993

8 SubmittersRCV000239193 RCV000466655 RCV000572366 RCV000779882 RCV001800469

NM_007294.4(BRCA1):c.3097G>A (p.Glu1033Lys)

SNV
Germline

Chr17:43092434

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
BRCA1-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA002028

rs_273899698

6 SubmittersRCV000159975 RCV000569329 RCV000792972 RCV001250437 RCV004804686

NM_007294.4(BRCA1):c.2935C>A (p.Arg979Ser)

SNV
Germline

Chr17:43092596

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA001916

rs_80356970

7 SubmittersRCV000159848 RCV001191788 RCV002515107 RCV003998429 RCV004998309

NM_007294.4(BRCA1):c.2922A>C (p.Leu974Phe)

SNV
Germline

Chr17:43092609

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA001910

rs_730881487

4 SubmittersRCV000205367 RCV000409417 RCV002433714

NM_007294.4(BRCA1):c.2888C>T (p.Thr963Ile)

SNV
Germline

Chr17:43092643

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
BRCA1-related disorder
BRCA1-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA001884

rs_730881443

8 SubmittersRCV000159847 RCV000213875 RCV000637682 RCV004786435 RCV004758656 RCV004804680

NM_007294.4(BRCA1):c.2808T>G (p.Asp936Glu)

SNV
Germline

Chr17:43092723

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Familial cancer of breast
BRCA1-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA001841

rs_730881485

10 SubmittersRCV000471242 RCV000566633 RCV000590145 RCV003321522 RCV003607247 RCV004804685

NM_007294.4(BRCA1):c.2444T>C (p.Ile815Thr)

SNV
Germline

Chr17:43093087

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA001633

rs_730881484

3 SubmittersRCV000159970 RCV002515109 RCV003157424

NM_007294.4(BRCA1):c.2333G>A (p.Gly778Asp)

SNV
Germline

Chr17:43093198

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA001559

rs_730881483

5 SubmittersRCV000159969 RCV000775169 RCV000811887

NM_007294.4(BRCA1):c.2321G>A (p.Gly774Asp)

SNV
Germline

Chr17:43093210

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA001549

rs_730881482

4 SubmittersRCV000159968 RCV001850255 RCV003157423

NM_007294.4(BRCA1):c.2312T>C (p.Leu771Ser)

SNV
Germline

Chr17:43093219

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
Breast-ovarian cancer, familial, susceptibility to, 1
BRCA1-related disorder
Breast-ovarian cancer, familial, susceptibility to, 1
Fanconi anemia, complementation group S
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA001543

rs_730881481

11 SubmittersRCV000159967 RCV000163092 RCV001061346 RCV003479028 RCV003998432 RCV004758657 RCV005359351

NM_007294.4(BRCA1):c.2246A>T (p.Asp749Val)

SNV
Germline

Chr17:43093285

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified

Criteria Provided
Conflicting Classifications

CA001506

rs_730881479

7 SubmittersRCV000159965 RCV000206207 RCV000571520 RCV001255547

NM_007294.4(BRCA1):c.2090T>C (p.Phe697Ser)

SNV
Germline

Chr17:43093441

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA001387

rs_730881476

4 SubmittersRCV000204847 RCV000409383 RCV002415699

NM_007294.4(BRCA1):c.2039A>G (p.Lys680Arg)

SNV
Germline

Chr17:43093492

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA001355

rs_730881475

4 SubmittersRCV000159961 RCV003157420 RCV005089795

NM_007294.4(BRCA1):c.1922T>C (p.Ile641Thr)

SNV
Germline

Chr17:43093609

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
not specified
Inherited ovarian cancer (without breast cancer)

Criteria Provided
Conflicting Classifications

CA001269

rs_730881474

14 SubmittersRCV000166531 RCV000197816 RCV000211014 RCV000509265 RCV000780801 RCV004808597

NM_007294.4(BRCA1):c.1901C>T (p.Pro634Leu)

SNV
Germline

Chr17:43093630

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA001244

rs_80357121

3 SubmittersRCV000159959 RCV002516425 RCV003157419

NM_007294.4(BRCA1):c.1786C>T (p.Leu596Phe)

SNV
Germline

Chr17:43093745

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA001159

rs_80357371

6 SubmittersRCV000159958 RCV000775174 RCV001361299 RCV004019940

NM_007294.4(BRCA1):c.1714G>T (p.Glu572Ter)

SNV
Germline

Chr17:43093817

Pathogenic

Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA001124

rs_730881473

8 SubmittersRCV000159957 RCV000241469 RCV000218698 RCV000585678 RCV001389312

NM_007294.4(BRCA1):c.1651A>G (p.Ser551Gly)

SNV
Germline

Chr17:43093880

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA001092

rs_730881472

4 SubmittersRCV000159955 RCV003157418 RCV003644911

NM_007294.4(BRCA1):c.1618G>A (p.Glu540Lys)

SNV
Germline

Chr17:43093913

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome
BRCA1-related disorder

Criteria Provided
Conflicting Classifications

CA001077

rs_730881471

7 SubmittersRCV000159954 RCV000775176 RCV001251418 RCV003644910 RCV004730890

NM_007294.4(BRCA1):c.1616C>A (p.Thr539Lys)

SNV
Germline

Chr17:43093915

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA001074

rs_80357374

6 SubmittersRCV000159953 RCV000685499 RCV002399585 RCV003453262

NM_007294.4(BRCA1):c.1456T>A (p.Phe486Ile)

SNV
Germline

Chr17:43094075

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA000975

rs_55906931

6 SubmittersRCV000159869 RCV000166848 RCV000471872 RCV003998430

NM_007294.4(BRCA1):c.1313A>C (p.Glu438Ala)

SNV
Germline

Chr17:43094218

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA000858

rs_730881470

3 SubmittersRCV000159952 RCV001850254 RCV003157417

NM_007294.4(BRCA1):c.1259A>G (p.Asp420Gly)

SNV
Germline

Chr17:43094272

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Breast-ovarian cancer, familial, susceptibility to, 1
Pancreatic cancer, susceptibility to, 4
Familial cancer of breast
not specified
BRCA1-related cancer predisposition
Breast-ovarian cancer, familial, susceptibility to, 1
Fanconi anemia, complementation group S
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA000831

rs_730881442

13 SubmittersRCV000159846 RCV000204508 RCV000214615 RCV000409308 RCV000515362 RCV000779906 RCV004804679 RCV005359348

NM_007294.4(BRCA1):c.1232A>T (p.Asp411Val)

SNV
Germline

Chr17:43094299

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA000809

rs_730881469

6 SubmittersRCV000159950 RCV000568855 RCV001850253 RCV003607246

NM_007294.4(BRCA1):c.923G>C (p.Ser308Thr)

SNV
Germline

Chr17:43094608

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA003966

rs_561998108

8 SubmittersRCV000159947 RCV000166933 RCV000637409 RCV001818356 RCV004700492

NM_007294.4(BRCA1):c.869T>G (p.Leu290Ter)

SNV
Germline

Chr17:43094662

Pathogenic

Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA003944

rs_730881468

5 SubmittersRCV000159946 RCV000241503 RCV003529995 RCV005781931

NM_007294.4(BRCA1):c.788G>A (p.Gly263Asp)

SNV
Germline

Chr17:43094743

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
not specified

Criteria Provided
Conflicting Classifications

CA003870

rs_397509319

9 SubmittersRCV000159945 RCV000165328 RCV000409328 RCV000559360 RCV001582635

NM_007294.4(BRCA1):c.729T>G (p.Asn243Lys)

SNV
Germline

Chr17:43094802

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA003838

rs_730881467

6 SubmittersRCV000159944 RCV001178194 RCV001351535 RCV003998431

NM_007294.4(BRCA1):c.222A>C (p.Gln74His)

SNV
Germline

Chr17:43104947

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA001492

rs_730881465

5 SubmittersRCV000471434 RCV001014818 RCV001076027 RCV001800468

NM_007294.4(BRCA1):c.216C>G (p.Ser72Arg)

SNV
Germline

Chr17:43104953

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Pancreatic cancer, susceptibility to, 4
Fanconi anemia, complementation group S
not specified
Breast-ovarian cancer, familial, susceptibility to, 1
Fanconi anemia, complementation group S
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA001450

rs_80356967

9 SubmittersRCV000564950 RCV000590511 RCV001072676 RCV001371073 RCV005016478 RCV005237594 RCV005359350

NM_007294.4(BRCA1):c.172C>A (p.Pro58Thr)

SNV
Germline

Chr17:43106496

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
not specified

Criteria Provided
Conflicting Classifications

CA001135

rs_397508904

6 SubmittersRCV000159934 RCV000571136 RCV001036738 RCV001077106 RCV002267892

NM_007294.4(BRCA1):c.60A>C (p.Lys20Asn)

SNV
Germline

Chr17:43124037

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA003760

rs_202168814

10 SubmittersRCV000159933 RCV000215880 RCV000549303 RCV001077746

NM_058216.3(RAD51C):c.32A>G (p.Gln11Arg)

SNV
Germline

Chr17:58692675

Conflicting classifications of pathogenicity

Fanconi anemia complementation group O
Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA299901

rs_730881937

6 SubmittersRCV000233682 RCV000587134 RCV000709500 RCV001189359

NM_058216.3(RAD51C):c.404+2T>C

SNV
Germline

Chr17:58695191

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group O
Breast-ovarian cancer, familial, susceptibility to, 3
Fanconi anemia complementation group O
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 3
RAD51C-related cancer predisposition

Criteria Provided
Multiple Submitters
No Conflicts

CA299885

rs_730881931

10 SubmittersRCV000160923 RCV000221514 RCV000467500 RCV000763014 RCV002307418 RCV003467269 RCV006554476

NM_058216.3(RAD51C):c.730A>G (p.Ile244Val)

SNV
Germline

Chr17:58709883

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group O
Condition: not provided
not specified
Breast-ovarian cancer, familial, susceptibility to, 3
Fanconi anemia complementation group O
Breast-ovarian cancer, familial, susceptibility to, 3
Hereditary breast ovarian cancer syndrome
Familial ovarian cancer

Criteria Provided
Conflicting Classifications

CA299861

rs_199886026

15 SubmittersRCV000160915 RCV000206770 RCV000587417 RCV001818359 RCV002478490 RCV003315415 RCV003482134 RCV005600762

NM_058216.3(RAD51C):c.934C>T (p.Arg312Trp)

SNV
Germline

Chr17:58724069

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group O
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 3
Breast-ovarian cancer, familial, susceptibility to, 3
Fanconi anemia complementation group O

Criteria Provided
Conflicting Classifications

CA299887

rs_730881932

11 SubmittersRCV000160924 RCV000563267 RCV000807077 RCV000781796 RCV001310207 RCV005025250

NM_032043.3(BRIP1):c.1066C>T (p.Arg356Ter)

SNV
Germline

Chr17:61801327

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Fanconi anemia complementation group J
Hereditary breast ovarian cancer syndrome
Gastric cancer
Familial cancer of breast
Familial ovarian cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA298869

rs_730881633

11 SubmittersRCV000160335 RCV000212307 RCV000636104 RCV001030543 RCV003162675 RCV003335146 RCV005600753

NM_032043.3(BRIP1):c.93+15G>A

SNV
Germline

Chr17:61861432

Conflicting classifications of pathogenicity

not specified
Fanconi anemia complementation group J
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group J
Hereditary breast ovarian cancer syndrome
Fanconi anemia complementation group J
Ovarian cancer

Criteria Provided
Conflicting Classifications

CA298901

rs_113052745

6 SubmittersRCV000160347 RCV000395959 RCV000580716 RCV002053921 RCV002225462 RCV005430218

NM_000546.6(TP53):c.713G>A (p.Cys238Tyr)

SNV
Germline/somatic

Chr17:7674250

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Condition: not provided
Ovarian neoplasm
Gallbladder cancer
Li-Fraumeni syndrome 1
Adrenocortical carcinoma, hereditary
Neoplasm
Hereditary breast ovarian cancer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA000351

rs_730882005

13 SubmittersRCV000161034 RCV000167907 RCV000235220 RCV000785261 RCV001374444 RCV002288693 RCV003462109 RCV004668817 RCV004794368

NM_007194.4(CHEK2):c.1513T>A (p.Ser505Thr)

SNV
Germline

Chr22:28689164

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Hereditary breast ovarian cancer syndrome
not specified

Criteria Provided
Conflicting Classifications

CA299094

rs_587781960

8 SubmittersRCV000160441 RCV000212471 RCV000476991 RCV001030619 RCV001193688

NM_007194.4(CHEK2):c.793-1G>A

SNV
Germline

Chr22:28710060

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast
CHEK2-related cancer predisposition
Prostate cancer
Colorectal cancer
Familial cancer of breast
Bone osteosarcoma
Hereditary breast ovarian cancer syndrome
CHEK2-related cancer predisposition
Familial prostate cancer
Bone osteosarcoma
CHEK2-related cancer predisposition

Criteria Provided
Multiple Submitters
No Conflicts

CA299073

rs_730881687

19 SubmittersRCV000160429 RCV000214915 RCV000464029 RCV002498796 RCV005055649 RCV005394552 RCV006554475

NM_007194.4(CHEK2):c.409C>T (p.Arg137Ter)

SNV
Germline

Chr22:28725278

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Congenital heart defects, multiple types, 3
CHEK2-related cancer predisposition
Prostate cancer
Familial cancer of breast
Bone osteosarcoma
Hereditary breast ovarian cancer syndrome
Gastric cancer
CHEK2-related cancer predisposition

Criteria Provided
Multiple Submitters
No Conflicts

CA299110

rs_730881701

20 SubmittersRCV000160452 RCV000229303 RCV000254656 RCV001007871 RCV000763477 RCV001526967 RCV003162676 RCV005414471

NM_000059.4(BRCA2):c.1329G>T (p.Glu443Asp)

SNV
Germline

Chr13:32332807

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA011632

rs_73169186

5 SubmittersRCV000161925 RCV000509920 RCV004691776

NM_000059.4(BRCA2):c.7266T>A (p.Cys2422Ter)

SNV
Germline

Chr13:32355119

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA025006

rs_730882169

6 SubmittersRCV000162058 RCV000580352 RCV005089803

NM_007294.4(BRCA1):c.5057A>G (p.His1686Arg)

SNV
Germline

Chr17:43067625

Pathogenic/Likely pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Inherited ovarian cancer (without breast cancer)

Criteria Provided
Multiple Submitters
No Conflicts

CA003177

rs_730882166

10 SubmittersRCV000162048 RCV000468314 RCV000483050 RCV000509750 RCV005252781

NM_007294.4(BRCA1):c.4998C>A (p.Tyr1666Ter)

SNV
Germline

Chr17:43067684

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA003146

rs_730882165

5 SubmittersRCV000162047 RCV000214326 RCV001385886

NM_007294.4(BRCA1):c.3511A>T (p.Lys1171Ter)

SNV
Germline

Chr17:43092020

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
BRCA1-related disorder

Reviewed By Expert Panel

CA002255

rs_730882164

6 SubmittersRCV000162046 RCV000540560 RCV000571457 RCV004730891

NM_000465.4(BARD1):c.1904-5G>A

SNV
Germline

Chr2:214730513

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
not specified
Condition: not provided
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA192419

rs_376639978

9 SubmittersRCV000165063 RCV000635980 RCV001251377 RCV001711443 RCV005359496

NM_000465.4(BARD1):c.1153G>A (p.Asp385Asn)

SNV
Germline

Chr2:214780721

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
not specified
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA195222

rs_587782436

8 SubmittersRCV000166197 RCV000480359 RCV000475001 RCV001201307 RCV002225486

NM_000465.4(BARD1):c.842C>T (p.Pro281Leu)

SNV
Germline

Chr2:214781032

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Hereditary breast ovarian cancer syndrome
not specified
BARD1-related disorder
Hereditary cancer
BARD1-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA193386

rs_367890377

14 SubmittersRCV000165427 RCV000204860 RCV000236294 RCV002225483 RCV002509267 RCV004739525 RCV005235069 RCV005600781

NM_000465.4(BARD1):c.735A>G (p.Gln245=)

SNV
Germline

Chr2:214781139

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Familial cancer of breast
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA186822

rs_763378916

10 SubmittersRCV000162728 RCV000439334 RCV000553056 RCV005365060 RCV005641517

NM_000251.3(MSH2):c.80C>T (p.Pro27Leu)

SNV
Germline

Chr2:47403271

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Lynch syndrome 1
Hereditary breast ovarian cancer syndrome
not specified
Hereditary nonpolyposis colon cancer
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA022338

rs_750746034

13 SubmittersRCV000164692 RCV000228123 RCV000235224 RCV000412025 RCV001374485 RCV003226226 RCV003993847 RCV003995359

NM_005732.4(RAD50):c.1237C>T (p.Gln413Ter)

SNV
Germline

Chr5:132588872

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Nijmegen breakage syndrome-like disorder
Nijmegen breakage syndrome-like disorder
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA189053

rs_373428259

6 SubmittersRCV000163726 RCV001194191 RCV002498810 RCV003483532

NM_005732.4(RAD50):c.2209C>G (p.Gln737Glu)

SNV
Germline

Chr5:132603301

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Nijmegen breakage syndrome-like disorder
Hereditary breast ovarian cancer syndrome
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA198118

rs_549559726

6 SubmittersRCV000167368 RCV000764585 RCV001030506 RCV001194195 RCV004998359

NM_005732.4(RAD50):c.2603A>G (p.Asn868Ser)

SNV
Germline

Chr5:132604884

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Nijmegen breakage syndrome-like disorder

Criteria Provided
Conflicting Classifications

CA191656

rs_758941378

4 SubmittersRCV000164730 RCV001030509 RCV004567251

NM_000535.7(PMS2):c.*3G>A

SNV
Germline

Chr7:5973396

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Hereditary breast ovarian cancer syndrome
PMS2-related disorder
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA012074

rs_776493195

9 SubmittersRCV000165323 RCV000506179 RCV000589954 RCV004786465 RCV004742292 RCV005420659

NM_002485.5(NBN):c.1809C>A (p.Phe603Leu)

SNV
Germline

Chr8:89953280

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Microcephaly, normal intelligence and immunodeficiency
Hereditary breast ovarian cancer syndrome
Malignant tumor of breast
Hepatocellular carcinoma
Thyroid cancer, nonmedullary, 1

Criteria Provided
Conflicting Classifications

CA191232

rs_192236678

13 SubmittersRCV000164543 RCV000424535 RCV000589243 RCV001081367 RCV001030565 RCV001357000 RCV005889609 RCV005889610

NM_002485.5(NBN):c.415A>G (p.Thr139Ala)

SNV
Germline

Chr8:89980799

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency
Condition: not provided
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA193554

rs_543852763

7 SubmittersRCV000165497 RCV000168457 RCV001706081 RCV002225484

NM_000051.4(ATM):c.2074C>T (p.Arg692Cys)

SNV
Germline

Chr11:108253989

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided
not specified
Breast and/or ovarian cancer
Familial cancer of breast
Hereditary breast ovarian cancer syndrome
ATM-related disorder

Criteria Provided
Conflicting Classifications

CA189945

rs_765965513

12 SubmittersRCV000164063 RCV000168071 RCV000219263 RCV000780902 RCV003150012 RCV003316015 RCV003483533 RCV004739514

NM_000051.4(ATM):c.2606C>G (p.Ala869Gly)

SNV
Germline

Chr11:108267310

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
not specified
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA190672

rs_145513717

13 SubmittersRCV000164332 RCV000476653 RCV000479991 RCV002225480 RCV002465546 RCV003467290

NM_000051.4(ATM):c.2804C>G (p.Thr935Arg)

SNV
Germline

Chr11:108268575

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Hereditary breast ovarian cancer syndrome
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA190962

rs_3218708

9 SubmittersRCV000164443 RCV000557491 RCV001030525 RCV000779788 RCV003238729

NM_000051.4(ATM):c.3806A>G (p.Lys1269Arg)

SNV
Germline

Chr11:108284286

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided
Familial cancer of breast
Ataxia-telangiectasia syndrome
Breast and/or ovarian cancer
Familial cancer of breast
ATM-related disorder
Hereditary breast ovarian cancer syndrome
not specified

Criteria Provided
Conflicting Classifications

CA193557

rs_146017595

19 SubmittersRCV000165498 RCV000206887 RCV000590439 RCV000763700 RCV001798592 RCV003462176 RCV004552911 RCV004764775 RCV004700508

NM_000051.4(ATM):c.4365T>A (p.Ser1455Arg)

SNV
Germline

Chr11:108289730

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Hereditary breast ovarian cancer syndrome
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA193670

rs_527471560

7 SubmittersRCV000165552 RCV000232578 RCV001030530 RCV000780910 RCV001589033

NM_000051.4(ATM):c.5938G>A (p.Gly1980Arg)

SNV
Germline

Chr11:108312430

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA197747

rs_786203765

4 SubmittersRCV000167212 RCV000459904 RCV001249858

NM_000051.4(ATM):c.6145T>G (p.Tyr2049Asp)

SNV
Germline

Chr11:108316060

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA197753

rs_786203767

9 SubmittersRCV000167214 RCV000628069 RCV000523725 RCV003483552 RCV004567335

NM_000051.4(ATM):c.6537T>G (p.Ile2179Met)

SNV
Germline

Chr11:108321385

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided
Familial cancer of breast
Ataxia-telangiectasia syndrome
Hereditary breast ovarian cancer syndrome
not specified
Familial cancer of breast
ATM-related disorder

Criteria Provided
Conflicting Classifications

CA194187

rs_146243469

16 SubmittersRCV000165775 RCV000205267 RCV000590569 RCV000764937 RCV002225485 RCV003387784 RCV003474869 RCV004739529

NM_000051.4(ATM):c.7316T>C (p.Val2439Ala)

SNV
Germline

Chr11:108330222

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided
not specified
Familial cancer of breast
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA191724

rs_776266049

10 SubmittersRCV000164769 RCV000543915 RCV000590493 RCV001328041 RCV003468722 RCV005251087

NM_000051.4(ATM):c.7463G>A (p.Cys2488Tyr)

SNV
Germline

Chr11:108330369

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Ataxia-telangiectasia syndrome
Hereditary cancer
Ataxia-telangiectasia syndrome
not specified
Familial cancer of breast
Ataxia-telangiectasia syndrome
Malignant tumor of breast
Hereditary breast ovarian cancer syndrome
Familial colorectal cancer type X
Familial cancer of breast
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

CA196568

rs_774281788

16 SubmittersRCV000166722 RCV000255700 RCV000509266 RCV000541770 RCV001175362 RCV002247573 RCV001535786 RCV004689641 RCV005361023 RCV005049446

NM_000051.4(ATM):c.8977C>T (p.Arg2993Ter)

SNV
Germline/somatic

Chr11:108365208

Pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Familial cancer of breast
Ataxia-telangiectasia syndrome
Breast cancer, susceptibility to
Familial cancer of breast
Koolen-de Vries syndrome
Neoplasm
ATM-related cancer predisposition

Criteria Provided
Multiple Submitters
No Conflicts

CA194505

rs_770641163

22 SubmittersRCV000165909 RCV000169469 RCV000414034 RCV000416708 RCV000515430 RCV001265579 RCV003462193 RCV004767107 RCV006273604 RCV006554482

NM_000059.4(BRCA2):c.11G>C (p.Gly4Ala)

SNV
Germline

Chr13:32316471

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
Breast-ovarian cancer, familial, susceptibility to, 2
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA011150

rs_587782137

8 SubmittersRCV000167014 RCV000637700 RCV001280619 RCV001356441 RCV002250581

NM_000059.4(BRCA2):c.28A>G (p.Thr10Ala)

SNV
Germline

Chr13:32316488

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
not specified
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA016728

rs_786203080

10 SubmittersRCV000166222 RCV000470603 RCV000586386 RCV001171391 RCV003474874 RCV003995490

NM_000059.4(BRCA2):c.52C>T (p.Arg18Cys)

SNV
Germline

Chr13:32316512

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA021988

rs_786201560

6 SubmittersRCV000163880 RCV000485328 RCV000542286 RCV000662989 RCV004804723

NM_000059.4(BRCA2):c.68-3T>G

SNV
Germline

Chr13:32319074

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Malignant tumor of breast
Condition: not provided
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 2
not specified

Criteria Provided
Conflicting Classifications

CA024484

rs_786201770

10 SubmittersRCV000164231 RCV000547977 RCV001355586 RCV001566570 RCV003474853 RCV003995328 RCV004562347

NM_000059.4(BRCA2):c.68-2A>G

SNV
Germline

Chr13:32319075

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
not specified

Criteria Provided
Conflicting Classifications

CA024472

rs_769152395

6 SubmittersRCV000167275 RCV000702378 RCV000988980 RCV005237627

NM_000059.4(BRCA2):c.397C>A (p.Pro133Thr)

SNV
Germline

Chr13:32325156

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA019322

rs_571823764

5 SubmittersRCV000164580 RCV001299038 RCV001723734 RCV003321530 RCV003607249

NM_000059.4(BRCA2):c.632-3C>A

SNV
Germline

Chr13:32329440

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
Condition: not provided
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA023901

rs_568027879

6 SubmittersRCV000165268 RCV000464025 RCV000507464 RCV000766296 RCV004804745

NM_000059.4(BRCA2):c.799G>T (p.Gly267Ter)

SNV
Germline

Chr13:32332277

Pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
BRCA2-related disorder

Reviewed By Expert Panel

CA025393

rs_786202796

6 SubmittersRCV000165786 RCV000220294 RCV000241277 RCV000781052 RCV004528914

NM_000059.4(BRCA2):c.1037A>T (p.Asn346Ile)

SNV
Germline

Chr13:32332515

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA010614

rs_786202042

3 SubmittersRCV000164652 RCV001208262

NM_000059.4(BRCA2):c.1040A>C (p.Gln347Pro)

SNV
Germline

Chr13:32332518

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA010632

rs_55800493

4 SubmittersRCV000167323 RCV000758856 RCV001201830

NM_000059.4(BRCA2):c.1054T>C (p.Tyr352His)

SNV
Germline

Chr13:32332532

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA010685

rs_542343726

10 SubmittersRCV000167496 RCV000470929 RCV000485522 RCV001697202 RCV003995595

NM_000059.4(BRCA2):c.1131G>C (p.Glu377Asp)

SNV
Germline

Chr13:32332609

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
not specified
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA010906

rs_777845659

8 SubmittersRCV000166252 RCV000560741 RCV000758859 RCV001420815 RCV004804760

NM_000059.4(BRCA2):c.1246A>G (p.Ile416Val)

SNV
Germline

Chr13:32332724

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2
not specified

Criteria Provided
Conflicting Classifications

CA011314

rs_786203710

7 SubmittersRCV000167130 RCV000637526 RCV001775653 RCV003995563 RCV005889633

NM_000059.4(BRCA2):c.1259A>G (p.Asp420Gly)

SNV
Germline

Chr13:32332737

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
8 conditions
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA011352

rs_786201654

9 SubmittersRCV000164047 RCV000525169 RCV000662878 RCV001284074 RCV005008073 RCV005359458

NM_000059.4(BRCA2):c.1273G>A (p.Glu425Lys)

SNV
Germline

Chr13:32332751

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA011416

rs_786203512

5 SubmittersRCV000166847 RCV000705017 RCV006633900

NM_000059.4(BRCA2):c.1282C>A (p.Leu428Ile)

SNV
Germline

Chr13:32332760

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome
8 conditions
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA011452

rs_547590567

7 SubmittersRCV000167165 RCV000508325 RCV000816899 RCV000765131 RCV001565649 RCV003234772

NM_000059.4(BRCA2):c.1334C>A (p.Ser445Tyr)

SNV
Germline

Chr13:32332812

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA011647

rs_786202373

4 SubmittersRCV000165146 RCV001063054

NM_000059.4(BRCA2):c.1397A>G (p.Asn466Ser)

SNV
Germline

Chr13:32332875

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA011894

rs_370692951

6 SubmittersRCV000165400 RCV001057061 RCV000985464 RCV001354133

NM_000059.4(BRCA2):c.1403G>A (p.Arg468Lys)

SNV
Germline

Chr13:32332881

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA011924

rs_786202940

3 SubmittersRCV000166015 RCV000637522

NM_000059.4(BRCA2):c.1478C>T (p.Pro493Leu)

SNV
Germline

Chr13:32332956

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
not specified
Condition: not provided
Malignant tumor of breast

Criteria Provided
Conflicting Classifications

CA012176

rs_786202916

10 SubmittersRCV000165981 RCV000239257 RCV000534241 RCV000486205 RCV000587856 RCV001353888

NM_000059.4(BRCA2):c.1481T>C (p.Val494Ala)

SNV
Germline

Chr13:32332959

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA012185

rs_786202205

5 SubmittersRCV000164909 RCV002460941 RCV003644922

NM_000059.4(BRCA2):c.1510T>C (p.Ser504Pro)

SNV
Germline

Chr13:32332988

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA012264

rs_786203006

3 SubmittersRCV000166120 RCV002516495

NM_000059.4(BRCA2):c.1543A>G (p.Thr515Ala)

SNV
Germline

Chr13:32333021

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA012345

rs_749469486

5 SubmittersRCV000166164 RCV000548268 RCV002254912 RCV003995484

NM_000059.4(BRCA2):c.1544C>T (p.Thr515Ile)

SNV
Germline

Chr13:32333022

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA012351

rs_786202142

6 SubmittersRCV000164808 RCV000419181 RCV003644920 RCV003995366

NM_000059.4(BRCA2):c.1598C>T (p.Thr533Ile)

SNV
Germline

Chr13:32333076

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
not specified
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA012581

rs_781763239

11 SubmittersRCV000166855 RCV000586858 RCV000662361 RCV000804094 RCV001818394 RCV004804768

NM_000059.4(BRCA2):c.1627C>T (p.His543Tyr)

SNV
Germline

Chr13:32333105

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA012679

rs_80358446

6 SubmittersRCV000166042 RCV000485437 RCV001193751 RCV001347556

NM_000059.4(BRCA2):c.1646A>G (p.Lys549Arg)

SNV
Germline

Chr13:32333124

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA012761

rs_786203702

3 SubmittersRCV000167122 RCV001300305

NM_000059.4(BRCA2):c.1669T>A (p.Leu557Ile)

SNV
Germline

Chr13:32333147

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA012849

rs_786202150

4 SubmittersRCV000164819 RCV002516467

NM_000059.4(BRCA2):c.1760C>G (p.Thr587Arg)

SNV
Germline

Chr13:32333238

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA013115

rs_786203316

3 SubmittersRCV000166573 RCV000553477

NM_000059.4(BRCA2):c.1771A>G (p.Ile591Val)

SNV
Germline

Chr13:32333249

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA013165

rs_786203548

6 SubmittersRCV000166907 RCV000688840 RCV001550389 RCV003995544

NM_000059.4(BRCA2):c.1824C>G (p.Asp608Glu)

SNV
Germline

Chr13:32333302

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA013472

rs_786202186

5 SubmittersRCV000164885 RCV001069188 RCV002254911

NM_000059.4(BRCA2):c.1880C>G (p.Ala627Gly)

SNV
Germline

Chr13:32333358

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA013695

rs_587782055

3 SubmittersRCV000166337 RCV001296312

NM_000059.4(BRCA2):c.1908A>G (p.Ser636=)

SNV
Germline

Chr13:32333386

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA013798

rs_786201892

2 SubmittersRCV000164410 RCV000797794

NM_000059.4(BRCA2):c.1922C>T (p.Ser641Phe)

SNV
Germline

Chr13:32336277

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA013934

rs_786202360

5 SubmittersRCV000165127 RCV001320851 RCV003231349 RCV003995395

NM_000059.4(BRCA2):c.1988T>C (p.Phe663Ser)

SNV
Germline

Chr13:32336343

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA014072

rs_552526845

6 SubmittersRCV000165107 RCV000637410 RCV004998330 RCV004804740

NM_000059.4(BRCA2):c.2035A>T (p.Asn679Tyr)

SNV
Germline

Chr13:32336390

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
BRCA2-related disorder
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA014176

rs_786202617

5 SubmittersRCV000165512 RCV000806648 RCV004732728 RCV005420661

NM_000059.4(BRCA2):c.2224C>A (p.Gln742Lys)

SNV
Germline

Chr13:32336579

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA014659

rs_80358494

10 SubmittersRCV000164550 RCV000531299 RCV000590224 RCV003995347

NM_000059.4(BRCA2):c.2231C>T (p.Ser744Leu)

SNV
Germline

Chr13:32336586

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
8 conditions
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA014700

rs_397507282

7 SubmittersRCV000166823 RCV000546053 RCV001582657 RCV002492673 RCV005361026

NM_000059.4(BRCA2):c.2248G>C (p.Asp750His)

SNV
Germline

Chr13:32336603

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA014741

rs_773125650

6 SubmittersRCV000166180 RCV000239212 RCV001294823

NM_000059.4(BRCA2):c.2330A>G (p.Asp777Gly)

SNV
Germline

Chr13:32336685

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
not specified
Malignant tumor of breast
Condition: not provided

Criteria Provided
Conflicting Classifications

CA014974

rs_780489283

9 SubmittersRCV000164609 RCV000196448 RCV000409339 RCV000481454 RCV001353765 RCV001721063

NM_000059.4(BRCA2):c.2348T>G (p.Val783Gly)

SNV
Germline

Chr13:32336703

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
not specified
Condition: not provided
Breast and/or ovarian cancer
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA015013

rs_768143929

13 SubmittersRCV000167274 RCV000238666 RCV000559193 RCV001174861 RCV001283917 RCV003150029 RCV005361034

NM_000059.4(BRCA2):c.2380A>G (p.Met794Val)

SNV
Germline

Chr13:32336735

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome
BRCA2-related cancer predisposition
Condition: not provided

Criteria Provided
Conflicting Classifications

CA015089

rs_786203635

7 SubmittersRCV000167035 RCV000505884 RCV000688301 RCV004804771 RCV006259135

NM_000059.4(BRCA2):c.2443A>G (p.Met815Val)

SNV
Germline

Chr13:32336798

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA015297

rs_786203814

9 SubmittersRCV000167284 RCV000410955 RCV000456518 RCV001582658 RCV001823121

NM_000059.4(BRCA2):c.2489A>G (p.Asn830Ser)

SNV
Germline

Chr13:32336844

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA015453

rs_786202809

3 SubmittersRCV000165820 RCV005089815

NM_000059.4(BRCA2):c.2578A>G (p.Ile860Val)

SNV
Germline

Chr13:32336933

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Hereditary cancer

Criteria Provided
Conflicting Classifications

CA015675

rs_786202072

5 SubmittersRCV000164704 RCV001045248 RCV005600775

NM_000059.4(BRCA2):c.2612C>G (p.Ser871Ter)

SNV
Germline

Chr13:32336967

Pathogenic

Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary breast ovarian cancer syndrome
BRCA2-related cancer predisposition

Reviewed By Expert Panel

CA015833

rs_397507634

5 SubmittersRCV000167495 RCV000241282 RCV000255430 RCV001060547 RCV005361042

NM_000059.4(BRCA2):c.2629C>T (p.Pro877Ser)

SNV
Germline

Chr13:32336984

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA015901

rs_80358524

3 SubmittersRCV000167199 RCV002298497

NM_000059.4(BRCA2):c.2679A>G (p.Gln893=)

SNV
Germline

Chr13:32337034

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA016024

rs_786203640

6 SubmittersRCV000167041 RCV000506813 RCV001062992 RCV002478517 RCV003995550

NM_000059.4(BRCA2):c.2683G>A (p.Ala895Thr)

SNV
Germline

Chr13:32337038

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA016049

rs_786203045

8 SubmittersRCV000166179 RCV000239250 RCV000548524 RCV001175564 RCV001800497

NM_000059.4(BRCA2):c.2683G>T (p.Ala895Ser)

SNV
Germline

Chr13:32337038

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA016058

rs_786203045

5 SubmittersRCV000166570 RCV001224927 RCV001775652

NM_000059.4(BRCA2):c.2704G>C (p.Ala902Pro)

SNV
Germline

Chr13:32337059

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA016149

rs_768648043

5 SubmittersRCV000166055 RCV000802958 RCV003995474

NM_000059.4(BRCA2):c.2723A>C (p.Glu908Ala)

SNV
Germline

Chr13:32337078

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA016168

rs_786202254

5 SubmittersRCV000164972 RCV000792719 RCV004998327

NM_000059.4(BRCA2):c.2744C>G (p.Thr915Ser)

SNV
Germline

Chr13:32337099

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA016236

rs_786202795

3 SubmittersRCV000165784 RCV000476860

NM_000059.4(BRCA2):c.2779A>G (p.Met927Val)

SNV
Germline

Chr13:32337134

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA016339

rs_786201837

12 SubmittersRCV000164328 RCV000426572 RCV000525226 RCV000588268 RCV000663056 RCV001262846

NM_000059.4(BRCA2):c.2807A>G (p.Lys936Arg)

SNV
Germline

Chr13:32337162

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA016431

rs_786201753

3 SubmittersRCV000164206 RCV000706256

NM_000059.4(BRCA2):c.2881C>G (p.Gln961Glu)

SNV
Germline

Chr13:32337236

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA016663

rs_80358538

7 SubmittersRCV000164804 RCV000985489 RCV001192685 RCV001370609

NM_000059.4(BRCA2):c.2900T>C (p.Leu967Pro)

SNV
Germline

Chr13:32337255

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
not specified

Criteria Provided
Conflicting Classifications

CA016735

rs_786202161

6 SubmittersRCV000164842 RCV000637332 RCV003995369 RCV006263702

NM_000059.4(BRCA2):c.3068A>G (p.Asn1023Ser)

SNV
Germline

Chr13:32337423

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA017138

rs_776196396

6 SubmittersRCV000165158 RCV000637766 RCV001775643 RCV003995396

NM_000059.4(BRCA2):c.3199A>G (p.Thr1067Ala)

SNV
Germline

Chr13:32337554

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA017521

rs_786203711

3 SubmittersRCV000167131 RCV000699510

NM_000059.4(BRCA2):c.3383C>T (p.Thr1128Ile)

SNV
Germline

Chr13:32337738

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA017902

rs_786202970

4 SubmittersRCV000166058 RCV004998343 RCV005089818

NM_000059.4(BRCA2):c.3397C>T (p.Pro1133Ser)

SNV
Germline

Chr13:32337752

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA017933

rs_786202430

6 SubmittersRCV000165239 RCV000227293 RCV001762376 RCV003137693

NM_000059.4(BRCA2):c.3497T>A (p.Val1166Asp)

SNV
Germline

Chr13:32337852

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group D1
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Malignant tumor of breast
Inherited breast cancer and ovarian cancer

Criteria Provided
Conflicting Classifications

CA018181

rs_762886975

7 SubmittersRCV000166339 RCV000309640 RCV000366646 RCV001094081 RCV001356826 RCV004692777

NM_000059.4(BRCA2):c.3532A>G (p.Ser1178Gly)

SNV
Germline

Chr13:32337887

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA018276

rs_41293481

3 SubmittersRCV000164836 RCV001223685

NM_000059.4(BRCA2):c.3553A>G (p.Thr1185Ala)

SNV
Germline

Chr13:32337908

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
BRCA2-related disorder

Criteria Provided
Conflicting Classifications

CA018312

rs_786202485

5 SubmittersRCV000165322 RCV000686649 RCV003995411 RCV004535110

NM_000059.4(BRCA2):c.3667C>T (p.His1223Tyr)

SNV
Germline

Chr13:32338022

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
not specified
Condition: not provided
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA018502

rs_786203756

8 SubmittersRCV000167201 RCV000412156 RCV000535786 RCV000780008 RCV004998357 RCV004804772

NM_000059.4(BRCA2):c.3685G>A (p.Val1229Ile)

SNV
Germline

Chr13:32338040

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA018583

rs_786203538

4 SubmittersRCV000166889 RCV001216937 RCV001539347

NM_000059.4(BRCA2):c.3730A>G (p.Ile1244Val)

SNV
Germline

Chr13:32338085

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA018673

rs_786202091

3 SubmittersRCV000164731 RCV001326767

NM_000059.4(BRCA2):c.3865A>G (p.Lys1289Glu)

SNV
Germline

Chr13:32338220

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA019026

rs_786201943

8 SubmittersRCV000164489 RCV000758888 RCV000701526 RCV003483534 RCV004804734

NM_000059.4(BRCA2):c.3987A>T (p.Arg1329Ser)

SNV
Germline

Chr13:32338342

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
BRCA2-related disorder

Criteria Provided
Conflicting Classifications

CA019337

rs_786203361

7 SubmittersRCV000166638 RCV000236432 RCV000466166 RCV003995521 RCV004535127

NM_000059.4(BRCA2):c.4109G>C (p.Gly1370Ala)

SNV
Germline

Chr13:32338464

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
not specified
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA019538

rs_587781406

7 SubmittersRCV000165589 RCV000536926 RCV001800494 RCV003398848 RCV004804750

NM_000059.4(BRCA2):c.4116T>G (p.Phe1372Leu)

SNV
Germline

Chr13:32338471

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA019554

rs_786203478

4 SubmittersRCV000166797 RCV005089828

NM_000059.4(BRCA2):c.4232C>G (p.Ala1411Gly)

SNV
Germline

Chr13:32338587

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA019754

rs_786203320

3 SubmittersRCV000166581 RCV001204251

NM_000059.4(BRCA2):c.4312G>A (p.Val1438Ile)

SNV
Germline

Chr13:32338667

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Breast neoplasm
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA019946

rs_786202874

6 SubmittersRCV000165922 RCV000411249 RCV000677852 RCV003765037

NM_000059.4(BRCA2):c.4333A>G (p.Lys1445Glu)

SNV
Germline

Chr13:32338688

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA020001

rs_786203291

3 SubmittersRCV000166532 RCV002515163

NM_000059.4(BRCA2):c.4412G>T (p.Arg1471Ile)

SNV
Germline

Chr13:32338767

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA020137

rs_786203839

5 SubmittersRCV000167319 RCV000461661 RCV000590203 RCV003235087

NM_000059.4(BRCA2):c.4464C>A (p.His1488Gln)

SNV
Germline

Chr13:32338819

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
not specified
BRCA2-related disorder

Criteria Provided
Conflicting Classifications

CA020215

rs_786203743

7 SubmittersRCV000167179 RCV000814203 RCV001284425 RCV003398856 RCV004528919

NM_000059.4(BRCA2):c.4611A>C (p.Glu1537Asp)

SNV
Germline

Chr13:32338966

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2
8 conditions
not specified

Criteria Provided
Conflicting Classifications

CA020539

rs_786202313

9 SubmittersRCV000165057 RCV000535631 RCV000679174 RCV003995385 RCV005008076 RCV006456759

NM_000059.4(BRCA2):c.4759G>A (p.Ala1587Thr)

SNV
Germline

Chr13:32339114

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
not specified

Criteria Provided
Conflicting Classifications

CA020778

rs_56137239

8 SubmittersRCV000166660 RCV000236670 RCV000412143 RCV000690936 RCV000781116

NM_000059.4(BRCA2):c.4784A>C (p.Gln1595Pro)

SNV
Germline

Chr13:32339139

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA020833

rs_786201184

5 SubmittersRCV000163035 RCV000203834 RCV005246684

NM_000059.4(BRCA2):c.4795A>G (p.Asn1599Asp)

SNV
Germline

Chr13:32339150

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA020839

rs_786202703

3 SubmittersRCV000165644 RCV000695549

NM_000059.4(BRCA2):c.4813G>A (p.Val1605Ile)

SNV
Germline

Chr13:32339168

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA020865

rs_786201175

7 SubmittersRCV000162834 RCV000221573 RCV000637639 RCV003315984

NM_000059.4(BRCA2):c.4942G>A (p.Ala1648Thr)

SNV
Germline

Chr13:32339297

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Breast and/or ovarian cancer
Condition: not provided

Criteria Provided
Conflicting Classifications

CA021048

rs_786202248

9 SubmittersRCV000164966 RCV000239162 RCV000637534 RCV000769698 RCV002466457

NM_000059.4(BRCA2):c.4969A>C (p.Asn1657His)

SNV
Germline

Chr13:32339324

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
BRCA2-related disorder

Criteria Provided
Conflicting Classifications

CA021077

rs_587781599

5 SubmittersRCV000165819 RCV000474260 RCV001753563 RCV004535120

NM_000059.4(BRCA2):c.5023T>C (p.Cys1675Arg)

SNV
Germline

Chr13:32339378

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
8 conditions

Criteria Provided
Conflicting Classifications

CA021140

rs_786201420

7 SubmittersRCV000163597 RCV000534065 RCV001775641 RCV005008072

NM_000059.4(BRCA2):c.5026A>C (p.Ser1676Arg)

SNV
Germline

Chr13:32339381

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA021146

rs_786203719

3 SubmittersRCV000167143 RCV000814106

NM_000059.4(BRCA2):c.5081G>C (p.Arg1694Thr)

SNV
Germline

Chr13:32339436

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Breast and/or ovarian cancer
Hereditary breast ovarian cancer syndrome
not specified

Criteria Provided
Conflicting Classifications

CA021223

rs_753721331

7 SubmittersRCV000167215 RCV001798599 RCV001850363 RCV002267921

NM_000059.4(BRCA2):c.5120C>T (p.Thr1707Ile)

SNV
Germline

Chr13:32339475

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Malignant tumor of breast
Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA021317

rs_786202354

7 SubmittersRCV000165119 RCV000479876 RCV000709315 RCV000767034 RCV000989036

NM_000059.4(BRCA2):c.5126A>C (p.Asp1709Ala)

SNV
Germline

Chr13:32339481

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
8 conditions

Criteria Provided
Conflicting Classifications

CA021338

rs_786202836

10 SubmittersRCV000165854 RCV000236825 RCV000637498 RCV003995460 RCV005008080

NM_000059.4(BRCA2):c.5195T>C (p.Leu1732Pro)

SNV
Germline

Chr13:32339550

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA021653

rs_786202208

3 SubmittersRCV000164917 RCV000558082

NM_000059.4(BRCA2):c.5200G>A (p.Glu1734Lys)

SNV
Germline

Chr13:32339555

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
not specified
Breast-ovarian cancer, familial, susceptibility to, 2
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA021678

rs_786202543

12 SubmittersRCV000165399 RCV000205413 RCV000485722 RCV001804894 RCV003153445 RCV005359506

NM_000059.4(BRCA2):c.5220A>C (p.Leu1740Phe)

SNV
Germline

Chr13:32339575

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
8 conditions
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA021766

rs_750671399

9 SubmittersRCV000166604 RCV001234607 RCV002485034 RCV003329247 RCV003995516

NM_000059.4(BRCA2):c.5233A>G (p.Met1745Val)

SNV
Germline

Chr13:32339588

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA021819

rs_786202206

4 SubmittersRCV000164911 RCV000792468

NM_000059.4(BRCA2):c.5321C>T (p.Pro1774Leu)

SNV
Germline

Chr13:32339676

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA022016

rs_786203835

4 SubmittersRCV000167315 RCV000637795

NM_000059.4(BRCA2):c.5345A>C (p.Gln1782Pro)

SNV
Germline

Chr13:32339700

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA022082

rs_758959174

7 SubmittersRCV000164770 RCV001213972 RCV001550935 RCV003995364 RCV005359488

NM_000059.4(BRCA2):c.5353A>G (p.Thr1785Ala)

SNV
Germline

Chr13:32339708

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Breast-ovarian cancer, familial, susceptibility to, 2
8 conditions

Criteria Provided
Conflicting Classifications

CA022130

rs_786202394

10 SubmittersRCV000467313 RCV000772755 RCV000985544 RCV001193882 RCV003995398 RCV005008077

NM_000059.4(BRCA2):c.5535G>C (p.Arg1845Ser)

SNV
Germline

Chr13:32339890

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA022501

rs_786201997

5 SubmittersRCV000164573 RCV000637602 RCV004998323

NM_000059.4(BRCA2):c.5537T>C (p.Ile1846Thr)

SNV
Germline

Chr13:32339892

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA022511

rs_763330257

6 SubmittersRCV000165182 RCV001207899 RCV001812144 RCV003316038 RCV004804744

NM_000059.4(BRCA2):c.5591A>G (p.Asp1864Gly)

SNV
Germline

Chr13:32339946

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA022654

rs_786202808

4 SubmittersRCV000165818 RCV000412174 RCV000820675

NM_000059.4(BRCA2):c.5626G>A (p.Glu1876Lys)

SNV
Germline

Chr13:32339981

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
not specified
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA022738

rs_397507793

9 SubmittersRCV000164837 RCV000637513 RCV000758910 RCV001824652 RCV003995368

NM_000059.4(BRCA2):c.5635G>T (p.Glu1879Ter)

SNV
Germline

Chr13:32339990

Pathogenic

Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary breast ovarian cancer syndrome
Gastric cancer
Familial cancer of breast

Reviewed By Expert Panel

CA022785

rs_55996097

11 SubmittersRCV000165477 RCV000241263 RCV000508159 RCV000706650 RCV003162701 RCV003474867

NM_000059.4(BRCA2):c.5659A>G (p.Thr1887Ala)

SNV
Germline

Chr13:32340014

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome
8 conditions
Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA022882

rs_786202618

9 SubmittersRCV000165513 RCV000436206 RCV000553184 RCV005008078 RCV003995422 RCV006259113

NM_000059.4(BRCA2):c.5674G>A (p.Gly1892Ser)

SNV
Germline

Chr13:32340029

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2
not specified

Criteria Provided
Conflicting Classifications

CA022938

rs_786203948

8 SubmittersRCV000167472 RCV000695914 RCV000985549 RCV000989041 RCV001255551

NM_000059.4(BRCA2):c.5677T>G (p.Cys1893Gly)

SNV
Germline

Chr13:32340032

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA022949

rs_786203261

7 SubmittersRCV000166490 RCV000504158 RCV001850344 RCV003483544

NM_000059.4(BRCA2):c.5702A>T (p.Glu1901Val)

SNV
Germline

Chr13:32340057

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
not specified
Condition: not provided
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA023011

rs_773600818

12 SubmittersRCV000166961 RCV000531229 RCV000663324 RCV004700512 RCV002464137 RCV005361029

NM_000059.4(BRCA2):c.5704G>T (p.Asp1902Tyr)

SNV
Germline

Chr13:32340059

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA023017

rs_4987048

7 SubmittersRCV000167499 RCV000236520 RCV000696829

NM_000059.4(BRCA2):c.5778T>A (p.Ser1926Arg)

SNV
Germline

Chr13:32340133

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA023215

rs_772324268

3 SubmittersRCV000164880 RCV003644921

NM_000059.4(BRCA2):c.5792A>G (p.Gln1931Arg)

SNV
Germline

Chr13:32340147

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
BRCA2-related cancer predisposition
Condition: not provided

Criteria Provided
Conflicting Classifications

CA023244

rs_786202537

6 SubmittersRCV000165387 RCV001233270 RCV004804748 RCV005256572

NM_000059.4(BRCA2):c.5796T>A (p.His1932Gln)

SNV
Germline

Chr13:32340151

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA023252

rs_786203515

3 SubmittersRCV000166852 RCV001325508

NM_000059.4(BRCA2):c.5808G>A (p.Met1936Ile)

SNV
Germline

Chr13:32340163

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
not specified
BRCA2-related disorder
Familial cancer of breast
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA023262

rs_759138390

16 SubmittersRCV000165123 RCV000457784 RCV000663021 RCV001283931 RCV001818377 RCV004732726 RCV005411361 RCV005359500

NM_000059.4(BRCA2):c.5987C>G (p.Ala1996Gly)

SNV
Germline

Chr13:32340342

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast and/or ovarian cancer
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 2
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA023462

rs_80358834

7 SubmittersRCV000167386 RCV001301365 RCV003150032 RCV003607254 RCV005361037

NM_000059.4(BRCA2):c.5993A>C (p.Gln1998Pro)

SNV
Germline

Chr13:32340348

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA023474

rs_80358835

4 SubmittersRCV000164697 RCV000758916 RCV002515145

NM_000059.4(BRCA2):c.6062A>G (p.His2021Arg)

SNV
Germline

Chr13:32340417

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA023588

rs_780621780

7 SubmittersRCV000165232 RCV000588995 RCV001364172 RCV003483536

NM_000059.4(BRCA2):c.6094G>A (p.Ala2032Thr)

SNV
Germline

Chr13:32340449

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA023640

rs_786203284

3 SubmittersRCV000166519 RCV000703786

NM_000059.4(BRCA2):c.6095C>T (p.Ala2032Val)

SNV
Germline

Chr13:32340450

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA023642

rs_786202701

8 SubmittersRCV000165642 RCV000229460 RCV001284097 RCV003491902 RCV003995442

NM_000059.4(BRCA2):c.6113A>G (p.His2038Arg)

SNV
Germline

Chr13:32340468

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA023665

rs_786203039

6 SubmittersRCV000166172 RCV000702688 RCV003477625 RCV004689640

NM_000059.4(BRCA2):c.6155C>A (p.Ser2052Ter)

SNV
Germline

Chr13:32340510

Pathogenic

Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary breast ovarian cancer syndrome
Familial cancer of breast

Reviewed By Expert Panel

CA023704

rs_786202461

7 SubmittersRCV000165281 RCV000241265 RCV000758921 RCV001047465 RCV003462167

NM_000059.4(BRCA2):c.6160G>A (p.Ala2054Thr)

SNV
Germline

Chr13:32340515

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA023706

rs_80358855

6 SubmittersRCV000167216 RCV002267922 RCV001850364

NM_000059.4(BRCA2):c.6253T>G (p.Leu2085Val)

SNV
Germline

Chr13:32340608

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA023788

rs_761996223

5 SubmittersRCV000165245 RCV001850313 RCV004797787

NM_000059.4(BRCA2):c.6445A>G (p.Ile2149Val)

SNV
Germline

Chr13:32340800

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA024052

rs_786202013

3 SubmittersRCV000164603 RCV001337627

NM_000059.4(BRCA2):c.6467C>T (p.Ser2156Phe)

SNV
Germline

Chr13:32340822

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
not specified
Condition: not provided
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA024085

rs_765575482

9 SubmittersRCV000165921 RCV000227586 RCV000663149 RCV001269137 RCV001726015 RCV003607252

NM_000059.4(BRCA2):c.6482A>G (p.Asp2161Gly)

SNV
Germline

Chr13:32340837

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA024097

rs_786201744

5 SubmittersRCV000164193 RCV001071522 RCV001582645

NM_000059.4(BRCA2):c.6497T>C (p.Val2166Ala)

SNV
Germline

Chr13:32340852

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA024117

rs_786202572

3 SubmittersRCV000165437 RCV002516481

NM_000059.4(BRCA2):c.6553G>A (p.Ala2185Thr)

SNV
Germline

Chr13:32340908

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA024164

rs_746070652

5 SubmittersRCV000165385 RCV000637749 RCV001580461

NM_000059.4(BRCA2):c.6691G>A (p.Ala2231Thr)

SNV
Germline

Chr13:32341046

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
BRCA2-related cancer predisposition
8 conditions

Criteria Provided
Conflicting Classifications

CA024298

rs_758379999

9 SubmittersRCV000166928 RCV000589983 RCV000637506 RCV004804769 RCV005008083

NM_000059.4(BRCA2):c.6694A>G (p.Lys2232Glu)

SNV
Germline

Chr13:32341049

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA024303

rs_781219481

3 SubmittersRCV000164702 RCV001364516

NM_000059.4(BRCA2):c.6695A>T (p.Lys2232Ile)

SNV
Germline

Chr13:32341050

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
8 conditions
Condition: not provided
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA024305

rs_786203098

6 SubmittersRCV000166254 RCV000818545 RCV002492668 RCV004760413 RCV004804761

NM_000059.4(BRCA2):c.6724G>A (p.Asp2242Asn)

SNV
Germline

Chr13:32341079

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA024342

rs_786202002

7 SubmittersRCV000164581 RCV000542638 RCV000590771 RCV003493472 RCV005359482

NM_000059.4(BRCA2):c.6761T>A (p.Phe2254Tyr)

SNV
Germline

Chr13:32341116

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
not specified
Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast and/or ovarian cancer
Malignant tumor of breast
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA024385

rs_786202915

13 SubmittersRCV000165980 RCV000238769 RCV000479534 RCV000530254 RCV000587444 RCV000735581 RCV001354021 RCV004804756

NM_000059.4(BRCA2):c.6829C>T (p.Leu2277Phe)

SNV
Germline

Chr13:32341184

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
Condition: not provided
8 conditions

Criteria Provided
Conflicting Classifications

CA024470

rs_786202214

8 SubmittersRCV000164928 RCV000702609 RCV001201234 RCV003322754 RCV005008075

NM_000059.4(BRCA2):c.7081C>T (p.His2361Tyr)

SNV
Germline

Chr13:32354934

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA024848

rs_786203493

7 SubmittersRCV000166818 RCV000589542 RCV000804009 RCV003995535

NM_000059.4(BRCA2):c.7373A>G (p.Asn2458Ser)

SNV
Germline

Chr13:32355226

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA025045

rs_786202262

3 SubmittersRCV000164985 RCV000476898

NM_000059.4(BRCA2):c.7411A>G (p.Thr2471Ala)

SNV
Germline

Chr13:32355264

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
not specified

Criteria Provided
Conflicting Classifications

CA025061

rs_771087264

5 SubmittersRCV000165920 RCV004589778 RCV000527397 RCV003987384

NM_000059.4(BRCA2):c.7417T>C (p.Cys2473Arg)

SNV
Germline

Chr13:32355270

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA025070

rs_786202720

3 SubmittersRCV000165673 RCV000694064 RCV001092808

NM_000059.4(BRCA2):c.7429C>A (p.Pro2477Thr)

SNV
Germline

Chr13:32355282

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA025075

rs_80358964

5 SubmittersRCV000165122 RCV000531294 RCV000656619 RCV004804741

NM_000059.4(BRCA2):c.7457A>G (p.Asn2486Ser)

SNV
Germline

Chr13:32356449

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA025096

rs_786203755

8 SubmittersRCV000167198 RCV000255521 RCV000637396 RCV003454420 RCV004567333

NM_000059.4(BRCA2):c.7499G>A (p.Arg2500Lys)

SNV
Germline

Chr13:32356491

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA025118

rs_80358976

5 SubmittersRCV000166203 RCV000794184 RCV000989065 RCV004804759

NM_000059.4(BRCA2):c.7508T>A (p.Val2503Asp)

SNV
Germline

Chr13:32356500

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA025125

rs_786203292

3 SubmittersRCV000166533 RCV001284440 RCV003644925

NM_000059.4(BRCA2):c.7559G>T (p.Arg2520Leu)

SNV
Germline

Chr13:32356551

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA025149

rs_80358982

3 SubmittersRCV000166867 RCV000637575

NM_000059.4(BRCA2):c.7573G>A (p.Ala2525Thr)

SNV
Germline

Chr13:32356565

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA025160

rs_786203133

2 SubmittersRCV000166307 RCV001316025

NM_000059.4(BRCA2):c.7590A>C (p.Gln2530His)

SNV
Germline

Chr13:32356582

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA025165

rs_786202429

3 SubmittersRCV000165237 RCV003644923

NM_000059.4(BRCA2):c.7604G>A (p.Cys2535Tyr)

SNV
Germline

Chr13:32356596

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA025177

rs_786203482

5 SubmittersRCV000166802 RCV000507296 RCV000809247 RCV004019989

NM_000059.4(BRCA2):c.7718T>G (p.Leu2573Ter)

SNV
Germline

Chr13:32357842

Pathogenic

Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA025244

rs_786203680

3 SubmittersRCV000167091 RCV000241252 RCV006461689

NM_000059.4(BRCA2):c.7720T>C (p.Trp2574Arg)

SNV
Germline

Chr13:32357844

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA025246

rs_755002206

2 SubmittersRCV000164502 RCV001339508

NM_000059.4(BRCA2):c.7769C>G (p.Ser2590Cys)

SNV
Germline

Chr13:32357893

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Familial cancer of breast
not specified
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA025269

rs_786202615

6 SubmittersRCV000165510 RCV001038015 RCV001262737 RCV001193172 RCV003995421

NM_000059.4(BRCA2):c.7802A>G (p.Tyr2601Cys)

SNV
Germline

Chr13:32357926

Likely pathogenic

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA025278

rs_786202344

3 SubmittersRCV000165105 RCV000227777 RCV001171447

NM_000059.4(BRCA2):c.7901T>C (p.Met2634Thr)

SNV
Germline

Chr13:32362618

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA025326

rs_786202102

2 SubmittersRCV000164748 RCV001338140

NM_000059.4(BRCA2):c.7914T>G (p.Phe2638Leu)

SNV
Germline

Chr13:32362631

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Malignant tumor of breast
Breast-ovarian cancer, familial, susceptibility to, 2
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA025332

rs_764248927

8 SubmittersRCV000167304 RCV000480378 RCV000533964 RCV001355608 RCV003493478 RCV003474888

NM_000059.4(BRCA2):c.7939C>G (p.Leu2647Val)

SNV
Germline

Chr13:32362656

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA025345

rs_778391123

7 SubmittersRCV000165643 RCV000466343 RCV000731869 RCV003387782

NM_000059.4(BRCA2):c.7972T>C (p.Tyr2658His)

SNV
Germline

Chr13:32362689

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA025360

rs_786202719

2 SubmittersRCV000165671 RCV000529353

NM_000059.4(BRCA2):c.7976+5G>A

SNV
Germline

Chr13:32362698

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
not specified
Condition: not provided
Hereditary breast ovarian cancer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA025367

rs_786201180

8 SubmittersRCV000162937 RCV000258212 RCV000496302 RCV000586885 RCV000637349

NM_000059.4(BRCA2):c.7985C>T (p.Thr2662Met)

SNV
Germline

Chr13:32363187

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
not specified
Hereditary cancer
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA025383

rs_431825362

11 SubmittersRCV000163213 RCV000588790 RCV000989069 RCV001081809 RCV001175366 RCV004700499 RCV005365064

NM_000059.4(BRCA2):c.8007A>T (p.Arg2669Ser)

SNV
Germline

Chr13:32363209

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
8 conditions
Condition: not provided
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA025398

rs_143999963

6 SubmittersRCV000163073 RCV000637317 RCV000765141 RCV001753553 RCV004567230

NM_000059.4(BRCA2):c.8011G>T (p.Ala2671Ser)

SNV
Germline

Chr13:32363213

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Familial pancreatic carcinoma
not specified

Criteria Provided
Conflicting Classifications

CA025405

rs_786201976

7 SubmittersRCV000164537 RCV001207806 RCV001800483 RCV005359478 RCV005406866

NM_000059.4(BRCA2):c.8233C>G (p.Leu2745Val)

SNV
Germline

Chr13:32363435

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA025530

rs_786201752

3 SubmittersRCV000164205 RCV003530000

NM_000059.4(BRCA2):c.8293T>G (p.Cys2765Gly)

SNV
Germline

Chr13:32363495

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
not specified
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA025552

rs_768247528

11 SubmittersRCV000165936 RCV000226067 RCV000239098 RCV000478794 RCV001193319 RCV004567290

NM_000059.4(BRCA2):c.8317T>C (p.Ser2773Pro)

SNV
Germline

Chr13:32363519

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA025567

rs_143761565

3 SubmittersRCV000164532 RCV001303249 RCV003462139

NM_000059.4(BRCA2):c.8321T>G (p.Leu2774Arg)

SNV
Germline

Chr13:32363523

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA025569

rs_786203278

3 SubmittersRCV000166512 RCV000553827 RCV006259129

NM_000059.4(BRCA2):c.8332-1G>T

SNV
Germline

Chr13:32370401

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA025584

rs_397507979

7 SubmittersRCV000164696 RCV000258264 RCV000586321 RCV001311842

NM_000059.4(BRCA2):c.8422C>G (p.Leu2808Val)

SNV
Germline

Chr13:32370492

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Familial cancer of breast
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA025637

rs_786203867

6 SubmittersRCV000167360 RCV000801748 RCV000985602 RCV003462241 RCV004804776

NM_000059.4(BRCA2):c.8447G>A (p.Gly2816Asp)

SNV
Germline

Chr13:32370517

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA025648

rs_56096120

7 SubmittersRCV000164294 RCV000409132 RCV000637368 RCV003477608 RCV005431508

NM_000059.4(BRCA2):c.8450G>T (p.Cys2817Phe)

SNV
Germline

Chr13:32370520

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA025649

rs_786201992

11 SubmittersRCV000164566 RCV000229582 RCV000506092 RCV000985253 RCV003234771 RCV003462142

NM_000059.4(BRCA2):c.8479C>T (p.Pro2827Ser)

SNV
Germline

Chr13:32370549

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA025662

rs_786202484

4 SubmittersRCV000165319 RCV001551664 RCV001850315 RCV004804747

NM_000059.4(BRCA2):c.8516A>G (p.Tyr2839Cys)

SNV
Germline

Chr13:32370984

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA025689

rs_786202204

2 SubmittersRCV000164908 RCV001327069

NM_000059.4(BRCA2):c.8544A>T (p.Glu2848Asp)

SNV
Germline

Chr13:32371012

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA025702

rs_786201871

3 SubmittersRCV000164371 RCV000792993

NM_000059.4(BRCA2):c.8633A>G (p.Glu2878Gly)

SNV
Germline

Chr13:32376670

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA025754

rs_786203358

3 SubmittersRCV000166633 RCV000223363 RCV000637779

NM_000059.4(BRCA2):c.8739C>G (p.Asp2913Glu)

SNV
Germline

Chr13:32376776

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Breast and/or ovarian cancer
not specified
Familial cancer of breast
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA025798

rs_786201996

10 SubmittersRCV000164571 RCV000257980 RCV000238725 RCV000768610 RCV002509265 RCV004567247 RCV005359481

NM_000059.4(BRCA2):c.9125A>G (p.Asp3042Gly)

SNV
Germline

Chr13:32380014

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA026000

rs_786203001

3 SubmittersRCV000166102 RCV001850335 RCV002293424

NM_000059.4(BRCA2):c.9146A>G (p.Tyr3049Cys)

SNV
Germline

Chr13:32380035

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA026003

rs_200924727

2 SubmittersRCV000167158 RCV001062357

NM_000059.4(BRCA2):c.9171C>G (p.Phe3057Leu)

SNV
Germline

Chr13:32380060

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA026014

rs_747615055

6 SubmittersRCV000166134 RCV000687351 RCV002472957 RCV004804758

NM_000059.4(BRCA2):c.9205T>C (p.Cys3069Arg)

SNV
Germline

Chr13:32380094

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
Breast-ovarian cancer, familial, susceptibility to, 2
8 conditions

Criteria Provided
Conflicting Classifications

CA026030

rs_398122611

7 SubmittersRCV000167488 RCV001216692 RCV001818400 RCV003493479 RCV005008084

NM_000059.4(BRCA2):c.9209C>T (p.Ser3070Phe)

SNV
Germline

Chr13:32380098

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA026034

rs_747837583

7 SubmittersRCV000166326 RCV000220690 RCV000554071 RCV003462211 RCV003995500

NM_000059.4(BRCA2):c.9338T>C (p.Ile3113Thr)

SNV
Germline

Chr13:32394770

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
not specified
Condition: not provided
Breast and/or ovarian cancer
Malignant tumor of breast
BRCA2-related disorder
Familial cancer of breast
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA026107

rs_770003991

15 SubmittersRCV000168350 RCV000166690 RCV000411698 RCV000496448 RCV000679197 RCV000735624 RCV001353738 RCV004528917 RCV004567312 RCV004804766

NM_000059.4(BRCA2):c.9437T>C (p.Phe3146Ser)

SNV
Germline

Chr13:32394869

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA026158

rs_786202000

5 SubmittersRCV000164578 RCV001071583 RCV003493471 RCV004696861

NM_000059.4(BRCA2):c.9649A>C (p.Met3217Leu)

SNV
Germline

Chr13:32398162

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA026257

rs_786203000

4 SubmittersRCV000166101 RCV000527255 RCV003477624

NM_000059.4(BRCA2):c.9956C>T (p.Ser3319Phe)

SNV
Germline

Chr13:32398469

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA026347

rs_778694116

2 SubmittersRCV000165317 RCV000815048

NM_000059.4(BRCA2):c.10069A>G (p.Thr3357Ala)

SNV
Germline

Chr13:32398582

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA010123

rs_786203411

4 SubmittersRCV000166704 RCV000425088 RCV000706992 RCV003995526

NM_000059.4(BRCA2):c.10085T>C (p.Phe3362Ser)

SNV
Germline

Chr13:32398598

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA010174

rs_756978580

7 SubmittersRCV000163731 RCV001055211 RCV001508343

NM_024675.4(PALB2):c.2748+1G>T

SNV
Germline

Chr16:23626235

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Hereditary breast ovarian cancer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA193676

rs_753153576

12 SubmittersRCV000165555 RCV000487378 RCV000635768 RCV003155927

NM_024675.4(PALB2):c.2336C>G (p.Ser779Ter)

SNV
Germline

Chr16:23629818

Pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Hereditary breast ovarian cancer syndrome
PALB2-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA194883

rs_764509489

11 SubmittersRCV000166057 RCV000457524 RCV000480723 RCV003226227 RCV004528915

NM_024675.4(PALB2):c.2228A>G (p.Tyr743Cys)

SNV
Germline

Chr16:23629926

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Fanconi anemia complementation group N
not specified
Hereditary breast ovarian cancer syndrome
Breast and/or ovarian cancer
Familial pancreatic carcinoma

Criteria Provided
Conflicting Classifications

CA189784

rs_141749524

13 SubmittersRCV000164010 RCV000197626 RCV000255110 RCV000296163 RCV000781684 RCV001030648 RCV003150010 RCV005359455

NM_024675.4(PALB2):c.1451T>A (p.Leu484Ter)

SNV
Germline

Chr16:23635095

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Basal cell carcinoma
Generalized hypopigmentation
Hereditary breast ovarian cancer syndrome
Familial cancer of breast
Malignant tumor of breast
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA197580

rs_786203714

12 SubmittersRCV000167136 RCV000414940 RCV000587378 RCV001310142 RCV001356904 RCV001543564

NM_024675.4(PALB2):c.1379A>G (p.Gln460Arg)

SNV
Germline

Chr16:23635167

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group N
Condition: not provided
not specified
Hereditary breast ovarian cancer syndrome
Familial cancer of breast
PALB2-related disorder
Pancreatic cancer, susceptibility to, 3
Fanconi anemia complementation group N
Breast-ovarian cancer, familial, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA196834

rs_749494645

16 SubmittersRCV000166836 RCV000289282 RCV000483813 RCV000780567 RCV001030716 RCV000989572 RCV004739541 RCV005396492

NM_024675.4(PALB2):c.940C>T (p.Gln314Ter)

SNV
Germline

Chr16:23635606

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Hereditary breast ovarian cancer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA197949

rs_786203821

9 SubmittersRCV000167296 RCV000463323 RCV000523563 RCV000586368

NM_004360.5(CDH1):c.377C>T (p.Pro126Leu)

SNV
Germline

Chr16:68801883

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary diffuse gastric adenocarcinoma
Condition: not provided
6 conditions
Hereditary breast ovarian cancer syndrome
Hereditary diffuse gastric adenocarcinoma
Ovarian cancer
not specified

Criteria Provided
Conflicting Classifications

CA189509

rs_746703615

13 SubmittersRCV000163916 RCV000465184 RCV000679573 RCV000765302 RCV001030610 RCV005359450 RCV006273588

NM_001042492.3(NF1):c.6773G>A (p.Arg2258Gln)

SNV
Germline

Chr17:31338093

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Neurofibromatosis, type 1
Hereditary breast ovarian cancer syndrome
Condition: not provided
Juvenile myelomonocytic leukemia
Neurofibromatosis, type 1
Café-au-lait macules with pulmonary stenosis
Neurofibromatosis-Noonan syndrome
Neurofibromatosis, familial spinal
Hereditary cancer-predisposing syndrome
Cardiovascular phenotype
Juvenile myelomonocytic leukemia

Criteria Provided
Conflicting Classifications

CA191443

rs_786202030

8 SubmittersRCV000164632 RCV000709423 RCV001030640 RCV001550602 RCV002498815 RCV003162693 RCV003467300

NM_002878.4(RAD51D):c.898C>T (p.Arg300Ter)

SNV
Germline

Chr17:35101206

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 4
Condition: not provided
Hereditary breast ovarian cancer syndrome
Malignant tumor of breast
Ovarian neoplasm
Breast and/or ovarian cancer
Gastric cancer
Familial ovarian cancer
Inherited ovarian cancer (without breast cancer)
Inherited breast cancer and ovarian cancer
RAD51D-related cancer predisposition

Criteria Provided
Multiple Submitters
No Conflicts

CA190870

rs_750621215

25 SubmittersRCV000164406 RCV000227954 RCV000235877 RCV000709431 RCV001356854 RCV002463438 RCV001798583 RCV003162688 RCV005600771 RCV005646770 RCV006276076 RCV006554479

NM_002878.4(RAD51D):c.868C>T (p.Arg290Trp)

SNV
Germline

Chr17:35101236

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 4
Condition: not provided
Hereditary breast ovarian cancer syndrome
not specified

Criteria Provided
Conflicting Classifications

CA197219

rs_527964137

10 SubmittersRCV000166995 RCV000457545 RCV000589564 RCV004764778 RCV006273610

NM_002878.4(RAD51D):c.394G>A (p.Val132Ile)

SNV
Germline

Chr17:35107074

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 4
Condition: not provided
Malignant tumor of breast
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA191240

rs_201141245

15 SubmittersRCV000164547 RCV000458927 RCV000588322 RCV001356158 RCV004764772

NM_002878.4(RAD51D):c.185C>T (p.Ser62Leu)

SNV
Germline

Chr17:35118579

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 4
Breast and/or ovarian cancer
not specified
RAD51D-related disorder
Hereditary cancer
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA190835

rs_374357106

13 SubmittersRCV000164390 RCV000236527 RCV000461972 RCV001798582 RCV002281979 RCV004751306 RCV005230008 RCV005359471

NM_007294.4(BRCA1):c.5573T>C (p.Ile1858Thr)

SNV
Germline

Chr17:43045697

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA003728

rs_755427809

9 SubmittersRCV000166098 RCV000204222 RCV000239189 RCV000662947 RCV004998344

NM_007294.4(BRCA1):c.5512G>T (p.Val1838Leu)

SNV
Germline

Chr17:43045758

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA003689

rs_730881501

5 SubmittersRCV000164331 RCV000540103 RCV001072257

NM_007294.4(BRCA1):c.5429T>C (p.Val1810Ala)

SNV
Germline

Chr17:43047681

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Malignant tumor of breast
not specified

Criteria Provided
Conflicting Classifications

CA003590

rs_80357451

12 SubmittersRCV000165514 RCV000500971 RCV000662954 RCV000759560 RCV001357837 RCV002265645

NM_007294.4(BRCA1):c.5419A>G (p.Ile1807Val)

SNV
Germline

Chr17:43047691

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
BRCA1-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA003583

rs_786202721

5 SubmittersRCV000165675 RCV001041837 RCV001077384 RCV004804751

NM_007294.4(BRCA1):c.5396C>T (p.Thr1799Ile)

SNV
Germline

Chr17:43049131

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA003548

rs_786201945

5 SubmittersRCV000164491 RCV001077314 RCV001355404 RCV002515141

NM_007294.4(BRCA1):c.5278-3C>T

SNV
Germline

Chr17:43051120

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA003438

rs_786203963

3 SubmittersRCV000167493 RCV001076747 RCV001338264

NM_007294.4(BRCA1):c.5177G>T (p.Arg1726Ile)

SNV
Germline

Chr17:43063349

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA003325

rs_786203547

6 SubmittersRCV000166906 RCV000688928 RCV000985432 RCV001072432

NM_007294.4(BRCA1):c.5153-2A>G

SNV
Germline

Chr17:43063375

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA003300

rs_786202545

5 SubmittersRCV000165403 RCV000258356 RCV000464976

NM_007294.4(BRCA1):c.5147A>C (p.Tyr1716Ser)

SNV
Germline

Chr17:43063879

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA003270

rs_587782456

4 SubmittersRCV000166853 RCV001076448 RCV002516510

NM_007294.4(BRCA1):c.4891A>T (p.Ser1631Cys)

SNV
Germline

Chr17:43071023

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA003066

rs_786202734

3 SubmittersRCV000165696 RCV001077817 RCV005089813

NM_007294.4(BRCA1):c.4834C>T (p.Gln1612Ter)

SNV
Germline

Chr17:43071080

Pathogenic

Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Fanconi anemia, complementation group S
Breast-ovarian cancer, familial, susceptibility to, 1
Fanconi anemia, complementation group S
Pancreatic cancer, susceptibility to, 4

Reviewed By Expert Panel

CA003041

rs_786202064

9 SubmittersRCV000164690 RCV000241386 RCV000496345 RCV005359486 RCV005431511

NM_007294.4(BRCA1):c.4776C>G (p.Asn1592Lys)

SNV
Germline

Chr17:43071138

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Malignant tumor of breast
BRCA1-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA003018

rs_761925468

10 SubmittersRCV000162819 RCV000485047 RCV000590715 RCV000697143 RCV000616786 RCV001353751 RCV004804703

NM_007294.4(BRCA1):c.4775A>G (p.Asn1592Ser)

SNV
Germline

Chr17:43071139

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA003017

rs_786203699

3 SubmittersRCV000167119 RCV000548491

NM_007294.4(BRCA1):c.4675+3A>G

SNV
Germline

Chr17:43074328

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Malignant tumor of breast

Criteria Provided
Conflicting Classifications

CA002960

rs_80358082

6 SubmittersRCV000164653 RCV000463988 RCV000985423 RCV001353748

NM_007294.4(BRCA1):c.4675+1G>T

SNV
Germline

Chr17:43074330

Pathogenic

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA002958

rs_80358044

3 SubmittersRCV000164823 RCV000546055 RCV002247568

NM_007294.4(BRCA1):c.4594G>A (p.Val1532Ile)

SNV
Germline

Chr17:43074412

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA002920

rs_786201658

5 SubmittersRCV000164053 RCV001372827 RCV001812143 RCV006273590

NM_007294.4(BRCA1):c.4523G>A (p.Trp1508Ter)

SNV
Germline

Chr17:43074483

Pathogenic

Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary breast ovarian cancer syndrome
Pancreatic cancer, susceptibility to, 4
Fanconi anemia, complementation group S
Breast-ovarian cancer, familial, susceptibility to, 1

Reviewed By Expert Panel

CA002892

rs_786202631

8 SubmittersRCV000165536 RCV000241110 RCV000508652 RCV000793994 RCV003398845

NM_007294.4(BRCA1):c.4505C>A (p.Pro1502Gln)

SNV
Germline

Chr17:43074501

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA002888

rs_56335406

4 SubmittersRCV000164552 RCV000554945 RCV006259099

NM_007294.4(BRCA1):c.4297A>G (p.Ile1433Val)

SNV
Germline

Chr17:43082464

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA002754

rs_541512953

6 SubmittersRCV000166435 RCV000486992 RCV000539071 RCV003335162

NM_007294.4(BRCA1):c.4185+1G>A

SNV
Germline

Chr17:43090943

Pathogenic

Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary breast ovarian cancer syndrome
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 1
Pancreatic cancer, susceptibility to, 4
Fanconi anemia, complementation group S

Criteria Provided
Multiple Submitters
No Conflicts

CA002683

rs_80358076

7 SubmittersRCV000165984 RCV000625282 RCV001689709 RCV001850328 RCV002247571 RCV006605238

NM_007294.4(BRCA1):c.4144T>A (p.Cys1382Ser)

SNV
Germline

Chr17:43090985

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA002655

rs_786202106

7 SubmittersRCV000164753 RCV000199782 RCV000503432 RCV001353678 RCV001551019

NM_007294.4(BRCA1):c.4081A>G (p.Met1361Val)

SNV
Germline

Chr17:43091450

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA002609

rs_80357218

6 SubmittersRCV000165381 RCV001297657 RCV001770128 RCV003330523

NM_007294.4(BRCA1):c.3965A>C (p.Lys1322Thr)

SNV
Germline

Chr17:43091566

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA002538

rs_80357042

5 SubmittersRCV000164572 RCV000696194 RCV000757034

NM_007294.4(BRCA1):c.3901A>G (p.Ser1301Gly)

SNV
Germline

Chr17:43091630

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA002511

rs_786203580

3 SubmittersRCV000166958 RCV000808508

NM_007294.4(BRCA1):c.3874T>C (p.Ser1292Pro)

SNV
Germline

Chr17:43091657

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA002497

rs_786203823

6 SubmittersRCV000167298 RCV001221048 RCV003477639

NM_007294.4(BRCA1):c.3857G>C (p.Ser1286Thr)

SNV
Germline

Chr17:43091674

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary breast ovarian cancer syndrome
not specified

Criteria Provided
Conflicting Classifications

CA002485

rs_142383077

8 SubmittersRCV000167518 RCV000412224 RCV000985410 RCV001062471 RCV003317123

NM_007294.4(BRCA1):c.3816C>A (p.Asn1272Lys)

SNV
Germline

Chr17:43091715

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA002458

rs_786201893

4 SubmittersRCV000164411 RCV001850296

NM_007294.4(BRCA1):c.3807C>G (p.Asp1269Glu)

SNV
Germline

Chr17:43091724

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA002453

rs_786202569

3 SubmittersRCV000166592 RCV003765042

NM_007294.4(BRCA1):c.3758C>G (p.Ser1253Cys)

SNV
Germline

Chr17:43091773

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Breast and/or ovarian cancer
not specified
Malignant tumor of breast
Fanconi anemia, complementation group S
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 1
Pancreatic cancer, susceptibility to, 4
BRCA1-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA002409

rs_397509100

13 SubmittersRCV000165814 RCV000203862 RCV000411367 RCV000759525 RCV001170594 RCV001193747 RCV001354503 RCV002485026 RCV004804753

NM_007294.4(BRCA1):c.3644A>G (p.Asn1215Ser)

SNV
Germline

Chr17:43091887

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA002333

rs_786203310

4 SubmittersRCV000166562 RCV002298495 RCV004998348

NM_007294.4(BRCA1):c.3481G>T (p.Glu1161Ter)

SNV
Germline

Chr17:43092050

Pathogenic

Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Condition: not provided

Reviewed By Expert Panel

CA002246

rs_786203438

4 SubmittersRCV000166742 RCV000241297 RCV000461437 RCV000759524

NM_007294.4(BRCA1):c.3428C>G (p.Ser1143Cys)

SNV
Germline

Chr17:43092103

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA002217

rs_80357434

4 SubmittersRCV000166741 RCV000469615 RCV000759521

NM_007294.4(BRCA1):c.3411G>A (p.Met1137Ile)

SNV
Germline

Chr17:43092120

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA002205

rs_786202900

6 SubmittersRCV000165959 RCV000197284 RCV000410247 RCV004998340

NM_007294.4(BRCA1):c.3394A>G (p.Asn1132Asp)

SNV
Germline

Chr17:43092137

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 1
Breast-ovarian cancer, familial, susceptibility to, 1
Pancreatic cancer, susceptibility to, 4
Fanconi anemia, complementation group S

Criteria Provided
Conflicting Classifications

CA002194

rs_530464947

10 SubmittersRCV000162693 RCV000231870 RCV001174651 RCV001283894 RCV003995212 RCV005016485

NM_007294.4(BRCA1):c.3358G>A (p.Val1120Ile)

SNV
Germline

Chr17:43092173

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 1
BRCA1-related disorder
BRCA1-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA002179

rs_748894760

10 SubmittersRCV000163154 RCV000200265 RCV000235337 RCV000410885 RCV004554724 RCV004804709

NM_007294.4(BRCA1):c.3248T>C (p.Met1083Thr)

SNV
Germline

Chr17:43092283

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA002100

rs_786203958

5 SubmittersRCV000167486 RCV001202434 RCV006259143

NM_007294.4(BRCA1):c.3247A>G (p.Met1083Val)

SNV
Germline

Chr17:43092284

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Malignant tumor of breast
not specified
BRCA1-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA002099

rs_397507213

9 SubmittersRCV000164419 RCV000236937 RCV000473151 RCV001353671 RCV001526884 RCV004804733

NM_007294.4(BRCA1):c.3221G>C (p.Arg1074Thr)

SNV
Germline

Chr17:43092310

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA002088

rs_786202155

7 SubmittersRCV000164826 RCV000205205 RCV000662432 RCV003233478 RCV003398837

NM_007294.4(BRCA1):c.3211G>A (p.Glu1071Lys)

SNV
Germline

Chr17:43092320

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
not specified
Breast-ovarian cancer, familial, susceptibility to, 1
BRCA1-related disorder

Criteria Provided
Conflicting Classifications

CA002083

rs_41293445

10 SubmittersRCV000164153 RCV000255764 RCV001081229 RCV002271434 RCV003995319 RCV004554730

NM_007294.4(BRCA1):c.3157G>T (p.Glu1053Ter)

SNV
Germline

Chr17:43092374

Pathogenic

Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Condition: not provided

Reviewed By Expert Panel

CA002058

rs_786203587

4 SubmittersRCV000166966 RCV000241281 RCV001058924 RCV003314570

NM_007294.4(BRCA1):c.3083G>T (p.Arg1028Leu)

SNV
Germline

Chr17:43092448

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Pancreatic cancer, susceptibility to, 4
Breast-ovarian cancer, familial, susceptibility to, 1
Fanconi anemia, complementation group S

Criteria Provided
Conflicting Classifications

CA002022

rs_80357459

11 SubmittersRCV000165320 RCV000200747 RCV001290537 RCV003333739 RCV003321532 RCV005016495

NM_007294.4(BRCA1):c.3071G>A (p.Ser1024Asn)

SNV
Germline

Chr17:43092460

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA002014

rs_757579891

8 SubmittersRCV000167469 RCV000695024 RCV001251419 RCV001725131

NM_007294.4(BRCA1):c.3065C>T (p.Thr1022Ile)

SNV
Germline

Chr17:43092466

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
not specified

Criteria Provided
Conflicting Classifications

CA002011

rs_786202070

7 SubmittersRCV000164701 RCV000409623 RCV000470286 RCV001800487

NM_007294.4(BRCA1):c.3010G>C (p.Glu1004Gln)

SNV
Germline

Chr17:43092521

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA001961

rs_786202534

8 SubmittersRCV000165383 RCV000206269 RCV000587834

NM_007294.4(BRCA1):c.3004A>G (p.Asn1002Asp)

SNV
Germline

Chr17:43092527

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA001957

rs_786202665

6 SubmittersRCV000165586 RCV000506213 RCV000637571 RCV003995435

NM_007294.4(BRCA1):c.2987A>G (p.Lys996Arg)

SNV
Germline

Chr17:43092544

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA001940

rs_786202898

6 SubmittersRCV000165957 RCV000196543 RCV001575053 RCV003995465

NM_007294.4(BRCA1):c.2881A>C (p.Asn961His)

SNV
Germline

Chr17:43092650

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA001879

rs_786203786

4 SubmittersRCV000167239 RCV001052361 RCV002250582

NM_007294.4(BRCA1):c.2872T>C (p.Phe958Leu)

SNV
Germline

Chr17:43092659

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA001875

rs_80356878

6 SubmittersRCV000166226 RCV000637436 RCV001122178 RCV005230015

NM_007294.4(BRCA1):c.2773A>G (p.Ile925Val)

SNV
Germline

Chr17:43092758

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
not specified
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA001826

rs_4986847

9 SubmittersRCV000164476 RCV000235778 RCV000459020 RCV001192521 RCV003995345

NM_007294.4(BRCA1):c.2765C>T (p.Thr922Ile)

SNV
Germline

Chr17:43092766

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA001822

rs_80357460

3 SubmittersRCV000167154 RCV003644927

NM_007294.4(BRCA1):c.2666C>T (p.Ser889Phe)

SNV
Germline

Chr17:43092865

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
not specified
Familial pancreatic carcinoma

Criteria Provided
Conflicting Classifications

CA001744

rs_769712441

9 SubmittersRCV000166405 RCV000232849 RCV000758802 RCV002267918 RCV005361014

NM_007294.4(BRCA1):c.2630A>G (p.Asn877Ser)

SNV
Germline

Chr17:43092901

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast and/or ovarian cancer
not specified
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA001725

rs_786203689

7 SubmittersRCV000167105 RCV000705043 RCV001170819 RCV003321535 RCV003995556

NM_007294.4(BRCA1):c.2564A>C (p.Gln855Pro)

SNV
Germline

Chr17:43092967

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA001691

rs_768001441

7 SubmittersRCV000165754 RCV000506725 RCV000637567 RCV000758797

NM_007294.4(BRCA1):c.2536G>A (p.Glu846Lys)

SNV
Germline

Chr17:43092995

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA001677

rs_786203523

5 SubmittersRCV000166865 RCV001269093 RCV001369638

NM_007294.4(BRCA1):c.2518A>G (p.Ser840Gly)

SNV
Germline

Chr17:43093013

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
not specified
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA001667

rs_377475866

8 SubmittersRCV000167194 RCV000232315 RCV000759508 RCV001193116 RCV003995572

NM_007294.4(BRCA1):c.2500G>C (p.Gly834Arg)

SNV
Germline

Chr17:43093031

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA001658

rs_786202215

6 SubmittersRCV000164931 RCV000590464 RCV000695556

NM_007294.4(BRCA1):c.2410C>G (p.Gln804Glu)

SNV
Germline

Chr17:43093121

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA001602

rs_80356982

4 SubmittersRCV000166373 RCV001348588

NM_007294.4(BRCA1):c.2281G>C (p.Glu761Gln)

SNV
Germline

Chr17:43093250

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
not specified
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA001521

rs_397507198

7 SubmittersRCV000165203 RCV001235784 RCV001815240 RCV002267912 RCV003483535

NM_007294.4(BRCA1):c.2238C>A (p.Asp746Glu)

SNV
Germline

Chr17:43093293

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA001498

rs_786202757

3 SubmittersRCV000165731 RCV005089814

NM_007294.4(BRCA1):c.2218G>T (p.Val740Leu)

SNV
Germline

Chr17:43093313

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
not specified
Pancreatic cancer, susceptibility to, 4
Breast-ovarian cancer, familial, susceptibility to, 1
Fanconi anemia, complementation group S

Criteria Provided
Conflicting Classifications

CA001489

rs_80357415

7 SubmittersRCV000164916 RCV000539119 RCV000662700 RCV001328454 RCV005016492

NM_007294.4(BRCA1):c.2134T>C (p.Cys712Arg)

SNV
Germline

Chr17:43093397

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA001433

rs_786202015

3 SubmittersRCV000164607 RCV006612243

NM_007294.4(BRCA1):c.2014A>G (p.Lys672Glu)

SNV
Germline

Chr17:43093517

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA001341

rs_397508929

3 SubmittersRCV000165923 RCV006461684

NM_007294.4(BRCA1):c.1966A>G (p.Asn656Asp)

SNV
Germline

Chr17:43093565

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA001312

rs_786203455

6 SubmittersRCV000166768 RCV001850355 RCV003483549 RCV004998353

NM_007294.4(BRCA1):c.1838G>A (p.Arg613Lys)

SNV
Germline

Chr17:43093693

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA001198

rs_786203937

5 SubmittersRCV000167455 RCV000473402 RCV001283892

NM_007294.4(BRCA1):c.1775G>A (p.Ser592Asn)

SNV
Germline

Chr17:43093756

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA001156

rs_786203044

7 SubmittersRCV000166178 RCV000697218 RCV000989902 RCV001358638

NM_007294.4(BRCA1):c.1745C>T (p.Thr582Met)

SNV
Germline

Chr17:43093786

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Pancreatic cancer, susceptibility to, 4
Fanconi anemia, complementation group S
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
BRCA1-related cancer predisposition
not specified

Criteria Provided
Conflicting Classifications

CA001143

rs_786202386

11 SubmittersRCV000165167 RCV000227464 RCV000764124 RCV001128034 RCV001555644 RCV004804743 RCV004767104

NM_007294.4(BRCA1):c.1724A>G (p.Glu575Gly)

SNV
Germline

Chr17:43093807

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
not specified
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer

Criteria Provided
Conflicting Classifications

CA001129

rs_111539978

11 SubmittersRCV000165640 RCV000234745 RCV000587405 RCV001420708 RCV003995441 RCV004700509

NM_007294.4(BRCA1):c.1713A>G (p.Ile571Met)

SNV
Germline

Chr17:43093818

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA001123

rs_552505690

8 SubmittersRCV000165574 RCV000458990 RCV000662805 RCV000985373 RCV004586585

NM_007294.4(BRCA1):c.1702C>T (p.Pro568Ser)

SNV
Germline

Chr17:43093829

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA001115

rs_755122577

6 SubmittersRCV000164418 RCV000548977 RCV001797648 RCV004998318

NM_007294.4(BRCA1):c.1342C>T (p.His448Tyr)

SNV
Germline

Chr17:43094189

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
BRCA1-related cancer predisposition
Condition: not provided

Criteria Provided
Conflicting Classifications

CA000880

rs_786203578

7 SubmittersRCV000166956 RCV000549550 RCV001192525 RCV004804770 RCV004998355

NM_007294.4(BRCA1):c.1300A>G (p.Ser434Gly)

SNV
Germline

Chr17:43094231

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA000850

rs_786203753

4 SubmittersRCV000167196 RCV002516516 RCV003316061

NM_007294.4(BRCA1):c.1286T>C (p.Ile429Thr)

SNV
Germline

Chr17:43094245

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
Breast-ovarian cancer, familial, susceptibility to, 1
Fanconi anemia, complementation group S
Breast-ovarian cancer, familial, susceptibility to, 1
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA000840

rs_775869160

7 SubmittersRCV000167163 RCV000637559 RCV001800506 RCV003995567 RCV005361032

NM_007294.4(BRCA1):c.1226T>C (p.Val409Ala)

SNV
Germline

Chr17:43094305

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA000802

rs_786202539

5 SubmittersRCV000165390 RCV001209309 RCV001770129

NM_007294.4(BRCA1):c.1186G>A (p.Asp396Asn)

SNV
Germline

Chr17:43094345

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA000782

rs_786203145

4 SubmittersRCV000166322 RCV000815438

NM_007294.4(BRCA1):c.1163G>C (p.Arg388Thr)

SNV
Germline

Chr17:43094368

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA000769

rs_786203567

3 SubmittersRCV000166942 RCV001321385

NM_007294.4(BRCA1):c.1131C>A (p.Ser377Arg)

SNV
Germline

Chr17:43094400

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA000757

rs_786203434

5 SubmittersRCV000166736 RCV000411948 RCV001204055

NM_007294.4(BRCA1):c.985A>T (p.Asn329Tyr)

SNV
Germline

Chr17:43094546

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 1
not specified

Criteria Provided
Conflicting Classifications

CA004000

rs_786203732

9 SubmittersRCV000167164 RCV000196902 RCV000759566 RCV003995568 RCV004767111

NM_007294.4(BRCA1):c.845C>T (p.Ser282Leu)

SNV
Germline

Chr17:43094686

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA003936

rs_786203027

5 SubmittersRCV000166150 RCV000824141 RCV003480070

NM_007294.4(BRCA1):c.811G>T (p.Val271Leu)

SNV
Germline

Chr17:43094720

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA003908

rs_80357244

3 SubmittersRCV000167147 RCV000689692

NM_007294.4(BRCA1):c.778A>C (p.Lys260Gln)

SNV
Germline

Chr17:43094753

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA003863

rs_786202263

3 SubmittersRCV000164987 RCV005089807

NM_007294.4(BRCA1):c.683T>A (p.Phe228Tyr)

SNV
Germline

Chr17:43094848

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome
Fanconi anemia, complementation group S
Breast-ovarian cancer, familial, susceptibility to, 1
Familial cancer of breast
Condition: not provided

Criteria Provided
Conflicting Classifications

CA003812

rs_191872612

7 SubmittersRCV000166112 RCV000503325 RCV001042814 RCV005359519 RCV006259123

NM_007294.4(BRCA1):c.212G>T (p.Arg71Met)

SNV
Germline

Chr17:43106456

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
not specified
Hereditary breast ovarian cancer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA001421

rs_80356913

5 SubmittersRCV000165177 RCV000258240 RCV000496554 RCV001053345

NM_007294.4(BRCA1):c.101C>T (p.Pro34Leu)

SNV
Germline

Chr17:43115759

Likely pathogenic

Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary breast ovarian cancer syndrome
BRCA1-related cancer predisposition

Reviewed By Expert Panel

CA000691

rs_786203319

5 SubmittersRCV000166579 RCV001076184 RCV001284282 RCV001850347 RCV006276077

NM_007294.4(BRCA1):c.20G>A (p.Arg7His)

SNV
Germline

Chr17:43124077

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Pancreatic cancer, susceptibility to, 4
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 1
Fanconi anemia, complementation group S
Breast-ovarian cancer, familial, susceptibility to, 1
Pancreatic cancer, susceptibility to, 4
Breast-ovarian cancer, familial, susceptibility to, 1
Fanconi anemia, complementation group S
not specified

Criteria Provided
Conflicting Classifications

CA001390

rs_144792613

11 SubmittersRCV000164210 RCV000543291 RCV000588310 RCV000764129 RCV001072325 RCV005016488 RCV005237612

NM_058216.3(RAD51C):c.7G>A (p.Gly3Arg)

SNV
Germline

Chr17:58692650

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group O
Condition: not provided
not specified
Breast-ovarian cancer, familial, susceptibility to, 3
Familial ovarian cancer
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA188884

rs_376403182

10 SubmittersRCV000163662 RCV000228544 RCV000479892 RCV001195006 RCV005425760 RCV005600768 RCV005365073

NM_058216.3(RAD51C):c.252G>T (p.Lys84Asn)

SNV
Germline

Chr17:58695037

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group O
not specified
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 3
RAD51C-related disorder
Familial ovarian cancer
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA194603

rs_786202890

11 SubmittersRCV000165944 RCV000195928 RCV000781943 RCV001576516 RCV001535599 RCV004535123 RCV005600786 RCV005889626

NM_058216.3(RAD51C):c.340G>A (p.Gly114Arg)

SNV
Germline

Chr17:58695125

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Fanconi anemia complementation group O
RAD51C-related disorder
Breast-ovarian cancer, familial, susceptibility to, 3
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA197508

rs_786203690

9 SubmittersRCV000167106 RCV000586168 RCV000793970 RCV004734763 RCV005246748 RCV005638458

NM_058216.3(RAD51C):c.458G>A (p.Gly153Asp)

SNV
Germline

Chr17:58696746

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group O
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 3
not specified
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA191975

rs_765730332

11 SubmittersRCV000164871 RCV000226827 RCV000587056 RCV001262192 RCV003150961 RCV006456758

NM_058216.3(RAD51C):c.630T>G (p.Tyr210Ter)

SNV
Germline

Chr17:58703254

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group O
Condition: not provided
Hereditary breast ovarian cancer syndrome
Breast and/or ovarian cancer
Breast-ovarian cancer, familial, susceptibility to, 3

Criteria Provided
Multiple Submitters
No Conflicts

CA190934

rs_786201909

9 SubmittersRCV000164432 RCV000529934 RCV000657719 RCV001194263 RCV001798584 RCV003467296

NM_058216.3(RAD51C):c.635G>A (p.Arg212His)

SNV
Germline

Chr17:58703259

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group O
Breast-ovarian cancer, familial, susceptibility to, 3
Condition: not provided
Hereditary breast ovarian cancer syndrome
not specified
Breast-ovarian cancer, familial, susceptibility to, 3
Fanconi anemia complementation group O
Ovarian cancer

Criteria Provided
Conflicting Classifications

CA198151

rs_200857129

15 SubmittersRCV000167379 RCV000412279 RCV000409423 RCV000588404 RCV001030587 RCV002295286 RCV002505216 RCV003153459

NM_058216.3(RAD51C):c.709C>T (p.Arg237Ter)

SNV
Germline

Chr17:58709862

Pathogenic

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group O
Condition: not provided
Fanconi anemia complementation group O
Breast-ovarian cancer, familial, susceptibility to, 3
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 3
Breast carcinoma
Gastric cancer
Inherited breast cancer and ovarian cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA194618

rs_770637624

20 SubmittersRCV000165947 RCV000233212 RCV000484844 RCV000576766 RCV000709509 RCV001356354 RCV001554261 RCV003162706 RCV006605237

NM_058216.3(RAD51C):c.870T>A (p.Ile290=)

SNV
Germline

Chr17:58720778

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group O
Hereditary breast ovarian cancer syndrome
Condition: not provided
Malignant tumor of breast
not specified
Breast and/or ovarian cancer
Familial ovarian cancer
Breast-ovarian cancer, familial, susceptibility to, 3

Criteria Provided
Conflicting Classifications

CA189363

rs_376402418

15 SubmittersRCV000163858 RCV000204484 RCV000709515 RCV001640217 RCV001356136 RCV001818371 RCV001798579 RCV005600769 RCV005420620

NM_032043.3(BRIP1):c.751C>T (p.Arg251Cys)

SNV
Germline

Chr17:61808634

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group J
Condition: not provided
Fanconi anemia complementation group J
Hereditary breast ovarian cancer syndrome
Familial cancer of breast
Familial ovarian cancer
BRIP1-related disorder
Fanconi anemia complementation group J
Ovarian cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA193144

rs_752309409

19 SubmittersRCV000165345 RCV000206065 RCV000219928 RCV001781512 RCV002225482 RCV003316042 RCV005359503 RCV004732727 RCV005430242

NM_032043.3(BRIP1):c.484C>T (p.Arg162Ter)

SNV
Germline

Chr17:61849152

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group J
Condition: not provided
Hereditary breast ovarian cancer syndrome
Fanconi anemia complementation group J
Gastric cancer
Familial cancer of breast
BRIP1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA194744

rs_747604569

13 SubmittersRCV000166003 RCV000198978 RCV000484711 RCV000588178 RCV001781513 RCV003162707 RCV003335159 RCV004539556

NM_000546.6(TP53):c.419C>A (p.Thr140Asn)

SNV
Germline

Chr17:7675193

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA000172

rs_786202561

3 SubmittersRCV000165423 RCV004804749

NM_007194.4(CHEK2):c.1260-1G>A

SNV
Germline

Chr22:28695243

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
not specified
CHEK2-related cancer predisposition
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA190921

rs_786201906

6 SubmittersRCV000164426 RCV000698566 RCV003320461 RCV005414472 RCV005411360

NM_007194.4(CHEK2):c.85C>T (p.Gln29Ter)

SNV
Germline

Chr22:28734637

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Hereditary nonpolyposis colon cancer
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA198320

rs_761494650

13 SubmittersRCV000167444 RCV000228262 RCV000485654 RCV005361040 RCV006261738

NM_000059.4(BRCA2):c.2389A>G (p.Lys797Glu)

SNV
Germline

Chr13:32336744

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA015104

rs_587782737

11 SubmittersRCV000574060 RCV000168301 RCV000496950 RCV000985478 RCV003995622

NM_000059.4(BRCA2):c.3071T>C (p.Ile1024Thr)

SNV
Germline

Chr13:32337426

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2
not specified
BRCA2-related disorder
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA017158

rs_764921920

9 SubmittersRCV000167880 RCV000564299 RCV000587236 RCV000662817 RCV000855582 RCV004732732 RCV004804777

NM_000059.4(BRCA2):c.3346A>G (p.Thr1116Ala)

SNV
Germline

Chr13:32337701

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA017810

rs_786204212

4 SubmittersRCV000168327 RCV001191384

NM_000059.4(BRCA2):c.4204A>C (p.Asn1402His)

SNV
Germline

Chr13:32338559

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA019715

rs_786204062

5 SubmittersRCV000167928 RCV000222929 RCV001284423

NM_000059.4(BRCA2):c.4627A>G (p.Lys1543Glu)

SNV
Germline

Chr13:32338982

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA020550

rs_786204239

8 SubmittersRCV000168397 RCV000569285 RCV000989031 RCV000985531 RCV005361050

NM_000059.4(BRCA2):c.5675G>A (p.Gly1892Asp)

SNV
Germline

Chr13:32340030

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA022943

rs_786204067

4 SubmittersRCV000167952 RCV000776356

NM_000059.4(BRCA2):c.5969A>G (p.Asp1990Gly)

SNV
Germline

Chr13:32340324

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA023435

rs_148618542

4 SubmittersRCV000168315 RCV000567352

NM_000059.4(BRCA2):c.8515T>C (p.Tyr2839His)

SNV
Germline

Chr13:32370983

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 2
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA025688

rs_758884639

11 SubmittersRCV000167960 RCV000580149 RCV000586024 RCV002250583 RCV003493481 RCV004804778

NM_000059.4(BRCA2):c.9160C>T (p.Pro3054Ser)

SNV
Germline

Chr13:32380049

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified
Familial cancer of breast
Condition: not provided

Criteria Provided
Conflicting Classifications

CA026009

rs_786204070

6 SubmittersRCV000167956 RCV001185075 RCV001731497 RCV004567359 RCV005230027

NM_007294.4(BRCA1):c.3091A>G (p.Ile1031Val)

SNV
Germline

Chr17:43092440

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
BRCA1-related disorder

Criteria Provided
Conflicting Classifications

CA002024

rs_786203979

5 SubmittersRCV000168281 RCV000708677 RCV004554741

NM_007294.4(BRCA1):c.2425G>A (p.Glu809Lys)

SNV
Germline

Chr17:43093106

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA001619

rs_786204151

8 SubmittersRCV000168142 RCV000662597 RCV000569597 RCV000985388

NM_007294.4(BRCA1):c.2231C>A (p.Ala744Asp)

SNV
Germline

Chr17:43093300

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA001494

rs_786204220

3 SubmittersRCV000168347 RCV001014829

NM_007294.4(BRCA1):c.1925A>G (p.Asp642Gly)

SNV
Germline

Chr17:43093606

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA001272

rs_786204049

4 SubmittersRCV000167894 RCV000571477

NM_007294.4(BRCA1):c.1802A>G (p.His601Arg)

SNV
Germline

Chr17:43093729

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 1
not specified

Criteria Provided
Conflicting Classifications

CA001172

rs_371631805

9 SubmittersRCV000168128 RCV000220587 RCV000587213 RCV000663081 RCV003323423

NM_000059.4(BRCA2):c.811G>A (p.Gly271Arg)

SNV
Germline

Chr13:32332289

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast and/or ovarian cancer
not specified
Hereditary cancer
BRCA2-related cancer predisposition
Familial colorectal cancer type X

Criteria Provided
Conflicting Classifications

CA025461

rs_786204274

12 SubmittersRCV000218275 RCV000560451 RCV000657096 RCV001170224 RCV001193280 RCV003491925 RCV004804780 RCV005361051

NM_000059.4(BRCA2):c.1594G>A (p.Glu532Lys)

SNV
Germline

Chr13:32333072

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Malignant tumor of breast
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA012531

rs_138734772

8 SubmittersRCV000210974 RCV000502252 RCV000759578 RCV001012315 RCV000804265

NM_000059.4(BRCA2):c.4898T>C (p.Ile1633Thr)

SNV
Germline

Chr13:32339253

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA020977

rs_80358714

6 SubmittersRCV000220621 RCV001850380 RCV003736616

NM_000059.4(BRCA2):c.5173G>A (p.Ala1725Thr)

SNV
Germline

Chr13:32339528

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA021584

rs_786204275

2 SubmittersRCV002020348 RCV003157041

NM_000059.4(BRCA2):c.5465A>G (p.Asn1822Ser)

SNV
Germline

Chr13:32339820

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA022360

rs_587781580

4 SubmittersRCV001284432 RCV001348712 RCV002345560

NM_000059.4(BRCA2):c.5926G>A (p.Gly1976Arg)

SNV
Germline

Chr13:32340281

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA023376

rs_786204277

3 SubmittersRCV001341135 RCV002354410

NM_000059.4(BRCA2):c.6017G>C (p.Ser2006Thr)

SNV
Germline

Chr13:32340372

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
not specified
Hereditary cancer-predisposing syndrome
Breast and/or ovarian cancer
Condition: not provided
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA023520

rs_144784912

9 SubmittersRCV000204206 RCV000239063 RCV000570534 RCV000735579 RCV001762394 RCV002250584

NM_000059.4(BRCA2):c.7008-1G>A

SNV
Germline

Chr13:32354860

Pathogenic

Breast and/or ovarian cancer
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
BRCA2-related disorder

Reviewed By Expert Panel

CA024727

rs_786204280

11 SubmittersRCV000168595 RCV000258461 RCV000582155 RCV001213985 RCV002264916 RCV004732734

NM_000059.4(BRCA2):c.8007A>G (p.Arg2669=)

SNV
Germline

Chr13:32363209

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
not specified
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
BRCA2-related disorder
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA025397

rs_143999963

12 SubmittersRCV000231287 RCV000590364 RCV000565818 RCV000662966 RCV001711340 RCV004535144 RCV005365099

NM_000059.4(BRCA2):c.9472A>G (p.Thr3158Ala)

SNV
Germline

Chr13:32394904

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA026172

rs_786204284

10 SubmittersRCV000572867 RCV000779966 RCV000980470 RCV001564816 RCV003995629

NM_007294.4(BRCA1):c.1598A>G (p.Asn533Ser)

SNV
Germline

Chr17:43093933

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA001061

rs_786204263

2 SubmittersRCV001227665 RCV003157437

NM_000059.4(BRCA2):c.10102T>C (p.Ser3368Pro)

SNV
Germline

Chr13:32398615

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
BRCA2-related disorder

Criteria Provided
Conflicting Classifications

CA010245

rs_786205482

11 SubmittersRCV000171217 RCV000726705 RCV001016988 RCV001372516 RCV003316073 RCV004732736

NM_000059.4(BRCA2):c.8087T>G (p.Leu2696Trp)

SNV
Germline

Chr13:32363289

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA025448

rs_80359050

4 SubmittersRCV000172807 RCV000218050 RCV001059028 RCV004804784

NM_000059.4(BRCA2):c.1039C>A (p.Gln347Lys)

SNV
Germline

Chr13:32332517

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA010623

rs_794726967

4 SubmittersRCV000173632 RCV001038733 RCV002390417

NM_000059.4(BRCA2):c.1909+11C>T

SNV
Germline

Chr13:32333398

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary breast ovarian cancer syndrome
not specified

Criteria Provided
Conflicting Classifications

CA013814

rs_794726968

3 SubmittersRCV000173636 RCV002517665 RCV005237644

NM_000059.4(BRCA2):c.1909+9G>T

SNV
Germline

Chr13:32333396

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA013869

rs_794726969

3 SubmittersRCV000173637 RCV002281997 RCV002516595

NM_007294.4(BRCA1):c.2980T>C (p.Cys994Arg)

SNV
Germline

Chr17:43092551

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified
Fanconi anemia, complementation group S
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA001938

rs_144853230

7 SubmittersRCV000173832 RCV000556672 RCV001017761 RCV001328426 RCV005361065 RCV005620912

NM_007294.4(BRCA1):c.1880T>G (p.Val627Gly)

SNV
Germline

Chr17:43093651

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary breast ovarian cancer syndrome
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA001221

rs_770002293

4 SubmittersRCV000173842 RCV001236105 RCV002250586 RCV003157439

NM_000059.4(BRCA2):c.3451A>C (p.Ile1151Leu)

SNV
Germline

Chr13:32337806

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA018059

rs_80358591

4 SubmittersRCV000173971 RCV001327054 RCV003157440

NM_007294.4(BRCA1):c.4384G>A (p.Glu1462Lys)

SNV
Germline

Chr17:43076588

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Familial cancer of breast
Fanconi anemia, complementation group S
Pancreatic cancer, susceptibility to, 4

Criteria Provided
Conflicting Classifications

CA002811

rs_141255461

5 SubmittersRCV000174571 RCV000637603 RCV000774943 RCV002492736

NM_000059.4(BRCA2):c.425G>A (p.Ser142Asn)

SNV
Germline

Chr13:32325184

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA019818

rs_397507713

9 SubmittersRCV000258256 RCV000509645 RCV000548158 RCV000727660 RCV003474932

NM_000082.4(ERCC8):c.839C>A (p.Thr280Lys)

SNV
Germline

Chr5:60898280

Conflicting classifications of pathogenicity

not specified
Cockayne syndrome type 1
Condition: not provided
Hereditary breast ovarian cancer syndrome
ERCC8-related disorder

Criteria Provided
Conflicting Classifications

CA247938

rs_61754098

8 SubmittersRCV000180462 RCV000332330 RCV000584926 RCV001374546 RCV003917681

NM_000051.4(ATM):c.2413C>T (p.Arg805Ter)

SNV
Germline/somatic

Chr11:108259022

Pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Ataxia-telangiectasia syndrome
Hereditary breast ovarian cancer syndrome
Familial cancer of breast
Breast and/or ovarian cancer
Malignant tumor of urinary bladder
ATM-related cancer predisposition

Reviewed By Expert Panel

CA338870

rs_780619951

21 SubmittersRCV000199790 RCV000221009 RCV000489745 RCV000762818 RCV001030523 RCV003468893 RCV003491940 RCV003332139 RCV005361138

NM_001370259.2(MEN1):c.1354C>T (p.Arg452Trp)

SNV
Germline

Chr11:64804813

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA339343

rs_863224810

8 SubmittersRCV000200502 RCV000491768 RCV003736637 RCV004689673

NM_000059.4(BRCA2):c.1A>G (p.Met1Val)

SNV
Germline

Chr13:32316461

Pathogenic

Hereditary breast ovarian cancer syndrome

Criteria Provided
Single Submitter

CA335967

rs_863224464

1 SubmittersRCV000195819

NM_000059.4(BRCA2):c.2287C>G (p.His763Asp)

SNV
Germline

Chr13:32336642

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
Malignant tumor of breast
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA339089

rs_863224585

10 SubmittersRCV000200091 RCV000496468 RCV000563152 RCV000985474 RCV001358320 RCV003996985

NM_000059.4(BRCA2):c.2671G>C (p.Val891Leu)

SNV
Germline

Chr13:32337026

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Malignant tumor of pancreas
Condition: not provided
Familial cancer of breast
BRCA2-related cancer predisposition
not specified

Criteria Provided
Conflicting Classifications

CA337799

rs_756951335

9 SubmittersRCV000198310 RCV000575746 RCV000677822 RCV001567191 RCV002250593 RCV004804831 RCV006273623

NM_000059.4(BRCA2):c.2821G>A (p.Val941Met)

SNV
Germline

Chr13:32337176

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA338696

rs_863224586

5 SubmittersRCV000199529 RCV001182032 RCV003996987

NM_000059.4(BRCA2):c.3188A>T (p.Gln1063Leu)

SNV
Germline

Chr13:32337543

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA339239

rs_775030825

2 SubmittersRCV000200320 RCV003157441

NM_000059.4(BRCA2):c.3994C>T (p.His1332Tyr)

SNV
Germline

Chr13:32338349

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified

Criteria Provided
Conflicting Classifications

CA336760

rs_863224588

6 SubmittersRCV000196863 RCV001176096 RCV004701254

NM_000059.4(BRCA2):c.4704G>T (p.Lys1568Asn)

SNV
Germline

Chr13:32339059

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA336882

rs_863224589

3 SubmittersRCV000196983 RCV002336541

NM_000059.4(BRCA2):c.4991T>C (p.Ile1664Thr)

SNV
Germline

Chr13:32339346

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group D1
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA338267

rs_863224590

5 SubmittersRCV000198889 RCV000571680 RCV001334182 RCV003996988

NM_000059.4(BRCA2):c.5527G>A (p.Ala1843Thr)

SNV
Germline

Chr13:32339882

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA337669

rs_863224594

3 SubmittersRCV000198130 RCV003157442

NM_000059.4(BRCA2):c.5840C>T (p.Pro1947Leu)

SNV
Germline

Chr13:32340195

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA336367

rs_863224595

3 SubmittersRCV000196364 RCV003157443 RCV003996989

NM_000059.4(BRCA2):c.6022A>T (p.Lys2008Ter)

SNV
Germline

Chr13:32340377

Pathogenic

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Reviewed By Expert Panel

CA335857

rs_863224467

2 SubmittersRCV000195698 RCV000241423

NM_000059.4(BRCA2):c.6842-14A>T

SNV
Germline

Chr13:32344544

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA337311

rs_81002821

6 SubmittersRCV000197555 RCV000579742 RCV001539076 RCV001194061 RCV003996948

NM_000059.4(BRCA2):c.6916G>A (p.Ala2306Thr)

SNV
Germline

Chr13:32344632

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA337848

rs_730881550

7 SubmittersRCV000198357 RCV000566440 RCV000588806 RCV003996990

NM_000059.4(BRCA2):c.7095T>A (p.His2365Gln)

SNV
Germline

Chr13:32354948

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast and/or ovarian cancer
not specified
Condition: not provided
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 2
BRCA2-related disorder
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA339258

rs_370708814

13 SubmittersRCV000200353 RCV000222104 RCV000768606 RCV001193840 RCV001565170 RCV003462319 RCV003996991 RCV004530188 RCV005361143

NM_000059.4(BRCA2):c.7478T>C (p.Met2493Thr)

SNV
Germline

Chr13:32356470

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA336705

rs_863224597

2 SubmittersRCV000196776 RCV004948210

NM_000059.4(BRCA2):c.7682A>G (p.Gln2561Arg)

SNV
Germline

Chr13:32357806

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Familial cancer of breast
not specified

Criteria Provided
Conflicting Classifications

CA336029

rs_55647716

10 SubmittersRCV000195904 RCV000217467 RCV000412336 RCV000590423 RCV003462320 RCV006456829

NM_000059.4(BRCA2):c.7872T>G (p.Tyr2624Ter)

SNV
Germline

Chr13:32362589

Pathogenic

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Inherited breast cancer and ovarian cancer
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA339124

rs_863224468

6 SubmittersRCV000200163 RCV000241341 RCV003456376 RCV006250170 RCV006362148

NM_000059.4(BRCA2):c.7916C>T (p.Pro2639Leu)

SNV
Germline

Chr13:32362633

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
not specified
Condition: not provided
Malignant tumor of breast

Criteria Provided
Conflicting Classifications

CA338873

rs_774723315

10 SubmittersRCV000199791 RCV000213138 RCV000239039 RCV000499513 RCV000679188 RCV001353687

NM_000059.4(BRCA2):c.8143A>T (p.Lys2715Ter)

SNV
Germline

Chr13:32363345

Pathogenic

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided

Reviewed By Expert Panel

CA339029

rs_863224469

6 SubmittersRCV000199997 RCV000221489 RCV000238968 RCV001283941

NM_000059.4(BRCA2):c.8420C>A (p.Ser2807Ter)

SNV
Germline

Chr13:32370490

Pathogenic

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA336160

rs_55763607

3 SubmittersRCV000196106 RCV000241130 RCV000569423

NM_000059.4(BRCA2):c.9302T>C (p.Leu3101Pro)

SNV
Germline

Chr13:32394734

Likely pathogenic

Hereditary breast ovarian cancer syndrome
not specified
Condition: not provided
Hereditary cancer-predisposing syndrome
BRCA2-related cancer predisposition

Reviewed By Expert Panel

CA337754

rs_28897758

6 SubmittersRCV000198262 RCV001193200 RCV001589076 RCV002372186 RCV005628801

NM_000059.4(BRCA2):c.9501+6G>T

SNV
Germline

Chr13:32394939

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA339586

rs_863224600

3 SubmittersRCV000200853 RCV000773161 RCV001705158

NM_000059.4(BRCA2):c.9551T>C (p.Leu3184Pro)

SNV
Germline

Chr13:32396947

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA337063

rs_863224601

3 SubmittersRCV000197260 RCV000561685

NM_000059.4(BRCA2):c.10043A>G (p.Asn3348Ser)

SNV
Germline

Chr13:32398556

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA336150

rs_761094613

2 SubmittersRCV000196085 RCV003278696

NM_000059.4(BRCA2):c.10160C>G (p.Thr3387Ser)

SNV
Germline

Chr13:32398673

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
not specified

Criteria Provided
Conflicting Classifications

CA337034

rs_863224584

6 SubmittersRCV000197203 RCV000222578 RCV000662771 RCV000613680

NM_007294.4(BRCA1):c.5309G>C (p.Gly1770Ala)

SNV
Germline

Chr17:43051086

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA338563

rs_863224765

7 SubmittersRCV000199320 RCV001023894 RCV001076781

NM_007294.4(BRCA1):c.5269G>C (p.Asp1757His)

SNV
Germline

Chr17:43057060

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA337215

rs_863224764

4 SubmittersRCV000197445 RCV001072597 RCV001190128

NM_007294.4(BRCA1):c.5107T>C (p.Tyr1703His)

SNV
Germline

Chr17:43063919

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA337043

rs_863224763

3 SubmittersRCV000197224 RCV001078063 RCV003584563

NM_007294.4(BRCA1):c.5036T>C (p.Leu1679Pro)

SNV
Germline

Chr17:43067646

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA053724

rs_760038328

9 SubmittersRCV000200826 RCV001076271 RCV001023450 RCV002478710

NM_007294.4(BRCA1):c.4485-10A>G

SNV
Germline

Chr17:43074531

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 1
Familial cancer of breast
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 1
Fanconi anemia, complementation group S
BRCA1-related disorder

Criteria Provided
Conflicting Classifications

CA337423

rs_863224420

13 SubmittersRCV000197772 RCV000579627 RCV000599872 RCV000758831 RCV000989881 RCV001090204 RCV005361137 RCV004554747

NM_007294.4(BRCA1):c.4474G>T (p.Gly1492Ter)

SNV
Germline

Chr17:43076498

Pathogenic

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1

Reviewed By Expert Panel

CA337710

rs_863224511

2 SubmittersRCV000198178 RCV000241009

NM_007294.4(BRCA1):c.4315C>T (p.Leu1439Phe)

SNV
Germline

Chr17:43082446

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified
Breast-ovarian cancer, familial, susceptibility to, 1
BRCA1-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA059903

rs_781260818

6 SubmittersRCV000197844 RCV000221961 RCV000439478 RCV003493491 RCV004804833

NM_007294.4(BRCA1):c.3707A>G (p.Asn1236Ser)

SNV
Germline

Chr17:43091824

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
not specified
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA338320

rs_863224760

5 SubmittersRCV000198979 RCV000424940 RCV000510050 RCV001358174

NM_007294.4(BRCA1):c.3700G>C (p.Val1234Leu)

SNV
Germline

Chr17:43091831

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
not specified
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA337426

rs_763354142

8 SubmittersRCV000197777 RCV000410498 RCV000508617 RCV000509979 RCV003114360

NM_007294.4(BRCA1):c.3496G>C (p.Ala1166Pro)

SNV
Germline

Chr17:43092035

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA057832

rs_745418679

5 SubmittersRCV000200382 RCV001770150 RCV003157445

NM_007294.4(BRCA1):c.3356C>G (p.Thr1119Ser)

SNV
Germline

Chr17:43092175

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast cancer, susceptibility to
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA337866

rs_863224759

4 SubmittersRCV000198369 RCV000656462 RCV001020072

NM_007294.4(BRCA1):c.3092T>G (p.Ile1031Ser)

SNV
Germline

Chr17:43092439

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast and/or ovarian cancer
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA336467

rs_863224758

6 SubmittersRCV000196493 RCV000510033 RCV000735487 RCV000989892

NM_007294.4(BRCA1):c.2933A>G (p.Tyr978Cys)

SNV
Germline

Chr17:43092598

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA339108

rs_863224756

7 SubmittersRCV000200109 RCV000771319 RCV000780984 RCV001127942

NM_007294.4(BRCA1):c.2750T>G (p.Ile917Ser)

SNV
Germline

Chr17:43092781

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA336403

rs_587781492

2 SubmittersRCV000196429 RCV003157444

NM_007294.4(BRCA1):c.2554C>G (p.Leu852Val)

SNV
Germline

Chr17:43092977

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA337653

rs_863224754

4 SubmittersRCV000198115 RCV000487931 RCV001015913

NM_007294.4(BRCA1):c.1837A>G (p.Arg613Gly)

SNV
Germline

Chr17:43093694

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
BRCA1-related disorder

Criteria Provided
Conflicting Classifications

CA336046

rs_863224753

9 SubmittersRCV000220811 RCV000484390 RCV001087756 RCV002466464 RCV004554749

NM_007294.4(BRCA1):c.1134C>A (p.Ser378Arg)

SNV
Germline

Chr17:43094397

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 1
BRCA1-related cancer predisposition
not specified

Criteria Provided
Conflicting Classifications

CA336914

rs_863224752

10 SubmittersRCV000197019 RCV000221820 RCV000486943 RCV000662726 RCV004804832 RCV005237708

NM_007294.4(BRCA1):c.941C>T (p.Ala314Val)

SNV
Germline

Chr17:43094590

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA335896

rs_863224766

3 SubmittersRCV000195725 RCV001019329

NM_058216.3(RAD51C):c.571+5G>A

SNV
Germline

Chr17:58696864

Conflicting classifications of pathogenicity

Fanconi anemia complementation group O
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 3
Fanconi anemia complementation group O
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 3
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA335708

rs_145779113

13 SubmittersRCV000195473 RCV000561973 RCV004796095 RCV004998416 RCV005246780 RCV005638461

NM_058216.3(RAD51C):c.905-2A>C

SNV
Germline

Chr17:58724038

Pathogenic/Likely pathogenic

Fanconi anemia complementation group O
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Gastric cancer
Breast-ovarian cancer, familial, susceptibility to, 3
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA338869

rs_779582317

10 SubmittersRCV000199789 RCV000570941 RCV001194258 RCV003165464 RCV003468897 RCV003441777

NM_032043.3(BRIP1):c.1343G>A (p.Trp448Ter)

SNV
Germline

Chr17:61793727

Pathogenic/Likely pathogenic

Familial cancer of breast
Fanconi anemia complementation group J
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Familial cancer of breast
Condition: not provided
Fanconi anemia complementation group J
Melanoma
Familial ovarian cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA338228

rs_775171520

10 SubmittersRCV000198848 RCV000449028 RCV000586228 RCV003335194 RCV003477666 RCV005222825 RCV005893588 RCV005600807

NM_007194.4(CHEK2):c.1260-8A>G

SNV
Germline

Chr22:28695250

Conflicting classifications of pathogenicity

Familial cancer of breast
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA336126

rs_863224747

11 SubmittersRCV000196032 RCV000481621 RCV000582062 RCV003483572

NM_001018115.3(FANCD2):c.2022-5C>T

SNV
Germline

Chr3:10064724

Conflicting classifications of pathogenicity

not specified
Fanconi anemia complementation group D2
Condition: not provided
Fanconi anemia complementation group A
Fanconi anemia
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA249053

rs_4019784

14 SubmittersRCV000202851 RCV000368728 RCV000860369 RCV000987102 RCV001434411 RCV002225505

NM_005732.4(RAD50):c.1831A>G (p.Ile611Val)

SNV
Germline

Chr5:132594906

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA348123

rs_138315079

4 SubmittersRCV000203829 RCV001030504 RCV004998425

NM_000051.4(ATM):c.2879C>A (p.Pro960His)

SNV
Germline

Chr11:108271104

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified

Criteria Provided
Conflicting Classifications

CA350856

rs_587779828

7 SubmittersRCV000206872 RCV000217962 RCV001030526 RCV001174579

NM_000051.4(ATM):c.8393C>A (p.Ala2798Asp)

SNV
Germline

Chr11:108343346

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Hereditary breast ovarian cancer syndrome
not specified

Criteria Provided
Conflicting Classifications

CA348832

rs_772992098

12 SubmittersRCV000204614 RCV000218858 RCV000484197 RCV003468957 RCV003483574 RCV004526643

NM_000059.4(BRCA2):c.632-3C>G

SNV
Germline

Chr13:32329440

Likely pathogenic

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Familial cancer of breast
BRCA2-related cancer predisposition

Reviewed By Expert Panel

CA348611

rs_568027879

11 SubmittersRCV000204368 RCV000220060 RCV000238832 RCV000766853 RCV003474980 RCV004567458

NM_000059.4(BRCA2):c.1291A>C (p.Thr431Pro)

SNV
Germline

Chr13:32332769

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA349130

rs_864622399

3 SubmittersRCV000204938 RCV001010792

NM_000059.4(BRCA2):c.1441A>G (p.Ile481Val)

SNV
Germline

Chr13:32332919

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2
Malignant tumor of breast
not specified

Criteria Provided
Conflicting Classifications

CA349336

rs_760559435

11 SubmittersRCV000205133 RCV000566955 RCV000759574 RCV000663047 RCV001358420 RCV002247629

NM_000059.4(BRCA2):c.1462A>C (p.Ile488Leu)

SNV
Germline

Chr13:32332940

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA350401

rs_864622352

5 SubmittersRCV000206357 RCV001358466 RCV003157451

NM_000059.4(BRCA2):c.1561T>C (p.Ser521Pro)

SNV
Germline

Chr13:32333039

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA348820

rs_864622689

4 SubmittersRCV000204596 RCV001191188

NM_000059.4(BRCA2):c.1780A>T (p.Ile594Leu)

SNV
Germline

Chr13:32333258

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA348739

rs_431825287

6 SubmittersRCV000204513 RCV000772141 RCV001706189 RCV002285279

NM_000059.4(BRCA2):c.1996A>G (p.Ile666Val)

SNV
Germline

Chr13:32336351

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA348838

rs_864622172

4 SubmittersRCV000204625 RCV003157448 RCV003483573

NM_000059.4(BRCA2):c.2596G>C (p.Glu866Gln)

SNV
Germline

Chr13:32336951

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA348942

rs_864622476

4 SubmittersRCV000204729 RCV001015897 RCV003477693

NM_000059.4(BRCA2):c.3188A>G (p.Gln1063Arg)

SNV
Germline

Chr13:32337543

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Malignant tumor of breast
Condition: not provided
Hereditary cancer-predisposing syndrome
not specified
Breast-ovarian cancer, familial, susceptibility to, 2
BRCA2-related disorder

Criteria Provided
Conflicting Classifications

CA350658

rs_775030825

9 SubmittersRCV000206648 RCV000501582 RCV000586508 RCV000571902 RCV001804171 RCV003997601 RCV004541289

NM_000059.4(BRCA2):c.3191C>G (p.Ser1064Ter)

SNV
Germline

Chr13:32337546

Pathogenic

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Reviewed By Expert Panel

CA348662

rs_864622609

2 SubmittersRCV000204433 RCV000241250

NM_000059.4(BRCA2):c.3329A>C (p.Glu1110Ala)

SNV
Germline

Chr13:32337684

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA348369

rs_587782072

8 SubmittersRCV000204123 RCV000570799 RCV000587928

NM_000059.4(BRCA2):c.3540G>C (p.Lys1180Asn)

SNV
Germline

Chr13:32337895

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Breast and/or ovarian cancer
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 2
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA350624

rs_864622363

10 SubmittersRCV000206612 RCV000220199 RCV001560226 RCV002250596 RCV003491953 RCV005361180 RCV005600815

NM_000059.4(BRCA2):c.4114T>A (p.Phe1372Ile)

SNV
Germline

Chr13:32338469

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA348262

rs_864622169

2 SubmittersRCV000203980 RCV003157447

NM_000059.4(BRCA2):c.4120A>G (p.Lys1374Glu)

SNV
Germline

Chr13:32338475

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
not specified

Criteria Provided
Conflicting Classifications

CA349211

rs_864622126

6 SubmittersRCV000205046 RCV000482300 RCV001021908 RCV003479058

NM_000059.4(BRCA2):c.4445A>G (p.Glu1482Gly)

SNV
Germline

Chr13:32338800

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA350844

rs_775234705

4 SubmittersRCV000206849 RCV001022493

NM_000059.4(BRCA2):c.4527A>C (p.Gln1509His)

SNV
Germline

Chr13:32338882

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA348344

rs_56283738

7 SubmittersRCV000204087 RCV000215274 RCV000487203 RCV001193890

NM_000059.4(BRCA2):c.4688G>T (p.Trp1563Leu)

SNV
Germline

Chr13:32339043

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA349099

rs_864622546

2 SubmittersRCV000204911 RCV003157455

NM_000059.4(BRCA2):c.4814T>C (p.Val1605Ala)

SNV
Germline

Chr13:32339169

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA349454

rs_864622426

2 SubmittersRCV000205282 RCV003157453

NM_000059.4(BRCA2):c.4865G>C (p.Arg1622Thr)

SNV
Germline

Chr13:32339220

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA350255

rs_864622427

2 SubmittersRCV000206190 RCV003157454

NM_000059.4(BRCA2):c.5016C>G (p.Tyr1672Ter)

SNV
Germline

Chr13:32339371

Pathogenic

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA348640

rs_864622073

6 SubmittersRCV000204412 RCV000241039 RCV000569880

NM_000059.4(BRCA2):c.5030G>T (p.Arg1677Ile)

SNV
Germline

Chr13:32339385

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA348192

rs_375304428

5 SubmittersRCV000203901 RCV001800530 RCV002336562

NM_000059.4(BRCA2):c.5396C>T (p.Ala1799Val)

SNV
Germline

Chr13:32339751

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA350134

rs_770450108

7 SubmittersRCV000206075 RCV000222205 RCV000759625 RCV003997606

NM_000059.4(BRCA2):c.5733T>G (p.Asp1911Glu)

SNV
Germline

Chr13:32340088

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified
Breast-ovarian cancer, familial, susceptibility to, 2
BRCA2-related disorder

Criteria Provided
Conflicting Classifications

CA348336

rs_367823201

8 SubmittersRCV000204074 RCV000573621 RCV002247636 RCV003997635 RCV004725063

NM_000059.4(BRCA2):c.5932T>G (p.Phe1978Val)

SNV
Germline

Chr13:32340287

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA348922

rs_864622526

4 SubmittersRCV000204715 RCV001799633 RCV002354580

NM_000059.4(BRCA2):c.6011A>G (p.Glu2004Gly)

SNV
Germline

Chr13:32340366

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA350195

rs_864622336

2 SubmittersRCV000206127 RCV003157450

NM_000059.4(BRCA2):c.6111A>T (p.Glu2037Asp)

SNV
Germline

Chr13:32340466

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA349480

rs_864622740

4 SubmittersRCV000205321 RCV000580083

NM_000059.4(BRCA2):c.6236T>A (p.Val2079Glu)

SNV
Germline

Chr13:32340591

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA350080

rs_864622757

3 SubmittersRCV000206004 RCV002363036

NM_000059.4(BRCA2):c.6254T>G (p.Leu2085Ter)

SNV
Germline

Chr13:32340609

Pathogenic

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA348847

rs_864622082

3 SubmittersRCV000204636 RCV000241368 RCV001184328

NM_000059.4(BRCA2):c.6638C>T (p.Ser2213Phe)

SNV
Germline

Chr13:32340993

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA348036

rs_75925841

7 SubmittersRCV000203740 RCV000216639 RCV000482325 RCV000780020 RCV002250595

NM_000059.4(BRCA2):c.7540A>G (p.Lys2514Glu)

SNV
Germline

Chr13:32356532

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA348259

rs_864622624

10 SubmittersRCV000203975 RCV000222575 RCV000656621 RCV001192684 RCV003462386 RCV003493505

NM_000059.4(BRCA2):c.7618-10T>G

SNV
Germline

Chr13:32357732

Likely pathogenic

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
BRCA2-related cancer predisposition

Criteria Provided
Multiple Submitters
No Conflicts

CA350161

rs_864622573

4 SubmittersRCV000206097 RCV000989067 RCV003343703 RCV005862511

NM_000059.4(BRCA2):c.7874G>A (p.Arg2625Lys)

SNV
Germline

Chr13:32362591

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
not specified
Breast-ovarian cancer, familial, susceptibility to, 2
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA348618

rs_864622552

9 SubmittersRCV000204378 RCV000483772 RCV000509944 RCV000779999 RCV001257500 RCV003474984

NM_000059.4(BRCA2):c.8569G>C (p.Ala2857Pro)

SNV
Germline

Chr13:32371037

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA350121

rs_730881565

3 SubmittersRCV000206063 RCV002444830 RCV004804847

NM_000059.4(BRCA2):c.8646A>T (p.Lys2882Asn)

SNV
Germline

Chr13:32376683

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA348983

rs_864622658

2 SubmittersRCV000204787 RCV004601130

NM_000059.4(BRCA2):c.8754+4A>T

SNV
Germline

Chr13:32376795

Pathogenic/Likely pathogenic

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA348420

rs_81002893

6 SubmittersRCV000204178 RCV000410920 RCV000572423 RCV003474982

NM_000059.4(BRCA2):c.8987T>A (p.Leu2996Ter)

SNV
Germline

Chr13:32379783

Pathogenic

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 2
Pancreatic cancer, susceptibility to, 2

Reviewed By Expert Panel

CA348592

rs_864622200

7 SubmittersRCV000204346 RCV000241094 RCV001269609 RCV001525608 RCV005625444

NM_000059.4(BRCA2):c.9027T>G (p.Tyr3009Ter)

SNV
Germline

Chr13:32379823

Pathogenic

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA349539

rs_864622568

3 SubmittersRCV000205381 RCV000240965 RCV004020533

NM_000059.4(BRCA2):c.9096A>C (p.Lys3032Asn)

SNV
Germline

Chr13:32379892

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast and/or ovarian cancer
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA348978

rs_864622582

6 SubmittersRCV000204782 RCV000236934 RCV001170979 RCV002372203 RCV004567474

NM_000059.4(BRCA2):c.9365C>T (p.Ala3122Val)

SNV
Germline

Chr13:32394797

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
not specified
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA349533

rs_571971903

6 SubmittersRCV000205376 RCV000484126 RCV000570908 RCV002282040 RCV004804846

NM_000059.4(BRCA2):c.10171A>G (p.Ile3391Val)

SNV
Germline

Chr13:32398684

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
not specified
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA350207

rs_778147500

4 SubmittersRCV000206136 RCV000442780 RCV000773224

NM_024675.4(PALB2):c.3331C>G (p.Pro1111Ala)

SNV
Germline

Chr16:23607883

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Familial cancer of breast
Fanconi anemia complementation group N
Pancreatic cancer, susceptibility to, 3
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA350039

rs_864622193

10 SubmittersRCV000205952 RCV000222857 RCV000587389 RCV001800527 RCV002478727 RCV004764779

NM_007294.4(BRCA1):c.*58C>T

SNV
Germline

Chr17:43045620

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Fanconi anemia, complementation group S

Criteria Provided
Conflicting Classifications

CA056475

rs_137892861

6 SubmittersRCV000204618 RCV000989862 RCV002508198 RCV005361198

NM_007294.4(BRCA1):c.5372T>C (p.Val1791Ala)

SNV
Germline

Chr17:43049155

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA350379

rs_864622244

6 SubmittersRCV000206333 RCV001076848 RCV002258829

NM_007294.4(BRCA1):c.5225A>G (p.Asn1742Ser)

SNV
Germline

Chr17:43057104

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA348708

rs_864622104

6 SubmittersRCV000204481 RCV000222081 RCV000487539

NM_007294.4(BRCA1):c.5152+5G>C

SNV
Germline

Chr17:43063869

Pathogenic/Likely pathogenic

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA348506

rs_80358165

4 SubmittersRCV000204262 RCV001076461 RCV005781937

NM_007294.4(BRCA1):c.3931A>G (p.Asn1311Asp)

SNV
Germline

Chr17:43091600

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
BRCA1-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA348350

rs_864622233

4 SubmittersRCV000204095 RCV003157449 RCV004804838

NM_007294.4(BRCA1):c.3929C>G (p.Thr1310Arg)

SNV
Germline

Chr17:43091602

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA349065

rs_80357257

3 SubmittersRCV000204872 RCV003157452

NM_007294.4(BRCA1):c.2841A>T (p.Lys947Asn)

SNV
Germline

Chr17:43092690

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA348171

rs_864622618

3 SubmittersRCV000203872 RCV000223008

NM_007294.4(BRCA1):c.2791G>T (p.Val931Leu)

SNV
Germline

Chr17:43092740

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
not specified
Breast and/or ovarian cancer

Criteria Provided
Conflicting Classifications

CA058319

rs_763639161

7 SubmittersRCV000206628 RCV000255742 RCV000575467 RCV000779872 RCV001798678

NM_007294.4(BRCA1):c.2747A>T (p.Asn916Ile)

SNV
Germline

Chr17:43092784

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA349629

rs_864622588

6 SubmittersRCV000205469 RCV000218038 RCV000409651 RCV001562678

NM_007294.4(BRCA1):c.2567A>G (p.Tyr856Cys)

SNV
Germline

Chr17:43092964

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
not specified
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA348738

rs_864622122

5 SubmittersRCV000204510 RCV001328453 RCV001355649 RCV003157446

NM_007294.4(BRCA1):c.1135A>G (p.Ile379Val)

SNV
Germline

Chr17:43094396

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA348689

rs_864622723

6 SubmittersRCV000204469 RCV000568268 RCV000779855 RCV003997666

NM_007294.4(BRCA1):c.441G>C (p.Leu147Phe)

SNV
Germline

Chr17:43104122

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
BRCA1-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA056114

rs_748876625

11 SubmittersRCV000204808 RCV000210978 RCV000221620 RCV000508689 RCV001753611 RCV004804841

NM_007294.4(BRCA1):c.382A>G (p.Met128Val)

SNV
Germline

Chr17:43104181

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
BRCA1-related cancer predisposition
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA349192

rs_864622124

5 SubmittersRCV000205024 RCV001021243 RCV004804834 RCV005420753

NM_007294.4(BRCA1):c.287A>G (p.Asp96Gly)

SNV
Germline

Chr17:43104882

Pathogenic/Likely pathogenic

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Breast-ovarian cancer, familial, susceptibility to, 1
Pancreatic cancer, susceptibility to, 4
Familial cancer of breast
Fanconi anemia, complementation group S

Criteria Provided
Multiple Submitters
No Conflicts

CA348195

rs_864622444

7 SubmittersRCV000203904 RCV001180532 RCV001077807 RCV002500651

NM_007294.4(BRCA1):c.107C>A (p.Ser36Tyr)

SNV
Germline

Chr17:43115753

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 1
not specified
BRCA1-related cancer predisposition
Fanconi anemia, complementation group S

Criteria Provided
Conflicting Classifications

CA052433

rs_183557525

13 SubmittersRCV000204917 RCV000563749 RCV000587859 RCV000989916 RCV003389638 RCV004804837 RCV005361173

NM_007194.4(CHEK2):c.792+2T>C

SNV
Germline

Chr22:28711907

Likely pathogenic

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA349341

rs_545982789

6 SubmittersRCV000205137 RCV000570644 RCV005251093

NM_000051.4(ATM):c.1924G>T (p.Glu642Ter)

SNV
Germline

Chr11:108253839

Likely pathogenic

Hereditary breast ovarian cancer syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Single Submitter

CA16044128

rs_1057519364

2 SubmittersRCV000416923 RCV005042452

NM_000051.4(ATM):c.6198+1G>A

SNV
Germline

Chr11:108316114

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Ataxia-telangiectasia syndrome
Abnormal central motor function
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA6265875

rs_778031266

12 SubmittersRCV000222023 RCV000416815 RCV000519640 RCV000668415 RCV001814117 RCV003468967

NM_133510.4(RAD51B):c.84G>A (p.Gln28=)

SNV
Germline

Chr14:67823627

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA7240931

rs_764896402

5 SubmittersRCV000416925 RCV000708628 RCV005230089 RCV005470390

NM_000051.4(ATM):c.3747-1G>A

SNV
Germline

Chr11:108284226

Pathogenic/Likely pathogenic

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Ataxia-telangiectasia syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA16044129

rs_730881364

4 SubmittersRCV000416611 RCV002345744 RCV004020550 RCV005090037

NM_024675.4(PALB2):c.1042C>T (p.Gln348Ter)

SNV
Germline

Chr16:23635504

Pathogenic

Condition: not provided
Familial cancer of breast
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Malignant tumor of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA10575850

rs_375699023

10 SubmittersRCV000255651 RCV000409735 RCV000416712 RCV000568484 RCV001358472

NM_000059.4(BRCA2):c.67+1G>C

SNV
Germline

Chr13:32316528

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Breast neoplasm
Condition: not provided
Hereditary breast ovarian cancer syndrome
Inherited breast cancer and ovarian cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA10575902

rs_81002796

7 SubmittersRCV000217482 RCV000239221 RCV000240786 RCV001818507 RCV001853355 RCV005237729

NM_000059.4(BRCA2):c.454A>G (p.Thr152Ala)

SNV
Germline

Chr13:32326129

Conflicting classifications of pathogenicity

Breast neoplasm
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA10575905

rs_886037806

7 SubmittersRCV000240793 RCV000637659 RCV000777928 RCV003156232 RCV003607256 RCV004804852

NM_000059.4(BRCA2):c.1211A>G (p.Asn404Ser)

SNV
Germline

Chr13:32332689

Conflicting classifications of pathogenicity

Breast neoplasm
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2
BRCA2-related disorder

Criteria Provided
Conflicting Classifications

CA10575907

rs_80358414

9 SubmittersRCV000240794 RCV000472702 RCV000571012 RCV000586358 RCV000988998 RCV004530255

NM_000059.4(BRCA2):c.1462A>G (p.Ile488Val)

SNV
Germline

Chr13:32332940

Conflicting classifications of pathogenicity

Breast neoplasm
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
not specified

Criteria Provided
Conflicting Classifications

CA10575908

rs_864622352

7 SubmittersRCV000240763 RCV000572755 RCV001239569 RCV003444220 RCV006456848

NM_000059.4(BRCA2):c.1511C>G (p.Ser504Cys)

SNV
Germline

Chr13:32332989

Conflicting classifications of pathogenicity

Breast neoplasm
Condition: not provided
not specified
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10575909

rs_886037807

7 SubmittersRCV000240730 RCV000486878 RCV001193362 RCV002390563 RCV003644931

NM_000059.4(BRCA2):c.1591A>G (p.Lys531Glu)

SNV
Germline

Chr13:32333069

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Breast neoplasm
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10575910

rs_876659050

5 SubmittersRCV000221304 RCV000240715 RCV000815686

NM_000059.4(BRCA2):c.3475T>G (p.Cys1159Gly)

SNV
Germline

Chr13:32337830

Conflicting classifications of pathogenicity

Breast neoplasm
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10575916

rs_886037814

3 SubmittersRCV000240718 RCV000537173 RCV003157462

NM_000059.4(BRCA2):c.4548C>G (p.Ile1516Met)

SNV
Germline

Chr13:32338903

Conflicting classifications of pathogenicity

Breast neoplasm
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10575920

rs_886037815

3 SubmittersRCV000240770 RCV001853357 RCV003157463

NM_000059.4(BRCA2):c.5206C>T (p.Gln1736Ter)

SNV
Germline/somatic

Chr13:32339561

Pathogenic

Breast neoplasm
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Malignant tumor of urinary bladder

Reviewed By Expert Panel

CA10575921

rs_886037802

6 SubmittersRCV000240691 RCV000546284 RCV000661397 RCV003332142

NM_000059.4(BRCA2):c.5487G>T (p.Leu1829Phe)

SNV
Germline

Chr13:32339842

Conflicting classifications of pathogenicity

Breast neoplasm
Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Familial cancer of breast
not specified
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA6940879

rs_779967765

11 SubmittersRCV000240748 RCV000456588 RCV000482177 RCV000574898 RCV001356089 RCV002250598 RCV002509304 RCV004804853

NM_000059.4(BRCA2):c.9318G>A (p.Trp3106Ter)

SNV
Germline

Chr13:32394750

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Breast neoplasm
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Reviewed By Expert Panel

CA10575935

rs_771203198

7 SubmittersRCV000256794 RCV000240700 RCV000526753 RCV001180870 RCV003221863

NM_007294.4(BRCA1):c.3071G>C (p.Ser1024Thr)

SNV
Germline/somatic

Chr17:43092460

Conflicting classifications of pathogenicity

Breast neoplasm
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10575947

rs_757579891

3 SubmittersRCV000240705 RCV001202270 RCV003157456

NM_007294.4(BRCA1):c.2268G>T (p.Arg756Ser)

SNV
Germline

Chr17:43093263

Conflicting classifications of pathogenicity

Breast neoplasm
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Familial cancer of breast
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA10575950

rs_80356884

9 SubmittersRCV000240783 RCV000777927 RCV001043803 RCV002250597 RCV001753632 RCV003997694

NM_007294.4(BRCA1):c.1819A>G (p.Lys607Glu)

SNV
Germline

Chr17:43093712

Conflicting classifications of pathogenicity

Breast neoplasm
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
BRCA1-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA057535

rs_80357220

7 SubmittersRCV000240791 RCV000580306 RCV003644930 RCV003316160 RCV004804850

NM_007294.4(BRCA1):c.213-2A>G

SNV
Germline

Chr17:43104958

Pathogenic

Breast neoplasm
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA10575954

rs_397508940

5 SubmittersRCV000240728 RCV000258171 RCV001853354 RCV004020571

NM_007294.4(BRCA1):c.192T>G (p.Cys64Trp)

SNV
Germline

Chr17:43106476

Pathogenic/Likely pathogenic

Breast neoplasm
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA10575955

rs_587781632

5 SubmittersRCV000240686 RCV000258255 RCV000687511

NM_007294.4(BRCA1):c.301+6T>C

SNV
Germline

Chr17:43104862

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
not specified
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 1
Pancreatic cancer, susceptibility to, 4
Fanconi anemia, complementation group S
Condition: not provided

Criteria Provided
Conflicting Classifications

CA055594

rs_753859240

13 SubmittersRCV000210142 RCV000234331 RCV000507484 RCV000584261 RCV002478759 RCV003159109

NM_000059.4(BRCA2):c.1159G>T (p.Val387Phe)

SNV
Germline

Chr13:32332637

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Familial cancer of breast
BRCA2-related disorder
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA10576061

rs_869320791

10 SubmittersRCV000211000 RCV000218227 RCV000462241 RCV001284070 RCV003607257 RCV004529015 RCV004804854

NM_000059.4(BRCA2):c.1355T>C (p.Leu452Pro)

SNV
Germline

Chr13:32332833

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6940510

rs_753512842

11 SubmittersRCV000211025 RCV000568425 RCV000637781 RCV000766590

NM_000059.4(BRCA2):c.2695A>G (p.Asn899Asp)

SNV
Germline

Chr13:32337050

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6940624

rs_564197624

5 SubmittersRCV000211046 RCV000219179 RCV000637584 RCV001284079

NM_000059.4(BRCA2):c.3437A>T (p.Glu1146Val)

SNV
Germline

Chr13:32337792

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA10576065

rs_80358588

7 SubmittersRCV000210959 RCV000568644 RCV001224564 RCV002247644 RCV004804855

NM_000059.4(BRCA2):c.4648G>C (p.Glu1550Gln)

SNV
Germline

Chr13:32339003

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
not specified
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA6940803

rs_80358695

6 SubmittersRCV000210981 RCV000496491 RCV001022836 RCV001321133

NM_000059.4(BRCA2):c.5777G>A (p.Ser1926Asn)

SNV
Germline

Chr13:32340132

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10576069

rs_869320795

7 SubmittersRCV000211032 RCV000570052 RCV000589776 RCV001230214

NM_000059.4(BRCA2):c.7618-19G>T

SNV
Germline

Chr13:32357723

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
not specified
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10576072

rs_371417084

4 SubmittersRCV000210995 RCV000605290 RCV001490270

NM_000059.4(BRCA2):c.9256+7C>T

SNV
Germline

Chr13:32380152

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
not specified
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10576078

rs_373697701

3 SubmittersRCV000211035 RCV000601290 RCV001402364

NM_007294.4(BRCA1):c.5202T>G (p.Phe1734Leu)

SNV
Germline

Chr17:43057127

Likely pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
BRCA1-related cancer predisposition

Reviewed By Expert Panel

CA10576081

rs_869320780

8 SubmittersRCV000211033 RCV000774931 RCV001368647 RCV006276083

NM_007294.4(BRCA1):c.1043G>A (p.Cys348Tyr)

SNV
Germline

Chr17:43094488

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10576088

rs_752198747

3 SubmittersRCV000211019 RCV003157464 RCV005090051

NM_000059.4(BRCA2):c.1832C>G (p.Ser611Ter)

SNV
Germline

Chr13:32333310

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided

Reviewed By Expert Panel

CA501226

rs_80358474

5 SubmittersRCV000257225 RCV000213224 RCV001310173 RCV002284378

NM_000059.4(BRCA2):c.3187C>T (p.Gln1063Ter)

SNV
Germline

Chr13:32337542

Pathogenic

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Reviewed By Expert Panel

CA10576940

rs_876657678

14 SubmittersRCV000218286 RCV000257793 RCV000486387 RCV001804949 RCV003474994

NM_000249.4(MLH1):c.307-2A>G

SNV
Germline

Chr3:37004399

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Colorectal cancer, hereditary nonpolyposis, type 2
Hereditary breast ovarian cancer syndrome
Inherited MMR deficiency (Lynch syndrome)

Criteria Provided
Multiple Submitters
No Conflicts

CA10577306

rs_267607732

6 SubmittersRCV000214340 RCV000567906 RCV001379076 RCV003454676 RCV004794378 RCV006277756

NM_002485.5(NBN):c.1398-10T>A

SNV
Germline

Chr8:89953701

Conflicting classifications of pathogenicity

Condition: not provided
Microcephaly, normal intelligence and immunodeficiency
Malignant tumor of breast
Hereditary breast ovarian cancer syndrome
not specified

Criteria Provided
Conflicting Classifications

CA4802732

rs_539960851

7 SubmittersRCV000214666 RCV000463346 RCV001355059 RCV002225524 RCV004701297

NM_000051.4(ATM):c.2377-6T>A

SNV
Germline

Chr11:108258980

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Hereditary breast ovarian cancer syndrome
not specified

Criteria Provided
Conflicting Classifications

CA10577426

rs_876660963

10 SubmittersRCV000468699 RCV000656757 RCV000771210 RCV002288903 RCV004689685 RCV005237759

NM_000059.4(BRCA2):c.425+2T>C

SNV
Germline

Chr13:32325186

Conflicting classifications of pathogenicity

Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA10577457

rs_876661045

7 SubmittersRCV000221962 RCV000663046 RCV000697192 RCV001022140 RCV003475043

NM_000059.4(BRCA2):c.595G>C (p.Ala199Pro)

SNV
Germline

Chr13:32326577

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA10577460

rs_376582345

7 SubmittersRCV000467809 RCV000566628 RCV000758913 RCV003323463 RCV003463622 RCV005420867

NM_000059.4(BRCA2):c.1106A>C (p.Asn369Thr)

SNV
Germline

Chr13:32332584

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA10577461

rs_876660966

6 SubmittersRCV000220013 RCV000566186 RCV000766602 RCV001854726 RCV003998612

NM_000059.4(BRCA2):c.1730C>T (p.Ala577Val)

SNV
Germline

Chr13:32333208

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary breast ovarian cancer syndrome
not specified
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10577462

rs_876661280

6 SubmittersRCV000215464 RCV001854761 RCV002247668 RCV003157471

NM_000059.4(BRCA2):c.2405A>G (p.Asn802Ser)

SNV
Germline

Chr13:32336760

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
8 conditions
Breast-ovarian cancer, familial, susceptibility to, 2
BRCA2-related disorder
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA10577465

rs_876661089

10 SubmittersRCV000222981 RCV000510101 RCV000547681 RCV000763883 RCV000989012 RCV001535798 RCV004804936

NM_000059.4(BRCA2):c.3629A>T (p.Asp1210Val)

SNV
Germline

Chr13:32337984

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA6940711

rs_397507311

5 SubmittersRCV000221295 RCV001854745 RCV002450647 RCV005620925

NM_000059.4(BRCA2):c.3762G>T (p.Glu1254Asp)

SNV
Germline

Chr13:32338117

Conflicting classifications of pathogenicity

not specified
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Malignant tumor of breast
Familial cancer of breast
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA6940723

rs_777028631

10 SubmittersRCV000219074 RCV000555263 RCV000574577 RCV001354936 RCV003607270 RCV004804934

NM_000059.4(BRCA2):c.3848T>C (p.Val1283Ala)

SNV
Germline

Chr13:32338203

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10577468

rs_80358628

4 SubmittersRCV000215042 RCV000509623 RCV001854737

NM_000059.4(BRCA2):c.4067T>C (p.Leu1356Ser)

SNV
Germline

Chr13:32338422

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10577469

rs_876660967

7 SubmittersRCV000558819 RCV000759612 RCV000771388

NM_000059.4(BRCA2):c.4237A>G (p.Lys1413Glu)

SNV
Germline

Chr13:32338592

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
BRCA2-related disorder

Criteria Provided
Conflicting Classifications

CA10577470

rs_876661198

9 SubmittersRCV000219793 RCV000567611 RCV000709310 RCV000989026 RCV004532817

NM_000059.4(BRCA2):c.4336A>G (p.Ile1446Val)

SNV
Germline

Chr13:32338691

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA10577471

rs_876661017

5 SubmittersRCV000222291 RCV000573581 RCV000800936 RCV003998614

NM_000059.4(BRCA2):c.4522G>C (p.Gly1508Arg)

SNV
Germline

Chr13:32338877

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10577472

rs_876661035

6 SubmittersRCV000220979 RCV000562611 RCV002516192

NM_000059.4(BRCA2):c.4651C>T (p.Gln1551Ter)

SNV
Germline

Chr13:32339006

Pathogenic

Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast
BRCA2-related cancer predisposition

Reviewed By Expert Panel

CA10577473

rs_876661062

8 SubmittersRCV000219028 RCV000661550 RCV000637577 RCV002338695 RCV003475044 RCV005361355

NM_000059.4(BRCA2):c.4661G>C (p.Ser1554Thr)

SNV
Germline

Chr13:32339016

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10577474

rs_876661225

4 SubmittersRCV000214343 RCV000823127 RCV003157469

NM_000059.4(BRCA2):c.4771T>A (p.Cys1591Ser)

SNV
Germline

Chr13:32339126

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10577475

rs_781130788

5 SubmittersRCV000215329 RCV000772046 RCV000697730

NM_000059.4(BRCA2):c.5014T>C (p.Tyr1672His)

SNV
Germline

Chr13:32339369

Conflicting classifications of pathogenicity

not specified
Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA6940840

rs_781671762

8 SubmittersRCV000222124 RCV000560184 RCV000586736 RCV001188182 RCV004804937

NM_000059.4(BRCA2):c.5134G>T (p.Gly1712Ter)

SNV
Germline

Chr13:32339489

Pathogenic

Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Reviewed By Expert Panel

CA10577476

rs_876661056

6 SubmittersRCV000220651 RCV000462700 RCV000566954 RCV000661386

NM_000059.4(BRCA2):c.5225A>T (p.Asn1742Ile)

SNV
Germline

Chr13:32339580

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome
Fanconi anemia complementation group D1
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 2
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA6940856

rs_756463217

14 SubmittersRCV000216156 RCV000325274 RCV000509611 RCV000780045 RCV003483582 RCV003607271 RCV003493535 RCV004804935

NM_000059.4(BRCA2):c.5711T>A (p.Leu1904His)

SNV
Germline

Chr13:32340066

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2
not specified

Criteria Provided
Conflicting Classifications

CA10577477

rs_876658494

10 SubmittersRCV000220859 RCV000232933 RCV000657071 RCV000663230 RCV005055756

NM_000059.4(BRCA2):c.6125A>T (p.Gln2042Leu)

SNV
Germline

Chr13:32340480

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10577478

rs_80358852

4 SubmittersRCV000222030 RCV001024916 RCV002516201

NM_000059.4(BRCA2):c.6304G>A (p.Val2102Ile)

SNV
Germline

Chr13:32340659

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Malignant tumor of breast
Breast-ovarian cancer, familial, susceptibility to, 2
not specified

Criteria Provided
Conflicting Classifications

CA6940943

rs_80358869

10 SubmittersRCV000564936 RCV000637345 RCV000766585 RCV001356587 RCV003234774 RCV003321556

NM_000059.4(BRCA2):c.6559C>T (p.Pro2187Ser)

SNV
Germline

Chr13:32340914

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
8 conditions

Criteria Provided
Conflicting Classifications

CA10577480

rs_868216475

6 SubmittersRCV000213792 RCV000773213 RCV000822558 RCV005008174

NM_000059.4(BRCA2):c.6523G>C (p.Glu2175Gln)

SNV
Germline

Chr13:32340878

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA10577481

rs_876658412

9 SubmittersRCV000214552 RCV000215499 RCV000684915 RCV001311840 RCV003997807

NM_000059.4(BRCA2):c.6988A>G (p.Ile2330Val)

SNV
Germline

Chr13:32346877

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
not specified
Malignant tumor of breast

Criteria Provided
Conflicting Classifications

CA10577486

rs_876661032

12 SubmittersRCV000477387 RCV000585970 RCV000776229 RCV000989057 RCV001260262 RCV001355885

NM_000059.4(BRCA2):c.7370T>G (p.Phe2457Cys)

SNV
Germline

Chr13:32355223

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10577489

rs_876661273

5 SubmittersRCV000219650 RCV000637636 RCV006362159

NM_000059.4(BRCA2):c.7479G>A (p.Met2493Ile)

SNV
Germline

Chr13:32356471

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10577491

rs_876661086

3 SubmittersRCV000690785 RCV002509325 RCV005305985

NM_000059.4(BRCA2):c.7547C>G (p.Ser2516Cys)

SNV
Germline

Chr13:32356539

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10577492

rs_571800995

4 SubmittersRCV000215461 RCV000220347 RCV000467439

NM_000059.4(BRCA2):c.8393C>G (p.Pro2798Arg)

SNV
Germline

Chr13:32370463

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA10577493

rs_276174906

6 SubmittersRCV000218832 RCV001375565 RCV003530016 RCV004020703 RCV004567679 RCV003998621

NM_000059.4(BRCA2):c.9168C>G (p.His3056Gln)

SNV
Germline

Chr13:32380057

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA10577495

rs_876661266

6 SubmittersRCV000219176 RCV000691157 RCV001018937 RCV003463620

NM_000059.4(BRCA2):c.9381G>A (p.Trp3127Ter)

SNV
Germline

Chr13:32394813

Pathogenic

Condition: not provided
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA10577497

rs_876661242

8 SubmittersRCV000219823 RCV000229281 RCV000256847 RCV000568965

NM_000059.4(BRCA2):c.9403C>T (p.Leu3135Phe)

SNV
Germline

Chr13:32394835

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Familial cancer of breast
not specified

Criteria Provided
Conflicting Classifications

CA10577499

rs_55704151

8 SubmittersRCV000219010 RCV000215156 RCV000238693 RCV000705106 RCV003475020 RCV004767175

NM_000059.4(BRCA2):c.9937A>G (p.Lys3313Glu)

SNV
Germline

Chr13:32398450

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10577502

rs_876661063

3 SubmittersRCV000217053 RCV001247257 RCV004948221

NM_032043.3(BRIP1):c.2854A>G (p.Ile952Val)

SNV
Germline

Chr17:61685887

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group J
Fanconi anemia complementation group J
Familial cancer of breast
Hereditary breast ovarian cancer syndrome
not specified
Familial ovarian cancer
Fanconi anemia complementation group J
Ovarian cancer

Criteria Provided
Conflicting Classifications

CA8690447

rs_200239986

15 SubmittersRCV000214349 RCV000215700 RCV000227974 RCV000709536 RCV000989990 RCV001030466 RCV001194733 RCV005361326 RCV005430283

NM_007194.4(CHEK2):c.1357G>C (p.Ala453Pro)

SNV
Germline

Chr22:28695145

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
not specified
Hereditary breast ovarian cancer syndrome
Malignant tumor of breast
CHEK2-related cancer predisposition
Familial prostate cancer
Bone osteosarcoma

Criteria Provided
Conflicting Classifications

CA10167674

rs_763395924

13 SubmittersRCV000215992 RCV000223343 RCV000535584 RCV000780185 RCV001030621 RCV001355832 RCV005025360

NM_007194.4(CHEK2):c.1232G>A (p.Trp411Ter)

SNV
Germline

Chr22:28695737

Pathogenic/Likely pathogenic

Condition: not provided
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast and/or ovarian cancer
CHEK2-related cancer predisposition
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Multiple Submitters
No Conflicts

CA10167706

rs_371418985

21 SubmittersRCV000220219 RCV000465371 RCV000448496 RCV002265697 RCV003491990 RCV006436701 RCV005416113

NM_007194.4(CHEK2):c.908+1G>T

SNV
Germline

Chr22:28703504

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA10577641

rs_587781699

8 SubmittersRCV000219083 RCV001018802 RCV002282061 RCV003335267

NM_000465.4(BARD1):c.1973G>A (p.Arg658His)

SNV
Germline

Chr2:214730439

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
not specified
Condition: not provided
Hereditary breast ovarian cancer syndrome
BARD1-related disorder
Hereditary cancer

Criteria Provided
Conflicting Classifications

CA2090111

rs_377227840

14 SubmittersRCV000223283 RCV000228912 RCV000430001 RCV000589126 RCV002225516 RCV003407748 RCV003491968

NM_000465.4(BARD1):c.1216C>T (p.Arg406Ter)

SNV
Germline

Chr2:214780658

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Breast carcinoma
Hereditary breast ovarian cancer syndrome
Malignant tumor of esophagus

Criteria Provided
Multiple Submitters
No Conflicts

CA2090324

rs_377153250

18 SubmittersRCV000217217 RCV000657592 RCV000560121 RCV001554323 RCV002225514 RCV005895028

NM_000465.4(BARD1):c.556A>G (p.Ser186Gly)

SNV
Germline

Chr2:214781318

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Hereditary breast ovarian cancer syndrome
Malignant tumor of breast
not specified
Ovarian cancer

Criteria Provided
Conflicting Classifications

CA2090411

rs_16852741

13 SubmittersRCV000218269 RCV000459373 RCV000589629 RCV001030671 RCV001356858 RCV002307449 RCV003153499

NM_000251.3(MSH2):c.266T>C (p.Val89Ala)

SNV
Germline

Chr2:47408455

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Hereditary breast ovarian cancer syndrome
not specified
Lynch syndrome
Lynch syndrome 1

Criteria Provided
Conflicting Classifications

CA10577929

rs_876659747

7 SubmittersRCV000215101 RCV000227027 RCV001030705 RCV001532987 RCV003997972 RCV005420821

NM_000051.4(ATM):c.2922C>T (p.Ser974=)

SNV
Germline

Chr11:108271251

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Ataxia-telangiectasia syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10579076

rs_758045139

5 SubmittersRCV000216505 RCV000435669 RCV001038165 RCV004760443

NM_000051.4(ATM):c.3078G>T (p.Trp1026Cys)

SNV
Germline

Chr11:108272532

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided
Familial cancer of breast
Hereditary breast ovarian cancer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA10579081

rs_876660869

6 SubmittersRCV000219464 RCV000704906 RCV001268471 RCV003469101 RCV004760450

NM_000051.4(ATM):c.6194T>C (p.Ile2065Thr)

SNV
Germline

Chr11:108316109

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided
not specified
Hereditary breast ovarian cancer syndrome
Familial cancer of breast
ATM-related disorder
ATM-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA6265873

rs_372838622

15 SubmittersRCV000219142 RCV000234193 RCV000235342 RCV001818521 RCV002225518 RCV003328566 RCV004547532 RCV005361272

NM_000051.4(ATM):c.7622T>G (p.Leu2541Arg)

SNV
Germline

Chr11:108331550

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Ataxia-telangiectasia syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10579264

rs_876658933

5 SubmittersRCV000222572 RCV001200383 RCV003500513 RCV005209495

NM_000051.4(ATM):c.8327T>C (p.Ile2776Thr)

SNV
Germline

Chr11:108343280

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided
not specified
Familial cancer of breast
ATM-related cancer predisposition
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA6266352

rs_746475628

14 SubmittersRCV000217725 RCV000229175 RCV000478838 RCV001818515 RCV003468980 RCV005361245 RCV005251097

NM_000059.4(BRCA2):c.-1A>T

SNV
Germline

Chr13:32316460

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10579442

rs_876659884

2 SubmittersRCV000217923 RCV001433009

NM_000059.4(BRCA2):c.7A>G (p.Ile3Val)

SNV
Germline

Chr13:32316467

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA6940305

rs_770479195

11 SubmittersRCV000222062 RCV000536609 RCV000988978 RCV000985596 RCV001193318

NM_000059.4(BRCA2):c.171C>A (p.Tyr57Ter)

SNV
Germline

Chr13:32319180

Pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA10579446

rs_201523522

5 SubmittersRCV000220700 RCV001551037 RCV000661867 RCV005629516

NM_000059.4(BRCA2):c.250C>G (p.Gln84Glu)

SNV
Germline

Chr13:32319259

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10579451

rs_80358515

3 SubmittersRCV000222485 RCV001853561

NM_000059.4(BRCA2):c.338G>A (p.Arg113Lys)

SNV
Germline

Chr13:32325097

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10579454

rs_876659161

6 SubmittersRCV000215283 RCV000478500 RCV000637720

NM_000059.4(BRCA2):c.497A>T (p.His166Leu)

SNV
Germline

Chr13:32326263

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Condition: not provided
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA10579461

rs_876658364

7 SubmittersRCV000219636 RCV000238704 RCV000560532 RCV001561823 RCV004567510

NM_000059.4(BRCA2):c.721A>T (p.Lys241Ter)

SNV
Germline

Chr13:32330958

Pathogenic

Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Condition: not provided

Reviewed By Expert Panel

CA10579470

rs_876659100

7 SubmittersRCV000219810 RCV000240982 RCV001853543 RCV003493517

NM_000059.4(BRCA2):c.833G>T (p.Ser278Ile)

SNV
Germline

Chr13:32332311

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10579474

rs_876659712

3 SubmittersRCV000220829 RCV005055763

NM_000059.4(BRCA2):c.928T>G (p.Leu310Val)

SNV
Germline

Chr13:32332406

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA6940476

rs_778907270

8 SubmittersRCV000219199 RCV000460087 RCV000985622 RCV003335250 RCV004804885

NM_000059.4(BRCA2):c.1115A>G (p.Asn372Ser)

SNV
Germline

Chr13:32332593

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA10579483

rs_876658943

6 SubmittersRCV000223387 RCV001215587 RCV003321549 RCV005411379

NM_000059.4(BRCA2):c.1129G>A (p.Glu377Lys)

SNV
Germline

Chr13:32332607

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10579484

rs_876658625

3 SubmittersRCV000222499 RCV000545937

NM_000059.4(BRCA2):c.1162G>T (p.Val388Leu)

SNV
Germline

Chr13:32332640

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10579486

rs_876660239

3 SubmittersRCV000219735 RCV001038620

NM_000059.4(BRCA2):c.1235C>T (p.Pro412Leu)

SNV
Germline

Chr13:32332713

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10579488

rs_876659628

5 SubmittersRCV000223027 RCV001201276 RCV001370854

NM_000059.4(BRCA2):c.1255T>C (p.Cys419Arg)

SNV
Germline

Chr13:32332733

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10579490

rs_876658829

5 SubmittersRCV000214848 RCV000500546 RCV001230481

NM_000059.4(BRCA2):c.1274A>G (p.Glu425Gly)

SNV
Germline

Chr13:32332752

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Fanconi anemia complementation group D1
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA6940501

rs_768169574

6 SubmittersRCV000222738 RCV000701503 RCV001115060 RCV001115059

NM_000059.4(BRCA2):c.1292C>T (p.Thr431Ile)

SNV
Germline

Chr13:32332770

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
BRCA2-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10579491

rs_876660828

6 SubmittersRCV000218910 RCV000539167 RCV003483581 RCV004998489

NM_000059.4(BRCA2):c.1409A>C (p.Glu470Ala)

SNV
Germline

Chr13:32332887

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Hereditary breast ovarian cancer syndrome
Breast and/or ovarian cancer
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA6940518

rs_750341436

11 SubmittersRCV000220996 RCV000499995 RCV000657040 RCV000757932 RCV001798723 RCV003998586

NM_000059.4(BRCA2):c.1457A>G (p.Gln486Arg)

SNV
Germline

Chr13:32332935

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10579496

rs_757735681

3 SubmittersRCV000221979 RCV001362728

NM_000059.4(BRCA2):c.1592A>C (p.Lys531Thr)

SNV
Germline

Chr13:32333070

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified

Criteria Provided
Conflicting Classifications

CA10579497

rs_876658771

4 SubmittersRCV000214061 RCV001207712 RCV005230109

NM_000059.4(BRCA2):c.1615G>A (p.Gly539Arg)

SNV
Germline

Chr13:32333093

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10579498

rs_876659513

3 SubmittersRCV000221828 RCV006612267

NM_000059.4(BRCA2):c.1651G>A (p.Asp551Asn)

SNV
Germline

Chr13:32333129

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10579499

rs_876660500

3 SubmittersRCV000223039 RCV002515727

NM_000059.4(BRCA2):c.1658T>C (p.Leu553Ser)

SNV
Germline

Chr13:32333136

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10579500

rs_876659627

3 SubmittersRCV000218747 RCV000228265

NM_000059.4(BRCA2):c.1756A>T (p.Lys586Ter)

SNV
Germline

Chr13:32333234

Pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA10579503

rs_397507275

6 SubmittersRCV000219960 RCV000505930 RCV000661446 RCV000637397

NM_000059.4(BRCA2):c.1772T>C (p.Ile591Thr)

SNV
Germline

Chr13:32333250

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA10579504

rs_876660511

6 SubmittersRCV000220224 RCV000637355 RCV002478814 RCV003998567

NM_000059.4(BRCA2):c.1775A>G (p.Tyr592Cys)

SNV
Germline

Chr13:32333253

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
BRCA2-related cancer predisposition
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6940540

rs_772156559

6 SubmittersRCV000221972 RCV000536637 RCV000781055 RCV004804906 RCV006450080

NM_000059.4(BRCA2):c.1780A>G (p.Ile594Val)

SNV
Germline

Chr13:32333258

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10579506

rs_431825287

5 SubmittersRCV000222554 RCV000232234 RCV004725086

NM_000059.4(BRCA2):c.1858T>C (p.Phe620Leu)

SNV
Germline

Chr13:32333336

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10579510

rs_876659195

3 SubmittersRCV000222114 RCV003530013

NM_000059.4(BRCA2):c.1871C>G (p.Ala624Gly)

SNV
Germline

Chr13:32333349

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10579511

rs_769698255

4 SubmittersRCV000217365 RCV002518258

NM_000059.4(BRCA2):c.1895C>G (p.Ala632Gly)

SNV
Germline

Chr13:32333373

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA10579512

rs_876659192

6 SubmittersRCV000214301 RCV000457899 RCV001199882 RCV003997903

NM_000059.4(BRCA2):c.2089A>G (p.Lys697Glu)

SNV
Germline

Chr13:32336444

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10579521

rs_876658320

4 SubmittersRCV000216832 RCV001339781 RCV004767166

NM_000059.4(BRCA2):c.2091A>C (p.Lys697Asn)

SNV
Germline

Chr13:32336446

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA10579522

rs_876659230

5 SubmittersRCV000215784 RCV001797681 RCV001853552 RCV003607264

NM_000059.4(BRCA2):c.2108C>T (p.Thr703Ile)

SNV
Germline

Chr13:32336463

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA10579523

rs_876660137

4 SubmittersRCV000222864 RCV000802485 RCV001292711

NM_000059.4(BRCA2):c.2148G>C (p.Gln716His)

SNV
Germline

Chr13:32336503

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
not specified
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA10579524

rs_876659550

8 SubmittersRCV000221379 RCV000528346 RCV001775688 RCV002247657 RCV003997946

NM_000059.4(BRCA2):c.2151T>A (p.Cys717Ter)

SNV
Germline

Chr13:32336506

Pathogenic

Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA10579525

rs_876660512

4 SubmittersRCV000213890 RCV000256776 RCV005090118

NM_000059.4(BRCA2):c.2197G>A (p.Val733Ile)

SNV
Germline

Chr13:32336552

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified

Criteria Provided
Conflicting Classifications

CA10579528

rs_876658303

5 SubmittersRCV000213758 RCV000531556 RCV003479066

NM_000059.4(BRCA2):c.2210C>G (p.Ala737Gly)

SNV
Germline

Chr13:32336565

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10579529

rs_876660923

4 SubmittersRCV000222373 RCV001854724

NM_000059.4(BRCA2):c.2231C>A (p.Ser744Ter)

SNV
Germline

Chr13:32336586

Pathogenic

Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA10579530

rs_397507282

3 SubmittersRCV000216087 RCV000661473 RCV001069278

NM_000059.4(BRCA2):c.2264C>G (p.Ser755Cys)

SNV
Germline

Chr13:32336619

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10579532

rs_876659060

5 SubmittersRCV000218185 RCV000460156 RCV001283916

NM_000059.4(BRCA2):c.2327A>G (p.Lys776Arg)

SNV
Germline

Chr13:32336682

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10579533

rs_876659502

4 SubmittersRCV000214319 RCV003150984 RCV002519698

NM_000059.4(BRCA2):c.2343C>A (p.Asn781Lys)

SNV
Germline

Chr13:32336698

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10579534

rs_876660253

3 SubmittersRCV000216667 RCV000547906

NM_000059.4(BRCA2):c.2492T>C (p.Val831Ala)

SNV
Germline

Chr13:32336847

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6940608

rs_779520270

7 SubmittersRCV000221675 RCV000695903 RCV003483579 RCV006259258

NM_000059.4(BRCA2):c.2585A>G (p.Lys862Arg)

SNV
Germline

Chr13:32336940

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10579538

rs_876659257

6 SubmittersRCV000222976 RCV000589742 RCV001797682 RCV001315760

NM_000059.4(BRCA2):c.2591A>T (p.Gln864Leu)

SNV
Germline

Chr13:32336946

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA10579539

rs_876659547

6 SubmittersRCV000220456 RCV000475885 RCV000507331 RCV003997944

NM_000059.4(BRCA2):c.2629C>A (p.Pro877Thr)

SNV
Germline

Chr13:32336984

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10579543

rs_80358524

4 SubmittersRCV000215829 RCV003644935

NM_000059.4(BRCA2):c.2641G>T (p.Glu881Ter)

SNV
Germline

Chr13:32336996

Pathogenic

Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Familial cancer of breast
BRCA2-related cancer predisposition

Reviewed By Expert Panel

CA10579544

rs_876658648

9 SubmittersRCV000213781 RCV000256675 RCV001217121 RCV003475008 RCV004804875

NM_000059.4(BRCA2):c.2651C>G (p.Ser884Ter)

SNV
Germline

Chr13:32337006

Pathogenic

Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Condition: not provided

Reviewed By Expert Panel

CA10579545

rs_777421358

7 SubmittersRCV000222044 RCV000257745 RCV002515636 RCV005230116

NM_000059.4(BRCA2):c.2659G>A (p.Glu887Lys)

SNV
Germline

Chr13:32337014

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10579546

rs_876658391

4 SubmittersRCV000216162 RCV000796825

NM_000059.4(BRCA2):c.2719A>G (p.Lys907Glu)

SNV
Germline

Chr13:32337074

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Breast cancer, susceptibility to
Hereditary breast ovarian cancer syndrome
Condition: not provided
not specified
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA10579549

rs_876659600

7 SubmittersRCV000216812 RCV000656469 RCV000809060 RCV003328569 RCV004586634 RCV004804899

NM_000059.4(BRCA2):c.2838T>G (p.Asp946Glu)

SNV
Germline

Chr13:32337193

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Invasive breast carcinoma
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA6940633

rs_149753706

6 SubmittersRCV000217163 RCV000677848 RCV001853537 RCV003997881

NM_000059.4(BRCA2):c.2848G>A (p.Val950Ile)

SNV
Germline

Chr13:32337203

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast and/or ovarian cancer

Criteria Provided
Conflicting Classifications

CA6940635

rs_775903570

11 SubmittersRCV000213594 RCV000238624 RCV000472527 RCV000478603 RCV000769689

NM_000059.4(BRCA2):c.2878A>G (p.Lys960Glu)

SNV
Germline

Chr13:32337233

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA10579554

rs_876659267

9 SubmittersRCV000216556 RCV000590528 RCV000690730 RCV003997914

NM_000059.4(BRCA2):c.2933A>G (p.Asn978Ser)

SNV
Germline

Chr13:32337288

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
BRCA2-related disorder

Criteria Provided
Conflicting Classifications

CA6940645

rs_775890004

7 SubmittersRCV000216885 RCV000704535 RCV003324734 RCV004529378

NM_000059.4(BRCA2):c.2936T>C (p.Ile979Thr)

SNV
Germline

Chr13:32337291

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10579556

rs_876659200

5 SubmittersRCV000216516 RCV000689948 RCV006450077

NM_000059.4(BRCA2):c.2956A>T (p.Asn986Tyr)

SNV
Germline

Chr13:32337311

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10579557

rs_760142268

3 SubmittersRCV000218720 RCV002298541

NM_000059.4(BRCA2):c.2963A>C (p.Asp988Ala)

SNV
Germline

Chr13:32337318

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Hereditary breast ovarian cancer syndrome
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA10579558

rs_876659509

6 SubmittersRCV000218795 RCV000496396 RCV001753666 RCV001853573 RCV004804897

NM_000059.4(BRCA2):c.2968A>G (p.Met990Val)

SNV
Germline

Chr13:32337323

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
not specified
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA10579559

rs_876660083

7 SubmittersRCV000222852 RCV000456252 RCV001800568 RCV002282060 RCV003998012

NM_000059.4(BRCA2):c.3070A>G (p.Ile1024Val)

SNV
Germline

Chr13:32337425

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10579563

rs_876659687

6 SubmittersRCV000217862 RCV000590483 RCV001853584

NM_000059.4(BRCA2):c.3100A>G (p.Ile1034Val)

SNV
Germline

Chr13:32337455

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
not specified

Criteria Provided
Conflicting Classifications

CA6940667

rs_755227053

7 SubmittersRCV000220832 RCV000255558 RCV001069562 RCV002509322

NM_000059.4(BRCA2):c.3101T>C (p.Ile1034Thr)

SNV
Germline

Chr13:32337456

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
not specified
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA6940668

rs_545974734

11 SubmittersRCV000218639 RCV000474468 RCV000589055 RCV003226255 RCV003997872

NM_000059.4(BRCA2):c.3113A>G (p.Tyr1038Cys)

SNV
Germline

Chr13:32337468

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10579564

rs_876659602

4 SubmittersRCV000217693 RCV000985491 RCV005090105

NM_000059.4(BRCA2):c.3121A>G (p.Ser1041Gly)

SNV
Germline

Chr13:32337476

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10579565

rs_876658343

3 SubmittersRCV000218556 RCV001853508

NM_000059.4(BRCA2):c.3263C>T (p.Pro1088Leu)

SNV
Germline

Chr13:32337618

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
not specified
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA10579569

rs_876660365

8 SubmittersRCV000220863 RCV000703369 RCV001589156 RCV002267965 RCV003998551

NM_000059.4(BRCA2):c.3281A>G (p.Lys1094Arg)

SNV
Germline

Chr13:32337636

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10579570

rs_876659782

3 SubmittersRCV000215681 RCV006462134

NM_000059.4(BRCA2):c.3286G>T (p.Asp1096Tyr)

SNV
Germline

Chr13:32337641

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10579571

rs_876660870

3 SubmittersRCV000222462 RCV001342615

NM_000059.4(BRCA2):c.3405C>A (p.Tyr1135Ter)

SNV
Germline

Chr13:32337760

Pathogenic

Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Condition: not provided

Reviewed By Expert Panel

CA10579576

rs_876659258

10 SubmittersRCV000216708 RCV000256734 RCV000545754 RCV003133190

NM_000059.4(BRCA2):c.3406A>G (p.Ile1136Val)

SNV
Germline

Chr13:32337761

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA10579577

rs_876658683

6 SubmittersRCV000218123 RCV000460858 RCV001545293 RCV003317160

NM_000059.4(BRCA2):c.3447G>A (p.Met1149Ile)

SNV
Germline

Chr13:32337802

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Fanconi anemia complementation group D1
Condition: not provided
Breast and/or ovarian cancer

Criteria Provided
Conflicting Classifications

CA10579578

rs_876660471

8 SubmittersRCV000221868 RCV000696715 RCV001109616 RCV001109617 RCV002478813 RCV003150129

NM_000059.4(BRCA2):c.3455T>A (p.Leu1152Ter)

SNV
Germline

Chr13:32337810

Pathogenic

Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Familial cancer of breast

Reviewed By Expert Panel

CA10579579

rs_80358593

6 SubmittersRCV000215781 RCV000257866 RCV000691010 RCV003475001

NM_000059.4(BRCA2):c.3628G>A (p.Asp1210Asn)

SNV
Germline

Chr13:32337983

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
BRCA2-related cancer predisposition
Inherited ovarian cancer (without breast cancer)
Condition: not provided
8 conditions

Criteria Provided
Conflicting Classifications

CA6940710

rs_774392592

10 SubmittersRCV000220676 RCV001214933 RCV003321554 RCV004804927 RCV004808638 RCV004772872 RCV005008170

NM_000059.4(BRCA2):c.3698C>T (p.Ala1233Val)

SNV
Germline

Chr13:32338053

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
not specified
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA6940718

rs_745700206

9 SubmittersRCV000214873 RCV000486250 RCV000473952 RCV001175565 RCV003997812

NM_000059.4(BRCA2):c.3737A>T (p.Asn1246Ile)

SNV
Germline

Chr13:32338092

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10579587

rs_876660679

4 SubmittersRCV000217516 RCV001582757 RCV001854707

NM_000059.4(BRCA2):c.3748G>A (p.Glu1250Lys)

SNV
Germline

Chr13:32338103

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10579588

rs_80358615

3 SubmittersRCV000221215 RCV001327561

NM_000059.4(BRCA2):c.3803C>T (p.Ser1268Phe)

SNV
Germline

Chr13:32338158

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10579590

rs_876659620

3 SubmittersRCV000213953 RCV000823187

NM_000059.4(BRCA2):c.3852T>A (p.Ser1284Arg)

SNV
Germline

Chr13:32338207

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome
8 conditions

Criteria Provided
Conflicting Classifications

CA10579592

rs_777895333

6 SubmittersRCV000217736 RCV001582752 RCV002515671 RCV005008167

NM_000059.4(BRCA2):c.3877A>C (p.Ile1293Leu)

SNV
Germline

Chr13:32338232

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10579593

rs_876659799

5 SubmittersRCV000221273 RCV000480203 RCV005055764

NM_000059.4(BRCA2):c.3900G>A (p.Met1300Ile)

SNV
Germline

Chr13:32338255

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2
not specified

Criteria Provided
Conflicting Classifications

CA10579595

rs_876659209

9 SubmittersRCV000219800 RCV000471803 RCV000985515 RCV002291599 RCV002307454

NM_000059.4(BRCA2):c.3983G>A (p.Ser1328Asn)

SNV
Germline

Chr13:32338338

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA6940737

rs_753690365

4 SubmittersRCV000222332 RCV001232699

NM_000059.4(BRCA2):c.3983G>C (p.Ser1328Thr)

SNV
Germline

Chr13:32338338

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA10579597

rs_753690365

5 SubmittersRCV000215901 RCV000700826 RCV005361313

NM_000059.4(BRCA2):c.4003G>T (p.Glu1335Ter)

SNV
Germline

Chr13:32338358

Pathogenic

Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Breast and/or ovarian cancer
BRCA2-related disorder

Reviewed By Expert Panel

CA6940739

rs_747070579

11 SubmittersRCV000220552 RCV000241203 RCV000257988 RCV000768628 RCV004725089

NM_000059.4(BRCA2):c.4089C>A (p.Asn1363Lys)

SNV
Germline

Chr13:32338444

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10579600

rs_80359787

6 SubmittersRCV000222803 RCV001212587 RCV003323461 RCV002478812

NM_000059.4(BRCA2):c.4118T>C (p.Met1373Thr)

SNV
Germline

Chr13:32338473

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Breast and/or ovarian cancer
Hereditary breast ovarian cancer syndrome
Familial cancer of breast
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA6940751

rs_750581150

8 SubmittersRCV000216455 RCV000770726 RCV001344239 RCV005411381 RCV006263774 RCV006273655

NM_000059.4(BRCA2):c.4289C>T (p.Thr1430Ile)

SNV
Germline

Chr13:32338644

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10579607

rs_876659247

5 SubmittersRCV000213473 RCV000818006 RCV003477733

NM_000059.4(BRCA2):c.4292C>T (p.Ala1431Val)

SNV
Germline

Chr13:32338647

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10579608

rs_876659272

4 SubmittersRCV000217324 RCV000526222 RCV004998462

NM_000059.4(BRCA2):c.4300A>G (p.Lys1434Glu)

SNV
Germline

Chr13:32338655

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified

Criteria Provided
Conflicting Classifications

CA10579609

rs_876659616

4 SubmittersRCV000216344 RCV000637731 RCV005418021

NM_000059.4(BRCA2):c.4321G>C (p.Glu1441Gln)

SNV
Germline

Chr13:32338676

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified

Criteria Provided
Conflicting Classifications

CA10579610

rs_876659758

5 SubmittersRCV000223496 RCV001238191 RCV001800563

NM_000059.4(BRCA2):c.4366G>A (p.Glu1456Lys)

SNV
Germline

Chr13:32338721

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA10579613

rs_876659847

5 SubmittersRCV000213410 RCV000478805 RCV000637358 RCV000989029

NM_000059.4(BRCA2):c.4427A>G (p.Asp1476Gly)

SNV
Germline

Chr13:32338782

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA6940780

rs_745425169

4 SubmittersRCV000220363 RCV003644945 RCV003998574

NM_000059.4(BRCA2):c.4450G>A (p.Asp1484Asn)

SNV
Germline

Chr13:32338805

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Pancreatic cancer, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA10579617

rs_876660070

4 SubmittersRCV000214723 RCV000810885 RCV005361324

NM_000059.4(BRCA2):c.4464C>G (p.His1488Gln)

SNV
Germline

Chr13:32338819

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10579619

rs_786203743

3 SubmittersRCV000217795 RCV001853559

NM_000059.4(BRCA2):c.4516T>C (p.Phe1506Leu)

SNV
Germline

Chr13:32338871

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
8 conditions

Criteria Provided
Conflicting Classifications

CA10579623

rs_876659011

7 SubmittersRCV000214758 RCV000797532 RCV003997885 RCV006259240 RCV005008163

NM_000059.4(BRCA2):c.4649A>G (p.Glu1550Gly)

SNV
Germline

Chr13:32339004

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10579627

rs_876660887

5 SubmittersRCV000222967 RCV000226204 RCV001284571

NM_000059.4(BRCA2):c.4685A>C (p.Gln1562Pro)

SNV
Germline

Chr13:32339040

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Familial cancer of breast
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA6940805

rs_544688816

7 SubmittersRCV000218490 RCV000483116 RCV000697106 RCV003607260 RCV004804863

NM_000059.4(BRCA2):c.4747A>G (p.Ile1583Val)

SNV
Germline

Chr13:32339102

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10579629

rs_56072130

8 SubmittersRCV000216123 RCV000424635 RCV001223526 RCV003997911 RCV006259251

NM_000059.4(BRCA2):c.4765C>G (p.Pro1589Ala)

SNV
Germline

Chr13:32339120

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10579630

rs_876660366

4 SubmittersRCV000213837 RCV001063391

NM_000059.4(BRCA2):c.4782G>T (p.Met1594Ile)

SNV
Germline

Chr13:32339137

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified

Criteria Provided
Conflicting Classifications

CA10579631

rs_876658930

4 SubmittersRCV000222181 RCV002054972 RCV005230111

NM_000059.4(BRCA2):c.4790C>G (p.Ser1597Cys)

SNV
Germline

Chr13:32339145

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10579632

rs_876660146

3 SubmittersRCV000218551 RCV001244127

NM_000059.4(BRCA2):c.4796A>G (p.Asn1599Ser)

SNV
Germline

Chr13:32339151

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Malignant tumor of breast
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10579633

rs_149759218

10 SubmittersRCV000222382 RCV000230978 RCV000238876 RCV000501254 RCV000590510

NM_000059.4(BRCA2):c.4817C>G (p.Ser1606Cys)

SNV
Germline

Chr13:32339172

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10579634

rs_876659853

4 SubmittersRCV000221205 RCV002515674 RCV003477746

NM_000059.4(BRCA2):c.4825A>G (p.Thr1609Ala)

SNV
Germline

Chr13:32339180

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
8 conditions
Condition: not provided
Malignant tumor of breast
Breast and/or ovarian cancer

Criteria Provided
Conflicting Classifications

CA10579635

rs_876659201

9 SubmittersRCV000220835 RCV000459523 RCV000763889 RCV001283927 RCV001358220 RCV003150125

NM_000059.4(BRCA2):c.4960T>G (p.Cys1654Gly)

SNV
Germline

Chr13:32339315

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA10579640

rs_876659012

5 SubmittersRCV000218439 RCV001059418 RCV003997886

NM_000059.4(BRCA2):c.5021G>C (p.Ser1674Thr)

SNV
Germline

Chr13:32339376

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified

Criteria Provided
Conflicting Classifications

CA10579642

rs_876660602

4 SubmittersRCV000218484 RCV000816027 RCV003493533

NM_000059.4(BRCA2):c.5045G>A (p.Ser1682Asn)

SNV
Germline

Chr13:32339400

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA10579644

rs_41293493

6 SubmittersRCV000217172 RCV000526805 RCV001568510 RCV002469078

NM_000059.4(BRCA2):c.5212A>T (p.Thr1738Ser)

SNV
Germline

Chr13:32339567

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
BRCA2-related disorder

Criteria Provided
Conflicting Classifications

CA10579647

rs_876658357

5 SubmittersRCV000216747 RCV001057975 RCV003997799 RCV004725074

NM_000059.4(BRCA2):c.5245T>C (p.Tyr1749His)

SNV
Germline

Chr13:32339600

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA10579649

rs_876658731

5 SubmittersRCV000218601 RCV001853520 RCV004804877

NM_000059.4(BRCA2):c.5266G>C (p.Val1756Leu)

SNV
Germline

Chr13:32339621

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA10579650

rs_876659138

7 SubmittersRCV000221851 RCV001303523 RCV001284426 RCV003330589

NM_000059.4(BRCA2):c.5267T>A (p.Val1756Glu)

SNV
Germline

Chr13:32339622

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Fanconi anemia complementation group D1
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA6940863

rs_770664957

6 SubmittersRCV000216072 RCV000985541 RCV001112466 RCV001112024 RCV001854705 RCV005361346

NM_000059.4(BRCA2):c.5449T>G (p.Ser1817Ala)

SNV
Germline

Chr13:32339804

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10579655

rs_876658566

7 SubmittersRCV000216871 RCV001059265 RCV001284431

NM_000059.4(BRCA2):c.5456C>T (p.Pro1819Leu)

SNV
Germline

Chr13:32339811

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified

Criteria Provided
Conflicting Classifications

CA10579656

rs_876659214

4 SubmittersRCV000222449 RCV000811063 RCV001526938

NM_000059.4(BRCA2):c.5553C>G (p.Ile1851Met)

SNV
Germline

Chr13:32339908

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA6940885

rs_573514896

6 SubmittersRCV000215045 RCV000239014 RCV000587837 RCV001359833

NM_000059.4(BRCA2):c.5605A>G (p.Ser1869Gly)

SNV
Germline

Chr13:32339960

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA10579657

rs_876659256

4 SubmittersRCV000218600 RCV001351506 RCV003493520

NM_000059.4(BRCA2):c.5693A>G (p.Asp1898Gly)

SNV
Germline

Chr13:32340048

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
not specified
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA10579662

rs_876658786

8 SubmittersRCV000221842 RCV000637792 RCV001547277 RCV002228952 RCV003997859

NM_000059.4(BRCA2):c.5694T>G (p.Asp1898Glu)

SNV
Germline

Chr13:32340049

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA10579663

rs_876658756

5 SubmittersRCV000220876 RCV000813129 RCV005600835

NM_000059.4(BRCA2):c.5699C>G (p.Ser1900Ter)

SNV
Germline

Chr13:32340054

Pathogenic

Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Familial cancer of breast

Reviewed By Expert Panel

CA10579664

rs_397507797

4 SubmittersRCV000215854 RCV000661849 RCV001854723 RCV003475041

NM_000059.4(BRCA2):c.5707A>G (p.Ile1903Val)

SNV
Germline

Chr13:32340062

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2
Medulloblastoma

Criteria Provided
Conflicting Classifications

CA10579665

rs_431825333

6 SubmittersRCV000220000 RCV000791836 RCV000759628 RCV003991026 RCV006454663

NM_000059.4(BRCA2):c.5719T>A (p.Ser1907Thr)

SNV
Germline

Chr13:32340074

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10579666

rs_753445027

4 SubmittersRCV000220788 RCV003644942 RCV006259257

NM_000059.4(BRCA2):c.5725G>A (p.Asp1909Asn)

SNV
Germline

Chr13:32340080

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10579668

rs_764827027

4 SubmittersRCV000215216 RCV001055003

NM_000059.4(BRCA2):c.5888G>A (p.Gly1963Glu)

SNV
Germline

Chr13:32340243

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10579670

rs_876659836

4 SubmittersRCV000213567 RCV001853593 RCV004998469

NM_000059.4(BRCA2):c.6014A>G (p.Asp2005Gly)

SNV
Germline

Chr13:32340369

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA10579674

rs_876658259

4 SubmittersRCV000214421 RCV000691490 RCV004804862

NM_000059.4(BRCA2):c.6038A>G (p.Lys2013Arg)

SNV
Germline

Chr13:32340393

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10579676

rs_876660593

3 SubmittersRCV000213457 RCV002298542

NM_000059.4(BRCA2):c.6092C>G (p.Thr2031Ser)

SNV
Germline

Chr13:32340447

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10579678

rs_876658761

3 SubmittersRCV000217731 RCV003644937

NM_000059.4(BRCA2):c.6119T>C (p.Ile2040Thr)

SNV
Germline

Chr13:32340474

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10579679

rs_876659473

4 SubmittersRCV000216340 RCV000467262 RCV000589937

NM_000059.4(BRCA2):c.6170G>T (p.Gly2057Val)

SNV
Germline

Chr13:32340525

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10579682

rs_876660308

5 SubmittersRCV000213853 RCV000637797 RCV003321552 RCV004591013

NM_000059.4(BRCA2):c.6195A>C (p.Gln2065His)

SNV
Germline

Chr13:32340550

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10579683

rs_876658875

4 SubmittersRCV000213428 RCV006555700

NM_000059.4(BRCA2):c.6212G>C (p.Ser2071Thr)

SNV
Germline

Chr13:32340567

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA6940934

rs_80358861

5 SubmittersRCV000220310 RCV000532875

NM_000059.4(BRCA2):c.6238T>G (p.Leu2080Val)

SNV
Germline

Chr13:32340593

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
not specified

Criteria Provided
Conflicting Classifications

CA10579685

rs_876658993

5 SubmittersRCV000220359 RCV001562948 RCV002518295 RCV002282058

NM_000059.4(BRCA2):c.6331A>G (p.Lys2111Glu)

SNV
Germline

Chr13:32340686

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6940945

rs_773211804

9 SubmittersRCV000221895 RCV000466720 RCV000663128 RCV004017526

NM_000059.4(BRCA2):c.6347A>T (p.His2116Leu)

SNV
Germline

Chr13:32340702

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Fanconi anemia complementation group D1
Breast-ovarian cancer, familial, susceptibility to, 2
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA10579690

rs_55953736

8 SubmittersRCV000219720 RCV001071124 RCV001311839 RCV001535551 RCV003997951 RCV005361308

NM_000059.4(BRCA2):c.6351T>A (p.Cys2117Ter)

SNV
Germline

Chr13:32340706

Pathogenic

Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA10579691

rs_876659368

3 SubmittersRCV000221121 RCV000661437 RCV005629515

NM_000059.4(BRCA2):c.6379A>C (p.Ser2127Arg)

SNV
Germline

Chr13:32340734

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA10579692

rs_876660938

5 SubmittersRCV000213262 RCV001303378 RCV003998609

NM_000059.4(BRCA2):c.6419G>T (p.Gly2140Val)

SNV
Germline

Chr13:32340774

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10579693

rs_876659898

3 SubmittersRCV000214465 RCV006612268

NM_000059.4(BRCA2):c.6450A>C (p.Lys2150Asn)

SNV
Germline

Chr13:32340805

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA10579696

rs_876658814

5 SubmittersRCV000215239 RCV000555951 RCV000780002 RCV004804880

NM_000059.4(BRCA2):c.6469C>G (p.Gln2157Glu)

SNV
Germline

Chr13:32340824

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
Condition: not provided
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA10579698

rs_397507859

9 SubmittersRCV000214385 RCV000462334 RCV000483077 RCV000767191 RCV003607259 RCV003997780

NM_000059.4(BRCA2):c.6521T>C (p.Val2174Ala)

SNV
Germline

Chr13:32340876

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10579699

rs_876659448

6 SubmittersRCV000214298 RCV000558925 RCV000779957 RCV004998464

NM_000059.4(BRCA2):c.6524A>G (p.Glu2175Gly)

SNV
Germline

Chr13:32340879

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10579700

rs_876660314

3 SubmittersRCV000215008 RCV006612270

NM_000059.4(BRCA2):c.6532C>G (p.His2178Asp)

SNV
Germline

Chr13:32340887

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA6940966

rs_80358885

3 SubmittersRCV000219518 RCV001853610

NM_000059.4(BRCA2):c.6568G>T (p.Val2190Leu)

SNV
Germline

Chr13:32340923

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified

Criteria Provided
Conflicting Classifications

CA6940968

rs_80358888

4 SubmittersRCV000222390 RCV000794072 RCV001193750

NM_000059.4(BRCA2):c.6581T>C (p.Ile2194Thr)

SNV
Germline

Chr13:32340936

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA10579703

rs_876660049

6 SubmittersRCV000215118 RCV001340631 RCV003493528

NM_000059.4(BRCA2):c.6715G>A (p.Glu2239Lys)

SNV
Germline

Chr13:32341070

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Breast neoplasm
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10579706

rs_276174876

4 SubmittersRCV000221713 RCV000677826 RCV006612266

NM_000059.4(BRCA2):c.6728C>G (p.Ser2243Cys)

SNV
Germline

Chr13:32341083

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified

Criteria Provided
Conflicting Classifications

CA10579707

rs_876659031

5 SubmittersRCV000221235 RCV001055505 RCV002247650

NM_000059.4(BRCA2):c.6755C>G (p.Ser2252Cys)

SNV
Germline

Chr13:32341110

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10579710

rs_876658504

4 SubmittersRCV000217607 RCV000687819

NM_000059.4(BRCA2):c.7039C>G (p.Pro2347Ala)

SNV
Germline

Chr13:32354892

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast and/or ovarian cancer

Criteria Provided
Conflicting Classifications

CA10579720

rs_876660668

6 SubmittersRCV000221584 RCV000552298 RCV001812637 RCV003491987

NM_000059.4(BRCA2):c.7360A>T (p.Ile2454Phe)

SNV
Germline

Chr13:32355213

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
8 conditions
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA10579734

rs_876660249

7 SubmittersRCV000221214 RCV001363273 RCV001284103 RCV002485429 RCV003998036

NM_000059.4(BRCA2):c.7366C>T (p.Gln2456Ter)

SNV
Germline

Chr13:32355219

Pathogenic

Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Familial cancer of breast
Condition: not provided

Reviewed By Expert Panel

CA10579735

rs_397507912

9 SubmittersRCV000220866 RCV000257405 RCV000637747 RCV003462523 RCV003488478

NM_000059.4(BRCA2):c.7435+5T>C

SNV
Germline

Chr13:32355293

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Breast and/or ovarian cancer

Criteria Provided
Conflicting Classifications

CA10579737

rs_775973095

5 SubmittersRCV000220618 RCV000239195 RCV000556162 RCV003150121

NM_000059.4(BRCA2):c.7505G>T (p.Arg2502Leu)

SNV
Germline

Chr13:32356497

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10579740

rs_56070345

3 SubmittersRCV000217818 RCV002515652

NM_000059.4(BRCA2):c.7516C>T (p.Gln2506Ter)

SNV
Germline

Chr13:32356508

Pathogenic

Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA10579742

rs_876658631

6 SubmittersRCV000215458 RCV000256919 RCV000496223

NM_000059.4(BRCA2):c.7547C>T (p.Ser2516Phe)

SNV
Germline

Chr13:32356539

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA6941107

rs_571800995

7 SubmittersRCV000217254 RCV000506211 RCV000662938 RCV000697908 RCV004804911

NM_000059.4(BRCA2):c.7683G>C (p.Gln2561His)

SNV
Germline

Chr13:32357807

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10579748

rs_786201304

2 SubmittersRCV000214747 RCV003530011

NM_000059.4(BRCA2):c.7711G>A (p.Glu2571Lys)

SNV
Germline

Chr13:32357835

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
not specified

Criteria Provided
Conflicting Classifications

CA10579750

rs_876659501

4 SubmittersRCV000220452 RCV000662909 RCV001069086 RCV003150983

NM_000059.4(BRCA2):c.7744G>A (p.Ala2582Thr)

SNV
Germline

Chr13:32357868

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10579751

rs_876660384

3 SubmittersRCV000219913 RCV000463676

NM_000059.4(BRCA2):c.7781A>G (p.Lys2594Arg)

SNV
Germline

Chr13:32357905

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
8 conditions
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA10579754

rs_876660874

9 SubmittersRCV000220613 RCV000479011 RCV000637678 RCV000765138 RCV003998603

NM_000059.4(BRCA2):c.7783G>A (p.Ala2595Thr)

SNV
Germline

Chr13:32357907

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Familial cancer of breast
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10579755

rs_80359007

6 SubmittersRCV000215916 RCV001253637 RCV001370818 RCV003463602 RCV004591036

NM_000059.4(BRCA2):c.7795G>A (p.Glu2599Lys)

SNV
Germline

Chr13:32357919

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10579756

rs_41293509

4 SubmittersRCV000223559 RCV001067846 RCV002225522

NM_000059.4(BRCA2):c.7826G>T (p.Gly2609Val)

SNV
Germline

Chr13:32362543

Likely pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Familial cancer of breast
BRCA2-related cancer predisposition

Reviewed By Expert Panel

CA10579757

rs_80359009

9 SubmittersRCV000216317 RCV000255714 RCV000556406 RCV004567605 RCV006259273

NM_000059.4(BRCA2):c.7880T>A (p.Ile2627Asn)

SNV
Germline

Chr13:32362597

Likely pathogenic

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA10579758

rs_876658736

3 SubmittersRCV000213139 RCV001042596 RCV001311841

NM_000059.4(BRCA2):c.7884A>G (p.Ile2628Met)

SNV
Germline

Chr13:32362601

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA6941162

rs_529779203

4 SubmittersRCV000216002 RCV000521359 RCV000689119 RCV005361349

NM_000059.4(BRCA2):c.7891C>A (p.Leu2631Met)

SNV
Germline

Chr13:32362608

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome
Familial cancer of breast
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10579759

rs_876660528

6 SubmittersRCV000217903 RCV002469079 RCV001854701 RCV004567646 RCV006259288

NM_000059.4(BRCA2):c.7912T>C (p.Phe2638Leu)

SNV
Germline

Chr13:32362629

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
BRCA2-related cancer predisposition
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10579760

rs_876658206

5 SubmittersRCV000213845 RCV000824395 RCV005365146 RCV006259217

NM_000059.4(BRCA2):c.7933A>G (p.Arg2645Gly)

SNV
Germline

Chr13:32362650

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
not specified
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA10579761

rs_876658889

6 SubmittersRCV000222813 RCV000552479 RCV000759664 RCV001193806 RCV003997876

NM_000059.4(BRCA2):c.7976+4A>G

SNV
Germline

Chr13:32362697

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10579762

rs_876659445

2 SubmittersRCV000215910 RCV003644943

NM_000059.4(BRCA2):c.8040C>G (p.Asp2680Glu)

SNV
Germline

Chr13:32363242

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA10579765

rs_876660013

6 SubmittersRCV000218538 RCV000535538 RCV001753675 RCV004567618

NM_000059.4(BRCA2):c.8102C>G (p.Ser2701Cys)

SNV
Germline

Chr13:32363304

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10579767

rs_876660229

3 SubmittersRCV000221838 RCV000462721 RCV000759670

NM_000059.4(BRCA2):c.8150C>T (p.Ala2717Val)

SNV
Germline

Chr13:32363352

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10579768

rs_876659220

3 SubmittersRCV000218823 RCV000818965

NM_000059.4(BRCA2):c.8165C>A (p.Thr2722Lys)

SNV
Germline

Chr13:32363367

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Multiple Submitters
No Conflicts

CA10579769

rs_80359062

3 SubmittersRCV000219871 RCV001853527 RCV004791339

NM_000059.4(BRCA2):c.8192A>G (p.Gln2731Arg)

SNV
Germline

Chr13:32363394

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA6941197

rs_753837544

4 SubmittersRCV000213899 RCV000239285 RCV000465649

NM_000059.4(BRCA2):c.8201C>T (p.Pro2734Leu)

SNV
Germline

Chr13:32363403

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
BRCA2-related disorder
BRCA2-related cancer predisposition
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA10579771

rs_876658732

6 SubmittersRCV000223518 RCV000558611 RCV004532781 RCV004804878 RCV004567528

NM_000059.4(BRCA2):c.8215G>C (p.Val2739Leu)

SNV
Germline

Chr13:32363417

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA6941198

rs_80359069

3 SubmittersRCV000222709 RCV000637629

NM_000059.4(BRCA2):c.8215G>T (p.Val2739Phe)

SNV
Germline

Chr13:32363417

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
not specified

Criteria Provided
Conflicting Classifications

CA6941199

rs_80359069

6 SubmittersRCV000221702 RCV000485331 RCV000699496 RCV003401136

NM_000059.4(BRCA2):c.8324T>A (p.Met2775Lys)

SNV
Germline

Chr13:32363526

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Inherited breast cancer and ovarian cancer

Criteria Provided
Conflicting Classifications

CA10579775

rs_80359073

7 SubmittersRCV000222038 RCV000409541 RCV001853507 RCV005430513

NM_000059.4(BRCA2):c.8331+2T>G

SNV
Germline

Chr13:32363535

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Multiple Submitters
No Conflicts

CA10579777

rs_398122602

5 SubmittersRCV000217152 RCV001215392 RCV004760445 RCV005361276

NM_000059.4(BRCA2):c.8404C>G (p.Pro2802Ala)

SNV
Germline

Chr13:32370474

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA10579782

rs_876659273

3 SubmittersRCV000221655 RCV002515631 RCV003997916

NM_000059.4(BRCA2):c.8430T>G (p.Ser2810Arg)

SNV
Germline

Chr13:32370500

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10579785

rs_876658487

3 SubmittersRCV000214305 RCV006555699

NM_000059.4(BRCA2):c.8440A>G (p.Asn2814Asp)

SNV
Germline

Chr13:32370510

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
Condition: not provided
BRCA2-related disorder
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA10579786

rs_876660312

8 SubmittersRCV000213395 RCV001054105 RCV001280582 RCV001770183 RCV004725090 RCV004804922

NM_000059.4(BRCA2):c.8468A>G (p.Gln2823Arg)

SNV
Germline

Chr13:32370538

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA10579788

rs_876660101

7 SubmittersRCV000221719 RCV000458714 RCV000588882 RCV004804913

NM_000059.4(BRCA2):c.8479C>G (p.Pro2827Ala)

SNV
Germline

Chr13:32370549

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10579789

rs_786202484

3 SubmittersRCV000219415 RCV000457355

NM_000059.4(BRCA2):c.8488-5T>C

SNV
Germline

Chr13:32370951

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Breast and/or ovarian cancer

Criteria Provided
Conflicting Classifications

CA6941250

rs_533806629

12 SubmittersRCV000213120 RCV000504448 RCV000590772 RCV001087971 RCV001770176 RCV003150122

NM_000059.4(BRCA2):c.8494G>C (p.Glu2832Gln)

SNV
Germline

Chr13:32370962

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Malignant tumor of breast
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10579790

rs_876658951

4 SubmittersRCV000214685 RCV001358025 RCV001853538

NM_000059.4(BRCA2):c.8527A>G (p.Asn2843Asp)

SNV
Germline

Chr13:32370995

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA10579792

rs_876660403

8 SubmittersRCV000219865 RCV000483025 RCV000541298 RCV005420844 RCV004804925

NM_000059.4(BRCA2):c.8530G>A (p.Glu2844Lys)

SNV
Germline

Chr13:32370998

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Fanconi anemia complementation group D1
Malignant tumor of breast
Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6941257

rs_755783122

8 SubmittersRCV000215245 RCV000232530 RCV000307069 RCV000503308 RCV000662587 RCV003477718

NM_000059.4(BRCA2):c.8551G>T (p.Ala2851Ser)

SNV
Germline

Chr13:32371019

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Familial cancer of breast
not specified
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA10579793

rs_876658592

8 SubmittersRCV000223606 RCV000697939 RCV001775680 RCV003462437 RCV004800342 RCV004804873

NM_000059.4(BRCA2):c.8552C>T (p.Ala2851Val)

SNV
Germline

Chr13:32371020

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10579794

rs_876660247

3 SubmittersRCV000220977 RCV006259283 RCV006462142

NM_000059.4(BRCA2):c.8686C>T (p.Arg2896Cys)

SNV
Germline

Chr13:32376723

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
Breast and/or ovarian cancer
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA6941285

rs_373203204

15 SubmittersRCV000223550 RCV000257957 RCV000499406 RCV000768609 RCV001795355 RCV003234773 RCV003475018

NM_000059.4(BRCA2):c.8737G>C (p.Asp2913His)

SNV
Germline

Chr13:32376774

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
not specified
Familial cancer of breast
BRCA2-related disorder

Criteria Provided
Conflicting Classifications

CA6941288

rs_144322424

7 SubmittersRCV000216210 RCV000527864 RCV000586685 RCV001731446 RCV004567566 RCV004732796

NM_000059.4(BRCA2):c.8740C>G (p.Pro2914Ala)

SNV
Germline

Chr13:32376777

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA10579797

rs_876660226

5 SubmittersRCV000219964 RCV001228457 RCV003477756 RCV003475029

NM_000059.4(BRCA2):c.8771A>G (p.Glu2924Gly)

SNV
Germline

Chr13:32379333

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA10579798

rs_876658844

6 SubmittersRCV000213436 RCV000690114 RCV001778806 RCV002286723 RCV003997870

NM_000059.4(BRCA2):c.8798G>C (p.Arg2933Thr)

SNV
Germline

Chr13:32379360

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA6941300

rs_553440338

8 SubmittersRCV000223494 RCV000637645 RCV001528588 RCV003475038

NM_000059.4(BRCA2):c.8849A>G (p.Lys2950Arg)

SNV
Germline

Chr13:32379411

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10579799

rs_876660155

3 SubmittersRCV000215509 RCV000238942 RCV006612269

NM_000059.4(BRCA2):c.8897T>C (p.Val2966Ala)

SNV
Germline

Chr13:32379459

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
8 conditions

Criteria Provided
Conflicting Classifications

CA10579801

rs_876658955

5 SubmittersRCV000216219 RCV000637359 RCV001357680 RCV005008162

NM_000059.4(BRCA2):c.8928C>G (p.Ser2976Arg)

SNV
Germline

Chr13:32379490

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
not specified
Familial cancer of breast
BRCA2-related disorder
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA10579802

rs_771267741

9 SubmittersRCV000217481 RCV000365940 RCV000463522 RCV001260351 RCV003475030 RCV004732797 RCV005213239

NM_000059.4(BRCA2):c.9179T>G (p.Phe3060Cys)

SNV
Germline

Chr13:32380068

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10579813

rs_876659750

2 SubmittersRCV000222844 RCV001297705

NM_000059.4(BRCA2):c.9209C>G (p.Ser3070Cys)

SNV
Germline

Chr13:32380098

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10579817

rs_747837583

2 SubmittersRCV000216286 RCV003644933

NM_000059.4(BRCA2):c.9217G>T (p.Asp3073Tyr)

SNV
Germline

Chr13:32380106

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10579818

rs_876658262

3 SubmittersRCV000220645 RCV002518246

NM_000059.4(BRCA2):c.9248A>G (p.Lys3083Arg)

SNV
Germline

Chr13:32380137

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10579821

rs_876658793

3 SubmittersRCV000219940 RCV001853526

NM_000059.4(BRCA2):c.9259C>A (p.Leu3087Ile)

SNV
Germline

Chr13:32394691

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10579822

rs_876660803

4 SubmittersRCV000217149 RCV001326010 RCV002281071

NM_000059.4(BRCA2):c.9331G>A (p.Glu3111Lys)

SNV
Germline

Chr13:32394763

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA10579825

rs_397508047

5 SubmittersRCV000214353 RCV001296898 RCV000985624 RCV004804867

NM_000059.4(BRCA2):c.9350A>G (p.His3117Arg)

SNV
Germline

Chr13:32394782

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2
8 conditions

Criteria Provided
Conflicting Classifications

CA10579828

rs_80359206

7 SubmittersRCV000219723 RCV000698559 RCV001800567 RCV003128600 RCV003998008 RCV005008168

NM_000059.4(BRCA2):c.9398C>T (p.Ser3133Leu)

SNV
Germline

Chr13:32394830

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
BRCA2-related cancer predisposition
Breast-ovarian cancer, familial, susceptibility to, 2
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA10579830

rs_876659439

7 SubmittersRCV000218662 RCV000482847 RCV001853565 RCV004804893 RCV005361305 RCV006450079

NM_000059.4(BRCA2):c.9409A>G (p.Thr3137Ala)

SNV
Germline

Chr13:32394841

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA6941382

rs_746036918

3 SubmittersRCV000216090 RCV001853583 RCV003997952

NM_000059.4(BRCA2):c.9490A>G (p.Asn3164Asp)

SNV
Germline

Chr13:32394922

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA10579833

rs_876658597

4 SubmittersRCV000218527 RCV000637427 RCV003462439

NM_000059.4(BRCA2):c.9497T>C (p.Val3166Ala)

SNV
Germline

Chr13:32394929

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10579834

rs_876658721

3 SubmittersRCV000217879 RCV003530012

NM_000059.4(BRCA2):c.9530A>G (p.Glu3177Gly)

SNV
Germline

Chr13:32396926

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Condition: not provided
8 conditions
not specified

Criteria Provided
Conflicting Classifications

CA10579835

rs_876658365

11 SubmittersRCV000222361 RCV000239286 RCV000550708 RCV000758978 RCV000765144 RCV000780013

NM_000059.4(BRCA2):c.9550C>G (p.Leu3184Val)

SNV
Germline

Chr13:32396946

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10579836

rs_876660551

4 SubmittersRCV000221965 RCV001204824 RCV001589158

NM_000059.4(BRCA2):c.9571T>C (p.Trp3191Arg)

SNV
Germline

Chr13:32396967

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10579839

rs_876658351

4 SubmittersRCV000218164 RCV001284455 RCV001853510

NM_000059.4(BRCA2):c.9911G>A (p.Cys3304Tyr)

SNV
Germline

Chr13:32398424

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA10579850

rs_876658506

5 SubmittersRCV000223068 RCV000551258 RCV004783765 RCV005055757

NM_000059.4(BRCA2):c.10159A>G (p.Thr3387Ala)

SNV
Germline

Chr13:32398672

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
8 conditions

Criteria Provided
Conflicting Classifications

CA10579859

rs_786202571

4 SubmittersRCV000217613 RCV001219199 RCV003493516 RCV005008161

NM_000059.4(BRCA2):c.10189T>A (p.Ser3397Thr)

SNV
Germline

Chr13:32398702

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10579861

rs_876660044

3 SubmittersRCV000220269 RCV000231576

NM_024675.4(PALB2):c.3350G>A (p.Arg1117Lys)

SNV
Germline

Chr16:23607864

Pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Hereditary breast ovarian cancer syndrome
not specified
Breast-ovarian cancer, familial, susceptibility to, 5
Condition: not provided
PALB2-related cancer predisposition

Reviewed By Expert Panel

CA10579920

rs_876659859

9 SubmittersRCV000217139 RCV000533846 RCV002277578 RCV002271470 RCV003315422 RCV004998471 RCV005639044

NM_024675.4(PALB2):c.3113+5G>C

SNV
Germline

Chr16:23621357

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Fanconi anemia complementation group N
Breast-ovarian cancer, familial, susceptibility to, 5
Pancreatic cancer, susceptibility to, 3
PALB2-related cancer predisposition
Breast-ovarian cancer, familial, susceptibility to, 5
Hereditary breast ovarian cancer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA10579931

rs_876659463

15 SubmittersRCV000214215 RCV000231026 RCV000255512 RCV005016593 RCV006554502 RCV005416112 RCV006452521

NM_024675.4(PALB2):c.541G>T (p.Glu181Ter)

SNV
Germline

Chr16:23636005

Pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Hereditary breast ovarian cancer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA10580039

rs_864622280

4 SubmittersRCV000219378 RCV001060848 RCV005237732

NM_001042492.3(NF1):c.4409G>A (p.Ser1470Asn)

SNV
Germline

Chr17:31259108

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Neurofibromatosis, type 1
Neurofibromatosis-Noonan syndrome
Neurofibromatosis, type 1
Neurofibromatosis, familial spinal
Juvenile myelomonocytic leukemia
Café-au-lait macules with pulmonary stenosis
Hereditary breast ovarian cancer syndrome
not specified
Condition: not provided
Cardiovascular phenotype
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10580315

rs_876660093

8 SubmittersRCV000222235 RCV000632497 RCV000764112 RCV001030575 RCV001731450 RCV002478807 RCV004558547

NM_001042492.3(NF1):c.4942A>G (p.Thr1648Ala)

SNV
Germline

Chr17:31325926

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Neurofibromatosis, type 1
Hereditary breast ovarian cancer syndrome
Condition: not provided
Cardiovascular phenotype
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA8487119

rs_770558820

5 SubmittersRCV000219524 RCV000469644 RCV001030577 RCV001567513 RCV002338691

NM_001042492.3(NF1):c.5160G>T (p.Glu1720Asp)

SNV
Germline

Chr17:31326144

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Neurofibromatosis, type 1
not specified
Condition: not provided
Hereditary breast ovarian cancer syndrome
Neurofibromatosis-Noonan syndrome
Neurofibromatosis, familial spinal
Café-au-lait macules with pulmonary stenosis
Cardiovascular phenotype
Hereditary cancer-predisposing syndrome
Neurofibromatosis, familial spinal
Neurofibromatosis, type 1
Juvenile myelomonocytic leukemia
Neurofibromatosis-Noonan syndrome
Café-au-lait macules with pulmonary stenosis

Criteria Provided
Conflicting Classifications

CA8487141

rs_773378630

8 SubmittersRCV000219317 RCV000460990 RCV000780547 RCV000680828 RCV001030578 RCV001126130 RCV001126132 RCV001126131 RCV002338690 RCV005016582

NM_002878.4(RAD51D):c.*4G>A

SNV
Germline

Chr17:35100949

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 4

Criteria Provided
Conflicting Classifications

CA10580436

rs_876659026

5 SubmittersRCV000216661 RCV000444590 RCV004701286 RCV005425832

NM_002878.4(RAD51D):c.835G>A (p.Asp279Asn)

SNV
Germline

Chr17:35101269

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 4
not specified
Hereditary breast ovarian cancer syndrome
Familial ovarian cancer

Criteria Provided
Conflicting Classifications

CA8499336

rs_765271127

7 SubmittersRCV000213661 RCV000484011 RCV000649693 RCV003321550 RCV005361303 RCV005600841

NM_002878.4(RAD51D):c.619T>C (p.Ser207Pro)

SNV
Germline

Chr17:35103502

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 4
Condition: not provided
Breast cancer, susceptibility to
Hereditary breast ovarian cancer syndrome
Familial ovarian cancer

Criteria Provided
Conflicting Classifications

CA10580452

rs_372365287

9 SubmittersRCV000216942 RCV000534748 RCV001560841 RCV005411378 RCV005361243 RCV005600825

NM_002878.4(RAD51D):c.442C>T (p.Gln148Ter)

SNV
Germline

Chr17:35107026

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 4
Hereditary breast ovarian cancer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA8499475

rs_773906955

6 SubmittersRCV000215616 RCV000657692 RCV001853569 RCV002509315

NM_007294.4(BRCA1):c.5587T>G (p.Tyr1863Asp)

SNV
Germline

Chr17:43045683

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA10580478

rs_763740623

6 SubmittersRCV000221236 RCV000468773 RCV000759563 RCV003462475

NM_007294.4(BRCA1):c.5534A>G (p.Tyr1845Cys)

SNV
Germline

Chr17:43045736

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10580481

rs_876660280

3 SubmittersRCV000217888 RCV001078041 RCV002298540

NM_007294.4(BRCA1):c.5407-4C>G

SNV
Germline

Chr17:43047707

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10580483

rs_876660347

8 SubmittersRCV000222294 RCV000343466 RCV000433879 RCV001073214 RCV001697223

NM_007294.4(BRCA1):c.5277G>T (p.Lys1759Asn)

SNV
Germline

Chr17:43057052

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10580489

rs_80356854

3 SubmittersRCV000215290 RCV001077118 RCV001853577

NM_007294.4(BRCA1):c.5221G>A (p.Val1741Ile)

SNV
Germline

Chr17:43057108

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10580493

rs_876659122

4 SubmittersRCV000214759 RCV001076641 RCV001245538

NM_007294.4(BRCA1):c.5200T>A (p.Phe1734Ile)

SNV
Germline

Chr17:43057129

Likely pathogenic

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Familial cancer of breast
BRCA1-related cancer predisposition

Reviewed By Expert Panel

CA10580495

rs_80356957

8 SubmittersRCV000221287 RCV000538997 RCV001077019 RCV003477738 RCV006255340 RCV005628802

NM_007294.4(BRCA1):c.5135G>A (p.Trp1712Ter)

SNV
Germline

Chr17:43063891

Pathogenic

Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Fanconi anemia, complementation group S
Breast-ovarian cancer, familial, susceptibility to, 1
Pancreatic cancer, susceptibility to, 4

Reviewed By Expert Panel

CA10580498

rs_876658672

8 SubmittersRCV000223034 RCV000257427 RCV001386034 RCV004796113

NM_007294.4(BRCA1):c.5108A>G (p.Tyr1703Cys)

SNV
Germline

Chr17:43063918

Likely pathogenic

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Fanconi anemia, complementation group S
BRCA1-related cancer predisposition

Reviewed By Expert Panel

CA10580499

rs_876660071

9 SubmittersRCV000218067 RCV000796831 RCV000989872 RCV002470823 RCV006259281

NM_007294.4(BRCA1):c.5041A>C (p.Thr1681Pro)

SNV
Germline

Chr17:43067641

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA10580500

rs_876659314

7 SubmittersRCV000222202 RCV000588966 RCV000706562 RCV001077958

NM_007294.4(BRCA1):c.4909C>T (p.Pro1637Ser)

SNV
Germline

Chr17:43071005

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10580506

rs_876659989

3 SubmittersRCV000215187 RCV001073140 RCV001320785

NM_007294.4(BRCA1):c.4856C>T (p.Thr1619Ile)

SNV
Germline

Chr17:43071058

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA10580507

rs_876659163

4 SubmittersRCV000219146 RCV001209529 RCV003316216

NM_007294.4(BRCA1):c.4748G>A (p.Arg1583Lys)

SNV
Germline

Chr17:43071166

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA052895

rs_752624544

3 SubmittersRCV000215051 RCV000473778 RCV002250601

NM_007294.4(BRCA1):c.4185G>C (p.Gln1395His)

SNV
Germline

Chr17:43090944

Likely pathogenic

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA10580532

rs_80356857

3 SubmittersRCV000215792 RCV001853601

NM_007294.4(BRCA1):c.4162C>T (p.Gln1388Ter)

SNV
Germline

Chr17:43090967

Pathogenic

Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Condition: not provided

Reviewed By Expert Panel

CA10580534

rs_876660601

6 SubmittersRCV000215519 RCV000661269 RCV000805865 RCV002478815

NM_007294.4(BRCA1):c.4063A>G (p.Asn1355Asp)

SNV
Germline

Chr17:43091468

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
not specified

Criteria Provided
Conflicting Classifications

CA10580536

rs_876660530

7 SubmittersRCV000214543 RCV000483643 RCV000557477 RCV000781029

NM_007294.4(BRCA1):c.4048G>T (p.Gly1350Cys)

SNV
Germline

Chr17:43091483

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
not specified
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA059014

rs_748674194

9 SubmittersRCV000214306 RCV000231203 RCV000486044 RCV001800555 RCV003997909

NM_007294.4(BRCA1):c.3985G>A (p.Glu1329Lys)

SNV
Germline

Chr17:43091546

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10580538

rs_876659467

6 SubmittersRCV000222324 RCV002515648 RCV002271469 RCV006259261

NM_007294.4(BRCA1):c.3979C>T (p.Gln1327Ter)

SNV
Germline

Chr17:43091552

Pathogenic

Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA10580539

rs_876659720

4 SubmittersRCV000222415 RCV000661273 RCV001043869

NM_007294.4(BRCA1):c.3969A>T (p.Gln1323His)

SNV
Germline

Chr17:43091562

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10580540

rs_876660410

5 SubmittersRCV000218395 RCV001294911 RCV004998484

NM_007294.4(BRCA1):c.3964A>C (p.Lys1322Gln)

SNV
Germline

Chr17:43091567

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10580542

rs_80357343

3 SubmittersRCV000220524 RCV003644938

NM_007294.4(BRCA1):c.3904G>A (p.Glu1302Lys)

SNV
Germline

Chr17:43091627

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10580544

rs_80357461

3 SubmittersRCV000213550 RCV001308606

NM_007294.4(BRCA1):c.3896A>G (p.Gln1299Arg)

SNV
Germline

Chr17:43091635

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA10580545

rs_876660866

6 SubmittersRCV000222275 RCV000559565 RCV001284292 RCV004591035

NM_007294.4(BRCA1):c.3862G>C (p.Glu1288Gln)

SNV
Germline

Chr17:43091669

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10580547

rs_876659708

3 SubmittersRCV000222247 RCV002298538

NM_007294.4(BRCA1):c.3815A>G (p.Asn1272Ser)

SNV
Germline

Chr17:43091716

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Hereditary breast ovarian cancer syndrome
BRCA1-related cancer predisposition
Fanconi anemia, complementation group S
Pancreatic cancer, susceptibility to, 4
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA059173

rs_772703445

8 SubmittersRCV000222961 RCV000759528 RCV000780977 RCV001087816 RCV004804909 RCV005016599

NM_007294.4(BRCA1):c.3798C>A (p.Ser1266Arg)

SNV
Germline

Chr17:43091733

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA10580550

rs_200648498

5 SubmittersRCV000220403 RCV001857765 RCV003477722 RCV003997852

NM_007294.4(BRCA1):c.3712C>T (p.Pro1238Ser)

SNV
Germline

Chr17:43091819

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10580553

rs_876659772

5 SubmittersRCV000216367 RCV000443846 RCV001220681 RCV004998468

NM_007294.4(BRCA1):c.3710T>C (p.Ile1237Thr)

SNV
Germline

Chr17:43091821

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10580554

rs_876660883

3 SubmittersRCV000223148 RCV000689308

NM_007294.4(BRCA1):c.3659A>T (p.Asp1220Val)

SNV
Germline

Chr17:43091872

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 1
not specified

Criteria Provided
Conflicting Classifications

CA059305

rs_766572561

8 SubmittersRCV000222315 RCV001224925 RCV001571199 RCV003493525 RCV004596122

NM_007294.4(BRCA1):c.3583C>T (p.His1195Tyr)

SNV
Germline

Chr17:43091948

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10580557

rs_876659903

3 SubmittersRCV000219923 RCV001070488

NM_007294.4(BRCA1):c.3569C>T (p.Pro1190Leu)

SNV
Germline

Chr17:43091962

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA059382

rs_755209182

7 SubmittersRCV000220504 RCV000554022 RCV000985402 RCV003316232

NM_007294.4(BRCA1):c.3505G>T (p.Asp1169Tyr)

SNV
Germline

Chr17:43092026

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA10580558

rs_876659269

5 SubmittersRCV000220929 RCV001853554 RCV003997915

NM_007294.4(BRCA1):c.3475A>G (p.Ile1159Val)

SNV
Germline

Chr17:43092056

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10580559

rs_876658318

4 SubmittersRCV000214527 RCV003530009

NM_007294.4(BRCA1):c.3440C>A (p.Ser1147Tyr)

SNV
Germline

Chr17:43092091

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10580562

rs_876660757

4 SubmittersRCV000214844 RCV000474008

NM_007294.4(BRCA1):c.3401A>T (p.Glu1134Val)

SNV
Germline

Chr17:43092130

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA057907

rs_762744684

7 SubmittersRCV000220075 RCV000474129 RCV000484803 RCV000663155

NM_007294.4(BRCA1):c.3398T>C (p.Leu1133Ser)

SNV
Germline

Chr17:43092133

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10580563

rs_80356971

4 SubmittersRCV000219552 RCV002518273

NM_007294.4(BRCA1):c.3361A>C (p.Asn1121His)

SNV
Germline

Chr17:43092170

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10580564

rs_876660526

3 SubmittersRCV000221251 RCV005090119

NM_007294.4(BRCA1):c.3345A>C (p.Glu1115Asp)

SNV
Germline

Chr17:43092186

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA10580565

rs_876658243

6 SubmittersRCV000222328 RCV000695211 RCV003477713 RCV005620918

NM_007294.4(BRCA1):c.3274G>A (p.Glu1092Lys)

SNV
Germline

Chr17:43092257

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10580570

rs_876658360

3 SubmittersRCV000221833 RCV001374017

NM_007294.4(BRCA1):c.3227G>T (p.Arg1076Ile)

SNV
Germline

Chr17:43092304

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10580574

rs_80357313

3 SubmittersRCV000222863 RCV000543033

NM_007294.4(BRCA1):c.3181A>G (p.Ile1061Val)

SNV
Germline

Chr17:43092350

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Fanconi anemia, complementation group S
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA10580575

rs_876658975

7 SubmittersRCV000220855 RCV000554549 RCV001582748 RCV005365154

NM_007294.4(BRCA1):c.3167C>T (p.Ser1056Phe)

SNV
Germline

Chr17:43092364

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10580578

rs_587781588

6 SubmittersRCV000220358 RCV000779900 RCV001853536 RCV002510823

NM_007294.4(BRCA1):c.3166T>C (p.Ser1056Pro)

SNV
Germline

Chr17:43092365

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10580579

rs_876659601

6 SubmittersRCV000220872 RCV000483943 RCV001853582

NM_007294.4(BRCA1):c.3160G>A (p.Val1054Met)

SNV
Germline

Chr17:43092371

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA10580580

rs_876658479

5 SubmittersRCV000216681 RCV000819699 RCV003997820

NM_007294.4(BRCA1):c.3154A>G (p.Asn1052Asp)

SNV
Germline

Chr17:43092377

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA058093

rs_768995134

4 SubmittersRCV000219103 RCV005055767 RCV006259279

NM_007294.4(BRCA1):c.2996T>G (p.Leu999Arg)

SNV
Germline

Chr17:43092535

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10580584

rs_876659514

3 SubmittersRCV000214217 RCV001853574

NM_007294.4(BRCA1):c.2992C>G (p.Leu998Val)

SNV
Germline

Chr17:43092539

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10580585

rs_876659077

6 SubmittersRCV000217975 RCV000462913 RCV003223627

NM_007294.4(BRCA1):c.2969T>C (p.Val990Ala)

SNV
Germline

Chr17:43092562

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA058187

rs_760588785

4 SubmittersRCV000216079 RCV001306990 RCV001544574

NM_007294.4(BRCA1):c.2967T>A (p.Phe989Leu)

SNV
Germline

Chr17:43092564

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary breast ovarian cancer syndrome
not specified
BRCA1-related cancer predisposition
Fanconi anemia, complementation group S
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA10580587

rs_876659270

12 SubmittersRCV000217575 RCV000238878 RCV000480997 RCV000813770 RCV004689681 RCV004804887 RCV005361297

NM_007294.4(BRCA1):c.2960A>G (p.Lys987Arg)

SNV
Germline

Chr17:43092571

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA10580588

rs_876659990

6 SubmittersRCV000216565 RCV001227006 RCV001569188 RCV003998002

NM_007294.4(BRCA1):c.2942C>A (p.Pro981Gln)

SNV
Germline

Chr17:43092589

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10580590

rs_876659025

4 SubmittersRCV000218628 RCV001218201 RCV006259242

NM_007294.4(BRCA1):c.2932T>C (p.Tyr978His)

SNV
Germline

Chr17:43092599

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10580591

rs_876659545

4 SubmittersRCV000216386 RCV003997943 RCV006555703

NM_007294.4(BRCA1):c.2836A>T (p.Ile946Phe)

SNV
Germline

Chr17:43092695

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
Condition: not provided
BRCA1-related cancer predisposition
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA10580595

rs_876660901

8 SubmittersRCV000221752 RCV000796435 RCV000779885 RCV003128601 RCV004804932 RCV005620924

NM_007294.4(BRCA1):c.2831G>A (p.Cys944Tyr)

SNV
Germline

Chr17:43092700

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA058288

rs_770769275

4 SubmittersRCV000215126 RCV003387809 RCV005090082

NM_007294.4(BRCA1):c.2738A>G (p.Asn913Ser)

SNV
Germline

Chr17:43092793

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA10580602

rs_199954851

8 SubmittersRCV000217466 RCV000478791 RCV000758804 RCV000794318 RCV003997964

NM_007294.4(BRCA1):c.2719G>T (p.Glu907Ter)

SNV
Germline

Chr17:43092812

Pathogenic

Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA10580603

rs_876658593

4 SubmittersRCV000220421 RCV000257610 RCV002519675

NM_007294.4(BRCA1):c.2663A>C (p.His888Pro)

SNV
Germline

Chr17:43092868

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Fanconi anemia, complementation group S
Familial cancer of breast
Pancreatic cancer, susceptibility to, 4
Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10580608

rs_876658843

6 SubmittersRCV000213188 RCV001051347 RCV000764122 RCV001589144

NM_007294.4(BRCA1):c.2518A>C (p.Ser840Arg)

SNV
Germline

Chr17:43093013

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA10580613

rs_377475866

6 SubmittersRCV000216626 RCV000526016 RCV003441800 RCV003997949

NM_007294.4(BRCA1):c.2468G>T (p.Arg823Ile)

SNV
Germline

Chr17:43093063

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10580614

rs_876659731

9 SubmittersRCV000217280 RCV000590056 RCV001853587 RCV003997968 RCV005628803

NM_007294.4(BRCA1):c.2404G>T (p.Val802Leu)

SNV
Germline

Chr17:43093127

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10580616

rs_876660885

5 SubmittersRCV000218931 RCV001036169

NM_007294.4(BRCA1):c.2393C>T (p.Pro798Leu)

SNV
Germline

Chr17:43093138

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10580618

rs_876660005

11 SubmittersRCV000217281 RCV000462014 RCV000616046 RCV001701879

NM_007294.4(BRCA1):c.2381C>T (p.Ala794Val)

SNV
Germline

Chr17:43093150

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10580620

rs_7502059

3 SubmittersRCV000215863 RCV001049535

NM_007294.4(BRCA1):c.2263G>A (p.Glu755Lys)

SNV
Germline

Chr17:43093268

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
not specified
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA10580626

rs_41286296

6 SubmittersRCV000216413 RCV000483305 RCV001057480 RCV002229928 RCV003997802

NM_007294.4(BRCA1):c.2224A>G (p.Asn742Asp)

SNV
Germline

Chr17:43093307

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10580629

rs_876658733

5 SubmittersRCV000219842 RCV000690878 RCV004701284

NM_007294.4(BRCA1):c.2185G>A (p.Glu729Lys)

SNV
Germline

Chr17:43093346

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10580631

rs_876659852

3 SubmittersRCV000217581 RCV006555706

NM_007294.4(BRCA1):c.2131A>G (p.Lys711Glu)

SNV
Germline

Chr17:43093400

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Ovarian cancer

Criteria Provided
Conflicting Classifications

CA058796

rs_747046197

4 SubmittersRCV000216442 RCV001237190 RCV003153496

NM_007294.4(BRCA1):c.2128A>G (p.Thr710Ala)

SNV
Germline

Chr17:43093403

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10580633

rs_876659959

4 SubmittersRCV000220616 RCV000800757

NM_007294.4(BRCA1):c.2102A>G (p.Lys701Arg)

SNV
Germline

Chr17:43093429

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA10580634

rs_876658307

5 SubmittersRCV000217556 RCV000228648 RCV000663105

NM_007294.4(BRCA1):c.2101A>T (p.Lys701Ter)

SNV
Germline

Chr17:43093430

Pathogenic

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
BRCA1-related cancer predisposition

Reviewed By Expert Panel

CA10580635

rs_876660282

7 SubmittersRCV000218292 RCV000531745 RCV000660958 RCV000758792 RCV004804920

NM_007294.4(BRCA1):c.2065A>G (p.Ser689Gly)

SNV
Germline

Chr17:43093466

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA10580637

rs_876660188

6 SubmittersRCV000219139 RCV000400810 RCV001193769 RCV001370913 RCV003998026

NM_007294.4(BRCA1):c.2043T>G (p.Ser681Arg)

SNV
Germline

Chr17:43093488

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified

Criteria Provided
Conflicting Classifications

CA10580638

rs_143920945

5 SubmittersRCV000214049 RCV000542308 RCV000779863

NM_007294.4(BRCA1):c.2021C>G (p.Pro674Arg)

SNV
Germline

Chr17:43093510

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10580639

rs_876660543

4 SubmittersRCV000215962 RCV000484472 RCV000695958

NM_007294.4(BRCA1):c.1978G>A (p.Val660Ile)

SNV
Germline

Chr17:43093553

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Inherited ovarian cancer (without breast cancer)

Criteria Provided
Conflicting Classifications

CA10580640

rs_876660889

7 SubmittersRCV000214150 RCV001040287 RCV003493534 RCV004584211

NM_007294.4(BRCA1):c.1931G>T (p.Cys644Phe)

SNV
Germline

Chr17:43093600

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10580642

rs_876658606

4 SubmittersRCV000222843 RCV001326943

NM_007294.4(BRCA1):c.1928G>T (p.Ser643Ile)

SNV
Germline

Chr17:43093603

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10580643

rs_876660335

5 SubmittersRCV000215317 RCV000822190 RCV003998547 RCV004998482

NM_007294.4(BRCA1):c.1891C>A (p.Leu631Ile)

SNV
Germline

Chr17:43093640

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10580644

rs_876659175

3 SubmittersRCV000213970 RCV002298534

NM_007294.4(BRCA1):c.1886G>T (p.Arg629Ile)

SNV
Germline

Chr17:43093645

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Fanconi anemia, complementation group S
Pancreatic cancer, susceptibility to, 4
Breast-ovarian cancer, familial, susceptibility to, 1
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA10580645

rs_876660144

5 SubmittersRCV000218573 RCV001039828 RCV002485428

NM_007294.4(BRCA1):c.1878A>G (p.Val626=)

SNV
Germline

Chr17:43093653

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Fanconi anemia, complementation group S

Criteria Provided
Conflicting Classifications

CA057600

rs_8176154

9 SubmittersRCV000222216 RCV000438203 RCV000533270 RCV001125931 RCV001722185 RCV005365156

NM_007294.4(BRCA1):c.1853G>A (p.Arg618Lys)

SNV
Germline

Chr17:43093678

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10580646

rs_876659527

4 SubmittersRCV000217671 RCV001061904

NM_007294.4(BRCA1):c.1829G>A (p.Arg610Lys)

SNV
Germline

Chr17:43093702

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10580648

rs_876660322

4 SubmittersRCV000215923 RCV000806900

NM_007294.4(BRCA1):c.1718C>T (p.Ser573Leu)

SNV
Germline

Chr17:43093813

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified

Criteria Provided
Conflicting Classifications

CA10580654

rs_876660434

5 SubmittersRCV000215763 RCV000637517 RCV002267966

NM_007294.4(BRCA1):c.1717T>C (p.Ser573Pro)

SNV
Germline

Chr17:43093814

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10580655

rs_876660448

4 SubmittersRCV000215894 RCV000590339 RCV002295293

NM_007294.4(BRCA1):c.1714G>C (p.Glu572Gln)

SNV
Germline

Chr17:43093817

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10580656

rs_730881473

4 SubmittersRCV000217032 RCV003323460 RCV002519715

NM_007294.4(BRCA1):c.1662G>C (p.Glu554Asp)

SNV
Germline

Chr17:43093869

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
Condition: not provided
Fanconi anemia, complementation group S
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 1
Pancreatic cancer, susceptibility to, 4
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA10580659

rs_876659028

8 SubmittersRCV000213495 RCV000703330 RCV001527044 RCV001762483 RCV002503869 RCV003233502

NM_007294.4(BRCA1):c.1654G>A (p.Gly552Ser)

SNV
Germline

Chr17:43093877

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA057428

rs_758598971

4 SubmittersRCV000222076 RCV000637646

NM_007294.4(BRCA1):c.1496C>T (p.Thr499Ile)

SNV
Germline

Chr17:43094035

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10580663

rs_876658285

3 SubmittersRCV000218862 RCV000817719

NM_007294.4(BRCA1):c.1472A>C (p.Gln491Pro)

SNV
Germline

Chr17:43094059

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10580664

rs_80357376

3 SubmittersRCV000221725 RCV003530008

NM_007294.4(BRCA1):c.1469C>T (p.Pro490Leu)

SNV
Germline

Chr17:43094062

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10580665

rs_876658291

3 SubmittersRCV000213319 RCV002518249

NM_007294.4(BRCA1):c.1400A>G (p.Lys467Arg)

SNV
Germline

Chr17:43094131

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10580667

rs_876659316

4 SubmittersRCV000215080 RCV000550455

NM_007294.4(BRCA1):c.1394A>G (p.Tyr465Cys)

SNV
Germline

Chr17:43094137

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA10580668

rs_876659885

6 SubmittersRCV000219459 RCV000779853 RCV000801376 RCV003997990

NM_007294.4(BRCA1):c.1324T>C (p.Cys442Arg)

SNV
Germline

Chr17:43094207

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10580670

rs_876660734

4 SubmittersRCV000218713 RCV001854712

NM_007294.4(BRCA1):c.1255G>C (p.Val419Leu)

SNV
Germline

Chr17:43094276

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Malignant tumor of breast
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA10580672

rs_876658873

8 SubmittersRCV000220648 RCV000467786 RCV000502439 RCV000587670 RCV003997873

NM_007294.4(BRCA1):c.1155G>A (p.Trp385Ter)

SNV
Germline

Chr17:43094376

Pathogenic

Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA10580676

rs_876660558

3 SubmittersRCV000215799 RCV000241412 RCV000807369

NM_007294.4(BRCA1):c.1139A>C (p.Gln380Pro)

SNV
Germline

Chr17:43094392

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10580678

rs_876659193

3 SubmittersRCV000218218 RCV000707559

NM_007294.4(BRCA1):c.1031C>T (p.Ala344Val)

SNV
Germline

Chr17:43094500

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10580683

rs_876658636

3 SubmittersRCV000223230 RCV001238345

NM_007294.4(BRCA1):c.1005C>A (p.Ser335Arg)

SNV
Germline

Chr17:43094526

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified

Criteria Provided
Conflicting Classifications

CA10580685

rs_876660367

5 SubmittersRCV000221259 RCV000475154 RCV000589343

NM_007294.4(BRCA1):c.982T>C (p.Cys328Arg)

SNV
Germline

Chr17:43094549

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
Condition: not provided
Fanconi anemia, complementation group S
Familial cancer of breast
Pancreatic cancer, susceptibility to, 4
Breast-ovarian cancer, familial, susceptibility to, 1
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA056948

rs_748156170

9 SubmittersRCV000220053 RCV000231864 RCV000506531 RCV001731443 RCV002485416 RCV003997808

NM_007294.4(BRCA1):c.914G>A (p.Cys305Tyr)

SNV
Germline

Chr17:43094617

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA10580687

rs_751124745

5 SubmittersRCV000214980 RCV000555637 RCV001192475 RCV006255338

NM_007294.4(BRCA1):c.884A>G (p.Asp295Gly)

SNV
Germline

Chr17:43094647

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome
Malignant tumor of breast
Condition: not provided
BRCA1-related cancer predisposition
Breast-ovarian cancer, familial, susceptibility to, 1
Pancreatic cancer, susceptibility to, 4
Fanconi anemia, complementation group S

Criteria Provided
Conflicting Classifications

CA056863

rs_772684048

13 SubmittersRCV000217932 RCV000501807 RCV000537146 RCV001353575 RCV001689754 RCV004804918 RCV005016602

NM_007294.4(BRCA1):c.716A>T (p.His239Leu)

SNV
Germline

Chr17:43094815

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
BRCA1-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA10580689

rs_80357396

9 SubmittersRCV000215014 RCV000226910 RCV000410574 RCV000485971 RCV004804886

NM_007294.4(BRCA1):c.482C>T (p.Thr161Ile)

SNV
Germline

Chr17:43099840

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10580693

rs_876660138

2 SubmittersRCV000215915 RCV000530001

NM_007294.4(BRCA1):c.442C>T (p.Gln148Ter)

SNV
Germline

Chr17:43099880

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA10580699

rs_876659614

7 SubmittersRCV000219699 RCV000238612 RCV000779852 RCV001589152 RCV005237747

NM_007294.4(BRCA1):c.255G>T (p.Glu85Asp)

SNV
Germline

Chr17:43104914

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA055485

rs_756499058

5 SubmittersRCV000220243 RCV001077787 RCV001853517

NM_007294.4(BRCA1):c.132C>T (p.Cys44=)

SNV
Germline

Chr17:43115728

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary breast ovarian cancer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA10580710

rs_876658362

8 SubmittersRCV000217253 RCV000258218 RCV000985366 RCV001254330

NM_007294.4(BRCA1):c.122A>T (p.His41Leu)

SNV
Germline

Chr17:43115738

Likely pathogenic

Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary breast ovarian cancer syndrome
Fanconi anemia, complementation group S
BRCA1-related cancer predisposition

Reviewed By Expert Panel

CA10580711

rs_80357276

10 SubmittersRCV000221074 RCV000238698 RCV000484008 RCV001194451 RCV001292947 RCV005415419

NM_007294.4(BRCA1):c.98A>C (p.Glu33Ala)

SNV
Germline

Chr17:43115762

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA10580712

rs_876660844

5 SubmittersRCV000214380 RCV000544483 RCV001076972

NM_007294.4(BRCA1):c.86A>G (p.Glu29Gly)

SNV
Germline

Chr17:43115774

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA059876

rs_773841328

8 SubmittersRCV000218323 RCV000687386 RCV001076955 RCV001812635

NM_007294.4(BRCA1):c.74C>T (p.Pro25Leu)

SNV
Germline

Chr17:43124023

Likely pathogenic

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast and/or ovarian cancer
Breast-ovarian cancer, familial, susceptibility to, 1
BRCA1-related cancer predisposition

Reviewed By Expert Panel

CA10580713

rs_876660096

7 SubmittersRCV000223256 RCV000227670 RCV000236374 RCV000735502 RCV001072405 RCV005415420

NM_007294.4(BRCA1):c.10T>C (p.Ser4Pro)

SNV
Germline

Chr17:43124087

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10580715

rs_876658707

6 SubmittersRCV000216237 RCV001072306 RCV000706715 RCV003221867

NM_058216.3(RAD51C):c.404G>A (p.Cys135Tyr)

SNV
Germline

Chr17:58695189

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group O
Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 3

Criteria Provided
Multiple Submitters
No Conflicts

CA8677207

rs_767796996

11 SubmittersRCV000217463 RCV000458645 RCV000709503 RCV001582758 RCV002467443

NM_058216.3(RAD51C):c.656T>C (p.Leu219Ser)

SNV
Germline

Chr17:58703280

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group O
Condition: not provided
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 3
not specified

Criteria Provided
Conflicting Classifications

CA8677291

rs_201529791

10 SubmittersRCV000220889 RCV000475356 RCV000759334 RCV000709507 RCV003153507 RCV004701292

NM_058216.3(RAD51C):c.724G>A (p.Asp242Asn)

SNV
Germline

Chr17:58709877

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group O
Breast-ovarian cancer, familial, susceptibility to, 3
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10580749

rs_876659188

7 SubmittersRCV000214496 RCV000409976 RCV000411579 RCV000709511

NM_058216.3(RAD51C):c.914G>A (p.Trp305Ter)

SNV
Germline

Chr17:58724049

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 3
Fanconi anemia complementation group O
Fanconi anemia complementation group O
Breast-ovarian cancer, familial, susceptibility to, 3
RAD51C-related disorder
Hereditary breast ovarian cancer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA10580757

rs_876659874

15 SubmittersRCV000221970 RCV000236899 RCV000662608 RCV000541903 RCV002221519 RCV004532797 RCV005895047

NM_058216.3(RAD51C):c.935G>A (p.Arg312Gln)

SNV
Germline

Chr17:58724070

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group O
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 3
Familial ovarian cancer
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA8677363

rs_779834376

9 SubmittersRCV000222506 RCV000505229 RCV001753654 RCV002290965 RCV005600827 RCV005251098

NM_007194.4(CHEK2):c.894T>G (p.Tyr298Ter)

SNV
Germline

Chr22:28703519

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Uterine corpus cancer
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Multiple Submitters
No Conflicts

CA10581066

rs_876659519

7 SubmittersRCV000215015 RCV000576520 RCV003128155 RCV005090100 RCV005246836

NM_000059.4(BRCA2):c.682-2A>G

SNV
Germline

Chr13:32330917

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Reviewed By Expert Panel

CA10581585

rs_878853287

6 SubmittersRCV000225520 RCV001188662 RCV001854790 RCV006259298

NM_007294.4(BRCA1):c.4576G>T (p.Glu1526Ter)

SNV
Germline

Chr17:43074430

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA10581598

rs_878853294

3 SubmittersRCV000225380 RCV002516249

NM_000251.3(MSH2):c.1638G>C (p.Lys546Asn)

SNV
Germline

Chr2:47466785

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10582016

rs_372350768

3 SubmittersRCV001030711 RCV001305491 RCV006406660

NM_001018115.3(FANCD2):c.1440T>C (p.His480=)

SNV
Germline

Chr3:10049400

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group D2
Condition: not provided
Hereditary breast ovarian cancer syndrome
not specified

Criteria Provided
Conflicting Classifications

CA2249667

rs_375412395

6 SubmittersRCV000234648 RCV001144941 RCV001557731 RCV002225530 RCV005434746

NM_000051.4(ATM):c.3614G>A (p.Arg1205His)

SNV
Germline

Chr11:108282747

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA6265325

rs_769106895

10 SubmittersRCV000227875 RCV000486877 RCV000569109 RCV001030527 RCV001818551 RCV005044471

NM_000059.4(BRCA2):c.316+13A>G

SNV
Germline

Chr13:32319338

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Fanconi anemia complementation group D1
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Breast-ovarian cancer, familial, susceptibility to, 2
Malignant tumor of breast

Criteria Provided
Conflicting Classifications

CA6940341

rs_773097109

10 SubmittersRCV000229296 RCV000378354 RCV000579746 RCV000586995 RCV000607980 RCV001094073 RCV001357840

NM_000059.4(BRCA2):c.632-13T>G

SNV
Germline

Chr13:32329430

Conflicting classifications of pathogenicity

Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified

Criteria Provided
Conflicting Classifications

CA6940419

rs_775947267

7 SubmittersRCV000588227 RCV000663299 RCV001083428 RCV001186865 RCV005238753

NM_000059.4(BRCA2):c.898G>A (p.Val300Ile)

SNV
Germline

Chr13:32332376

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Malignant tumor of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA10583070

rs_878853616

7 SubmittersRCV000226110 RCV000504390 RCV000567574 RCV002510825 RCV005418026

NM_000059.4(BRCA2):c.1021T>C (p.Cys341Arg)

SNV
Germline

Chr13:32332499

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
Breast and/or ovarian cancer
Breast-ovarian cancer, familial, susceptibility to, 2
Breast-ovarian cancer, familial, susceptibility to, 2
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA6940483

rs_55833327

13 SubmittersRCV000226133 RCV000443327 RCV000510111 RCV000732589 RCV003491993 RCV003998697 RCV005361373

NM_000059.4(BRCA2):c.1189C>T (p.Gln397Ter)

SNV
Germline

Chr13:32332667

Pathogenic

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Familial cancer of breast
Condition: not provided
Breast carcinoma
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA10583071

rs_760815829

8 SubmittersRCV000227783 RCV000240964 RCV000585716 RCV001284072 RCV001564014 RCV002347854

NM_000059.4(BRCA2):c.1204G>T (p.Gly402Cys)

SNV
Germline

Chr13:32332682

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified

Criteria Provided
Conflicting Classifications

CA10583072

rs_878853556

3 SubmittersRCV000233622 RCV003157472 RCV005238752

NM_000059.4(BRCA2):c.1282C>G (p.Leu428Val)

SNV
Germline

Chr13:32332760

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10583073

rs_547590567

5 SubmittersRCV000227331 RCV000583967 RCV000985463

NM_000059.4(BRCA2):c.1813A>T (p.Ile605Leu)

SNV
Germline

Chr13:32333291

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10583075

rs_878853557

3 SubmittersRCV000232350 RCV002408946

NM_000059.4(BRCA2):c.2077T>C (p.Cys693Arg)

SNV
Germline

Chr13:32336432

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA10583076

rs_878853558

7 SubmittersRCV000226849 RCV000565629 RCV000759587 RCV001175562

NM_000059.4(BRCA2):c.2095C>T (p.Gln699Ter)

SNV
Germline

Chr13:32336450

Pathogenic

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Breast neoplasm
Hereditary cancer-predisposing syndrome
Familial cancer of breast
BRCA2-related cancer predisposition

Reviewed By Expert Panel

CA10583077

rs_878853559

15 SubmittersRCV000229702 RCV000256526 RCV000482408 RCV000494713 RCV000510002 RCV003475054 RCV004804942

NM_000059.4(BRCA2):c.2239G>T (p.Glu747Ter)

SNV
Germline

Chr13:32336594

Pathogenic

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA10583079

rs_878853561

3 SubmittersRCV000229810 RCV000661458 RCV002429087

NM_000059.4(BRCA2):c.2257T>C (p.Phe753Leu)

SNV
Germline

Chr13:32336612

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10583080

rs_878853562

2 SubmittersRCV000232533 RCV003157473

NM_000059.4(BRCA2):c.2383T>A (p.Ser795Thr)

SNV
Germline

Chr13:32336738

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10583081

rs_878853563

3 SubmittersRCV000233344 RCV001775697 RCV003157474

NM_000059.4(BRCA2):c.2729A>G (p.His910Arg)

SNV
Germline

Chr13:32337084

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
not specified
Condition: not provided
Familial colorectal cancer type X
Familial pancreatic carcinoma

Criteria Provided
Conflicting Classifications

CA6940625

rs_760792501

7 SubmittersRCV000228411 RCV000509934 RCV000989017 RCV002282067 RCV006259303 RCV005361374

NM_000059.4(BRCA2):c.2787A>T (p.Leu929Phe)

SNV
Germline

Chr13:32337142

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10583084

rs_878853564

3 SubmittersRCV000233984 RCV003157475

NM_000059.4(BRCA2):c.2837A>T (p.Asp946Val)

SNV
Germline

Chr13:32337192

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10583085

rs_55972907

5 SubmittersRCV000226769 RCV002433944 RCV003998698 RCV004998503

NM_000059.4(BRCA2):c.3007C>G (p.His1003Asp)

SNV
Germline

Chr13:32337362

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified

Criteria Provided
Conflicting Classifications

CA10583086

rs_878853565

6 SubmittersRCV000229829 RCV000509749 RCV001731456

NM_000059.4(BRCA2):c.3329A>G (p.Glu1110Gly)

SNV
Germline

Chr13:32337684

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA6940689

rs_587782072

6 SubmittersRCV000233349 RCV000236778 RCV001019997

NM_000059.4(BRCA2):c.3484G>A (p.Ala1162Thr)

SNV
Germline

Chr13:32337839

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10583090

rs_878853570

4 SubmittersRCV000229011 RCV000583068

NM_000059.4(BRCA2):c.3583C>A (p.Leu1195Met)

SNV
Germline

Chr13:32337938

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA10583091

rs_878853571

4 SubmittersRCV000234717 RCV003157476 RCV005361375

NM_000059.4(BRCA2):c.3826G>C (p.Glu1276Gln)

SNV
Germline

Chr13:32338181

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10583095

rs_878853575

2 SubmittersRCV000231554 RCV003157477

NM_000059.4(BRCA2):c.3958G>A (p.Glu1320Lys)

SNV
Germline

Chr13:32338313

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10583097

rs_80358644

4 SubmittersRCV000231743 RCV000509619

NM_000059.4(BRCA2):c.4076C>T (p.Thr1359Ile)

SNV
Germline

Chr13:32338431

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA10583099

rs_878853578

7 SubmittersRCV000230157 RCV000759613 RCV000772157 RCV003998699

NM_000059.4(BRCA2):c.4127G>T (p.Gly1376Val)

SNV
Germline

Chr13:32338482

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6940752

rs_780458959

7 SubmittersRCV000233089 RCV000773181 RCV001788090 RCV004701304

NM_000059.4(BRCA2):c.4240A>G (p.Thr1414Ala)

SNV
Germline

Chr13:32338595

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
not specified
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10583102

rs_878853581

6 SubmittersRCV000228724 RCV000662562 RCV001818557 RCV003157478

NM_000059.4(BRCA2):c.4261T>C (p.Phe1421Leu)

SNV
Germline

Chr13:32338616

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10583103

rs_878853582

4 SubmittersRCV000231637 RCV000572245

NM_000059.4(BRCA2):c.4305T>G (p.Asn1435Lys)

SNV
Germline

Chr13:32338660

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10583104

rs_878853583

2 SubmittersRCV000228914 RCV003157479

NM_000059.4(BRCA2):c.4367A>C (p.Glu1456Ala)

SNV
Germline

Chr13:32338722

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10583105

rs_878853584

4 SubmittersRCV000231677 RCV001180477

NM_000059.4(BRCA2):c.4670C>T (p.Thr1557Ile)

SNV
Germline

Chr13:32339025

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast and/or ovarian cancer
not specified

Criteria Provided
Conflicting Classifications

CA10583106

rs_80358698

7 SubmittersRCV000233033 RCV000565644 RCV000735554 RCV001553616

NM_000059.4(BRCA2):c.4707C>A (p.Tyr1569Ter)

SNV
Germline

Chr13:32339062

Pathogenic

Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA10583107

rs_878853585

5 SubmittersRCV000227511 RCV000758897 RCV000661533 RCV004601134

NM_000059.4(BRCA2):c.4729G>C (p.Glu1577Gln)

SNV
Germline

Chr13:32339084

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10583109

rs_878853586

2 SubmittersRCV000233214 RCV003157480

NM_000059.4(BRCA2):c.5002G>C (p.Ala1668Pro)

SNV
Germline

Chr13:32339357

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10583110

rs_587782182

5 SubmittersRCV000233949 RCV000772343 RCV004767181

NM_000059.4(BRCA2):c.5103A>C (p.Gln1701His)

SNV
Germline

Chr13:32339458

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10583111

rs_878853587

2 SubmittersRCV000234682 RCV003157481

NM_000059.4(BRCA2):c.5115A>G (p.Ile1705Met)

SNV
Germline

Chr13:32339470

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
8 conditions

Criteria Provided
Conflicting Classifications

CA10583112

rs_878853588

7 SubmittersRCV000228444 RCV000571938 RCV003234775 RCV005008181

NM_000059.4(BRCA2):c.5312G>T (p.Gly1771Val)

SNV
Germline

Chr13:32339667

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast and/or ovarian cancer
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10583113

rs_80358755

6 SubmittersRCV000228622 RCV000580812 RCV000735563 RCV004591081

NM_000059.4(BRCA2):c.5538A>G (p.Ile1846Met)

SNV
Germline

Chr13:32339893

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10583115

rs_878853590

2 SubmittersRCV000225936 RCV003157482

NM_000059.4(BRCA2):c.5770A>G (p.Ile1924Val)

SNV
Germline

Chr13:32340125

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA6940901

rs_779020831

5 SubmittersRCV000230760 RCV002354630 RCV003477784 RCV004804943

NM_000059.4(BRCA2):c.5798A>G (p.Asn1933Ser)

SNV
Germline

Chr13:32340153

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10583116

rs_878853591

5 SubmittersRCV000234676 RCV001024537 RCV006259306

NM_000059.4(BRCA2):c.5924G>C (p.Cys1975Ser)

SNV
Germline

Chr13:32340279

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA6940912

rs_767378196

5 SubmittersRCV000226437 RCV001183818 RCV005361376

NM_000059.4(BRCA2):c.6214T>A (p.Ser2072Thr)

SNV
Germline

Chr13:32340569

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10583117

rs_878853594

3 SubmittersRCV000226156 RCV003157483

NM_000059.4(BRCA2):c.6411T>A (p.Asn2137Lys)

SNV
Germline

Chr13:32340766

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
not specified
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10583120

rs_878853597

5 SubmittersRCV000233748 RCV001194026 RCV002365171

NM_000059.4(BRCA2):c.6428C>A (p.Ser2143Ter)

SNV
Germline

Chr13:32340783

Pathogenic

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided

Reviewed By Expert Panel

CA10583121

rs_149330893

6 SubmittersRCV000230879 RCV000241501 RCV000573709 RCV001528507

NM_000059.4(BRCA2):c.6689T>C (p.Ile2230Thr)

SNV
Germline

Chr13:32341044

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10583122

rs_878853598

3 SubmittersRCV000232224 RCV003157484

NM_000059.4(BRCA2):c.7007+1G>A

SNV
Germline

Chr13:32346897

Pathogenic/Likely pathogenic

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA10583124

rs_397507891

3 SubmittersRCV000232637 RCV001184077 RCV001800585

NM_000059.4(BRCA2):c.7478T>G (p.Met2493Arg)

SNV
Germline

Chr13:32356470

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
BRCA2-related disorder

Criteria Provided
Conflicting Classifications

CA10583131

rs_863224597

6 SubmittersRCV000231954 RCV000238726 RCV001026480 RCV003475055 RCV004998504 RCV004732804

NM_000059.4(BRCA2):c.7630G>C (p.Gly2544Arg)

SNV
Germline

Chr13:32357754

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA10583133

rs_587781485

7 SubmittersRCV000225896 RCV000580094 RCV001199884 RCV003235150 RCV003998701

NM_000059.4(BRCA2):c.8191C>G (p.Gln2731Glu)

SNV
Germline

Chr13:32363393

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10583138

rs_397507966

7 SubmittersRCV000225930 RCV002429088 RCV004567706 RCV005603613

NM_000059.4(BRCA2):c.8253T>G (p.Ile2751Met)

SNV
Germline

Chr13:32363455

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10583140

rs_757501907

4 SubmittersRCV000228771 RCV000569622 RCV003998702 RCV004719778

NM_000059.4(BRCA2):c.8365T>C (p.Tyr2789His)

SNV
Germline

Chr13:32370435

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10583141

rs_878853609

3 SubmittersRCV000232896 RCV003228916 RCV004020740

NM_000059.4(BRCA2):c.8881G>A (p.Gly2961Ser)

SNV
Germline

Chr13:32379443

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Breast carcinoma
Familial cancer of breast
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA10583147

rs_878853614

8 SubmittersRCV000228865 RCV000564860 RCV000589058 RCV001564015 RCV004567707 RCV005361377

NM_024675.4(PALB2):c.2509G>T (p.Glu837Ter)

SNV
Germline

Chr16:23629645

Pathogenic

Familial cancer of breast
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Pancreatic cancer, susceptibility to, 3

Criteria Provided
Multiple Submitters
No Conflicts

CA10583361

rs_587778587

8 SubmittersRCV000227927 RCV000235331 RCV000454198 RCV001193462 RCV001030314

NM_032444.4(SLX4):c.421G>T (p.Gly141Trp)

SNV
Germline

Chr16:3608544

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group P
Fanconi anemia complementation group A
Malignant tumor of breast
not specified
Condition: not provided
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA7866881

rs_137976282

14 SubmittersRCV000233422 RCV000764068 RCV000989506 RCV001005038 RCV001194829 RCV001570886 RCV006450094

NM_001042492.3(NF1):c.4426C>T (p.Arg1476Cys)

SNV
Germline

Chr17:31259125

Conflicting classifications of pathogenicity

Neurofibromatosis, type 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Cardiovascular phenotype
Café-au-lait macules with pulmonary stenosis
Neurofibromatosis, familial spinal
Juvenile myelomonocytic leukemia
Neurofibromatosis, type 1
Neurofibromatosis-Noonan syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8486403

rs_771420960

7 SubmittersRCV000229500 RCV001030576 RCV002318967 RCV002500756 RCV004721311

NM_007294.4(BRCA1):c.5425G>A (p.Val1809Ile)

SNV
Germline

Chr17:43047685

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
not specified

Criteria Provided
Conflicting Classifications

CA10583546

rs_28897698

6 SubmittersRCV000230445 RCV001072911 RCV002347900 RCV005238768

NM_007294.4(BRCA1):c.5383C>T (p.Leu1795Phe)

SNV
Germline

Chr17:43049144

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10583547

rs_878854958

5 SubmittersRCV000227535 RCV000662828 RCV003278713

NM_007294.4(BRCA1):c.5332+3A>G

SNV
Germline

Chr17:43051060

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA054542

rs_766614917

7 SubmittersRCV000230839 RCV000480020 RCV000573381 RCV000662380

NM_007294.4(BRCA1):c.5242G>C (p.Gly1748Arg)

SNV
Germline

Chr17:43057087

Likely pathogenic

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA10583548

rs_397507245

4 SubmittersRCV000226938 RCV000989869 RCV001023794

NM_007294.4(BRCA1):c.5161C>G (p.Gln1721Glu)

SNV
Germline

Chr17:43063365

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
not specified

Criteria Provided
Conflicting Classifications

CA10583549

rs_878854957

7 SubmittersRCV000233032 RCV000572903 RCV001076516 RCV005238767

NM_007294.4(BRCA1):c.4987-2A>C

SNV
Germline

Chr17:43067697

Pathogenic/Likely pathogenic

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Multiple Submitters
No Conflicts

CA10583555

rs_397509212

3 SubmittersRCV000226415 RCV001023367 RCV001072941

NM_007294.4(BRCA1):c.4370C>A (p.Ser1457Ter)

SNV
Germline

Chr17:43076602

Pathogenic

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided

Reviewed By Expert Panel

CA10583560

rs_80357130

4 SubmittersRCV000225938 RCV000509730 RCV000661156 RCV002266938

NM_007294.4(BRCA1):c.4186-2A>G

SNV
Germline

Chr17:43082577

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10583563

rs_878854950

4 SubmittersRCV000231953 RCV002291607 RCV002327137

NM_007294.4(BRCA1):c.3893C>G (p.Ser1298Ter)

SNV
Germline

Chr17:43091638

Pathogenic

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1

Reviewed By Expert Panel

CA10583564

rs_80357440

2 SubmittersRCV000228438 RCV000661138

NM_007294.4(BRCA1):c.3737C>A (p.Thr1246Asn)

SNV
Germline

Chr17:43091794

Conflicting classifications of pathogenicity

Malignant tumor of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Pancreatic cancer, susceptibility to, 4
Fanconi anemia, complementation group S

Criteria Provided
Conflicting Classifications

CA10583565

rs_878854949

9 SubmittersRCV000502901 RCV000573048 RCV000588711 RCV001084868 RCV005016641

NM_007294.4(BRCA1):c.3572G>A (p.Ser1191Asn)

SNV
Germline

Chr17:43091959

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10583566

rs_878854948

4 SubmittersRCV000233599 RCV000772341

NM_007294.4(BRCA1):c.3518G>A (p.Ser1173Asn)

SNV
Germline

Chr17:43092013

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified

Criteria Provided
Conflicting Classifications

CA059409

rs_746949187

5 SubmittersRCV000229683 RCV001020500 RCV005230161

NM_007294.4(BRCA1):c.3403C>G (p.Gln1135Glu)

SNV
Germline

Chr17:43092128

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Familial cancer of breast
Pancreatic cancer, susceptibility to, 4
Fanconi anemia, complementation group S

Criteria Provided
Conflicting Classifications

CA057887

rs_80357136

6 SubmittersRCV000226768 RCV000484753 RCV000568567 RCV000764119

NM_007294.4(BRCA1):c.3217G>A (p.Gly1073Ser)

SNV
Germline

Chr17:43092314

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10583567

rs_878854945

3 SubmittersRCV000234408 RCV003157485

NM_007294.4(BRCA1):c.3126C>G (p.Ser1042Arg)

SNV
Germline

Chr17:43092405

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10583568

rs_878854943

3 SubmittersRCV000228849 RCV002321882

NM_007294.4(BRCA1):c.3113A>C (p.Glu1038Ala)

SNV
Germline

Chr17:43092418

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
not specified
Hereditary cancer-predisposing syndrome
Breast and/or ovarian cancer
Malignant tumor of breast
Condition: not provided
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA10583569

rs_16941

9 SubmittersRCV000233884 RCV000500860 RCV000562497 RCV000735473 RCV001353949 RCV001726066 RCV003607273

NM_007294.4(BRCA1):c.2959A>G (p.Lys987Glu)

SNV
Germline

Chr17:43092572

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA10583570

rs_878854941

6 SubmittersRCV000230349 RCV000509909 RCV000779897 RCV003998881

NM_007294.4(BRCA1):c.2258G>A (p.Ser753Asn)

SNV
Germline

Chr17:43093273

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10583572

rs_878854939

6 SubmittersRCV000229310 RCV000772153 RCV003477832

NM_007294.4(BRCA1):c.2245G>A (p.Asp749Asn)

SNV
Germline

Chr17:43093286

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10583573

rs_80357114

4 SubmittersRCV000226603 RCV001525772

NM_007294.4(BRCA1):c.1355T>C (p.Val452Ala)

SNV
Germline

Chr17:43094176

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10583580

rs_878854932

5 SubmittersRCV000232566 RCV001184076 RCV004999155

NM_007294.4(BRCA1):c.1155G>T (p.Trp385Cys)

SNV
Germline

Chr17:43094376

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10583581

rs_876660558

7 SubmittersRCV000226202 RCV000509631 RCV000781000 RCV003114399

NM_007294.4(BRCA1):c.1099A>G (p.Thr367Ala)

SNV
Germline

Chr17:43094432

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10583583

rs_878854929

6 SubmittersRCV000228518 RCV001177149 RCV003607272 RCV004597765

NM_007294.4(BRCA1):c.923G>A (p.Ser308Asn)

SNV
Germline

Chr17:43094608

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10583584

rs_561998108

2 SubmittersRCV000228952 RCV003157486

NM_007294.4(BRCA1):c.902A>G (p.Lys301Arg)

SNV
Germline

Chr17:43094629

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
not specified

Criteria Provided
Conflicting Classifications

CA10583585

rs_878854965

7 SubmittersRCV000233964 RCV000486097 RCV001188181 RCV006452532

NM_007294.4(BRCA1):c.577A>G (p.Lys193Glu)

SNV
Germline

Chr17:43097260

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified

Criteria Provided
Conflicting Classifications

CA10583589

rs_878854962

4 SubmittersRCV000231811 RCV001184073 RCV002247679

NM_058216.3(RAD51C):c.258A>T (p.Thr86=)

SNV
Germline

Chr17:58695043

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Fanconi anemia complementation group O
Hereditary breast ovarian cancer syndrome
RAD51C-related disorder
Breast-ovarian cancer, familial, susceptibility to, 3

Criteria Provided
Conflicting Classifications

CA8677188

rs_149228565

8 SubmittersRCV000575965 RCV000766483 RCV001087739 RCV003315240 RCV004532968 RCV005420926

NM_058216.3(RAD51C):c.719T>C (p.Ile240Thr)

SNV
Germline

Chr17:58709872

Conflicting classifications of pathogenicity

Fanconi anemia complementation group O
Breast-ovarian cancer, familial, susceptibility to, 3
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Fanconi anemia complementation group O
Breast-ovarian cancer, familial, susceptibility to, 3

Criteria Provided
Conflicting Classifications

CA8677324

rs_539341386

10 SubmittersRCV000234057 RCV000409453 RCV000573418 RCV000709510 RCV001770208 RCV002500818

NM_058216.3(RAD51C):c.837+1G>T

SNV
Germline

Chr17:58709991

Pathogenic/Likely pathogenic

Fanconi anemia complementation group O
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 3
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 3
Fanconi anemia complementation group O

Criteria Provided
Multiple Submitters
No Conflicts

CA10583607

rs_760235677

7 SubmittersRCV000226369 RCV000481912 RCV000409098 RCV003317171 RCV003298308 RCV005016643

NM_032043.3(BRIP1):c.1941G>C (p.Trp647Cys)

SNV
Germline

Chr17:61776557

Conflicting classifications of pathogenicity

Familial cancer of breast
Fanconi anemia complementation group J
Condition: not provided
Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group J
Familial cancer of breast
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10583627

rs_786202760

9 SubmittersRCV000226066 RCV000481541 RCV000582028 RCV000709542 RCV000990006 RCV003482141

NM_000546.6(TP53):c.845G>A (p.Arg282Gln)

SNV
Germline

Chr17:7673775

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
Li-Fraumeni syndrome 1
Malignant tumor of breast
Adrenocortical carcinoma, hereditary
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10575441

rs_730882008

14 SubmittersRCV000226273 RCV000235474 RCV000492420 RCV000767028 RCV000709768 RCV001357626 RCV003463657 RCV003483584

NM_007194.4(CHEK2):c.683+1G>A

SNV
Germline/somatic

Chr22:28719394

Likely pathogenic

Familial cancer of breast
Hereditary cancer-predisposing syndrome
CHEK2-related cancer predisposition
Neoplasm
Hereditary breast ovarian cancer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA10583911

rs_786203650

7 SubmittersRCV000229878 RCV000571803 RCV003333745 RCV004668868 RCV005406979

NM_000465.4(BARD1):c.1811-1G>A

SNV
Germline

Chr2:214745160

Likely pathogenic

Condition: not provided
Familial cancer of breast
Hereditary breast ovarian cancer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA10584173

rs_879253952

4 SubmittersRCV000236120 RCV001854853 RCV004764783

NM_000465.4(BARD1):c.764A>G (p.Asn255Ser)

SNV
Germline

Chr2:214781110

Conflicting classifications of pathogenicity

Condition: not provided
Familial cancer of breast
Hereditary cancer-predisposing syndrome
not specified
Malignant tumor of breast
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA2090382

rs_138904906

12 SubmittersRCV000236599 RCV000529895 RCV000573274 RCV000780946 RCV001357269 RCV002225531

NM_000465.4(BARD1):c.159-1G>T

SNV
Germline

Chr2:214797118

Pathogenic/Likely pathogenic

Condition: not provided
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA10584184

rs_879254139

14 SubmittersRCV000235953 RCV000552182 RCV000565922 RCV000587901

NM_000051.4(ATM):c.6554T>C (p.Ile2185Thr)

SNV
Germline

Chr11:108321402

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
not specified
Ataxia-telangiectasia syndrome
Familial cancer of breast
Familial cancer of breast
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA6265969

rs_779611511

12 SubmittersRCV000236528 RCV000571895 RCV000686103 RCV002465602 RCV002494680 RCV003469189 RCV006450098

NM_000059.4(BRCA2):c.3098A>T (p.Asp1033Val)

SNV
Germline

Chr13:32337453

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA6940666

rs_141702094

6 SubmittersRCV000236981 RCV000474695 RCV000570313

NM_000059.4(BRCA2):c.3417G>T (p.Lys1139Asn)

SNV
Germline

Chr13:32337772

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10584442

rs_145625991

6 SubmittersRCV000235818 RCV000823718 RCV002450731

NM_000059.4(BRCA2):c.3970T>C (p.Tyr1324His)

SNV
Germline

Chr13:32338325

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10584444

rs_879254067

6 SubmittersRCV000236632 RCV001021558 RCV001582797 RCV005090192

NM_000059.4(BRCA2):c.4835C>T (p.Pro1612Leu)

SNV
Germline

Chr13:32339190

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA6940820

rs_764834875

5 SubmittersRCV000235387 RCV001023129 RCV000813798

NM_000059.4(BRCA2):c.4927G>A (p.Val1643Ile)

SNV
Germline

Chr13:32339282

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA10584447

rs_879254182

7 SubmittersRCV000235874 RCV000572029 RCV000701658 RCV004804959

NM_000059.4(BRCA2):c.6418G>A (p.Gly2140Ser)

SNV
Germline

Chr13:32340773

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10584449

rs_879254137

4 SubmittersRCV000236609 RCV000531040 RCV003157491

NM_000059.4(BRCA2):c.7617+1G>C

SNV
Germline

Chr13:32356610

Pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA10584451

rs_397507922

6 SubmittersRCV000235926 RCV002392733 RCV002298554

NM_007294.4(BRCA1):c.5327C>A (p.Pro1776His)

SNV
Germline

Chr17:43051068

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Malignant tumor of breast
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10584546

rs_398122695

8 SubmittersRCV000236047 RCV000569030 RCV000695187 RCV001072702 RCV001353630 RCV003477845

NM_007294.4(BRCA1):c.5155G>T (p.Val1719Leu)

SNV
Germline

Chr17:43063371

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA054068

rs_749465132

7 SubmittersRCV000236215 RCV001023635 RCV001041311 RCV001076110

NM_007294.4(BRCA1):c.4951T>C (p.Ser1651Pro)

SNV
Germline

Chr17:43070963

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10584551

rs_879254042

7 SubmittersRCV000586097 RCV000574641 RCV001073191 RCV005638472

NM_007294.4(BRCA1):c.4485-1G>T

SNV
Germline

Chr17:43074522

Pathogenic

Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA10584553

rs_80358189

7 SubmittersRCV000236333 RCV000258158 RCV000506333 RCV002327167

NM_007294.4(BRCA1):c.4484G>C (p.Arg1495Thr)

SNV
Germline

Chr17:43076488

Pathogenic

Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA10584554

rs_80357389

5 SubmittersRCV000236135 RCV000258262 RCV000580649 RCV001231407

NM_007294.4(BRCA1):c.4055A>T (p.Glu1352Val)

SNV
Germline

Chr17:43091476

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
not specified

Criteria Provided
Conflicting Classifications

CA10584558

rs_879254228

8 SubmittersRCV000235734 RCV000637763 RCV003157493 RCV003998925 RCV003987475

NM_007294.4(BRCA1):c.3893C>T (p.Ser1298Leu)

SNV
Germline

Chr17:43091638

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA059120

rs_80357440

5 SubmittersRCV000235595 RCV001294914 RCV003157488 RCV003998910

NM_007294.4(BRCA1):c.3752G>A (p.Cys1251Tyr)

SNV
Germline

Chr17:43091779

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10584559

rs_879254079

4 SubmittersRCV000236428 RCV003157490 RCV002519825

NM_007294.4(BRCA1):c.3675C>A (p.Cys1225Ter)

SNV
Germline

Chr17:43091856

Pathogenic

Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA10584560

rs_879254023

8 SubmittersRCV000236531 RCV000239174 RCV000580011 RCV001383771

NM_007294.4(BRCA1):c.3250C>A (p.Leu1084Ile)

SNV
Germline

Chr17:43092281

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10584561

rs_879254009

5 SubmittersRCV000236406 RCV000531493 RCV001180869

NM_007294.4(BRCA1):c.3206A>C (p.Gln1069Pro)

SNV
Germline

Chr17:43092325

Conflicting classifications of pathogenicity

not specified
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10584562

rs_879254151

4 SubmittersRCV000236650 RCV000464400 RCV003157492

NM_007294.4(BRCA1):c.2897T>C (p.Ile966Thr)

SNV
Germline

Chr17:43092634

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10584563

rs_879254045

6 SubmittersRCV000566390 RCV000759511 RCV000779905 RCV000792554

NM_007294.4(BRCA1):c.2890G>A (p.Gly964Arg)

SNV
Germline

Chr17:43092641

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10584564

rs_879254027

4 SubmittersRCV000235230 RCV001854861 RCV002436057

NM_007294.4(BRCA1):c.2882A>G (p.Asn961Ser)

SNV
Germline

Chr17:43092649

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Malignant tumor of breast

Criteria Provided
Conflicting Classifications

CA10584565

rs_879254130

7 SubmittersRCV000235761 RCV000575733 RCV000701306 RCV001257493 RCV001357957

NM_007294.4(BRCA1):c.2644T>A (p.Cys882Ser)

SNV
Germline

Chr17:43092887

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA058394

rs_184374817

8 SubmittersRCV000236090 RCV000779895 RCV001016199 RCV001373592 RCV003998909

NM_007294.4(BRCA1):c.1709C>A (p.Pro570Gln)

SNV
Germline

Chr17:43093822

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
BRCA1-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA10584570

rs_879254020

8 SubmittersRCV000524967 RCV000771381 RCV000759496 RCV001797692 RCV004804957

NM_007294.4(BRCA1):c.1574T>C (p.Val525Ala)

SNV
Germline

Chr17:43093957

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10584571

rs_879253902

5 SubmittersRCV000236949 RCV001193189 RCV001362691 RCV002401917

NM_007294.4(BRCA1):c.1374C>A (p.Asp458Glu)

SNV
Germline

Chr17:43094157

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10584573

rs_879253999

3 SubmittersRCV000235286 RCV003157487 RCV003644946

NM_007294.4(BRCA1):c.1228G>A (p.Ala410Thr)

SNV
Germline

Chr17:43094303

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA057104

rs_779974365

7 SubmittersRCV000236916 RCV000567869 RCV000810492 RCV000766408 RCV004591095

NM_007294.4(BRCA1):c.548-15G>A

SNV
Germline

Chr17:43097304

Conflicting classifications of pathogenicity

Malignant tumor of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA056405

rs_755221482

4 SubmittersRCV000236859 RCV000580004 RCV000656994 RCV001415373

NM_007294.4(BRCA1):c.301+1G>T

SNV
Germline

Chr17:43104867

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA055557

rs_587782173

6 SubmittersRCV000236488 RCV000509943 RCV000802430 RCV001077814

NM_007294.4(BRCA1):c.135-1G>A

SNV
Germline

Chr17:43106534

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Multiple Submitters
No Conflicts

CA10584576

rs_80358158

6 SubmittersRCV000235787 RCV000581081 RCV000705986 RCV001075911

NM_007294.4(BRCA1):c.32T>G (p.Val11Gly)

SNV
Germline

Chr17:43124065

Likely pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
BRCA1-related cancer predisposition

Reviewed By Expert Panel

CA10584577

rs_80357017

6 SubmittersRCV000236530 RCV000509835 RCV000792051 RCV001072350 RCV006259347

NM_007294.4(BRCA1):c.22G>A (p.Val8Ile)

SNV
Germline

Chr17:43124075

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
not specified

Criteria Provided
Conflicting Classifications

CA055451

rs_528902306

7 SubmittersRCV000573882 RCV000589934 RCV000816431 RCV001072330 RCV005406982

NM_000059.4(BRCA2):c.-41G>A

SNV
Germline

Chr13:32315666

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
not specified
Hereditary breast ovarian cancer syndrome
BRCA2-related disorder
Hereditary cancer

Criteria Provided
Conflicting Classifications

CA10585889

rs_879255312

5 SubmittersRCV000238620 RCV000444557 RCV000709283 RCV004535204 RCV005235206

NM_000059.4(BRCA2):c.889G>T (p.Glu297Ter)

SNV
Germline

Chr13:32332367

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA10585891

rs_879255298

4 SubmittersRCV000239093 RCV002374406 RCV001260440

NM_000059.4(BRCA2):c.1002T>G (p.His334Gln)

SNV
Germline

Chr13:32332480

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA6940482

rs_544942885

10 SubmittersRCV000239056 RCV000463547 RCV000509997 RCV002229695 RCV004701343 RCV004804961

NM_000059.4(BRCA2):c.1574C>G (p.Thr525Ser)

SNV
Germline

Chr13:32333052

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
not specified

Criteria Provided
Conflicting Classifications

CA6940526

rs_397507271

7 SubmittersRCV000509790 RCV000759576 RCV001056849 RCV005238791

NM_000059.4(BRCA2):c.3883C>T (p.Gln1295Ter)

SNV
Germline

Chr13:32338238

Pathogenic

Condition: not provided
Hereditary breast ovarian cancer syndrome
Breast neoplasm
Breast-ovarian cancer, familial, susceptibility to, 2
Breast cancer, susceptibility to
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA10585895

rs_879255309

7 SubmittersRCV000239260 RCV000496728 RCV000504604 RCV000661418 RCV000656471 RCV001021351

NM_000059.4(BRCA2):c.4425G>A (p.Met1475Ile)

SNV
Germline

Chr13:32338780

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10585896

rs_879255301

3 SubmittersRCV000238644 RCV001208749 RCV003157495

NM_000059.4(BRCA2):c.5191C>T (p.His1731Tyr)

SNV
Germline

Chr13:32339546

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6940854

rs_80358745

7 SubmittersRCV000239258 RCV000566864 RCV000637528 RCV001192484 RCV003477859

NM_000059.4(BRCA2):c.6792G>C (p.Leu2264Phe)

SNV
Germline

Chr13:32341147

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
not specified
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA6940984

rs_756182263

5 SubmittersRCV000239333 RCV001358732 RCV001854914 RCV002365248

NM_000059.4(BRCA2):c.7822C>G (p.Pro2608Ala)

SNV
Germline

Chr13:32362539

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
BRCA2-related disorder
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA10585900

rs_879255308

9 SubmittersRCV000239253 RCV000474942 RCV000567257 RCV000985252 RCV003230466 RCV004535203 RCV004567796

NM_000059.4(BRCA2):c.8702G>T (p.Gly2901Val)

SNV
Germline

Chr13:32376739

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA10585901

rs_80359129

5 SubmittersRCV000238663 RCV000637407 RCV000759677 RCV001018206 RCV003475845

NM_000059.4(BRCA2):c.9118-5T>C

SNV
Germline

Chr13:32380002

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10585902

rs_879255299

2 SubmittersRCV000239331 RCV002518504

NM_007294.4(BRCA1):c.5075-2A>G

SNV
Germline

Chr17:43063953

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA10585907

rs_80358066

5 SubmittersRCV000238796 RCV001854913 RCV005318353

NM_007294.4(BRCA1):c.4675+2T>G

SNV
Germline

Chr17:43074329

Pathogenic/Likely pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA10585910

rs_879255293

4 SubmittersRCV000239340 RCV001389864 RCV003327390 RCV006362168

NM_007294.4(BRCA1):c.3292C>T (p.Leu1098Phe)

SNV
Germline

Chr17:43092239

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10585916

rs_879255291

3 SubmittersRCV003157494 RCV006555719 RCV006259358

NM_007294.4(BRCA1):c.1842G>T (p.Lys614Asn)

SNV
Germline

Chr17:43093689

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
BRCA1-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA057570

rs_760109939

8 SubmittersRCV000486968 RCV000572707 RCV000637399 RCV001193715 RCV004804960

NM_007294.4(BRCA1):c.1075C>T (p.Pro359Ser)

SNV
Germline

Chr17:43094456

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified

Criteria Provided
Conflicting Classifications

CA057022

rs_767666190

8 SubmittersRCV000238881 RCV000460505 RCV000565590 RCV005406990

NM_007294.4(BRCA1):c.812T>G (p.Val271Gly)

SNV
Germline

Chr17:43094719

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA056758

rs_753099787

4 SubmittersRCV000238634 RCV000564083 RCV003644947

NM_007294.4(BRCA1):c.742A>C (p.Thr248Pro)

SNV
Germline

Chr17:43094789

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Malignant tumor of breast

Criteria Provided
Conflicting Classifications

CA10585918

rs_879255288

8 SubmittersRCV000238739 RCV000573207 RCV000794112 RCV001357655

NM_007294.4(BRCA1):c.302-7T>A

SNV
Germline

Chr17:43104268

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10585920

rs_879255286

2 SubmittersRCV000239060 RCV006462228

NM_007294.4(BRCA1):c.169G>C (p.Gly57Arg)

SNV
Germline

Chr17:43106499

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10585922

rs_879255289

5 SubmittersRCV000239334 RCV000572082 RCV003644948

NM_007294.4(BRCA1):c.118G>A (p.Asp40Asn)

SNV
Germline

Chr17:43115742

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10585923

rs_879255290

8 SubmittersRCV000238995 RCV001344583 RCV002338789

NM_000059.4(BRCA2):c.1588A>T (p.Lys530Ter)

SNV
Germline

Chr13:32333066

Pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA10585929

rs_879255325

5 SubmittersRCV000239040 RCV000584727 RCV000661871 RCV001380086

NM_007294.4(BRCA1):c.2983A>T (p.Lys995Ter)

SNV
Germline

Chr17:43092548

Pathogenic

Condition: not provided
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1

Reviewed By Expert Panel

CA10585940

rs_879255315

4 SubmittersRCV000238695 RCV000496586 RCV000661078

NM_007294.4(BRCA1):c.679G>T (p.Glu227Ter)

SNV
Germline

Chr17:43094852

Pathogenic

not specified
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA10585944

rs_879255319

5 SubmittersRCV000238591 RCV000574782 RCV000661105 RCV000709490

NM_000059.4(BRCA2):c.9319A>G (p.Ile3107Val)

SNV
Germline

Chr13:32394751

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
not specified

Criteria Provided
Conflicting Classifications

CA10586015

rs_879255336

7 SubmittersRCV000238638 RCV000985623 RCV001019164 RCV002265709

NM_000059.4(BRCA2):c.1837C>G (p.Leu613Val)

SNV
Germline

Chr13:32333315

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10586052

rs_879255438

5 SubmittersRCV000239012 RCV001050117 RCV002411108

NM_000059.4(BRCA2):c.2256C>A (p.Asp752Glu)

SNV
Germline

Chr13:32336611

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10586057

rs_766384913

3 SubmittersRCV000238854 RCV000796342 RCV003157498

NM_000059.4(BRCA2):c.2282A>C (p.Tyr761Ser)

SNV
Germline

Chr13:32336637

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10586058

rs_879255443

6 SubmittersRCV000239075 RCV000700897 RCV001185107 RCV004999178

NM_000059.4(BRCA2):c.2323T>A (p.Ser775Thr)

SNV
Germline

Chr13:32336678

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified

Criteria Provided
Conflicting Classifications

CA10586059

rs_879255444

6 SubmittersRCV000238606 RCV001035942 RCV002450756 RCV004782328

NM_000059.4(BRCA2):c.2554A>C (p.Asn852His)

SNV
Germline

Chr13:32336909

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
not specified
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
BRCA2-related cancer predisposition
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6940612

rs_775531301

10 SubmittersRCV000239170 RCV000508576 RCV000771292 RCV000794988 RCV004804966 RCV004999179

NM_000059.4(BRCA2):c.2606C>G (p.Ser869Ter)

SNV
Germline

Chr13:32336961

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified
Familial cancer of breast
Condition: not provided

Reviewed By Expert Panel

CA10586061

rs_80358523

10 SubmittersRCV000238628 RCV000459261 RCV000572852 RCV001800616 RCV003475847 RCV003313063

NM_000059.4(BRCA2):c.2795A>T (p.Asp932Val)

SNV
Germline

Chr13:32337150

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome
Condition: not provided
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA10586063

rs_879255447

7 SubmittersRCV000239185 RCV001016622 RCV005238792 RCV000813921 RCV004772886 RCV005361485

NM_000059.4(BRCA2):c.3197A>G (p.Asn1066Ser)

SNV
Germline

Chr13:32337552

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Familial cancer of breast
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA6940676

rs_762752733

10 SubmittersRCV000238713 RCV000536197 RCV000568492 RCV000781090 RCV000985495 RCV002250606 RCV004804967

NM_000059.4(BRCA2):c.3330A>C (p.Glu1110Asp)

SNV
Germline

Chr13:32337685

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
not specified
Fanconi anemia complementation group D1
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA6940690

rs_369294255

12 SubmittersRCV000239030 RCV000580365 RCV000758882 RCV000816307 RCV001260303 RCV005429008

NM_000059.4(BRCA2):c.3344C>G (p.Ser1115Cys)

SNV
Germline

Chr13:32337699

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified

Criteria Provided
Conflicting Classifications

CA10586064

rs_879255448

7 SubmittersRCV000239210 RCV000572645 RCV000637640 RCV000781124

NM_000059.4(BRCA2):c.3964A>G (p.Asn1322Asp)

SNV
Germline

Chr13:32338319

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
not specified
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10586065

rs_879255449

6 SubmittersRCV000238737 RCV000542739 RCV001375530 RCV001800617 RCV003157499

NM_000059.4(BRCA2):c.4568G>T (p.Gly1523Val)

SNV
Germline

Chr13:32338923

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10586067

rs_879255451

6 SubmittersRCV000239353 RCV000478902 RCV000690856 RCV002338791

NM_000059.4(BRCA2):c.4885A>G (p.Thr1629Ala)

SNV
Germline

Chr13:32339240

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10586071

rs_879255455

6 SubmittersRCV000238790 RCV000582227 RCV000792720 RCV006259360

NM_000059.4(BRCA2):c.6062A>T (p.His2021Leu)

SNV
Germline

Chr13:32340417

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6940926

rs_780621780

5 SubmittersRCV000238902 RCV002356337 RCV002298556 RCV006450103

NM_000059.4(BRCA2):c.7349A>T (p.Asn2450Ile)

SNV
Germline

Chr13:32355202

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA6941083

rs_761505767

7 SubmittersRCV000238922 RCV000773097 RCV000804173 RCV002265710 RCV004567797

NM_000059.4(BRCA2):c.734G>C (p.Arg245Thr)

SNV
Germline

Chr13:32330971

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10586077

rs_879255462

4 SubmittersRCV000239222 RCV001854927 RCV004948235

NM_000059.4(BRCA2):c.7660A>G (p.Ser2554Gly)

SNV
Germline

Chr13:32357784

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
not specified
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10586079

rs_879255464

6 SubmittersRCV000238966 RCV000798016 RCV004800363 RCV000567399 RCV003320622

NM_000059.4(BRCA2):c.7883T>C (p.Ile2628Thr)

SNV
Germline

Chr13:32362600

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10586080

rs_879255465

7 SubmittersRCV000238761 RCV000637454 RCV000758955 RCV001026911

NM_000059.4(BRCA2):c.8180C>G (p.Ala2727Gly)

SNV
Germline

Chr13:32363382

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10586083

rs_879255468

6 SubmittersRCV000238976 RCV000469799 RCV000483895 RCV000565073

NM_000059.4(BRCA2):c.9073A>G (p.Ile3025Val)

SNV
Germline

Chr13:32379869

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
not specified
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA10586085

rs_879255470

8 SubmittersRCV000238820 RCV000463078 RCV000779983 RCV001181419 RCV005861095

NM_000059.4(BRCA2):c.9111A>T (p.Gln3037His)

SNV
Germline

Chr13:32379907

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10586086

rs_200814465

5 SubmittersRCV000239094 RCV000696962 RCV001283946 RCV001191885

NM_000059.4(BRCA2):c.9285C>A (p.Asp3095Glu)

SNV
Germline

Chr13:32394717

Pathogenic/Likely pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA10586089

rs_80359198

5 SubmittersRCV000239130 RCV000812850 RCV001175898 RCV003475848

NM_000059.4(BRCA2):c.966A>C (p.Lys322Asn)

SNV
Germline

Chr13:32332444

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10586090

rs_879255473

4 SubmittersRCV000238647 RCV000808300 RCV003157500

NM_007294.4(BRCA1):c.142A>G (p.Met48Val)

SNV
Germline

Chr17:43106526

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
not specified

Criteria Provided
Conflicting Classifications

CA10586094

rs_879255477

4 SubmittersRCV000238947 RCV004017568 RCV003493552

NM_007294.4(BRCA1):c.1460T>C (p.Val487Ala)

SNV
Germline

Chr17:43094071

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10586095

rs_748812609

4 SubmittersRCV000239177 RCV003157501 RCV003644949

NM_007294.4(BRCA1):c.1514A>T (p.Lys505Ile)

SNV
Germline

Chr17:43094017

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10586096

rs_879254266

4 SubmittersRCV000238702 RCV000792368 RCV002392751

NM_007294.4(BRCA1):c.3048T>G (p.Asn1016Lys)

SNV
Germline

Chr17:43092483

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
BRCA1-related cancer predisposition
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10586101

rs_879255482

10 SubmittersRCV000239297 RCV000456804 RCV004804968 RCV004999180 RCV000771382

NM_007294.4(BRCA1):c.3564G>C (p.Arg1188Ser)

SNV
Germline

Chr17:43091967

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10586104

rs_879255484

5 SubmittersRCV000239332 RCV000824174 RCV001183808

NM_007294.4(BRCA1):c.3720G>C (p.Gln1240His)

SNV
Germline

Chr17:43091811

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10586105

rs_876658341

4 SubmittersRCV000238841 RCV000554999 RCV002347944

NM_007294.4(BRCA1):c.403A>T (p.Lys135Ter)

SNV
Germline

Chr17:43104160

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA10586106

rs_879255485

6 SubmittersRCV000239031 RCV000496796 RCV004609332

NM_007294.4(BRCA1):c.4273C>T (p.Pro1425Ser)

SNV
Germline

Chr17:43082488

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Familial cancer of breast
Condition: not provided

Criteria Provided
Conflicting Classifications

CA059807

rs_768327850

7 SubmittersRCV000238679 RCV000584619 RCV001352318 RCV003607278 RCV004999181

NM_007294.4(BRCA1):c.5050A>C (p.Thr1684Pro)

SNV
Germline

Chr17:43067632

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10586111

rs_879255491

4 SubmittersRCV000238607 RCV003530017 RCV004948236

NM_007294.4(BRCA1):c.5107T>G (p.Tyr1703Asp)

SNV
Germline

Chr17:43063919

Likely pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA10586112

rs_863224763

4 SubmittersRCV000238883 RCV003644950

NM_007294.4(BRCA1):c.5390C>T (p.Ser1797Leu)

SNV
Germline

Chr17:43049137

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
not specified
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10586114

rs_879255492

5 SubmittersRCV000238611 RCV000615770 RCV002518535 RCV004020983

NM_007294.4(BRCA1):c.827C>A (p.Thr276Lys)

SNV
Germline

Chr17:43094704

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10586119

rs_80357436

5 SubmittersRCV000239233 RCV000637581 RCV000758850 RCV002429180

NM_007294.4(BRCA1):c.925A>G (p.Lys309Glu)

SNV
Germline

Chr17:43094606

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified

Criteria Provided
Conflicting Classifications

CA10586121

rs_879255498

6 SubmittersRCV000239043 RCV000563778 RCV003644951 RCV005891073

NM_000059.4(BRCA2):c.464G>A (p.Arg155Lys)

SNV
Germline

Chr13:32326139

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA10586163

rs_377639990

5 SubmittersRCV000239453 RCV000461803 RCV001022845 RCV003607279

NM_000059.4(BRCA2):c.523C>T (p.Gln175Ter)

SNV
Germline

Chr13:32326505

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA6940396

rs_750385844

3 SubmittersRCV000241116 RCV000688623 RCV001023783

NM_000059.4(BRCA2):c.584C>G (p.Ser195Ter)

SNV
Germline

Chr13:32326566

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 1

Reviewed By Expert Panel

CA10586482

rs_886038053

7 SubmittersRCV000241261 RCV000460181 RCV002269265 RCV002356338 RCV003475851 RCV005861096

NM_000059.4(BRCA2):c.1325C>G (p.Ser442Ter)

SNV
Germline

Chr13:32332803

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA10586495

rs_80358421

4 SubmittersRCV000241014 RCV000579413 RCV001055352

NM_000059.4(BRCA2):c.2548C>T (p.Gln850Ter)

SNV
Germline

Chr13:32336903

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA10586502

rs_886038075

6 SubmittersRCV000241213 RCV002429181 RCV002519873

NM_000059.4(BRCA2):c.2905C>T (p.Gln969Ter)

SNV
Germline

Chr13:32337260

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
8 conditions

Reviewed By Expert Panel

CA10586506

rs_886038080

7 SubmittersRCV000240967 RCV000550373 RCV002436078 RCV005008217

NM_000059.4(BRCA2):c.3016G>T (p.Gly1006Ter)

SNV
Germline

Chr13:32337371

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA10586509

rs_886038083

2 SubmittersRCV000241529 RCV002519874

NM_000059.4(BRCA2):c.3046G>T (p.Glu1016Ter)

SNV
Germline

Chr13:32337401

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Reviewed By Expert Panel

CA6940656

rs_748508287

7 SubmittersRCV000241181 RCV001524512 RCV001857850 RCV003221885

NM_000059.4(BRCA2):c.4689G>A (p.Trp1563Ter)

SNV
Germline

Chr13:32339044

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
not specified
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast

Reviewed By Expert Panel

CA10586527

rs_886038108

8 SubmittersRCV000241224 RCV000506415 RCV000698636 RCV002338794 RCV003477863 RCV004567800

NM_000059.4(BRCA2):c.4936G>T (p.Glu1646Ter)

SNV
Germline

Chr13:32339291

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA10586529

rs_886038111

2 SubmittersRCV000241191 RCV006462242

NM_000059.4(BRCA2):c.4972C>T (p.Gln1658Ter)

SNV
Germline

Chr13:32339327

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA10586532

rs_886038114

5 SubmittersRCV000241136 RCV000520451 RCV001175032 RCV004020992

NM_000059.4(BRCA2):c.5281G>T (p.Gly1761Ter)

SNV
Germline

Chr13:32339636

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
BRCA2-related cancer predisposition

Reviewed By Expert Panel

CA10586539

rs_886038122

10 SubmittersRCV000241157 RCV000637612 RCV000772133 RCV001723829 RCV004804969

NM_000059.4(BRCA2):c.5779G>T (p.Glu1927Ter)

SNV
Germline

Chr13:32340134

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA10586544

rs_886038131

3 SubmittersRCV000241079 RCV001386553

NM_000059.4(BRCA2):c.5978T>G (p.Leu1993Ter)

SNV
Germline

Chr13:32340333

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA6940920

rs_768242833

3 SubmittersRCV000241170 RCV000496287 RCV005532611

NM_000059.4(BRCA2):c.7063G>T (p.Glu2355Ter)

SNV
Germline

Chr13:32354916

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Reviewed By Expert Panel

CA6941056

rs_200078639

6 SubmittersRCV000241131 RCV000526031 RCV000657669 RCV001025988 RCV003475854

NM_000059.4(BRCA2):c.8178T>A (p.Tyr2726Ter)

SNV
Germline

Chr13:32363380

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Condition: not provided

Reviewed By Expert Panel

CA10586587

rs_761595544

7 SubmittersRCV000241134 RCV000496742 RCV001729482

NM_000059.4(BRCA2):c.8478C>A (p.Tyr2826Ter)

SNV
Germline

Chr13:32370548

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary breast ovarian cancer syndrome
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Inherited breast cancer and ovarian cancer

Reviewed By Expert Panel

CA6941230

rs_776353983

8 SubmittersRCV000240987 RCV001284444 RCV001388431 RCV003463712 RCV004601140 RCV006555051

NM_007294.4(BRCA1):c.4088C>G (p.Ser1363Ter)

SNV
Germline

Chr17:43091443

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA10586612

rs_398122680

8 SubmittersRCV000241411 RCV000483270 RCV001048872 RCV001021838

NM_007294.4(BRCA1):c.3910G>T (p.Glu1304Ter)

SNV
Germline

Chr17:43091621

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA10586615

rs_886038028

3 SubmittersRCV000241201 RCV000456540 RCV002374409

NM_007294.4(BRCA1):c.3635C>G (p.Ser1212Ter)

SNV
Germline

Chr17:43091896

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA10586622

rs_886038021

2 SubmittersRCV000241422 RCV000637626

NM_007294.4(BRCA1):c.3001G>T (p.Glu1001Ter)

SNV
Germline

Chr17:43092530

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA10586636

rs_886038007

4 SubmittersRCV000241333 RCV001854944

NM_007294.4(BRCA1):c.2599C>T (p.Gln867Ter)

SNV
Germline

Chr17:43092932

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Pancreatic cancer, susceptibility to, 4
Fanconi anemia, complementation group S
Breast-ovarian cancer, familial, susceptibility to, 1

Reviewed By Expert Panel

CA10586643

rs_886038001

9 SubmittersRCV000240974 RCV000637361 RCV000585697 RCV001016055 RCV002518559 RCV005016651

NM_007294.4(BRCA1):c.2138C>A (p.Ser713Ter)

SNV
Germline

Chr17:43093393

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Reviewed By Expert Panel

CA10586649

rs_80357233

5 SubmittersRCV000241146 RCV000573407 RCV001854943 RCV003477862

NM_007294.4(BRCA1):c.1080C>A (p.Cys360Ter)

SNV
Germline

Chr17:43094451

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA10586659

rs_886037986

3 SubmittersRCV000241273 RCV001857847

NM_007294.4(BRCA1):c.1044T>A (p.Cys348Ter)

SNV
Germline

Chr17:43094487

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA10586660

rs_886037985

5 SubmittersRCV000241430 RCV001236402

NM_007294.4(BRCA1):c.784C>T (p.Gln262Ter)

SNV
Germline

Chr17:43094747

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Reviewed By Expert Panel

CA10586665

rs_886037979

7 SubmittersRCV000240999 RCV001026872 RCV001207336 RCV001727656

NM_007294.4(BRCA1):c.280C>T (p.Gln94Ter)

SNV
Germline

Chr17:43104889

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA10586672

rs_886037972

7 SubmittersRCV000241148 RCV000779883 RCV001016654

NM_007294.4(BRCA1):c.5125G>A (p.Gly1709Arg)

SNV
Germline

Chr17:43063901

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified

Criteria Provided
Conflicting Classifications

CA10586677

rs_886038197

8 SubmittersRCV000241163 RCV000546570 RCV000571176 RCV001824708

NM_007294.4(BRCA1):c.5075A>C (p.Asp1692Ala)

SNV
Germline

Chr17:43063951

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Malignant tumor of breast
Condition: not provided
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10586678

rs_397509222

6 SubmittersRCV000241473 RCV000500821 RCV003237802 RCV006462244

NM_007294.4(BRCA1):c.213-5T>A

SNV
Germline

Chr17:43104961

Pathogenic/Likely pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA10586680

rs_886038196

5 SubmittersRCV000241443 RCV001349989 RCV002418077

NM_000059.4(BRCA2):c.2363G>A (p.Gly788Asp)

SNV
Germline

Chr13:32336718

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10588561

rs_886039316

4 SubmittersRCV000255355 RCV000510030 RCV001855001

NM_000059.4(BRCA2):c.2490C>G (p.Asn830Lys)

SNV
Germline

Chr13:32336845

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA10588562

rs_56331088

5 SubmittersRCV000255910 RCV001056245 RCV003157503 RCV003995739

NM_024675.4(PALB2):c.2368C>T (p.Gln790Ter)

SNV
Germline

Chr16:23629786

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Fanconi anemia
Hereditary cancer
Familial cancer of breast
Hereditary breast ovarian cancer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA10588608

rs_886039480

11 SubmittersRCV000255054 RCV000454204 RCV000509375 RCV000552634 RCV003155937

NM_007294.4(BRCA1):c.5296A>G (p.Ile1766Val)

SNV
Germline

Chr17:43051099

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
not specified

Criteria Provided
Conflicting Classifications

CA10588653

rs_886039314

8 SubmittersRCV000255771 RCV000771387 RCV000813828 RCV001073011 RCV001804989

NM_007294.4(BRCA1):c.4016A>G (p.Glu1339Gly)

SNV
Germline

Chr17:43091515

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA10588655

rs_886039313

6 SubmittersRCV000255274 RCV000571218 RCV001325880 RCV004701357 RCV005600881

NM_007294.4(BRCA1):c.3106T>C (p.Phe1036Leu)

SNV
Germline

Chr17:43092425

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA058116

rs_766381694

5 SubmittersRCV000254861 RCV000551637 RCV003157502 RCV003995738

NM_000059.4(BRCA2):c.71T>G (p.Leu24Ter)

SNV
Germline

Chr13:32319080

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA10589004

rs_397507902

4 SubmittersRCV000257036 RCV001056537

NM_000059.4(BRCA2):c.126T>A (p.Tyr42Ter)

SNV
Germline

Chr13:32319135

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA10589011

rs_886040353

4 SubmittersRCV000257198 RCV003298332 RCV003475861 RCV006462282

NM_000059.4(BRCA2):c.247G>T (p.Glu83Ter)

SNV
Germline

Chr13:32319256

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA10589016

rs_886040428

5 SubmittersRCV000257861 RCV000776210 RCV001380088

NM_000059.4(BRCA2):c.473C>A (p.Ser158Ter)

SNV
Germline

Chr13:32326148

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA10589030

rs_80358701

3 SubmittersRCV000257460 RCV001063986

NM_000059.4(BRCA2):c.643G>T (p.Glu215Ter)

SNV
Germline

Chr13:32329454

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA10589039

rs_774539540

3 SubmittersRCV000257497 RCV003644973

NM_000059.4(BRCA2):c.979A>T (p.Lys327Ter)

SNV
Germline

Chr13:32332457

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA10589065

rs_80359242

3 SubmittersRCV000257461 RCV001859525

NM_000059.4(BRCA2):c.1097T>G (p.Leu366Ter)

SNV
Germline

Chr13:32332575

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast and/or ovarian cancer
BRCA2-related cancer predisposition
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA10589072

rs_886040345

7 SubmittersRCV000257220 RCV001069551 RCV003477877 RCV003492023 RCV005355572 RCV005532614

NM_000059.4(BRCA2):c.1184G>A (p.Trp395Ter)

SNV
Germline

Chr13:32332662

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Gastric cancer

Reviewed By Expert Panel

CA10589073

rs_886040347

5 SubmittersRCV000257484 RCV000496427 RCV003165708

NM_000059.4(BRCA2):c.1253C>G (p.Ser418Ter)

SNV
Germline

Chr13:32332731

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA10589081

rs_397507266

3 SubmittersRCV000256683 RCV003644963

NM_000059.4(BRCA2):c.1376T>G (p.Leu459Ter)

SNV
Germline

Chr13:32332854

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Malignant tumor of breast

Reviewed By Expert Panel

CA10589090

rs_587781799

5 SubmittersRCV000257539 RCV000496394 RCV001357455

NM_000059.4(BRCA2):c.1621G>T (p.Glu541Ter)

SNV
Germline

Chr13:32333099

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA10589107

rs_886040378

4 SubmittersRCV000257630 RCV003530038 RCV005318356

NM_000059.4(BRCA2):c.2129C>G (p.Ser710Ter)

SNV
Germline

Chr13:32336484

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Reviewed By Expert Panel

CA10589136

rs_886040405

5 SubmittersRCV000257558 RCV001057719 RCV002418100 RCV003475862

NM_000059.4(BRCA2):c.2137C>T (p.Gln713Ter)

SNV
Germline

Chr13:32336492

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA10589137

rs_886040407

3 SubmittersRCV000257325 RCV001246977

NM_000059.4(BRCA2):c.2269A>T (p.Lys757Ter)

SNV
Germline

Chr13:32336624

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA10589148

rs_886040419

5 SubmittersRCV000256622 RCV000772134 RCV001855027

NM_000059.4(BRCA2):c.2593G>T (p.Glu865Ter)

SNV
Germline

Chr13:32336948

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA10589164

rs_587782014

3 SubmittersRCV000257089 RCV000502188

NM_000059.4(BRCA2):c.2847T>A (p.Tyr949Ter)

SNV
Germline

Chr13:32337202

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA10589175

rs_886040449

7 SubmittersRCV000256804 RCV000462744 RCV000507041 RCV000565071

NM_000059.4(BRCA2):c.2990T>G (p.Leu997Ter)

SNV
Germline

Chr13:32337345

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Breast neoplasm
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA10589184

rs_397507649

6 SubmittersRCV000256883 RCV000504597 RCV001046045 RCV001182321

NM_000059.4(BRCA2):c.3217C>T (p.Gln1073Ter)

SNV
Germline

Chr13:32337572

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA10589191

rs_886040464

5 SubmittersRCV000256685 RCV000561567 RCV000779987

NM_000059.4(BRCA2):c.3244A>T (p.Lys1082Ter)

SNV
Germline

Chr13:32337599

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA10589192

rs_886040465

4 SubmittersRCV000257758 RCV000772136 RCV001206785

NM_000059.4(BRCA2):c.3523C>T (p.Gln1175Ter)

SNV
Germline

Chr13:32337878

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA10589208

rs_886040480

12 SubmittersRCV000257840 RCV000522278 RCV001020520 RCV001064484

NM_000059.4(BRCA2):c.3812C>G (p.Ser1271Ter)

SNV
Germline

Chr13:32338167

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Familial cancer of breast

Reviewed By Expert Panel

CA10589223

rs_80358623

5 SubmittersRCV000256517 RCV001182320 RCV001859520 RCV003475868

NM_000059.4(BRCA2):c.3881T>G (p.Leu1294Ter)

SNV
Germline

Chr13:32338236

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Inherited prostate cancer

Reviewed By Expert Panel

CA10589230

rs_80358632

9 SubmittersRCV000257599 RCV000496437 RCV000772135 RCV006634301

NM_000059.4(BRCA2):c.4051A>T (p.Lys1351Ter)

SNV
Germline

Chr13:32338406

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA10589239

rs_886040510

4 SubmittersRCV000257141 RCV001021755 RCV003644967

NM_000059.4(BRCA2):c.4211C>G (p.Ser1404Ter)

SNV
Germline

Chr13:32338566

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided

Reviewed By Expert Panel

CA10589245

rs_41293489

8 SubmittersRCV000256949 RCV000500303 RCV000562646 RCV003475870 RCV004816469

NM_000059.4(BRCA2):c.4366G>T (p.Glu1456Ter)

SNV
Germline

Chr13:32338721

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast

Reviewed By Expert Panel

CA10589254

rs_876659847

10 SubmittersRCV000257168 RCV000496408 RCV000509662 RCV000657676 RCV003475871

NM_000059.4(BRCA2):c.4397T>A (p.Leu1466Ter)

SNV
Germline

Chr13:32338752

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA10589256

rs_886040526

3 SubmittersRCV000257822 RCV000703187

NM_000059.4(BRCA2):c.4774A>T (p.Lys1592Ter)

SNV
Germline

Chr13:32339129

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA10589272

rs_886040548

2 SubmittersRCV000257518 RCV000496852

NM_000059.4(BRCA2):c.4912A>T (p.Lys1638Ter)

SNV
Germline

Chr13:32339267

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA10589276

rs_886040553

6 SubmittersRCV000257313 RCV000487270 RCV000700312 RCV002347977

NM_000059.4(BRCA2):c.5263G>T (p.Glu1755Ter)

SNV
Germline

Chr13:32339618

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA10589304

rs_886040584

4 SubmittersRCV000256902 RCV003644970 RCV003165711

NM_000059.4(BRCA2):c.5365A>T (p.Lys1789Ter)

SNV
Germline

Chr13:32339720

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA10589312

rs_587782240

3 SubmittersRCV000256720 RCV004017576

NM_000059.4(BRCA2):c.5800C>T (p.Gln1934Ter)

SNV
Germline

Chr13:32340155

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA10589329

rs_886040610

6 SubmittersRCV000257465 RCV001782761 RCV004017577 RCV005781949

NM_000059.4(BRCA2):c.5966C>G (p.Ser1989Ter)

SNV
Germline

Chr13:32340321

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA10589339

rs_886038134

5 SubmittersRCV000257524 RCV001024726 RCV003155141

NM_000059.4(BRCA2):c.5975C>G (p.Ser1992Ter)

SNV
Germline

Chr13:32340330

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA10589341

rs_80358830

3 SubmittersRCV000257155 RCV003644971

NM_000059.4(BRCA2):c.6155C>G (p.Ser2052Ter)

SNV
Germline

Chr13:32340510

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA10589358

rs_786202461

6 SubmittersRCV000257714 RCV001024954 RCV000985559 RCV002307475

NM_000059.4(BRCA2):c.6244G>T (p.Glu2082Ter)

SNV
Germline

Chr13:32340599

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA10589361

rs_886040642

6 SubmittersRCV000257746 RCV000485979 RCV000566202 RCV000804427

NM_000059.4(BRCA2):c.6385G>T (p.Glu2129Ter)

SNV
Germline/somatic

Chr13:32340740

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Ovarian neoplasm
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Reviewed By Expert Panel

CA10589373

rs_886040653

6 SubmittersRCV000256697 RCV000785568 RCV002365279 RCV003644972 RCV004791381

NM_000059.4(BRCA2):c.6428C>G (p.Ser2143Ter)

SNV
Germline

Chr13:32340783

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA10589377

rs_149330893

4 SubmittersRCV000257829 RCV001855033 RCV004948248

NM_000059.4(BRCA2):c.6478C>T (p.Gln2160Ter)

SNV
Germline

Chr13:32340833

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast carcinoma

Reviewed By Expert Panel

CA10589379

rs_886040658

5 SubmittersRCV000257379 RCV000568004 RCV000637510 RCV001554247

NM_000059.4(BRCA2):c.6502G>T (p.Gly2168Ter)

SNV
Germline

Chr13:32340857

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
BRCA2-related cancer predisposition

Reviewed By Expert Panel

CA10589382

rs_886040660

6 SubmittersRCV000257061 RCV000507169 RCV000798225 RCV002356362 RCV004804978

NM_000059.4(BRCA2):c.6541G>T (p.Gly2181Ter)

SNV
Germline

Chr13:32340896

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA10589390

rs_371067421

5 SubmittersRCV000257017 RCV002365281 RCV003477879 RCV006462284

NM_000059.4(BRCA2):c.6730A>T (p.Lys2244Ter)

SNV
Germline

Chr13:32341085

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA10589401

rs_886040675

5 SubmittersRCV000256833 RCV000776329 RCV001383216

NM_000059.4(BRCA2):c.7033C>T (p.Gln2345Ter)

SNV
Germline

Chr13:32354886

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA10589410

rs_886040685

6 SubmittersRCV000256724 RCV000566727 RCV002519017

NM_000059.4(BRCA2):c.7124T>G (p.Leu2375Ter)

SNV
Germline

Chr13:32354977

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA10589413

rs_886040687

6 SubmittersRCV000257811 RCV001855035

NM_000059.4(BRCA2):c.7210A>T (p.Lys2404Ter)

SNV
Germline

Chr13:32355063

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA10589417

rs_886040691

4 SubmittersRCV000256528 RCV002374438 RCV005090313

NM_000059.4(BRCA2):c.7495C>T (p.Gln2499Ter)

SNV
Germline

Chr13:32356487

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Reviewed By Expert Panel

CA10589431

rs_876660447

5 SubmittersRCV000256887 RCV002392785 RCV003530041 RCV004786643

NM_000059.4(BRCA2):c.7501C>T (p.Gln2501Ter)

SNV
Germline

Chr13:32356493

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Reviewed By Expert Panel

CA10589432

rs_886040711

5 SubmittersRCV000257413 RCV000561200 RCV000637381 RCV005628811

NM_000059.4(BRCA2):c.7615C>T (p.Gln2539Ter)

SNV
Germline

Chr13:32356607

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA10589440

rs_886040720

5 SubmittersRCV000257556 RCV000483081 RCV000707435 RCV005781951

NM_000059.4(BRCA2):c.7708A>T (p.Lys2570Ter)

SNV
Germline

Chr13:32357832

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA10589447

rs_876659346

4 SubmittersRCV000257007 RCV001264456

NM_000059.4(BRCA2):c.7795G>T (p.Glu2599Ter)

SNV
Germline

Chr13:32357919

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA10589451

rs_41293509

4 SubmittersRCV000256741 RCV000529465 RCV002411139

NM_000059.4(BRCA2):c.7974C>A (p.Tyr2658Ter)

SNV
Germline

Chr13:32362691

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Familial cancer of breast
Condition: not provided

Reviewed By Expert Panel

CA10589460

rs_80359025

5 SubmittersRCV000256889 RCV000698665 RCV002288952 RCV002510834

NM_000059.4(BRCA2):c.8329A>T (p.Lys2777Ter)

SNV
Germline

Chr13:32363531

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA10589484

rs_886037818

4 SubmittersRCV000256643 RCV001050009 RCV002429206

NM_000059.4(BRCA2):c.8470A>T (p.Arg2824Ter)

SNV
Germline

Chr13:32370540

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA10589499

rs_886040778

6 SubmittersRCV000256588 RCV000496945 RCV002446506

NM_000059.4(BRCA2):c.8478C>G (p.Tyr2826Ter)

SNV
Germline

Chr13:32370548

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA10589500

rs_776353983

4 SubmittersRCV000257109 RCV005054188 RCV006462285

NM_000059.4(BRCA2):c.8504C>G (p.Ser2835Ter)

SNV
Germline

Chr13:32370972

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA10589501

rs_80359102

3 SubmittersRCV000256554 RCV003644975

NM_000059.4(BRCA2):c.8513T>A (p.Leu2838Ter)

SNV
Germline

Chr13:32370981

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA10589502

rs_886040779

4 SubmittersRCV000257071 RCV005090316

NM_000059.4(BRCA2):c.8536G>T (p.Glu2846Ter)

SNV
Germline

Chr13:32371004

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Condition: not provided

Reviewed By Expert Panel

CA10589506

rs_886040781

4 SubmittersRCV000257559 RCV002518783 RCV004596154

NM_000059.4(BRCA2):c.8777T>A (p.Leu2926Ter)

SNV
Germline

Chr13:32379339

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA10589516

rs_886040791

8 SubmittersRCV000257704 RCV000555765 RCV000657696 RCV001524866

NM_000059.4(BRCA2):c.8888C>G (p.Ser2963Ter)

SNV
Germline

Chr13:32379450

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA10589522

rs_886040798

4 SubmittersRCV000257755 RCV001812765 RCV001855036

NM_000059.4(BRCA2):c.8915T>A (p.Leu2972Ter)

SNV
Germline

Chr13:32379477

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA10589524

rs_80359142

5 SubmittersRCV000256493 RCV000429396 RCV002518784

NM_000059.4(BRCA2):c.8931T>A (p.Tyr2977Ter)

SNV
Germline

Chr13:32379493

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA10589526

rs_886040801

9 SubmittersRCV000257156 RCV000657664 RCV002446507 RCV003644976

NM_000059.4(BRCA2):c.8941G>T (p.Glu2981Ter)

SNV
Germline

Chr13:32379503

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA10589528

rs_139052578

5 SubmittersRCV000257646 RCV000496957 RCV002374441

NM_000059.4(BRCA2):c.8951C>A (p.Ser2984Ter)

SNV
Germline

Chr13:32379513

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA10589532

rs_80359146

6 SubmittersRCV000257587 RCV000472639 RCV001018541

NM_000059.4(BRCA2):c.9106C>T (p.Gln3036Ter)

SNV
Germline

Chr13:32379902

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Condition: not provided

Reviewed By Expert Panel

CA10589547

rs_202155613

6 SubmittersRCV000257850 RCV000637689 RCV000481378

NM_000059.4(BRCA2):c.9413T>G (p.Leu3138Ter)

SNV
Germline

Chr13:32394845

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA10589565

rs_886040838

3 SubmittersRCV000256636 RCV001855038

NM_000059.4(BRCA2):c.9836T>A (p.Leu3279Ter)

SNV
Germline

Chr13:32398349

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA10589575

rs_886040852

3 SubmittersRCV000257096 RCV001310191 RCV001859526

NM_007294.4(BRCA1):c.5542C>T (p.Gln1848Ter)

SNV
Germline

Chr17:43045728

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA10589583

rs_886040303

5 SubmittersRCV000256761 RCV001024252 RCV001386033

NM_007294.4(BRCA1):c.5161C>T (p.Gln1721Ter)

SNV
Germline

Chr17:43063365

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Malignant tumor of breast
Gastric cancer

Reviewed By Expert Panel

CA10589614

rs_878854957

9 SubmittersRCV000256774 RCV000571650 RCV000781017 RCV001355001 RCV003165707

NM_007294.4(BRCA1):c.4573C>T (p.Gln1525Ter)

SNV
Germline

Chr17:43074433

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA10589655

rs_886040237

3 SubmittersRCV000256768 RCV000555704

NM_007294.4(BRCA1):c.4566C>A (p.Tyr1522Ter)

SNV
Germline

Chr17:43074440

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA10589659

rs_886040234

3 SubmittersRCV000257421 RCV000812636

NM_007294.4(BRCA1):c.4527C>A (p.Tyr1509Ter)

SNV
Germline

Chr17:43074479

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA10589660

rs_886040233

4 SubmittersRCV000257041 RCV000657666 RCV001383770

NM_007294.4(BRCA1):c.4503C>A (p.Cys1501Ter)

SNV
Germline

Chr17:43074503

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Ovarian carcinoma
Condition: not provided

Reviewed By Expert Panel

CA10589661

rs_747539984

7 SubmittersRCV000256519 RCV000472996 RCV001640594 RCV004696896

NM_007294.4(BRCA1):c.4408G>T (p.Glu1470Ter)

SNV
Germline

Chr17:43076564

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Reviewed By Expert Panel

CA10589664

rs_886040230

5 SubmittersRCV000257865 RCV001022437 RCV001859514 RCV003477875

NM_007294.4(BRCA1):c.4270C>T (p.Gln1424Ter)

SNV
Germline

Chr17:43082491

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA10589674

rs_886040220

4 SubmittersRCV000256958 RCV001180871 RCV001859513

NM_007294.4(BRCA1):c.4225C>T (p.Gln1409Ter)

SNV
Germline

Chr17:43082536

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Fanconi anemia, complementation group S
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 1

Reviewed By Expert Panel

CA10589677

rs_886040218

9 SubmittersRCV000256907 RCV000536293 RCV000570823 RCV000759536 RCV005355571

NM_007294.4(BRCA1):c.4069G>T (p.Glu1357Ter)

SNV
Germline

Chr17:43091462

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Reviewed By Expert Panel

CA10589695

rs_886040195

7 SubmittersRCV000257624 RCV002321942 RCV002521867 RCV004999193

NM_007294.4(BRCA1):c.4066C>T (p.Gln1356Ter)

SNV
Germline

Chr17:43091465

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA10589696

rs_886040193

4 SubmittersRCV000256549 RCV001050058 RCV002321941

NM_007294.4(BRCA1):c.4042G>T (p.Gly1348Ter)

SNV
Germline

Chr17:43091489

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA10589699

rs_886040191

4 SubmittersRCV000257531 RCV003530034 RCV003584586

NM_007294.4(BRCA1):c.3679C>T (p.Gln1227Ter)

SNV
Germline

Chr17:43091852

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA10589729

rs_886040159

7 SubmittersRCV000256508 RCV001020862 RCV001800638 RCV001855023

NM_007294.4(BRCA1):c.3461T>G (p.Leu1154Ter)

SNV
Germline

Chr17:43092070

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA10589752

rs_886040130

4 SubmittersRCV000257705 RCV002450794 RCV005090307

NM_007294.4(BRCA1):c.3412G>T (p.Gly1138Ter)

SNV
Germline

Chr17:43092119

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA10589755

rs_886040126

6 SubmittersRCV000256530 RCV000324250 RCV001212296 RCV001177930

NM_007294.4(BRCA1):c.3266T>A (p.Leu1089Ter)

SNV
Germline

Chr17:43092265

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA10589771

rs_886040110

3 SubmittersRCV000256620 RCV002521866

NM_007294.4(BRCA1):c.2959A>T (p.Lys987Ter)

SNV
Germline

Chr17:43092572

Pathogenic

Condition: not provided
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA10589794

rs_878854941

6 SubmittersRCV000481554 RCV000780985 RCV000256551 RCV004948244

NM_007294.4(BRCA1):c.2890G>T (p.Gly964Ter)

SNV
Germline

Chr17:43092641

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA10589800

rs_879254027

3 SubmittersRCV000257882 RCV001855022

NM_007294.4(BRCA1):c.2551G>T (p.Glu851Ter)

SNV
Germline

Chr17:43092980

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Gastric cancer
Pancreatic cancer, susceptibility to, 4
Fanconi anemia, complementation group S
Breast-ovarian cancer, familial, susceptibility to, 1

Reviewed By Expert Panel

CA10589836

rs_398122662

11 SubmittersRCV000256930 RCV000539368 RCV000772054 RCV000758796 RCV003165704 RCV005016660

NM_007294.4(BRCA1):c.2524G>T (p.Glu842Ter)

SNV
Germline

Chr17:43093007

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA10589842

rs_876658552

4 SubmittersRCV000256754 RCV000496436 RCV001015819

NM_007294.4(BRCA1):c.2331T>G (p.Tyr777Ter)

SNV
Germline

Chr17:43093200

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA10589862

rs_80357444

6 SubmittersRCV000257516 RCV000484996 RCV001524116 RCV001855021

NM_007294.4(BRCA1):c.2309C>G (p.Ser770Ter)

SNV
Germline

Chr17:43093222

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA10589867

rs_80357063

5 SubmittersRCV000256873 RCV000812603 RCV002446502

NM_007294.4(BRCA1):c.1918C>T (p.Gln640Ter)

SNV
Germline

Chr17:43093613

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA10589909

rs_886039981

5 SubmittersRCV000256851 RCV000811225 RCV003477872 RCV005251110

NM_007294.4(BRCA1):c.1723G>T (p.Glu575Ter)

SNV
Germline

Chr17:43093808

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Reviewed By Expert Panel

CA10589923

rs_397508902

5 SubmittersRCV000257301 RCV000794574 RCV002401969 RCV006259363

NM_007294.4(BRCA1):c.1693G>T (p.Glu565Ter)

SNV
Germline

Chr17:43093838

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA10589924

rs_886039963

3 SubmittersRCV000256691 RCV005090306

NM_007294.4(BRCA1):c.1375A>T (p.Lys459Ter)

SNV
Germline

Chr17:43094156

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA10589943

rs_886039947

4 SubmittersRCV000257775 RCV002518775

NM_007294.4(BRCA1):c.1277C>G (p.Ser426Ter)

SNV
Germline

Chr17:43094254

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA10589951

rs_886039939

3 SubmittersRCV000256642 RCV003644955

NM_007294.4(BRCA1):c.1261G>T (p.Glu421Ter)

SNV
Germline

Chr17:43094270

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Familial cancer of breast
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA10589954

rs_80357046

6 SubmittersRCV000256520 RCV003237805 RCV003448293 RCV003644954 RCV005520256

NM_007294.4(BRCA1):c.1222A>T (p.Lys408Ter)

SNV
Germline

Chr17:43094309

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA10589958

rs_80357253

3 SubmittersRCV000256923 RCV000496794

NM_007294.4(BRCA1):c.1171G>T (p.Glu391Ter)

SNV
Germline

Chr17:43094360

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA10589964

rs_562553169

4 SubmittersRCV000257699 RCV001859505 RCV002328751

NM_007294.4(BRCA1):c.963G>A (p.Trp321Ter)

SNV
Germline

Chr17:43094568

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Breast and/or ovarian cancer
Hereditary cancer-predisposing syndrome
Condition: not provided

Reviewed By Expert Panel

CA10589977

rs_886040335

10 SubmittersRCV000257375 RCV000637520 RCV000735518 RCV001019582 RCV003477876

NM_007294.4(BRCA1):c.925A>T (p.Lys309Ter)

SNV
Germline

Chr17:43094606

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Breast-ovarian cancer, familial, susceptibility to, 1
Familial cancer of breast
Pancreatic cancer, susceptibility to, 4
Fanconi anemia, complementation group S
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA10589980

rs_879255498

5 SubmittersRCV000257812 RCV000763007 RCV001019078 RCV001855026

NM_007294.4(BRCA1):c.814G>T (p.Glu272Ter)

SNV
Germline

Chr17:43094717

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA10589992

rs_886040321

4 SubmittersRCV000257483 RCV001027223 RCV001381249

NM_007294.4(BRCA1):c.718C>T (p.Gln240Ter)

SNV
Germline

Chr17:43094813

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA10589999

rs_886040313

6 SubmittersRCV000257246 RCV000496842 RCV002374437

NM_007294.4(BRCA1):c.260T>A (p.Leu87Ter)

SNV
Germline

Chr17:43104909

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA10590026

rs_886040054

5 SubmittersRCV000256657 RCV003644959

NM_007294.4(BRCA1):c.5116G>C (p.Gly1706Arg)

SNV
Germline

Chr17:43063910

Pathogenic/Likely pathogenic

Breast and/or ovarian cancer
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA501117

rs_886040864

5 SubmittersRCV000257949 RCV001077614 RCV001182323 RCV001383769

NM_007294.4(BRCA1):c.5116G>A (p.Gly1706Arg)

SNV
Germline

Chr17:43063910

Pathogenic/Likely pathogenic

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA10590060

rs_886040864

6 SubmittersRCV000257990 RCV000494689 RCV001353435 RCV002338815

NM_000059.4(BRCA2):c.476-2A>C

SNV
Germline

Chr13:32326240

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA10602520

rs_81002853

2 SubmittersRCV000258403 RCV001042834

NM_000059.4(BRCA2):c.516+1G>T

SNV
Germline

Chr13:32326283

Pathogenic/Likely pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA10602521

rs_397507762

9 SubmittersRCV000258288 RCV001723868 RCV002338818 RCV001855044

NM_000059.4(BRCA2):c.682-2A>C

SNV
Germline

Chr13:32330917

Pathogenic/Likely pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA10602526

rs_878853287

4 SubmittersRCV000258313 RCV001855045 RCV002365287 RCV002298558

NM_000059.4(BRCA2):c.793+2T>G

SNV
Germline

Chr13:32331032

Pathogenic/Likely pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Gastric cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA10602527

rs_886040942

4 SubmittersRCV000258351 RCV001055989 RCV003165716

NM_000059.4(BRCA2):c.6938-1G>A

SNV
Germline

Chr13:32346826

Pathogenic/Likely pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA10602535

rs_886040936

7 SubmittersRCV000258239 RCV000801410 RCV001025818

NM_000059.4(BRCA2):c.7007+2T>A

SNV
Germline

Chr13:32346898

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA10602536

rs_886040937

2 SubmittersRCV000258164 RCV001377949

NM_000059.4(BRCA2):c.7436-2A>G

SNV
Germline

Chr13:32356426

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA10602538

rs_397507917

3 SubmittersRCV000258250 RCV001051245

NM_000059.4(BRCA2):c.7618-2A>G

SNV
Germline

Chr13:32357740

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA10602540

rs_886040940

12 SubmittersRCV000258279 RCV000575023 RCV000985589 RCV001218656

NM_000059.4(BRCA2):c.7976+2C>A

SNV
Germline

Chr13:32362695

Pathogenic/Likely pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA10602543

rs_886040943

3 SubmittersRCV000258308 RCV001859528 RCV005401410

NM_000059.4(BRCA2):c.7977-1G>A

SNV
Germline

Chr13:32363178

Pathogenic/Likely pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Cervical cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA10602545

rs_81002874

5 SubmittersRCV000258445 RCV001176032 RCV001388429 RCV005895459

NM_000059.4(BRCA2):c.8331+2T>C

SNV
Germline

Chr13:32363535

Pathogenic/Likely pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA10602546

rs_398122602

17 SubmittersRCV000258355 RCV000496246 RCV000519723 RCV000581266 RCV003463731

NM_000059.4(BRCA2):c.8487+2T>C

SNV
Germline

Chr13:32370559

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA10602548

rs_886040944

3 SubmittersRCV000258227 RCV002518791 RCV005647992

NM_000059.4(BRCA2):c.8488-1G>T

SNV
Germline

Chr13:32370955

Pathogenic/Likely pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA10602549

rs_397507404

6 SubmittersRCV000258314 RCV001017885 RCV001051759 RCV003477880 RCV003475882

NM_000059.4(BRCA2):c.8754+1G>T

SNV
Germline

Chr13:32376792

Pathogenic/Likely pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast carcinoma
BRCA2-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA10602551

rs_397508006

10 SubmittersRCV000258328 RCV000430537 RCV000570219 RCV001380520 RCV001572629 RCV002221522

NM_000059.4(BRCA2):c.8954-5A>G

SNV
Germline

Chr13:32379745

Pathogenic/Likely pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Multiple Submitters
No Conflicts

CA10602555

rs_886040949

14 SubmittersRCV000258499 RCV000461006 RCV000562165 RCV000985614 RCV002250610 RCV003128237

NM_000059.4(BRCA2):c.9117G>T (p.Pro3039=)

SNV
Germline

Chr13:32379913

Pathogenic/Likely pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA10602557

rs_28897756

3 SubmittersRCV000258500 RCV001227101

NM_000059.4(BRCA2):c.9118-2A>T

SNV
Germline

Chr13:32380005

Pathogenic/Likely pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA10602561

rs_81002862

3 SubmittersRCV000258235 RCV000820135 RCV002374445

NM_000059.4(BRCA2):c.9118-1G>A

SNV
Germline

Chr13:32380006

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10602562

rs_886040950

7 SubmittersRCV000258263 RCV000726023 RCV002518792 RCV005532615

NM_000059.4(BRCA2):c.9257-2A>G

SNV
Germline

Chr13:32394687

Pathogenic/Likely pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Multiple Submitters
No Conflicts

CA10602565

rs_886040954

9 SubmittersRCV000258310 RCV000456394 RCV000510064 RCV001553412 RCV003475884 RCV005355579

NM_000059.4(BRCA2):c.9501+1G>T

SNV
Germline

Chr13:32394934

Pathogenic/Likely pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA10602568

rs_397508058

5 SubmittersRCV000258166 RCV000779967 RCV001019433 RCV001800642

NM_007294.4(BRCA1):c.5333-1G>T

SNV
Germline/somatic

Chr17:43049195

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Ovarian neoplasm
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA10590802

rs_80358126

6 SubmittersRCV000258430 RCV000690664 RCV000785577 RCV001023942

NM_007294.4(BRCA1):c.5332+2T>C

SNV
Germline

Chr17:43051061

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA10590890

rs_80358182

4 SubmittersRCV000258412 RCV000559295 RCV002347981

NM_007294.4(BRCA1):c.5332+1G>T

SNV
Germline

Chr17:43051062

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Familial cancer of breast
Fanconi anemia, complementation group S

Criteria Provided
Multiple Submitters
No Conflicts

CA10590891

rs_80358041

7 SubmittersRCV000258497 RCV000774989 RCV002519026 RCV005355578

NM_007294.4(BRCA1):c.5278-2A>G

SNV
Germline

Chr17:43051119

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA10590992

rs_397509253

5 SubmittersRCV000258354 RCV000496299 RCV001023845

NM_007294.4(BRCA1):c.4987-5T>C

SNV
Germline

Chr17:43067700

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
not specified
Hereditary breast ovarian cancer syndrome
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 1
Pancreatic cancer, susceptibility to, 4
Fanconi anemia, complementation group S

Criteria Provided
Conflicting Classifications

CA10602584

rs_397509214

8 SubmittersRCV000258194 RCV000496749 RCV000797612 RCV002250609 RCV004796145

NM_007294.4(BRCA1):c.4986+5G>C

SNV
Germline

Chr17:43070923

Pathogenic/Likely pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA10602586

rs_397509211

4 SubmittersRCV000258270 RCV002519025

NM_007294.4(BRCA1):c.4675+2T>C

SNV
Germline

Chr17:43074329

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA10592159

rs_879255293

3 SubmittersRCV000258318 RCV001022881 RCV001381895

NM_007294.4(BRCA1):c.4675+2T>A

SNV
Germline

Chr17:43074329

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Inherited breast cancer and ovarian cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA10592160

rs_879255293

3 SubmittersRCV000258243 RCV000496422 RCV006252564

NM_007294.4(BRCA1):c.4675+1G>C

SNV
Germline

Chr17:43074330

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA10592161

rs_80358044

3 SubmittersRCV000258472 RCV000845276

NM_007294.4(BRCA1):c.4485-1G>C

SNV
Germline

Chr17:43074522

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA10592559

rs_80358189

2 SubmittersRCV000258379 RCV003644977

NM_007294.4(BRCA1):c.4484+5G>C

SNV
Germline

Chr17:43076483

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10602588

rs_886040910

4 SubmittersRCV000258362 RCV000845275 RCV004948249

NM_007294.4(BRCA1):c.4484+1G>T

SNV
Germline

Chr17:43076487

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Breast and/or ovarian cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA10592565

rs_80358063

4 SubmittersRCV000258231 RCV001043166 RCV001271024

NM_007294.4(BRCA1):c.671-2A>T

SNV
Germline

Chr17:43094862

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA10600750

rs_80358108

3 SubmittersRCV000258202 RCV000496218

NM_007294.4(BRCA1):c.671-2A>G

SNV
Germline

Chr17:43094862

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Inherited ovarian cancer (without breast cancer)

Criteria Provided
Conflicting Classifications

CA10600751

rs_80358108

6 SubmittersRCV000258427 RCV000823108 RCV001572199 RCV002365286 RCV005416031

NM_007294.4(BRCA1):c.301+1G>C

SNV
Germline

Chr17:43104867

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA055552

rs_587782173

7 SubmittersRCV000258159 RCV000509904 RCV000705646 RCV001589310

NM_007294.4(BRCA1):c.213-15A>G

SNV
Germline

Chr17:43104971

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10602606

rs_886040903

5 SubmittersRCV000258182 RCV000521647 RCV000774990 RCV001855043

NM_007294.4(BRCA1):c.212G>C (p.Arg71Thr)

SNV
Germline

Chr17:43106456

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Ovarian neoplasm

Criteria Provided
Multiple Submitters
No Conflicts

CA10601745

rs_80356913

7 SubmittersRCV000258471 RCV000584047 RCV000537219 RCV000785200

NM_007294.4(BRCA1):c.134+1G>A

SNV
Germline

Chr17:43115725

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA10601889

rs_80358043

4 SubmittersRCV000258371 RCV002379106 RCV002518790

NM_007294.4(BRCA1):c.117T>G (p.Cys39Trp)

SNV
Germline

Chr17:43115743

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA10601925

rs_886040898

3 SubmittersRCV000258480 RCV000703438

NM_000059.4(BRCA2):c.8860T>C (p.Ser2954Pro)

SNV
Germline

Chr13:32379422

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10603184

rs_886041145

6 SubmittersRCV000308900 RCV000562009 RCV000656808 RCV001217254

NM_000059.4(BRCA2):c.8113A>G (p.Ser2705Gly)

SNV
Germline

Chr13:32363315

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Fanconi anemia complementation group D1
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA6941189

rs_756105620

9 SubmittersRCV000335958 RCV000510067 RCV000530767 RCV000586599 RCV001535652 RCV003995749

NM_007294.4(BRCA1):c.4009G>C (p.Asp1337His)

SNV
Germline

Chr17:43091522

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10593943

rs_886041144

5 SubmittersRCV000259337 RCV000637752 RCV001021647

NM_007194.4(CHEK2):c.1186C>G (p.Leu396Val)

SNV
Germline

Chr22:28695783

Conflicting classifications of pathogenicity

Condition: not provided
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10603510

rs_886041172

5 SubmittersRCV000312579 RCV001060228 RCV002338819 RCV005251113

NM_007194.4(CHEK2):c.1008G>A (p.Gln336=)

SNV
Germline

Chr22:28699838

Conflicting classifications of pathogenicity

Condition: not provided
Familial cancer of breast
Hereditary cancer-predisposing syndrome
not specified
CHEK2-related cancer predisposition
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10167766

rs_201544715

14 SubmittersRCV000399000 RCV000465362 RCV000573690 RCV001193088 RCV005355581 RCV006272285

NM_000059.4(BRCA2):c.7020A>G (p.Glu2340=)

SNV
Germline

Chr13:32354873

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10604012

rs_886042269

4 SubmittersRCV000344784 RCV000581235 RCV002059095

NM_001018115.3(FANCD2):c.491+10G>A

SNV
Germline

Chr3:10036349

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group D2
not specified
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA2249233

rs_17032279

5 SubmittersRCV000317060 RCV001094770 RCV001821030 RCV002225594

NM_001017420.3(ESCO2):c.1735C>A (p.Pro579Thr)

SNV
Germline

Chr8:27803367

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary breast ovarian cancer syndrome
Roberts-SC phocomelia syndrome

Criteria Provided
Conflicting Classifications

CA4692388

rs_115144373

4 SubmittersRCV000906000 RCV001374520 RCV005624373

NM_020937.4(FANCM):c.1741C>T (p.Arg581Cys)

SNV
Germline

Chr14:45164518

Conflicting classifications of pathogenicity

Fanconi anemia
Premature ovarian failure 15
Spermatogenic failure 28
Spermatogenic failure 28
Hereditary breast ovarian cancer syndrome
Condition: not provided
FANCM-related disorder

Criteria Provided
Conflicting Classifications

CA7169137

rs_202171930

7 SubmittersRCV000269296 RCV000763930 RCV001292875 RCV001030474 RCV001590938 RCV004537777

NM_020937.4(FANCM):c.2240A>G (p.His747Arg)

SNV
Germline

Chr14:45173134

Conflicting classifications of pathogenicity

Fanconi anemia
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7169295

rs_181827583

3 SubmittersRCV000280719 RCV001030476 RCV001597071

NM_020937.4(FANCM):c.4709G>A (p.Arg1570His)

SNV
Germline

Chr14:45187817

Conflicting classifications of pathogenicity

Fanconi anemia
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
FANCM-related disorder

Criteria Provided
Conflicting Classifications

CA7169843

rs_201803784

5 SubmittersRCV000402989 RCV001030549 RCV002256202 RCV003229827 RCV004544559

NM_000059.4(BRCA2):c.3415A>C (p.Lys1139Gln)

SNV
Germline

Chr13:32337770

Conflicting classifications of pathogenicity

Fanconi anemia complementation group D1
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10643168

rs_747903103

3 SubmittersRCV000293210 RCV000350466 RCV003157506 RCV005090455

NM_007294.4(BRCA1):c.-86C>T

SNV
Germline

Chr17:43125337

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
not specified
Breast and/or ovarian cancer
Malignant tumor of breast
Condition: not provided
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA059887

rs_143160357

9 SubmittersRCV000354064 RCV000501570 RCV000735614 RCV001004838 RCV001690071 RCV003105869

NM_007294.4(BRCA1):c.5467+14A>G

SNV
Germline

Chr17:43047629

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA10649335

rs_886052974

3 SubmittersRCV001394087 RCV001072178

NM_032043.3(BRIP1):c.2829C>A (p.Val943=)

SNV
Germline

Chr17:61685912

Conflicting classifications of pathogenicity

Fanconi anemia complementation group J
not specified
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group J
Hereditary breast ovarian cancer syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA10650615

rs_767164240

7 SubmittersRCV000260325 RCV000604455 RCV000572116 RCV000636193 RCV005365248 RCV004786667

NM_000051.4(ATM):c.2377-2A>G

SNV
Germline

Chr11:108258984

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Hereditary breast ovarian cancer syndrome
ATM-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA16041391

rs_1057516553

7 SubmittersRCV000411480 RCV000568118 RCV003463794 RCV005251119 RCV006554515

NM_000051.4(ATM):c.4776+2T>A

SNV
Germline

Chr11:108293479

Pathogenic/Likely pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Gastric cancer
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA16041412

rs_587781927

9 SubmittersRCV000412136 RCV000775841 RCV001030531 RCV003168593 RCV004022141

NM_000059.4(BRCA2):c.1223T>C (p.Met408Thr)

SNV
Germline

Chr13:32332701

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA16042137

rs_1057517562

5 SubmittersRCV000412475 RCV001010412 RCV001850978

NM_000059.4(BRCA2):c.4474A>T (p.Lys1492Ter)

SNV
Germline

Chr13:32338829

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
BRCA2-related cancer predisposition

Criteria Provided
Multiple Submitters
No Conflicts

CA16042139

rs_1057517636

4 SubmittersRCV000411097 RCV001850980 RCV002328899 RCV005355700

NM_007294.4(BRCA1):c.5407-25T>A

SNV
Germline

Chr17:43047728

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
not specified
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
BRCA1-related disorder
Familial cancer of breast
Fanconi anemia, complementation group S
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA16042163

rs_758780152

13 SubmittersRCV000410033 RCV000496748 RCV000538853 RCV001024052 RCV001731667 RCV004554765 RCV005398498

NM_007294.4(BRCA1):c.869T>A (p.Leu290Ter)

SNV
Germline

Chr17:43094662

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA10600340

rs_730881468

5 SubmittersRCV000410713 RCV001039562 RCV002374614

NM_032043.3(BRIP1):c.1140+11G>A

SNV
Germline

Chr17:61801242

Conflicting classifications of pathogenicity

Fanconi anemia complementation group J
not specified
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group J
Hereditary breast ovarian cancer syndrome
Ovarian cancer

Criteria Provided
Conflicting Classifications

CA8690798

rs_369153270

8 SubmittersRCV000410194 RCV000423409 RCV000579834 RCV002058861 RCV005090659 RCV005430351

NM_000059.4(BRCA2):c.8557A>T (p.Lys2853Ter)

SNV
Germline

Chr13:32371025

Pathogenic

Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA16042861

rs_1057517865

6 SubmittersRCV000414464 RCV000661783 RCV001310184 RCV006362318 RCV006462579

NM_000059.4(BRCA2):c.1370A>G (p.Lys457Arg)

SNV
Germline

Chr13:32332848

Conflicting classifications of pathogenicity

Breast neoplasm
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA6940515

rs_771442299

3 SubmittersRCV000413908 RCV001216354 RCV003157508

NM_000059.4(BRCA2):c.2266C>T (p.Gln756Ter)

SNV
Germline/somatic

Chr13:32336621

Pathogenic

Breast neoplasm
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Malignant tumor of urinary bladder

Reviewed By Expert Panel

CA16043337

rs_1057518637

5 SubmittersRCV000414647 RCV000509837 RCV000661584 RCV001071001 RCV003332165

NM_000059.4(BRCA2):c.4962T>A (p.Cys1654Ter)

SNV
Germline

Chr13:32339317

Pathogenic

Breast neoplasm
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA16043338

rs_1057518638

4 SubmittersRCV000414119 RCV000661485 RCV006462600

NM_000059.4(BRCA2):c.6550C>T (p.Gln2184Ter)

SNV
Germline

Chr13:32340905

Pathogenic

Breast neoplasm
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA16043340

rs_80358887

5 SubmittersRCV000413131 RCV000661521 RCV001380432 RCV004022179

NM_007294.4(BRCA1):c.4963T>C (p.Ser1655Pro)

SNV
Germline

Chr17:43070951

Likely pathogenic

Breast neoplasm
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Malignant tumor of breast
Condition: not provided
Inherited ovarian cancer (without breast cancer)
BRCA1-related cancer predisposition

Reviewed By Expert Panel

CA10591598

rs_1057518639

9 SubmittersRCV000414437 RCV000675184 RCV000989875 RCV001357954 RCV003237839 RCV005416032 RCV005628815

NM_000059.4(BRCA2):c.6263C>T (p.Thr2088Ile)

SNV
Germline

Chr13:32340618

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA6940940

rs_767567428

11 SubmittersRCV000415863 RCV000455182 RCV000464688 RCV000487865 RCV000568895

NM_007294.4(BRCA1):c.3028C>T (p.Pro1010Ser)

SNV
Germline

Chr17:43092503

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Fanconi anemia, complementation group S
Breast-ovarian cancer, familial, susceptibility to, 1
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA10595936

rs_1057519249

7 SubmittersRCV000415656 RCV001343171 RCV002436241 RCV004999372 RCV005355707

NM_007294.4(BRCA1):c.5000A>G (p.Lys1667Arg)

SNV
Germline

Chr17:43067682

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10591520

rs_1057519495

3 SubmittersRCV000416530 RCV001076928 RCV003168611

NM_007294.4(BRCA1):c.4981G>A (p.Glu1661Lys)

SNV
Germline

Chr17:43070933

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA10591564

rs_80357401

7 SubmittersRCV000416506 RCV000509960 RCV000586506 RCV001077875

NM_007294.4(BRCA1):c.3902G>A (p.Ser1301Asn)

SNV
Germline

Chr17:43091629

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA10594161

rs_1057519496

9 SubmittersRCV000416523 RCV000509773 RCV000586928 RCV002265753 RCV003493568

NM_007294.4(BRCA1):c.4243G>T (p.Glu1415Ter)

SNV
Germline

Chr17:43082518

Pathogenic

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1

Reviewed By Expert Panel

CA10593235

rs_1057519558

2 SubmittersRCV000417027 RCV000661024

NM_000546.6(TP53):c.581T>G (p.Leu194Arg)

SNV
Germline/somatic

Chr17:7674950

Pathogenic

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Ovarian neoplasm
Colorectal cancer
Li-Fraumeni syndrome 1
Hereditary breast ovarian cancer syndrome
TP53-related disorder

Reviewed By Expert Panel

CA16044097

rs_1057519998

7 SubmittersRCV000535418 RCV000561306 RCV000785551 RCV001270270 RCV004022229 RCV004764786 RCV004797609

NM_000051.4(ATM):c.4910-16A>T

SNV
Germline

Chr11:108297271

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
Ataxia-telangiectasia syndrome
Familial cancer of breast
Breast and/or ovarian cancer
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA16605798

rs_866500582

8 SubmittersRCV000428745 RCV000580519 RCV001692095 RCV002065032 RCV004591193 RCV003492041 RCV005090755

NM_000059.4(BRCA2):c.-60A>G

SNV
Germline

Chr13:32315647

Conflicting classifications of pathogenicity

not specified
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA16606404

rs_1057522793

2 SubmittersRCV000441128 RCV001361386

NM_000059.4(BRCA2):c.1909+6T>A

SNV
Germline

Chr13:32333393

Conflicting classifications of pathogenicity

not specified
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA16606419

rs_1057522382

3 SubmittersRCV000420996 RCV000530737 RCV001524772

NM_000059.4(BRCA2):c.4354C>T (p.Gln1452Ter)

SNV
Germline

Chr13:32338709

Pathogenic

Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA16606424

rs_431825319

5 SubmittersRCV000423930 RCV000661657 RCV000792245 RCV002328935

NM_000059.4(BRCA2):c.6640A>G (p.Thr2214Ala)

SNV
Germline

Chr13:32340995

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA16606429

rs_377200598

5 SubmittersRCV000689694 RCV000775914 RCV001703679

NM_000059.4(BRCA2):c.9649-5A>G

SNV
Germline

Chr13:32398157

Conflicting classifications of pathogenicity

not specified
Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA16606458

rs_1057522325

5 SubmittersRCV000426647 RCV001492370 RCV001800670 RCV004022399

NM_000059.4(BRCA2):c.-10G>C

SNV
Germline

Chr13:32316451

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA6940302

rs_754814638

3 SubmittersRCV000425961 RCV001179123 RCV001475044

NM_000059.4(BRCA2):c.960A>G (p.Leu320=)

SNV
Germline

Chr13:32332438

Conflicting classifications of pathogenicity

not specified
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA16606655

rs_890456700

4 SubmittersRCV000431309 RCV000637825 RCV006362339 RCV004999410

NM_000059.4(BRCA2):c.2819A>G (p.Gln940Arg)

SNV
Germline

Chr13:32337174

Conflicting classifications of pathogenicity

not specified
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA16606666

rs_1057520249

6 SubmittersRCV000440722 RCV001202899 RCV002436244 RCV004804993

NM_000059.4(BRCA2):c.3513A>G (p.Pro1171=)

SNV
Germline

Chr13:32337868

Conflicting classifications of pathogenicity

not specified
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA16606673

rs_1057521874

7 SubmittersRCV000434125 RCV000551658 RCV000580798 RCV004000408 RCV006259900

NM_000059.4(BRCA2):c.9990A>C (p.Glu3330Asp)

SNV
Germline

Chr13:32398503

Conflicting classifications of pathogenicity

not specified
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA16606711

rs_1057520433

3 SubmittersRCV000438839 RCV000472119 RCV000571359

NM_000059.4(BRCA2):c.10018G>A (p.Ala3340Thr)

SNV
Germline

Chr13:32398531

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA16606713

rs_919415219

4 SubmittersRCV000437924 RCV001180015 RCV002525390

NM_000059.4(BRCA2):c.-51C>T

SNV
Germline

Chr13:32315656

Conflicting classifications of pathogenicity

not specified
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA16606763

rs_1057521841

3 SubmittersRCV000417554 RCV001350222

NM_000059.4(BRCA2):c.7470A>G (p.Ile2490Met)

SNV
Germline

Chr13:32356462

Conflicting classifications of pathogenicity

not specified
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA16606809

rs_1057520611

5 SubmittersRCV000417686 RCV000694230 RCV001026476 RCV003996024 RCV004999384

NM_000059.4(BRCA2):c.8355T>C (p.Pro2785=)

SNV
Germline

Chr13:32370425

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
BRCA2-related disorder

Criteria Provided
Conflicting Classifications

CA16606823

rs_1057524419

7 SubmittersRCV000430153 RCV000584263 RCV002060084 RCV004539911

NM_000059.4(BRCA2):c.9118-3T>C

SNV
Germline

Chr13:32380004

Conflicting classifications of pathogenicity

not specified
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA16606828

rs_1057522934

3 SubmittersRCV000419809 RCV003644982 RCV006362340

NM_000059.4(BRCA2):c.9129A>G (p.Glu3043=)

SNV
Germline

Chr13:32380018

Conflicting classifications of pathogenicity

not specified
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA16606832

rs_28897757

5 SubmittersRCV000443730 RCV000870348 RCV001018899 RCV001703545

NM_000059.4(BRCA2):c.9130A>G (p.Ile3044Val)

SNV
Germline

Chr13:32380019

Conflicting classifications of pathogenicity

not specified
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA16606834

rs_1057521760

2 SubmittersRCV000439951 RCV005090769

NM_000059.4(BRCA2):c.10195G>A (p.Ala3399Thr)

SNV
Germline

Chr13:32398708

Conflicting classifications of pathogenicity

not specified
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA16606845

rs_1057521734

3 SubmittersRCV000418421 RCV000691460 RCV002356562

NM_007294.4(BRCA1):c.1248A>G (p.Leu416=)

SNV
Germline

Chr17:43094283

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA16607277

rs_1057522369

7 SubmittersRCV000423735 RCV000561810 RCV000541302 RCV003477923 RCV004000434

NM_000059.4(BRCA2):c.2239G>A (p.Glu747Lys)

SNV
Germline

Chr13:32336594

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified

Criteria Provided
Conflicting Classifications

CA16607460

rs_878853561

6 SubmittersRCV000431436 RCV001861518 RCV002429388 RCV006273756

NM_000059.4(BRCA2):c.3989A>G (p.Asn1330Ser)

SNV
Germline

Chr13:32338344

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA16607464

rs_1057520792

5 SubmittersRCV000442000 RCV000775925 RCV001038220

NM_000059.4(BRCA2):c.6979T>C (p.Leu2327=)

SNV
Germline

Chr13:32346868

Conflicting classifications of pathogenicity

not specified
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA16607480

rs_959097768

6 SubmittersRCV000422532 RCV000460365 RCV000567235 RCV003477924 RCV004805009

NM_000059.4(BRCA2):c.9995C>G (p.Ser3332Cys)

SNV
Germline

Chr13:32398508

Conflicting classifications of pathogenicity

not specified
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA16607505

rs_876658246

4 SubmittersRCV000432460 RCV001218105 RCV002379292

NM_007294.4(BRCA1):c.5075-3C>T

SNV
Germline

Chr17:43063954

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA16607660

rs_398122690

6 SubmittersRCV000564447 RCV001077544 RCV001222915 RCV002464196

NM_007294.4(BRCA1):c.1152G>A (p.Glu384=)

SNV
Germline

Chr17:43094379

Conflicting classifications of pathogenicity

not specified
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Fanconi anemia, complementation group S

Criteria Provided
Conflicting Classifications

CA16607673

rs_1057523704

4 SubmittersRCV000441112 RCV001404803 RCV002348238 RCV005355772

NM_007294.4(BRCA1):c.5277+6G>T

SNV
Germline

Chr17:43057046

Conflicting classifications of pathogenicity

not specified
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA16608433

rs_1057523590

5 SubmittersRCV000427419 RCV001076716 RCV001237568

NM_007294.4(BRCA1):c.-16A>G

SNV
Germline

Chr17:43124112

Conflicting classifications of pathogenicity

not specified
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA053947

rs_777262055

5 SubmittersRCV000424886 RCV000692018 RCV000776486 RCV001078058

NM_007294.4(BRCA1):c.-20+13C>T

SNV
Germline

Chr17:43125258

Conflicting classifications of pathogenicity

not specified
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA055026

rs_770368390

3 SubmittersRCV000440746 RCV000936172 RCV001122392

NM_007294.4(BRCA1):c.2225A>G (p.Asn742Ser)

SNV
Germline

Chr17:43093306

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
not specified
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10597551

rs_1060499618

4 SubmittersRCV000460372 RCV000780978 RCV003157511 RCV005090899

NM_000465.4(BARD1):c.1032T>A (p.Ser344Arg)

SNV
Germline

Chr2:214780842

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
BARD1-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA16610651

rs_1060501293

7 SubmittersRCV000474001 RCV000565182 RCV001284377 RCV006261701 RCV005600921

NM_000465.4(BARD1):c.977A>G (p.Asn326Ser)

SNV
Germline

Chr2:214780897

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA2090354

rs_779960429

6 SubmittersRCV000456378 RCV000575266 RCV001030669 RCV001800675 RCV006268784

NM_000179.3(MSH6):c.1660C>T (p.Arg554Cys)

SNV
Germline

Chr2:47799643

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Endometrial carcinoma
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA067976

rs_775716798

8 SubmittersRCV000473757 RCV000580839 RCV001030493 RCV001566013 RCV004568055 RCV004806326

NM_002485.5(NBN):c.37+6G>A

SNV
Germline

Chr8:89984519

Conflicting classifications of pathogenicity

Microcephaly, normal intelligence and immunodeficiency
Condition: not provided
not specified
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA4803096

rs_540868733

8 SubmittersRCV000457854 RCV001721502 RCV001821292 RCV005355866

NM_000059.4(BRCA2):c.632-2A>C

SNV
Germline

Chr13:32329441

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA16613815

rs_397507842

3 SubmittersRCV000462608 RCV000562710 RCV004999463

NM_000059.4(BRCA2):c.731A>G (p.Asp244Gly)

SNV
Germline

Chr13:32330968

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified

Criteria Provided
Conflicting Classifications

CA16613820

rs_1060502473

4 SubmittersRCV000457047 RCV001180855 RCV006273783

NM_000059.4(BRCA2):c.1082A>G (p.Asn361Ser)

SNV
Germline

Chr13:32332560

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA16613829

rs_1060502495

2 SubmittersRCV000458230 RCV003157554

NM_000059.4(BRCA2):c.1831T>G (p.Ser611Ala)

SNV
Germline

Chr13:32333309

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA16613843

rs_1060502431

2 SubmittersRCV000463684 RCV003157536

NM_000059.4(BRCA2):c.1867A>G (p.Asn623Asp)

SNV
Germline

Chr13:32333345

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA16613846

rs_1060502388

3 SubmittersRCV000466100 RCV000564189

NM_000059.4(BRCA2):c.1973C>T (p.Ser658Phe)

SNV
Germline

Chr13:32336328

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA6940570

rs_775060172

3 SubmittersRCV000463284 RCV001176131

NM_000059.4(BRCA2):c.2362G>A (p.Gly788Ser)

SNV
Germline

Chr13:32336717

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
not specified
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA16613860

rs_1060502434

5 SubmittersRCV000470991 RCV001194023 RCV001188078

NM_000059.4(BRCA2):c.2540G>A (p.Arg847Lys)

SNV
Germline

Chr13:32336895

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA16613862

rs_1060502457

3 SubmittersRCV000465737 RCV003157543

NM_000059.4(BRCA2):c.2924T>A (p.Ile975Asn)

SNV
Germline

Chr13:32337279

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified

Criteria Provided
Conflicting Classifications

CA16613864

rs_398122756

11 SubmittersRCV000466456 RCV000588340 RCV000624980 RCV002436435 RCV002268084

NM_000059.4(BRCA2):c.3069C>A (p.Asn1023Lys)

SNV
Germline

Chr13:32337424

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA6940660

rs_759181823

5 SubmittersRCV000459905 RCV000662934 RCV001191078

NM_000059.4(BRCA2):c.3122G>C (p.Ser1041Thr)

SNV
Germline

Chr13:32337477

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA16613866

rs_276174832

8 SubmittersRCV000469157 RCV000663133 RCV000773051 RCV002282154 RCV004591319

NM_000059.4(BRCA2):c.3192A>G (p.Ser1064=)

SNV
Germline

Chr13:32337547

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA16613869

rs_1060504617

5 SubmittersRCV000459155 RCV001180856 RCV005239051 RCV004999503

NM_000059.4(BRCA2):c.3251G>A (p.Ser1084Asn)

SNV
Germline

Chr13:32337606

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA6940684

rs_543748012

8 SubmittersRCV000477381 RCV000773251 RCV001712318 RCV003488624 RCV004802038

NM_000059.4(BRCA2):c.3836A>G (p.Asn1279Ser)

SNV
Germline

Chr13:32338191

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified
Familial cancer of breast
Condition: not provided
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA16613874

rs_1060502384

9 SubmittersRCV000474984 RCV000509695 RCV002465659 RCV003607287 RCV004591318 RCV004801999

NM_000059.4(BRCA2):c.4117A>G (p.Met1373Val)

SNV
Germline

Chr13:32338472

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA6940749

rs_781119815

3 SubmittersRCV000464729 RCV003157537

NM_000059.4(BRCA2):c.4381T>C (p.Ser1461Pro)

SNV
Germline

Chr13:32338736

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA16613884

rs_1060502490

3 SubmittersRCV000467486 RCV002329059

NM_000059.4(BRCA2):c.4504C>G (p.Gln1502Glu)

SNV
Germline

Chr13:32338859

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA16613885

rs_1060502425

4 SubmittersRCV000458369 RCV000985527 RCV002339165

NM_000059.4(BRCA2):c.4861T>G (p.Cys1621Gly)

SNV
Germline

Chr13:32339216

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified

Criteria Provided
Conflicting Classifications

CA16613886

rs_1060502419

5 SubmittersRCV000459778 RCV000580354 RCV001805070

NM_000059.4(BRCA2):c.5275G>C (p.Asp1759His)

SNV
Germline

Chr13:32339630

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA16613889

rs_1060502456

2 SubmittersRCV000468148 RCV003157541

NM_000059.4(BRCA2):c.5696A>G (p.Asp1899Gly)

SNV
Germline

Chr13:32340051

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA16613894

rs_1060502461

3 SubmittersRCV000462894 RCV003157546

NM_000059.4(BRCA2):c.5885T>C (p.Ile1962Thr)

SNV
Germline

Chr13:32340240

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
not specified
Hereditary cancer-predisposing syndrome
Breast and/or ovarian cancer
Breast-ovarian cancer, familial, susceptibility to, 2
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer
Condition: not provided

Criteria Provided
Conflicting Classifications

CA16613899

rs_1060502377

13 SubmittersRCV000457036 RCV000499719 RCV000564384 RCV000770729 RCV000989045 RCV005365323 RCV004701506 RCV005230401

NM_000059.4(BRCA2):c.6530T>C (p.Ile2177Thr)

SNV
Germline

Chr13:32340885

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
8 conditions
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA16613906

rs_1060502462

6 SubmittersRCV000458606 RCV000776542 RCV002496773 RCV004802008

NM_000059.4(BRCA2):c.681+1G>T

SNV
Germline

Chr13:32329493

Pathogenic

Hereditary breast ovarian cancer syndrome

Criteria Provided
Single Submitter

CA16613912

rs_398122565

1 SubmittersRCV000456729

NM_000059.4(BRCA2):c.6691G>T (p.Ala2231Ser)

SNV
Germline

Chr13:32341046

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA16613914

rs_758379999

4 SubmittersRCV000457998 RCV003157528

NM_000059.4(BRCA2):c.6840G>T (p.Val2280=)

SNV
Germline

Chr13:32341195

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified

Criteria Provided
Conflicting Classifications

CA16613920

rs_1060504620

3 SubmittersRCV001430441 RCV002367601 RCV005239052

NM_000059.4(BRCA2):c.993A>C (p.Lys331Asn)

SNV
Germline

Chr13:32332471

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA16613923

rs_1060502486

3 SubmittersRCV000457199 RCV003157552

NM_000059.4(BRCA2):c.1127T>C (p.Phe376Ser)

SNV
Germline

Chr13:32332605

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
not specified
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA16613925

rs_80358410

8 SubmittersRCV000476619 RCV000758858 RCV000775932 RCV001199865 RCV004802012

NM_000059.4(BRCA2):c.7051G>T (p.Ala2351Ser)

SNV
Germline

Chr13:32354904

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA16613928

rs_80358930

8 SubmittersRCV000469511 RCV001025974 RCV001529264 RCV004000813

NM_000059.4(BRCA2):c.7162A>G (p.Thr2388Ala)

SNV
Germline

Chr13:32355015

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA16613931

rs_1060502390

6 SubmittersRCV000469239 RCV000615171 RCV000574955 RCV003477975 RCV004802000

NM_000059.4(BRCA2):c.1583A>G (p.Asn528Ser)

SNV
Germline

Chr13:32333061

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA16613933

rs_1060502393

5 SubmittersRCV000464630 RCV000570319 RCV006259972

NM_000059.4(BRCA2):c.1714G>C (p.Val572Leu)

SNV
Germline

Chr13:32333192

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
not specified
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA16613934

rs_587782713

6 SubmittersRCV000475636 RCV000506803 RCV000989003 RCV001192344

NM_000059.4(BRCA2):c.1949A>G (p.Asn650Ser)

SNV
Germline

Chr13:32336304

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA6940566

rs_773619645

7 SubmittersRCV000476081 RCV000772732 RCV001532895 RCV004000812

NM_000059.4(BRCA2):c.2269A>G (p.Lys757Glu)

SNV
Germline

Chr13:32336624

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA16613937

rs_886040419

3 SubmittersRCV000456308 RCV002446822

NM_000059.4(BRCA2):c.2841G>T (p.Leu947Phe)

SNV
Germline

Chr13:32337196

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6940634

rs_769971508

6 SubmittersRCV000462471 RCV000574394 RCV001778965 RCV004722781

NM_000059.4(BRCA2):c.2864A>G (p.Asn955Ser)

SNV
Germline

Chr13:32337219

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA16613941

rs_1060502435

2 SubmittersRCV000476520 RCV003157538

NM_000059.4(BRCA2):c.3152T>C (p.Leu1051Ser)

SNV
Germline

Chr13:32337507

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA6940671

rs_778281493

5 SubmittersRCV000470166 RCV000571433 RCV000989021

NM_000059.4(BRCA2):c.3155C>T (p.Ala1052Val)

SNV
Germline

Chr13:32337510

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA16613944

rs_1060502453

5 SubmittersRCV000468157 RCV000482169 RCV002323727

NM_000059.4(BRCA2):c.3254A>C (p.His1085Pro)

SNV
Germline

Chr13:32337609

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA16613945

rs_80358570

3 SubmittersRCV000457519 RCV003157544 RCV004000816

NM_000059.4(BRCA2):c.7807G>T (p.Ala2603Ser)

SNV
Germline

Chr13:32362524

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA16613947

rs_730881560

2 SubmittersRCV000467924 RCV004022728

NM_000059.4(BRCA2):c.7967T>A (p.Leu2656Gln)

SNV
Germline

Chr13:32362684

Likely pathogenic

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
BRCA2-related cancer predisposition

Reviewed By Expert Panel

CA16613950

rs_886037817

4 SubmittersRCV000466411 RCV001027008 RCV004802009

NM_000059.4(BRCA2):c.3529G>A (p.Asp1177Asn)

SNV
Germline

Chr13:32337884

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA16613951

rs_1060502397

3 SubmittersRCV000468498 RCV002339164

NM_000059.4(BRCA2):c.3630T>G (p.Asp1210Glu)

SNV
Germline

Chr13:32337985

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA16613952

rs_786202991

6 SubmittersRCV000461988 RCV000775808 RCV003477976 RCV002509389

NM_000059.4(BRCA2):c.8056C>G (p.Leu2686Val)

SNV
Germline

Chr13:32363258

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA16613954

rs_397507960

2 SubmittersRCV000471484 RCV005781964

NM_000059.4(BRCA2):c.3827A>T (p.Glu1276Val)

SNV
Germline

Chr13:32338182

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA16613956

rs_1060502487

2 SubmittersRCV000466876 RCV003157553

NM_000059.4(BRCA2):c.8222A>G (p.Lys2741Arg)

SNV
Germline

Chr13:32363424

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA16613957

rs_1060502428

4 SubmittersRCV000474199 RCV002411477 RCV003483623 RCV005426018

NM_000059.4(BRCA2):c.8347A>G (p.Thr2783Ala)

SNV
Germline

Chr13:32370417

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA16613958

rs_1060502463

3 SubmittersRCV000469561 RCV000775818

NM_000059.4(BRCA2):c.4244A>G (p.Glu1415Gly)

SNV
Germline

Chr13:32338599

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Condition: not provided
not specified
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA16613961

rs_1060502399

7 SubmittersRCV000471686 RCV000478019 RCV000781078 RCV001189703 RCV003327403

NM_000059.4(BRCA2):c.8411C>T (p.Pro2804Leu)

SNV
Germline

Chr13:32370481

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA16613964

rs_876658705

4 SubmittersRCV000464375 RCV000775812 RCV003237869

NM_000059.4(BRCA2):c.9270C>A (p.Phe3090Leu)

SNV
Germline

Chr13:32394702

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA16613971

rs_587780873

3 SubmittersRCV000476698 RCV004000818

NM_000059.4(BRCA2):c.4536T>A (p.Arg1512=)

SNV
Germline

Chr13:32338891

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA16613972

rs_1060504635

5 SubmittersRCV000472337 RCV003584620 RCV004002147 RCV004772930

NM_000059.4(BRCA2):c.4709G>A (p.Arg1570Lys)

SNV
Germline

Chr13:32339064

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA16613974

rs_1060502472

4 SubmittersRCV000472081 RCV002329058 RCV005247045

NM_000059.4(BRCA2):c.9442G>T (p.Ala3148Ser)

SNV
Germline

Chr13:32394874

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
not specified
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA16613976

rs_949790323

7 SubmittersRCV000470163 RCV000508342 RCV000570747 RCV000989087 RCV005355838

NM_000059.4(BRCA2):c.4785G>T (p.Gln1595His)

SNV
Germline

Chr13:32339140

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA16613977

rs_1060502499

3 SubmittersRCV000476642 RCV001357236 RCV003157555

NM_000059.4(BRCA2):c.5186A>C (p.Lys1729Thr)

SNV
Germline

Chr13:32339541

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified

Criteria Provided
Conflicting Classifications

CA6940852

rs_772860507

5 SubmittersRCV000474437 RCV000772754 RCV001778966

NM_000059.4(BRCA2):c.5402C>T (p.Pro1801Leu)

SNV
Germline

Chr13:32339757

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA16613981

rs_1060502429

3 SubmittersRCV000459413 RCV003157535

NM_000059.4(BRCA2):c.5738G>A (p.Cys1913Tyr)

SNV
Germline

Chr13:32340093

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA16613982

rs_1060502460

4 SubmittersRCV000475767 RCV000580620

NM_000059.4(BRCA2):c.5861C>T (p.Thr1954Ile)

SNV
Germline

Chr13:32340216

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Malignant tumor of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA16613983

rs_1060502413

4 SubmittersRCV000473726 RCV000500717 RCV001524489

NM_000059.4(BRCA2):c.5900A>T (p.Lys1967Met)

SNV
Germline

Chr13:32340255

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA16613988

rs_959089047

4 SubmittersRCV000458121 RCV000561855 RCV004802011

NM_000059.4(BRCA2):c.6246A>C (p.Glu2082Asp)

SNV
Germline

Chr13:32340601

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA16613989

rs_1060502474

3 SubmittersRCV000472820 RCV002365643

NM_000059.4(BRCA2):c.6271A>G (p.Ser2091Gly)

SNV
Germline

Chr13:32340626

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA16613992

rs_398122550

6 SubmittersRCV000465291 RCV001524355 RCV002248685 RCV003477979

NM_000059.4(BRCA2):c.6388T>C (p.Phe2130Leu)

SNV
Germline

Chr13:32340743

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA16613994

rs_929941099

5 SubmittersRCV000459896 RCV001025207 RCV004999464

NM_000059.4(BRCA2):c.6697G>C (p.Ala2233Pro)

SNV
Germline

Chr13:32341052

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA16614001

rs_1060502396

3 SubmittersRCV000473859 RCV003157529

NM_000059.4(BRCA2):c.8732C>G (p.Ala2911Gly)

SNV
Germline

Chr13:32376769

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified
Familial cancer of breast
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA6941287

rs_80359130

7 SubmittersRCV000468443 RCV000509664 RCV000780042 RCV003463915 RCV004802003

NM_000059.4(BRCA2):c.8766T>G (p.Ser2922Arg)

SNV
Germline

Chr13:32379328

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA16614020

rs_1060502497

3 SubmittersRCV000460726 RCV000580679

NM_000059.4(BRCA2):c.426-1G>A

SNV
Germline

Chr13:32326100

Likely pathogenic

Hereditary breast ovarian cancer syndrome

Criteria Provided
Single Submitter

CA16614098

rs_1060502485

1 SubmittersRCV000470985

NM_000059.4(BRCA2):c.636A>G (p.Arg212=)

SNV
Germline

Chr13:32329447

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA16614101

rs_950724350

5 SubmittersRCV000469866 RCV000563488 RCV000588569 RCV001534256

NM_000059.4(BRCA2):c.955A>G (p.Asn319Asp)

SNV
Germline

Chr13:32332433

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA16614103

rs_1060502491

5 SubmittersRCV000462690 RCV000583105 RCV004000822

NM_000059.4(BRCA2):c.2027G>C (p.Cys676Ser)

SNV
Germline

Chr13:32336382

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA16614118

rs_1060502422

2 SubmittersRCV000461375 RCV003157533

NM_000059.4(BRCA2):c.3112T>C (p.Tyr1038His)

SNV
Germline

Chr13:32337467

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA16614131

rs_1060502423

3 SubmittersRCV000460299 RCV003157534

NM_000059.4(BRCA2):c.3191C>A (p.Ser1064Ter)

SNV
Germline

Chr13:32337546

Pathogenic

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided

Reviewed By Expert Panel

CA16614134

rs_864622609

5 SubmittersRCV000456624 RCV000661562 RCV000570603 RCV003476089 RCV006259975

NM_000059.4(BRCA2):c.3769C>A (p.Pro1257Thr)

SNV
Germline

Chr13:32338124

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA16614137

rs_1060502438

3 SubmittersRCV000466270 RCV003157539

NM_000059.4(BRCA2):c.4024A>G (p.Ser1342Gly)

SNV
Germline

Chr13:32338379

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA16614147

rs_1060502476

7 SubmittersRCV000481471 RCV000476675 RCV000564249 RCV000662790

NM_000059.4(BRCA2):c.4347C>A (p.Phe1449Leu)

SNV
Germline

Chr13:32338702

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA16614149

rs_1060502450

5 SubmittersRCV000466624 RCV001183455 RCV004802006

NM_000059.4(BRCA2):c.4798A>G (p.Asn1600Asp)

SNV
Germline

Chr13:32339153

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6940814

rs_774484160

5 SubmittersRCV000456945 RCV000567251 RCV001283925

NM_000059.4(BRCA2):c.4970A>G (p.Asn1657Ser)

SNV
Germline

Chr13:32339325

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA16614154

rs_1060502382

2 SubmittersRCV000459262 RCV003157524

NM_000059.4(BRCA2):c.4988T>C (p.Val1663Ala)

SNV
Germline

Chr13:32339343

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA16614162

rs_1060502436

5 SubmittersRCV000461650 RCV000775807 RCV004701507

NM_000059.4(BRCA2):c.5081G>A (p.Arg1694Lys)

SNV
Germline

Chr13:32339436

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA16614170

rs_753721331

5 SubmittersRCV000461678 RCV002272244 RCV003157551 RCV003607288

NM_000059.4(BRCA2):c.5864C>T (p.Ser1955Leu)

SNV
Germline

Chr13:32340219

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA16614179

rs_80358815

4 SubmittersRCV000476307 RCV000775930

NM_000059.4(BRCA2):c.6084A>C (p.Glu2028Asp)

SNV
Germline

Chr13:32340439

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA16614188

rs_747773227

4 SubmittersRCV000458386 RCV002356684 RCV004802007

NM_000059.4(BRCA2):c.6089A>G (p.Asn2030Ser)

SNV
Germline

Chr13:32340444

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA16614190

rs_1060502402

3 SubmittersRCV000465240 RCV003157530

NM_000059.4(BRCA2):c.6476A>G (p.Gln2159Arg)

SNV
Germline

Chr13:32340831

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified

Criteria Provided
Conflicting Classifications

CA16614195

rs_763486267

5 SubmittersRCV000462034 RCV000573880 RCV004596195

NM_000059.4(BRCA2):c.6631G>T (p.Val2211Phe)

SNV
Germline

Chr13:32340986

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA16614197

rs_1060502445

4 SubmittersRCV000466730 RCV002365642 RCV004722782

NM_000059.4(BRCA2):c.6697G>A (p.Ala2233Thr)

SNV
Germline

Chr13:32341052

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA16614198

rs_1060502396

3 SubmittersRCV000471117 RCV003157545 RCV004999465

NM_000059.4(BRCA2):c.6812A>G (p.Lys2271Arg)

SNV
Germline

Chr13:32341167

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA16614200

rs_577406621

2 SubmittersRCV000469676 RCV003157547

NM_000059.4(BRCA2):c.7676C>G (p.Ser2559Cys)

SNV
Germline

Chr13:32357800

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 2
Familial pancreatic carcinoma
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA16614210

rs_1060502421

7 SubmittersRCV000473973 RCV001026696 RCV001764422 RCV003476086 RCV004000811 RCV005355839

NM_000059.4(BRCA2):c.7722G>A (p.Trp2574Ter)

SNV
Germline/somatic

Chr13:32357846

Pathogenic

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Malignant tumor of urinary bladder
Familial cancer of breast

Reviewed By Expert Panel

CA16614212

rs_1060502433

6 SubmittersRCV000472083 RCV000563168 RCV000661664 RCV003332176 RCV003476088

NM_000059.4(BRCA2):c.7876T>A (p.Trp2626Arg)

SNV
Germline

Chr13:32362593

Pathogenic/Likely pathogenic

Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA16614217

rs_1060502459

2 SubmittersRCV000465347 RCV005434936

NM_000059.4(BRCA2):c.7993G>T (p.Asp2665Tyr)

SNV
Germline

Chr13:32363195

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified

Criteria Provided
Conflicting Classifications

CA16614221

rs_921017191

4 SubmittersRCV000475758 RCV000580611 RCV002298600

NM_000059.4(BRCA2):c.1087A>G (p.Thr363Ala)

SNV
Germline

Chr13:32332565

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA16614223

rs_1060502440

3 SubmittersRCV000464652 RCV003157540

NM_000059.4(BRCA2):c.8077A>G (p.Ile2693Val)

SNV
Germline

Chr13:32363279

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified

Criteria Provided
Conflicting Classifications

CA16614227

rs_1060502493

4 SubmittersRCV000457485 RCV003338599 RCV006458377

NM_000059.4(BRCA2):c.8488-10A>G

SNV
Germline

Chr13:32370946

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified

Criteria Provided
Conflicting Classifications

CA6941249

rs_749196803

4 SubmittersRCV000480693 RCV001089135 RCV001190857 RCV001194059

NM_000059.4(BRCA2):c.1845C>A (p.Asn615Lys)

SNV
Germline

Chr13:32333323

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA16614236

rs_941500711

6 SubmittersRCV000462345 RCV001284558 RCV002411478 RCV004000820

NM_000059.4(BRCA2):c.2153A>C (p.Glu718Ala)

SNV
Germline

Chr13:32336508

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA16614243

rs_1060502427

3 SubmittersRCV000460441 RCV002429512

NM_000059.4(BRCA2):c.2359A>G (p.Arg787Gly)

SNV
Germline

Chr13:32336714

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA16614246

rs_1060502451

3 SubmittersRCV000468693 RCV001015282

NM_000059.4(BRCA2):c.2383T>C (p.Ser795Pro)

SNV
Germline

Chr13:32336738

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA16614249

rs_878853563

2 SubmittersRCV000459755 RCV003157531

NM_000059.4(BRCA2):c.2590C>T (p.Gln864Ter)

SNV
Germline

Chr13:32336945

Pathogenic

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided

Reviewed By Expert Panel

CA16614253

rs_1060502414

4 SubmittersRCV000461340 RCV000661527 RCV002429511 RCV002480411

NM_000059.4(BRCA2):c.2661G>C (p.Glu887Asp)

SNV
Germline

Chr13:32337016

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA16614255

rs_876659892

5 SubmittersRCV000467039 RCV002429513 RCV004000815

NM_000059.4(BRCA2):c.3077A>G (p.Lys1026Arg)

SNV
Germline

Chr13:32337432

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA16614262

rs_1060502380

7 SubmittersRCV000474203 RCV000561730 RCV004000807 RCV005230402 RCV005431681

NM_000059.4(BRCA2):c.3106G>T (p.Glu1036Ter)

SNV
Germline

Chr13:32337461

Pathogenic

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Familial cancer of breast
Familial colorectal cancer type X
Condition: not provided

Reviewed By Expert Panel

CA16614263

rs_1060502449

8 SubmittersRCV000456163 RCV000567715 RCV000661471 RCV003463918 RCV005355840 RCV005230403

NM_000059.4(BRCA2):c.3227T>C (p.Val1076Ala)

SNV
Germline

Chr13:32337582

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Malignant tumor of breast
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA16614265

rs_1060502498

8 SubmittersRCV000477400 RCV000564131 RCV000985497 RCV001355655 RCV005421802

NM_000059.4(BRCA2):c.3252T>G (p.Ser1084Arg)

SNV
Germline

Chr13:32337607

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA16614266

rs_1060502412

4 SubmittersRCV000474282 RCV002323726 RCV004000810

NM_000059.4(BRCA2):c.3482A>G (p.Asp1161Gly)

SNV
Germline

Chr13:32337837

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA16614289

rs_1060502458

5 SubmittersRCV000469662 RCV002451114 RCV003153626 RCV003987541

NM_000059.4(BRCA2):c.3515C>A (p.Ser1172Ter)

SNV
Germline

Chr13:32337870

Pathogenic

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Reviewed By Expert Panel

CA16614291

rs_80358600

2 SubmittersRCV000460996 RCV000661679

NM_000059.4(BRCA2):c.3595G>A (p.Asp1199Asn)

SNV
Germline

Chr13:32337950

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA16614292

rs_1060502404

9 SubmittersRCV000476241 RCV000484479 RCV001192346 RCV002466506 RCV004802004

NM_000059.4(BRCA2):c.3704A>G (p.Gln1235Arg)

SNV
Germline

Chr13:32338059

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA16614294

rs_1060502424

4 SubmittersRCV000467120 RCV002348318

NM_000059.4(BRCA2):c.4039G>A (p.Val1347Ile)

SNV
Germline

Chr13:32338394

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA16614299

rs_80358653

4 SubmittersRCV000470587 RCV003157548 RCV004000817

NM_000059.4(BRCA2):c.4085A>G (p.His1362Arg)

SNV
Germline

Chr13:32338440

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA16614300

rs_1060502441

6 SubmittersRCV000474555 RCV000775929 RCV002250631

NM_000059.4(BRCA2):c.4335A>C (p.Lys1445Asn)

SNV
Germline

Chr13:32338690

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA16614301

rs_1060502480

2 SubmittersRCV000457135 RCV003157550

NM_000059.4(BRCA2):c.4414A>G (p.Lys1472Glu)

SNV
Germline

Chr13:32338769

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Malignant tumor of breast
Hereditary cancer-predisposing syndrome
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA6940778

rs_757821270

5 SubmittersRCV000470451 RCV000501166 RCV001022450 RCV004802002

NM_000059.4(BRCA2):c.4597A>G (p.Lys1533Glu)

SNV
Germline

Chr13:32338952

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA16614306

rs_1060502418

5 SubmittersRCV000464981 RCV000985530 RCV003157532 RCV004802005

NM_000059.4(BRCA2):c.4676T>G (p.Phe1559Cys)

SNV
Germline

Chr13:32339031

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
not specified
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA16614311

rs_1060502411

5 SubmittersRCV000466045 RCV000508294 RCV000509834

NM_000059.4(BRCA2):c.5373A>G (p.Ile1791Met)

SNV
Germline

Chr13:32339728

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA16614316

rs_1060502406

7 SubmittersRCV000458614 RCV000775800 RCV002509388 RCV004816677

NM_000059.4(BRCA2):c.5687C>T (p.Ala1896Val)

SNV
Germline

Chr13:32340042

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA16614323

rs_730881539

3 SubmittersRCV000474407 RCV000989042 RCV003157526

NM_000059.4(BRCA2):c.5764G>T (p.Ala1922Ser)

SNV
Germline

Chr13:32340119

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA16614327

rs_397507361

4 SubmittersRCV000476228 RCV003157542 RCV003477977

NM_000059.4(BRCA2):c.6044T>C (p.Leu2015Ser)

SNV
Germline

Chr13:32340399

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA16614330

rs_587776468

5 SubmittersRCV000469766 RCV000581542 RCV004000819

NM_000059.4(BRCA2):c.6272G>C (p.Ser2091Thr)

SNV
Germline

Chr13:32340627

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA16614333

rs_1060502389

2 SubmittersRCV000467843 RCV003157527

NM_000059.4(BRCA2):c.6557C>T (p.Ser2186Leu)

SNV
Germline

Chr13:32340912

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA16614339

rs_397507867

2 SubmittersRCV000475735 RCV003157525

NM_000059.4(BRCA2):c.6837A>G (p.Leu2279=)

SNV
Germline

Chr13:32341192

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA16614341

rs_431825346

2 SubmittersRCV000458859 RCV000563047

NM_000059.4(BRCA2):c.7605T>G (p.Cys2535Trp)

SNV
Germline

Chr13:32356597

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 2
not specified

Criteria Provided
Conflicting Classifications

CA16614351

rs_966152147

7 SubmittersRCV000469552 RCV000480630 RCV000570362 RCV003463914 RCV004000808 RCV005239033

NM_000059.4(BRCA2):c.8169T>A (p.Asp2723Glu)

SNV
Germline

Chr13:32363371

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group D1
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA16614371

rs_1060502432

9 SubmittersRCV000467822 RCV000568974 RCV003476087 RCV005863157 RCV006259973

NM_000059.4(BRCA2):c.8544A>C (p.Glu2848Asp)

SNV
Germline

Chr13:32371012

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA16614373

rs_786201871

2 SubmittersRCV000474464 RCV001017976

NM_000059.4(BRCA2):c.8875G>A (p.Glu2959Lys)

SNV
Germline

Chr13:32379437

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
8 conditions

Criteria Provided
Conflicting Classifications

CA16614376

rs_786202920

4 SubmittersRCV000463176 RCV000776335 RCV005010363

NM_000059.4(BRCA2):c.8982A>T (p.Ser2994=)

SNV
Germline

Chr13:32379778

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
not specified
Hereditary cancer-predisposing syndrome
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA16614378

rs_1060504623

6 SubmittersRCV000472545 RCV000615420 RCV001188081 RCV004802036

NM_000059.4(BRCA2):c.9015A>G (p.Arg3005=)

SNV
Germline

Chr13:32379811

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Familial prostate cancer

Criteria Provided
Conflicting Classifications

CA16614385

rs_1060502477

4 SubmittersRCV000463929 RCV000677098 RCV005365325

NM_000059.4(BRCA2):c.9035C>G (p.Ala3012Gly)

SNV
Germline

Chr13:32379831

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA16614386

rs_768335521

5 SubmittersRCV000456830 RCV000589531 RCV002374782 RCV004802001

NM_000059.4(BRCA2):c.9249A>G (p.Lys3083=)

SNV
Germline

Chr13:32380138

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA16614392

rs_80359191

3 SubmittersRCV000472575 RCV003477978 RCV005781963

NM_000059.4(BRCA2):c.9284A>G (p.Asp3095Gly)

SNV
Germline

Chr13:32394716

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA16614398

rs_1060502443

5 SubmittersRCV000461281 RCV000757042 RCV002374783

NM_000059.4(BRCA2):c.10124G>A (p.Ser3375Asn)

SNV
Germline

Chr13:32398637

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
not specified
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA16614409

rs_1060502452

3 SubmittersRCV000461534 RCV000609346 RCV002451113

NM_000059.4(BRCA2):c.10249T>C (p.Tyr3417His)

SNV
Germline

Chr13:32398762

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
not specified
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6941484

rs_535952730

6 SubmittersRCV000474923 RCV000615202 RCV000574730 RCV001284407

NM_000057.4(BLM):c.1044G>A (p.Met348Ile)

SNV
Germline

Chr15:90754895

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Bloom syndrome
not specified
BLM-related disorder

Criteria Provided
Conflicting Classifications

CA7738414

rs_184657475

7 SubmittersRCV000566370 RCV000590533 RCV001030683 RCV001080152 RCV003151068 RCV003899947

NM_024675.4(PALB2):c.3256C>G (p.Arg1086Gly)

SNV
Germline

Chr16:23607958

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Hereditary breast ovarian cancer syndrome
Familial pancreatic carcinoma

Criteria Provided
Conflicting Classifications

CA16615072

rs_587776527

6 SubmittersRCV000461441 RCV000773077 RCV003321613 RCV003319358 RCV005355852

NM_024675.4(PALB2):c.127A>G (p.Lys43Glu)

SNV
Germline

Chr16:23637934

Conflicting classifications of pathogenicity

Familial cancer of breast
Condition: not provided
Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group N
Pancreatic cancer, susceptibility to, 3
Familial cancer of breast
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA7963836

rs_765125459

12 SubmittersRCV000474623 RCV000485071 RCV000580520 RCV002481445 RCV005859345

NM_024675.4(PALB2):c.661G>A (p.Val221Ile)

SNV
Germline

Chr16:23635885

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA16615301

rs_1060502773

7 SubmittersRCV000462286 RCV000569599 RCV003324751 RCV005355851

NM_007294.4(BRCA1):c.*528G>C

SNV
Germline

Chr17:43045150

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Fanconi anemia, complementation group S

Criteria Provided
Conflicting Classifications

CA16615336

rs_1060504556

2 SubmittersRCV000458128 RCV005355896

NM_007294.4(BRCA1):c.5566C>A (p.Pro1856Thr)

SNV
Germline

Chr17:43045704

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10590193

rs_80357274

3 SubmittersRCV000459949 RCV001024281

NM_007294.4(BRCA1):c.5350G>A (p.Val1784Ile)

SNV
Germline

Chr17:43049177

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Pancreatic cancer, susceptibility to, 4
Fanconi anemia, complementation group S
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10590763

rs_1060502328

6 SubmittersRCV000475234 RCV000662930 RCV005018782 RCV005781962 RCV006443449

NM_007294.4(BRCA1):c.5131A>C (p.Lys1711Gln)

SNV
Germline

Chr17:43063895

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10591282

rs_886040272

3 SubmittersRCV000463327 RCV001078104 RCV002348316

NM_007294.4(BRCA1):c.5101C>A (p.Leu1701Met)

SNV
Germline

Chr17:43063925

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA10591328

rs_910555398

9 SubmittersRCV000469376 RCV000586375 RCV000775750 RCV001072254

NM_007294.4(BRCA1):c.4894G>A (p.Val1632Met)

SNV
Germline

Chr17:43071020

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA053429

rs_770193975

5 SubmittersRCV000474239 RCV000774938 RCV001072799 RCV004787726

NM_007294.4(BRCA1):c.2930C>T (p.Pro977Leu)

SNV
Germline

Chr17:43092601

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast and/or ovarian cancer
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA058213

rs_141465583

6 SubmittersRCV000470122 RCV000575414 RCV000770745 RCV001353611 RCV004000803

NM_007294.4(BRCA1):c.2414G>A (p.Cys805Tyr)

SNV
Germline

Chr17:43093117

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10597181

rs_1060502352

3 SubmittersRCV000473712 RCV003157519

NM_007294.4(BRCA1):c.2273T>A (p.Leu758Ter)

SNV
Germline

Chr17:43093258

Pathogenic

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1

Reviewed By Expert Panel

CA10597455

rs_1060502334

2 SubmittersRCV000475494 RCV000661023

NM_007294.4(BRCA1):c.2131A>C (p.Lys711Gln)

SNV
Germline

Chr17:43093400

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10597744

rs_747046197

2 SubmittersRCV000466539 RCV003157517

NM_007294.4(BRCA1):c.2048A>G (p.Lys683Arg)

SNV
Germline

Chr17:43093483

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA10597908

rs_1060502357

6 SubmittersRCV000469824 RCV000481276 RCV000509924 RCV004000805

NM_007294.4(BRCA1):c.1930T>A (p.Cys644Ser)

SNV
Germline

Chr17:43093601

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA057641

rs_753521391

6 SubmittersRCV000462698 RCV000775172 RCV001125930

NM_007294.4(BRCA1):c.1856A>G (p.His619Arg)

SNV
Germline

Chr17:43093675

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
BRCA1-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA10598309

rs_771890863

6 SubmittersRCV000470518 RCV001186645 RCV004801997

NM_007294.4(BRCA1):c.1054G>A (p.Glu352Lys)

SNV
Germline

Chr17:43094477

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10599953

rs_80357472

2 SubmittersRCV000465497 RCV003157518

NM_007294.4(BRCA1):c.3734G>A (p.Ser1245Asn)

SNV
Germline

Chr17:43091797

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10594499

rs_1060502348

5 SubmittersRCV000475050 RCV000775766 RCV003238761

NM_007294.4(BRCA1):c.1008A>G (p.Thr336=)

SNV
Germline

Chr17:43094523

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
BRCA1-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA16615388

rs_1060504568

8 SubmittersRCV000457862 RCV000506233 RCV000565896 RCV003478031 RCV004802035

NM_007294.4(BRCA1):c.3629A>G (p.Glu1210Gly)

SNV
Germline

Chr17:43091902

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
BRCA1-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA501050

rs_1060502347

5 SubmittersRCV000475464 RCV002508934 RCV002451112 RCV004801996

NM_007294.4(BRCA1):c.2909A>T (p.Lys970Ile)

SNV
Germline

Chr17:43092622

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA10596173

rs_756559408

4 SubmittersRCV000468440 RCV000580777 RCV004000806

NM_007294.4(BRCA1):c.2867C>G (p.Ser956Cys)

SNV
Germline

Chr17:43092664

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10596252

rs_1060502336

4 SubmittersRCV000465781 RCV003157515 RCV004783789

NM_007294.4(BRCA1):c.2609C>T (p.Ala870Val)

SNV
Germline

Chr17:43092922

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA10596775

rs_1060502324

6 SubmittersRCV000460289 RCV001770344 RCV003157513 RCV003444237

NM_007294.4(BRCA1):c.2491T>G (p.Tyr831Asp)

SNV
Germline

Chr17:43093040

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10597016

rs_1060502350

5 SubmittersRCV000464267 RCV000481004 RCV001524346

NM_007294.4(BRCA1):c.2450G>T (p.Gly817Val)

SNV
Germline

Chr17:43093081

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10597107

rs_1060502365

4 SubmittersRCV000459090 RCV001015583

NM_007294.4(BRCA1):c.1929T>G (p.Ser643Arg)

SNV
Germline

Chr17:43093602

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10598167

rs_1060502361

2 SubmittersRCV000459628 RCV003157521

NM_007294.4(BRCA1):c.1021G>A (p.Asp341Asn)

SNV
Germline

Chr17:43094510

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10600018

rs_756987689

7 SubmittersRCV000461312 RCV000758783 RCV000989905 RCV000775726

NM_007294.4(BRCA1):c.1012A>G (p.Lys338Glu)

SNV
Germline

Chr17:43094519

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA10600036

rs_397508826

7 SubmittersRCV000465932 RCV000586428 RCV003157520 RCV005869469

NM_007294.4(BRCA1):c.812T>C (p.Val271Ala)

SNV
Germline

Chr17:43094719

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified

Criteria Provided
Conflicting Classifications

CA10600457

rs_753099787

3 SubmittersRCV000473978 RCV003157523 RCV004701505

NM_007294.4(BRCA1):c.5482T>G (p.Cys1828Gly)

SNV
Germline

Chr17:43045788

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10590349

rs_1060502342

4 SubmittersRCV000463014 RCV001076309 RCV002348317

NM_007294.4(BRCA1):c.5326C>T (p.Pro1776Ser)

SNV
Germline

Chr17:43051069

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10590897

rs_1800757

7 SubmittersRCV000477350 RCV000480229 RCV001072701 RCV004601175

NM_007294.4(BRCA1):c.5153-8C>A

SNV
Germline

Chr17:43063381

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
not specified

Criteria Provided
Conflicting Classifications

CA16615652

rs_1060504570

4 SubmittersRCV000460376 RCV000775723 RCV001076103 RCV003155197

NM_007294.4(BRCA1):c.4097-15T>C

SNV
Germline

Chr17:43091047

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA16615665

rs_1060504586

2 SubmittersRCV000466928 RCV000481417

NM_007294.4(BRCA1):c.4096+7G>A

SNV
Germline

Chr17:43091428

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA10593750

rs_1060504565

3 SubmittersRCV000460246 RCV002475915 RCV006452666

NM_007294.4(BRCA1):c.3929C>T (p.Thr1310Ile)

SNV
Germline

Chr17:43091602

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA059114

rs_80357257

5 SubmittersRCV000467656 RCV001021457 RCV001778964

NM_007294.4(BRCA1):c.3793A>C (p.Asn1265His)

SNV
Germline

Chr17:43091738

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10594385

rs_1060502364

4 SubmittersRCV000475532 RCV000775768

NM_007294.4(BRCA1):c.3583C>G (p.His1195Asp)

SNV
Germline

Chr17:43091948

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA10594797

rs_876659903

3 SubmittersRCV000473102 RCV003157512 RCV005600931

NM_007294.4(BRCA1):c.1769G>A (p.Ser590Asn)

SNV
Germline

Chr17:43093762

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10598488

rs_1060502349

3 SubmittersRCV000463610 RCV001013085

NM_007294.4(BRCA1):c.1721T>C (p.Leu574Pro)

SNV
Germline

Chr17:43093810

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10598587

rs_1060502341

4 SubmittersRCV000456385 RCV000569485 RCV001283889

NM_007294.4(BRCA1):c.1706A>T (p.Asn569Ile)

SNV
Germline

Chr17:43093825

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10598614

rs_1060502329

4 SubmittersRCV000471509 RCV002402272

NM_002878.4(RAD51D):c.901C>T (p.Gln301Ter)

SNV
Germline

Chr17:35101203

Likely pathogenic

Breast-ovarian cancer, familial, susceptibility to, 4
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA16615706

rs_1060502959

7 SubmittersRCV000476191 RCV000580855 RCV002279232 RCV001797727

NM_007294.4(BRCA1):c.247G>T (p.Val83Phe)

SNV
Germline

Chr17:43104922

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
BRCA1-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA10601661

rs_1060502343

4 SubmittersRCV000473880 RCV001072718 RCV002451111 RCV004801995

NM_002878.4(RAD51D):c.803G>A (p.Trp268Ter)

SNV
Germline

Chr17:35101301

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 4
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
RAD51D-related cancer predisposition

Criteria Provided
Multiple Submitters
No Conflicts

CA501240

rs_750219200

12 SubmittersRCV000475620 RCV000565505 RCV000578790 RCV003479126 RCV006554535

NM_007294.4(BRCA1):c.121C>A (p.His41Asn)

SNV
Germline

Chr17:43115739

Likely pathogenic

Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
BRCA1-related cancer predisposition

Reviewed By Expert Panel

CA10601917

rs_1060502353

5 SubmittersRCV000469043 RCV000759492 RCV001076999 RCV002365639 RCV005415429

NM_002878.4(RAD51D):c.80C>A (p.Thr27Lys)

SNV
Germline

Chr17:35119534

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 4
Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA16615737

rs_139642328

9 SubmittersRCV000473688 RCV000568530 RCV000781799 RCV000709459 RCV004999472

NM_007294.4(BRCA1):c.5259A>T (p.Arg1753Ser)

SNV
Germline

Chr17:43057070

Likely pathogenic

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Single Submitter

CA10591036

rs_771577266

2 SubmittersRCV000472087 RCV001075941

NM_007294.4(BRCA1):c.5106A>G (p.Lys1702=)

SNV
Germline

Chr17:43063920

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
not specified

Criteria Provided
Conflicting Classifications

CA16615748

rs_1060504574

5 SubmittersRCV000487079 RCV001023552 RCV001077594 RCV001411236 RCV003321624

NM_007294.4(BRCA1):c.4697C>A (p.Ser1566Tyr)

SNV
Germline

Chr17:43071217

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Familial cancer of breast
BRCA1-related disorder

Criteria Provided
Conflicting Classifications

CA10592117

rs_1060502325

6 SubmittersRCV000473049 RCV000662893 RCV001022911 RCV003607286 RCV004554778

NM_007294.4(BRCA1):c.4635C>G (p.His1545Gln)

SNV
Germline

Chr17:43074371

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10592239

rs_373686790

3 SubmittersRCV000475347 RCV001022819 RCV005243234

NM_007294.4(BRCA1):c.4028A>T (p.Asp1343Val)

SNV
Germline

Chr17:43091503

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA059047

rs_775339017

6 SubmittersRCV000467857 RCV000510024 RCV000588993 RCV002222516

NM_007294.4(BRCA1):c.3992A>G (p.Gln1331Arg)

SNV
Germline

Chr17:43091539

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10593978

rs_1060502363

3 SubmittersRCV000467046 RCV003157522

NM_007294.4(BRCA1):c.3580A>G (p.Thr1194Ala)

SNV
Germline

Chr17:43091951

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA059367

rs_369982706

3 SubmittersRCV000473570 RCV002451110

NM_007294.4(BRCA1):c.3206A>T (p.Gln1069Leu)

SNV
Germline

Chr17:43092325

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
BRCA1-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA10595566

rs_879254151

4 SubmittersRCV000460339 RCV002323725 RCV004801998

NM_007294.4(BRCA1):c.2999A>G (p.Glu1000Gly)

SNV
Germline

Chr17:43092532

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
BRCA1-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA10596001

rs_1060502330

5 SubmittersRCV000459678 RCV001017868 RCV003449138 RCV004801992

NM_007294.4(BRCA1):c.2893C>G (p.Leu965Val)

SNV
Germline

Chr17:43092638

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified
Fanconi anemia, complementation group S
Breast-ovarian cancer, familial, susceptibility to, 1
Pancreatic cancer, susceptibility to, 4

Criteria Provided
Conflicting Classifications

CA10596205

rs_1060502344

5 SubmittersRCV000469264 RCV001016835 RCV001174558 RCV005018783

NM_007294.4(BRCA1):c.1639A>C (p.Asn547His)

SNV
Germline

Chr17:43093892

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA10598760

rs_1060502351

6 SubmittersRCV000456718 RCV000510112 RCV000590361 RCV003316568

NM_007294.4(BRCA1):c.1638G>A (p.Met546Ile)

SNV
Germline

Chr17:43093893

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10598763

rs_1060502340

2 SubmittersRCV000463931 RCV003157516

NM_007294.4(BRCA1):c.1082C>T (p.Ser361Leu)

SNV
Germline

Chr17:43094449

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10599895

rs_397508833

2 SubmittersRCV000459861 RCV003157514

NM_007294.4(BRCA1):c.626C>T (p.Pro209Leu)

SNV
Germline

Chr17:43095890

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
BRCA1-related disorder
BRCA1-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA056615

rs_201596327

7 SubmittersRCV000473299 RCV000563599 RCV000590268 RCV001283910 RCV004554779 RCV004801993

NM_007294.4(BRCA1):c.135-3T>C

SNV
Germline

Chr17:43106536

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA053118

rs_759417413

10 SubmittersRCV000471854 RCV000509758 RCV000989913 RCV001194432 RCV003477972

NM_007194.4(CHEK2):c.427C>T (p.His143Tyr)

SNV
Germline

Chr22:28725260

Conflicting classifications of pathogenicity

Familial cancer of breast
Condition: not provided
Hereditary cancer-predisposing syndrome
not specified
Breast and/or ovarian cancer
Hereditary breast ovarian cancer syndrome
Hereditary nonpolyposis colon cancer
CHEK2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA16616343

rs_1060502688

11 SubmittersRCV000461191 RCV000590326 RCV001022201 RCV002468941 RCV003150220 RCV003483625 RCV005355843 RCV006554534

NM_007194.4(CHEK2):c.1169A>G (p.Tyr390Cys)

SNV
Germline

Chr22:28695800

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Hereditary breast ovarian cancer syndrome
Hereditary nonpolyposis colon cancer

Criteria Provided
Conflicting Classifications

CA16616553

rs_200928781

10 SubmittersRCV000475251 RCV000566309 RCV001528284 RCV003114586 RCV003483626 RCV005355845

NM_000059.4(BRCA2):c.9311A>G (p.Lys3104Arg)

SNV
Germline

Chr13:32394743

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA16616711

rs_956554593

5 SubmittersRCV000461266 RCV000563366 RCV001325149 RCV001584193 RCV002248695

NM_007294.4(BRCA1):c.5309G>T (p.Gly1770Val)

SNV
Germline

Chr17:43051086

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Malignant tumor of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA10590929

rs_863224765

14 SubmittersRCV000477771 RCV000502156 RCV001023895 RCV001572739 RCV001865421

NM_007294.4(BRCA1):c.2185G>T (p.Glu729Ter)

SNV
Germline

Chr17:43093346

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA10597633

rs_876659852

3 SubmittersRCV000477778 RCV000496237

NM_000465.4(BARD1):c.1346A>G (p.Gln449Arg)

SNV
Germline

Chr2:214769281

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA16617441

rs_916069875

5 SubmittersRCV000482558 RCV001010976 RCV001338090 RCV005355966

NM_000251.3(MSH2):c.1315C>G (p.Pro439Ala)

SNV
Germline

Chr2:47445586

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Lynch syndrome 1
Muir-Torré syndrome
Mismatch repair cancer syndrome 2

Criteria Provided
Conflicting Classifications

CA16617576

rs_786203116

7 SubmittersRCV000487340 RCV001010926 RCV001030709 RCV001851231 RCV004003373 RCV005027555

NM_000059.4(BRCA2):c.37G>A (p.Glu13Lys)

SNV
Germline

Chr13:32316497

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA16619632

rs_80358622

6 SubmittersRCV000478846 RCV000543750 RCV001021183 RCV001420826 RCV003463977

NM_000059.4(BRCA2):c.426-20T>G

SNV
Germline

Chr13:32326081

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA16619644

rs_1064795008

4 SubmittersRCV000484138 RCV000775862 RCV001269202 RCV002525865

NM_000059.4(BRCA2):c.631+1G>C

SNV
Germline

Chr13:32326614

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA16619647

rs_81002897

4 SubmittersRCV000485170 RCV003168968 RCV004720260 RCV006463010

NM_000059.4(BRCA2):c.755A>G (p.Asp252Gly)

SNV
Germline

Chr13:32330992

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA16619649

rs_1064793332

3 SubmittersRCV000480840 RCV002525775 RCV005520287

NM_000059.4(BRCA2):c.767C>T (p.Thr256Ile)

SNV
Germline

Chr13:32331004

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Inherited breast cancer and ovarian cancer

Criteria Provided
Conflicting Classifications

CA16619650

rs_1064794265

6 SubmittersRCV000509824 RCV000766910 RCV001231133 RCV004691783

NM_000059.4(BRCA2):c.851G>A (p.Gly284Glu)

SNV
Germline

Chr13:32332329

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA16619651

rs_1064793865

5 SubmittersRCV000759673 RCV001017940 RCV003644988

NM_000059.4(BRCA2):c.1151C>G (p.Ser384Cys)

SNV
Germline

Chr13:32332629

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA16619653

rs_41293475

5 SubmittersRCV000484001 RCV001069889 RCV001788234 RCV003157590

NM_000059.4(BRCA2):c.1322C>T (p.Thr441Ile)

SNV
Germline

Chr13:32332800

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA16619657

rs_1064793062

4 SubmittersRCV000483055 RCV001193992 RCV003157559 RCV002525754

NM_000059.4(BRCA2):c.1490C>T (p.Ser497Leu)

SNV
Germline

Chr13:32332968

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
8 conditions

Criteria Provided
Conflicting Classifications

CA16619659

rs_1064794018

6 SubmittersRCV000486670 RCV000773057 RCV001050810 RCV005010389

NM_000059.4(BRCA2):c.1499G>T (p.Gly500Val)

SNV
Germline

Chr13:32332977

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA16619660

rs_1064795525

4 SubmittersRCV000486849 RCV001800701 RCV003157587 RCV003766701

NM_000059.4(BRCA2):c.1681G>C (p.Gly561Arg)

SNV
Germline

Chr13:32333159

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA16619661

rs_80358455

6 SubmittersRCV000486839 RCV000692840 RCV002402375 RCV003234559

NM_000059.4(BRCA2):c.1822G>A (p.Asp608Asn)

SNV
Germline

Chr13:32333300

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA16619662

rs_1064794170

6 SubmittersRCV000563223 RCV000637768 RCV000758867 RCV004802061

NM_000059.4(BRCA2):c.1860T>G (p.Phe620Leu)

SNV
Germline

Chr13:32333338

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA16619665

rs_1064793402

9 SubmittersRCV000548581 RCV000758868 RCV000775934

NM_000059.4(BRCA2):c.2315C>T (p.Thr772Ile)

SNV
Germline

Chr13:32336670

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA16619669

rs_1064794522

5 SubmittersRCV000479708 RCV000580617 RCV001321251

NM_000059.4(BRCA2):c.2333T>C (p.Val778Ala)

SNV
Germline

Chr13:32336688

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified

Criteria Provided
Conflicting Classifications

CA16619670

rs_1064793704

4 SubmittersRCV000480323 RCV001214583 RCV003157571 RCV003479134

NM_000059.4(BRCA2):c.2383T>G (p.Ser795Ala)

SNV
Germline

Chr13:32336738

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA16619672

rs_878853563

6 SubmittersRCV000481432 RCV000766376 RCV001015353 RCV001347000

NM_000059.4(BRCA2):c.2401A>G (p.Asn801Asp)

SNV
Germline

Chr13:32336756

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA6940604

rs_765279896

6 SubmittersRCV000479358 RCV000580193 RCV000801572 RCV000989011

NM_000059.4(BRCA2):c.2502G>T (p.Leu834Phe)

SNV
Germline

Chr13:32336857

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA16619673

rs_1064794947

3 SubmittersRCV000486108 RCV003157581 RCV003644991

NM_000059.4(BRCA2):c.2665A>G (p.Asn889Asp)

SNV
Germline

Chr13:32337020

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA16619675

rs_1020818778

4 SubmittersRCV000478657 RCV001856827 RCV003157568

NM_000059.4(BRCA2):c.2915A>G (p.Lys972Arg)

SNV
Germline

Chr13:32337270

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA16619678

rs_1064794885

5 SubmittersRCV000483494 RCV000528453 RCV000564626

NM_000059.4(BRCA2):c.2963A>G (p.Asp988Gly)

SNV
Germline

Chr13:32337318

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA16619679

rs_876659509

4 SubmittersRCV000487113 RCV001017688 RCV001340301

NM_000059.4(BRCA2):c.3071T>A (p.Ile1024Asn)

SNV
Germline

Chr13:32337426

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA6940661

rs_764921920

6 SubmittersRCV000481872 RCV000545081 RCV002319505 RCV003483635

NM_000059.4(BRCA2):c.3085A>C (p.Met1029Leu)

SNV
Germline

Chr13:32337440

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA16619683

rs_80358553

4 SubmittersRCV000485239 RCV001210580 RCV002323820

NM_000059.4(BRCA2):c.3109C>A (p.Gln1037Lys)

SNV
Germline

Chr13:32337464

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA16619684

rs_80358557

4 SubmittersRCV000480866 RCV003157576 RCV003644990

NM_000059.4(BRCA2):c.3154G>C (p.Ala1052Pro)

SNV
Germline

Chr13:32337509

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA16619686

rs_730881520

4 SubmittersRCV000478435 RCV001824801 RCV003157585 RCV003530051

NM_000059.4(BRCA2):c.3161A>G (p.Asp1054Gly)

SNV
Germline

Chr13:32337516

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA16619687

rs_1064793624

4 SubmittersRCV000483194 RCV001865436 RCV002323818

NM_000059.4(BRCA2):c.3176T>G (p.Leu1059Arg)

SNV
Germline

Chr13:32337531

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified

Criteria Provided
Conflicting Classifications

CA16619689

rs_1064793927

7 SubmittersRCV000486653 RCV000576066 RCV000691591 RCV002469170

NM_000059.4(BRCA2):c.3188A>C (p.Gln1063Pro)

SNV
Germline

Chr13:32337543

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA16619690

rs_775030825

6 SubmittersRCV000637621 RCV000775945 RCV003221425 RCV004002301

NM_000059.4(BRCA2):c.3238G>C (p.Asp1080His)

SNV
Germline

Chr13:32337593

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified

Criteria Provided
Conflicting Classifications

CA16619693

rs_1064794159

6 SubmittersRCV000481777 RCV001019352 RCV001225596 RCV003155203

NM_000059.4(BRCA2):c.3242G>A (p.Cys1081Tyr)

SNV
Germline

Chr13:32337597

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified

Criteria Provided
Conflicting Classifications

CA16619694

rs_752871893

7 SubmittersRCV000482401 RCV000579848 RCV000812619 RCV002265776

NM_000059.4(BRCA2):c.3852T>G (p.Ser1284Arg)

SNV
Germline

Chr13:32338207

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA6940729

rs_777895333

6 SubmittersRCV000479311 RCV000570596 RCV001217942

NM_000059.4(BRCA2):c.3994C>G (p.His1332Asp)

SNV
Germline

Chr13:32338349

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Malignant tumor of breast
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA16619701

rs_863224588

7 SubmittersRCV000588273 RCV000775953 RCV001357145 RCV001244602

NM_000059.4(BRCA2):c.4105T>C (p.Ser1369Pro)

SNV
Germline

Chr13:32338460

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA6940747

rs_138567364

8 SubmittersRCV000483881 RCV000565773 RCV001043410 RCV001731708 RCV004002314

NM_000059.4(BRCA2):c.4254A>G (p.Ile1418Met)

SNV
Germline

Chr13:32338609

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary breast ovarian cancer syndrome
not specified
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA16619702

rs_1064793378

4 SubmittersRCV000485031 RCV000804771 RCV001526926 RCV003157564

NM_000059.4(BRCA2):c.4296T>G (p.Ser1432Arg)

SNV
Germline

Chr13:32338651

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA16619704

rs_1064793065

4 SubmittersRCV000478821 RCV001215412 RCV002329138

NM_000059.4(BRCA2):c.4320A>C (p.Lys1440Asn)

SNV
Germline

Chr13:32338675

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA6940771

rs_769535925

8 SubmittersRCV000478901 RCV000529148 RCV001022289 RCV001194413 RCV004002281

NM_000059.4(BRCA2):c.4339G>A (p.Val1447Ile)

SNV
Germline

Chr13:32338694

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA16619706

rs_1064795076

4 SubmittersRCV000482796 RCV003157584 RCV003644992

NM_000059.4(BRCA2):c.4343A>T (p.Asn1448Ile)

SNV
Germline

Chr13:32338698

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA6940772

rs_762841458

5 SubmittersRCV000482410 RCV001064567 RCV003157560

NM_000059.4(BRCA2):c.4344T>G (p.Asn1448Lys)

SNV
Germline

Chr13:32338699

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary breast ovarian cancer syndrome
not specified
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA16619707

rs_1064793724

7 SubmittersRCV000481338 RCV000539583 RCV001192534 RCV002329146 RCV004002291

NM_000059.4(BRCA2):c.4399C>T (p.His1467Tyr)

SNV
Germline

Chr13:32338754

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA16619708

rs_1064793495

5 SubmittersRCV000484223 RCV001022418 RCV001050664

NM_000059.4(BRCA2):c.5084A>T (p.Glu1695Val)

SNV
Germline

Chr13:32339439

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA16619717

rs_397507347

5 SubmittersRCV000480557 RCV000569626 RCV002525787

NM_000059.4(BRCA2):c.5110A>T (p.Arg1704Ter)

SNV
Germline

Chr13:32339465

Pathogenic

Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA16619718

rs_1064795652

5 SubmittersRCV000487145 RCV000661851 RCV001382436 RCV002350070

NM_000059.4(BRCA2):c.5144T>C (p.Leu1715Ser)

SNV
Germline

Chr13:32339499

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
not specified
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA16619719

rs_1064793634

9 SubmittersRCV000570188 RCV000587158 RCV000637698 RCV000855638 RCV004002298

NM_000059.4(BRCA2):c.5144T>G (p.Leu1715Trp)

SNV
Germline

Chr13:32339499

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA16619720

rs_1064793634

3 SubmittersRCV000486142 RCV002526537 RCV003157570

NM_000059.4(BRCA2):c.5386G>T (p.Asp1796Tyr)

SNV
Germline

Chr13:32339741

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Familial cancer of breast
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA16619723

rs_1064793715

8 SubmittersRCV000484942 RCV000555277 RCV002350057 RCV003483634 RCV003607291 RCV004802053

NM_000059.4(BRCA2):c.5632A>G (p.Asn1878Asp)

SNV
Germline

Chr13:32339987

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified

Criteria Provided
Conflicting Classifications

CA16619729

rs_397507358

6 SubmittersRCV000480280 RCV000581757 RCV000817294 RCV003987559

NM_000059.4(BRCA2):c.5900A>G (p.Lys1967Arg)

SNV
Germline

Chr13:32340255

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA16619732

rs_959089047

9 SubmittersRCV000487031 RCV000563594 RCV000553708 RCV003493591

NM_000059.4(BRCA2):c.5970T>G (p.Asp1990Glu)

SNV
Germline

Chr13:32340325

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Ovarian cancer
BRCA2-related cancer predisposition
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA16619734

rs_1064794160

8 SubmittersRCV000485637 RCV000776240 RCV001364757 RCV003153661 RCV004802060 RCV005365350

NM_000059.4(BRCA2):c.5990G>A (p.Arg1997Lys)

SNV
Germline

Chr13:32340345

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA16619735

rs_1064793478

7 SubmittersRCV000586598 RCV001302502 RCV002356768

NM_000059.4(BRCA2):c.6109G>A (p.Glu2037Lys)

SNV
Germline

Chr13:32340464

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA16619736

rs_1064795651

4 SubmittersRCV000483807 RCV000811660 RCV003157589

NM_000059.4(BRCA2):c.6209A>G (p.Glu2070Gly)

SNV
Germline

Chr13:32340564

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
not specified

Criteria Provided
Conflicting Classifications

CA16619737

rs_1064793809

7 SubmittersRCV000509660 RCV000766430 RCV001061542 RCV004525943

NM_000059.4(BRCA2):c.6233G>T (p.Gly2078Val)

SNV
Germline

Chr13:32340588

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA6940938

rs_769883812

6 SubmittersRCV000484329 RCV000821918 RCV001184327 RCV004802068

NM_000059.4(BRCA2):c.6273T>A (p.Ser2091Arg)

SNV
Germline

Chr13:32340628

Conflicting classifications of pathogenicity

not specified
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA16619739

rs_966360777

6 SubmittersRCV000480122 RCV001047459 RCV002356763 RCV003221424 RCV004002239

NM_000059.4(BRCA2):c.6357C>G (p.Asn2119Lys)

SNV
Germline

Chr13:32340712

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA16619741

rs_1064794110

5 SubmittersRCV000481129 RCV000697738 RCV001025168 RCV004002317

NM_000059.4(BRCA2):c.6369A>C (p.Glu2123Asp)

SNV
Germline

Chr13:32340724

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA16619742

rs_1064793571

10 SubmittersRCV000478478 RCV000509671 RCV000624984 RCV001207453 RCV004802051

NM_000059.4(BRCA2):c.6430G>A (p.Glu2144Lys)

SNV
Germline

Chr13:32340785

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA6940953

rs_755967190

4 SubmittersRCV000484424 RCV001057887 RCV003157588

NM_000059.4(BRCA2):c.6452T>G (p.Val2151Gly)

SNV
Germline

Chr13:32340807

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA16619746

rs_1064793743

7 SubmittersRCV000484418 RCV000766361 RCV000775947 RCV004002295 RCV003766668

NM_000059.4(BRCA2):c.6455C>T (p.Ser2152Phe)

SNV
Germline

Chr13:32340810

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA16619747

rs_80358881

6 SubmittersRCV000480266 RCV000510135 RCV001851176 RCV004003311

NM_000059.4(BRCA2):c.6485A>G (p.Lys2162Arg)

SNV
Germline

Chr13:32340840

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
not specified

Criteria Provided
Conflicting Classifications

CA6940960

rs_11571660

9 SubmittersRCV000478743 RCV000772763 RCV001203351 RCV001770369 RCV003321631

NM_000059.4(BRCA2):c.6743A>G (p.His2248Arg)

SNV
Germline

Chr13:32341098

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA16619752

rs_1064793995

4 SubmittersRCV000481203 RCV000637686 RCV001025604

NM_000059.4(BRCA2):c.7351G>A (p.Asp2451Asn)

SNV
Germline

Chr13:32355204

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA16619761

rs_1064794968

4 SubmittersRCV000478658 RCV002525861 RCV004948361

NM_000059.4(BRCA2):c.7723A>G (p.Thr2575Ala)

SNV
Germline

Chr13:32357847

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA16619767

rs_1064793308

4 SubmittersRCV000482917 RCV001255592 RCV002402380 RCV002526519

NM_000059.4(BRCA2):c.7739A>G (p.Gln2580Arg)

SNV
Germline

Chr13:32357863

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
BRCA2-related disorder
not specified
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA16619768

rs_1064795508

7 SubmittersRCV000480812 RCV000573542 RCV000637758 RCV001535437 RCV003230517 RCV004003368

NM_000059.4(BRCA2):c.7771A>G (p.Asn2591Asp)

SNV
Germline

Chr13:32357895

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA16619770

rs_778060629

4 SubmittersRCV000486358 RCV000562419 RCV002526542 RCV003463994

NM_000059.4(BRCA2):c.7787G>A (p.Gly2596Glu)

SNV
Germline

Chr13:32357911

Likely pathogenic

Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
BRCA2-related cancer predisposition

Reviewed By Expert Panel

CA16619771

rs_1064795140

5 SubmittersRCV000485136 RCV001045321 RCV004023150 RCV005628818

NM_000059.4(BRCA2):c.7874G>T (p.Arg2625Ile)

SNV
Germline

Chr13:32362591

Likely pathogenic

Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
BRCA2-related cancer predisposition

Reviewed By Expert Panel

CA16619772

rs_864622552

7 SubmittersRCV000487418 RCV000802875 RCV002413321 RCV004002293 RCV006260059

NM_000059.4(BRCA2):c.7938C>G (p.Cys2646Trp)

SNV
Germline

Chr13:32362655

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA16619773

rs_1064794927

5 SubmittersRCV001234204 RCV000485719 RCV001026975 RCV004802069

NM_000059.4(BRCA2):c.7976+2C>G

SNV
Germline

Chr13:32362695

Pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Multiple Submitters
No Conflicts

CA16619774

rs_886040943

8 SubmittersRCV000478296 RCV000580796 RCV001171448 RCV001805095 RCV006554541

NM_000059.4(BRCA2):c.8305G>C (p.Glu2769Gln)

SNV
Germline

Chr13:32363507

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA16619778

rs_1064794185

4 SubmittersRCV000484683 RCV000563964 RCV001068956 RCV004003313

NM_000059.4(BRCA2):c.8630A>G (p.Glu2877Gly)

SNV
Germline

Chr13:32371098

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA16619780

rs_1064794960

6 SubmittersRCV000486194 RCV001193173 RCV002376878 RCV002525860 RCV005600945

NM_000059.4(BRCA2):c.8708A>G (p.Glu2903Gly)

SNV
Germline

Chr13:32376745

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified
BRCA2-related cancer predisposition
Breast-ovarian cancer, familial, susceptibility to, 2
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA16619782

rs_730881566

10 SubmittersRCV000479107 RCV000698367 RCV001177308 RCV002509401 RCV004802054 RCV005248056 RCV004568161

NM_000059.4(BRCA2):c.8755-1G>C

SNV
Germline

Chr13:32379316

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
8 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA16619783

rs_81002812

6 SubmittersRCV000485251 RCV000510081 RCV000576379 RCV001865423 RCV005010383

NM_000059.4(BRCA2):c.8844T>G (p.Ile2948Met)

SNV
Germline

Chr13:32379406

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Familial cancer of breast
8 conditions

Criteria Provided
Conflicting Classifications

CA16619784

rs_1064793691

9 SubmittersRCV000580144 RCV000485068 RCV000801790 RCV003234776 RCV003607290 RCV005010386

NM_000059.4(BRCA2):c.8954-13T>C

SNV
Germline

Chr13:32379737

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA16619786

rs_398122717

4 SubmittersRCV000480332 RCV000775938 RCV001584197 RCV002056788

NM_000059.4(BRCA2):c.8963G>A (p.Ser2988Asn)

SNV
Germline

Chr13:32379759

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA6941324

rs_778052683

5 SubmittersRCV000478758 RCV000773156 RCV001085361

NM_000059.4(BRCA2):c.9216G>A (p.Val3072=)

SNV
Germline

Chr13:32380105

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA6941356

rs_773533016

3 SubmittersRCV000481965 RCV000691331 RCV001019009

NM_000059.4(BRCA2):c.9494C>G (p.Thr3165Ser)

SNV
Germline

Chr13:32394926

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA16619791

rs_1064796569

3 SubmittersRCV000486040 RCV000575840 RCV002525942

NM_000059.4(BRCA2):c.10082A>C (p.Gln3361Pro)

SNV
Germline

Chr13:32398595

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Malignant tumor of breast
not specified
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA6941471

rs_751250810

10 SubmittersRCV000536779 RCV000570247 RCV001357415 RCV001797731 RCV001712440 RCV003338602

NM_000059.4(BRCA2):c.10131A>C (p.Glu3377Asp)

SNV
Germline

Chr13:32398644

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Malignant tumor of pancreas
Hereditary breast ovarian cancer syndrome
not specified
Breast-ovarian cancer, familial, susceptibility to, 2
Malignant tumor of breast

Criteria Provided
Conflicting Classifications

CA16619803

rs_1064793835

10 SubmittersRCV000482184 RCV000509753 RCV000677841 RCV000698028 RCV000781053 RCV000989095 RCV001355076

NM_002878.4(RAD51D):c.2T>G (p.Met1Arg)

SNV
Germline

Chr17:35119612

Conflicting classifications of pathogenicity

Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 4
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA16620396

rs_1064794619

4 SubmittersRCV000481968 RCV001865452 RCV002436538 RCV003482146

NM_007294.4(BRCA1):c.5531T>C (p.Leu1844Pro)

SNV
Germline

Chr17:43045739

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
BRCA1-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA055255

rs_80357323

7 SubmittersRCV000484935 RCV001024239 RCV001063794 RCV001077564 RCV004802057

NM_007294.4(BRCA1):c.5511G>C (p.Trp1837Cys)

SNV
Germline

Chr17:43045759

Pathogenic/Likely pathogenic

Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 1
Fanconi anemia, complementation group S

Criteria Provided
Multiple Submitters
No Conflicts

CA10590294

rs_80356914

8 SubmittersRCV000483084 RCV001078019 RCV001184314 RCV001254336 RCV005355950

NM_007294.4(BRCA1):c.5285G>A (p.Arg1762Lys)

SNV
Germline

Chr17:43051110

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10590975

rs_398122694

4 SubmittersRCV000480460 RCV001023863 RCV001076753 RCV005090962

NM_007294.4(BRCA1):c.5175A>C (p.Glu1725Asp)

SNV
Germline

Chr17:43063351

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
not specified

Criteria Provided
Conflicting Classifications

CA10591194

rs_191373374

4 SubmittersRCV000479108 RCV000705711 RCV001077742 RCV002509403

NM_007294.4(BRCA1):c.5137G>A (p.Val1713Ile)

SNV
Germline

Chr17:43063889

Conflicting classifications of pathogenicity

Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Ovarian cancer

Criteria Provided
Conflicting Classifications

CA10591268

rs_1064793309

9 SubmittersRCV000484213 RCV001077648 RCV001228454 RCV002350051 RCV003153657

NM_007294.4(BRCA1):c.5028A>T (p.Leu1676Phe)

SNV
Germline

Chr17:43067654

Conflicting classifications of pathogenicity

Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10591460

rs_1064793596

4 SubmittersRCV000486902 RCV001077460 RCV001314318 RCV005781969

NM_007294.4(BRCA1):c.5018A>G (p.His1673Arg)

SNV
Germline

Chr17:43067664

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10591480

rs_1064793913

7 SubmittersRCV000481622 RCV001023427 RCV001072978 RCV001851165

NM_007294.4(BRCA1):c.4910C>A (p.Pro1637Gln)

SNV
Germline

Chr17:43071004

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10591703

rs_80357048

4 SubmittersRCV000478837 RCV001039099 RCV001073141 RCV002350073

NM_007294.4(BRCA1):c.4787C>A (p.Ser1596Ter)

SNV
Germline

Chr17:43071127

Pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA10591942

rs_80357429

4 SubmittersRCV000486809 RCV000509938 RCV000661272 RCV001045842

NM_007294.4(BRCA1):c.4726G>C (p.Glu1576Gln)

SNV
Germline

Chr17:43071188

Conflicting classifications of pathogenicity

not specified
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10592055

rs_1060502355

2 SubmittersRCV000487131 RCV001851131

NM_007294.4(BRCA1):c.4683C>G (p.Thr1561=)

SNV
Germline

Chr17:43071231

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA16620422

rs_878853265

3 SubmittersRCV000482214 RCV000559495 RCV002329148

NM_007294.4(BRCA1):c.4610A>G (p.Gln1537Arg)

SNV
Germline

Chr17:43074396

Conflicting classifications of pathogenicity

not specified
Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10592292

rs_70953659

5 SubmittersRCV000484247 RCV000637536 RCV000766451 RCV000773185

NM_007294.4(BRCA1):c.3974G>A (p.Arg1325Lys)

SNV
Germline

Chr17:43091557

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified

Criteria Provided
Conflicting Classifications

CA10594020

rs_921253348

7 SubmittersRCV000484697 RCV000509912 RCV000808684 RCV003321630

NM_007294.4(BRCA1):c.3835G>T (p.Ala1279Ser)

SNV
Germline

Chr17:43091696

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10594295

rs_80357036

4 SubmittersRCV000479770 RCV000509704 RCV005090948

NM_007294.4(BRCA1):c.3466G>A (p.Asp1156Asn)

SNV
Germline

Chr17:43092065

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary breast ovarian cancer syndrome
BRCA1-related cancer predisposition
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10595051

rs_1064793302

6 SubmittersRCV000483179 RCV000706950 RCV004802047 RCV003157563

NM_007294.4(BRCA1):c.3308G>A (p.Cys1103Tyr)

SNV
Germline

Chr17:43092223

Conflicting classifications of pathogenicity

Condition: not provided
Breast and/or ovarian cancer
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA057973

rs_80357135

7 SubmittersRCV000758809 RCV001170596 RCV001297544 RCV002323819 RCV004002287

NM_007294.4(BRCA1):c.3172A>G (p.Ile1058Val)

SNV
Germline

Chr17:43092359

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA10595644

rs_1064795478

6 SubmittersRCV000479949 RCV000571167 RCV001212358 RCV001770373

NM_007294.4(BRCA1):c.3120C>T (p.Ser1040=)

SNV
Germline

Chr17:43092411

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA16620430

rs_1064794877

4 SubmittersRCV000484877 RCV002056791 RCV002323829 RCV004003342

NM_007294.4(BRCA1):c.2964A>G (p.Ser988=)

SNV
Germline

Chr17:43092567

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Breast-ovarian cancer, familial, susceptibility to, 1
Fanconi anemia, complementation group S
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA16620432

rs_1064796061

7 SubmittersRCV000478297 RCV001017690 RCV001174661 RCV002063812 RCV004003390 RCV005355964

NM_007294.4(BRCA1):c.2929C>T (p.Pro977Ser)

SNV
Germline

Chr17:43092602

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10596134

rs_1064794043

4 SubmittersRCV000486609 RCV001300935 RCV002436534

NM_007294.4(BRCA1):c.2830T>A (p.Cys944Ser)

SNV
Germline

Chr17:43092701

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10596330

rs_1064795603

5 SubmittersRCV000484974 RCV000525415 RCV000775950

NM_007294.4(BRCA1):c.2813C>T (p.Pro938Leu)

SNV
Germline

Chr17:43092718

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10596364

rs_1064793999

4 SubmittersRCV000482849 RCV000541701 RCV001016662

NM_007294.4(BRCA1):c.2723A>G (p.Glu908Gly)

SNV
Germline

Chr17:43092808

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10596547

rs_1064794969

3 SubmittersRCV000486026 RCV001066861 RCV003157582

NM_007294.4(BRCA1):c.2696T>G (p.Val899Gly)

SNV
Germline

Chr17:43092835

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10596605

rs_1064794483

3 SubmittersRCV000481820 RCV001851188 RCV003157577

NM_007294.4(BRCA1):c.2689C>T (p.Pro897Ser)

SNV
Germline

Chr17:43092842

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10596620

rs_770583134

4 SubmittersRCV000478436 RCV002526556 RCV003157574

NM_007294.4(BRCA1):c.2666C>A (p.Ser889Tyr)

SNV
Germline

Chr17:43092865

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10596663

rs_769712441

5 SubmittersRCV000482278 RCV001856845 RCV003157578

NM_007294.4(BRCA1):c.2620A>C (p.Asn874His)

SNV
Germline

Chr17:43092911

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA10596757

rs_1064795862

9 SubmittersRCV000479303 RCV000545763 RCV000570820 RCV003401547 RCV004003380

NM_007294.4(BRCA1):c.2401T>C (p.Cys801Arg)

SNV
Germline

Chr17:43093130

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10597206

rs_1064793591

4 SubmittersRCV000479023 RCV000794192 RCV001015420

NM_007294.4(BRCA1):c.2266A>G (p.Arg756Gly)

SNV
Germline

Chr17:43093265

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10597467

rs_1064795091

5 SubmittersRCV000479150 RCV000775002 RCV001045834

NM_007294.4(BRCA1):c.1829G>C (p.Arg610Thr)

SNV
Germline

Chr17:43093702

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10598358

rs_876660322

3 SubmittersRCV000483187 RCV003157566 RCV006612343

NM_007294.4(BRCA1):c.1771A>G (p.Ile591Val)

SNV
Germline

Chr17:43093760

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Malignant tumor of breast
BRCA1-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA10598482

rs_1064795358

9 SubmittersRCV000482260 RCV000766775 RCV001013057 RCV000821605 RCV001353541 RCV004802071

NM_007294.4(BRCA1):c.1757C>G (p.Pro586Arg)

SNV
Germline

Chr17:43093774

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10598514

rs_1064795270

5 SubmittersRCV000481843 RCV000561830 RCV003644993

NM_007294.4(BRCA1):c.1649A>G (p.Asn550Ser)

SNV
Germline

Chr17:43093882

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA10598737

rs_1064795217

6 SubmittersRCV000484359 RCV000637764 RCV001012565 RCV004003357

NM_007294.4(BRCA1):c.1580A>G (p.Lys527Arg)

SNV
Germline

Chr17:43093951

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
BRCA1-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA057390

rs_774959350

5 SubmittersRCV000486910 RCV000695544 RCV002402379 RCV004802048

NM_007294.4(BRCA1):c.1554C>A (p.Ile518=)

SNV
Germline

Chr17:43093977

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
BRCA1-related cancer predisposition
not specified

Criteria Provided
Conflicting Classifications

CA16620440

rs_1064794487

5 SubmittersRCV000483775 RCV002395157 RCV002525839 RCV004802064 RCV005239067

NM_007294.4(BRCA1):c.1501A>G (p.Lys501Glu)

SNV
Germline

Chr17:43094030

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10599044

rs_1064793883

3 SubmittersRCV000481108 RCV001295053 RCV003157573

NM_007294.4(BRCA1):c.1435G>A (p.Glu479Lys)

SNV
Germline

Chr17:43094096

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10599175

rs_1064794100

4 SubmittersRCV000480844 RCV001011564 RCV002525813

NM_007294.4(BRCA1):c.1423A>T (p.Ser475Cys)

SNV
Germline

Chr17:43094108

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified

Criteria Provided
Conflicting Classifications

CA10599200

rs_1064794047

5 SubmittersRCV000485151 RCV000566059 RCV000637344 RCV004782395

NM_007294.4(BRCA1):c.1357G>C (p.Glu453Gln)

SNV
Germline

Chr17:43094174

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA057176

rs_768054411

6 SubmittersRCV000637435 RCV000573359 RCV000586479

NM_007294.4(BRCA1):c.1315G>T (p.Ala439Ser)

SNV
Germline

Chr17:43094216

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10599420

rs_1064794098

4 SubmittersRCV000481813 RCV000690913 RCV002383919

NM_007294.4(BRCA1):c.1270G>C (p.Gly424Arg)

SNV
Germline

Chr17:43094261

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA10599516

rs_763051683

7 SubmittersRCV000482955 RCV000561054 RCV000690584 RCV004023116

NM_007294.4(BRCA1):c.1244T>C (p.Val415Ala)

SNV
Germline

Chr17:43094287

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10599563

rs_1064796031

4 SubmittersRCV000480438 RCV001318285 RCV002395173

NM_007294.4(BRCA1):c.922A>G (p.Ser308Gly)

SNV
Germline

Chr17:43094609

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Pancreatic cancer, susceptibility to, 4
Fanconi anemia, complementation group S
Breast-ovarian cancer, familial, susceptibility to, 1
Familial cancer of breast
BRCA1-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA10600223

rs_55767801

8 SubmittersRCV000481247 RCV000580929 RCV000637630 RCV000766450 RCV002481506 RCV004802055

NM_007294.4(BRCA1):c.861C>G (p.Asn287Lys)

SNV
Germline

Chr17:43094670

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10600357

rs_1064794692

4 SubmittersRCV000487264 RCV001340141 RCV002376875

NM_007294.4(BRCA1):c.672T>G (p.Ala224=)

SNV
Germline

Chr17:43094859

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA16620444

rs_1064794486

4 SubmittersRCV000479791 RCV000540457 RCV001025590

NM_007294.4(BRCA1):c.486G>A (p.Val162=)

SNV
Germline

Chr17:43099836

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA056188

rs_769213707

4 SubmittersRCV000480995 RCV001023176 RCV001496772

NM_007294.4(BRCA1):c.419G>A (p.Ser140Asn)

SNV
Germline

Chr17:43104144

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
BRCA1-related cancer predisposition
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA10601309

rs_1064793055

5 SubmittersRCV000479511 RCV001851130 RCV002329137 RCV004802046 RCV005620949

NM_007294.4(BRCA1):c.124A>C (p.Ile42Leu)

SNV
Germline

Chr17:43115736

Conflicting classifications of pathogenicity

Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
BRCA1-related cancer predisposition
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10601911

rs_80357163

8 SubmittersRCV000482375 RCV001072500 RCV002402411 RCV004802072 RCV005056055

NM_007294.4(BRCA1):c.100C>T (p.Pro34Ser)

SNV
Germline

Chr17:43115760

Likely pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
BRCA1-related cancer predisposition

Reviewed By Expert Panel

CA10601951

rs_1064793357

5 SubmittersRCV000478465 RCV000561610 RCV001072472 RCV003644987 RCV006260058

NM_007294.4(BRCA1):c.80G>C (p.Cys27Ser)

SNV
Germline

Chr17:43124017

Conflicting classifications of pathogenicity

Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10601997

rs_1064793052

3 SubmittersRCV000480934 RCV001077722 RCV001222249

NM_000546.6(TP53):c.861G>C (p.Glu287Asp)

SNV
Germline/somatic

Chr17:7673759

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1
Neoplasm
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA001463

rs_748891343

9 SubmittersRCV000481706 RCV000568299 RCV001214612 RCV002289642 RCV004668997 RCV004760528

NM_000455.5(STK11):c.317G>A (p.Arg106Gln)

SNV
Germline

Chr19:1218443

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Peutz-Jeghers syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA047077

rs_375622587

7 SubmittersRCV000479549 RCV000573267 RCV000796866 RCV005625626

NM_007194.4(CHEK2):c.1461+5G>T

SNV
Germline

Chr22:28694027

Conflicting classifications of pathogenicity

Condition: not provided
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA16621045

rs_769841229

5 SubmittersRCV000482348 RCV000802634 RCV002395146 RCV004802050

NM_000059.4(BRCA2):c.2157T>A (p.Asn719Lys)

SNV
Germline

Chr13:32336512

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA16621907

rs_1064797382

3 SubmittersRCV000487726 RCV001851296 RCV003157592

NM_007294.4(BRCA1):c.376C>T (p.Gln126Ter)

SNV
Germline

Chr17:43104187

Pathogenic

Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA10601391

rs_1085307902

6 SubmittersRCV000489726 RCV000661001 RCV000775957 RCV001203814

NM_000059.4(BRCA2):c.7876T>C (p.Trp2626Arg)

SNV
Germline

Chr13:32362593

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA387747100

rs_1060502459

3 SubmittersRCV000493105 RCV000704789 RCV001026898

NM_032043.3(BRIP1):c.2244C>G (p.Tyr748Ter)

SNV
Germline

Chr17:61744445

Pathogenic/Likely pathogenic

Breast neoplasm
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Fanconi anemia complementation group J
Breast carcinoma
Familial cancer of breast
Breast and/or ovarian cancer
Hereditary breast ovarian cancer syndrome
Inherited ovarian cancer (without breast cancer)

Criteria Provided
Multiple Submitters
No Conflicts

CA400482848

rs_1257401983

13 SubmittersRCV000504601 RCV000576013 RCV000657691 RCV000694900 RCV001554339 RCV003335408 RCV003492076 RCV004586741 RCV006436792

NM_000059.4(BRCA2):c.857C>G (p.Ser286Ter)

SNV
Germline

Chr13:32332335

Pathogenic

Breast neoplasm
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Reviewed By Expert Panel

CA387760554

rs_1131692035

6 SubmittersRCV000494717 RCV000661899 RCV001382893 RCV002446965 RCV003464065

NM_007294.4(BRCA1):c.541G>T (p.Glu181Ter)

SNV
Germline

Chr17:43099781

Pathogenic

Hereditary breast ovarian cancer syndrome
Breast neoplasm

Criteria Provided
Multiple Submitters
No Conflicts

CA10601058

rs_1131692162

2 SubmittersRCV001856986 RCV000494736

NM_032043.3(BRIP1):c.886G>T (p.Glu296Ter)

SNV
Unknown

Chr17:61808499

Pathogenic

Hereditary breast ovarian cancer syndrome

No Assertion Criteria Provided

CA400484703

rs_876660125

1 SubmittersRCV000494920

NM_000059.4(BRCA2):c.1736T>G (p.Leu579Ter)

SNV
Germline

Chr13:32333214

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Pancreatic cancer, susceptibility to, 2

Criteria Provided
Multiple Submitters
No Conflicts

CA16021323

rs_1131692274

7 SubmittersRCV000496052 RCV000581310 RCV000637369 RCV004719836 RCV005355999

NM_000059.4(BRCA2):c.4574A>C (p.His1525Pro)

SNV
Germline

Chr13:32338929

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Malignant tumor of breast
Condition: not provided
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA6940795

rs_397507336

10 SubmittersRCV000496676 RCV000571305 RCV001357073 RCV001800713 RCV002250642 RCV004003493

NM_000059.4(BRCA2):c.6562A>G (p.Lys2188Glu)

SNV
Germline

Chr13:32340917

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
not specified
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA387789838

rs_1135401833

7 SubmittersRCV000496859 RCV003155216 RCV003157595 RCV003483641

NM_007294.4(BRCA1):c.954T>A (p.His318Gln)

SNV
Germline

Chr17:43094577

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast and/or ovarian cancer
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10600158

rs_1135401826

6 SubmittersRCV000496635 RCV000770748 RCV002258933

NM_007294.4(BRCA1):c.886A>G (p.Arg296Gly)

SNV
Germline

Chr17:43094645

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA056869

rs_748675395

7 SubmittersRCV000496938 RCV000574826 RCV000821194 RCV001552518

NM_000059.4(BRCA2):c.2T>A (p.Met1Lys)

SNV
Germline

Chr13:32316462

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary breast ovarian cancer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA387752876

rs_80358547

3 SubmittersRCV001268575 RCV000496424

NM_000059.4(BRCA2):c.67+2T>G

SNV
Germline

Chr13:32316529

Pathogenic/Likely pathogenic

Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA387753128

rs_81002885

4 SubmittersRCV000496567 RCV001591133 RCV002367672

NM_000059.4(BRCA2):c.1658T>G (p.Leu553Ter)

SNV
Germline

Chr13:32333136

Pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA387765024

rs_876659627

5 SubmittersRCV001548117 RCV001012587 RCV000507637 RCV000496621

NM_000059.4(BRCA2):c.4022C>A (p.Ser1341Ter)

SNV
Germline

Chr13:32338377

Pathogenic

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Reviewed By Expert Panel

CA387779046

rs_1135401901

3 SubmittersRCV000496483 RCV000661610

NM_000059.4(BRCA2):c.5087G>T (p.Gly1696Val)

SNV
Germline

Chr13:32339442

Pathogenic

Hereditary breast ovarian cancer syndrome

No Assertion Criteria Provided

CA387784094

rs_1135401904

1 SubmittersRCV000496779

NM_000059.4(BRCA2):c.5609T>A (p.Phe1870Tyr)

SNV
Germline

Chr13:32339964

Conflicting classifications of pathogenicity

not specified
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387786082

rs_1135401908

5 SubmittersRCV000496547 RCV001856991 RCV002350105

NM_000059.4(BRCA2):c.7792G>T (p.Glu2598Ter)

SNV
Germline

Chr13:32357916

Pathogenic

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Familial cancer of breast

Reviewed By Expert Panel

CA387746039

rs_1135401919

7 SubmittersRCV000496865 RCV000573230 RCV000661829 RCV000657715 RCV003476192

NM_000059.4(BRCA2):c.7980T>A (p.Tyr2660Ter)

SNV
Germline

Chr13:32363182

Pathogenic

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Reviewed By Expert Panel

CA387748495

rs_397507949

3 SubmittersRCV000496310 RCV000661558

NM_000059.4(BRCA2):c.8245C>T (p.Gln2749Ter)

SNV
Germline

Chr13:32363447

Pathogenic

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA387749914

rs_1135401925

4 SubmittersRCV000496216 RCV000661758 RCV004023322

NM_000059.4(BRCA2):c.8954-2A>C

SNV
Germline

Chr13:32379748

Likely pathogenic

Hereditary breast ovarian cancer syndrome
Malignant tumor of breast

Criteria Provided
Single Submitter

CA387757351

rs_1135401928

3 SubmittersRCV000496263 RCV001353886

NM_007294.4(BRCA1):c.3998T>C (p.Val1333Ala)

SNV
Germline

Chr17:43091533

Conflicting classifications of pathogenicity

not specified
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA10593965

rs_1135401872

6 SubmittersRCV000496832 RCV000530741 RCV000583038 RCV003493604

NM_007294.4(BRCA1):c.3647T>A (p.Leu1216Ter)

SNV
Germline

Chr17:43091884

Pathogenic

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
BRCA1-related disorder

Reviewed By Expert Panel

CA10594675

rs_397509091

6 SubmittersRCV000496320 RCV000509775 RCV000661180 RCV004554791

NM_007294.4(BRCA1):c.3637G>T (p.Glu1213Ter)

SNV
Germline

Chr17:43091894

Pathogenic

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1

Reviewed By Expert Panel

CA10594694

rs_1135401864

2 SubmittersRCV000496497 RCV000661019

NM_007294.4(BRCA1):c.2934T>A (p.Tyr978Ter)

SNV
Germline

Chr17:43092597

Pathogenic

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1

Reviewed By Expert Panel

CA10596127

rs_80357115

3 SubmittersRCV000496665 RCV000661056

NM_007294.4(BRCA1):c.2911C>G (p.His971Asp)

SNV
Germline

Chr17:43092620

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA10596171

rs_80357478

5 SubmittersRCV000566526 RCV000496848 RCV000700278 RCV003316645

NM_007294.4(BRCA1):c.2255T>A (p.Leu752Ter)

SNV
Germline

Chr17:43093276

Pathogenic

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1

Reviewed By Expert Panel

CA10597490

rs_1135401852

2 SubmittersRCV000496870 RCV000661115

NM_007294.4(BRCA1):c.2038A>T (p.Lys680Ter)

SNV
Germline

Chr17:43093493

Pathogenic

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1

Reviewed By Expert Panel

CA10597932

rs_1135401850

2 SubmittersRCV000496640 RCV000661297

NM_007294.4(BRCA1):c.1387A>G (p.Lys463Glu)

SNV
Germline

Chr17:43094144

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Malignant tumor of breast
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10599270

rs_1135401844

5 SubmittersRCV000496213 RCV000776208 RCV001353394 RCV001851365

NM_007294.4(BRCA1):c.886A>T (p.Arg296Ter)

SNV
Germline

Chr17:43094645

Pathogenic

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1

Reviewed By Expert Panel

CA10600303

rs_748675395

2 SubmittersRCV000496403 RCV000661318

NM_007294.4(BRCA1):c.800C>A (p.Ser267Ter)

SNV
Germline

Chr17:43094731

Pathogenic

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1

Reviewed By Expert Panel

CA10600482

rs_80357392

2 SubmittersRCV000496658 RCV000661053

NM_007294.4(BRCA1):c.3G>A (p.Met1Ile)

SNV
Germline

Chr17:43124094

Pathogenic/Likely pathogenic

not specified
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA10602153

rs_80357475

7 SubmittersRCV000496941 RCV000584713 RCV000706864 RCV000989918 RCV001355558

NM_000059.4(BRCA2):c.1834G>A (p.Glu612Lys)

SNV
Germline

Chr13:32333312

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387766181

rs_1135401938

4 SubmittersRCV000496580 RCV001524384 RCV003645005

NM_000059.4(BRCA2):c.317-2A>G

SNV
Germline

Chr13:32325074

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary breast ovarian cancer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA387756456

rs_1477341630

2 SubmittersRCV000497962 RCV005091059

NM_000059.4(BRCA2):c.8T>C (p.Ile3Thr)

SNV
Germline

Chr13:32316468

Conflicting classifications of pathogenicity

Malignant tumor of breast
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided

Criteria Provided
Conflicting Classifications

CA387752900

rs_1555280096

5 SubmittersRCV000502615 RCV001342409 RCV002376913 RCV003464072 RCV003478066

NM_000059.4(BRCA2):c.1501A>G (p.Ile501Val)

SNV
Germline

Chr13:32332979

Conflicting classifications of pathogenicity

Malignant tumor of breast
Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387764486

rs_1555281924

6 SubmittersRCV000503284 RCV002524132 RCV002508217 RCV003157605

NM_000059.4(BRCA2):c.2033A>C (p.Asn678Thr)

SNV
Germline

Chr13:32336388

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA387768887

rs_1555282412

6 SubmittersRCV000569537 RCV001865589 RCV003478067 RCV004802102

NM_000059.4(BRCA2):c.2875G>A (p.Val959Ile)

SNV
Germline

Chr13:32337230

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA387774046

rs_1555282921

6 SubmittersRCV000503350 RCV000582365 RCV001857061 RCV004802105

NM_000059.4(BRCA2):c.3318C>G (p.Ser1106Arg)

SNV
Germline

Chr13:32337673

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
not specified

Criteria Provided
Conflicting Classifications

CA387776227

rs_1298550035

8 SubmittersRCV001045201 RCV000500392 RCV000580879 RCV002465693

NM_000059.4(BRCA2):c.3328G>T (p.Glu1110Ter)

SNV
Germline

Chr13:32337683

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA387776265

rs_1555283173

2 SubmittersRCV000661412 RCV000502627

NM_000059.4(BRCA2):c.4037C>A (p.Thr1346Asn)

SNV
Germline

Chr13:32338392

Conflicting classifications of pathogenicity

Malignant tumor of breast
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA387779081

rs_1555283519

5 SubmittersRCV000500883 RCV000637490 RCV002256321 RCV004760535

NM_000059.4(BRCA2):c.4624G>A (p.Val1542Met)

SNV
Germline

Chr13:32338979

Conflicting classifications of pathogenicity

not specified
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA247508167

rs_28897729

8 SubmittersRCV000500406 RCV000538825 RCV000573422 RCV001353720 RCV003478069

NM_000059.4(BRCA2):c.4918C>T (p.His1640Tyr)

SNV
Germline

Chr13:32339273

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA6940826

rs_765892492

5 SubmittersRCV000503156 RCV000772752 RCV003645008

NM_000059.4(BRCA2):c.5033A>C (p.Lys1678Thr)

SNV
Germline

Chr13:32339388

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA247508914

rs_28897733

5 SubmittersRCV000501473 RCV000564353 RCV000548988

NM_000059.4(BRCA2):c.5261A>G (p.Asp1754Gly)

SNV
Germline

Chr13:32339616

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified

Criteria Provided
Conflicting Classifications

CA6940861

rs_772772727

6 SubmittersRCV000499471 RCV000510048 RCV000637713 RCV005431710

NM_000059.4(BRCA2):c.5347A>G (p.Lys1783Glu)

SNV
Germline

Chr13:32339702

Conflicting classifications of pathogenicity

Malignant tumor of breast
Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387785018

rs_1555284184

6 SubmittersRCV000500557 RCV000541889 RCV000985543 RCV002350115

NM_000059.4(BRCA2):c.5947G>A (p.Gly1983Arg)

SNV
Germline

Chr13:32340302

Conflicting classifications of pathogenicity

Malignant tumor of breast
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387787581

rs_1555284478

3 SubmittersRCV000503696 RCV000794061 RCV003157609

NM_000059.4(BRCA2):c.6083A>G (p.Glu2028Gly)

SNV
Germline

Chr13:32340438

Conflicting classifications of pathogenicity

Malignant tumor of breast
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387788024

rs_1555284531

4 SubmittersRCV000504546 RCV000565096 RCV001851396

NM_000059.4(BRCA2):c.6315A>G (p.Ile2105Met)

SNV
Germline

Chr13:32340670

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA6940944

rs_398122552

7 SubmittersRCV000637801 RCV000771444 RCV000780023 RCV002476000 RCV004003517

NM_000059.4(BRCA2):c.6373A>G (p.Thr2125Ala)

SNV
Germline

Chr13:32340728

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV006375959 RCV006480216

NM_000059.4(BRCA2):c.6496G>C (p.Val2166Leu)

SNV
Germline

Chr13:32340851

Conflicting classifications of pathogenicity

Malignant tumor of breast
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387789529

rs_750084851

5 SubmittersRCV000499853 RCV000687551 RCV000776708

NM_000059.4(BRCA2):c.6530T>A (p.Ile2177Asn)

SNV
Germline

Chr13:32340885

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387789661

rs_1060502462

2 SubmittersRCV003158944 RCV002222212

NM_000059.4(BRCA2):c.6599T>C (p.Phe2200Ser)

SNV
Germline

Chr13:32340954

Conflicting classifications of pathogenicity

Malignant tumor of breast
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA387790079

rs_1372423132

5 SubmittersRCV000502259 RCV000563833 RCV000557523 RCV004003518

NM_000059.4(BRCA2):c.8614G>A (p.Glu2872Lys)

SNV
Germline

Chr13:32371082

Conflicting classifications of pathogenicity

Malignant tumor of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Breast and/or ovarian cancer

Criteria Provided
Conflicting Classifications

CA387752940

rs_1555287788

7 SubmittersRCV000504275 RCV000564672 RCV001824812 RCV003766811 RCV003150245

NM_007294.4(BRCA1):c.5557T>A (p.Tyr1853Asn)

SNV
Germline

Chr17:43045713

Likely pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary breast ovarian cancer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA10590209

rs_2050860958

4 SubmittersRCV001072339 RCV001357015 RCV001247281

NM_007294.4(BRCA1):c.5251C>G (p.Arg1751Gly)

SNV
Germline

Chr17:43057078

Likely pathogenic

Malignant tumor of breast
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome

Criteria Provided
Single Submitter

CA10591045

rs_80357123

3 SubmittersRCV000502853 RCV001075934 RCV001379713

NM_007294.4(BRCA1):c.5236C>T (p.His1746Tyr)

SNV
Germline

Chr17:43057093

Conflicting classifications of pathogenicity

Breast and/or ovarian cancer
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10591068

rs_80357146

6 SubmittersRCV000735485 RCV001072555 RCV004948369 RCV004999546 RCV006463132

NM_007294.4(BRCA1):c.5060T>G (p.Val1687Gly)

SNV
Germline

Chr17:43067622

Likely pathogenic

Malignant tumor of breast
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Inherited breast cancer and ovarian cancer
Inherited ovarian cancer (without breast cancer)

Criteria Provided
Multiple Submitters
No Conflicts

CA10591398

rs_1555579627

5 SubmittersRCV000502014 RCV001077504 RCV001269393 RCV005055120 RCV006436793

NM_007294.4(BRCA1):c.4666C>T (p.Gln1556Ter)

SNV
Germline

Chr17:43074340

Pathogenic

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast and/or ovarian cancer
Breast-ovarian cancer, familial, susceptibility to, 1
Inherited breast cancer and ovarian cancer

Reviewed By Expert Panel

CA10592179

rs_1555581812

8 SubmittersRCV000501033 RCV001182956 RCV001271026 RCV000661316 RCV004584217

NM_007294.4(BRCA1):c.4654T>C (p.Tyr1552His)

SNV
Germline

Chr17:43074352

Conflicting classifications of pathogenicity

Malignant tumor of breast
Hereditary breast ovarian cancer syndrome
Breast and/or ovarian cancer
Hereditary cancer-predisposing syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 1
Familial cancer of breast
Pancreatic cancer, susceptibility to, 4
Fanconi anemia, complementation group S
not specified
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA10592205

rs_1265352633

11 SubmittersRCV000504104 RCV000532651 RCV000735520 RCV000776618 RCV000758836 RCV000765359 RCV003330731 RCV004003514

NM_007294.4(BRCA1):c.4485-2A>T

SNV
Germline

Chr17:43074523

Likely pathogenic

Hereditary breast ovarian cancer syndrome
Malignant tumor of breast

Criteria Provided
Single Submitter

CA10592560

rs_80358054

2 SubmittersRCV000500292 RCV001353851

NM_007294.4(BRCA1):c.4357+4T>C

SNV
Germline

Chr17:43082400

Conflicting classifications of pathogenicity

Malignant tumor of breast
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA645373144

rs_1555583978

5 SubmittersRCV000504190 RCV000570421 RCV003766810 RCV005620367

NM_007294.4(BRCA1):c.3809G>A (p.Cys1270Tyr)

SNV
Germline

Chr17:43091722

Conflicting classifications of pathogenicity

Malignant tumor of breast
Breast and/or ovarian cancer
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10594351

rs_1207787135

4 SubmittersRCV000503189 RCV000735460 RCV003157603 RCV003766809

NM_007294.4(BRCA1):c.3078T>G (p.Ile1026Met)

SNV
Germline

Chr17:43092453

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10595833

rs_1555588422

5 SubmittersRCV000501071 RCV001018499 RCV002527176

NM_007294.4(BRCA1):c.2762A>G (p.Gln921Arg)

SNV
Germline

Chr17:43092769

Conflicting classifications of pathogenicity

Malignant tumor of breast
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10596468

rs_1555588991

3 SubmittersRCV000501257 RCV001057647 RCV003157600

NM_007294.4(BRCA1):c.2074C>T (p.His692Tyr)

SNV
Germline

Chr17:43093457

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
not specified

Criteria Provided
Conflicting Classifications

CA057746

rs_545736576

6 SubmittersRCV000775171 RCV001355290 RCV001851395 RCV004525947

NM_007294.4(BRCA1):c.1441C>G (p.Leu481Val)

SNV
Germline

Chr17:43094090

Conflicting classifications of pathogenicity

Malignant tumor of breast
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast and/or ovarian cancer
Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA10599158

rs_1397842308

11 SubmittersRCV000501590 RCV000555910 RCV000575549 RCV000735490 RCV000989903 RCV002263705 RCV003607296

NM_007294.4(BRCA1):c.413T>C (p.Leu138Pro)

SNV
Germline

Chr17:43104150

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA055866

rs_200449040

5 SubmittersRCV000539830 RCV000571695 RCV001358114 RCV003316646

NM_007294.4(BRCA1):c.164A>G (p.Lys55Arg)

SNV
Germline

Chr17:43106504

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Malignant tumor of breast
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10601828

rs_2054786724

4 SubmittersRCV001072592 RCV001358045 RCV001342845

NM_007294.4(BRCA1):c.-9C>G

SNV
Germline

Chr17:43124105

Conflicting classifications of pathogenicity

Malignant tumor of breast
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA645372632

rs_1555601059

4 SubmittersRCV000501500 RCV001076401 RCV001503999 RCV004999545

NM_000059.4(BRCA2):c.-188C>T

SNV
Germline

Chr13:32315519

Conflicting classifications of pathogenicity

not specified
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA247478059

rs_556172218

3 SubmittersRCV000500828 RCV001510598 RCV002256322

NM_000059.4(BRCA2):c.6423T>G (p.Gly2141=)

SNV
Germline

Chr13:32340778

Conflicting classifications of pathogenicity

not specified
Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA6940952

rs_780721021

6 SubmittersRCV000502553 RCV000812649 RCV000985565 RCV002367683

NM_000059.4(BRCA2):c.6734T>A (p.Leu2245Gln)

SNV
Germline

Chr13:32341089

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA6940979

rs_772795886

13 SubmittersRCV000504316 RCV000509998 RCV000798113 RCV001591137 RCV004003524

NM_007294.4(BRCA1):c.3745A>G (p.Thr1249Ala)

SNV
Germline

Chr17:43091786

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10594479

rs_1555587189

5 SubmittersRCV000502982 RCV001526203 RCV000821808

NM_007294.4(BRCA1):c.-125C>T

SNV
Germline

Chr17:43125376

Conflicting classifications of pathogenicity

not specified
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA290828330

rs_148196794

5 SubmittersRCV000504495 RCV001122394 RCV001517233 RCV002257770

NM_000059.4(BRCA2):c.7857G>C (p.Trp2619Cys)

SNV
Germline

Chr13:32362574

Likely pathogenic

Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
BRCA2-related cancer predisposition
Condition: not provided

Reviewed By Expert Panel

CA387747060

rs_80359011

8 SubmittersRCV000574330 RCV000664330 RCV000692296 RCV005356026 RCV006260085

NM_000059.4(BRCA2):c.-40+7G>T

SNV
Germline

Chr13:32315674

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Fanconi anemia complementation group D1
Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA645509353

rs_1555279969

4 SubmittersRCV000581674 RCV000868731 RCV001113448 RCV001113449 RCV004999552

NM_000059.4(BRCA2):c.-39-2A>G

SNV
Germline

Chr13:32316420

Pathogenic/Likely pathogenic

Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA645509354

rs_1555280053

8 SubmittersRCV000507187 RCV000624975 RCV000687385 RCV003372734 RCV003464087

NM_000059.4(BRCA2):c.63A>G (p.Lys21=)

SNV
Germline

Chr13:32316523

Conflicting classifications of pathogenicity

not specified
Breast neoplasm
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA483272670

rs_1280004443

7 SubmittersRCV000506652 RCV000677832 RCV001190707 RCV001449216 RCV004802109

NM_000059.4(BRCA2):c.475G>C (p.Val159Leu)

SNV
Germline

Chr13:32326150

Conflicting classifications of pathogenicity

not specified
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387757259

rs_80358702

3 SubmittersRCV000507908 RCV003530059 RCV005306048

NM_000059.4(BRCA2):c.901G>A (p.Asp301Asn)

SNV
Germline

Chr13:32332379

Conflicting classifications of pathogenicity

not specified
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
BRCA2-related disorder

Criteria Provided
Conflicting Classifications

CA387760679

rs_1555281626

7 SubmittersRCV000508473 RCV000691294 RCV002376934 RCV004732911

NM_000059.4(BRCA2):c.1317T>G (p.Phe439Leu)

SNV
Germline

Chr13:32332795

Conflicting classifications of pathogenicity

not specified
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387762641

rs_1555281834

4 SubmittersRCV000506210 RCV001298558 RCV003157617

NM_000059.4(BRCA2):c.1368G>C (p.Glu456Asp)

SNV
Germline

Chr13:32332846

Conflicting classifications of pathogenicity

not specified
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA387762904

rs_747489126

6 SubmittersRCV000508440 RCV001343802 RCV002383977 RCV003493611

NM_000059.4(BRCA2):c.1616G>T (p.Gly539Val)

SNV
Germline

Chr13:32333094

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387764890

rs_1555281985

3 SubmittersRCV000506682 RCV003157618 RCV003645010

NM_000059.4(BRCA2):c.2012C>A (p.Ser671Tyr)

SNV
Germline

Chr13:32336367

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387768773

rs_1555282398

3 SubmittersRCV000506859 RCV003157620 RCV006612372

NM_000059.4(BRCA2):c.2749G>A (p.Val917Ile)

SNV
Germline

Chr13:32337104

Conflicting classifications of pathogenicity

not specified
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA387773636

rs_1555282822

7 SubmittersRCV000508368 RCV000816970 RCV002438230 RCV004722846 RCV004802107

NM_000059.4(BRCA2):c.2791G>A (p.Gly931Arg)

SNV
Germline

Chr13:32337146

Conflicting classifications of pathogenicity

not specified
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
BRCA2-related disorder

Criteria Provided
Conflicting Classifications

CA387773728

rs_1555282848

6 SubmittersRCV000505999 RCV000637737 RCV001016616 RCV004535631

NM_000059.4(BRCA2):c.2860G>A (p.Glu954Lys)

SNV
Germline

Chr13:32337215

Conflicting classifications of pathogenicity

not specified
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387773971

rs_1555282911

3 SubmittersRCV000507990 RCV003645011 RCV003157623

NM_000059.4(BRCA2):c.2907A>G (p.Gln969=)

SNV
Germline

Chr13:32337262

Conflicting classifications of pathogenicity

not specified
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA483437187

rs_1555282935

3 SubmittersRCV000507133 RCV002056898 RCV004023416

NM_000059.4(BRCA2):c.2942A>C (p.Lys981Thr)

SNV
Germline

Chr13:32337297

Conflicting classifications of pathogenicity

not specified
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387774324

rs_398122757

3 SubmittersRCV000507487 RCV001857247 RCV003157624

NM_000059.4(BRCA2):c.3008A>G (p.His1003Arg)

SNV
Germline

Chr13:32337363

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA387774719

rs_1555283008

4 SubmittersRCV000572549 RCV003645012 RCV006260086

NM_000059.4(BRCA2):c.3016G>A (p.Gly1006Arg)

SNV
Germline

Chr13:32337371

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387774800

rs_886038083

3 SubmittersRCV000507608 RCV003157625 RCV003530058

NM_000059.4(BRCA2):c.3655T>G (p.Phe1219Val)

SNV
Germline

Chr13:32338010

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
BRCA2-related cancer predisposition
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6940713

rs_80358610

7 SubmittersRCV000506626 RCV000581561 RCV000702274 RCV004802108 RCV006260087

NM_000059.4(BRCA2):c.3776G>A (p.Ser1259Asn)

SNV
Germline

Chr13:32338131

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
not specified

Criteria Provided
Conflicting Classifications

CA6940725

rs_762488820

6 SubmittersRCV000700054 RCV000758886 RCV001021108 RCV004003538 RCV005900931

NM_000059.4(BRCA2):c.3826G>A (p.Glu1276Lys)

SNV
Germline

Chr13:32338181

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
BRCA2-related disorder

Criteria Provided
Conflicting Classifications

CA387778506

rs_878853575

8 SubmittersRCV000506737 RCV000563847 RCV000546808 RCV004535632

NM_000059.4(BRCA2):c.4493G>A (p.Gly1498Asp)

SNV
Germline

Chr13:32338848

Conflicting classifications of pathogenicity

not specified
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387781553

rs_1555283809

3 SubmittersRCV000506282 RCV001217330 RCV003157627

NM_000059.4(BRCA2):c.4985C>T (p.Ser1662Leu)

SNV
Germline

Chr13:32339340

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387783879

rs_886040559

5 SubmittersRCV000506708 RCV000581612 RCV001857249

NM_000059.4(BRCA2):c.5073A>T (p.Lys1691Asn)

SNV
Germline

Chr13:32339428

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA6940845

rs_760482209

3 SubmittersRCV000507166 RCV003157628 RCV006463178

NM_000059.4(BRCA2):c.5189A>G (p.Asn1730Ser)

SNV
Germline

Chr13:32339544

Conflicting classifications of pathogenicity

not specified
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA6940853

rs_766080044

4 SubmittersRCV000508199 RCV000554468 RCV001188185

NM_000059.4(BRCA2):c.5625G>T (p.Lys1875Asn)

SNV
Germline

Chr13:32339980

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified

Criteria Provided
Conflicting Classifications

CA387786114

rs_1316343192

8 SubmittersRCV000507214 RCV000550120 RCV000776720 RCV001264547

NM_000059.4(BRCA2):c.5970T>C (p.Asp1990=)

SNV
Germline

Chr13:32340325

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA483438945

rs_1064794160

4 SubmittersRCV000506246 RCV000566634 RCV000927820 RCV004003539

NM_000059.4(BRCA2):c.6060A>G (p.Glu2020=)

SNV
Germline

Chr13:32340415

Conflicting classifications of pathogenicity

not specified
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA483439043

rs_1555284516

3 SubmittersRCV000506349 RCV001447306 RCV003478074

NM_000059.4(BRCA2):c.6151A>G (p.Asn2051Asp)

SNV
Germline

Chr13:32340506

Conflicting classifications of pathogenicity

not specified
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387788283

rs_1555284569

4 SubmittersRCV000508232 RCV000637423 RCV003157629

NM_000059.4(BRCA2):c.6222C>G (p.His2074Gln)

SNV
Germline

Chr13:32340577

Conflicting classifications of pathogenicity

not specified
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387788874

rs_1555284601

6 SubmittersRCV000506922 RCV000543074 RCV001025025

NM_000059.4(BRCA2):c.6832A>G (p.Ile2278Val)

SNV
Germline

Chr13:32341187

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA6940990

rs_772645059

6 SubmittersRCV001025708 RCV000508359 RCV001347217 RCV005356028

NM_000059.4(BRCA2):c.7047T>C (p.Phe2349=)

SNV
Germline

Chr13:32354900

Conflicting classifications of pathogenicity

not specified
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA483439344

rs_1555285985

3 SubmittersRCV000508119 RCV002060164 RCV004601189

NM_000059.4(BRCA2):c.7894G>A (p.Ala2632Thr)

SNV
Germline

Chr13:32362611

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
8 conditions
Condition: not provided

Criteria Provided
Conflicting Classifications

CA387747133

rs_1555286844

4 SubmittersRCV001857250 RCV004609413 RCV005010450 RCV005000048

NM_000059.4(BRCA2):c.7935A>G (p.Arg2645=)

SNV
Germline

Chr13:32362652

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA483260997

rs_1283509388

3 SubmittersRCV000563247 RCV000821252 RCV005000049

NM_000059.4(BRCA2):c.7977-2A>G

SNV
Germline

Chr13:32363177

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary breast ovarian cancer syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA387748410

rs_276174899

4 SubmittersRCV000507983 RCV002527340 RCV003464088

NM_000059.4(BRCA2):c.8050A>G (p.Lys2684Glu)

SNV
Germline

Chr13:32363252

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Infiltrating duct carcinoma of breast
Hereditary breast ovarian cancer syndrome
Familial cancer of breast
Condition: not provided

Criteria Provided
Conflicting Classifications

CA387749060

rs_1289414853

5 SubmittersRCV000564690 RCV000677840 RCV001371534 RCV004568648 RCV005000050

NM_000059.4(BRCA2):c.8764A>C (p.Ser2922Arg)

SNV
Germline

Chr13:32379326

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387755760

rs_80359132

3 SubmittersRCV004948373 RCV005000051 RCV006612373

NM_000059.4(BRCA2):c.9256+2T>C

SNV
Germline

Chr13:32380147

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA387758745

rs_1555288591

4 SubmittersRCV000507805 RCV000584001 RCV000637499

NM_000059.4(BRCA2):c.9354G>A (p.Met3118Ile)

SNV
Germline

Chr13:32394786

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
not specified

Criteria Provided
Conflicting Classifications

CA387761125

rs_1555289559

5 SubmittersRCV000799670 RCV003314602 RCV004609414 RCV004800435

NM_000059.4(BRCA2):c.9364G>C (p.Ala3122Pro)

SNV
Germline

Chr13:32394796

Likely pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
BRCA2-related cancer predisposition

Reviewed By Expert Panel

CA387761167

rs_587782313

5 SubmittersRCV000507354 RCV000581025 RCV001865647 RCV006260088

NM_007294.4(BRCA1):c.5574C>G (p.Ile1858Met)

SNV
Germline

Chr17:43045696

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10590178

rs_876659941

5 SubmittersRCV000507156 RCV000564494 RCV000637606 RCV001540362

NM_007294.4(BRCA1):c.5333-7A>G

SNV
Germline

Chr17:43049201

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA054601

rs_538969920

5 SubmittersRCV000507495 RCV000774927 RCV001073081 RCV001591153 RCV002060163

NM_007294.4(BRCA1):c.5332+5G>A

SNV
Germline

Chr17:43051058

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
not specified
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA645509525

rs_1555575663

4 SubmittersRCV001072714 RCV000506585 RCV001232263 RCV002350124

NM_007294.4(BRCA1):c.5282T>G (p.Phe1761Cys)

SNV
Germline

Chr17:43051113

Likely pathogenic

not specified
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
BRCA1-related cancer predisposition

Reviewed By Expert Panel

CA10590980

rs_80356905

4 SubmittersRCV000508677 RCV001254335 RCV001076012 RCV005628819

NM_007294.4(BRCA1):c.4508C>G (p.Ser1503Ter)

SNV
Germline

Chr17:43074498

Pathogenic

Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA10592512

rs_80357437

5 SubmittersRCV000508623 RCV000661371 RCV000698399

NM_007294.4(BRCA1):c.3938A>G (p.Gln1313Arg)

SNV
Germline

Chr17:43091593

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA059105

rs_765729710

6 SubmittersRCV000707493 RCV000759530 RCV001524538

NM_007294.4(BRCA1):c.3859G>A (p.Glu1287Lys)

SNV
Germline

Chr17:43091672

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10594245

rs_1555586934

3 SubmittersRCV000508621 RCV003157630 RCV005091146

NM_007294.4(BRCA1):c.2809A>T (p.Lys937Ter)

SNV
Germline

Chr17:43092722

Pathogenic

Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA10596375

rs_1555588915

4 SubmittersRCV000506940 RCV000661051 RCV002527338 RCV002438229

NM_007294.4(BRCA1):c.2339A>G (p.Gln780Arg)

SNV
Germline

Chr17:43093192

Conflicting classifications of pathogenicity

not specified
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10597329

rs_1410232200

7 SubmittersRCV000507027 RCV000559783 RCV000567591 RCV004003536 RCV005861123

NM_007294.4(BRCA1):c.2173A>G (p.Ser725Gly)

SNV
Germline

Chr17:43093358

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
not specified
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10597658

rs_1555590290

4 SubmittersRCV001051454 RCV000508351 RCV002431463

NM_007294.4(BRCA1):c.2072G>C (p.Arg691Thr)

SNV
Germline

Chr17:43093459

Conflicting classifications of pathogenicity

not specified
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10597858

rs_1555590574

3 SubmittersRCV000507364 RCV000698237 RCV003157612

NM_007294.4(BRCA1):c.1603G>A (p.Gly535Arg)

SNV
Germline

Chr17:43093928

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10598836

rs_1555591488

4 SubmittersRCV000559550 RCV003478072 RCV003157611

NM_007294.4(BRCA1):c.1560A>G (p.Lys520=)

SNV
Germline

Chr17:43093971

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA500233423

rs_1555591570

3 SubmittersRCV000506218 RCV001012181 RCV002056896

NM_007294.4(BRCA1):c.1502A>C (p.Lys501Thr)

SNV
Germline

Chr17:43094029

Conflicting classifications of pathogenicity

not specified
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA10599042

rs_113656989

5 SubmittersRCV000506462 RCV001857246 RCV002395219 RCV004003535

NM_007294.4(BRCA1):c.594-6C>T

SNV
Germline

Chr17:43095928

Conflicting classifications of pathogenicity

not specified
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA645509522

rs_1555593629

2 SubmittersRCV000506325 RCV001484779

NM_007294.4(BRCA1):c.453T>C (p.Ser151=)

SNV
Germline

Chr17:43099869

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA500124691

rs_1555594986

3 SubmittersRCV000508634 RCV001022672 RCV002527375

NM_007294.4(BRCA1):c.81-5G>A

SNV
Germline

Chr17:43115784

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA645509507

rs_1555599296

6 SubmittersRCV000507798 RCV000575672 RCV001076942 RCV002056897

NM_000546.6(TP53):c.375+2T>C

SNV
Germline

Chr17:7675992

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary breast ovarian cancer syndrome
Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1
Melanoma

Criteria Provided
Conflicting Classifications

CA397844132

rs_1555526469

7 SubmittersRCV000505908 RCV000586625 RCV000692558 RCV002289694 RCV002289693 RCV005900934

NM_007194.4(CHEK2):c.417C>A (p.Tyr139Ter)

SNV
Germline

Chr22:28725270

Pathogenic

Condition: not provided
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Familial cancer of breast
CHEK2-related cancer predisposition
Bone osteosarcoma
Prostate cancer
Hereditary breast ovarian cancer syndrome
Breast and/or ovarian cancer
Familial prostate cancer
CHEK2-related cancer predisposition
Bone osteosarcoma

Criteria Provided
Multiple Submitters
No Conflicts

CA411107953

rs_200917541

10 SubmittersRCV000507030 RCV000541871 RCV000572280 RCV000763476 RCV001375597 RCV003150248 RCV004796214

NM_000059.4(BRCA2):c.9501+8T>C

SNV
Germline

Chr13:32394941

Conflicting classifications of pathogenicity

not specified
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA645509343

rs_1555289625

2 SubmittersRCV000506319 RCV003645013

NM_007294.4(BRCA1):c.5382G>C (p.Glu1794Asp)

SNV
Germline

Chr17:43049145

Conflicting classifications of pathogenicity

not specified
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA054799

rs_397509275

8 SubmittersRCV000507400 RCV000605248 RCV000549672 RCV001725186 RCV002350127

NM_007294.4(BRCA1):c.2403T>G (p.Cys801Trp)

SNV
Germline

Chr17:43093128

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA058591

rs_80357381

5 SubmittersRCV000507842 RCV000575132 RCV003114637 RCV003441901

NM_000059.4(BRCA2):c.1381G>T (p.Glu461Ter)

SNV
Germline

Chr13:32332859

Pathogenic

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Reviewed By Expert Panel

CA387762984

rs_587782159

2 SubmittersRCV000506635 RCV000661624

NM_000059.4(BRCA2):c.277T>C (p.Ser93Pro)

SNV
Germline

Chr13:32319286

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA6940336

rs_776730435

3 SubmittersRCV001061330 RCV000509719

NM_000059.4(BRCA2):c.764A>G (p.Asn255Ser)

SNV
Germline

Chr13:32331001

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA387760145

rs_1555281475

5 SubmittersRCV000509829 RCV001349278 RCV001755757 RCV004802117

NM_000059.4(BRCA2):c.862C>T (p.Pro288Ser)

SNV
Germline

Chr13:32332340

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified

Criteria Provided
Conflicting Classifications

CA387760575

rs_1464889530

5 SubmittersRCV000509810 RCV001857313 RCV006452700

NM_000059.4(BRCA2):c.883G>T (p.Val295Leu)

SNV
Germline

Chr13:32332361

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387760645

rs_1254525537

4 SubmittersRCV000509721 RCV004003584 RCV006556135

NM_000059.4(BRCA2):c.986G>C (p.Arg329Thr)

SNV
Germline

Chr13:32332464

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387760972

rs_1555281666

3 SubmittersRCV000509620 RCV003645021

NM_000059.4(BRCA2):c.1012G>T (p.Ala338Ser)

SNV
Germline

Chr13:32332490

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387761095

rs_80358396

3 SubmittersRCV000510077 RCV002524954

NM_000059.4(BRCA2):c.1179T>A (p.Cys393Ter)

SNV
Germline

Chr13:32332657

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA387761977

rs_786201237

3 SubmittersRCV000661588 RCV000587625 RCV000509613

NM_000059.4(BRCA2):c.1219C>G (p.Gln407Glu)

SNV
Germline

Chr13:32332697

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA6940499

rs_781079248

7 SubmittersRCV000510003 RCV000781104 RCV001355771 RCV001857301 RCV004802113

NM_000059.4(BRCA2):c.1267A>G (p.Ile423Val)

SNV
Germline

Chr13:32332745

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast and/or ovarian cancer

Criteria Provided
Conflicting Classifications

CA387762358

rs_1555281802

4 SubmittersRCV000509782 RCV001857310 RCV003150250

NM_000059.4(BRCA2):c.1292C>A (p.Thr431Lys)

SNV
Germline

Chr13:32332770

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387762486

rs_876660828

3 SubmittersRCV000510006 RCV002524950

NM_000059.4(BRCA2):c.1339C>T (p.Pro447Ser)

SNV
Germline

Chr13:32332817

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387762726

rs_1555281846

3 SubmittersRCV001235508 RCV000509862

NM_000059.4(BRCA2):c.1480G>A (p.Val494Met)

SNV
Germline

Chr13:32332958

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Breast and/or ovarian cancer
Hereditary breast ovarian cancer syndrome
not specified

Criteria Provided
Conflicting Classifications

CA387764420

rs_1555281919

5 SubmittersRCV000509708 RCV000770712 RCV001323480 RCV004525952

NM_000059.4(BRCA2):c.1652A>G (p.Asp551Gly)

SNV
Germline

Chr13:32333130

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA387765005

rs_1555282001

7 SubmittersRCV000509898 RCV000759579 RCV001865677 RCV004802121

NM_000059.4(BRCA2):c.1733G>T (p.Gly578Val)

SNV
Germline

Chr13:32333211

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387765404

rs_398122730

3 SubmittersRCV000509702 RCV001857309

NM_000059.4(BRCA2):c.2125C>A (p.Leu709Met)

SNV
Germline

Chr13:32336480

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387770053

rs_80358489

3 SubmittersRCV001208233 RCV000509608

NM_000059.4(BRCA2):c.2161C>T (p.Pro721Ser)

SNV
Germline

Chr13:32336516

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA247501511

rs_867089743

4 SubmittersRCV000509668 RCV005091159

NM_000059.4(BRCA2):c.2418T>A (p.Asp806Glu)

SNV
Germline

Chr13:32336773

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387772078

rs_1131692107

3 SubmittersRCV000510100 RCV003645017

NM_000059.4(BRCA2):c.2444T>C (p.Met815Thr)

SNV
Germline

Chr13:32336799

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Malignant tumor of breast
not specified
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 2
8 conditions

Criteria Provided
Conflicting Classifications

CA387772239

rs_1303254121

12 SubmittersRCV000509649 RCV000589134 RCV000637404 RCV001355590 RCV001821426 RCV002250647 RCV004003567 RCV005004203

NM_000059.4(BRCA2):c.2581C>T (p.Gln861Ter)

SNV
Germline

Chr13:32336936

Pathogenic

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Gastric cancer
Condition: not provided

Reviewed By Expert Panel

CA387772589

rs_773356478

9 SubmittersRCV000588708 RCV000509677 RCV000661552 RCV003159650 RCV005000060

NM_000059.4(BRCA2):c.2597A>T (p.Glu866Val)

SNV
Germline

Chr13:32336952

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387772624

rs_1555282752

4 SubmittersRCV000510004 RCV003645020

NM_000059.4(BRCA2):c.2666A>G (p.Asn889Ser)

SNV
Germline

Chr13:32337021

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA387773363

rs_1555282782

7 SubmittersRCV000509614 RCV000637362 RCV004003579 RCV005000065

NM_000059.4(BRCA2):c.2744C>T (p.Thr915Ile)

SNV
Germline

Chr13:32337099

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA387773628

rs_786202795

6 SubmittersRCV000509602 RCV000637429 RCV001284081 RCV004003574

NM_000059.4(BRCA2):c.2755G>C (p.Glu919Gln)

SNV
Germline

Chr13:32337110

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387773650

rs_431825298

3 SubmittersRCV001065203 RCV000510037

NM_000059.4(BRCA2):c.3127G>T (p.Ala1043Ser)

SNV
Germline

Chr13:32337482

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387775720

rs_1455903281

3 SubmittersRCV000509843 RCV005091162

NM_000059.4(BRCA2):c.3146A>T (p.Asn1049Ile)

SNV
Germline

Chr13:32337501

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387775759

rs_1555283064

3 SubmittersRCV000510092 RCV001857305

NM_000059.4(BRCA2):c.3286G>C (p.Asp1096His)

SNV
Germline

Chr13:32337641

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387776112

rs_876660870

3 SubmittersRCV000509961 RCV001302775

NM_000059.4(BRCA2):c.3436G>T (p.Glu1146Ter)

SNV
Germline

Chr13:32337791

Pathogenic

Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA387776599

rs_1237049560

5 SubmittersRCV000509826 RCV000661493 RCV000780006

NM_000059.4(BRCA2):c.3464C>G (p.Thr1155Ser)

SNV
Germline

Chr13:32337819

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA387776761

rs_1406283407

5 SubmittersRCV001043039 RCV000509891 RCV005000061

NM_000059.4(BRCA2):c.3489T>A (p.Asp1163Glu)

SNV
Germline

Chr13:32337844

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387776904

rs_1555283263

3 SubmittersRCV000509700 RCV001865671

NM_000059.4(BRCA2):c.3640G>A (p.Val1214Met)

SNV
Germline

Chr13:32337995

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA247505516

rs_1015087797

5 SubmittersRCV000510016 RCV000637555 RCV001255569 RCV004802114

NM_000059.4(BRCA2):c.4133C>T (p.Thr1378Ile)

SNV
Germline

Chr13:32338488

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387779384

rs_945880747

4 SubmittersRCV000509798 RCV003530061

NM_000059.4(BRCA2):c.4156G>T (p.Asp1386Tyr)

SNV
Germline

Chr13:32338511

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387780018

rs_1555283600

3 SubmittersRCV001218365 RCV000509929

NM_000059.4(BRCA2):c.4307T>C (p.Ile1436Thr)

SNV
Germline

Chr13:32338662

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6940769

rs_746472081

7 SubmittersRCV000509985 RCV000540953 RCV003321639 RCV006260103

NM_000059.4(BRCA2):c.4403C>G (p.Ser1468Cys)

SNV
Germline

Chr13:32338758

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA387781148

rs_1555283769

5 SubmittersRCV000637582 RCV000509908 RCV001549721

NM_000059.4(BRCA2):c.4555C>G (p.Pro1519Ala)

SNV
Germline

Chr13:32338910

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA387781811

rs_1555283843

5 SubmittersRCV000510110 RCV000817797 RCV000985529

NM_000059.4(BRCA2):c.4593A>C (p.Lys1531Asn)

SNV
Germline

Chr13:32338948

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387781943

rs_386833397

3 SubmittersRCV000509691 RCV000792316

NM_000059.4(BRCA2):c.4930G>C (p.Glu1644Gln)

SNV
Germline

Chr13:32339285

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387783657

rs_1555283989

4 SubmittersRCV000509788 RCV001062161

NM_000059.4(BRCA2):c.5017A>C (p.Thr1673Pro)

SNV
Germline

Chr13:32339372

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387783956

rs_746274489

4 SubmittersRCV000509933 RCV001299174

NM_000059.4(BRCA2):c.5375C>A (p.Ser1792Tyr)

SNV
Germline

Chr13:32339730

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387785166

rs_1555284200

3 SubmittersRCV000509849 RCV002527392

NM_000059.4(BRCA2):c.5545G>A (p.Gly1849Ser)

SNV
Germline

Chr13:32339900

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387785944

rs_1555284257

3 SubmittersRCV000510089 RCV001857303

NM_000059.4(BRCA2):c.5602G>A (p.Asp1868Asn)

SNV
Germline

Chr13:32339957

Conflicting classifications of pathogenicity

Fanconi anemia complementation group D1
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA387786063

rs_80358781

7 SubmittersRCV001113817 RCV001113818 RCV000509970 RCV000692500 RCV006452699

NM_000059.4(BRCA2):c.5605A>C (p.Ser1869Arg)

SNV
Germline

Chr13:32339960

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387786070

rs_876659256

3 SubmittersRCV000509694 RCV002524952

NM_000059.4(BRCA2):c.5610C>G (p.Phe1870Leu)

SNV
Germline

Chr13:32339965

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA387786084

rs_1060504598

5 SubmittersRCV000510119 RCV002222187 RCV005600965

NM_000059.4(BRCA2):c.5671G>C (p.Ala1891Pro)

SNV
Germline

Chr13:32340026

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387786203

rs_587782644

4 SubmittersRCV000509858 RCV001857300

NM_000059.4(BRCA2):c.5708T>C (p.Ile1903Thr)

SNV
Germline

Chr13:32340063

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA247511407

rs_149474191

5 SubmittersRCV000509850 RCV001194025 RCV001342695 RCV004760545

NM_000059.4(BRCA2):c.5789T>G (p.Leu1930Ter)

SNV
Germline

Chr13:32340144

Pathogenic

Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA387787169

rs_397507805

3 SubmittersRCV000509941 RCV000661451 RCV006463192

NM_000059.4(BRCA2):c.6210A>T (p.Glu2070Asp)

SNV
Germline

Chr13:32340565

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome
Condition: not provided
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA387788854

rs_1555284596

8 SubmittersRCV000509632 RCV001192503 RCV001294765 RCV001755756 RCV005356038

NM_000059.4(BRCA2):c.6463C>G (p.Leu2155Val)

SNV
Germline

Chr13:32340818

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA387789372

rs_775035051

5 SubmittersRCV000510026 RCV000701295 RCV002274048

NM_000059.4(BRCA2):c.6476A>C (p.Gln2159Pro)

SNV
Germline

Chr13:32340831

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA6940959

rs_763486267

3 SubmittersRCV000510013 RCV002304211

NM_000059.4(BRCA2):c.6586A>G (p.Lys2196Glu)

SNV
Germline

Chr13:32340941

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA387789988

rs_398122561

5 SubmittersRCV000509744 RCV001857312 RCV003316661

NM_000059.4(BRCA2):c.6752A>G (p.His2251Arg)

SNV
Germline

Chr13:32341107

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA387791145

rs_1555284844

4 SubmittersRCV000510065 RCV001857311 RCV001775836

NM_000059.4(BRCA2):c.7115C>A (p.Ser2372Ter)

SNV
Germline

Chr13:32354968

Pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA387738655

rs_80358943

6 SubmittersRCV000509899 RCV000657570 RCV000661838 RCV001865678

NM_000059.4(BRCA2):c.7141C>G (p.Pro2381Ala)

SNV
Germline

Chr13:32354994

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA6941062

rs_777305503

7 SubmittersRCV000510075 RCV000704526 RCV000588094 RCV004568654

NM_000059.4(BRCA2):c.7318C>T (p.His2440Tyr)

SNV
Germline

Chr13:32355171

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387741076

rs_1555286077

2 SubmittersRCV000509651 RCV000799628

NM_000059.4(BRCA2):c.7552C>G (p.Leu2518Val)

SNV
Germline

Chr13:32356544

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA387743693

rs_1555286279

4 SubmittersRCV000509814 RCV001857302 RCV005356039

NM_000059.4(BRCA2):c.7600G>A (p.Ala2534Thr)

SNV
Germline

Chr13:32356592

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
BRCA2-related disorder

Criteria Provided
Conflicting Classifications

CA387743948

rs_1555286305

4 SubmittersRCV000509992 RCV000546474 RCV003478088 RCV004535647

NM_000059.4(BRCA2):c.7693G>A (p.Glu2565Lys)

SNV
Germline

Chr13:32357817

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
8 conditions
Hereditary breast ovarian cancer syndrome
Condition: not provided
BRCA2-related cancer predisposition
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA6941133

rs_764761862

8 SubmittersRCV000509639 RCV000765137 RCV001217044 RCV001284442 RCV004802119 RCV005600964

NM_000059.4(BRCA2):c.7765C>T (p.Pro2589Ser)

SNV
Germline

Chr13:32357889

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA387745881

rs_753047043

6 SubmittersRCV000510040 RCV000540925 RCV003493614 RCV004808742

NM_000059.4(BRCA2):c.7926T>G (p.Phe2642Leu)

SNV
Germline

Chr13:32362643

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA387747199

rs_1555286858

3 SubmittersRCV000510022 RCV001346282 RCV000759663

NM_000059.4(BRCA2):c.8034G>C (p.Arg2678Ser)

SNV
Germline

Chr13:32363236

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387748965

rs_1204728357

2 SubmittersRCV000510093 RCV001857308

NM_000059.4(BRCA2):c.8045C>T (p.Ala2682Val)

SNV
Germline

Chr13:32363247

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Malignant tumor of breast
Hereditary breast ovarian cancer syndrome
Condition: not provided
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA6941183

rs_773506092

6 SubmittersRCV000510079 RCV001357767 RCV001857307 RCV002476021 RCV003464098

NM_000059.4(BRCA2):c.8206C>T (p.Leu2736Phe)

SNV
Germline

Chr13:32363408

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA387749757

rs_1555287042

5 SubmittersRCV000510051 RCV001171397 RCV002524951 RCV003476207

NM_000059.4(BRCA2):c.8230A>G (p.Arg2744Gly)

SNV
Germline

Chr13:32363432

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA387749854

rs_1555287055

3 SubmittersRCV000509860 RCV000536936 RCV004003573

NM_000059.4(BRCA2):c.8285C>G (p.Pro2762Arg)

SNV
Germline

Chr13:32363487

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387750102

rs_398122600

4 SubmittersRCV000509733 RCV001171398 RCV003530062

NM_000059.4(BRCA2):c.8392C>T (p.Pro2798Ser)

SNV
Germline

Chr13:32370462

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA6941226

rs_750640009

2 SubmittersRCV000509718 RCV003645018

NM_000059.4(BRCA2):c.8419T>C (p.Ser2807Pro)

SNV
Germline

Chr13:32370489

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA387752524

rs_1555287637

5 SubmittersRCV000509655 RCV000780035 RCV001213290 RCV004802120

NM_000059.4(BRCA2):c.8497A>T (p.Lys2833Ter)

SNV
Germline

Chr13:32370965

Pathogenic

Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome

Reviewed By Expert Panel

CA387752678

rs_1555287732

3 SubmittersRCV000510031 RCV000661553 RCV001857304

NM_000059.4(BRCA2):c.8591C>G (p.Ala2864Gly)

SNV
Germline

Chr13:32371059

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA387752861

rs_80359116

4 SubmittersRCV001069755 RCV000509804 RCV004802116

NM_000059.4(BRCA2):c.8750T>C (p.Leu2917Pro)

SNV
Germline

Chr13:32376787

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA387755087

rs_1555288178

3 SubmittersRCV000510060 RCV002527391 RCV003478087

NM_000059.4(BRCA2):c.8791A>G (p.Asn2931Asp)

SNV
Germline

Chr13:32379353

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
8 conditions
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA247493100

rs_895758995

4 SubmittersRCV000509838 RCV000559269 RCV005010458 RCV005620953

NM_000059.4(BRCA2):c.9049A>G (p.Lys3017Glu)

SNV
Germline

Chr13:32379845

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Hereditary breast ovarian cancer syndrome
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA387757536

rs_1555288473

7 SubmittersRCV000510001 RCV000985617 RCV001293618 RCV001312989 RCV003464099 RCV004003572

NM_000059.4(BRCA2):c.9134T>C (p.Leu3045Ser)

SNV
Germline

Chr13:32380023

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA387757830

rs_1205776232

4 SubmittersRCV000509882 RCV001800726 RCV001865675 RCV004568655

NM_000059.4(BRCA2):c.9394A>C (p.Lys3132Gln)

SNV
Germline

Chr13:32394826

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA387761330

rs_1555289577

3 SubmittersRCV000509954 RCV002524953 RCV005000066

NM_000059.4(BRCA2):c.9443C>G (p.Ala3148Gly)

SNV
Germline

Chr13:32394875

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387761599

rs_587781514

2 SubmittersRCV000510034 RCV005091161

NM_000059.4(BRCA2):c.9998T>C (p.Leu3333Pro)

SNV
Germline

Chr13:32398511

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA387767656

rs_1555290016

5 SubmittersRCV000509922 RCV002527394 RCV003464100 RCV004003580

NM_000059.4(BRCA2):c.10238C>A (p.Thr3413Lys)

SNV
Germline

Chr13:32398751

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA387768618

rs_730881584

5 SubmittersRCV000509846 RCV000698928 RCV003389648 RCV005000067

NM_007294.4(BRCA1):c.4949T>C (p.Met1650Thr)

SNV
Germline

Chr17:43070965

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA053470

rs_778487856

4 SubmittersRCV000510095 RCV001072873 RCV001211494

NM_007294.4(BRCA1):c.4676-1G>C

SNV
Germline

Chr17:43071239

Likely pathogenic

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Multiple Submitters
No Conflicts

CA10592156

rs_80358008

6 SubmittersRCV000509618 RCV000551481 RCV001692164 RCV003476205

NM_007294.4(BRCA1):c.4088C>A (p.Ser1363Ter)

SNV
Germline

Chr17:43091443

Pathogenic

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA10593781

rs_398122680

4 SubmittersRCV001234780 RCV000660912 RCV000510005

NM_007294.4(BRCA1):c.4020G>T (p.Leu1340Phe)

SNV
Germline

Chr17:43091511

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10593918

rs_1555586637

3 SubmittersRCV000510084 RCV002524948

NM_007294.4(BRCA1):c.3901A>T (p.Ser1301Cys)

SNV
Germline

Chr17:43091630

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10594162

rs_786203580

4 SubmittersRCV000509819 RCV000548325

NM_007294.4(BRCA1):c.3616G>T (p.Ala1206Ser)

SNV
Germline

Chr17:43091915

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA10594736

rs_1555587407

6 SubmittersRCV000510023 RCV000590578 RCV000701491 RCV004591456

NM_007294.4(BRCA1):c.3586A>T (p.Thr1196Ser)

SNV
Germline

Chr17:43091945

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA10594790

rs_1340335862

7 SubmittersRCV000509705 RCV000709475 RCV000989890

NM_007294.4(BRCA1):c.3533G>A (p.Ser1178Asn)

SNV
Germline

Chr17:43091998

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10594904

rs_1294360179

6 SubmittersRCV000510057 RCV000552904 RCV001194381 RCV006260102

NM_007294.4(BRCA1):c.3511A>G (p.Lys1171Glu)

SNV
Germline

Chr17:43092020

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10594950

rs_730882164

3 SubmittersRCV001215892 RCV000509884

NM_007294.4(BRCA1):c.3245C>T (p.Ala1082Val)

SNV
Germline

Chr17:43092286

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified

Criteria Provided
Conflicting Classifications

CA10595491

rs_1555588115

4 SubmittersRCV000510115 RCV001865670 RCV002469178

NM_007294.4(BRCA1):c.3225C>G (p.Asn1075Lys)

SNV
Germline

Chr17:43092306

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA058052

rs_778607600

4 SubmittersRCV000509680 RCV005000062 RCV006556133

NM_007294.4(BRCA1):c.3196G>T (p.Glu1066Ter)

SNV
Germline

Chr17:43092335

Pathogenic

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1

Reviewed By Expert Panel

CA10595591

rs_1555588220

5 SubmittersRCV000509732 RCV001328375 RCV000661304

NM_007294.4(BRCA1):c.3034A>G (p.Arg1012Gly)

SNV
Germline

Chr17:43092497

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10595925

rs_1555588503

3 SubmittersRCV000509939 RCV001314603

NM_007294.4(BRCA1):c.2764A>G (p.Thr922Ala)

SNV
Germline

Chr17:43092767

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10596463

rs_1555588988

3 SubmittersRCV000509936 RCV006556134

NM_007294.4(BRCA1):c.2645G>A (p.Cys882Tyr)

SNV
Germline

Chr17:43092886

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10596705

rs_1555589241

3 SubmittersRCV000509689 RCV006612377

NM_007294.4(BRCA1):c.2539A>G (p.Met847Val)

SNV
Germline

Chr17:43092992

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA10596920

rs_1555589446

5 SubmittersRCV000510085 RCV003766890 RCV004003577

NM_007294.4(BRCA1):c.2503C>T (p.His835Tyr)

SNV
Germline

Chr17:43093028

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
not specified
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA058502

rs_751656678

7 SubmittersRCV000509855 RCV000759507 RCV000792748 RCV002465695 RCV004003582

NM_007294.4(BRCA1):c.2267G>A (p.Arg756Lys)

SNV
Germline

Chr17:43093264

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA10597465

rs_975724885

5 SubmittersRCV000509670 RCV002225642 RCV004003568

NM_007294.4(BRCA1):c.1686T>G (p.Ile562Met)

SNV
Germline

Chr17:43093845

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA10598658

rs_1268133978

5 SubmittersRCV001049594 RCV000510061 RCV001527021 RCV004003578

NM_007294.4(BRCA1):c.1264T>C (p.Tyr422His)

SNV
Germline

Chr17:43094267

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
BRCA1-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA057131

rs_764186025

6 SubmittersRCV000510130 RCV000637451 RCV001778985 RCV004802112

NM_007294.4(BRCA1):c.1199A>G (p.Asp400Gly)

SNV
Germline

Chr17:43094332

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10599652

rs_1555592245

3 SubmittersRCV000509770 RCV001040180

NM_007294.4(BRCA1):c.1139A>G (p.Gln380Arg)

SNV
Germline

Chr17:43094392

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10599781

rs_876659193

3 SubmittersRCV000509823 RCV000537618

NM_007294.4(BRCA1):c.1040T>A (p.Leu347Gln)

SNV
Germline

Chr17:43094491

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 1
Fanconi anemia, complementation group S
Pancreatic cancer, susceptibility to, 4

Criteria Provided
Conflicting Classifications

CA8589954

rs_757987511

5 SubmittersRCV001204569 RCV000510063 RCV000759486 RCV005018871

NM_007294.4(BRCA1):c.1025T>C (p.Leu342Pro)

SNV
Germline

Chr17:43094506

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10600008

rs_1555592634

4 SubmittersRCV000510041 RCV002298636

NM_007294.4(BRCA1):c.866G>A (p.Ser289Asn)

SNV
Germline

Chr17:43094665

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA056835

rs_776999497

3 SubmittersRCV000509692 RCV001296549

NM_007294.4(BRCA1):c.804C>G (p.Asn268Lys)

SNV
Germline

Chr17:43094727

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 1
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA056741

rs_771076131

7 SubmittersRCV000510083 RCV001857299 RCV000985447 RCV003227773 RCV003607297

NM_007294.4(BRCA1):c.677G>A (p.Cys226Tyr)

SNV
Germline

Chr17:43094854

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10600737

rs_1376262238

7 SubmittersRCV000509844 RCV001059852 RCV003321640 RCV004003569 RCV006260104

NM_007294.4(BRCA1):c.548G>T (p.Gly183Val)

SNV
Germline

Chr17:43097289

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
not specified

Criteria Provided
Conflicting Classifications

CA10601028

rs_1555594081

7 SubmittersRCV000509974 RCV001125056 RCV001865673 RCV003479147

NM_007294.4(BRCA1):c.206C>T (p.Thr69Ile)

SNV
Germline

Chr17:43106462

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
Breast-ovarian cancer, familial, susceptibility to, 1
Fanconi anemia, complementation group S

Criteria Provided
Conflicting Classifications

CA10601755

rs_273898675

7 SubmittersRCV000510054 RCV000554771 RCV000780988 RCV001077156 RCV005356041

NM_007294.4(BRCA1):c.67G>C (p.Glu23Gln)

SNV
Germline

Chr17:43124030

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10602023

rs_372047427

8 SubmittersRCV000510068 RCV001076497 RCV001224557 RCV001269115 RCV005000063

NM_007294.4(BRCA1):c.35A>G (p.Gln12Arg)

SNV
Germline

Chr17:43124062

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10602092

rs_1555601006

5 SubmittersRCV001076455 RCV000510066 RCV001857315

NM_007294.4(BRCA1):c.9A>T (p.Leu3Phe)

SNV
Germline

Chr17:43124088

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10602140

rs_780157871

6 SubmittersRCV001037875 RCV001072304 RCV001284306 RCV000509994

NM_000051.4(ATM):c.5497-2A>C

SNV
Germline

Chr11:108304673

Pathogenic/Likely pathogenic

Condition: not provided
Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Hereditary breast ovarian cancer syndrome
Ataxia-telangiectasia syndrome
Breast cancer, susceptibility to
Prostate cancer susceptibility
Ovarian cancer, susceptibility to, 1
Pancreatic Cancer Susceptibility 4
Breast-ovarian cancer, familial, susceptibility to, 1
Hepatocellular carcinoma

Criteria Provided
Multiple Submitters
No Conflicts

CA382545605

rs_786203796

17 SubmittersRCV000521216 RCV000557758 RCV000563654 RCV001171404 RCV003483650 RCV005863183 RCV005861126 RCV005901169

NM_000059.4(BRCA2):c.1440C>A (p.Cys480Ter)

SNV
Germline

Chr13:32332918

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary breast ovarian cancer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA387764299

rs_1555281911

3 SubmittersRCV000522902 RCV002469181

NM_000059.4(BRCA2):c.2099T>A (p.Leu700Ter)

SNV
Germline

Chr13:32336454

Pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
BRCA2-related cancer predisposition

Criteria Provided
Multiple Submitters
No Conflicts

CA387769896

rs_1555282449

6 SubmittersRCV000522630 RCV001178335 RCV001227638 RCV004556803 RCV005356052

NM_000059.4(BRCA2):c.4760C>T (p.Ala1587Val)

SNV
Germline

Chr13:32339115

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387783129

rs_1555283930

4 SubmittersRCV000520944 RCV003157632 RCV006463242

NM_000059.4(BRCA2):c.6298C>T (p.Gln2100Ter)

SNV
Germline

Chr13:32340653

Pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA387789022

rs_746661607

4 SubmittersRCV000520432 RCV005402937 RCV006556163

NM_000059.4(BRCA2):c.6833T>G (p.Ile2278Ser)

SNV
Germline

Chr13:32341188

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA387791489

rs_1555284865

6 SubmittersRCV000522420 RCV000819360 RCV001025709 RCV004586755 RCV004802123

NM_007294.4(BRCA1):c.5333-2A>G

SNV
Germline

Chr17:43049196

Pathogenic/Likely pathogenic

Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA10590803

rs_397509264

4 SubmittersRCV000521854 RCV001077231 RCV001853626 RCV004948377

NM_007294.4(BRCA1):c.1924G>T (p.Asp642Tyr)

SNV
Germline

Chr17:43093607

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10598177

rs_80357344

3 SubmittersRCV000522342 RCV003157631 RCV003530065

NM_000465.4(BARD1):c.1118G>A (p.Gly373Asp)

SNV
Germline

Chr2:214780756

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA64788116

rs_568305044

3 SubmittersRCV000532171 RCV002225649 RCV004023835

NM_000465.4(BARD1):c.1162A>C (p.Ile388Leu)

SNV
Germline

Chr2:214780712

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA350453915

rs_1553622215

3 SubmittersRCV000556490 RCV002225650 RCV002358482

NM_000465.4(BARD1):c.158G>A (p.Cys53Tyr)

SNV
Germline

Chr2:214809412

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA2090506

rs_747582517

3 SubmittersRCV000526941 RCV004601199 RCV004689783

NM_000465.4(BARD1):c.1810G>A (p.Val604Ile)

SNV
Germline

Chr2:214745722

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA350452480

rs_1553615089

4 SubmittersRCV000535091 RCV004948403 RCV005638504 RCV006273867

NM_000251.3(MSH2):c.2407A>G (p.Thr803Ala)

SNV
Germline

Chr2:47478468

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
not specified
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA46705221

rs_63751168

6 SubmittersRCV000543029 RCV000588000 RCV001015432 RCV001030715 RCV004003747

NM_000051.4(ATM):c.434T>G (p.Leu145Arg)

SNV
Germline

Chr11:108235772

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA382525216

rs_1555059346

3 SubmittersRCV000525165 RCV003483654 RCV003278875

NM_000059.4(BRCA2):c.908C>A (p.Ser303Tyr)

SNV
Germline

Chr13:32332386

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387760692

rs_867323565

2 SubmittersRCV000537427 RCV003157678

NM_000059.4(BRCA2):c.949A>G (p.Thr317Ala)

SNV
Germline

Chr13:32332427

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA387760842

rs_1555281645

6 SubmittersRCV000558233 RCV001019406 RCV005231038 RCV005422042

NM_000059.4(BRCA2):c.1219C>T (p.Gln407Ter)

SNV
Germline

Chr13:32332697

Pathogenic/Likely pathogenic

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA387762117

rs_781079248

5 SubmittersRCV000547485 RCV000583844 RCV001783044

NM_000059.4(BRCA2):c.2104A>G (p.Ile702Val)

SNV
Germline

Chr13:32336459

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA6940580

rs_774968533

6 SubmittersRCV000539846 RCV000755869 RCV003157642 RCV003483660

NM_000059.4(BRCA2):c.2133C>G (p.Cys711Trp)

SNV
Germline

Chr13:32336488

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387770092

rs_535547513

2 SubmittersRCV000554597 RCV003157643

NM_000059.4(BRCA2):c.2677C>T (p.Gln893Ter)

SNV
Germline

Chr13:32337032

Pathogenic

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA387773409

rs_1555282790

4 SubmittersRCV000559928 RCV001356785 RCV004023890 RCV004696935

NM_000059.4(BRCA2):c.2788T>G (p.Tyr930Asp)

SNV
Germline

Chr13:32337143

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387773721

rs_1168540941

3 SubmittersRCV000539927 RCV003157647

NM_000059.4(BRCA2):c.2805T>G (p.Asp935Glu)

SNV
Germline

Chr13:32337160

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387773754

rs_749138071

2 SubmittersRCV000544316 RCV003157649

NM_000059.4(BRCA2):c.2923A>T (p.Ile975Phe)

SNV
Germline

Chr13:32337278

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA6940641

rs_757213764

3 SubmittersRCV000538624 RCV000574427

NM_000059.4(BRCA2):c.3101T>G (p.Ile1034Ser)

SNV
Germline

Chr13:32337456

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387775331

rs_545974734

2 SubmittersRCV000544883 RCV003157651

NM_000059.4(BRCA2):c.3126A>C (p.Leu1042Phe)

SNV
Germline

Chr13:32337481

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA387775716

rs_1408500302

4 SubmittersRCV000537862 RCV003157652 RCV006260162

NM_000059.4(BRCA2):c.3160G>C (p.Asp1054His)

SNV
Germline

Chr13:32337515

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387775783

rs_1555283071

2 SubmittersRCV000536561 RCV003157653

NM_000059.4(BRCA2):c.3599G>A (p.Cys1200Tyr)

SNV
Germline

Chr13:32337954

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387777490

rs_1555283305

2 SubmittersRCV000532807 RCV003157657

NM_000059.4(BRCA2):c.3797A>T (p.His1266Leu)

SNV
Germline

Chr13:32338152

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387778400

rs_1555283399

2 SubmittersRCV000533420 RCV003157659

NM_000059.4(BRCA2):c.3863A>G (p.Asn1288Ser)

SNV
Germline

Chr13:32338218

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6940731

rs_80358630

7 SubmittersRCV000551285 RCV001177150 RCV003999057 RCV006260163

NM_000059.4(BRCA2):c.4012G>A (p.Gly1338Ser)

SNV
Germline

Chr13:32338367

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387779020

rs_1555283503

3 SubmittersRCV000545471 RCV003157662

NM_000059.4(BRCA2):c.4133C>A (p.Thr1378Asn)

SNV
Germline

Chr13:32338488

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA247506544

rs_945880747

3 SubmittersRCV000538971 RCV000572970

NM_000059.4(BRCA2):c.4378T>G (p.Phe1460Val)

SNV
Germline

Chr13:32338733

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387781034

rs_1555283754

4 SubmittersRCV000533478 RCV000777191

NM_000059.4(BRCA2):c.4421A>G (p.Lys1474Arg)

SNV
Germline

Chr13:32338776

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA6940779

rs_780660669

2 SubmittersRCV000554117 RCV003157666

NM_000059.4(BRCA2):c.4994A>G (p.Glu1665Gly)

SNV
Germline

Chr13:32339349

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA6940837

rs_777981245

6 SubmittersRCV000549907 RCV000567060 RCV001800750 RCV003234779

NM_000059.4(BRCA2):c.5459G>A (p.Cys1820Tyr)

SNV
Germline

Chr13:32339814

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387785630

rs_1555284235

4 SubmittersRCV000537912 RCV003157672

NM_000059.4(BRCA2):c.5720C>T (p.Ser1907Phe)

SNV
Germline

Chr13:32340075

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387786848

rs_1555284376

2 SubmittersRCV000529732 RCV003157673

NM_000059.4(BRCA2):c.6281A>C (p.Tyr2094Ser)

SNV
Germline

Chr13:32340636

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA387788993

rs_397507838

6 SubmittersRCV000546817 RCV000574242 RCV003999065 RCV006260166

NM_000059.4(BRCA2):c.6310A>C (p.Lys2104Gln)

SNV
Germline

Chr13:32340665

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387789045

rs_1555284629

3 SubmittersRCV000528876 RCV002367822

NM_000059.4(BRCA2):c.6351T>G (p.Cys2117Trp)

SNV
Germline

Chr13:32340706

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387789127

rs_876659368

3 SubmittersRCV000538226 RCV002367823

NM_000059.4(BRCA2):c.6736C>T (p.Pro2246Ser)

SNV
Germline

Chr13:32341091

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387791089

rs_1555284840

2 SubmittersRCV000552843 RCV003157676

NM_000059.4(BRCA2):c.6884G>C (p.Arg2295Thr)

SNV
Germline

Chr13:32344600

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 2
not specified

Criteria Provided
Conflicting Classifications

CA387792776

rs_1555285151

6 SubmittersRCV000554176 RCV000777234 RCV003607300 RCV003999066 RCV005239165

NM_000059.4(BRCA2):c.7277T>C (p.Ile2426Thr)

SNV
Germline

Chr13:32355130

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387740652

rs_1555286064

3 SubmittersRCV000550828 RCV000775959

NM_000059.4(BRCA2):c.7462A>G (p.Arg2488Gly)

SNV
Germline

Chr13:32356454

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA6941102

rs_746057464

6 SubmittersRCV000529176 RCV001026467 RCV001591221 RCV003483661

NM_000059.4(BRCA2):c.7595C>A (p.Pro2532His)

SNV
Germline

Chr13:32356587

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified
Breast-ovarian cancer, familial, susceptibility to, 2
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA247470136

rs_967458408

5 SubmittersRCV000538315 RCV001026599 RCV001255591 RCV003999068 RCV003476254

NM_000059.4(BRCA2):c.7823C>A (p.Pro2608Gln)

SNV
Germline

Chr13:32362540

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387746992

rs_1555286825

2 SubmittersRCV000546424 RCV002413491

NM_000059.4(BRCA2):c.7976+5G>T

SNV
Germline

Chr13:32362698

Pathogenic/Likely pathogenic

Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Multiple Submitters
No Conflicts

CA658656488

rs_786201180

7 SubmittersRCV000537532 RCV000985595 RCV000582257 RCV004760565

NM_000059.4(BRCA2):c.8293T>C (p.Cys2765Arg)

SNV
Germline

Chr13:32363495

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA387750135

rs_768247528

4 SubmittersRCV000524906 RCV000989070 RCV002431581 RCV004568789

NM_000059.4(BRCA2):c.8929T>C (p.Tyr2977His)

SNV
Germline

Chr13:32379491

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387757299

rs_587776473

3 SubmittersRCV000550010 RCV000771705

NM_000059.4(BRCA2):c.9094A>C (p.Lys3032Gln)

SNV
Germline

Chr13:32379890

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387757660

rs_1555288501

3 SubmittersRCV000547788 RCV001018828

NM_000059.4(BRCA2):c.9155G>T (p.Arg3052Leu)

SNV
Germline

Chr13:32380044

Likely pathogenic

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA387757934

rs_80359171

2 SubmittersRCV000533436 RCV002377049

NM_000059.4(BRCA2):c.9304G>A (p.Ala3102Thr)

SNV
Germline

Chr13:32394736

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Familial prostate cancer

Criteria Provided
Conflicting Classifications

CA6941375

rs_747073940

5 SubmittersRCV000548354 RCV000562297 RCV005357576

NM_000059.4(BRCA2):c.10187G>A (p.Ser3396Asn)

SNV
Germline

Chr13:32398700

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
BRCA2-related cancer predisposition
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA387768335

rs_889208749

9 SubmittersRCV000527103 RCV000563670 RCV000612812 RCV000985458 RCV004802132 RCV005367387

NM_000059.4(BRCA2):c.831T>C (p.Asn277=)

SNV
Germline

Chr13:32332309

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA483274660

rs_28897705

3 SubmittersRCV000550881 RCV000561272 RCV004701624

NM_000059.4(BRCA2):c.950C>T (p.Thr317Ile)

SNV
Germline

Chr13:32332428

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387760849

rs_1341473353

4 SubmittersRCV000535822 RCV000758977 RCV003157679

NM_000059.4(BRCA2):c.1537A>G (p.Lys513Glu)

SNV
Germline

Chr13:32333015

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA387764611

rs_1555281938

5 SubmittersRCV000542434 RCV000776771 RCV003999054

NM_000059.4(BRCA2):c.1905T>G (p.Asp635Glu)

SNV
Germline

Chr13:32333383

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
8 conditions
Condition: not provided

Criteria Provided
Conflicting Classifications

CA387767364

rs_1555282154

6 SubmittersRCV000552197 RCV001805161 RCV002476132 RCV004767349

NM_000059.4(BRCA2):c.2353A>G (p.Ile785Val)

SNV
Germline

Chr13:32336708

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Familial pancreatic carcinoma
not specified

Criteria Provided
Conflicting Classifications

CA6940598

rs_747748537

9 SubmittersRCV000537492 RCV000773187 RCV001770424 RCV005357574 RCV006452721

NM_000059.4(BRCA2):c.2435A>C (p.Asn812Thr)

SNV
Germline

Chr13:32336790

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387772190

rs_1555282665

2 SubmittersRCV000540692 RCV003157644

NM_000059.4(BRCA2):c.2485A>G (p.Lys829Glu)

SNV
Germline

Chr13:32336840

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA387772396

rs_1270048702

6 SubmittersRCV000524581 RCV000774651 RCV004561497 RCV006260161

NM_000059.4(BRCA2):c.2711G>A (p.Gly904Glu)

SNV
Germline

Chr13:32337066

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387773533

rs_1555282808

3 SubmittersRCV000526570 RCV003157646

NM_000059.4(BRCA2):c.2759C>T (p.Pro920Leu)

SNV
Germline

Chr13:32337114

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387773659

rs_1555282835

4 SubmittersRCV000556022 RCV001016518

NM_000059.4(BRCA2):c.2792G>C (p.Gly931Ala)

SNV
Germline

Chr13:32337147

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387773729

rs_587781685

2 SubmittersRCV000529554 RCV003157648

NM_000059.4(BRCA2):c.2911T>A (p.Leu971Ile)

SNV
Germline

Chr13:32337266

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387774190

rs_1555282936

3 SubmittersRCV000534263 RCV002438339

NM_000059.4(BRCA2):c.3503T>C (p.Met1168Thr)

SNV
Germline

Chr13:32337858

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA387776957

rs_80358598

7 SubmittersRCV000526728 RCV000571371 RCV002476133 RCV003607299 RCV003999055

NM_000059.4(BRCA2):c.3893T>G (p.Ile1298Ser)

SNV
Germline

Chr13:32338248

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA387778773

rs_80358633

5 SubmittersRCV000549778 RCV000583599 RCV006447333

NM_000059.4(BRCA2):c.3936T>G (p.Asn1312Lys)

SNV
Germline

Chr13:32338291

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387778862

rs_876659198

2 SubmittersRCV000528227 RCV003157660

NM_000059.4(BRCA2):c.4007T>C (p.Phe1336Ser)

SNV
Germline

Chr13:32338362

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA6940740

rs_757305371

6 SubmittersRCV000555839 RCV000567778 RCV001284420 RCV003999058

NM_000059.4(BRCA2):c.4147G>T (p.Asp1383Tyr)

SNV
Germline

Chr13:32338502

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387779981

rs_587782234

3 SubmittersRCV000532870 RCV003157665

NM_000059.4(BRCA2):c.4156G>A (p.Asp1386Asn)

SNV
Germline

Chr13:32338511

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA387780015

rs_1555283600

5 SubmittersRCV000553527 RCV001021966 RCV003317263

NM_000059.4(BRCA2):c.4211C>A (p.Ser1404Ter)

SNV
Germline

Chr13:32338566

Pathogenic

Hereditary breast ovarian cancer syndrome

Criteria Provided
Single Submitter

CA387780259

rs_41293489

1 SubmittersRCV000560709

NM_000059.4(BRCA2):c.4277C>T (p.Thr1426Ile)

SNV
Germline

Chr13:32338632

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA6940766

rs_748591104

10 SubmittersRCV000547653 RCV000772746 RCV000985521 RCV001355495 RCV002250653

NM_000059.4(BRCA2):c.4479A>C (p.Glu1493Asp)

SNV
Germline

Chr13:32338834

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387781493

rs_1555283805

2 SubmittersRCV000535063 RCV003157667

NM_000059.4(BRCA2):c.4508T>C (p.Leu1503Pro)

SNV
Germline

Chr13:32338863

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA387781611

rs_1555283814

4 SubmittersRCV000533731 RCV003157668 RCV006260164

NM_000059.4(BRCA2):c.4526A>G (p.Gln1509Arg)

SNV
Germline

Chr13:32338881

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA6940787

rs_764435740

5 SubmittersRCV000527013 RCV001284567 RCV002341297 RCV003999060

NM_000059.4(BRCA2):c.4606A>G (p.Lys1536Glu)

SNV
Germline

Chr13:32338961

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387781989

rs_1555283871

3 SubmittersRCV000525454 RCV002341298

NM_000059.4(BRCA2):c.4736C>T (p.Ala1579Val)

SNV
Germline

Chr13:32339091

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA387783044

rs_1555283920

8 SubmittersRCV000562970 RCV000545121 RCV000758899 RCV002469188

NM_000059.4(BRCA2):c.4831G>T (p.Val1611Leu)

SNV
Germline

Chr13:32339186

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387783324

rs_1555283948

3 SubmittersRCV000540740 RCV003157669

NM_000059.4(BRCA2):c.5149G>A (p.Glu1717Lys)

SNV
Germline

Chr13:32339504

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA247509100

rs_893978143

3 SubmittersRCV000525891 RCV003157670

NM_000059.4(BRCA2):c.5692G>T (p.Asp1898Tyr)

SNV
Germline

Chr13:32340047

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387786672

rs_1476725701

3 SubmittersRCV000552807 RCV000567107

NM_000059.4(BRCA2):c.5750C>G (p.Ser1917Ter)

SNV
Germline

Chr13:32340105

Pathogenic

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA387787011

rs_886040609

3 SubmittersRCV000548883 RCV002350228

NM_000059.4(BRCA2):c.5786T>C (p.Ile1929Thr)

SNV
Germline

Chr13:32340141

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387787159

rs_1555284396

4 SubmittersRCV000547354 RCV003157674

NM_000059.4(BRCA2):c.8491A>G (p.Met2831Val)

SNV
Germline

Chr13:32370959

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA6941252

rs_760663398

2 SubmittersRCV000527288 RCV002448668

NM_000059.4(BRCA2):c.8672C>G (p.Thr2891Arg)

SNV
Germline

Chr13:32376709

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 2
Prostate cancer
Fanconi anemia complementation group D1
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA387754747

rs_1401510742

4 SubmittersRCV000550387 RCV000568136 RCV001535782 RCV005357575

NM_000059.4(BRCA2):c.8681A>G (p.Gln2894Arg)

SNV
Germline

Chr13:32376718

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387754773

rs_1172224921

2 SubmittersRCV000528663 RCV002377048

NM_000059.4(BRCA2):c.8953+4A>G

SNV
Germline

Chr13:32379519

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA658656416

rs_1555288412

4 SubmittersRCV000531938 RCV000563019 RCV004592568

NM_000059.4(BRCA2):c.9334G>A (p.Asp3112Asn)

SNV
Germline

Chr13:32394766

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6941377

rs_759851035

4 SubmittersRCV000525864 RCV000580977 RCV001775857

NM_000059.4(BRCA2):c.9401G>C (p.Gly3134Ala)

SNV
Germline

Chr13:32394833

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Familial cancer of breast
Condition: not provided

Criteria Provided
Conflicting Classifications

CA387761371

rs_80359215

6 SubmittersRCV000544353 RCV001180792 RCV003234780 RCV004568792 RCV005630749

NM_000059.4(BRCA2):c.68-6A>T

SNV
Germline

Chr13:32319071

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Breast and/or ovarian cancer

Criteria Provided
Conflicting Classifications

CA658656326

rs_1555280325

5 SubmittersRCV000555474 RCV000583118 RCV001848934 RCV003150264

NM_000059.4(BRCA2):c.414T>A (p.Cys138Ter)

SNV
Germline

Chr13:32325173

Pathogenic/Likely pathogenic

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA387756754

rs_1555280869

5 SubmittersRCV000538469 RCV003234778 RCV003139760 RCV003302810 RCV004017668

NM_000059.4(BRCA2):c.565G>T (p.Asp189Tyr)

SNV
Germline

Chr13:32326547

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA387757943

rs_1555281067

6 SubmittersRCV000531616 RCV000570419 RCV001800752 RCV002465702 RCV005051793

NM_000059.4(BRCA2):c.976A>G (p.Ser326Gly)

SNV
Germline

Chr13:32332454

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387760937

rs_1052441923

2 SubmittersRCV000544927 RCV003157680

NM_000059.4(BRCA2):c.1160T>C (p.Val387Ala)

SNV
Germline

Chr13:32332638

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6940494

rs_373945846

5 SubmittersRCV000530126 RCV000771483 RCV003441925

NM_000059.4(BRCA2):c.1229A>G (p.Lys410Arg)

SNV
Germline

Chr13:32332707

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387762180

rs_1555281782

2 SubmittersRCV000551134 RCV003157635

NM_000059.4(BRCA2):c.1402A>T (p.Arg468Ter)

SNV
Germline

Chr13:32332880

Pathogenic

Hereditary breast ovarian cancer syndrome

Criteria Provided
Single Submitter

CA387764159

rs_1555281894

1 SubmittersRCV000560122

NM_000059.4(BRCA2):c.1990G>T (p.Gly664Trp)

SNV
Germline

Chr13:32336345

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387768650

rs_1346252146

3 SubmittersRCV000537108 RCV003157641

NM_000059.4(BRCA2):c.2072C>T (p.Ala691Val)

SNV
Germline

Chr13:32336427

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA247500536

rs_868546240

5 SubmittersRCV000550266 RCV000574854 RCV001550848

NM_000059.4(BRCA2):c.2285A>G (p.Asp762Gly)

SNV
Germline

Chr13:32336640

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387771169

rs_1555282600

3 SubmittersRCV000529943 RCV002448667

NM_000059.4(BRCA2):c.3200C>G (p.Thr1067Ser)

SNV
Germline

Chr13:32337555

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387775863

rs_1555283092

3 SubmittersRCV000551092 RCV003157654

NM_000059.4(BRCA2):c.3517A>G (p.Ile1173Val)

SNV
Germline

Chr13:32337872

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387777031

rs_431825308

5 SubmittersRCV000540104 RCV000759599 RCV001178550

NM_000059.4(BRCA2):c.3752C>T (p.Thr1251Ile)

SNV
Germline

Chr13:32338107

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387778191

rs_1555283384

2 SubmittersRCV000552237 RCV003157658

NM_000059.4(BRCA2):c.4010A>T (p.Asp1337Val)

SNV
Germline

Chr13:32338365

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387779017

rs_1555283501

2 SubmittersRCV000529722 RCV003157661

NM_000059.4(BRCA2):c.4088A>G (p.Asn1363Ser)

SNV
Germline

Chr13:32338443

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA387779211

rs_1165204072

6 SubmittersRCV000547329 RCV000581950 RCV003999059 RCV004592567

NM_000059.4(BRCA2):c.4165T>G (p.Phe1389Val)

SNV
Germline

Chr13:32338520

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA16020672

rs_1409088355

9 SubmittersRCV000531813 RCV000574569 RCV000759615 RCV001260350 RCV003447540

NM_000059.4(BRCA2):c.4472T>C (p.Leu1491Pro)

SNV
Germline

Chr13:32338827

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387781465

rs_1555283798

4 SubmittersRCV000545774 RCV001805162 RCV002330857

NM_000059.4(BRCA2):c.4584C>G (p.Ser1528Arg)

SNV
Germline

Chr13:32338939

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
not specified

Criteria Provided
Conflicting Classifications

CA6940797

rs_80359788

7 SubmittersRCV000537486 RCV000565812 RCV000662564 RCV002307534

NM_000059.4(BRCA2):c.4601T>C (p.Ile1534Thr)

SNV
Germline

Chr13:32338956

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA387781976

rs_1555283869

5 SubmittersRCV000550868 RCV000581048 RCV002476134

NM_000059.4(BRCA2):c.4802A>T (p.Asp1601Val)

SNV
Germline

Chr13:32339157

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387783260

rs_80358704

3 SubmittersRCV000536692 RCV001023081

NM_000059.4(BRCA2):c.5047C>T (p.Gln1683Ter)

SNV
Germline

Chr13:32339402

Pathogenic

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA387784014

rs_1555284044

5 SubmittersRCV000541691 RCV000581690 RCV003476253

NM_000059.4(BRCA2):c.851G>T (p.Gly284Val)

SNV
Germline

Chr13:32332329

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387760534

rs_1064793865

2 SubmittersRCV000548029 RCV003157677

NM_000059.4(BRCA2):c.5378A>T (p.Asn1793Ile)

SNV
Germline

Chr13:32339733

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387785188

rs_80358759

2 SubmittersRCV000545544 RCV003157671

NM_000059.4(BRCA2):c.978C>T (p.Ser326=)

SNV
Germline

Chr13:32332456

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA483436433

rs_28897706

3 SubmittersRCV000559728 RCV004023892 RCV005000157

NM_000059.4(BRCA2):c.1190A>G (p.Gln397Arg)

SNV
Germline

Chr13:32332668

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387762021

rs_1555281770

2 SubmittersRCV000558698 RCV003157634

NM_000059.4(BRCA2):c.1285T>A (p.Leu429Ile)

SNV
Germline

Chr13:32332763

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387762445

rs_1555281818

2 SubmittersRCV000533427 RCV003157636

NM_000059.4(BRCA2):c.1391T>C (p.Val464Ala)

SNV
Germline

Chr13:32332869

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387764116

rs_1372510250

2 SubmittersRCV000532504 RCV003157637

NM_000059.4(BRCA2):c.6181G>A (p.Ala2061Thr)

SNV
Germline

Chr13:32340536

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
not specified
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA387788393

rs_1555284585

6 SubmittersRCV000529110 RCV000780011 RCV001024975 RCV004800451

NM_000059.4(BRCA2):c.1400A>G (p.Lys467Arg)

SNV
Germline

Chr13:32332878

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast and/or ovarian cancer

Criteria Provided
Conflicting Classifications

CA387764150

rs_1555281893

4 SubmittersRCV000530420 RCV003157638 RCV003150263

NM_000059.4(BRCA2):c.1498G>C (p.Gly500Arg)

SNV
Germline

Chr13:32332976

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA387764477

rs_1233016217

4 SubmittersRCV000549168 RCV002395349 RCV003225082

NM_000059.4(BRCA2):c.6232G>C (p.Gly2078Arg)

SNV
Germline

Chr13:32340587

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387788895

rs_1555284605

3 SubmittersRCV000536621 RCV000570040

NM_000059.4(BRCA2):c.6506C>A (p.Thr2169Asn)

SNV
Germline

Chr13:32340861

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387789564

rs_1555284726

3 SubmittersRCV000559713 RCV003157675

NM_000059.4(BRCA2):c.1504A>G (p.Lys502Glu)

SNV
Germline

Chr13:32332982

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387764497

rs_276174809

3 SubmittersRCV000527560 RCV003157639

NM_000059.4(BRCA2):c.1547T>C (p.Phe516Ser)

SNV
Germline

Chr13:32333025

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387764650

rs_768641298

3 SubmittersRCV000541562 RCV003157640

NM_000059.4(BRCA2):c.1555A>G (p.Ser519Gly)

SNV
Germline

Chr13:32333033

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA387764677

rs_1555281950

5 SubmittersRCV000555286 RCV000580014 RCV001090206

NM_000059.4(BRCA2):c.1597A>G (p.Thr533Ala)

SNV
Germline

Chr13:32333075

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387764821

rs_1555281980

4 SubmittersRCV000554344 RCV001012326

NM_000059.4(BRCA2):c.1645A>G (p.Lys549Glu)

SNV
Germline

Chr13:32333123

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 2
Familial prostate cancer

Criteria Provided
Conflicting Classifications

CA387764979

rs_1555281997

6 SubmittersRCV000532792 RCV000567989 RCV005357572

NM_000059.4(BRCA2):c.1794A>G (p.Thr598=)

SNV
Germline

Chr13:32333272

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
BRCA2-related cancer predisposition
not specified

Criteria Provided
Conflicting Classifications

CA483436870

rs_1159099773

6 SubmittersRCV000546984 RCV000569367 RCV003235279 RCV004802133 RCV006268845

NM_000059.4(BRCA2):c.1888A>G (p.Thr630Ala)

SNV
Germline

Chr13:32333366

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 2
not specified

Criteria Provided
Conflicting Classifications

CA387766739

rs_1335307553

9 SubmittersRCV000526957 RCV000771482 RCV001811040 RCV005357573 RCV006264037

NM_000059.4(BRCA2):c.1939T>G (p.Cys647Gly)

SNV
Germline

Chr13:32336294

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA387768354

rs_1555282367

5 SubmittersRCV000529366 RCV002255441 RCV003478144

NM_000059.4(BRCA2):c.7973A>G (p.Tyr2658Cys)

SNV
Germline

Chr13:32362690

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387747356

rs_1555286875

2 SubmittersRCV000543976 RCV005520300

NM_000059.4(BRCA2):c.8059G>A (p.Val2687Ile)

SNV
Germline

Chr13:32363261

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387749104

rs_80359044

3 SubmittersRCV000539299 RCV001027120

NM_000059.4(BRCA2):c.2522G>C (p.Arg841Thr)

SNV
Germline

Chr13:32336877

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387772469

rs_587781915

3 SubmittersRCV000555152 RCV003157645

NM_000059.4(BRCA2):c.2650T>G (p.Ser884Ala)

SNV
Germline

Chr13:32337005

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387773301

rs_1555282771

3 SubmittersRCV000549818 RCV002456094

NM_000059.4(BRCA2):c.8995C>G (p.Leu2999Val)

SNV
Germline

Chr13:32379791

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387757435

rs_1555288453

2 SubmittersRCV000560838 RCV006362443

NM_000059.4(BRCA2):c.2689G>A (p.Glu897Lys)

SNV
Germline

Chr13:32337044

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA247502815

rs_979372317

3 SubmittersRCV000527929 RCV000777186

NM_000059.4(BRCA2):c.9501+6G>A

SNV
Germline

Chr13:32394939

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA609093425

rs_863224600

2 SubmittersRCV000547095 RCV000580198

NM_000059.4(BRCA2):c.2698A>C (p.Asn900His)

SNV
Germline

Chr13:32337053

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387773485

rs_55736268

4 SubmittersRCV000548310 RCV000568709

NM_000059.4(BRCA2):c.2992G>T (p.Gly998Cys)

SNV
Germline

Chr13:32337347

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387774619

rs_777615894

3 SubmittersRCV000527086 RCV003157650

NM_000059.4(BRCA2):c.9895C>T (p.Gln3299Ter)

SNV
Germline

Chr13:32398408

Pathogenic

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA387766882

rs_1555289997

3 SubmittersRCV000536354 RCV002384090 RCV004696937

NM_000059.4(BRCA2):c.3149C>T (p.Thr1050Ile)

SNV
Germline

Chr13:32337504

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA247504652

rs_1010143466

3 SubmittersRCV000543517 RCV001018811

NM_000059.4(BRCA2):c.3382A>T (p.Thr1128Ser)

SNV
Germline

Chr13:32337737

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387776431

rs_730881523

2 SubmittersRCV000552725 RCV003157655

NM_000059.4(BRCA2):c.3410T>C (p.Leu1137Ser)

SNV
Germline

Chr13:32337765

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387776487

rs_1555283225

2 SubmittersRCV000556877 RCV003157656

NM_000059.4(BRCA2):c.3577G>A (p.Ala1193Thr)

SNV
Germline

Chr13:32337932

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387777366

rs_1555283297

4 SubmittersRCV000539752 RCV001178549

NM_000059.4(BRCA2):c.3586T>A (p.Leu1196Met)

SNV
Germline

Chr13:32337941

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387777406

rs_1449762196

4 SubmittersRCV000554658 RCV001525112

NM_000059.4(BRCA2):c.3644G>A (p.Gly1215Glu)

SNV
Germline

Chr13:32337999

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Ovarian neoplasm
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6940712

rs_773442698

6 SubmittersRCV000556462 RCV000571908 RCV002272282 RCV003478145

NM_000059.4(BRCA2):c.3755C>A (p.Ser1252Tyr)

SNV
Germline

Chr13:32338110

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA387778198

rs_1361496246

6 SubmittersRCV000525829 RCV000777180 RCV001199889 RCV003999056

NM_000059.4(BRCA2):c.3816G>A (p.Met1272Ile)

SNV
Germline

Chr13:32338171

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
not specified
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387778464

rs_1469541725

5 SubmittersRCV000558285 RCV000781112 RCV001284084 RCV002367820

NM_000059.4(BRCA2):c.4072T>G (p.Phe1358Val)

SNV
Germline

Chr13:32338427

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387779153

rs_1555283536

2 SubmittersRCV000537265 RCV003157663

NM_000059.4(BRCA2):c.4120A>C (p.Lys1374Gln)

SNV
Germline

Chr13:32338475

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387779329

rs_864622126

2 SubmittersRCV000550336 RCV003157664

NM_000059.4(BRCA2):c.4567G>C (p.Gly1523Arg)

SNV
Germline

Chr13:32338922

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
BRCA2-related disorder

Criteria Provided
Conflicting Classifications

CA6940793

rs_587781418

8 SubmittersRCV000554873 RCV000779994 RCV001022709 RCV003478146 RCV002528344

NM_000059.4(BRCA2):c.4591A>T (p.Lys1531Ter)

SNV
Germline

Chr13:32338946

Pathogenic/Likely pathogenic

Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA387781936

rs_1555283865

4 SubmittersRCV000557526 RCV000657707 RCV001022751

NM_000059.4(BRCA2):c.4620C>T (p.Asp1540=)

SNV
Germline

Chr13:32338975

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA483438074

rs_1555283875

6 SubmittersRCV000528944 RCV001180550 RCV001356652 RCV002282212

NM_000059.4(BRCA2):c.4655G>A (p.Gly1552Asp)

SNV
Germline

Chr13:32339010

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387782214

rs_80358696

3 SubmittersRCV000527633 RCV001022850

NM_000059.4(BRCA2):c.4696A>G (p.Thr1566Ala)

SNV
Germline

Chr13:32339051

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA387782881

rs_1555283904

6 SubmittersRCV000531715 RCV000581333 RCV003321650 RCV004802135

NM_000059.4(BRCA2):c.5350A>C (p.Asn1784His)

SNV
Germline

Chr13:32339705

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA387785038

rs_1308950771

6 SubmittersRCV000552221 RCV000573254 RCV003999062

NM_000059.4(BRCA2):c.5494T>C (p.Ser1832Pro)

SNV
Germline

Chr13:32339849

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified

Criteria Provided
Conflicting Classifications

CA387785769

rs_1555284247

4 SubmittersRCV000551329 RCV002350226 RCV002268146

NM_000059.4(BRCA2):c.5717A>G (p.Asn1906Ser)

SNV
Germline

Chr13:32340072

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA387786819

rs_1555284372

7 SubmittersRCV000560373 RCV001185973 RCV001764558 RCV003999063

NM_000059.4(BRCA2):c.5938A>C (p.Thr1980Pro)

SNV
Germline

Chr13:32340293

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group D1
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA6940915

rs_55877890

8 SubmittersRCV000531811 RCV000568300 RCV003447541 RCV005639142 RCV003999064

NM_000059.4(BRCA2):c.6106C>G (p.Pro2036Ala)

SNV
Germline

Chr13:32340461

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387788111

rs_587782740

4 SubmittersRCV000541431 RCV001178552

NM_000059.4(BRCA2):c.6677A>G (p.Glu2226Gly)

SNV
Germline

Chr13:32341032

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA387790549

rs_1281267586

4 SubmittersRCV000528701 RCV000569289 RCV002280124

NM_000059.4(BRCA2):c.6847C>A (p.Pro2283Thr)

SNV
Germline

Chr13:32344563

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA387792617

rs_80358909

4 SubmittersRCV000525458 RCV002367825 RCV003478147

NM_000059.4(BRCA2):c.7579G>A (p.Val2527Ile)

SNV
Germline

Chr13:32356571

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387743822

rs_1555286293

2 SubmittersRCV000532571 RCV002395350

NM_000059.4(BRCA2):c.8548G>T (p.Glu2850Ter)

SNV
Germline

Chr13:32371016

Pathogenic

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA387752774

rs_80359110

5 SubmittersRCV000540222 RCV000571409

NM_000059.4(BRCA2):c.8905G>T (p.Val2969Leu)

SNV
Germline

Chr13:32379467

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
not specified
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387757243

rs_59004709

3 SubmittersRCV000536017 RCV003330764 RCV005520301

NM_000059.4(BRCA2):c.8909G>A (p.Trp2970Ter)

SNV
Germline

Chr13:32379471

Pathogenic

Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Multiple Submitters
No Conflicts

CA387757254

rs_1555288397

5 SubmittersRCV000558467 RCV000985610 RCV002289751

NM_000059.4(BRCA2):c.9433G>T (p.Val3145Leu)

SNV
Germline

Chr13:32394865

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387761547

rs_587776476

3 SubmittersRCV000554636 RCV000776684

NM_000059.4(BRCA2):c.9926A>T (p.Glu3309Val)

SNV
Germline

Chr13:32398439

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387767103

rs_1064795880

2 SubmittersRCV000525127 RCV004601200

NM_000059.4(BRCA2):c.10054C>G (p.Leu3352Val)

SNV
Germline

Chr13:32398567

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Familial cancer of breast
Hereditary cancer-predisposing syndrome
not specified

Criteria Provided
Conflicting Classifications

CA387767846

rs_1475702169

4 SubmittersRCV000543513 RCV003607298 RCV001009670 RCV004596243

NM_000059.4(BRCA2):c.10115C>T (p.Ala3372Val)

SNV
Germline

Chr13:32398628

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387768049

rs_748237097

2 SubmittersRCV000549630 RCV006362442

NM_000059.4(BRCA2):c.10127C>G (p.Ser3376Ter)

SNV
Germline

Chr13:32398640

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387768086

rs_1555290049

5 SubmittersRCV000587368 RCV000775705 RCV001479993

NM_000057.4(BLM):c.2293G>A (p.Val765Ile)

SNV
Germline

Chr15:90767009

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Bloom syndrome

Criteria Provided
Conflicting Classifications

CA7738710

rs_191789336

8 SubmittersRCV000526205 RCV000563745 RCV001030454 RCV001082616

NM_000057.4(BLM):c.2839A>G (p.Ile947Val)

SNV
Germline

Chr15:90790664

Conflicting classifications of pathogenicity

Bloom syndrome
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
Condition: not provided
Ovarian cancer

Criteria Provided
Conflicting Classifications

CA7738884

rs_189925962

8 SubmittersRCV000541196 RCV001016575 RCV001030457 RCV001194357 RCV003478099 RCV003153670

NM_007294.4(BRCA1):c.5277+1G>T

SNV
Germline

Chr17:43057051

Pathogenic

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA10590997

rs_80358150

3 SubmittersRCV000545164 RCV001072608 RCV002350229

NM_007294.4(BRCA1):c.4185+5A>G

SNV
Germline

Chr17:43090939

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA059589

rs_766330646

3 SubmittersRCV000554825 RCV000759532

NM_007294.4(BRCA1):c.3988A>T (p.Ser1330Cys)

SNV
Germline

Chr17:43091543

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10593986

rs_1555586688

5 SubmittersRCV000525249 RCV001021587 RCV003999074 RCV003478150

NM_007294.4(BRCA1):c.3836C>T (p.Ala1279Val)

SNV
Germline

Chr17:43091695

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified

Criteria Provided
Conflicting Classifications

CA10594292

rs_1555586967

5 SubmittersRCV000558014 RCV002367829 RCV004586772

NM_007294.4(BRCA1):c.3620A>T (p.Lys1207Met)

SNV
Germline

Chr17:43091911

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10594729

rs_1555587402

5 SubmittersRCV000535503 RCV001357923 RCV003157704

NM_007294.4(BRCA1):c.3129T>C (p.Asn1043=)

SNV
Germline

Chr17:43092402

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
BRCA1-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA500232259

rs_1555588339

5 SubmittersRCV000548170 RCV001185479 RCV001799677 RCV004802139

NM_007294.4(BRCA1):c.2555T>C (p.Leu852Pro)

SNV
Germline

Chr17:43092976

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10596881

rs_1555589415

4 SubmittersRCV000532375 RCV000560938

NM_007294.4(BRCA1):c.2405T>G (p.Val802Gly)

SNV
Germline

Chr17:43093126

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10597197

rs_1555589737

2 SubmittersRCV000560561 RCV003157695

NM_007294.4(BRCA1):c.2239C>T (p.Pro747Ser)

SNV
Germline

Chr17:43093292

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10597520

rs_1555590087

6 SubmittersRCV000552520 RCV000663173 RCV000777227 RCV004808755

NM_007294.4(BRCA1):c.1814C>A (p.Ala605Glu)

SNV
Germline

Chr17:43093717

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10598389

rs_1555591195

2 SubmittersRCV000556281 RCV003157689

NM_007294.4(BRCA1):c.1711A>G (p.Ile571Val)

SNV
Germline

Chr17:43093820

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
not specified
Hereditary cancer-predisposing syndrome
Fanconi anemia, complementation group S

Criteria Provided
Conflicting Classifications

CA10598605

rs_1310719199

6 SubmittersRCV000554416 RCV001193800 RCV002404415 RCV005357577

NM_007294.4(BRCA1):c.1478T>C (p.Ile493Thr)

SNV
Germline

Chr17:43094053

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10599091

rs_1555591707

3 SubmittersRCV000527385 RCV000777183

NM_007294.4(BRCA1):c.547+1G>C

SNV
Germline

Chr17:43099774

Pathogenic/Likely pathogenic

Hereditary breast ovarian cancer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA10601039

rs_80358030

2 SubmittersRCV000545283

NM_002878.4(RAD51D):c.667+9T>C

SNV
Germline

Chr17:35103445

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 4
Hereditary cancer-predisposing syndrome
Breast and/or ovarian cancer
Hereditary breast ovarian cancer syndrome
not specified

Criteria Provided
Conflicting Classifications

CA8499395

rs_772193051

6 SubmittersRCV000533824 RCV000583211 RCV003492096 RCV003482149 RCV006273884

NM_007294.4(BRCA1):c.5339T>A (p.Leu1780Gln)

SNV
Germline

Chr17:43049188

Likely pathogenic

Hereditary breast ovarian cancer syndrome

Criteria Provided
Single Submitter

CA10590784

rs_80357474

1 SubmittersRCV000548095

NM_007294.4(BRCA1):c.5315T>G (p.Phe1772Cys)

SNV
Germline

Chr17:43051080

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10590920

rs_1555575700

4 SubmittersRCV000529363 RCV001072688 RCV004948410

NM_007294.4(BRCA1):c.5260G>C (p.Glu1754Gln)

SNV
Germline

Chr17:43057069

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA054279

rs_80357432

9 SubmittersRCV000552413 RCV000663140 RCV000776460 RCV003238765

NM_007294.4(BRCA1):c.4048G>C (p.Gly1350Arg)

SNV
Germline

Chr17:43091483

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10593865

rs_748674194

2 SubmittersRCV000556547 RCV003157707

NM_007294.4(BRCA1):c.3269A>G (p.Gln1090Arg)

SNV
Germline

Chr17:43092262

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Condition: not provided
not specified
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10595450

rs_1555588045

5 SubmittersRCV000543817 RCV001764559 RCV002231374 RCV003157701

NM_007294.4(BRCA1):c.3173T>G (p.Ile1058Ser)

SNV
Germline

Chr17:43092358

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10595640

rs_1555588264

3 SubmittersRCV000529649 RCV003157700

NM_007294.4(BRCA1):c.2849C>T (p.Ser950Phe)

SNV
Germline

Chr17:43092682

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10596289

rs_1555588847

5 SubmittersRCV000542549 RCV000777275 RCV003478149

NM_007294.4(BRCA1):c.2548A>C (p.Ser850Arg)

SNV
Germline

Chr17:43092983

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10596898

rs_1555589429

2 SubmittersRCV000527058 RCV003157697

NM_007294.4(BRCA1):c.2528C>G (p.Thr843Arg)

SNV
Germline

Chr17:43093003

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10596942

rs_1555589466

3 SubmittersRCV000555456 RCV000565654

NM_007294.4(BRCA1):c.1981A>G (p.Arg661Gly)

SNV
Germline

Chr17:43093550

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10598055

rs_1555590724

3 SubmittersRCV000540469 RCV001013944

NM_007294.4(BRCA1):c.1675G>A (p.Gly559Ser)

SNV
Germline

Chr17:43093856

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA10598683

rs_1555591384

5 SubmittersRCV000528590 RCV000777272 RCV003493633

NM_007294.4(BRCA1):c.1205A>T (p.Glu402Val)

SNV
Germline

Chr17:43094326

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10599640

rs_1555592216

2 SubmittersRCV000547374 RCV003157683

NM_007294.4(BRCA1):c.1114T>A (p.Trp372Arg)

SNV
Germline

Chr17:43094417

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified

Criteria Provided
Conflicting Classifications

CA10599830

rs_1306111238

3 SubmittersRCV000544647 RCV003157681 RCV006452722

NM_007294.4(BRCA1):c.97G>T (p.Glu33Ter)

SNV
Germline

Chr17:43115763

Pathogenic

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA10601958

rs_80357066

3 SubmittersRCV000532011 RCV001076971 RCV002384092

NM_002878.4(RAD51D):c.904-2A>T

SNV
Germline

Chr17:35101038

Pathogenic/Likely pathogenic

Breast-ovarian cancer, familial, susceptibility to, 4
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Hereditary site-specific ovarian cancer syndrome
Gastric cancer
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA399086196

rs_1403784434

9 SubmittersRCV000540056 RCV000562807 RCV001030588 RCV001171472 RCV003159903 RCV005000199

NM_007294.4(BRCA1):c.4150G>A (p.Gly1384Arg)

SNV
Germline

Chr17:43090979

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10593422

rs_1555586146

2 SubmittersRCV000528015 RCV004601201

NM_007294.4(BRCA1):c.4049G>T (p.Gly1350Val)

SNV
Germline

Chr17:43091482

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10593862

rs_1433564897

2 SubmittersRCV000532340 RCV003157708

NM_007294.4(BRCA1):c.4045A>G (p.Thr1349Ala)

SNV
Germline

Chr17:43091486

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA10593870

rs_80357231

4 SubmittersRCV000531377 RCV001021742 RCV003999075

NM_007294.4(BRCA1):c.3673T>G (p.Cys1225Gly)

SNV
Germline

Chr17:43091858

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10594622

rs_1382025345

2 SubmittersRCV000549825 RCV003157706

NM_007294.4(BRCA1):c.3595G>T (p.Ala1199Ser)

SNV
Germline

Chr17:43091936

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10594772

rs_1555587437

3 SubmittersRCV000546772 RCV003157703

NM_007294.4(BRCA1):c.3409A>G (p.Met1137Val)

SNV
Germline

Chr17:43092122

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 1
Familial pancreatic carcinoma

Criteria Provided
Conflicting Classifications

CA057871

rs_771479616

9 SubmittersRCV000527157 RCV000568958 RCV000587353 RCV003999073 RCV005357578

NM_007294.4(BRCA1):c.3119G>C (p.Ser1040Thr)

SNV
Germline

Chr17:43092412

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10595747

rs_4986852

3 SubmittersRCV000540088 RCV000989891 RCV003157699

NM_007294.4(BRCA1):c.2501G>A (p.Gly834Glu)

SNV
Germline

Chr17:43093030

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA058509

rs_757383244

7 SubmittersRCV000537494 RCV000582678 RCV000585609 RCV006633924

NM_007294.4(BRCA1):c.2253G>C (p.Met751Ile)

SNV
Germline

Chr17:43093278

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10597494

rs_1555590040

2 SubmittersRCV000540973 RCV003157693

NM_007294.4(BRCA1):c.2165T>C (p.Val722Ala)

SNV
Germline

Chr17:43093366

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10597672

rs_1555590311

2 SubmittersRCV000549694 RCV003157692

NM_058216.3(RAD51C):c.104C>G (p.Ala35Gly)

SNV
Germline

Chr17:58692747

Conflicting classifications of pathogenicity

Fanconi anemia complementation group O
Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 3
Fanconi anemia complementation group O

Criteria Provided
Conflicting Classifications

CA400337384

rs_1555592011

5 SubmittersRCV000537594 RCV001030584 RCV001574944 RCV002404514 RCV005018957

NM_007294.4(BRCA1):c.1243G>T (p.Val415Phe)

SNV
Germline

Chr17:43094288

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10599565

rs_587782770

3 SubmittersRCV000533425 RCV003157685

NM_007294.4(BRCA1):c.1241A>C (p.Asp414Ala)

SNV
Germline

Chr17:43094290

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10599571

rs_1555592086

2 SubmittersRCV000552874 RCV003157684

NM_007294.4(BRCA1):c.1175T>C (p.Leu392Pro)

SNV
Germline

Chr17:43094356

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10599700

rs_777305766

3 SubmittersRCV000526978 RCV001540352 RCV003157682

NM_007294.4(BRCA1):c.898G>A (p.Glu300Lys)

SNV
Germline

Chr17:43094633

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10600280

rs_886040330

6 SubmittersRCV000538617 RCV000561572 RCV003999077 RCV005865337

NM_007294.4(BRCA1):c.767G>A (p.Arg256Lys)

SNV
Germline

Chr17:43094764

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
not specified

Criteria Provided
Conflicting Classifications

CA10600551

rs_11658785

7 SubmittersRCV000529920 RCV002286753 RCV002404416 RCV003483663 RCV006268846

NM_007294.4(BRCA1):c.654G>A (p.Leu218=)

SNV
Germline

Chr17:43095862

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA500124015

rs_1555593548

3 SubmittersRCV000550213 RCV002367830

NM_058216.3(RAD51C):c.904G>A (p.Gly302Arg)

SNV
Germline

Chr17:58720812

Conflicting classifications of pathogenicity

Fanconi anemia complementation group O
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 3

Criteria Provided
Conflicting Classifications

CA400359832

rs_1555602158

5 SubmittersRCV000553972 RCV000564740 RCV000709517 RCV005248215

NM_007294.4(BRCA1):c.286G>C (p.Asp96His)

SNV
Germline

Chr17:43104883

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10601582

rs_80357110

5 SubmittersRCV000531019 RCV001077804 RCV001770425 RCV002438341

NM_007294.4(BRCA1):c.5575C>T (p.Pro1859Ser)

SNV
Germline

Chr17:43045695

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
not specified
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA10590175

rs_1555574342

4 SubmittersRCV000530109 RCV000779880 RCV002350231 RCV004592569

NM_007294.4(BRCA1):c.5167A>G (p.Ile1723Val)

SNV
Germline

Chr17:43063359

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10591212

rs_1426821558

5 SubmittersRCV000536072 RCV001072422 RCV001724041 RCV002341301

NM_007294.4(BRCA1):c.4046C>G (p.Thr1349Arg)

SNV
Germline

Chr17:43091485

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Breast-ovarian cancer, familial, susceptibility to, 1
Familial cancer of breast
Fanconi anemia, complementation group S
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA10593867

rs_80357345

9 SubmittersRCV000544160 RCV000565791 RCV001284396 RCV001821530 RCV005357579 RCV006633925

NM_007294.4(BRCA1):c.3666G>C (p.Glu1222Asp)

SNV
Germline

Chr17:43091865

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA10594638

rs_1555587312

7 SubmittersRCV000548913 RCV000567011 RCV000755852 RCV003321654

NM_007294.4(BRCA1):c.3392A>G (p.Asp1131Gly)

SNV
Germline

Chr17:43092139

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
not specified
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10595193

rs_1555587813

6 SubmittersRCV000534135 RCV001770426 RCV002469189 RCV003157702

NM_007294.4(BRCA1):c.3027A>C (p.Ser1009=)

SNV
Germline

Chr17:43092504

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
not specified

Criteria Provided
Conflicting Classifications

CA500232353

rs_1555588512

4 SubmittersRCV000558515 RCV001090202 RCV004948409 RCV005435003

NM_007294.4(BRCA1):c.3005A>T (p.Asn1002Ile)

SNV
Germline

Chr17:43092526

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10595987

rs_1555588553

2 SubmittersRCV000532861 RCV003157698

NM_007294.4(BRCA1):c.2815G>A (p.Val939Ile)

SNV
Germline

Chr17:43092716

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
BRCA1-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA10596363

rs_1555588896

6 SubmittersRCV000549570 RCV001284539 RCV002438340 RCV004802138

NM_007294.4(BRCA1):c.2417C>T (p.Ala806Val)

SNV
Germline

Chr17:43093114

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10597172

rs_1555589705

3 SubmittersRCV000536745 RCV000985387 RCV003157696

NM_007294.4(BRCA1):c.2320G>T (p.Gly774Cys)

SNV
Germline

Chr17:43093211

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10597362

rs_1555589917

3 SubmittersRCV000547226 RCV003157694

NM_007294.4(BRCA1):c.2033C>T (p.Ala678Val)

SNV
Germline

Chr17:43093498

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10597942

rs_1555590634

2 SubmittersRCV000529874 RCV003157691

NM_007294.4(BRCA1):c.1949T>C (p.Ile650Thr)

SNV
Germline

Chr17:43093582

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10598124

rs_1555590816

2 SubmittersRCV000547574 RCV003157690

NM_007294.4(BRCA1):c.1807T>G (p.Ser603Ala)

SNV
Germline

Chr17:43093724

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10598402

rs_1555591208

2 SubmittersRCV000539297 RCV003157688

NM_007294.4(BRCA1):c.1558A>C (p.Lys520Gln)

SNV
Germline

Chr17:43093973

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10598930

rs_1555591572

2 SubmittersRCV000534658 RCV003157686

NM_007294.4(BRCA1):c.1061A>T (p.Asn354Ile)

SNV
Germline

Chr17:43094470

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified

Criteria Provided
Conflicting Classifications

CA10599935

rs_1555592577

4 SubmittersRCV000553065 RCV001009817 RCV003226321

NM_007294.4(BRCA1):c.587A>T (p.Tyr196Phe)

SNV
Germline

Chr17:43097250

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified
BRCA1-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA10600947

rs_1555594039

5 SubmittersRCV000542879 RCV000563640 RCV000779856 RCV004802141

NM_007294.4(BRCA1):c.191G>C (p.Cys64Ser)

SNV
Germline

Chr17:43106477

Pathogenic/Likely pathogenic

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA10601786

rs_55851803

3 SubmittersRCV000559047 RCV001076723 RCV005306071

NM_058216.3(RAD51C):c.1051G>A (p.Val351Ile)

SNV
Germline

Chr17:58734142

Conflicting classifications of pathogenicity

Fanconi anemia complementation group O
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA400366049

rs_1160208500

4 SubmittersRCV000547645 RCV000562130 RCV005357602

NM_032043.3(BRIP1):c.1628+5G>A

SNV
Germline

Chr17:61784265

Pathogenic/Likely pathogenic

Familial cancer of breast
Fanconi anemia complementation group J
Hereditary cancer-predisposing syndrome
Condition: not provided
Fanconi anemia complementation group J
Familial cancer of breast
Hereditary breast ovarian cancer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA8690711

rs_754929230

9 SubmittersRCV000557392 RCV000572734 RCV000586595 RCV003144327 RCV003459210 RCV005056141

NM_007194.4(CHEK2):c.1096-1G>C

SNV
Germline

Chr22:28695874

Likely pathogenic

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA411097245

rs_1060502716

4 SubmittersRCV000541307 RCV000565718 RCV001280574

NM_000465.4(BARD1):c.1345C>T (p.Gln449Ter)

SNV
Germline

Chr2:214769282

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Gastric cancer
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA350450413

rs_1553619721

5 SubmittersRCV000562658 RCV001030609 RCV003159956 RCV003335479

NM_000465.4(BARD1):c.1314+1G>A

SNV
Germline

Chr2:214780559

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
BARD1-related cancer predisposition
Hereditary breast ovarian cancer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA2090307

rs_753785671

9 SubmittersRCV000566497 RCV000635897 RCV003488698 RCV005600984 RCV005056193

NM_000179.3(MSH6):c.2885T>C (p.Ile962Thr)

SNV
Germline

Chr2:47800868

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Malignant tumor of breast
Hereditary breast ovarian cancer syndrome
Condition: not provided
Lynch syndrome
Endometrial carcinoma
Lynch syndrome 5
Mismatch repair cancer syndrome 3

Criteria Provided
Conflicting Classifications

CA069760

rs_778287080

9 SubmittersRCV000561841 RCV000629885 RCV001355686 RCV001374579 RCV001764641 RCV004000884 RCV005034127

NM_000249.4(MLH1):c.305A>C (p.Glu102Ala)

SNV
Germline

Chr3:37001052

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA352036687

rs_1553640334

2 SubmittersRCV000565793 RCV005411493

NM_005732.4(RAD50):c.552-1G>A

SNV
Germline

Chr5:132579861

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Nijmegen breakage syndrome-like disorder
Hereditary breast ovarian cancer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA360935342

rs_1236278956

6 SubmittersRCV000570029 RCV001783075 RCV002271531

NM_000059.4(BRCA2):c.256C>T (p.Leu86=)

SNV
Germline

Chr13:32319265

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA483436136

rs_1555280404

3 SubmittersRCV000570115 RCV002476213 RCV002527979

NM_000059.4(BRCA2):c.68-5A>G

SNV
Germline

Chr13:32319072

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA658656327

rs_1555280326

4 SubmittersRCV000561594 RCV001243342 RCV004569147 RCV005869628

NM_000059.4(BRCA2):c.81A>G (p.Ile27Met)

SNV
Germline

Chr13:32319090

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified

Criteria Provided
Conflicting Classifications

CA387754061

rs_1555280333

3 SubmittersRCV000562416 RCV000637691 RCV004586801

NM_000059.4(BRCA2):c.182T>C (p.Leu61Pro)

SNV
Germline

Chr13:32319191

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387754349

rs_1555280374

3 SubmittersRCV000561382 RCV000804882

NM_000059.4(BRCA2):c.1277A>C (p.Lys426Thr)

SNV
Germline

Chr13:32332755

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387762411

rs_1421854019

8 SubmittersRCV000568483 RCV000588909 RCV000637322

NM_000059.4(BRCA2):c.1550A>T (p.Asn517Ile)

SNV
Germline

Chr13:32333028

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387764662

rs_80358439

3 SubmittersRCV000573079 RCV001237084

NM_000059.4(BRCA2):c.1807A>G (p.Lys603Glu)

SNV
Germline

Chr13:32333285

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387765926

rs_1555282089

3 SubmittersRCV000571043 RCV001224437

NM_000059.4(BRCA2):c.2044A>G (p.Ile682Val)

SNV
Germline

Chr13:32336399

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387768937

rs_398122738

3 SubmittersRCV000560974 RCV001367308

NM_000059.4(BRCA2):c.2276T>C (p.Leu759Pro)

SNV
Germline

Chr13:32336631

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387771110

rs_1555282592

5 SubmittersRCV000568499 RCV000985473 RCV001209821

NM_000059.4(BRCA2):c.2282A>G (p.Tyr761Cys)

SNV
Germline

Chr13:32336637

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA387771143

rs_879255443

7 SubmittersRCV000566368 RCV000815303 RCV001800775 RCV003493654

NM_000059.4(BRCA2):c.793G>A (p.Gly265Arg)

SNV
Germline

Chr13:32331030

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA387760269

rs_1403242422

6 SubmittersRCV000568539 RCV000679189 RCV001232619 RCV003476318

NM_000059.4(BRCA2):c.2348T>C (p.Val783Ala)

SNV
Germline

Chr13:32336703

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6940597

rs_768143929

6 SubmittersRCV000564881 RCV000696795 RCV003999529 RCV004721446

NM_000059.4(BRCA2):c.2453A>G (p.Asn818Ser)

SNV
Germline

Chr13:32336808

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387772289

rs_1555282681

3 SubmittersRCV000567852 RCV005091343

NM_000059.4(BRCA2):c.812G>A (p.Gly271Glu)

SNV
Germline

Chr13:32332290

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA387760394

rs_1247032180

7 SubmittersRCV000566757 RCV000706930 RCV001779011 RCV004000927 RCV006260283

NM_000059.4(BRCA2):c.2461G>A (p.Val821Ile)

SNV
Germline

Chr13:32336816

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA6940607

rs_756411508

8 SubmittersRCV000564932 RCV000590888 RCV001354575 RCV006268867

NM_000059.4(BRCA2):c.2596G>A (p.Glu866Lys)

SNV
Germline

Chr13:32336951

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Fanconi anemia complementation group D1
Hereditary breast ovarian cancer syndrome
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA387772620

rs_864622476

5 SubmittersRCV000570600 RCV001109532 RCV001109533 RCV001867857 RCV004802211

NM_000059.4(BRCA2):c.842A>G (p.Asp281Gly)

SNV
Germline

Chr13:32332320

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA387760501

rs_1555281610

4 SubmittersRCV000561981 RCV001858184 RCV003476329

NM_000059.4(BRCA2):c.847A>T (p.Ile283Phe)

SNV
Germline

Chr13:32332325

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387760520

rs_80359097

3 SubmittersRCV000572027 RCV005091370

NM_000059.4(BRCA2):c.995T>A (p.Ile332Asn)

SNV
Germline

Chr13:32332473

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA387761017

rs_1555281682

5 SubmittersRCV000814918 RCV000563072 RCV004592648

NM_000059.4(BRCA2):c.1134T>A (p.Ser378Arg)

SNV
Germline

Chr13:32332612

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA387761753

rs_1555281748

5 SubmittersRCV000565338 RCV001042138 RCV001800784

NM_000059.4(BRCA2):c.2804A>G (p.Asp935Gly)

SNV
Germline

Chr13:32337159

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387773751

rs_1555282864

3 SubmittersRCV000566429 RCV002530250

NM_000059.4(BRCA2):c.1262A>G (p.Gln421Arg)

SNV
Germline

Chr13:32332740

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
BRCA2-related disorder

Criteria Provided
Conflicting Classifications

CA387762331

rs_1555281798

4 SubmittersRCV000572339 RCV001297331 RCV004732945

NM_000059.4(BRCA2):c.1457A>C (p.Gln486Pro)

SNV
Germline

Chr13:32332935

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387764356

rs_757735681

3 SubmittersRCV000564559 RCV000799407

NM_000059.4(BRCA2):c.1509G>C (p.Lys503Asn)

SNV
Germline

Chr13:32332987

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387764517

rs_1555281928

3 SubmittersRCV000566446 RCV003645050

NM_000059.4(BRCA2):c.1510T>A (p.Ser504Thr)

SNV
Germline

Chr13:32332988

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387764521

rs_786203006

3 SubmittersRCV000564138 RCV000793608

NM_000059.4(BRCA2):c.2812G>A (p.Ala938Thr)

SNV
Germline

Chr13:32337167

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA6940631

rs_768556548

5 SubmittersRCV000574545 RCV001219024 RCV002461367 RCV005251150

NM_000059.4(BRCA2):c.2821G>C (p.Val941Leu)

SNV
Germline

Chr13:32337176

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387773793

rs_863224586

3 SubmittersRCV000568314 RCV001858085

NM_000059.4(BRCA2):c.3064C>T (p.His1022Tyr)

SNV
Germline

Chr13:32337419

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
BRCA2-related cancer predisposition
Breast-ovarian cancer, familial, susceptibility to, 2
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA6940658

rs_765882871

6 SubmittersRCV000568287 RCV001223508 RCV004802231 RCV005357680

NM_000059.4(BRCA2):c.3084A>C (p.Lys1028Asn)

SNV
Germline

Chr13:32337439

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified

Criteria Provided
Conflicting Classifications

CA387775232

rs_1555283043

4 SubmittersRCV000561379 RCV001203943 RCV005231098

NM_000059.4(BRCA2):c.3128C>G (p.Ala1043Gly)

SNV
Germline

Chr13:32337483

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA387775722

rs_1555283059

4 SubmittersRCV000573287 RCV000684881 RCV004000935

NM_000059.4(BRCA2):c.1940G>A (p.Cys647Tyr)

SNV
Germline

Chr13:32336295

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387768359

rs_1555282368

5 SubmittersRCV000575462 RCV000759583 RCV000814757

NM_000059.4(BRCA2):c.2030C>T (p.Ser677Phe)

SNV
Germline

Chr13:32336385

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387768877

rs_1555282410

3 SubmittersRCV000568117 RCV006629166

NM_000059.4(BRCA2):c.3385C>T (p.Gln1129Ter)

SNV
Germline

Chr13:32337740

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA387776436

rs_1555283209

6 SubmittersRCV000573112 RCV000657682 RCV000587755

NM_000059.4(BRCA2):c.3398C>T (p.Pro1133Leu)

SNV
Germline

Chr13:32337753

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387776467

rs_1170876773

3 SubmittersRCV000565144 RCV001858185

NM_000059.4(BRCA2):c.3426T>A (p.Phe1142Leu)

SNV
Germline

Chr13:32337781

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387776543

rs_760681272

3 SubmittersRCV000568806 RCV005056209

NM_000059.4(BRCA2):c.3521G>A (p.Gly1174Asp)

SNV
Germline

Chr13:32337876

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA387777051

rs_1555283272

4 SubmittersRCV000561139 RCV000637583 RCV003607303

NM_000059.4(BRCA2):c.2215C>G (p.His739Asp)

SNV
Germline

Chr13:32336570

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387770616

rs_1555282536

3 SubmittersRCV000565578 RCV003530079

NM_000059.4(BRCA2):c.3664G>T (p.Ala1222Ser)

SNV
Germline

Chr13:32338019

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387777981

rs_1555283343

5 SubmittersRCV000572943 RCV001283922 RCV001361301

NM_000059.4(BRCA2):c.3788G>A (p.Ser1263Asn)

SNV
Germline

Chr13:32338143

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387778357

rs_1555283398

3 SubmittersRCV000566753 RCV000701605

NM_000059.4(BRCA2):c.2240A>C (p.Glu747Ala)

SNV
Germline

Chr13:32336595

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387770814

rs_397507283

3 SubmittersRCV000572016 RCV002527977

NM_000059.4(BRCA2):c.3832C>A (p.His1278Asn)

SNV
Germline

Chr13:32338187

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA387778536

rs_1555283417

4 SubmittersRCV000568189 RCV000803223 RCV005000277

NM_000059.4(BRCA2):c.3905C>T (p.Thr1302Ile)

SNV
Germline

Chr13:32338260

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA247506143

rs_80358634

5 SubmittersRCV000573175 RCV000637448 RCV003478202

NM_000059.4(BRCA2):c.4150T>A (p.Leu1384Met)

SNV
Germline

Chr13:32338505

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA6940755

rs_779408742

4 SubmittersRCV000572775 RCV000637416

NM_000059.4(BRCA2):c.4253T>C (p.Ile1418Thr)

SNV
Germline

Chr13:32338608

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA6940764

rs_754119978

4 SubmittersRCV000573134 RCV002530304

NM_000059.4(BRCA2):c.2396A>G (p.Lys799Arg)

SNV
Germline

Chr13:32336751

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Breast and/or ovarian cancer
Hereditary breast ovarian cancer syndrome
Condition: not provided
not specified
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA387771943

rs_1555282656

9 SubmittersRCV000571372 RCV000769685 RCV000802457 RCV002476223 RCV005231090 RCV005357669

NM_000059.4(BRCA2):c.2447A>G (p.Glu816Gly)

SNV
Germline

Chr13:32336802

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387772261

rs_1555282673

3 SubmittersRCV000562111 RCV003645052

NM_000059.4(BRCA2):c.4652A>G (p.Gln1551Arg)

SNV
Germline

Chr13:32339007

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA387782194

rs_1391223943

6 SubmittersRCV000566456 RCV001221970 RCV003451240

NM_000059.4(BRCA2):c.2456A>G (p.Gln819Arg)

SNV
Germline

Chr13:32336811

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387772305

rs_1555282683

3 SubmittersRCV000561854 RCV001858186

NM_000059.4(BRCA2):c.4808A>T (p.Asn1603Ile)

SNV
Germline

Chr13:32339163

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA247508443

rs_890665355

6 SubmittersRCV000563820 RCV000709312 RCV000989032 RCV001283926

NM_000059.4(BRCA2):c.4987G>A (p.Val1663Ile)

SNV
Germline

Chr13:32339342

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
not specified

Criteria Provided
Conflicting Classifications

CA387783882

rs_587781763

6 SubmittersRCV000574969 RCV000704315 RCV003234781 RCV003323619

NM_000059.4(BRCA2):c.2793A>C (p.Gly931=)

SNV
Germline

Chr13:32337148

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA483437420

rs_786201315

5 SubmittersRCV000565459 RCV000586053 RCV000920539

NM_000059.4(BRCA2):c.5579A>G (p.Lys1860Arg)

SNV
Germline

Chr13:32339934

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA387786012

rs_1555284280

5 SubmittersRCV000571620 RCV002307546 RCV002526774 RCV005620974

NM_000059.4(BRCA2):c.2953A>G (p.Lys985Glu)

SNV
Germline

Chr13:32337308

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA387774387

rs_1555282970

4 SubmittersRCV000566817 RCV003645028 RCV005000236

NM_000059.4(BRCA2):c.5609T>G (p.Phe1870Cys)

SNV
Germline

Chr13:32339964

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA387786080

rs_1135401908

4 SubmittersRCV000562493 RCV001858084 RCV005000235

NM_000059.4(BRCA2):c.5886A>G (p.Ile1962Met)

SNV
Germline

Chr13:32340241

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA247511881

rs_987442188

3 SubmittersRCV000563919 RCV005091335

NM_000059.4(BRCA2):c.3012T>G (p.Ser1004Arg)

SNV
Germline

Chr13:32337367

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387774760

rs_1555283009

4 SubmittersRCV000571330 RCV001312879

NM_000059.4(BRCA2):c.6088A>G (p.Asn2030Asp)

SNV
Germline

Chr13:32340443

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA387788047

rs_1555284539

5 SubmittersRCV000574021 RCV000696990 RCV003226326 RCV005000278

NM_000059.4(BRCA2):c.6094G>T (p.Ala2032Ser)

SNV
Germline

Chr13:32340449

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387788071

rs_786203284

3 SubmittersRCV000565512 RCV002530334

NM_000059.4(BRCA2):c.6158C>A (p.Ser2053Tyr)

SNV
Germline

Chr13:32340513

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387788311

rs_1555284574

5 SubmittersRCV000564414 RCV000759633 RCV001858080

NM_000059.4(BRCA2):c.6170G>A (p.Gly2057Glu)

SNV
Germline

Chr13:32340525

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA387788356

rs_876660308

5 SubmittersRCV000568900 RCV002528119 RCV004001020

NM_000059.4(BRCA2):c.3180C>G (p.Ser1060Arg)

SNV
Germline

Chr13:32337535

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387775826

rs_786203536

3 SubmittersRCV000568485 RCV001211903

NM_000059.4(BRCA2):c.6623A>G (p.Asn2208Ser)

SNV
Germline

Chr13:32340978

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
BRCA2-related cancer predisposition
not specified

Criteria Provided
Conflicting Classifications

CA6940971

rs_767110818

6 SubmittersRCV000563501 RCV001066486 RCV004802234 RCV006458634

NM_000059.4(BRCA2):c.3387G>T (p.Gln1129His)

SNV
Germline

Chr13:32337742

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
BRCA2-related cancer predisposition
Condition: not provided

Criteria Provided
Conflicting Classifications

CA387776441

rs_1555283211

6 SubmittersRCV000569133 RCV001372772 RCV004802227 RCV005603639

NM_000059.4(BRCA2):c.6778G>A (p.Glu2260Lys)

SNV
Germline

Chr13:32341133

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
BRCA2-related cancer predisposition
not specified

Criteria Provided
Conflicting Classifications

CA387791252

rs_1555284853

5 SubmittersRCV000573696 RCV001248161 RCV004802192 RCV006458626

NM_000059.4(BRCA2):c.6827C>A (p.Pro2276His)

SNV
Germline

Chr13:32341182

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA6940989

rs_748541466

8 SubmittersRCV000566942 RCV001526954 RCV001550563 RCV001858154 RCV004000912

NM_000059.4(BRCA2):c.6829C>G (p.Leu2277Val)

SNV
Germline

Chr13:32341184

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387791471

rs_786202214

4 SubmittersRCV000575181 RCV000758939 RCV005091296

NM_000059.4(BRCA2):c.3706A>G (p.Lys1236Glu)

SNV
Germline

Chr13:32338061

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387778057

rs_1555283367

4 SubmittersRCV000564778 RCV001853764

NM_000059.4(BRCA2):c.3808G>T (p.Val1270Phe)

SNV
Germline

Chr13:32338163

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387778441

rs_876658938

3 SubmittersRCV000563060 RCV002528117

NM_000059.4(BRCA2):c.3822G>A (p.Lys1274=)

SNV
Germline

Chr13:32338177

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Condition: not provided
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA483437963

rs_1555283410

7 SubmittersRCV000563441 RCV000590381 RCV001333164 RCV001402026 RCV001565197 RCV005235431

NM_000059.4(BRCA2):c.4280T>A (p.Phe1427Tyr)

SNV
Germline

Chr13:32338635

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387780608

rs_886463005

3 SubmittersRCV000574875 RCV001345552

NM_000059.4(BRCA2):c.91T>G (p.Trp31Gly)

SNV
Germline

Chr13:32319100

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Malignant tumor of breast
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA387754107

rs_80359182

8 SubmittersRCV000568041 RCV000759687 RCV001215898 RCV003330801 RCV004000929

NM_000059.4(BRCA2):c.332A>G (p.Asn111Ser)

SNV
Germline

Chr13:32325091

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387756537

rs_1555280840

2 SubmittersRCV000569068 RCV001867858

NM_000059.4(BRCA2):c.4649A>C (p.Glu1550Ala)

SNV
Germline

Chr13:32339004

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387782183

rs_876660887

3 SubmittersRCV000568464 RCV001858265

NM_000059.4(BRCA2):c.4915G>C (p.Val1639Leu)

SNV
Germline

Chr13:32339270

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387783602

rs_80358716

3 SubmittersRCV000573642 RCV005091344

NM_000059.4(BRCA2):c.5039C>A (p.Ser1680Tyr)

SNV
Germline

Chr13:32339394

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Thyroid cancer, nonmedullary, 1

Criteria Provided
Conflicting Classifications

CA387783999

rs_1555284041

6 SubmittersRCV000589794 RCV000574179 RCV003767095 RCV005898496

NM_000059.4(BRCA2):c.7403T>A (p.Val2468Glu)

SNV
Germline

Chr13:32355256

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387741846

rs_1237865460

3 SubmittersRCV000566282 RCV002526776

NM_000059.4(BRCA2):c.5110A>G (p.Arg1704Gly)

SNV
Germline

Chr13:32339465

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387784136

rs_1064795652

4 SubmittersRCV000566771 RCV003645027

NM_000059.4(BRCA2):c.793+1G>C

SNV
Germline

Chr13:32331031

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
8 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA387760275

rs_81002846

4 SubmittersRCV000573440 RCV000576675 RCV000794282 RCV005398875

NM_000059.4(BRCA2):c.905C>T (p.Thr302Ile)

SNV
Germline

Chr13:32332383

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387760688

rs_80359158

4 SubmittersRCV000567016 RCV000707301

NM_000059.4(BRCA2):c.1217C>G (p.Ala406Gly)

SNV
Germline

Chr13:32332695

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
8 conditions

Criteria Provided
Conflicting Classifications

CA247496852

rs_1005568368

8 SubmittersRCV000565726 RCV000589717 RCV001037283 RCV004001011 RCV005010543

NM_000059.4(BRCA2):c.5245T>G (p.Tyr1749Asp)

SNV
Germline

Chr13:32339600

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387784692

rs_876658731

3 SubmittersRCV000564773 RCV003645044

NM_000059.4(BRCA2):c.5274T>C (p.Asn1758=)

SNV
Germline

Chr13:32339629

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA483438491

rs_1555284142

3 SubmittersRCV000570572 RCV000875121 RCV004767396

NM_000059.4(BRCA2):c.5284T>G (p.Tyr1762Asp)

SNV
Germline

Chr13:32339639

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA387784769

rs_1192019733

9 SubmittersRCV000575439 RCV000706689 RCV000989039 RCV001284427

NM_000059.4(BRCA2):c.7787G>T (p.Gly2596Val)

SNV
Germline

Chr13:32357911

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA387746014

rs_1064795140

4 SubmittersRCV000570320 RCV001858271 RCV003234784

NM_000059.4(BRCA2):c.1317T>A (p.Phe439Leu)

SNV
Germline

Chr13:32332795

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387762640

rs_1555281834

3 SubmittersRCV000562092 RCV006612397

NM_000059.4(BRCA2):c.7796A>G (p.Glu2599Gly)

SNV
Germline

Chr13:32357920

Likely pathogenic

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
BRCA2-related cancer predisposition
Condition: not provided

Reviewed By Expert Panel

CA387746086

rs_780715340

5 SubmittersRCV000562312 RCV000637780 RCV005415436 RCV006273908

NM_000059.4(BRCA2):c.7820C>T (p.Thr2607Ile)

SNV
Germline

Chr13:32362537

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA387746983

rs_1555286821

4 SubmittersRCV000575468 RCV000818024 RCV001171394 RCV003459345

NM_000059.4(BRCA2):c.5500A>G (p.Ser1834Gly)

SNV
Germline

Chr13:32339855

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA6940880

rs_760602053

4 SubmittersRCV000570636 RCV000799159

NM_000059.4(BRCA2):c.5551A>T (p.Ile1851Phe)

SNV
Germline

Chr13:32339906

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387785957

rs_1555284265

3 SubmittersRCV000570605 RCV001213951

NM_000059.4(BRCA2):c.1408G>A (p.Glu470Lys)

SNV
Germline

Chr13:32332886

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387764178

rs_1555281898

3 SubmittersRCV000570896 RCV001240390

NM_000059.4(BRCA2):c.5629A>G (p.Asn1877Asp)

SNV
Germline

Chr13:32339984

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387786121

rs_1555284317

4 SubmittersRCV000562707 RCV001591320 RCV002527978

NM_000059.4(BRCA2):c.5789T>C (p.Leu1930Ser)

SNV
Germline

Chr13:32340144

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387787167

rs_397507805

3 SubmittersRCV000566221 RCV001360314

NM_000059.4(BRCA2):c.1547T>A (p.Phe516Tyr)

SNV
Germline

Chr13:32333025

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA6940524

rs_768641298

3 SubmittersRCV000571171 RCV001867881

NM_000059.4(BRCA2):c.8100A>G (p.Ile2700Met)

SNV
Germline

Chr13:32363302

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387749304

rs_1555286995

3 SubmittersRCV000575820 RCV001260313 RCV002530303

NM_000059.4(BRCA2):c.8104G>C (p.Glu2702Gln)

SNV
Germline

Chr13:32363306

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA247477685

rs_186224762

3 SubmittersRCV000572694 RCV001037909 RCV004001112

NM_000059.4(BRCA2):c.5923T>C (p.Cys1975Arg)

SNV
Germline

Chr13:32340278

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387787537

rs_1555284462

3 SubmittersRCV000568115 RCV001858083

NM_000059.4(BRCA2):c.5924G>A (p.Cys1975Tyr)

SNV
Germline

Chr13:32340279

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2
not specified
BRCA2-related cancer predisposition
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA387787539

rs_767378196

9 SubmittersRCV000571254 RCV001359518 RCV003329310 RCV004024480 RCV004596272 RCV004802210 RCV005624415

NM_000059.4(BRCA2):c.2149T>G (p.Cys717Gly)

SNV
Germline

Chr13:32336504

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387770180

rs_1555282483

6 SubmittersRCV000575188 RCV001563452 RCV001858267

NM_000059.4(BRCA2):c.5996T>A (p.Val1999Glu)

SNV
Germline

Chr13:32340351

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387787667

rs_1555284494

3 SubmittersRCV000563619 RCV003645038

NM_000059.4(BRCA2):c.8267C>G (p.Ala2756Gly)

SNV
Germline

Chr13:32363469

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387750021

rs_1555287069

3 SubmittersRCV000571440 RCV001764659 RCV002528115

NM_000059.4(BRCA2):c.2197G>T (p.Val733Phe)

SNV
Germline

Chr13:32336552

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387770484

rs_876658303

3 SubmittersRCV000576121 RCV001858268

NM_000059.4(BRCA2):c.2244C>G (p.Tyr748Ter)

SNV
Germline

Chr13:32336599

Pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA387770853

rs_1555282563

3 SubmittersRCV000569671 RCV001283915 RCV001389997

NM_000059.4(BRCA2):c.6121T>A (p.Ser2041Thr)

SNV
Germline

Chr13:32340476

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Familial cancer of breast
not specified
Breast-ovarian cancer, familial, susceptibility to, 2
Breast-ovarian cancer, familial, susceptibility to, 2
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA387788163

rs_1160083526

8 SubmittersRCV000575027 RCV000808364 RCV002250658 RCV002509439 RCV004000831 RCV005357635

NM_000059.4(BRCA2):c.2321C>T (p.Thr774Ile)

SNV
Germline

Chr13:32336676

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA387771456

rs_1239876081

6 SubmittersRCV000562056 RCV001206256 RCV002248789 RCV005000309

NM_000059.4(BRCA2):c.6121T>C (p.Ser2041Pro)

SNV
Germline

Chr13:32340476

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA387788165

rs_1160083526

6 SubmittersRCV000572108 RCV000813354 RCV001193886 RCV001775881 RCV004000832

NM_000059.4(BRCA2):c.2451G>T (p.Lys817Asn)

SNV
Germline

Chr13:32336806

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA6940605

rs_767686668

8 SubmittersRCV000569494 RCV000758875 RCV000781098 RCV001307982 RCV005869627

NM_000059.4(BRCA2):c.2452A>C (p.Asn818His)

SNV
Germline

Chr13:32336807

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified

Criteria Provided
Conflicting Classifications

CA6940606

rs_750667529

7 SubmittersRCV000571789 RCV001368851 RCV001821672

NM_000059.4(BRCA2):c.6554C>T (p.Ala2185Val)

SNV
Germline

Chr13:32340909

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer
BRCA2-related disorder

Criteria Provided
Conflicting Classifications

CA247514034

rs_980859921

8 SubmittersRCV000574498 RCV000709328 RCV000989053 RCV004701665 RCV004527661

NM_000059.4(BRCA2):c.8452G>T (p.Val2818Phe)

SNV
Germline

Chr13:32370522

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
Fanconi anemia complementation group D1
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA387752584

rs_80359094

8 SubmittersRCV000566230 RCV001320393 RCV001821668 RCV003227793 RCV003234782

NM_000059.4(BRCA2):c.2519T>C (p.Met840Thr)

SNV
Germline

Chr13:32336874

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA6940610

rs_758009637

5 SubmittersRCV000564018 RCV000694649 RCV004000926

NM_000059.4(BRCA2):c.8456A>T (p.Asp2819Val)

SNV
Germline

Chr13:32370526

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387752592

rs_1555287655

2 SubmittersRCV000567807 RCV001240619

NM_000059.4(BRCA2):c.2521A>G (p.Arg841Gly)

SNV
Germline

Chr13:32336876

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387772468

rs_1555282722

3 SubmittersRCV000564775 RCV005091376

NM_000059.4(BRCA2):c.8633-3T>G

SNV
Germline

Chr13:32376667

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified

Criteria Provided
Conflicting Classifications

CA609092852

rs_1283205861

3 SubmittersRCV000570857 RCV000637389 RCV005438010

NM_000059.4(BRCA2):c.2648T>C (p.Phe883Ser)

SNV
Germline

Chr13:32337003

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387773290

rs_1555282770

3 SubmittersRCV000575458 RCV001858086

NM_000059.4(BRCA2):c.6619A>G (p.Thr2207Ala)

SNV
Germline

Chr13:32340974

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA16622064

rs_1555284772

4 SubmittersRCV000574573 RCV001345669 RCV002272286

NM_000059.4(BRCA2):c.6647C>G (p.Ser2216Cys)

SNV
Germline

Chr13:32341002

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387790379

rs_1555284777

4 SubmittersRCV000570200 RCV004000835 RCV005056195

NM_000059.4(BRCA2):c.2870A>G (p.Asn957Ser)

SNV
Germline

Chr13:32337225

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA387774021

rs_1555282918

5 SubmittersRCV000566925 RCV000799838 RCV006270402

NM_000059.4(BRCA2):c.2922C>G (p.Asp974Glu)

SNV
Germline

Chr13:32337277

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome
Condition: not provided
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA247503315

rs_929538989

8 SubmittersRCV000560988 RCV000779991 RCV001038891 RCV003478203 RCV004802189

NM_000059.4(BRCA2):c.9037A>G (p.Thr3013Ala)

SNV
Germline

Chr13:32379833

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA387757515

rs_1555288470

4 SubmittersRCV000570012 RCV001375531 RCV002298665 RCV003318596

NM_000059.4(BRCA2):c.3368G>A (p.Ser1123Asn)

SNV
Germline

Chr13:32337723

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA387776393

rs_1555283202

5 SubmittersRCV000572509 RCV001054565 RCV001358197 RCV004773009

NM_000059.4(BRCA2):c.9147C>G (p.Tyr3049Ter)

SNV
Germline

Chr13:32380036

Pathogenic

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA387757888

rs_886040823

4 SubmittersRCV000564771 RCV001858183 RCV003459319

NM_000059.4(BRCA2):c.9208T>C (p.Ser3070Pro)

SNV
Germline

Chr13:32380097

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387758332

rs_1555288554

2 SubmittersRCV000563493 RCV001223442

NM_000059.4(BRCA2):c.3595G>T (p.Asp1199Tyr)

SNV
Germline

Chr13:32337950

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387777459

rs_1060502404

3 SubmittersRCV000567282 RCV005091299

NM_000059.4(BRCA2):c.3691A>T (p.Thr1231Ser)

SNV
Germline

Chr13:32338046

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387778030

rs_1555283363

3 SubmittersRCV000573243 RCV001858161

NM_000059.4(BRCA2):c.9295A>G (p.Asn3099Asp)

SNV
Germline

Chr13:32394727

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
8 conditions

Criteria Provided
Conflicting Classifications

CA387760865

rs_1555289516

4 SubmittersRCV000568569 RCV002526824 RCV002483527

NM_000059.4(BRCA2):c.3800A>G (p.Asp1267Gly)

SNV
Germline

Chr13:32338155

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA387778411

rs_1555283400

5 SubmittersRCV000574675 RCV000700360 RCV002261125 RCV004000913

NM_000059.4(BRCA2):c.9521A>G (p.Asn3174Ser)

SNV
Germline

Chr13:32396917

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA387762989

rs_1555289773

6 SubmittersRCV000571672 RCV000709342 RCV001002292 RCV000989090 RCV006260271

NM_000059.4(BRCA2):c.3941A>G (p.Lys1314Arg)

SNV
Germline

Chr13:32338296

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified

Criteria Provided
Conflicting Classifications

CA387778872

rs_1344698119

5 SubmittersRCV000567669 RCV001299283 RCV001800762

NM_000059.4(BRCA2):c.7974C>T (p.Tyr2658=)

SNV
Germline

Chr13:32362691

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified

Criteria Provided
Conflicting Classifications

CA483261063

rs_80359025

3 SubmittersRCV000574689 RCV001396043 RCV002268176

NM_000059.4(BRCA2):c.8275G>T (p.Val2759Leu)

SNV
Germline

Chr13:32363477

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387750061

rs_1320594065

2 SubmittersRCV000564970 RCV001066023

NM_000059.4(BRCA2):c.4113G>T (p.Gln1371His)

SNV
Germline

Chr13:32338468

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387779299

rs_1555283563

3 SubmittersRCV000566570 RCV001358851

NM_000059.4(BRCA2):c.4390T>G (p.Ser1464Ala)

SNV
Germline

Chr13:32338745

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387781088

rs_1555283760

3 SubmittersRCV000561437 RCV001052613

NM_000059.4(BRCA2):c.4400A>G (p.His1467Arg)

SNV
Germline

Chr13:32338755

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
8 conditions

Criteria Provided
Conflicting Classifications

CA387781132

rs_1555283765

5 SubmittersRCV000576022 RCV000807376 RCV005010542

NM_000059.4(BRCA2):c.4430T>C (p.Ile1477Thr)

SNV
Germline

Chr13:32338785

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387781289

rs_1555283775

4 SubmittersRCV000564623 RCV002250659 RCV006612392

NM_000059.4(BRCA2):c.4447A>G (p.Thr1483Ala)

SNV
Germline

Chr13:32338802

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387781364

rs_1555283789

3 SubmittersRCV000570051 RCV003645042

NM_000059.4(BRCA2):c.4462C>T (p.His1488Tyr)

SNV
Germline

Chr13:32338817

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387781418

rs_1555283795

4 SubmittersRCV000576055 RCV000637316

NM_000059.4(BRCA2):c.4832T>C (p.Val1611Ala)

SNV
Germline

Chr13:32339187

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387783327

rs_1555283950

3 SubmittersRCV000574024 RCV006612395

NM_000059.4(BRCA2):c.5062G>A (p.Glu1688Lys)

SNV
Germline

Chr13:32339417

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA387784041

rs_1555284052

4 SubmittersRCV000573634 RCV001065242 RCV004000930

NM_000059.4(BRCA2):c.8600C>T (p.Thr2867Ile)

SNV
Germline

Chr13:32371068

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA387752887

rs_1555287785

3 SubmittersRCV000562393 RCV001369600 RCV004701664

NM_000059.4(BRCA2):c.8633-5C>G

SNV
Germline

Chr13:32376665

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA658656392

rs_1555288114

3 SubmittersRCV000568865 RCV000985606 RCV001858269

NM_000059.4(BRCA2):c.5165G>A (p.Ser1722Asn)

SNV
Germline

Chr13:32339520

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387784251

rs_773707172

4 SubmittersRCV000566232 RCV006463402

NM_000059.4(BRCA2):c.5285A>G (p.Tyr1762Cys)

SNV
Germline

Chr13:32339640

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified

Criteria Provided
Conflicting Classifications

CA387784770

rs_80358753

5 SubmittersRCV000567861 RCV000818067 RCV001821673

NM_000059.4(BRCA2):c.8744C>T (p.Ala2915Val)

SNV
Germline

Chr13:32376781

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
Condition: not provided
Familial prostate cancer

Criteria Provided
Conflicting Classifications

CA387755061

rs_1310128359

7 SubmittersRCV000572298 RCV000706907 RCV001358741 RCV006260284 RCV005367413

NM_000059.4(BRCA2):c.5437C>A (p.Leu1813Ile)

SNV
Germline

Chr13:32339792

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
BRCA2-related cancer predisposition
not specified

Criteria Provided
Conflicting Classifications

CA387785511

rs_1555284228

7 SubmittersRCV000563793 RCV001359184 RCV003313106 RCV004802215 RCV004596273

NM_000059.4(BRCA2):c.5462A>G (p.Lys1821Arg)

SNV
Germline

Chr13:32339817

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387785647

rs_1555284238

3 SubmittersRCV000571216 RCV003645043

NM_000059.4(BRCA2):c.5695G>A (p.Asp1899Asn)

SNV
Germline

Chr13:32340050

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6940897

rs_371189402

5 SubmittersRCV000574011 RCV001039196 RCV001755941

NM_000059.4(BRCA2):c.5719T>G (p.Ser1907Ala)

SNV
Germline

Chr13:32340074

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA6940899

rs_753445027

4 SubmittersRCV000561520 RCV001232076 RCV005357633

NM_000059.4(BRCA2):c.5867A>T (p.Asp1956Val)

SNV
Germline

Chr13:32340222

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA387787428

rs_1309562690

6 SubmittersRCV000563256 RCV000637411 RCV001584383

NM_000059.4(BRCA2):c.5909C>G (p.Ser1970Ter)

SNV
Germline

Chr13:32340264

Pathogenic

Hereditary cancer-predisposing syndrome
Breast and/or ovarian cancer
Condition: not provided
Hereditary breast ovarian cancer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA387787511

rs_80358824

4 SubmittersRCV000573759 RCV001271042 RCV006260270 RCV006556257

NM_000059.4(BRCA2):c.9005A>G (p.Glu3002Gly)

SNV
Germline

Chr13:32379801

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387757453

rs_1555288459

2 SubmittersRCV000562479 RCV005091298

NM_000059.4(BRCA2):c.9193T>G (p.Phe3065Val)

SNV
Germline

Chr13:32380082

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387758213

rs_1555288546

2 SubmittersRCV000567520 RCV003645026

NM_000059.4(BRCA2):c.9198G>C (p.Gln3066His)

SNV
Germline

Chr13:32380087

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA6941353

rs_745758977

4 SubmittersRCV000563822 RCV000694356 RCV001534120 RCV004569149

NM_000059.4(BRCA2):c.9229T>C (p.Phe3077Leu)

SNV
Germline

Chr13:32380118

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387758532

rs_1555288568

3 SubmittersRCV000563863 RCV000626306 RCV001867880

NM_000059.4(BRCA2):c.6165C>G (p.Phe2055Leu)

SNV
Germline

Chr13:32340520

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387788338

rs_1555284579

4 SubmittersRCV000563091 RCV005091372

NM_000059.4(BRCA2):c.6313A>C (p.Ile2105Leu)

SNV
Germline

Chr13:32340668

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387789051

rs_397507368

3 SubmittersRCV000574796 RCV000705138

NM_000059.4(BRCA2):c.9310A>T (p.Lys3104Ter)

SNV
Germline

Chr13:32394742

Pathogenic

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA387760919

rs_1555289521

2 SubmittersRCV000574188 RCV001064553

NM_000059.4(BRCA2):c.9401G>A (p.Gly3134Asp)

SNV
Germline

Chr13:32394833

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387761369

rs_80359215

2 SubmittersRCV000561600 RCV001223704

NM_000059.4(BRCA2):c.9649-1G>C

SNV
Germline

Chr13:32398161

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA387765050

rs_1555289898

2 SubmittersRCV000565099 RCV005091375

NM_000059.4(BRCA2):c.10198A>G (p.Ser3400Gly)

SNV
Germline

Chr13:32398711

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387768393

rs_1555290068

3 SubmittersRCV000567244 RCV004000934 RCV003767124

NM_000059.4(BRCA2):c.6448A>C (p.Lys2150Gln)

SNV
Germline

Chr13:32340803

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA387789324

rs_1403648108

8 SubmittersRCV000565008 RCV000662567 RCV001724066 RCV001858157 RCV005357659

NM_000059.4(BRCA2):c.6496G>T (p.Val2166Leu)

SNV
Germline

Chr13:32340851

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA6940964

rs_750084851

5 SubmittersRCV000566050 RCV000686167 RCV004000925

NM_000059.4(BRCA2):c.6506C>T (p.Thr2169Ile)

SNV
Germline

Chr13:32340861

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387789560

rs_1555284726

4 SubmittersRCV000570270 RCV000807789

NM_000059.4(BRCA2):c.6553G>C (p.Ala2185Pro)

SNV
Germline

Chr13:32340908

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
not specified
Pancreatic cancer, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA387789803

rs_746070652

9 SubmittersRCV000576075 RCV000759644 RCV001340607 RCV001821657 RCV005357632

NM_000059.4(BRCA2):c.6646T>G (p.Ser2216Ala)

SNV
Germline

Chr13:32341001

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified

Criteria Provided
Conflicting Classifications

CA247514266

rs_918816907

5 SubmittersRCV000568247 RCV000699985 RCV001824830

NM_000059.4(BRCA2):c.739A>G (p.Ile247Val)

SNV
Germline

Chr13:32330976

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Breast and/or ovarian cancer
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387760056

rs_1169190081

4 SubmittersRCV000564401 RCV003492104 RCV005091340

NM_000059.4(BRCA2):c.6650A>G (p.Lys2217Arg)

SNV
Germline

Chr13:32341005

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387790393

rs_1555284781

3 SubmittersRCV000575587 RCV001318547

NM_000059.4(BRCA2):c.6712G>A (p.Asp2238Asn)

SNV
Germline

Chr13:32341067

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA6940976

rs_749590229

5 SubmittersRCV000564862 RCV000700666 RCV005409677

NM_000059.4(BRCA2):c.793+5G>A

SNV
Germline

Chr13:32331035

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA6940442

rs_779282053

2 SubmittersRCV000572419 RCV000700583

NM_000059.4(BRCA2):c.1022G>A (p.Cys341Tyr)

SNV
Germline

Chr13:32332500

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA387761127

rs_80358403

6 SubmittersRCV000575372 RCV001230162 RCV003441951 RCV004001012

NM_000059.4(BRCA2):c.7121A>G (p.Asn2374Ser)

SNV
Germline

Chr13:32354974

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA387738734

rs_1379054137

6 SubmittersRCV000575236 RCV000804735 RCV001591321 RCV003233747

NM_000059.4(BRCA2):c.1196C>A (p.Thr399Asn)

SNV
Germline

Chr13:32332674

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387762043

rs_1555281772

3 SubmittersRCV000564758 RCV003645025

NM_000059.4(BRCA2):c.7435+4T>A

SNV
Germline

Chr13:32355292

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA658656423

rs_1555286131

2 SubmittersRCV000570194 RCV001858263

NM_000059.4(BRCA2):c.7472A>G (p.Gln2491Arg)

SNV
Germline

Chr13:32356464

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA247469683

rs_185012573

5 SubmittersRCV000567018 RCV000781138 RCV000819102 RCV003328599

NM_000059.4(BRCA2):c.1628A>G (p.His543Arg)

SNV
Germline

Chr13:32333106

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387764922

rs_1555281992

3 SubmittersRCV000570456 RCV000691387

NM_000059.4(BRCA2):c.1741T>C (p.Ser581Pro)

SNV
Germline

Chr13:32333219

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA247498087

rs_55667299

4 SubmittersRCV000572100 RCV001072032 RCV004802191

NM_000059.4(BRCA2):c.7570A>T (p.Lys2524Ter)

SNV
Germline

Chr13:32356562

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA387743779

rs_1555286291

2 SubmittersRCV000561996 RCV002265800

NM_000059.4(BRCA2):c.1991G>C (p.Gly664Ala)

SNV
Germline

Chr13:32336346

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387768655

rs_1555282391

3 SubmittersRCV000575118 RCV001224116

NM_000059.4(BRCA2):c.2249A>G (p.Asp750Gly)

SNV
Germline

Chr13:32336604

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387770889

rs_1555282574

3 SubmittersRCV000572429 RCV006463360

NM_000059.4(BRCA2):c.7882A>G (p.Ile2628Val)

SNV
Germline

Chr13:32362599

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA387747110

rs_1483187442

6 SubmittersRCV000564484 RCV000637732 RCV001532893 RCV003459320 RCV004000932

NM_000059.4(BRCA2):c.2316T>C (p.Thr772=)

SNV
Germline

Chr13:32336671

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA483437128

rs_1200751613

3 SubmittersRCV000568983 RCV001454235 RCV006260282

NM_000059.4(BRCA2):c.2543A>G (p.Lys848Arg)

SNV
Germline

Chr13:32336898

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA387772508

rs_1555282739

5 SubmittersRCV000570148 RCV001315218 RCV004696948

NM_000059.4(BRCA2):c.2893A>G (p.Met965Val)

SNV
Germline

Chr13:32337248

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387774131

rs_1555282927

3 SubmittersRCV000568564 RCV000637340

NM_000059.4(BRCA2):c.2918C>G (p.Ser973Trp)

SNV
Germline

Chr13:32337273

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA387774206

rs_397507296

4 SubmittersRCV000569352 RCV001231889 RCV003234563

NM_000059.4(BRCA2):c.8375T>G (p.Leu2792Arg)

SNV
Germline

Chr13:32370445

Likely pathogenic

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
BRCA2-related cancer predisposition

Reviewed By Expert Panel

CA387752450

rs_28897751

3 SubmittersRCV000561173 RCV001219386 RCV006276091

NM_000059.4(BRCA2):c.8407C>T (p.Leu2803=)

SNV
Germline

Chr13:32370477

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA483261212

rs_1555287631

7 SubmittersRCV000561149 RCV000604881 RCV001483422 RCV003478249 RCV004001017

NM_000059.4(BRCA2):c.8554G>A (p.Ala2852Thr)

SNV
Germline

Chr13:32371022

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387752784

rs_1555287769

3 SubmittersRCV000570948 RCV001297064

NM_000059.4(BRCA2):c.8756G>A (p.Gly2919Asp)

SNV
Germline

Chr13:32379318

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA387755702

rs_80359131

3 SubmittersRCV000562924 RCV001041363 RCV001284592

NM_000059.4(BRCA2):c.9377A>C (p.Gln3126Pro)

SNV
Germline

Chr13:32394809

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Familial cancer of breast
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA387761238

rs_397507426

4 SubmittersRCV000562173 RCV001045140 RCV003459346 RCV004802232

NM_000059.4(BRCA2):c.9531A>G (p.Glu3177=)

SNV
Germline

Chr13:32396927

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA483271601

rs_1555289774

3 SubmittersRCV000564601 RCV000758979 RCV002060390

NM_000059.4(BRCA2):c.9573G>C (p.Trp3191Cys)

SNV
Germline

Chr13:32396969

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA387763366

rs_398122617

4 SubmittersRCV000570986 RCV003645037 RCV005000263

NM_000059.4(BRCA2):c.3106G>A (p.Glu1036Lys)

SNV
Germline

Chr13:32337461

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387775375

rs_1060502449

4 SubmittersRCV000566916 RCV003441945 RCV003645039

NM_000059.4(BRCA2):c.3134T>C (p.Val1045Ala)

SNV
Germline

Chr13:32337489

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387775735

rs_1555283061

3 SubmittersRCV000568190 RCV002298673

NM_000059.4(BRCA2):c.3220A>G (p.Ser1074Gly)

SNV
Germline

Chr13:32337575

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387775900

rs_145605603

3 SubmittersRCV000575509 RCV005091295

NM_000059.4(BRCA2):c.3343T>C (p.Ser1115Pro)

SNV
Germline

Chr13:32337698

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA387776321

rs_1204868565

7 SubmittersRCV000567148 RCV001038261 RCV001509438 RCV004000928

NM_000059.4(BRCA2):c.3623T>C (p.Leu1208Ser)

SNV
Germline

Chr13:32337978

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387777585

rs_1555283314

3 SubmittersRCV000563419 RCV006556256

NM_000059.4(BRCA2):c.3971A>G (p.Tyr1324Cys)

SNV
Germline

Chr13:32338326

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387778934

rs_1486461236

3 SubmittersRCV000568991 RCV001345508

NM_000059.4(BRCA2):c.4106C>T (p.Ser1369Phe)

SNV
Germline

Chr13:32338461

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387779280

rs_1555283554

3 SubmittersRCV000561231 RCV000816953

NM_000059.4(BRCA2):c.4137G>T (p.Gln1379His)

SNV
Germline

Chr13:32338492

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387779399

rs_768918982

4 SubmittersRCV000573009 RCV001362913

NM_000059.4(BRCA2):c.4405G>A (p.Asp1469Asn)

SNV
Germline

Chr13:32338760

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA387781153

rs_1555283770

4 SubmittersRCV000569976 RCV001867882 RCV005601004

NM_000059.4(BRCA2):c.4543A>G (p.Lys1515Glu)

SNV
Germline

Chr13:32338898

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387781755

rs_1555283834

4 SubmittersRCV000574586 RCV000637547

NM_000059.4(BRCA2):c.4888T>C (p.Ser1630Pro)

SNV
Germline

Chr13:32339243

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387783515

rs_1555283977

3 SubmittersRCV000561809 RCV001063299

NM_000059.4(BRCA2):c.5202A>C (p.Glu1734Asp)

SNV
Germline

Chr13:32339557

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA387784594

rs_1243093278

6 SubmittersRCV000575961 RCV000637330 RCV001557187

NM_000059.4(BRCA2):c.5515G>A (p.Val1839Ile)

SNV
Germline

Chr13:32339870

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA6940881

rs_776630512

4 SubmittersRCV000574973 RCV000637668 RCV005620981

NM_000059.4(BRCA2):c.5533A>G (p.Arg1845Gly)

SNV
Germline

Chr13:32339888

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA387785921

rs_1294545669

6 SubmittersRCV000561760 RCV000806176 RCV003478250 RCV004001018

NM_000059.4(BRCA2):c.5578A>G (p.Lys1860Glu)

SNV
Germline

Chr13:32339933

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA387786009

rs_431825332

5 SubmittersRCV000573798 RCV000637562 RCV004773000

NM_000059.4(BRCA2):c.5989A>G (p.Arg1997Gly)

SNV
Germline

Chr13:32340344

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
not specified
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387787655

rs_1555284492

5 SubmittersRCV000561637 RCV004001009 RCV003330805 RCV005091369

NM_000059.4(BRCA2):c.6100C>A (p.Arg2034Ser)

SNV
Germline

Chr13:32340455

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified

Criteria Provided
Conflicting Classifications

CA387788089

rs_1799954

4 SubmittersRCV000565684 RCV001348335 RCV001800763

NM_000059.4(BRCA2):c.6298C>A (p.Gln2100Lys)

SNV
Germline

Chr13:32340653

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6940941

rs_746661607

4 SubmittersRCV000566896 RCV000637615 RCV002508231

NM_000059.4(BRCA2):c.6301A>C (p.Asn2101His)

SNV
Germline

Chr13:32340656

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA387789027

rs_1430866716

5 SubmittersRCV000565803 RCV001208948 RCV004802225

NM_000059.4(BRCA2):c.6715G>C (p.Glu2239Gln)

SNV
Germline

Chr13:32341070

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387791014

rs_276174876

4 SubmittersRCV000573449 RCV003645049

NM_000059.4(BRCA2):c.7477A>T (p.Met2493Leu)

SNV
Germline

Chr13:32356469

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Malignant tumor of breast
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387743260

rs_1064793329

4 SubmittersRCV000571269 RCV001354552 RCV003645032

NM_000059.4(BRCA2):c.7618-5T>C

SNV
Germline

Chr13:32357737

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA609453901

rs_1356264344

4 SubmittersRCV000564779 RCV000944430 RCV005000264 RCV005407750

NM_000059.4(BRCA2):c.7646G>C (p.Cys2549Ser)

SNV
Germline

Chr13:32357770

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387744892

rs_1555286395

2 SubmittersRCV000563644 RCV006612386

NM_024675.4(PALB2):c.2218C>T (p.Gln740Ter)

SNV
Germline

Chr16:23629936

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Familial cancer of breast
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA395125558

rs_1555460445

7 SubmittersRCV000567438 RCV000587693 RCV000989559 RCV003318598

NM_000059.4(BRCA2):c.8164A>G (p.Thr2722Ala)

SNV
Germline

Chr13:32363366

Likely pathogenic

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
BRCA2-related cancer predisposition

Reviewed By Expert Panel

CA387749574

rs_1555287019

4 SubmittersRCV000561836 RCV001213108 RCV004787901 RCV005628827

NM_000059.4(BRCA2):c.8167G>A (p.Asp2723Asn)

SNV
Germline

Chr13:32363369

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA387749585

rs_41293511

6 SubmittersRCV000570332 RCV001234934 RCV006260324

NM_000059.4(BRCA2):c.8227G>C (p.Gly2743Arg)

SNV
Germline

Chr13:32363429

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387749844

rs_397507397

2 SubmittersRCV000565433 RCV003767123

NM_000059.4(BRCA2):c.8527A>C (p.Asn2843His)

SNV
Germline

Chr13:32370995

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA387752728

rs_876660403

4 SubmittersRCV000573644 RCV003530073 RCV004569148

NM_000059.4(BRCA2):c.8774A>C (p.Gln2925Pro)

SNV
Germline

Chr13:32379336

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387755820

rs_80359135

2 SubmittersRCV000573292 RCV001229209

NM_000059.4(BRCA2):c.8819A>G (p.Lys2940Arg)

SNV
Germline

Chr13:32379381

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA247493156

rs_200157227

4 SubmittersRCV000567588 RCV001223923 RCV003607319

NM_000059.4(BRCA2):c.9149A>T (p.Gln3050Leu)

SNV
Germline

Chr13:32380038

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387757897

rs_1555288535

5 SubmittersRCV000566712 RCV000759686 RCV001048049

NM_000059.4(BRCA2):c.9873T>C (p.Ser3291=)

SNV
Germline

Chr13:32398386

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA483440209

rs_1555289984

5 SubmittersRCV000562898 RCV002060431 RCV003478232 RCV005240216

NM_000059.4(BRCA2):c.10084T>C (p.Phe3362Leu)

SNV
Germline

Chr13:32398597

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387767942

rs_1356012723

2 SubmittersRCV000572441 RCV005056205

NM_024675.4(PALB2):c.682C>T (p.Gln228Ter)

SNV
Germline

Chr16:23635864

Pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 5
PALB2-related cancer predisposition

Reviewed By Expert Panel

CA395136420

rs_1327399690

6 SubmittersRCV000573011 RCV000635756 RCV003987611 RCV006458636 RCV005639052

NM_024675.4(PALB2):c.3130C>T (p.Gln1044Ter)

SNV
Germline

Chr16:23614075

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Hereditary breast ovarian cancer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA395141418

rs_766394024

5 SubmittersRCV000565870 RCV000700246 RCV003155951

NM_001042492.3(NF1):c.2098A>G (p.Thr700Ala)

SNV
Germline

Chr17:31226531

Conflicting classifications of pathogenicity

Neurofibromatosis, type 1
Hereditary breast ovarian cancer syndrome
Cardiovascular phenotype
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA398982252

rs_1555613801

4 SubmittersRCV000632397 RCV001030572 RCV002315769

NM_024675.4(PALB2):c.2512C>T (p.Gln838Ter)

SNV
Germline

Chr16:23629642

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA395123923

rs_750650768

8 SubmittersRCV000561038 RCV001053672 RCV001553686 RCV006260308

NM_002878.4(RAD51D):c.655C>T (p.Gln219Ter)

SNV
Germline

Chr17:35103466

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 4
Condition: not provided
Hereditary breast ovarian cancer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA8499397

rs_771007945

7 SubmittersRCV000561581 RCV000576488 RCV001268531 RCV002298684

NM_002878.4(RAD51D):c.649G>T (p.Gly217Ter)

SNV
Germline

Chr17:35103472

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 4
Condition: not provided
Hereditary breast ovarian cancer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA8499398

rs_775365939

6 SubmittersRCV000566778 RCV000576697 RCV001268532 RCV002298685

NM_007294.4(BRCA1):c.4987-1G>C

SNV
Germline

Chr17:43067696

Pathogenic

Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA10591546

rs_730881495

4 SubmittersRCV000569777 RCV001072943 RCV001383012

NM_007294.4(BRCA1):c.5538G>C (p.Gln1846His)

SNV
Germline

Chr17:43045732

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA055269

rs_80356849

7 SubmittersRCV000569232 RCV001076369 RCV001858257

NM_007294.4(BRCA1):c.5404A>C (p.Thr1802Pro)

SNV
Germline

Chr17:43049123

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10590671

rs_1555575080

3 SubmittersRCV000569981 RCV001076869 RCV002528974

NM_007294.4(BRCA1):c.5111T>A (p.Phe1704Tyr)

SNV
Germline

Chr17:43063915

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10591308

rs_1555578598

5 SubmittersRCV000569177 RCV001072271 RCV001320061 RCV005000233

NM_007294.4(BRCA1):c.4027G>T (p.Asp1343Tyr)

SNV
Germline

Chr17:43091504

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10593904

rs_1160287128

4 SubmittersRCV000561337 RCV000699500

NM_007294.4(BRCA1):c.3889T>A (p.Ser1297Thr)

SNV
Germline

Chr17:43091642

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA10594184

rs_1450793674

8 SubmittersRCV000574192 RCV000589904 RCV000694539 RCV004000921

NM_007294.4(BRCA1):c.3632C>G (p.Ser1211Cys)

SNV
Germline

Chr17:43091899

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified

Criteria Provided
Conflicting Classifications

CA10594703

rs_1555587377

5 SubmittersRCV000570153 RCV000706771 RCV002307545

NM_007294.4(BRCA1):c.3508A>G (p.Ile1170Val)

SNV
Germline

Chr17:43092023

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10594954

rs_273899708

3 SubmittersRCV000568795 RCV002527973

NM_007294.4(BRCA1):c.3383T>C (p.Leu1128Pro)

SNV
Germline

Chr17:43092148

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10595211

rs_1555587827

4 SubmittersRCV000573145 RCV000812453

NM_007294.4(BRCA1):c.4532A>C (p.His1511Pro)

SNV
Germline

Chr17:43074474

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified

Criteria Provided
Conflicting Classifications

CA10592455

rs_1555582004

5 SubmittersRCV000566166 RCV001858076 RCV003321673

NM_007294.4(BRCA1):c.3339T>C (p.Tyr1113=)

SNV
Germline

Chr17:43092192

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA500232628

rs_80357421

3 SubmittersRCV000573732 RCV002526905 RCV003478278

NM_007294.4(BRCA1):c.3181A>C (p.Ile1061Leu)

SNV
Germline

Chr17:43092350

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10595625

rs_876658975

4 SubmittersRCV000575249 RCV001867879 RCV005431770

NM_007294.4(BRCA1):c.2747A>G (p.Asn916Ser)

SNV
Germline

Chr17:43092784

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10596495

rs_864622588

3 SubmittersRCV000567983 RCV002528113

NM_007294.4(BRCA1):c.2746A>G (p.Asn916Asp)

SNV
Germline

Chr17:43092785

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10596497

rs_398122666

3 SubmittersRCV000562649 RCV005091365

NM_007294.4(BRCA1):c.2587G>A (p.Val863Ile)

SNV
Germline

Chr17:43092944

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA10596816

rs_1555589325

5 SubmittersRCV000569809 RCV000758800 RCV001229667 RCV004592698

NM_007294.4(BRCA1):c.4352A>G (p.Glu1451Gly)

SNV
Germline

Chr17:43082409

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA10593019

rs_949793708

4 SubmittersRCV000563313 RCV000637803 RCV001124850

NM_007294.4(BRCA1):c.4132G>T (p.Val1378Phe)

SNV
Germline

Chr17:43090997

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA10593460

rs_28897690

5 SubmittersRCV000563487 RCV001858254 RCV004569196

NM_007294.4(BRCA1):c.5564T>C (p.Ile1855Thr)

SNV
Germline

Chr17:43045706

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10590196

rs_900082291

4 SubmittersRCV000567198 RCV001077623 RCV001316745

NM_007294.4(BRCA1):c.5525T>A (p.Val1842Glu)

SNV
Germline

Chr17:43045745

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10590268

rs_1555574400

6 SubmittersRCV000575866 RCV001072277 RCV003645036

NM_007294.4(BRCA1):c.3889T>C (p.Ser1297Pro)

SNV
Germline

Chr17:43091642

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
BRCA1-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA10594183

rs_1450793674

6 SubmittersRCV000569497 RCV003151790 RCV002526772 RCV004802187

NM_007294.4(BRCA1):c.2227A>C (p.Asn743His)

SNV
Germline

Chr17:43093304

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Familial cancer of breast
Fanconi anemia, complementation group S
Breast-ovarian cancer, familial, susceptibility to, 1
not specified

Criteria Provided
Conflicting Classifications

CA10597547

rs_1212635015

5 SubmittersRCV000575370 RCV001296814 RCV005357678 RCV006452748

NM_007294.4(BRCA1):c.5023A>G (p.Thr1675Ala)

SNV
Germline

Chr17:43067659

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10591468

rs_774452090

3 SubmittersRCV000573938 RCV001076254 RCV003645046

NM_007294.4(BRCA1):c.2135G>T (p.Cys712Phe)

SNV
Germline

Chr17:43093396

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10597733

rs_1555590395

3 SubmittersRCV000570229 RCV000696958

NM_007294.4(BRCA1):c.4993G>C (p.Val1665Leu)

SNV
Germline

Chr17:43067689

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10591533

rs_80357169

6 SubmittersRCV000574073 RCV001077898 RCV001858075 RCV005367406

NM_007294.4(BRCA1):c.1712T>A (p.Ile571Lys)

SNV
Germline

Chr17:43093819

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10598603

rs_80357159

3 SubmittersRCV000566244 RCV003645034

NM_007294.4(BRCA1):c.1471C>G (p.Gln491Glu)

SNV
Germline

Chr17:43094060

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10599106

rs_62625303

4 SubmittersRCV000569954 RCV005091338

NM_007294.4(BRCA1):c.3487A>G (p.Thr1163Ala)

SNV
Germline

Chr17:43092044

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA057835

rs_769456095

3 SubmittersRCV000567829 RCV001320173

NM_007294.4(BRCA1):c.3484G>T (p.Asp1162Tyr)

SNV
Germline

Chr17:43092047

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10595008

rs_1555587619

4 SubmittersRCV000575250 RCV000985399 RCV003530067

NM_007294.4(BRCA1):c.3425C>T (p.Ala1142Val)

SNV
Germline

Chr17:43092106

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
BRCA1-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA10595127

rs_1555587711

4 SubmittersRCV000568611 RCV000812116 RCV004802188

NM_007294.4(BRCA1):c.3267G>T (p.Leu1089Phe)

SNV
Germline

Chr17:43092264

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA058018

rs_767544239

7 SubmittersRCV000563038 RCV000781005 RCV000814517 RCV003478279

NM_007294.4(BRCA1):c.1253A>C (p.Glu418Ala)

SNV
Germline

Chr17:43094278

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Malignant tumor of breast
Condition: not provided
Inherited breast cancer and ovarian cancer

Criteria Provided
Conflicting Classifications

CA10599548

rs_1555592050

7 SubmittersRCV000576146 RCV000819564 RCV001357547 RCV003228959 RCV006556261

NM_007294.4(BRCA1):c.1181G>T (p.Gly394Val)

SNV
Germline

Chr17:43094350

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10599687

rs_1555592295

4 SubmittersRCV000566668 RCV003387884 RCV003645035

NM_007294.4(BRCA1):c.2981G>A (p.Cys994Tyr)

SNV
Germline

Chr17:43092550

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
BRCA1-related cancer predisposition
Fanconi anemia, complementation group S

Criteria Provided
Conflicting Classifications

CA10596038

rs_1238452758

7 SubmittersRCV000561966 RCV001326585 RCV001764658 RCV004802223 RCV005357679

NM_007294.4(BRCA1):c.4054G>C (p.Glu1352Gln)

SNV
Germline

Chr17:43091477

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10593855

rs_80357202

5 SubmittersRCV000575305 RCV001361212 RCV001591326

NM_007294.4(BRCA1):c.2633C>T (p.Ala878Val)

SNV
Germline

Chr17:43092898

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10596726

rs_1555589255

3 SubmittersRCV000569858 RCV001865705

NM_007294.4(BRCA1):c.3953T>C (p.Ile1318Thr)

SNV
Germline

Chr17:43091578

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10594054

rs_1388475291

3 SubmittersRCV000573336 RCV001360071

NM_007294.4(BRCA1):c.2501G>T (p.Gly834Val)

SNV
Germline

Chr17:43093030

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10596995

rs_757383244

3 SubmittersRCV000575873 RCV001070978

NM_007294.4(BRCA1):c.1154G>A (p.Trp385Ter)

SNV
Germline

Chr17:43094377

Pathogenic

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA10599747

rs_1555592354

2 SubmittersRCV000565892 RCV001036173

NM_007294.4(BRCA1):c.3941A>T (p.Asp1314Val)

SNV
Germline

Chr17:43091590

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Hereditary breast ovarian cancer syndrome
Familial pancreatic carcinoma

Criteria Provided
Conflicting Classifications

CA059098

rs_759916956

5 SubmittersRCV000564809 RCV001066344 RCV005357630

NM_007294.4(BRCA1):c.1129A>G (p.Ser377Gly)

SNV
Germline

Chr17:43094402

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10599799

rs_1555592415

3 SubmittersRCV000565234 RCV001369833

NM_007294.4(BRCA1):c.3784T>C (p.Ser1262Pro)

SNV
Germline

Chr17:43091747

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Malignant tumor of breast
not specified

Criteria Provided
Conflicting Classifications

CA10594403

rs_1011096937

6 SubmittersRCV000565656 RCV000691605 RCV001355865 RCV001844197

NM_007294.4(BRCA1):c.1021G>T (p.Asp341Tyr)

SNV
Germline

Chr17:43094510

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
not specified

Criteria Provided
Conflicting Classifications

CA056973

rs_756987689

6 SubmittersRCV000570677 RCV000985362 RCV001858255 RCV003114693

NM_007294.4(BRCA1):c.802A>G (p.Asn268Asp)

SNV
Germline

Chr17:43094729

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10600479

rs_1555593066

3 SubmittersRCV000574618 RCV003645047

NM_007294.4(BRCA1):c.3611G>C (p.Arg1204Thr)

SNV
Germline

Chr17:43091920

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10594746

rs_1456509049

4 SubmittersRCV000572132 RCV001853763

NM_007294.4(BRCA1):c.3418A>C (p.Ser1140Arg)

SNV
Germline

Chr17:43092113

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10595146

rs_2227945

4 SubmittersRCV000561504 RCV001344901 RCV005000261

NM_007294.4(BRCA1):c.2449G>A (p.Gly817Ser)

SNV
Germline

Chr17:43093082

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10597112

rs_1555589646

3 SubmittersRCV000565058 RCV001865706

NM_007294.4(BRCA1):c.2404G>C (p.Val802Leu)

SNV
Germline

Chr17:43093127

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10597200

rs_876660885

5 SubmittersRCV000568741 RCV001193161 RCV001858181 RCV006260281

NM_007294.4(BRCA1):c.3379T>C (p.Tyr1127His)

SNV
Germline

Chr17:43092152

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA10595220

rs_1451089848

6 SubmittersRCV000567123 RCV000703254 RCV001591319 RCV002232396

NM_007294.4(BRCA1):c.2153T>G (p.Leu718Arg)

SNV
Germline

Chr17:43093378

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
BRCA1-related disorder

Criteria Provided
Conflicting Classifications

CA058776

rs_748550848

6 SubmittersRCV000570542 RCV001057152 RCV004001008 RCV004554808

NM_007294.4(BRCA1):c.2093C>T (p.Pro698Leu)

SNV
Germline

Chr17:43093438

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified

Criteria Provided
Conflicting Classifications

CA10597813

rs_1555590478

5 SubmittersRCV000573001 RCV000820698 RCV001527065

NM_007294.4(BRCA1):c.3150T>G (p.Ser1050Arg)

SNV
Germline

Chr17:43092381

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10595681

rs_1555588305

3 SubmittersRCV000571449 RCV000800551

NM_007294.4(BRCA1):c.3134A>G (p.Asn1045Ser)

SNV
Germline

Chr17:43092397

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10595715

rs_1555588330

3 SubmittersRCV000568216 RCV001060862

NM_007294.4(BRCA1):c.1996C>G (p.Leu666Val)

SNV
Germline

Chr17:43093535

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
BRCA1-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA10598019

rs_1555590709

5 SubmittersRCV000574020 RCV001218358 RCV004802222

NM_007294.4(BRCA1):c.1882A>G (p.Ser628Gly)

SNV
Germline

Chr17:43093649

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10598258

rs_1555591000

3 SubmittersRCV000573245 RCV000686430

NM_007294.4(BRCA1):c.1799T>C (p.Ile600Thr)

SNV
Germline

Chr17:43093732

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
not specified

Criteria Provided
Conflicting Classifications

CA10598420

rs_398122643

6 SubmittersRCV000568135 RCV000699677 RCV003999527 RCV004596266

NM_007294.4(BRCA1):c.1487G>T (p.Arg496Leu)

SNV
Germline

Chr17:43094044

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10599071

rs_28897677

3 SubmittersRCV000572180 RCV001865734

NM_007294.4(BRCA1):c.2878G>A (p.Gly960Ser)

SNV
Germline

Chr17:43092653

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10596232

rs_1555588796

3 SubmittersRCV000572311 RCV003530072

NM_007294.4(BRCA1):c.2724A>C (p.Glu908Asp)

SNV
Germline

Chr17:43092807

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10596545

rs_1350643283

3 SubmittersRCV000573491 RCV001858179

NM_007294.4(BRCA1):c.1255G>A (p.Val419Ile)

SNV
Germline

Chr17:43094276

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10599543

rs_876658873

5 SubmittersRCV000570591 RCV001360642 RCV006260297

NM_007294.4(BRCA1):c.2663A>T (p.His888Leu)

SNV
Germline

Chr17:43092868

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA10596669

rs_876658843

4 SubmittersRCV000562208 RCV001226311 RCV003607318

NM_007294.4(BRCA1):c.1132A>G (p.Ser378Gly)

SNV
Germline

Chr17:43094399

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10599793

rs_1555592404

4 SubmittersRCV000575906 RCV001295765

NM_007294.4(BRCA1):c.2575A>G (p.Asn859Asp)

SNV
Germline

Chr17:43092956

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10596842

rs_1555589354

3 SubmittersRCV000564136 RCV001858177

NM_007294.4(BRCA1):c.2471A>G (p.Asn824Ser)

SNV
Germline

Chr17:43093060

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10597061

rs_1485586275

3 SubmittersRCV000569931 RCV001858182

NM_007294.4(BRCA1):c.971G>A (p.Ser324Asn)

SNV
Germline

Chr17:43094560

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified

Criteria Provided
Conflicting Classifications

CA10600122

rs_1462728426

4 SubmittersRCV000573940 RCV000807143 RCV002509446

NM_007294.4(BRCA1):c.1859T>A (p.Ile620Asn)

SNV
Germline

Chr17:43093672

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10598302

rs_1555591085

3 SubmittersRCV000574834 RCV001858258

NM_007294.4(BRCA1):c.1714G>A (p.Glu572Lys)

SNV
Germline

Chr17:43093817

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10598601

rs_730881473

3 SubmittersRCV000566780 RCV001370219

NM_007294.4(BRCA1):c.595G>A (p.Val199Met)

SNV
Germline

Chr17:43095921

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
not specified
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA10600919

rs_1555593622

5 SubmittersRCV000570594 RCV001805191 RCV003767122 RCV003994020 RCV004569146

NM_007294.4(BRCA1):c.1540C>A (p.Pro514Thr)

SNV
Germline

Chr17:43093991

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10598972

rs_1555591584

3 SubmittersRCV000571829 RCV000792382

NM_007294.4(BRCA1):c.1460T>G (p.Val487Gly)

SNV
Germline

Chr17:43094071

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA057270

rs_748812609

4 SubmittersRCV000568521 RCV003767174

NM_007294.4(BRCA1):c.948C>G (p.Ser316Arg)

SNV
Germline

Chr17:43094583

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 1
Fanconi anemia, complementation group S

Criteria Provided
Conflicting Classifications

CA10600171

rs_1555592782

7 SubmittersRCV000561351 RCV001055289 RCV001584381 RCV004001007 RCV005357677

NM_007294.4(BRCA1):c.924C>T (p.Ser308=)

SNV
Germline

Chr17:43094607

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified

Criteria Provided
Conflicting Classifications

CA500234120

rs_1555592819

3 SubmittersRCV000569600 RCV005091367 RCV006273907

NM_007294.4(BRCA1):c.841A>G (p.Ser281Gly)

SNV
Germline

Chr17:43094690

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10600402

rs_1300771163

3 SubmittersRCV000562697 RCV003483675

NM_007294.4(BRCA1):c.785A>G (p.Gln262Arg)

SNV
Germline

Chr17:43094746

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10600508

rs_1555593115

4 SubmittersRCV000564361 RCV003478201 RCV006612385

NM_007294.4(BRCA1):c.80G>T (p.Cys27Phe)

SNV
Germline

Chr17:43124017

Likely pathogenic

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Multiple Submitters
No Conflicts

CA10601996

rs_1064793052

3 SubmittersRCV000561214 RCV000696469 RCV001077723

NM_007294.4(BRCA1):c.202A>G (p.Ile68Val)

SNV
Germline

Chr17:43106466

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
BRCA1-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA10601763

rs_1555597195

5 SubmittersRCV000567414 RCV000694751 RCV001076736 RCV004802185

NM_007294.4(BRCA1):c.117T>A (p.Cys39Ter)

SNV
Germline

Chr17:43115743

Pathogenic

Hereditary cancer-predisposing syndrome
Fanconi anemia, complementation group S
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 1
Pancreatic cancer, susceptibility to, 4
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Multiple Submitters
No Conflicts

CA10601926

rs_886040898

5 SubmittersRCV000574685 RCV000763400 RCV000780971 RCV001076589

NM_058216.3(RAD51C):c.493A>G (p.Met165Val)

SNV
Germline

Chr17:58696781

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group O
Breast-ovarian cancer, familial, susceptibility to, 3
Fanconi anemia complementation group O
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA400344844

rs_1555594766

4 SubmittersRCV000568525 RCV000648248 RCV002491126 RCV005367415

NM_032043.3(BRIP1):c.1941G>A (p.Trp647Ter)

SNV
Germline

Chr17:61776557

Pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Fanconi anemia complementation group J
Hereditary breast ovarian cancer syndrome
Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA400478637

rs_786202760

9 SubmittersRCV000565890 RCV000657705 RCV000690470 RCV001526941 RCV001783077 RCV003335517

NM_002878.4(RAD51D):c.577-2A>G

SNV
Germline

Chr17:35103546

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 4
Hereditary breast ovarian cancer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA399088005

rs_1555567649

8 SubmittersRCV000567818 RCV000760066 RCV001041429 RCV001192467

NM_032043.3(BRIP1):c.193C>T (p.Gln65Ter)

SNV
Germline

Chr17:61859808

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Familial cancer of breast
Fanconi anemia complementation group J
Condition: not provided
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA8690981

rs_575595017

7 SubmittersRCV000568753 RCV000588194 RCV000636179 RCV000657727 RCV003335485

NM_032043.3(BRIP1):c.1004G>A (p.Trp335Ter)

SNV
Germline

Chr17:61801389

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group J
Hereditary breast ovarian cancer syndrome
Familial cancer of breast
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA400484136

rs_1555607749

5 SubmittersRCV000570826 RCV000815867 RCV001280634 RCV003335510 RCV006260299

NM_007294.4(BRCA1):c.5215G>A (p.Asp1739Asn)

SNV
Germline

Chr17:43057114

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10591111

rs_80357283

3 SubmittersRCV000570314 RCV001076224 RCV001372578

NM_007294.4(BRCA1):c.4954A>G (p.Met1652Val)

SNV
Germline

Chr17:43070960

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10591615

rs_1348949389

8 SubmittersRCV000563155 RCV001077349 RCV000985425 RCV001858078

NM_007294.4(BRCA1):c.4674A>G (p.Leu1558=)

SNV
Germline

Chr17:43074332

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA290831878

rs_996042036

4 SubmittersRCV000569235 RCV001302590 RCV004569094

NM_007294.4(BRCA1):c.4636G>C (p.Asp1546His)

SNV
Germline

Chr17:43074370

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA052607

rs_28897691

4 SubmittersRCV000573632 RCV001054471 RCV005248216

NM_007294.4(BRCA1):c.4344C>T (p.Ser1448=)

SNV
Germline

Chr17:43082417

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
not specified

Criteria Provided
Conflicting Classifications

CA500148350

rs_1250691798

7 SubmittersRCV000688632 RCV000574391 RCV000989885 RCV005000234

NM_000546.6(TP53):c.738G>A (p.Met246Ile)

SNV
Germline/somatic

Chr17:7674225

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Hereditary breast ovarian cancer syndrome
Neoplasm
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA287487993

rs_1019340046

5 SubmittersRCV000561491 RCV000633390 RCV003483672 RCV005231087 RCV006452746

NM_007294.4(BRCA1):c.4021G>A (p.Val1341Ile)

SNV
Germline

Chr17:43091510

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA059050

rs_762908108

4 SubmittersRCV000570578 RCV000692212

NM_007294.4(BRCA1):c.3965A>G (p.Lys1322Arg)

SNV
Germline

Chr17:43091566

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10594039

rs_80357042

9 SubmittersRCV000568090 RCV000637586 RCV001193746 RCV003230546 RCV003480698

NM_007294.4(BRCA1):c.3457C>G (p.Leu1153Val)

SNV
Germline

Chr17:43092074

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10595068

rs_1555587658

3 SubmittersRCV000573722 RCV006463386

NM_007294.4(BRCA1):c.2840A>G (p.Lys947Arg)

SNV
Germline

Chr17:43092691

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
BRCA1-related cancer predisposition
Condition: not provided

Criteria Provided
Conflicting Classifications

CA058260

rs_778118145

6 SubmittersRCV000568879 RCV000792546 RCV004802208 RCV005000262

NM_007294.4(BRCA1):c.2822A>G (p.Asn941Ser)

SNV
Germline

Chr17:43092709

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA058293

rs_776512377

4 SubmittersRCV000566569 RCV001240781 RCV005000308

NM_007294.4(BRCA1):c.2609C>G (p.Ala870Gly)

SNV
Germline

Chr17:43092922

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10596776

rs_1060502324

3 SubmittersRCV000564221 RCV001858260

NM_007294.4(BRCA1):c.2488A>T (p.Lys830Ter)

SNV
Germline

Chr17:43093043

Pathogenic

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA10597024

rs_1555589569

2 SubmittersRCV000562965 RCV001070042

NM_007294.4(BRCA1):c.2374G>A (p.Gly792Arg)

SNV
Germline

Chr17:43093157

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10597263

rs_1555589778

3 SubmittersRCV000562469 RCV005091368

NM_007294.4(BRCA1):c.2264A>G (p.Glu755Gly)

SNV
Germline

Chr17:43093267

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10597471

rs_922908090

3 SubmittersRCV000569974 RCV000697719

NM_007294.4(BRCA1):c.2215A>G (p.Lys739Glu)

SNV
Germline

Chr17:43093316

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
not specified
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA058738

rs_56329598

8 SubmittersRCV000561453 RCV000587563 RCV001203880 RCV001821667 RCV004791583

NM_007294.4(BRCA1):c.1910C>T (p.Thr637Ile)

SNV
Germline

Chr17:43093621

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10598201

rs_1555590925

4 SubmittersRCV000569073 RCV001215742 RCV001770501

NM_007294.4(BRCA1):c.1733C>T (p.Ser578Phe)

SNV
Germline

Chr17:43093798

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10598562

rs_80356939

4 SubmittersRCV000568992 RCV001858077

NM_007294.4(BRCA1):c.1207T>C (p.Ser403Pro)

SNV
Germline

Chr17:43094324

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10599636

rs_1555592200

4 SubmittersRCV000560940 RCV002466538 RCV003645033

NM_007294.4(BRCA1):c.1114T>C (p.Trp372Arg)

SNV
Germline

Chr17:43094417

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
not specified
Breast-ovarian cancer, familial, susceptibility to, 1
BRCA1-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA10599829

rs_1306111238

7 SubmittersRCV000574370 RCV000637338 RCV002509450 RCV006452751 RCV006633929 RCV004802239

NM_007294.4(BRCA1):c.1017G>T (p.Lys339Asn)

SNV
Germline

Chr17:43094514

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10600025

rs_863224416

3 SubmittersRCV000567096 RCV002527975

NM_007294.4(BRCA1):c.919A>G (p.Lys307Glu)

SNV
Germline

Chr17:43094612

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10600231

rs_1216516227

5 SubmittersRCV000572449 RCV000691850 RCV000758853

NM_007294.4(BRCA1):c.441+2T>C

SNV
Germline

Chr17:43104120

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA10601263

rs_397509173

2 SubmittersRCV000562527 RCV005091339

NM_058216.3(RAD51C):c.547A>G (p.Ile183Val)

SNV
Germline

Chr17:58696835

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Fanconi anemia complementation group O
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 3

Criteria Provided
Conflicting Classifications

CA8677254

rs_753475114

6 SubmittersRCV000569634 RCV000709505 RCV000798377 RCV003441948 RCV004569163

NM_007194.4(CHEK2):c.1238T>G (p.Leu413Ter)

SNV
Germline

Chr22:28695731

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Hereditary breast ovarian cancer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA411096601

rs_1248967885

6 SubmittersRCV000562978 RCV000657757 RCV001865736 RCV004764791

NM_000546.6(TP53):c.375+5G>A

SNV
Germline/somatic

Chr17:7675989

Likely pathogenic

Hereditary cancer-predisposing syndrome
Ovarian neoplasm
Condition: not provided
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1
Hereditary breast ovarian cancer syndrome
Uterine carcinosarcoma
Osteosarcoma

Reviewed By Expert Panel

CA645589233

rs_1555526466

9 SubmittersRCV000567707 RCV000785337 RCV000786847 RCV001046561 RCV002289804 RCV004764790 RCV005898513 RCV006254106

NM_007194.4(CHEK2):c.415T>C (p.Tyr139His)

SNV
Germline

Chr22:28725272

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA411107956

rs_730881703

4 SubmittersRCV000568786 RCV000796300 RCV004689796

NM_000059.4(BRCA2):c.1910-2A>T

SNV
Germline

Chr13:32336263

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome

Criteria Provided
Single Submitter

CA387768195

rs_1228762581

2 SubmittersRCV000576839 RCV001207879

NM_000059.4(BRCA2):c.2689G>T (p.Glu897Ter)

SNV
Germline

Chr13:32337044

Pathogenic/Likely pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA387773453

rs_979372317

4 SubmittersRCV000576646 RCV000985486 RCV001207149 RCV002456272

NM_000059.4(BRCA2):c.9648+1G>A

SNV
Germline

Chr13:32397045

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387763856

rs_730881573

4 SubmittersRCV000576826 RCV003159971 RCV003767249

NM_007294.4(BRCA1):c.4888G>T (p.Glu1630Ter)

SNV
Germline

Chr17:43071026

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA10591749

rs_1173155015

3 SubmittersRCV000576818 RCV001853823 RCV002341491

NM_007294.4(BRCA1):c.-1A>G

SNV
Germline

Chr17:43124097

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
not specified

Criteria Provided
Conflicting Classifications

CA658656718

rs_587781565

5 SubmittersRCV000776814 RCV001072288 RCV001464656 RCV001844204

NM_014252.4(SLC25A15):c.22C>T (p.Gln8Ter)

SNV
Germline

Chr13:40793248

Pathogenic

Condition: not provided
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
Cardiac arrhythmia
Hereditary breast ovarian cancer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA387916252

rs_1448259297

5 SubmittersRCV000579310 RCV001382896 RCV004526708 RCV004543282

NM_000059.4(BRCA2):c.2299A>C (p.Ser767Arg)

SNV
Germline

Chr13:32336654

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
Condition: not provided
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA6940594

rs_750755676

9 SubmittersRCV000579867 RCV000637714 RCV001821696 RCV002307553 RCV005357723

NM_000059.4(BRCA2):c.4374T>A (p.His1458Gln)

SNV
Germline

Chr13:32338729

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387781016

rs_1060504627

3 SubmittersRCV000580464 RCV001360482

NM_000059.4(BRCA2):c.6406T>A (p.Leu2136Ile)

SNV
Germline

Chr13:32340761

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387789248

rs_1231977477

5 SubmittersRCV000579798 RCV000758926 RCV001340281

NM_000059.4(BRCA2):c.7925T>G (p.Phe2642Cys)

SNV
Germline

Chr13:32362642

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA387747198

rs_1287337540

4 SubmittersRCV000579474 RCV002529091 RCV003459419

NM_000059.4(BRCA2):c.142G>A (p.Glu48Lys)

SNV
Germline

Chr13:32319151

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387754264

rs_1555280354

5 SubmittersRCV000579736 RCV001548511 RCV004568262 RCV005091468

NM_000059.4(BRCA2):c.8009C>G (p.Ser2670Trp)

SNV
Germline

Chr13:32363211

Pathogenic

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
BRCA2-related cancer predisposition

Reviewed By Expert Panel

CA387748738

rs_80359035

7 SubmittersRCV000579856 RCV001212985 RCV003886416 RCV006260347

NM_000059.4(BRCA2):c.8213C>G (p.Ala2738Gly)

SNV
Germline

Chr13:32363415

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Malignant tumor of breast
Hereditary breast ovarian cancer syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA387749788

rs_1555287046

5 SubmittersRCV000579967 RCV001357428 RCV001860041 RCV003459420

NM_000059.4(BRCA2):c.8971C>T (p.Arg2991Cys)

SNV
Germline

Chr13:32379767

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
BRCA2-related cancer predisposition
not specified

Criteria Provided
Conflicting Classifications

CA6941325

rs_751787816

6 SubmittersRCV000580285 RCV000810854 RCV004001247 RCV005367431 RCV006273927

NM_000059.4(BRCA2):c.1327G>A (p.Glu443Lys)

SNV
Germline

Chr13:32332805

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA387762663

rs_397507579

4 SubmittersRCV000580108 RCV001059334 RCV001566908

NM_000059.4(BRCA2):c.1613G>A (p.Ser538Asn)

SNV
Germline

Chr13:32333091

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA247497839

rs_994146384

5 SubmittersRCV000580001 RCV001860038 RCV002286761

NM_000059.4(BRCA2):c.3032C>T (p.Thr1011Ile)

SNV
Germline

Chr13:32337387

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387774928

rs_80358548

4 SubmittersRCV000580124 RCV001312598

NM_000059.4(BRCA2):c.3340C>T (p.Leu1114Phe)

SNV
Germline

Chr13:32337695

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Inherited breast cancer and ovarian cancer
Condition: not provided

Criteria Provided
Conflicting Classifications

CA387776312

rs_1468014859

7 SubmittersRCV000580856 RCV000816799 RCV004001244 RCV004781995 RCV005000339

NM_000059.4(BRCA2):c.3368G>C (p.Ser1123Thr)

SNV
Germline

Chr13:32337723

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA387776394

rs_1555283202

6 SubmittersRCV000581024 RCV000706802 RCV000985498

NM_000059.4(BRCA2):c.4331A>C (p.Asn1444Thr)

SNV
Germline

Chr13:32338686

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387780858

rs_587782661

4 SubmittersRCV000580803 RCV002529090

NM_000059.4(BRCA2):c.1799A>T (p.Tyr600Phe)

SNV
Germline

Chr13:32333277

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2
not specified

Criteria Provided
Conflicting Classifications

CA387765838

rs_397507276

8 SubmittersRCV000580594 RCV000813386 RCV003117346 RCV004001242 RCV004701675

NM_000059.4(BRCA2):c.6587A>G (p.Lys2196Arg)

SNV
Germline

Chr13:32340942

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
8 conditions

Criteria Provided
Conflicting Classifications

CA387790000

rs_1555284764

5 SubmittersRCV000580056 RCV000796475 RCV005010557

NM_000059.4(BRCA2):c.6659A>G (p.Glu2220Gly)

SNV
Germline

Chr13:32341014

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA387790440

rs_1555284784

5 SubmittersRCV000580214 RCV001860039 RCV003117347

NM_000059.4(BRCA2):c.5897A>T (p.His1966Leu)

SNV
Germline

Chr13:32340252

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387787489

rs_80358823

4 SubmittersRCV000579681 RCV003645057

NM_000059.4(BRCA2):c.6438T>G (p.Asn2146Lys)

SNV
Germline

Chr13:32340793

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387789306

rs_1555284698

3 SubmittersRCV000579964 RCV006612405

NM_000059.4(BRCA2):c.6709G>C (p.Asp2237His)

SNV
Germline

Chr13:32341064

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA387790985

rs_1174104045

6 SubmittersRCV000581060 RCV000758931 RCV001853868 RCV003316753

NM_000059.4(BRCA2):c.8689G>T (p.Ala2897Ser)

SNV
Germline

Chr13:32376726

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387754805

rs_1555288156

3 SubmittersRCV000579893 RCV001226142

NM_000059.4(BRCA2):c.8485C>A (p.Gln2829Lys)

SNV
Germline

Chr13:32370555

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387752644

rs_80359099

4 SubmittersRCV000579673 RCV001194437 RCV002529092

NM_000059.4(BRCA2):c.2591A>C (p.Gln864Pro)

SNV
Germline

Chr13:32336946

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA387772610

rs_876659547

5 SubmittersRCV000581027 RCV001853867 RCV004001243

NM_024675.4(PALB2):c.3379T>C (p.Cys1127Arg)

SNV
Germline

Chr16:23603641

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Ovarian cancer
Hereditary breast ovarian cancer syndrome
Fanconi anemia complementation group N
Breast-ovarian cancer, familial, susceptibility to, 5
Pancreatic cancer, susceptibility to, 3

Criteria Provided
Conflicting Classifications

CA7963346

rs_767830005

11 SubmittersRCV000579960 RCV000701458 RCV001030414 RCV003153752 RCV005367434 RCV005019004

NM_000059.4(BRCA2):c.9442G>A (p.Ala3148Thr)

SNV
Germline

Chr13:32394874

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA387761589

rs_949790323

4 SubmittersRCV000580146 RCV002529094 RCV004802260

NM_007294.4(BRCA1):c.5422G>T (p.Val1808Leu)

SNV
Germline

Chr17:43047688

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA10590599

rs_1555574756

5 SubmittersRCV000580194 RCV000804227 RCV003459418 RCV003478305

NM_007294.4(BRCA1):c.5343A>C (p.Glu1781Asp)

SNV
Germline

Chr17:43049184

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA10590778

rs_1555575182

6 SubmittersRCV000581039 RCV000781018 RCV000804010 RCV001077241

NM_007294.4(BRCA1):c.4999A>G (p.Lys1667Glu)

SNV
Germline

Chr17:43067683

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Fanconi anemia, complementation group S
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10591522

rs_80357204

6 SubmittersRCV000579785 RCV001076926 RCV001229350 RCV005357722 RCV006250812

NM_000059.4(BRCA2):c.7033C>G (p.Gln2345Glu)

SNV
Germline

Chr13:32354886

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Familial cancer of breast
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA387738116

rs_886040685

6 SubmittersRCV000579918 RCV000805741 RCV002289850 RCV005000340 RCV004001245

NM_000059.4(BRCA2):c.7955T>G (p.Val2652Gly)

SNV
Germline

Chr13:32362672

Likely pathogenic

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
BRCA2-related cancer predisposition

Reviewed By Expert Panel

CA387747262

rs_1555286868

6 SubmittersRCV001211134 RCV004601208 RCV006260346

NM_007294.4(BRCA1):c.3913G>C (p.Asp1305His)

SNV
Germline

Chr17:43091618

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10594136

rs_1555586799

4 SubmittersRCV000580633 RCV005091467

NM_007294.4(BRCA1):c.3533G>C (p.Ser1178Thr)

SNV
Germline

Chr17:43091998

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
BRCA1-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA10594903

rs_1294360179

5 SubmittersRCV000579732 RCV003645053 RCV004802258

NM_007294.4(BRCA1):c.1489C>A (p.Pro497Thr)

SNV
Germline

Chr17:43094042

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10599070

rs_1555591695

3 SubmittersRCV000579767 RCV001212511

NM_007294.4(BRCA1):c.1096G>C (p.Asp366His)

SNV
Germline

Chr17:43094435

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 1
Fanconi anemia, complementation group S

Criteria Provided
Conflicting Classifications

CA10599866

rs_1289961661

7 SubmittersRCV000579920 RCV001302591 RCV003338671 RCV005357721

NM_007294.4(BRCA1):c.877A>C (p.Thr293Pro)

SNV
Germline

Chr17:43094654

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10600323

rs_1555592945

3 SubmittersRCV000579523 RCV003645056

NM_007294.4(BRCA1):c.3359T>A (p.Val1120Asp)

SNV
Germline

Chr17:43092172

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
not specified

Criteria Provided
Conflicting Classifications

CA10595262

rs_1361427704

6 SubmittersRCV000579400 RCV001035931 RCV003316752 RCV006268877

NM_007294.4(BRCA1):c.2682A>T (p.Lys894Asn)

SNV
Germline

Chr17:43092849

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10596635

rs_1131692093

3 SubmittersRCV000581110 RCV002530750

NM_007294.4(BRCA1):c.4006A>T (p.Ser1336Cys)

SNV
Germline

Chr17:43091525

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10593950

rs_976725810

5 SubmittersRCV000579559 RCV000805852 RCV001564750

NM_007294.4(BRCA1):c.701C>T (p.Thr234Ile)

SNV
Germline

Chr17:43094830

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10600684

rs_1555593290

5 SubmittersRCV000579970 RCV001057472

NM_007294.4(BRCA1):c.694G>T (p.Asp232Tyr)

SNV
Germline

Chr17:43094837

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10600699

rs_55975699

3 SubmittersRCV000580023 RCV001860037

NM_007294.4(BRCA1):c.758C>T (p.Ala253Val)

SNV
Germline

Chr17:43094773

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA10600566

rs_1555593177

7 SubmittersRCV000580159 RCV000985445 RCV001320781 RCV004787967

NM_007294.4(BRCA1):c.106T>A (p.Ser36Thr)

SNV
Germline

Chr17:43115754

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10601943

rs_905812561

5 SubmittersRCV000580607 RCV000637402 RCV001076581 RCV002227184

NM_007294.4(BRCA1):c.3601G>C (p.Gly1201Arg)

SNV
Germline

Chr17:43091930

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10594764

rs_55725337

4 SubmittersRCV000580336 RCV003645054 RCV004760631

NM_007294.4(BRCA1):c.1131C>G (p.Ser377Arg)

SNV
Germline

Chr17:43094400

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
BRCA1-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA10599795

rs_786203434

4 SubmittersRCV000579597 RCV001071973 RCV004802257

NM_000465.4(BARD1):c.1205C>A (p.Ser402Ter)

SNV
Germline

Chr2:214780669

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA64788006

rs_796666047

6 SubmittersRCV000584178 RCV000780952 RCV001042194

NM_000051.4(ATM):c.8011-18T>C

SNV
Germline

Chr11:108334951

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA6266261

rs_768522292

4 SubmittersRCV000583872 RCV002061692 RCV004592884 RCV006450249

NM_000059.4(BRCA2):c.1754A>G (p.Lys585Arg)

SNV
Germline

Chr13:32333232

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387765518

rs_1555282049

3 SubmittersRCV000582539 RCV002529218

NM_000059.4(BRCA2):c.2054A>T (p.Asp685Val)

SNV
Germline

Chr13:32336409

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified

Criteria Provided
Conflicting Classifications

CA387768987

rs_1555282420

5 SubmittersRCV000584011 RCV001853909 RCV002248797

NM_000059.4(BRCA2):c.2906A>G (p.Gln969Arg)

SNV
Germline

Chr13:32337261

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387774180

rs_1555282933

3 SubmittersRCV000581262 RCV006612411

NM_000059.4(BRCA2):c.2939A>G (p.Asp980Gly)

SNV
Germline

Chr13:32337294

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA387774296

rs_1250767974

5 SubmittersRCV000582501 RCV001044370 RCV001764704

NM_000059.4(BRCA2):c.3593A>G (p.Asn1198Ser)

SNV
Germline

Chr13:32337948

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA6940706

rs_780927790

4 SubmittersRCV000581441 RCV005091498 RCV005357743

NM_000059.4(BRCA2):c.3802T>A (p.Ser1268Thr)

SNV
Germline

Chr13:32338157

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA6940726

rs_751092504

3 SubmittersRCV000583146 RCV001853910

NM_000059.4(BRCA2):c.4790C>A (p.Ser1597Tyr)

SNV
Germline

Chr13:32339145

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387783236

rs_876660146

4 SubmittersRCV000584306 RCV000800220

NM_000059.4(BRCA2):c.2761A>G (p.Ile921Val)

SNV
Germline

Chr13:32337116

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387773662

rs_1555282836

4 SubmittersRCV000581752 RCV001224864

NM_000059.4(BRCA2):c.3090C>G (p.Phe1030Leu)

SNV
Germline

Chr13:32337445

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6940664

rs_756152752

5 SubmittersRCV000583902 RCV000687547 RCV006260363

NM_000059.4(BRCA2):c.3260C>T (p.Thr1087Ile)

SNV
Germline

Chr13:32337615

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
BRCA2-related cancer predisposition
Condition: not provided

Criteria Provided
Conflicting Classifications

CA387776013

rs_1555283123

8 SubmittersRCV000582950 RCV001226691 RCV003234785 RCV004802267 RCV005000347

NM_000059.4(BRCA2):c.3656T>C (p.Phe1219Ser)

SNV
Germline

Chr13:32338011

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA387777964

rs_1555283341

5 SubmittersRCV000582706 RCV001860074 RCV003459439

NM_000059.4(BRCA2):c.3725G>A (p.Ser1242Asn)

SNV
Germline

Chr13:32338080

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387778095

rs_1555283378

4 SubmittersRCV000584216 RCV002529220

NM_000059.4(BRCA2):c.3870C>A (p.Cys1290Ter)

SNV
Germline

Chr13:32338225

Pathogenic

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA387778704

rs_1555283445

3 SubmittersRCV000582374 RCV001390681 RCV002298698

NM_000059.4(BRCA2):c.4109G>T (p.Gly1370Val)

SNV
Germline

Chr13:32338464

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387779287

rs_587781406

4 SubmittersRCV000582735 RCV006463436

NM_000059.4(BRCA2):c.4490T>C (p.Val1497Ala)

SNV
Germline

Chr13:32338845

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387781541

rs_80358681

4 SubmittersRCV000582167 RCV002298699

NM_000059.4(BRCA2):c.7924T>C (p.Phe2642Leu)

SNV
Germline

Chr13:32362641

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387747194

rs_1555286856

3 SubmittersRCV000583322 RCV001860077

NM_000059.4(BRCA2):c.4919A>G (p.His1640Arg)

SNV
Germline

Chr13:32339274

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified

Criteria Provided
Conflicting Classifications

CA247508683

rs_373483754

5 SubmittersRCV000583557 RCV001223708 RCV004586807

NM_000059.4(BRCA2):c.8620G>A (p.Glu2874Lys)

SNV
Germline

Chr13:32371088

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA387752967

rs_397507996

5 SubmittersRCV000582840 RCV001047615 RCV004760633 RCV006268879

NM_000059.4(BRCA2):c.9502-9T>C

SNV
Germline

Chr13:32396889

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA247507909

rs_372042471

3 SubmittersRCV000584180 RCV002530791 RCV003237951

NM_000059.4(BRCA2):c.631+13A>G

SNV
Germline

Chr13:32326626

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA658683827

rs_1555281112

4 SubmittersRCV000581787 RCV000609415 RCV001442350

NM_024675.4(PALB2):c.3067C>T (p.Gln1023Ter)

SNV
Germline

Chr16:23621408

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Hereditary breast ovarian cancer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA395142961

rs_1555459386

4 SubmittersRCV000584638 RCV000803999 RCV001269180

NM_000059.4(BRCA2):c.1803A>C (p.Lys601Asn)

SNV
Germline

Chr13:32333281

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2
not specified

Criteria Provided
Conflicting Classifications

CA6940542

rs_768106492

9 SubmittersRCV000583149 RCV000637541 RCV001556198 RCV003493672 RCV004525979

NM_000059.4(BRCA2):c.2728C>T (p.His910Tyr)

SNV
Germline

Chr13:32337083

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified

Criteria Provided
Conflicting Classifications

CA387773593

rs_1555282812

5 SubmittersRCV000581736 RCV005091497 RCV005898573

NM_000059.4(BRCA2):c.8029G>T (p.Glu2677Ter)

SNV
Germline

Chr13:32363231

Pathogenic

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA387748934

rs_1555286958

2 SubmittersRCV000582544 RCV001389053

NM_000059.4(BRCA2):c.3220A>T (p.Ser1074Cys)

SNV
Germline

Chr13:32337575

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Familial cancer of breast
Condition: not provided
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA6940679

rs_145605603

8 SubmittersRCV000582140 RCV001051481 RCV002250664 RCV005250080 RCV004802266

NM_000059.4(BRCA2):c.3847G>A (p.Val1283Ile)

SNV
Germline

Chr13:32338202

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
BRCA2-related cancer predisposition
Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6940728

rs_754974533

7 SubmittersRCV000584376 RCV000811572 RCV004802269 RCV004791609 RCV005000348

NM_000059.4(BRCA2):c.9454G>T (p.Glu3152Ter)

SNV
Germline

Chr13:32394886

Pathogenic

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA387761663

rs_80359218

2 SubmittersRCV000582913 RCV002530790

NM_000059.4(BRCA2):c.9604C>T (p.Pro3202Ser)

SNV
Germline

Chr13:32397000

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA387763595

rs_1555289789

4 SubmittersRCV000582090 RCV000691367 RCV004001325

NM_000059.4(BRCA2):c.4113G>C (p.Gln1371His)

SNV
Germline

Chr13:32338468

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA387779298

rs_1555283563

5 SubmittersRCV000581592 RCV001232649 RCV004802270

NM_000059.4(BRCA2):c.9983T>G (p.Phe3328Cys)

SNV
Germline

Chr13:32398496

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA6941460

rs_770826575

3 SubmittersRCV000582534 RCV001058719 RCV002289860

NM_000059.4(BRCA2):c.5054C>G (p.Ser1685Ter)

SNV
Germline

Chr13:32339409

Pathogenic

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA387784027

rs_398122791

2 SubmittersRCV000582926 RCV000805797

NM_000059.4(BRCA2):c.6488A>G (p.Gln2163Arg)

SNV
Germline

Chr13:32340843

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387789478

rs_1555284720

3 SubmittersRCV000584465 RCV001322275

NM_002878.4(RAD51D):c.345G>A (p.Gln115=)

SNV
Germline

Chr17:35107366

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 4

Criteria Provided
Conflicting Classifications

CA499731862

rs_1555568469

4 SubmittersRCV000583256 RCV003483683 RCV004024644

NM_000059.4(BRCA2):c.9649-9T>G

SNV
Germline

Chr13:32398153

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
not specified
Breast-ovarian cancer, familial, susceptibility to, 2
Inherited breast cancer and ovarian cancer

Criteria Provided
Conflicting Classifications

CA6941436

rs_765352313

6 SubmittersRCV000581557 RCV000759692 RCV001084889 RCV001174725 RCV004001326 RCV005240234

NM_000059.4(BRCA2):c.3497T>C (p.Val1166Ala)

SNV
Germline

Chr13:32337852

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA6940701

rs_762886975

6 SubmittersRCV000581934 RCV001363535 RCV003237950 RCV004802268

NM_000059.4(BRCA2):c.3749A>T (p.Glu1250Val)

SNV
Germline

Chr13:32338104

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387778179

rs_56400215

3 SubmittersRCV000583002 RCV000824172

NM_000059.4(BRCA2):c.5770A>T (p.Ile1924Phe)

SNV
Germline

Chr13:32340125

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA387787102

rs_779020831

5 SubmittersRCV000581357 RCV001040894 RCV003478313

NM_000059.4(BRCA2):c.6916G>C (p.Ala2306Pro)

SNV
Germline

Chr13:32344632

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Familial cancer of breast
not specified

Criteria Provided
Conflicting Classifications

CA387792911

rs_730881550

5 SubmittersRCV000583812 RCV000800022 RCV002289859 RCV004596294

NM_000059.4(BRCA2):c.7468A>G (p.Ile2490Val)

SNV
Germline

Chr13:32356460

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387743199

rs_1555286235

3 SubmittersRCV000581510 RCV003645067

NM_007294.4(BRCA1):c.5198A>T (p.Asp1733Val)

SNV
Germline

Chr17:43057131

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA054223

rs_80357270

7 SubmittersRCV000581282 RCV001077015 RCV001342982 RCV001591348

NM_000059.4(BRCA2):c.8104G>A (p.Glu2702Lys)

SNV
Germline

Chr13:32363306

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Malignant tumor of breast
Condition: not provided

Criteria Provided
Conflicting Classifications

CA387749317

rs_186224762

5 SubmittersRCV000582650 RCV000802730 RCV001354239 RCV001584401

NM_000059.4(BRCA2):c.8351G>T (p.Arg2784Leu)

SNV
Germline

Chr13:32370421

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387752389

rs_80359076

4 SubmittersRCV000582573 RCV001284109 RCV003767300

NM_007294.4(BRCA1):c.3400G>A (p.Glu1134Lys)

SNV
Germline

Chr17:43092131

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10595178

rs_80357018

5 SubmittersRCV000583019 RCV000588879 RCV000806646

NM_000059.4(BRCA2):c.9018C>G (p.Tyr3006Ter)

SNV
Germline

Chr13:32379814

Pathogenic

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA387757478

rs_80359154

3 SubmittersRCV000583561 RCV001860079

NM_007294.4(BRCA1):c.1323A>G (p.Ile441Met)

SNV
Germline

Chr17:43094208

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10599406

rs_1555591935

5 SubmittersRCV000582632 RCV001044492

NM_007294.4(BRCA1):c.1037C>A (p.Pro346His)

SNV
Germline

Chr17:43094494

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10599985

rs_1555592620

3 SubmittersRCV000584626 RCV002295305

NM_007294.4(BRCA1):c.878C>T (p.Thr293Ile)

SNV
Germline

Chr17:43094653

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA10600319

rs_747172803

6 SubmittersRCV000583425 RCV001370800 RCV004592891 RCV006273934

NM_004360.5(CDH1):c.2165-19G>T

SNV
Germline

Chr16:68828155

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Hereditary diffuse gastric adenocarcinoma
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA658683965

rs_1555517632

5 SubmittersRCV000582043 RCV000605693 RCV002061793 RCV005638511

NM_007294.4(BRCA1):c.2723A>C (p.Glu908Ala)

SNV
Germline

Chr17:43092808

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10596548

rs_1064794969

5 SubmittersRCV000582231 RCV001284393 RCV002529215

NM_007294.4(BRCA1):c.2663A>G (p.His888Arg)

SNV
Germline

Chr17:43092868

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10596670

rs_876658843

3 SubmittersRCV000581709 RCV001346510

NM_007294.4(BRCA1):c.1309C>T (p.His437Tyr)

SNV
Germline

Chr17:43094222

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA057149

rs_759878392

5 SubmittersRCV000581830 RCV001295915 RCV003117353

NM_007294.4(BRCA1):c.2481A>G (p.Glu827=)

SNV
Germline

Chr17:43093050

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA290840072

rs_397508970

6 SubmittersRCV000581429 RCV000637920 RCV000759506 RCV004001313

NM_007294.4(BRCA1):c.2564A>T (p.Gln855Leu)

SNV
Germline

Chr17:43092967

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA058462

rs_768001441

3 SubmittersRCV000582745 RCV000706969

NM_007294.4(BRCA1):c.2709T>A (p.Cys903Ter)

SNV
Germline

Chr17:43092822

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Fanconi anemia, complementation group S
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA10596579

rs_1555589094

4 SubmittersRCV000585837 RCV000585811 RCV001867901 RCV004948457 RCV006260870

NM_002485.5(NBN):c.175C>T (p.Gln59Ter)

SNV
Germline

Chr8:89981520

Pathogenic/Likely pathogenic

Hereditary breast ovarian cancer syndrome
Microcephaly, normal intelligence and immunodeficiency
Hereditary cancer-predisposing syndrome
Aplastic anemia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA371662638

rs_1554568427

6 SubmittersRCV000586448 RCV000688264 RCV001013002 RCV003471944 RCV003133388

NM_000059.4(BRCA2):c.-15A>T

SNV
Germline

Chr13:32316446

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA658683801

rs_138705202

3 SubmittersRCV000588555 RCV001178828 RCV001455508

NM_000059.4(BRCA2):c.1103C>G (p.Ser368Ter)

SNV
Germline

Chr13:32332581

Pathogenic

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA387761567

rs_80358407

4 SubmittersRCV000590792 RCV000661666 RCV001017319

NM_000059.4(BRCA2):c.2734A>G (p.Thr912Ala)

SNV
Germline

Chr13:32337089

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387773607

rs_1555282813

4 SubmittersRCV000585991 RCV003157709 RCV003530086

NM_000059.4(BRCA2):c.4213A>G (p.Asn1405Asp)

SNV
Germline

Chr13:32338568

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary breast ovarian cancer syndrome
not specified
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387780264

rs_1555283633

6 SubmittersRCV000587921 RCV001042617 RCV001821711 RCV002331002

NM_000059.4(BRCA2):c.4288A>G (p.Thr1430Ala)

SNV
Germline

Chr13:32338643

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387780645

rs_1555283691

5 SubmittersRCV000588421 RCV001022215 RCV002530889

NM_000059.4(BRCA2):c.6097A>G (p.Ile2033Val)

SNV
Germline

Chr13:32340452

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6940928

rs_772846629

6 SubmittersRCV001024890 RCV001242746 RCV004002394 RCV005431783 RCV006260871

NM_000059.4(BRCA2):c.6131G>A (p.Gly2044Asp)

SNV
Germline

Chr13:32340486

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387788208

rs_56191579

5 SubmittersRCV000590164 RCV001024926 RCV001867904

NM_000059.4(BRCA2):c.7419T>A (p.Cys2473Ter)

SNV
Germline

Chr13:32355272

Pathogenic/Likely pathogenic

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA387741973

rs_1555286120

2 SubmittersRCV000589473 RCV003159990

NM_000059.4(BRCA2):c.8091C>A (p.Ser2697Arg)

SNV
Germline

Chr13:32363293

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387749268

rs_140782158

4 SubmittersRCV000586424 RCV001050615 RCV002420558

NM_000059.4(BRCA2):c.9634G>A (p.Gly3212Arg)

SNV
Germline

Chr13:32397030

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387763767

rs_55775473

3 SubmittersRCV000586809 RCV005091533

NM_000059.4(BRCA2):c.631+8T>C

SNV
Germline

Chr13:32326621

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified

Criteria Provided
Conflicting Classifications

CA658683826

rs_1555281111

4 SubmittersRCV000588341 RCV001086164 RCV001181523 RCV005407765

NM_000059.4(BRCA2):c.1202C>A (p.Ser401Ter)

SNV
Germline

Chr13:32332680

Pathogenic/Likely pathogenic

Hereditary breast ovarian cancer syndrome
Condition: not provided
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA387762066

rs_80358413

4 SubmittersRCV000587751 RCV003139885 RCV003471933

NM_000059.4(BRCA2):c.1648G>T (p.Glu550Ter)

SNV
Germline

Chr13:32333126

Likely pathogenic

Hereditary breast ovarian cancer syndrome

Criteria Provided
Single Submitter

CA387764993

rs_1555281999

1 SubmittersRCV000590498

NM_000059.4(BRCA2):c.2213G>A (p.Cys738Tyr)

SNV
Germline

Chr13:32336568

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA387770594

rs_1219265131

6 SubmittersRCV000587463 RCV001014811 RCV002530888 RCV004002392

NM_000059.4(BRCA2):c.2861A>G (p.Glu954Gly)

SNV
Germline

Chr13:32337216

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387773978

rs_1555282915

4 SubmittersRCV000589506 RCV000691430 RCV002438521

NM_000059.4(BRCA2):c.3247A>G (p.Asn1083Asp)

SNV
Germline

Chr13:32337602

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387775963

rs_777994248

4 SubmittersRCV000586777 RCV003645071 RCV003157711

NM_000059.4(BRCA2):c.5917A>C (p.Asn1973His)

SNV
Germline

Chr13:32340272

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387787523

rs_1555284460

6 SubmittersRCV000587760 RCV000791674 RCV001024680

NM_000059.4(BRCA2):c.6116T>G (p.Leu2039Ter)

SNV
Germline

Chr13:32340471

Pathogenic/Likely pathogenic

Hereditary breast ovarian cancer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA387788150

rs_1555284559

2 SubmittersRCV000588279

NM_000059.4(BRCA2):c.6268C>T (p.His2090Tyr)

SNV
Germline

Chr13:32340623

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387788967

rs_1405631299

6 SubmittersRCV000589502 RCV000773071 RCV001853971

NM_000059.4(BRCA2):c.6356A>T (p.Asn2119Ile)

SNV
Germline

Chr13:32340711

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387789139

rs_1555284650

3 SubmittersRCV000586871 RCV001853972 RCV003157720

NM_000059.4(BRCA2):c.6744T>A (p.His2248Gln)

SNV
Germline

Chr13:32341099

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387791117

rs_1555284842

5 SubmittersRCV000588646 RCV001066930 RCV001185319

NM_000059.4(BRCA2):c.6915G>A (p.Lys2305=)

SNV
Germline

Chr13:32344631

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA483275534

rs_1555285156

7 SubmittersRCV000587051 RCV000929536 RCV001025798 RCV001448843 RCV002272296 RCV004802280

NM_000059.4(BRCA2):c.9102G>C (p.Gln3034His)

SNV
Germline

Chr13:32379898

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA387757698

rs_1336395181

6 SubmittersRCV000586660 RCV000777058 RCV000795065 RCV004002397

NM_000059.4(BRCA2):c.9152C>A (p.Pro3051Gln)

SNV
Germline

Chr13:32380041

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387757912

rs_1555288537

4 SubmittersRCV000588349 RCV001018923 RCV000820082

NM_000059.4(BRCA2):c.1254A>C (p.Ser418=)

SNV
Germline

Chr13:32332732

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA483436508

rs_1052409595

4 SubmittersRCV000588164 RCV000985462 RCV002420557 RCV003767324

NM_000059.4(BRCA2):c.2951A>G (p.Glu984Gly)

SNV
Germline

Chr13:32337306

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA6940647

rs_767964776

6 SubmittersRCV000586715 RCV001867903 RCV002255465

NM_000059.4(BRCA2):c.425+3A>G

SNV
Germline

Chr13:32325187

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Familial cancer of breast
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 2
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA247487353

rs_932657676

10 SubmittersRCV000589863 RCV001022141 RCV001233483 RCV003459452 RCV005357773 RCV005620994

NM_000059.4(BRCA2):c.3419G>A (p.Ser1140Asn)

SNV
Germline

Chr13:32337774

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
not specified

Criteria Provided
Conflicting Classifications

CA387776510

rs_80358585

7 SubmittersRCV000589884 RCV000704802 RCV001020255 RCV005401503 RCV005898602

NM_000059.4(BRCA2):c.1816C>T (p.Pro606Ser)

SNV
Germline

Chr13:32333294

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387766024

rs_765924757

6 SubmittersRCV000585914 RCV000814790 RCV002413663

NM_000059.4(BRCA2):c.1939T>C (p.Cys647Arg)

SNV
Germline

Chr13:32336294

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387768352

rs_1555282367

6 SubmittersRCV000589864 RCV001054194 RCV001525794

NM_000059.4(BRCA2):c.5301A>G (p.Lys1767=)

SNV
Germline

Chr13:32339656

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA483438587

rs_1555284161

5 SubmittersRCV000586078 RCV001023889 RCV000975507 RCV005000359

NM_000059.4(BRCA2):c.4429A>G (p.Ile1477Val)

SNV
Germline

Chr13:32338784

Conflicting classifications of pathogenicity

not specified
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA387781283

rs_1159807733

7 SubmittersRCV000586178 RCV000637705 RCV001022464 RCV004002393 RCV005000358

NM_000059.4(BRCA2):c.5734G>A (p.Glu1912Lys)

SNV
Germline

Chr13:32340089

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387786929

rs_397507800

4 SubmittersRCV000588009 RCV001853970 RCV003157718

NM_000059.4(BRCA2):c.5867A>G (p.Asp1956Gly)

SNV
Germline

Chr13:32340222

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387787427

rs_1309562690

6 SubmittersRCV000589077 RCV001051475 RCV003157719

NM_000059.4(BRCA2):c.9839C>G (p.Pro3280Arg)

SNV
Germline

Chr13:32398352

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified

Criteria Provided
Conflicting Classifications

CA387766409

rs_80359246

5 SubmittersRCV000588196 RCV000704666 RCV002384281 RCV003321691

NM_000059.4(BRCA2):c.6454T>A (p.Ser2152Thr)

SNV
Germline

Chr13:32340809

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387789336

rs_1555284705

3 SubmittersRCV000587208 RCV002304217 RCV003157722

NM_000059.4(BRCA2):c.6760T>C (p.Phe2254Leu)

SNV
Germline

Chr13:32341115

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary breast ovarian cancer syndrome
not specified
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387791178

rs_1555284847

5 SubmittersRCV000590351 RCV000701143 RCV001001315 RCV003157723

NM_000059.4(BRCA2):c.8692T>G (p.Leu2898Val)

SNV
Germline

Chr13:32376729

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387754814

rs_1555288160

3 SubmittersRCV000586864 RCV000697605 RCV006362482

NM_007294.4(BRCA1):c.2953C>T (p.Pro985Ser)

SNV
Germline

Chr17:43092578

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10596090

rs_1555588649

4 SubmittersRCV000589591 RCV002532355 RCV003157730

NM_007294.4(BRCA1):c.2249T>C (p.Leu750Pro)

SNV
Germline

Chr17:43093282

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10597502

rs_1555590048

5 SubmittersRCV000587994 RCV002431745 RCV006463474

NM_007294.4(BRCA1):c.441+9A>G

SNV
Germline

Chr17:43104113

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
not specified

Criteria Provided
Conflicting Classifications

CA658684043

rs_1555596273

3 SubmittersRCV001418017 RCV001821713

NM_007194.4(CHEK2):c.908+1G>C

SNV
Germline

Chr22:28703504

Likely pathogenic

Hereditary breast ovarian cancer syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA411100868

rs_587781699

3 SubmittersRCV000589468 RCV001867911

NM_007294.4(BRCA1):c.2387C>G (p.Thr796Arg)

SNV
Germline

Chr17:43093144

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10597232

rs_80357364

3 SubmittersRCV000589991 RCV001369507 RCV003157728

NM_007294.4(BRCA1):c.2346T>A (p.Ser782Arg)

SNV
Germline

Chr17:43093185

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified

Criteria Provided
Conflicting Classifications

CA10597314

rs_1555589837

5 SubmittersRCV000588839 RCV000693241 RCV001185320 RCV003488709

NM_007294.4(BRCA1):c.1589A>G (p.Glu530Gly)

SNV
Germline

Chr17:43093942

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10598869

rs_1555591512

5 SubmittersRCV000589930 RCV000776381 RCV001867912

NM_058216.3(RAD51C):c.601C>G (p.Leu201Val)

SNV
Germline

Chr17:58703225

Conflicting classifications of pathogenicity

Condition: not provided
Fanconi anemia complementation group O
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 3
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA8677280

rs_531838785

8 SubmittersRCV000586663 RCV000808711 RCV000776221 RCV001122911 RCV003482150

NM_007294.4(BRCA1):c.5528C>T (p.Ala1843Val)

SNV
Germline

Chr17:43045742

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10590262

rs_730881447

7 SubmittersRCV000691407 RCV001076359 RCV001024228 RCV004701679 RCV006260876

NM_007294.4(BRCA1):c.3454G>C (p.Asp1152His)

SNV
Germline

Chr17:43092077

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA10595076

rs_80357175

7 SubmittersRCV000794896 RCV001178185 RCV001770537 RCV001731799 RCV004002447

NM_007294.4(BRCA1):c.3391G>A (p.Asp1131Asn)

SNV
Germline

Chr17:43092140

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10595197

rs_1555587816

4 SubmittersRCV000590319 RCV001325244 RCV003157731

NM_007294.4(BRCA1):c.3080G>C (p.Ser1027Thr)

SNV
Germline

Chr17:43092451

Conflicting classifications of pathogenicity

Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 1
Pancreatic cancer, susceptibility to, 4
Familial cancer of breast
Fanconi anemia, complementation group S
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA10595829

rs_80357386

11 SubmittersRCV000587381 RCV000764121 RCV001018505 RCV001053353 RCV001328037 RCV004002446

NM_007294.4(BRCA1):c.5333-18T>G

SNV
Germline

Chr17:43049212

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA658684045

rs_1555575227

2 SubmittersRCV000589060 RCV003645074

NM_007294.4(BRCA1):c.2447A>T (p.His816Leu)

SNV
Germline

Chr17:43093084

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10597115

rs_80357108

3 SubmittersRCV000589023 RCV001853989 RCV003157729

NM_007294.4(BRCA1):c.4013A>G (p.Lys1338Arg)

SNV
Germline

Chr17:43091518

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10593933

rs_1555586661

5 SubmittersRCV000589139 RCV001021661 RCV003483686 RCV005091546

NM_007294.4(BRCA1):c.3642G>C (p.Glu1214Asp)

SNV
Germline

Chr17:43091889

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10594684

rs_398122675

3 SubmittersRCV000587458 RCV000802342 RCV003157732

NM_007294.4(BRCA1):c.3042G>A (p.Met1014Ile)

SNV
Germline

Chr17:43092489

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10595909

rs_1555588493

5 SubmittersRCV000587781 RCV001018285 RCV001867913

NM_007294.4(BRCA1):c.2483G>T (p.Gly828Val)

SNV
Germline

Chr17:43093048

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10597035

rs_1555589578

5 SubmittersRCV000586074 RCV001525222 RCV002532354

NM_007294.4(BRCA1):c.2147G>C (p.Ser716Thr)

SNV
Germline

Chr17:43093384

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10597710

rs_1555590369

3 SubmittersRCV000588733 RCV002222188 RCV003157726

NM_007294.4(BRCA1):c.3309T>C (p.Cys1103=)

SNV
Germline

Chr17:43092222

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA500232650

rs_80357317

2 SubmittersRCV000594228 RCV005091562

NM_000059.4(BRCA2):c.7007+53G>A

SNV
Germline

Chr13:32346949

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
BRCA2-related disorder

Criteria Provided
Conflicting Classifications

CA247519786

rs_56014558

6 SubmittersRCV000611264 RCV000732059 RCV001511262 RCV002256414 RCV004533250

NM_000059.4(BRCA2):c.9087G>T (p.Ala3029=)

SNV
Germline

Chr13:32379883

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA483439884

rs_368576266

4 SubmittersRCV000604018 RCV002448851 RCV003767465 RCV004002492

NM_000059.4(BRCA2):c.-56C>A

SNV
Germline

Chr13:32315651

Conflicting classifications of pathogenicity

not specified
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA658798079

rs_1555279958

2 SubmittersRCV000605195 RCV001854149

NM_000059.4(BRCA2):c.476-11T>C

SNV
Germline

Chr13:32326231

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA658798099

rs_1555280973

5 SubmittersRCV000772392 RCV001447673 RCV001712688 RCV004002605

NM_000059.4(BRCA2):c.7595C>T (p.Pro2532Leu)

SNV
Germline

Chr13:32356587

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387743924

rs_967458408

3 SubmittersRCV000606559 RCV001026600 RCV001308784

NM_000059.4(BRCA2):c.7618-3T>C

SNV
Germline

Chr13:32357739

Conflicting classifications of pathogenicity

not specified
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA658798120

rs_1555286385

3 SubmittersRCV000606784 RCV001368759 RCV005520313

NM_000059.4(BRCA2):c.5388T>C (p.Asp1796=)

SNV
Germline

Chr13:32339743

Conflicting classifications of pathogenicity

not specified
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA483438684

rs_1555284205

5 SubmittersRCV000608482 RCV000979782 RCV001024015 RCV005000382

NM_007294.4(BRCA1):c.-19-7G>A

SNV
Germline

Chr17:43124122

Conflicting classifications of pathogenicity

not specified
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA626086885

rs_1415813169

3 SubmittersRCV000601725 RCV000924511 RCV002257854

NM_007294.4(BRCA1):c.5289G>A (p.Gly1763=)

SNV
Germline

Chr17:43051106

Conflicting classifications of pathogenicity

not specified
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
BRCA1-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA500143600

rs_1022076404

7 SubmittersRCV000611531 RCV000637969 RCV000771474 RCV004554811 RCV005000378

NM_007294.4(BRCA1):c.4485-8C>A

SNV
Germline

Chr17:43074529

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast and/or ovarian cancer
Uterine corpus endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA658798845

rs_397507234

5 SubmittersRCV000609609 RCV000772448 RCV001440497 RCV003150300 RCV005898897

NM_007294.4(BRCA1):c.1011A>G (p.Glu337=)

SNV
Germline

Chr17:43094520

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA500234038

rs_1555592670

6 SubmittersRCV000613817 RCV000758782 RCV001016995 RCV001476680

NM_000059.4(BRCA2):c.9649-1G>T

SNV
Germline

Chr13:32398161

Pathogenic/Likely pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary breast ovarian cancer syndrome
BRCA2-related cancer predisposition

Criteria Provided
Multiple Submitters
No Conflicts

CA387765053

rs_1555289898

6 SubmittersRCV000600110 RCV001724086 RCV002528808 RCV004807036

NM_000059.4(BRCA2):c.2399G>A (p.Gly800Asp)

SNV
Germline

Chr13:32336754

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
8 conditions

Criteria Provided
Conflicting Classifications

CA387771962

rs_276174821

8 SubmittersRCV000624979 RCV001296661 RCV001692232 RCV003157738 RCV005010596

NM_000059.4(BRCA2):c.3845C>T (p.Thr1282Ile)

SNV
Germline

Chr13:32338200

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
BRCA2-related cancer predisposition
Condition: not provided

Criteria Provided
Conflicting Classifications

CA387778591

rs_1555283423

8 SubmittersRCV000624982 RCV000692781 RCV002360483 RCV004802304 RCV006260887

NM_000059.4(BRCA2):c.6661A>T (p.Asn2221Tyr)

SNV
Germline

Chr13:32341016

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387790452

rs_1555284785

4 SubmittersRCV000625271 RCV001303623 RCV001692237 RCV003157740

NM_000059.4(BRCA2):c.331A>G (p.Asn111Asp)

SNV
Germline

Chr13:32325090

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387756534

rs_1555280839

3 SubmittersRCV000625753 RCV001564741 RCV003645078

NM_000059.4(BRCA2):c.2063A>G (p.Tyr688Cys)

SNV
Germline

Chr13:32336418

Conflicting classifications of pathogenicity

Melanoma
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA247500518

rs_28897713

5 SubmittersRCV000626573 RCV000807590 RCV000772733

NM_000059.4(BRCA2):c.5126A>G (p.Asp1709Gly)

SNV
Germline

Chr13:32339481

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA387784165

rs_786202836

6 SubmittersRCV000627120 RCV000637544 RCV004002760 RCV001764746

NM_007294.4(BRCA1):c.4358-2725T>C

SNV
Germline

Chr17:43079339

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Pilocytic astrocytoma

Criteria Provided
Conflicting Classifications

CA060047

rs_374519494

3 SubmittersRCV000627118 RCV000709469 RCV006452783

NM_000059.4(BRCA2):c.1388C>G (p.Thr463Arg)

SNV
Germline

Chr13:32332866

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified

Criteria Provided
Conflicting Classifications

CA6940517

rs_151011453

4 SubmittersRCV000637561 RCV001011217 RCV003330856

NM_000059.4(BRCA2):c.1910-6G>A

SNV
Germline

Chr13:32336259

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA658798095

rs_1555282344

3 SubmittersRCV000637995 RCV000658674 RCV006552561

NM_000059.4(BRCA2):c.2035A>G (p.Asn679Asp)

SNV
Germline

Chr13:32336390

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387768900

rs_786202617

4 SubmittersRCV000637405 RCV000772334

NM_000059.4(BRCA2):c.415C>T (p.Leu139Phe)

SNV
Germline

Chr13:32325174

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387756761

rs_1555280870

2 SubmittersRCV000637318 RCV002331144

NM_000059.4(BRCA2):c.475+2T>A

SNV
Germline

Chr13:32326152

Pathogenic

Hereditary breast ovarian cancer syndrome

Criteria Provided
Single Submitter

CA387757263

rs_1555280966

1 SubmittersRCV000637465

NM_000059.4(BRCA2):c.809C>T (p.Ser270Leu)

SNV
Germline

Chr13:32332287

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA387760390

rs_276174902

5 SubmittersRCV000637717 RCV000772854 RCV003238794

NM_000059.4(BRCA2):c.959T>C (p.Leu320Pro)

SNV
Germline

Chr13:32332437

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA387760880

rs_1334767632

4 SubmittersRCV000637613 RCV002386029 RCV003607339

NM_000059.4(BRCA2):c.2306T>C (p.Leu769Pro)

SNV
Germline

Chr13:32336661

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387771352

rs_1555282603

2 SubmittersRCV000637727 RCV003157791

NM_000059.4(BRCA2):c.1186T>A (p.Ser396Thr)

SNV
Germline

Chr13:32332664

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387762004

rs_1555281765

2 SubmittersRCV000637756 RCV003157796

NM_000059.4(BRCA2):c.1234C>T (p.Pro412Ser)

SNV
Germline

Chr13:32332712

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387762204

rs_1555281787

3 SubmittersRCV000637474 RCV001010473

NM_000059.4(BRCA2):c.1517T>C (p.Phe506Ser)

SNV
Germline

Chr13:32332995

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
8 conditions

Criteria Provided
Conflicting Classifications

CA387764543

rs_1249900164

5 SubmittersRCV000637551 RCV001570107 RCV002388048 RCV002492982

NM_000059.4(BRCA2):c.1551T>A (p.Asn517Lys)

SNV
Germline

Chr13:32333029

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387764664

rs_760647691

2 SubmittersRCV000637356 RCV003157748

NM_000059.4(BRCA2):c.2398G>T (p.Gly800Cys)

SNV
Germline

Chr13:32336753

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387771953

rs_431825297

3 SubmittersRCV000637446 RCV003157755

NM_000059.4(BRCA2):c.1588A>G (p.Lys530Glu)

SNV
Germline

Chr13:32333066

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified

Criteria Provided
Conflicting Classifications

CA387764787

rs_879255325

4 SubmittersRCV000637813 RCV003157801 RCV005900174

NM_000059.4(BRCA2):c.3284A>G (p.Gln1095Arg)

SNV
Germline

Chr13:32337639

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387776104

rs_1555283143

2 SubmittersRCV000637692 RCV003157788

NM_000059.4(BRCA2):c.3475T>C (p.Cys1159Arg)

SNV
Germline

Chr13:32337830

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387776824

rs_886037814

5 SubmittersRCV000637617 RCV000989022 RCV001186730

NM_000059.4(BRCA2):c.1882C>T (p.Pro628Ser)

SNV
Germline

Chr13:32333360

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Condition: not provided
not specified
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387766670

rs_1163156807

6 SubmittersRCV000637807 RCV000758869 RCV000781045 RCV002406371

NM_000059.4(BRCA2):c.3885A>C (p.Gln1295His)

SNV
Germline

Chr13:32338240

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA387778752

rs_876659864

4 SubmittersRCV000637593 RCV003157771 RCV006260926

NM_000059.4(BRCA2):c.4033G>A (p.Asp1345Asn)

SNV
Germline

Chr13:32338388

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387779070

rs_1555283516

3 SubmittersRCV000637578 RCV002325232

NM_000059.4(BRCA2):c.2468C>A (p.Ala823Asp)

SNV
Germline

Chr13:32336823

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387772354

rs_1555282694

2 SubmittersRCV000637787 RCV003157799

NM_000059.4(BRCA2):c.2627A>G (p.Asn876Ser)

SNV
Germline

Chr13:32336982

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA247502734

rs_997313713

7 SubmittersRCV000985484 RCV000637455 RCV002424404 RCV006633933

NM_000059.4(BRCA2):c.4359A>T (p.Lys1453Asn)

SNV
Germline

Chr13:32338714

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387780960

rs_774446640

2 SubmittersRCV000637488 RCV003157760

NM_000059.4(BRCA2):c.2998A>G (p.Ile1000Val)

SNV
Germline

Chr13:32337353

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387774656

rs_1555282999

4 SubmittersRCV003478361 RCV003157768 RCV000637546

NM_000059.4(BRCA2):c.5392A>G (p.Asn1798Asp)

SNV
Germline

Chr13:32339747

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387785272

rs_1555284208

4 SubmittersRCV000637775 RCV001186733

NM_000059.4(BRCA2):c.5606G>A (p.Ser1869Asn)

SNV
Germline

Chr13:32339961

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified

Criteria Provided
Conflicting Classifications

CA387786072

rs_1555284296

5 SubmittersRCV000637799 RCV001024317 RCV002268228

NM_000059.4(BRCA2):c.3409T>A (p.Leu1137Met)

SNV
Germline

Chr13:32337764

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA247504958

rs_1054724641

4 SubmittersRCV000637336 RCV003157746 RCV004702228

NM_000059.4(BRCA2):c.3463A>C (p.Thr1155Pro)

SNV
Germline

Chr13:32337818

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387776750

rs_1555283257

3 SubmittersRCV000637456 RCV002334085

NM_000059.4(BRCA2):c.5902T>C (p.Ser1968Pro)

SNV
Germline

Chr13:32340257

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387787498

rs_1555284455

4 SubmittersRCV000637778 RCV001186734

NM_000059.4(BRCA2):c.3481G>A (p.Asp1161Asn)

SNV
Germline

Chr13:32337836

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA387776859

rs_1555283261

3 SubmittersRCV000637777 RCV003157797 RCV004003851

NM_000059.4(BRCA2):c.4094G>C (p.Cys1365Ser)

SNV
Germline

Chr13:32338449

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387779231

rs_80358657

3 SubmittersRCV000637712 RCV002325233

NM_000059.4(BRCA2):c.4162A>C (p.Thr1388Pro)

SNV
Germline

Chr13:32338517

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387780044

rs_1555283603

2 SubmittersRCV000637738 RCV003157793

NM_000059.4(BRCA2):c.4545G>T (p.Lys1515Asn)

SNV
Germline

Chr13:32338900

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387781765

rs_1555283835

2 SubmittersRCV000637587 RCV003157770

NM_000059.4(BRCA2):c.4749T>G (p.Ile1583Met)

SNV
Germline

Chr13:32339104

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387783080

rs_1555283929

2 SubmittersRCV000637647 RCV003157779

NM_000059.4(BRCA2):c.4889C>T (p.Ser1630Leu)

SNV
Germline

Chr13:32339244

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387783518

rs_80358711

3 SubmittersRCV000637475 RCV003157759

NM_000059.4(BRCA2):c.6731A>G (p.Lys2244Arg)

SNV
Germline

Chr13:32341086

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387791074

rs_1555284837

2 SubmittersRCV000637804 RCV003157800

NM_000059.4(BRCA2):c.6782A>G (p.Glu2261Gly)

SNV
Germline

Chr13:32341137

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387791272

rs_1555284854

2 SubmittersRCV000637558 RCV003157769

NM_000059.4(BRCA2):c.5271T>A (p.Tyr1757Ter)

SNV
Germline

Chr13:32339626

Pathogenic/Likely pathogenic

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Multiple Submitters
No Conflicts

CA387784744

rs_1555284139

4 SubmittersRCV000637580 RCV001023837 RCV003234786

NM_000059.4(BRCA2):c.5459G>C (p.Cys1820Ser)

SNV
Germline

Chr13:32339814

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387785631

rs_1555284235

2 SubmittersRCV000637622 RCV003157776

NM_000059.4(BRCA2):c.5851A>G (p.Ser1951Gly)

SNV
Germline

Chr13:32340206

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387787395

rs_1212547389

3 SubmittersRCV000637445 RCV003493687 RCV003157754

NM_000059.4(BRCA2):c.5884A>G (p.Ile1962Val)

SNV
Germline

Chr13:32340239

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA6940908

rs_747406932

4 SubmittersRCV000656611 RCV000637377 RCV002358791

NM_000059.4(BRCA2):c.5890A>C (p.Lys1964Gln)

SNV
Germline

Chr13:32340245

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387787475

rs_1555284445

2 SubmittersRCV000637633 RCV003157777

NM_000059.4(BRCA2):c.6278A>T (p.His2093Leu)

SNV
Germline

Chr13:32340633

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387788986

rs_1218113889

3 SubmittersRCV000637524 RCV002358792

NM_000059.4(BRCA2):c.7007+2T>C

SNV
Germline

Chr13:32346898

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387793208

rs_886040937

4 SubmittersRCV000637553 RCV001724110 RCV002377382

NM_000059.4(BRCA2):c.7008C>A (p.Arg2336=)

SNV
Germline

Chr13:32354861

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA483275974

rs_1555285975

2 SubmittersRCV000637897 RCV004723007

NM_000059.4(BRCA2):c.8562T>A (p.Tyr2854Ter)

SNV
Germline

Chr13:32371030

Pathogenic

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA387752802

rs_786201333

2 SubmittersRCV000637354 RCV003303008

NM_000059.4(BRCA2):c.9151C>A (p.Pro3051Thr)

SNV
Germline

Chr13:32380040

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
BRCA2-related cancer predisposition
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387757909

rs_1555288536

3 SubmittersRCV000637791 RCV004802317 RCV005532709

NM_000059.4(BRCA2):c.10114G>A (p.Ala3372Thr)

SNV
Germline

Chr13:32398627

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA387768044

rs_1555290046

3 SubmittersRCV000637769 RCV003303010 RCV004003850

NM_000059.4(BRCA2):c.516+2T>C

SNV
Germline

Chr13:32326284

Pathogenic

Hereditary breast ovarian cancer syndrome

Criteria Provided
Single Submitter

CA387757754

rs_397507764

2 SubmittersRCV000637550

NM_000059.4(BRCA2):c.899T>G (p.Val300Gly)

SNV
Germline

Chr13:32332377

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387760677

rs_1555281625

2 SubmittersRCV000637733 RCV003157792

NM_000059.4(BRCA2):c.1052A>T (p.Lys351Ile)

SNV
Germline

Chr13:32332530

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387761288

rs_1555281710

3 SubmittersRCV000637696 RCV001186732

NM_000059.4(BRCA2):c.1415A>G (p.Gln472Arg)

SNV
Germline

Chr13:32332893

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387764207

rs_1555281903

2 SubmittersRCV000637543 RCV003157767

NM_000059.4(BRCA2):c.1436A>C (p.Asp479Ala)

SNV
Germline

Chr13:32332914

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387764286

rs_1555281910

2 SubmittersRCV000637335 RCV003157745

NM_000059.4(BRCA2):c.1490C>G (p.Ser497Ter)

SNV
Germline

Chr13:32332968

Pathogenic

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
BRCA2-related cancer predisposition

Criteria Provided
Multiple Submitters
No Conflicts

CA387764450

rs_1064794018

4 SubmittersRCV000637545 RCV000774812 RCV004802312

NM_000059.4(BRCA2):c.1594G>C (p.Glu532Gln)

SNV
Germline

Chr13:32333072

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA6940529

rs_138734772

3 SubmittersRCV000637607 RCV003157774

NM_000059.4(BRCA2):c.1728T>A (p.Asn576Lys)

SNV
Germline

Chr13:32333206

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified

Criteria Provided
Conflicting Classifications

CA387765371

rs_1555282035

5 SubmittersRCV000637460 RCV002406369 RCV002509483

NM_000059.4(BRCA2):c.1820A>G (p.Lys607Arg)

SNV
Germline

Chr13:32333298

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA387766073

rs_55962656

6 SubmittersRCV000637739 RCV001013305 RCV001823155 RCV001844207 RCV004003848

NM_000059.4(BRCA2):c.2836G>T (p.Asp946Tyr)

SNV
Germline

Chr13:32337191

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA387773871

rs_80358534

3 SubmittersRCV000637458 RCV003157757 RCV005000417

NM_000059.4(BRCA2):c.2842G>A (p.Val948Ile)

SNV
Germline

Chr13:32337197

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387773896

rs_1555282901

4 SubmittersRCV000637414 RCV001016754

NM_000059.4(BRCA2):c.3002C>G (p.Ser1001Ter)

SNV
Germline

Chr13:32337357

Pathogenic

Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA387774682

rs_1555283001

3 SubmittersRCV000637719 RCV002469227 RCV003352955

NM_000059.4(BRCA2):c.3184C>T (p.Pro1062Ser)

SNV
Germline

Chr13:32337539

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA387775836

rs_1555283083

4 SubmittersRCV000637707 RCV001019046 RCV004003847

NM_000059.4(BRCA2):c.3323A>C (p.Lys1108Thr)

SNV
Germline

Chr13:32337678

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group D1
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA6940687

rs_765232270

5 SubmittersRCV000637783 RCV003157798 RCV003338700 RCV005357846

NM_000059.4(BRCA2):c.3472G>A (p.Glu1158Lys)

SNV
Germline

Chr13:32337827

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387776802

rs_1555283258

2 SubmittersRCV000637537 RCV003157764

NM_000059.4(BRCA2):c.3610G>T (p.Ala1204Ser)

SNV
Germline

Chr13:32337965

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA387777536

rs_1555283309

6 SubmittersRCV000637609 RCV002458024 RCV003144409

NM_000059.4(BRCA2):c.4327T>C (p.Phe1443Leu)

SNV
Germline

Chr13:32338682

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA387780838

rs_1555283725

5 SubmittersRCV000637649 RCV003157780 RCV004808816 RCV005357844

NM_000059.4(BRCA2):c.4337T>C (p.Ile1446Thr)

SNV
Germline

Chr13:32338692

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387780878

rs_1555283730

3 SubmittersRCV000637694 RCV000758895 RCV003157789

NM_000059.4(BRCA2):c.4396T>A (p.Leu1466Ile)

SNV
Germline

Chr13:32338751

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
8 conditions
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA387781117

rs_1555283763

5 SubmittersRCV000637538 RCV002499068 RCV003157765 RCV004003844 RCV005000418

NM_000059.4(BRCA2):c.4454T>G (p.Ile1485Arg)

SNV
Germline

Chr13:32338809

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387781386

rs_1555283790

6 SubmittersRCV000637514 RCV000989030 RCV000985526 RCV002331145

NM_000059.4(BRCA2):c.4501A>T (p.Asn1501Tyr)

SNV
Germline

Chr13:32338856

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387781582

rs_1555283811

2 SubmittersRCV000637512 RCV003157762

NM_000059.4(BRCA2):c.4789T>G (p.Ser1597Ala)

SNV
Germline

Chr13:32339144

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387783235

rs_1555283935

3 SubmittersRCV000637772 RCV002334089

NM_000059.4(BRCA2):c.4900T>C (p.Phe1634Leu)

SNV
Germline

Chr13:32339255

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387783553

rs_1555283982

2 SubmittersRCV000637663 RCV003157783

NM_000059.4(BRCA2):c.4952C>G (p.Pro1651Arg)

SNV
Germline

Chr13:32339307

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
not specified
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387783762

rs_565268514

5 SubmittersRCV000637644 RCV001192450 RCV003157778

NM_000059.4(BRCA2):c.5432A>C (p.Glu1811Ala)

SNV
Germline

Chr13:32339787

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA387785483

rs_1555284221

5 SubmittersRCV000637592 RCV001186729 RCV004003845

NM_000059.4(BRCA2):c.5872T>C (p.Cys1958Arg)

SNV
Germline

Chr13:32340227

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387787438

rs_1555284436

3 SubmittersRCV000637594 RCV003157772

NM_000059.4(BRCA2):c.6415G>T (p.Glu2139Ter)

SNV
Germline

Chr13:32340770

Pathogenic/Likely pathogenic

Hereditary breast ovarian cancer syndrome
8 conditions
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA387789266

rs_763639231

3 SubmittersRCV000637421 RCV005010618 RCV006552560

NM_000059.4(BRCA2):c.8098A>G (p.Ile2700Val)

SNV
Germline

Chr13:32363300

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
BRCA2-related cancer predisposition
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6941187

rs_80359053

5 SubmittersRCV000637425 RCV000773103 RCV004802311 RCV006260925

NM_000059.4(BRCA2):c.8332-2A>C

SNV
Germline

Chr13:32370400

Likely pathogenic

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA387752308

rs_587782774

2 SubmittersRCV000637339 RCV005306107

NM_000059.4(BRCA2):c.328C>A (p.Pro110Thr)

SNV
Germline

Chr13:32325087

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA387756520

rs_1555280838

3 SubmittersRCV000637426 RCV001019705 RCV004777786

NM_000059.4(BRCA2):c.8713T>C (p.Tyr2905His)

SNV
Germline

Chr13:32376750

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA387754916

rs_1555288170

5 SubmittersRCV000637750 RCV003478363 RCV004601231 RCV004802316

NM_000059.4(BRCA2):c.681T>C (p.Ala227=)

SNV
Germline

Chr13:32329492

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA483274260

rs_1478233429

3 SubmittersRCV000637588 RCV004948505

NM_000059.4(BRCA2):c.794-6T>C

SNV
Germline

Chr13:32332266

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA658798112

rs_1555281587

2 SubmittersRCV000637950 RCV005357847

NM_000059.4(BRCA2):c.8954-1G>A

SNV
Germline

Chr13:32379749

Pathogenic/Likely pathogenic

Hereditary breast ovarian cancer syndrome
Malignant tumor of breast
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Multiple Submitters
No Conflicts

CA387757355

rs_1555288435

7 SubmittersRCV000637479 RCV001358060 RCV003472000 RCV004601229 RCV005601063

NM_000059.4(BRCA2):c.978C>G (p.Ser326Arg)

SNV
Germline

Chr13:32332456

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA387760945

rs_28897706

6 SubmittersRCV000637859 RCV002377386 RCV002469228 RCV003478365

NM_000059.4(BRCA2):c.1233A>G (p.Ile411Met)

SNV
Germline

Chr13:32332711

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA387762198

rs_1555281784

4 SubmittersRCV000637579 RCV001010467 RCV003314631

NM_000059.4(BRCA2):c.1987T>C (p.Phe663Leu)

SNV
Germline

Chr13:32336342

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA387768631

rs_1555282387

3 SubmittersRCV000637323 RCV003157742 RCV004003838

NM_000059.4(BRCA2):c.2111C>T (p.Pro704Leu)

SNV
Germline

Chr13:32336466

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA6940581

rs_768323836

3 SubmittersRCV000637734 RCV002420715

NM_000059.4(BRCA2):c.2489A>T (p.Asn830Ile)

SNV
Germline

Chr13:32336844

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387772405

rs_786202809

4 SubmittersRCV000637393 RCV001756058 RCV002424403

NM_000059.4(BRCA2):c.2527G>A (p.Ala843Thr)

SNV
Germline

Chr13:32336882

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387772480

rs_1555282730

2 SubmittersRCV000637751 RCV003157795

NM_000059.4(BRCA2):c.3779T>G (p.Leu1260Ter)

SNV
Germline

Chr13:32338134

Pathogenic

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Single Submitter

CA387778317

rs_1555283397

2 SubmittersRCV000637372 RCV000663247

NM_000059.4(BRCA2):c.3809T>C (p.Val1270Ala)

SNV
Germline

Chr13:32338164

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387778444

rs_1555283403

3 SubmittersRCV000637650 RCV003157781

NM_000059.4(BRCA2):c.4154C>G (p.Ser1385Ter)

SNV
Germline

Chr13:32338509

Pathogenic/Likely pathogenic

Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA387780011

rs_886038101

7 SubmittersRCV000637324 RCV002223894 RCV002272311 RCV004568400 RCV004948502

NM_020937.4(FANCM):c.5026G>A (p.Glu1676Lys)

SNV
Germline

Chr14:45189048

Conflicting classifications of pathogenicity

Fanconi anemia
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7169893

rs_769919966

3 SubmittersRCV000631000 RCV001030553 RCV001797116

NM_000059.4(BRCA2):c.4433T>G (p.Leu1478Arg)

SNV
Germline

Chr13:32338788

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387781303

rs_1382689372

2 SubmittersRCV000637608 RCV003157775

NM_000059.4(BRCA2):c.4876A>C (p.Asn1626His)

SNV
Germline

Chr13:32339231

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387783477

rs_1555283968

3 SubmittersRCV000637532 RCV002331146

NM_000059.4(BRCA2):c.5075G>A (p.Trp1692Ter)

SNV
Germline

Chr13:32339430

Pathogenic

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA387784070

rs_1555284058

3 SubmittersRCV000637341 RCV003139964 RCV004948503

NM_000059.4(BRCA2):c.6233G>A (p.Gly2078Glu)

SNV
Germline

Chr13:32340588

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387788896

rs_769883812

3 SubmittersRCV000637800 RCV002360547

NM_000059.4(BRCA2):c.6409A>G (p.Asn2137Asp)

SNV
Germline

Chr13:32340764

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA387789256

rs_1555284672

3 SubmittersRCV000637665 RCV003157784 RCV004768491

NM_000059.4(BRCA2):c.6649A>G (p.Lys2217Glu)

SNV
Germline

Chr13:32341004

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387790385

rs_1555284779

3 SubmittersRCV000637437 RCV003157753

NM_000059.4(BRCA2):c.8342A>T (p.Asn2781Ile)

SNV
Germline

Chr13:32370412

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 2
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA387752356

rs_1434821822

9 SubmittersRCV000637364 RCV000772450 RCV002477402 RCV004568401 RCV004808815 RCV004802309

NM_000059.4(BRCA2):c.8954-11T>A

SNV
Germline

Chr13:32379739

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA658798072

rs_1555288427

2 SubmittersRCV000637834 RCV001805769

NM_000059.4(BRCA2):c.9548T>C (p.Ile3183Thr)

SNV
Germline

Chr13:32396944

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast and/or ovarian cancer
Hereditary cancer-predisposing syndrome
not specified
Breast-ovarian cancer, familial, susceptibility to, 2
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA6941411

rs_755201475

7 SubmittersRCV000637697 RCV000735628 RCV000773162 RCV001193284 RCV001823154 RCV005357845

NM_000057.4(BLM):c.4022C>T (p.Ala1341Val)

SNV
Germline

Chr15:90811352

Conflicting classifications of pathogenicity

Bloom syndrome
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7739175

rs_201149857

5 SubmittersRCV000628645 RCV001030462 RCV001021691 RCV006260899

NM_007294.4(BRCA1):c.5407-9G>A

SNV
Germline

Chr17:43047712

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA054942

rs_551078372

6 SubmittersRCV000637809 RCV000758845 RCV001077355 RCV004948507 RCV005861148

NM_007294.4(BRCA1):c.5056C>T (p.His1686Tyr)

SNV
Germline

Chr17:43067626

Likely pathogenic

Hereditary breast ovarian cancer syndrome
Pancreatic cancer, susceptibility to, 4
Familial cancer of breast
Fanconi anemia, complementation group S
Breast-ovarian cancer, familial, susceptibility to, 1
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Pancreatic cancer, susceptibility to, 4
Fanconi anemia, complementation group S
Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
BRCA1-related cancer predisposition

Reviewed By Expert Panel

CA10591407

rs_1555579648

9 SubmittersRCV000637812 RCV000765358 RCV001076299 RCV001186735 RCV005019058 RCV005231210 RCV005628830

NM_007294.4(BRCA1):c.3800T>G (p.Leu1267Ter)

SNV
Germline

Chr17:43091731

Pathogenic

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1

Reviewed By Expert Panel

CA10594370

rs_587782190

2 SubmittersRCV000637806 RCV000661211

NM_007294.4(BRCA1):c.3750G>T (p.Glu1250Asp)

SNV
Germline

Chr17:43091781

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10594471

rs_145903082

3 SubmittersRCV000637671 RCV003157785

NM_007294.4(BRCA1):c.1685T>C (p.Ile562Thr)

SNV
Germline

Chr17:43093846

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10598660

rs_1555591375

3 SubmittersRCV000637496 RCV001524262

NM_007294.4(BRCA1):c.1624A>G (p.Asn542Asp)

SNV
Germline

Chr17:43093907

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10598793

rs_1555591461

3 SubmittersRCV000637565 RCV002404782

NM_007294.4(BRCA1):c.1187A>G (p.Asp396Gly)

SNV
Germline

Chr17:43094344

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10599677

rs_1555592280

2 SubmittersRCV000637457 RCV003157756

NM_007294.4(BRCA1):c.704A>G (p.Asn235Ser)

SNV
Germline

Chr17:43094827

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA10600679

rs_1555593283

4 SubmittersRCV000637327 RCV003157743 RCV004003839

NM_007294.4(BRCA1):c.53T>G (p.Met18Arg)

SNV
Germline

Chr17:43124044

Likely pathogenic

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Multiple Submitters
No Conflicts

CA10602052

rs_80356929

3 SubmittersRCV000637401 RCV001072375

NM_007294.4(BRCA1):c.5236C>G (p.His1746Asp)

SNV
Germline

Chr17:43057093

Likely pathogenic

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
BRCA1-related disorder
BRCA1-related cancer predisposition

Reviewed By Expert Panel

CA10591069

rs_80357146

7 SubmittersRCV000637721 RCV001072554 RCV002334088 RCV003478362 RCV004731003 RCV005628829

NM_007294.4(BRCA1):c.4897A>C (p.Ser1633Arg)

SNV
Germline

Chr17:43071017

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA10591733

rs_1555580711

3 SubmittersRCV000637623 RCV001023212 RCV001073122

NM_007294.4(BRCA1):c.4676-2A>C

SNV
Germline

Chr17:43071240

Likely pathogenic

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Single Submitter

CA10592158

rs_80358096

2 SubmittersRCV000637605 RCV003493689

NM_007294.4(BRCA1):c.4039A>T (p.Arg1347Ter)

SNV
Germline

Chr17:43091492

Pathogenic

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Multiple Submitters
No Conflicts

CA10593880

rs_28897689

4 SubmittersRCV000637508 RCV000776976 RCV004771483

NM_007294.4(BRCA1):c.3791A>G (p.Lys1264Arg)

SNV
Germline

Chr17:43091740

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10594389

rs_1555587039

2 SubmittersRCV000637412 RCV003157752

NM_007294.4(BRCA1):c.3548A>T (p.Lys1183Ile)

SNV
Germline

Chr17:43091983

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA10594869

rs_16942

5 SubmittersRCV000637591 RCV000776822 RCV005235453

NM_007294.4(BRCA1):c.3344A>T (p.Glu1115Val)

SNV
Germline

Chr17:43092187

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10595285

rs_1555587933

3 SubmittersRCV000637390 RCV001020046

NM_007294.4(BRCA1):c.3238T>G (p.Leu1080Val)

SNV
Germline

Chr17:43092293

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA10595506

rs_754597283

4 SubmittersRCV000637367 RCV003157749 RCV004003840

NM_007294.4(BRCA1):c.3200A>G (p.Asn1067Ser)

SNV
Germline

Chr17:43092331

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
BRCA1-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA10595581

rs_1555588214

4 SubmittersRCV000637610 RCV001019158 RCV004802314

NM_007294.4(BRCA1):c.3194A>T (p.Asp1065Val)

SNV
Germline

Chr17:43092337

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10595596

rs_1555588228

2 SubmittersRCV000637656 RCV003157782

NM_007294.4(BRCA1):c.2985G>T (p.Lys995Asn)

SNV
Germline

Chr17:43092546

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10596027

rs_1555588591

2 SubmittersRCV000637726 RCV003157790

NM_007294.4(BRCA1):c.5363G>C (p.Gly1788Ala)

SNV
Germline

Chr17:43049164

Likely pathogenic

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Single Submitter

CA10590739

rs_80357069

4 SubmittersRCV000637802 RCV001076846

NM_007294.4(BRCA1):c.2816T>C (p.Val939Ala)

SNV
Germline

Chr17:43092715

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10596359

rs_1555588894

7 SubmittersRCV000637329 RCV000773237 RCV001294024 RCV001766361

NM_007294.4(BRCA1):c.2728C>G (p.Gln910Glu)

SNV
Germline

Chr17:43092803

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10596535

rs_397509004

3 SubmittersRCV000637654 RCV002458025

NM_007294.4(BRCA1):c.2564A>G (p.Gln855Arg)

SNV
Germline

Chr17:43092967

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10596864

rs_768001441

3 SubmittersRCV000637557 RCV002424405

NM_007294.4(BRCA1):c.2217A>C (p.Lys739Asn)

SNV
Germline

Chr17:43093314

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10597564

rs_200521980

2 SubmittersRCV000637595 RCV003157773

NM_007294.4(BRCA1):c.5269G>A (p.Asp1757Asn)

SNV
Germline

Chr17:43057060

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
not specified
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10591017

rs_863224764

4 SubmittersRCV000637363 RCV001072596 RCV001192498 RCV002334084

NM_007294.4(BRCA1):c.2174G>C (p.Ser725Thr)

SNV
Germline

Chr17:43093357

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10597655

rs_1555590284

2 SubmittersRCV000637333 RCV003157744

NM_007294.4(BRCA1):c.1934C>G (p.Ser645Cys)

SNV
Germline

Chr17:43093597

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10598158

rs_80357129

5 SubmittersRCV000637408 RCV001013643 RCV004003842 RCV005000416

NM_007294.4(BRCA1):c.1701T>G (p.Asn567Lys)

SNV
Germline

Chr17:43093830

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA10598622

rs_1555591359

6 SubmittersRCV000637745 RCV002509486 RCV003157794 RCV003317311 RCV004003849

NM_007294.4(BRCA1):c.1620G>C (p.Glu540Asp)

SNV
Germline

Chr17:43093911

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10598803

rs_1555591465

3 SubmittersRCV000637540 RCV003157766

NM_007294.4(BRCA1):c.1538A>G (p.His513Arg)

SNV
Germline

Chr17:43093993

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10598976

rs_1356078500

2 SubmittersRCV000637676 RCV003157786

NM_007294.4(BRCA1):c.1142A>G (p.Lys381Arg)

SNV
Germline

Chr17:43094389

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Condition: not provided
not specified
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10599774

rs_1555592379

5 SubmittersRCV000637403 RCV001591422 RCV003330855 RCV003157751

NM_007294.4(BRCA1):c.4178C>G (p.Thr1393Ser)

SNV
Germline

Chr17:43090951

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA10593366

rs_1555586071

5 SubmittersRCV000637670 RCV001021994 RCV002509485 RCV004791656

NM_007294.4(BRCA1):c.881A>G (p.Lys294Arg)

SNV
Germline

Chr17:43094650

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10600314

rs_1555592934

2 SubmittersRCV000637501 RCV003157761

NM_007294.4(BRCA1):c.3603T>C (p.Gly1201=)

SNV
Germline

Chr17:43091928

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA500231970

rs_80356830

2 SubmittersRCV000637932 RCV006260928

NM_007294.4(BRCA1):c.3368A>T (p.Asp1123Val)

SNV
Germline

Chr17:43092163

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
not specified
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10595243

rs_1555587851

4 SubmittersRCV000637531 RCV001193190 RCV003157763

NM_007294.4(BRCA1):c.3361A>G (p.Asn1121Asp)

SNV
Germline

Chr17:43092170

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10595259

rs_876660526

3 SubmittersRCV000637495 RCV002325231

NM_007294.4(BRCA1):c.3104T>C (p.Val1035Ala)

SNV
Germline

Chr17:43092427

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Pancreatic cancer, susceptibility to, 4
Familial cancer of breast
Fanconi anemia, complementation group S
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10595778

rs_1555588389

4 SubmittersRCV000637337 RCV000764120 RCV003157747

NM_007294.4(BRCA1):c.2734A>C (p.Lys912Gln)

SNV
Germline

Chr17:43092797

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10596524

rs_1555589048

6 SubmittersRCV000637379 RCV002438688 RCV004791655 RCV006260924

NM_007294.4(BRCA1):c.193A>G (p.Lys65Glu)

SNV
Germline

Chr17:43106475

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
not specified

Criteria Provided
Conflicting Classifications

CA054758

rs_756948486

5 SubmittersRCV000637529 RCV001076727 RCV001013755 RCV002509484

NM_007294.4(BRCA1):c.2215A>C (p.Lys739Gln)

SNV
Germline

Chr17:43093316

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10597568

rs_56329598

5 SubmittersRCV000637400 RCV000773027 RCV001354965

NM_007294.4(BRCA1):c.134+3A>T

SNV
Germline

Chr17:43115723

Likely pathogenic

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary cancer-predisposing syndrome
BRCA1-related cancer predisposition

Reviewed By Expert Panel

CA658798847

rs_80358064

7 SubmittersRCV000637525 RCV001076221 RCV001284530 RCV002386027 RCV005415439

NM_007294.4(BRCA1):c.1762A>G (p.Ser588Gly)

SNV
Germline

Chr17:43093769

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10598504

rs_1169162396

4 SubmittersRCV000637392 RCV000772446 RCV003478360

NM_007294.4(BRCA1):c.1201G>A (p.Gly401Arg)

SNV
Germline

Chr17:43094330

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10599648

rs_1555592242

6 SubmittersRCV000637378 RCV001525444 RCV004003841 RCV004760666

NM_007294.4(BRCA1):c.5347A>G (p.Met1783Val)

SNV
Germline

Chr17:43049180

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA10590769

rs_80357012

4 SubmittersRCV000637461 RCV001072769

NM_007294.4(BRCA1):c.5264C>T (p.Ser1755Phe)

SNV
Germline

Chr17:43057065

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
not specified

Criteria Provided
Conflicting Classifications

CA10591025

rs_1555576858

3 SubmittersRCV000637788 RCV001076697 RCV006459712

NM_007294.4(BRCA1):c.4576G>A (p.Glu1526Lys)

SNV
Germline

Chr17:43074430

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10592363

rs_878853294

2 SubmittersRCV000637480 RCV002334086

NM_007294.4(BRCA1):c.3556C>T (p.Leu1186Phe)

SNV
Germline

Chr17:43091975

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 1
BRCA1-related disorder

Criteria Provided
Conflicting Classifications

CA10594852

rs_1555587505

8 SubmittersRCV000637424 RCV001186451 RCV002282275 RCV003441987 RCV004003843 RCV004554814

NM_007294.4(BRCA1):c.2941C>A (p.Pro981Thr)

SNV
Germline

Chr17:43092590

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10596116

rs_1555588677

3 SubmittersRCV000637395 RCV002258980

NM_007294.4(BRCA1):c.2579C>T (p.Thr860Ile)

SNV
Germline

Chr17:43092952

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
BRCA1-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA10596831

rs_1555589337

3 SubmittersRCV000637394 RCV003157750 RCV004802310

NM_007294.4(BRCA1):c.1969C>A (p.Gln657Lys)

SNV
Germline

Chr17:43093562

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10598080

rs_397508926

2 SubmittersRCV000637688 RCV003157787

NM_007294.4(BRCA1):c.1000C>A (p.Pro334Thr)

SNV
Germline

Chr17:43094531

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10600062

rs_1555592700

4 SubmittersRCV000637736 RCV001009655

NM_007294.4(BRCA1):c.742A>G (p.Thr248Ala)

SNV
Germline

Chr17:43094789

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
not specified
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10600599

rs_879255288

4 SubmittersRCV000637693 RCV001269131 RCV002386030

NM_007294.4(BRCA1):c.423A>G (p.Glu141=)

SNV
Germline

Chr17:43104140

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
not specified
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA500126666

rs_777102216

4 SubmittersRCV000637951 RCV000779892 RCV001022115 RCV001766363

NM_007294.4(BRCA1):c.302-8T>C

SNV
Germline

Chr17:43104269

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA658798835

rs_878854942

2 SubmittersRCV000637928 RCV003478366

NM_007294.4(BRCA1):c.302-9A>G

SNV
Germline

Chr17:43104270

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA658798836

rs_1389128798

4 SubmittersRCV000637888 RCV000774862 RCV005000419 RCV005240367

NM_000059.4(BRCA2):c.4025G>A (p.Ser1342Asn)

SNV
Germline

Chr13:32338380

Conflicting classifications of pathogenicity

Breast cancer, susceptibility to
Infiltrating duct carcinoma of breast
Hereditary cancer-predisposing syndrome
Ovarian cancer
Hereditary breast ovarian cancer syndrome
BRCA2-related disorder

Criteria Provided
Conflicting Classifications

CA387779050

rs_1270552356

7 SubmittersRCV000656474 RCV000677837 RCV000774996 RCV003153793 RCV002534246 RCV004527716

NM_000059.4(BRCA2):c.8165C>T (p.Thr2722Ile)

SNV
Germline

Chr13:32363367

Likely pathogenic

Breast cancer, susceptibility to
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
8 conditions
Breast-ovarian cancer, familial, susceptibility to, 2
Familial cancer of breast
BRCA2-related cancer predisposition

Reviewed By Expert Panel

CA387749581

rs_80359062

7 SubmittersRCV000656473 RCV000818447 RCV001027236 RCV004796262 RCV005367486 RCV006276092

NM_007294.4(BRCA1):c.272G>A (p.Cys91Tyr)

SNV
Germline

Chr17:43104897

Conflicting classifications of pathogenicity

Breast cancer, susceptibility to
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10601612

rs_1333635543

4 SubmittersRCV000656463 RCV001073075 RCV003645079 RCV004948548

NM_000059.4(BRCA2):c.4045A>G (p.Ile1349Val)

SNV
Germline

Chr13:32338400

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA6940743

rs_780544697

5 SubmittersRCV000656600 RCV001855349 RCV003157804 RCV003234787

NM_000059.4(BRCA2):c.3703C>T (p.Gln1235Ter)

SNV
Germline

Chr13:32338058

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA387778051

rs_1555283366

5 SubmittersRCV000657710 RCV000781127 RCV002343403

NM_000059.4(BRCA2):c.8931T>G (p.Tyr2977Ter)

SNV
Germline

Chr13:32379493

Pathogenic

Condition: not provided
Hereditary breast ovarian cancer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA387757303

rs_886040801

2 SubmittersRCV000657678 RCV005091888

NM_058216.3(RAD51C):c.532C>T (p.Gln178Ter)

SNV
Germline

Chr17:58696820

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 3

Criteria Provided
Multiple Submitters
No Conflicts

CA400345195

rs_1555594861

3 SubmittersRCV000657584 RCV003323660 RCV003465427

NM_000059.4(BRCA2):c.2133C>A (p.Cys711Ter)

SNV
Germline

Chr13:32336488

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA387770089

rs_535547513

4 SubmittersRCV000661794 RCV000807132 RCV003472058 RCV005520326

NM_000535.7(PMS2):c.1798A>G (p.Met600Val)

SNV
Germline

Chr7:5986967

Conflicting classifications of pathogenicity

Lynch syndrome 4
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Hereditary nonpolyposis colorectal neoplasms
Malignant tumor of breast
Lynch syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA366739799

rs_1304634005

10 SubmittersRCV000662640 RCV000772030 RCV001030721 RCV001061729 RCV001358228 RCV004004206 RCV006260963

NM_007294.4(BRCA1):c.1016A>G (p.Lys339Arg)

SNV
Germline

Chr17:43094515

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10600028

rs_587781737

3 SubmittersRCV000664302 RCV003157805

NM_000051.4(ATM):c.4612-2A>C

SNV
Germline

Chr11:108293311

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Familial cancer of breast
Lung cancer
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA382534556

rs_1555100347

4 SubmittersRCV000667617 RCV004026097 RCV004555872 RCV004764796

NM_000051.4(ATM):c.7708G>T (p.Glu2570Ter)

SNV
Germline

Chr11:108331957

Pathogenic/Likely pathogenic

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382561053

rs_1555124587

3 SubmittersRCV000675185 RCV001026738 RCV004026140

NM_000059.4(BRCA2):c.3875T>A (p.Leu1292Gln)

SNV
Germline

Chr13:32338230

Conflicting classifications of pathogenicity

Ovarian cancer
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387778729

rs_1555283446

3 SubmittersRCV000677828 RCV001208588 RCV003157807

NM_000059.4(BRCA2):c.9206G>A (p.Cys3069Tyr)

SNV
Germline

Chr13:32380095

Conflicting classifications of pathogenicity

Malignant tumor of pancreas
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387758294

rs_587782091

3 SubmittersRCV000677843 RCV001861856 RCV004948563

NM_000059.4(BRCA2):c.2803G>T (p.Asp935Tyr)

SNV
Germline

Chr13:32337158

Conflicting classifications of pathogenicity

Ovarian cancer
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387773749

rs_28897716

4 SubmittersRCV000677849 RCV001205781 RCV002440415

NM_000059.4(BRCA2):c.1963C>A (p.Pro655Thr)

SNV
Germline

Chr13:32336318

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387768498

rs_1566225847

4 SubmittersRCV000679156 RCV002422458 RCV005056422

NM_000059.4(BRCA2):c.5368G>C (p.Val1790Leu)

SNV
Germline

Chr13:32339723

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387785130

rs_1566232328

5 SubmittersRCV000679177 RCV001302750 RCV002343424

NM_000465.4(BARD1):c.159-1G>A

SNV
Germline

Chr2:214797118

Pathogenic/Likely pathogenic

Familial cancer of breast
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA350462337

rs_879254139

4 SubmittersRCV000702035 RCV000780948 RCV004026577

NM_000465.4(BARD1):c.1569-7T>G

SNV
Germline

Chr2:214752562

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA891842522

rs_1559395026

3 SubmittersRCV000703040 RCV003482152

NM_000059.4(BRCA2):c.283G>A (p.Val95Ile)

SNV
Germline

Chr13:32319292

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387754609

rs_1566216059

2 SubmittersRCV000707604 RCV002440557

NM_000059.4(BRCA2):c.1235C>G (p.Pro412Arg)

SNV
Germline

Chr13:32332713

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA387762209

rs_876659628

5 SubmittersRCV000687886 RCV003157827 RCV005357914

NM_000059.4(BRCA2):c.1706A>G (p.Gln569Arg)

SNV
Germline

Chr13:32333184

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA387765272

rs_1566224153

5 SubmittersRCV000704219 RCV001184333 RCV004802394

NM_000059.4(BRCA2):c.1864G>A (p.Ala622Thr)

SNV
Germline

Chr13:32333342

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387766502

rs_1566224537

3 SubmittersRCV000689741 RCV002406552

NM_000059.4(BRCA2):c.2039C>G (p.Thr680Arg)

SNV
Germline

Chr13:32336394

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA387768921

rs_1566226005

4 SubmittersRCV000704126 RCV002422589 RCV004802393

NM_000059.4(BRCA2):c.2183A>C (p.Asp728Ala)

SNV
Germline

Chr13:32336538

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA6940586

rs_757577670

4 SubmittersRCV000692499 RCV001014716

NM_000059.4(BRCA2):c.2266C>G (p.Gln756Glu)

SNV
Germline

Chr13:32336621

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA387771044

rs_1057518637

5 SubmittersRCV000700822 RCV001775972 RCV002442500 RCV004802386

NM_000059.4(BRCA2):c.2347G>C (p.Val783Leu)

SNV
Germline

Chr13:32336702

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387771618

rs_1566226546

2 SubmittersRCV000690022 RCV003157833

NM_000059.4(BRCA2):c.2408A>C (p.Tyr803Ser)

SNV
Germline

Chr13:32336763

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387772014

rs_1566226664

2 SubmittersRCV000685915 RCV003157817

NM_000059.4(BRCA2):c.2983G>A (p.Gly995Arg)

SNV
Germline

Chr13:32337338

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387774571

rs_886040457

3 SubmittersRCV000704538 RCV001184335

NM_000059.4(BRCA2):c.2992G>A (p.Gly998Ser)

SNV
Germline

Chr13:32337347

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387774612

rs_777615894

3 SubmittersRCV000693894 RCV002440465

NM_000059.4(BRCA2):c.3020G>T (p.Gly1007Val)

SNV
Germline

Chr13:32337375

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
8 conditions

Criteria Provided
Conflicting Classifications

CA387774833

rs_1566227648

4 SubmittersRCV000691289 RCV001018076 RCV002485644

NM_000059.4(BRCA2):c.3104A>G (p.Glu1035Gly)

SNV
Germline

Chr13:32337459

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387775358

rs_1566227803

3 SubmittersRCV000706668 RCV003158082

NM_000059.4(BRCA2):c.3636T>G (p.Asn1212Lys)

SNV
Germline

Chr13:32337991

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA387777923

rs_1555283324

5 SubmittersRCV000696502 RCV000773895 RCV004702339

NM_000059.4(BRCA2):c.3768T>A (p.His1256Gln)

SNV
Germline

Chr13:32338123

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387778247

rs_1566229121

4 SubmittersRCV000692959 RCV002343469

NM_000059.4(BRCA2):c.3779T>A (p.Leu1260Ter)

SNV
Germline

Chr13:32338134

Pathogenic

Hereditary breast ovarian cancer syndrome

Criteria Provided
Single Submitter

CA387778313

rs_1555283397

1 SubmittersRCV000702361

NM_000059.4(BRCA2):c.3859A>C (p.Asn1287His)

SNV
Germline

Chr13:32338214

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387778651

rs_1566229283

3 SubmittersRCV000699122 RCV003158054

NM_000059.4(BRCA2):c.3901A>T (p.Thr1301Ser)

SNV
Germline

Chr13:32338256

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified

Criteria Provided
Conflicting Classifications

CA6940732

rs_779899032

5 SubmittersRCV000698638 RCV000772743 RCV001293520

NM_000059.4(BRCA2):c.4096C>G (p.Leu1366Val)

SNV
Germline

Chr13:32338451

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387779237

rs_1566229657

2 SubmittersRCV000695644 RCV003158038

NM_000059.4(BRCA2):c.4381T>G (p.Ser1461Ala)

SNV
Germline

Chr13:32338736

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387781054

rs_1060502490

3 SubmittersRCV000688123 RCV002331339

NM_000059.4(BRCA2):c.4712A>T (p.Glu1571Val)

SNV
Germline

Chr13:32339067

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387782939

rs_766833528

3 SubmittersRCV000704203 RCV002250686 RCV003158073

NM_000059.4(BRCA2):c.4735G>C (p.Ala1579Pro)

SNV
Germline

Chr13:32339090

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387783037

rs_1566231045

2 SubmittersRCV000703403 RCV003158069

NM_000059.4(BRCA2):c.5049G>C (p.Gln1683His)

SNV
Germline

Chr13:32339404

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387784017

rs_773973434

4 SubmittersRCV000703400 RCV002334370

NM_000059.4(BRCA2):c.5074T>A (p.Trp1692Arg)

SNV
Germline

Chr13:32339429

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387784067

rs_1566231669

2 SubmittersRCV000689387 RCV003157829

NM_000059.4(BRCA2):c.5161A>G (p.Asn1721Asp)

SNV
Germline

Chr13:32339516

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387784242

rs_1443102794

4 SubmittersRCV000689790 RCV001525329

NM_000059.4(BRCA2):c.5327T>G (p.Leu1776Trp)

SNV
Germline

Chr13:32339682

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA387784918

rs_1566232213

5 SubmittersRCV000691267 RCV000777629 RCV004802363

NM_000059.4(BRCA2):c.6001T>C (p.Ser2001Pro)

SNV
Germline

Chr13:32340356

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387787678

rs_939633265

3 SubmittersRCV000686403 RCV001024794

NM_000059.4(BRCA2):c.6057C>A (p.Asn2019Lys)

SNV
Germline

Chr13:32340412

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA6940925

rs_147961615

4 SubmittersRCV000702139 RCV001183819

NM_000059.4(BRCA2):c.6072G>T (p.Gln2024His)

SNV
Germline

Chr13:32340427

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387787977

rs_1566233838

3 SubmittersRCV000701875 RCV002352194

NM_000059.4(BRCA2):c.6269A>T (p.His2090Leu)

SNV
Germline

Chr13:32340624

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387788969

rs_397507366

3 SubmittersRCV000686229 RCV002360715

NM_000059.4(BRCA2):c.6302A>G (p.Asn2101Ser)

SNV
Germline

Chr13:32340657

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387789031

rs_1566234294

3 SubmittersRCV000688725 RCV001025110

NM_000059.4(BRCA2):c.6647C>T (p.Ser2216Phe)

SNV
Germline

Chr13:32341002

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387790382

rs_1555284777

3 SubmittersRCV000699491 RCV000773526

NM_000059.4(BRCA2):c.6714T>A (p.Asp2238Glu)

SNV
Germline

Chr13:32341069

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA387791010

rs_28897742

5 SubmittersRCV000688362 RCV002360727 RCV004004280 RCV004997148

NM_000059.4(BRCA2):c.7435+2T>A

SNV
Germline

Chr13:32355290

Likely pathogenic

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA387742150

rs_1434072252

2 SubmittersRCV000705322 RCV004026685

NM_000059.4(BRCA2):c.8679G>T (p.Gln2893His)

SNV
Germline

Chr13:32376716

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387754762

rs_1566251407

3 SubmittersRCV000687926 RCV000759675 RCV002442428

NM_000059.4(BRCA2):c.8755-2A>C

SNV
Germline

Chr13:32379315

Likely pathogenic

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Multiple Submitters
No Conflicts

CA387755673

rs_1566252482

2 SubmittersRCV000688029 RCV003316797

NM_000059.4(BRCA2):c.8920A>G (p.Ile2974Val)

SNV
Germline

Chr13:32379482

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387757280

rs_1197950867

2 SubmittersRCV000704729 RCV002369955

NM_000059.4(BRCA2):c.998T>C (p.Phe333Ser)

SNV
Germline

Chr13:32332476

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA6940481

rs_781464949

4 SubmittersRCV000704702 RCV001190684

NM_000059.4(BRCA2):c.1142A>G (p.Asp381Gly)

SNV
Germline

Chr13:32332620

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA6940493

rs_769297468

3 SubmittersRCV000701259 RCV001017418

NM_000059.4(BRCA2):c.1312G>T (p.Asp438Tyr)

SNV
Germline

Chr13:32332790

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2
8 conditions
not specified

Criteria Provided
Conflicting Classifications

CA6940506

rs_765436962

8 SubmittersRCV000690507 RCV000774909 RCV003478411 RCV003999547 RCV005010682 RCV004800539

NM_000059.4(BRCA2):c.1358C>G (p.Pro453Arg)

SNV
Germline

Chr13:32332836

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA387762815

rs_754587041

4 SubmittersRCV000687015 RCV000758863 RCV003157822 RCV004004257

NM_000059.4(BRCA2):c.1453A>G (p.Lys485Glu)

SNV
Germline

Chr13:32332931

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387764341

rs_1566223599

5 SubmittersRCV000706447 RCV001184337

NM_000059.4(BRCA2):c.1726A>G (p.Asn576Asp)

SNV
Germline

Chr13:32333204

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387765359

rs_1566224180

3 SubmittersRCV000706183 RCV003158079

NM_000059.4(BRCA2):c.1765A>G (p.Lys589Glu)

SNV
Germline

Chr13:32333243

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387765603

rs_587781801

5 SubmittersRCV000695613 RCV002256475

NM_000059.4(BRCA2):c.2144G>C (p.Gly715Ala)

SNV
Germline

Chr13:32336499

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387770150

rs_1566226193

3 SubmittersRCV000691258 RCV001756181 RCV003158023

NM_000059.4(BRCA2):c.2154A>C (p.Glu718Asp)

SNV
Germline

Chr13:32336509

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387770210

rs_1566226220

2 SubmittersRCV000704771 RCV003158074

NM_000059.4(BRCA2):c.2633A>G (p.Asp878Gly)

SNV
Germline

Chr13:32336988

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
not specified
Condition: not provided
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA387773235

rs_765618026

5 SubmittersRCV000697478 RCV001797785 RCV001555337 RCV003158048 RCV003999666

NM_000059.4(BRCA2):c.3274T>C (p.Phe1092Leu)

SNV
Germline

Chr13:32337629

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387776066

rs_1566228206

3 SubmittersRCV000699591 RCV002442490

NM_000059.4(BRCA2):c.3311C>T (p.Thr1104Ile)

SNV
Germline

Chr13:32337666

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387776207

rs_1566228273

3 SubmittersRCV000706587 RCV002325433

NM_000059.4(BRCA2):c.3443A>T (p.Gln1148Leu)

SNV
Germline

Chr13:32337798

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387776645

rs_200808363

2 SubmittersRCV000705911 RCV003158077

NM_000059.4(BRCA2):c.3949A>G (p.Thr1317Ala)

SNV
Germline

Chr13:32338304

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387778889

rs_398122773

2 SubmittersRCV000700895 RCV003158060

NM_000059.4(BRCA2):c.3986G>A (p.Arg1329Lys)

SNV
Germline

Chr13:32338341

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387778965

rs_1566229484

2 SubmittersRCV000691965 RCV003158026

NM_000059.4(BRCA2):c.4004A>G (p.Glu1335Gly)

SNV
Germline

Chr13:32338359

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387779000

rs_1566229501

2 SubmittersRCV000688598 RCV003157828

NM_000059.4(BRCA2):c.4298G>A (p.Gly1433Glu)

SNV
Germline

Chr13:32338653

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA6940767

rs_758795405

4 SubmittersRCV000702761 RCV000758892 RCV002332491

NM_000059.4(BRCA2):c.4823A>G (p.Glu1608Gly)

SNV
Germline

Chr13:32339178

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387783301

rs_766855850

2 SubmittersRCV000696621 RCV003158044

NM_000059.4(BRCA2):c.4952C>T (p.Pro1651Leu)

SNV
Germline

Chr13:32339307

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA6940833

rs_565268514

7 SubmittersRCV000705847 RCV000985536 RCV001524910 RCV004802399

NM_000059.4(BRCA2):c.5192A>G (p.His1731Arg)

SNV
Germline

Chr13:32339547

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA6940855

rs_765259371

5 SubmittersRCV000699255 RCV001284090 RCV002334341

NM_000057.4(BLM):c.137A>G (p.Asn46Ser)

SNV
Germline

Chr15:90749405

Conflicting classifications of pathogenicity

Bloom syndrome
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA393839432

rs_1237910576

4 SubmittersRCV000699899 RCV001030678 RCV002386236

NM_000059.4(BRCA2):c.5504A>G (p.Asn1835Ser)

SNV
Germline

Chr13:32339859

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA387785811

rs_1282916502

3 SubmittersRCV000700320 RCV003158058 RCV003478433

NM_000059.4(BRCA2):c.5567A>G (p.His1856Arg)

SNV
Germline

Chr13:32339922

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA387785987

rs_1566232680

5 SubmittersRCV000690379 RCV003234788 RCV003158020 RCV004721555

NM_000059.4(BRCA2):c.5736A>C (p.Glu1912Asp)

SNV
Germline

Chr13:32340091

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA387786941

rs_1566233116

3 SubmittersRCV000685985 RCV003157818 RCV006265205

NM_000059.4(BRCA2):c.5911T>C (p.Ser1971Pro)

SNV
Germline

Chr13:32340266

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387787513

rs_1566233504

3 SubmittersRCV000707701 RCV003158086

NM_000059.4(BRCA2):c.6061C>T (p.His2021Tyr)

SNV
Germline

Chr13:32340416

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387787929

rs_1566233813

3 SubmittersRCV000706136 RCV002352214

NM_000059.4(BRCA2):c.6196G>T (p.Val2066Phe)

SNV
Germline

Chr13:32340551

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387788827

rs_397507365

3 SubmittersRCV000691596 RCV003158024

NM_000059.4(BRCA2):c.6220C>T (p.His2074Tyr)

SNV
Germline

Chr13:32340575

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA6940936

rs_34309943

4 SubmittersRCV000697640 RCV000776357

NM_000059.4(BRCA2):c.6282T>A (p.Tyr2094Ter)

SNV
Germline

Chr13:32340637

Pathogenic

Hereditary breast ovarian cancer syndrome

Criteria Provided
Single Submitter

CA387788994

rs_1566234249

1 SubmittersRCV000695620

NM_000059.4(BRCA2):c.6286C>T (p.Pro2096Ser)

SNV
Germline

Chr13:32340641

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387789004

rs_1309257585

3 SubmittersRCV000700111 RCV002360793

NM_000059.4(BRCA2):c.6505A>T (p.Thr2169Ser)

SNV
Germline

Chr13:32340860

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA387789558

rs_1471965041

4 SubmittersRCV000700191 RCV001186495 RCV003483711

NM_000059.4(BRCA2):c.6511G>A (p.Val2171Met)

SNV
Germline

Chr13:32340866

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387789580

rs_1566234797

2 SubmittersRCV000690783 RCV003158021

NM_000059.4(BRCA2):c.6821G>A (p.Gly2274Glu)

SNV
Germline

Chr13:32341176

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387791438

rs_55712212

3 SubmittersRCV000698869 RCV003158053

NM_000059.4(BRCA2):c.6859A>T (p.Arg2287Ter)

SNV
Germline

Chr13:32344575

Pathogenic

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
BRCA2-related cancer predisposition

Reviewed By Expert Panel

CA387792666

rs_876661261

5 SubmittersRCV000697327 RCV002360780 RCV006260999 RCV005415441

NM_000059.4(BRCA2):c.8210T>A (p.Leu2737Ter)

SNV
Germline

Chr13:32363412

Pathogenic

Hereditary breast ovarian cancer syndrome

Criteria Provided
Single Submitter

CA387749775

rs_1566245715

1 SubmittersRCV000695375

NM_000059.4(BRCA2):c.9270C>G (p.Phe3090Leu)

SNV
Germline

Chr13:32394702

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
BRCA2-related cancer predisposition
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA247504806

rs_587780873

5 SubmittersRCV000686805 RCV002369831 RCV004802354 RCV005231266 RCV005249021

NM_000059.4(BRCA2):c.9418G>A (p.Ala3140Thr)

SNV
Germline

Chr13:32394850

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387761458

rs_786203511

3 SubmittersRCV000704438 RCV001525331

NM_000059.4(BRCA2):c.9706A>T (p.Lys3236Ter)

SNV
Germline

Chr13:32398219

Pathogenic

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Multiple Submitters
No Conflicts

CA387765413

rs_80359239

2 SubmittersRCV000706708 RCV003141708

NM_024675.4(PALB2):c.97G>C (p.Ala33Pro)

SNV
Germline

Chr16:23638081

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA395139652

rs_747302288

2 SubmittersRCV000689943 RCV003483707

NM_000059.4(BRCA2):c.628A>G (p.Ile210Val)

SNV
Germline

Chr13:32326610

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Fanconi anemia complementation group D1
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA387758427

rs_1555281106

5 SubmittersRCV000690118 RCV001113537 RCV001113536 RCV002352134 RCV003327447

NM_000059.4(BRCA2):c.818C>T (p.Ser273Leu)

SNV
Germline

Chr13:32332296

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA6940467

rs_80359068

5 SubmittersRCV000686235 RCV002424586 RCV003478403 RCV004004244

NM_000059.4(BRCA2):c.1418A>C (p.His473Pro)

SNV
Germline

Chr13:32332896

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387764219

rs_80358430

2 SubmittersRCV000697642 RCV003158049

NM_000059.4(BRCA2):c.2008T>C (p.Cys670Arg)

SNV
Germline

Chr13:32336363

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387768743

rs_1566225927

2 SubmittersRCV000699997 RCV003158057

NM_000059.4(BRCA2):c.2078G>A (p.Cys693Tyr)

SNV
Germline

Chr13:32336433

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA6940577

rs_771226774

4 SubmittersRCV000703516 RCV000772734

NM_000059.4(BRCA2):c.2183A>T (p.Asp728Val)

SNV
Germline

Chr13:32336538

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387770385

rs_757577670

3 SubmittersRCV000701244 RCV003158062

NM_000059.4(BRCA2):c.2476G>A (p.Glu826Lys)

SNV
Germline

Chr13:32336831

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified

Criteria Provided
Conflicting Classifications

CA387772372

rs_1566226803

5 SubmittersRCV000694642 RCV001015652 RCV001193885

NM_000059.4(BRCA2):c.2815A>G (p.Thr939Ala)

SNV
Germline

Chr13:32337170

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387773774

rs_1566227305

2 SubmittersRCV000701932 RCV003158066

NM_000059.4(BRCA2):c.3044A>C (p.Lys1015Thr)

SNV
Germline

Chr13:32337399

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA247503555

rs_1000398743

6 SubmittersRCV000696911 RCV001186599 RCV000985490 RCV003999662

NM_000059.4(BRCA2):c.3110A>G (p.Gln1037Arg)

SNV
Germline

Chr13:32337465

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387775409

rs_1566227808

4 SubmittersRCV000686068 RCV000775691

NM_000059.4(BRCA2):c.3611C>T (p.Ala1204Val)

SNV
Germline

Chr13:32337966

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387777547

rs_1566228843

3 SubmittersRCV000691212 RCV002458230

NM_000059.4(BRCA2):c.3659A>G (p.Tyr1220Cys)

SNV
Germline

Chr13:32338014

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387777971

rs_1566228915

3 SubmittersRCV000690016 RCV003157832

NM_000059.4(BRCA2):c.3989A>T (p.Asn1330Ile)

SNV
Germline

Chr13:32338344

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387778971

rs_1057520792

2 SubmittersRCV000706055 RCV003158078

NM_000059.4(BRCA2):c.4295G>A (p.Ser1432Asn)

SNV
Germline

Chr13:32338650

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387780679

rs_1566230025

3 SubmittersRCV000694470 RCV001022228

NM_000059.4(BRCA2):c.4559C>G (p.Thr1520Ser)

SNV
Germline

Chr13:32338914

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6940792

rs_747993489

6 SubmittersRCV000687215 RCV000772749 RCV003493703 RCV003442019

NM_000059.4(BRCA2):c.4633C>T (p.Leu1545Phe)

SNV
Germline

Chr13:32338988

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified

Criteria Provided
Conflicting Classifications

CA387782113

rs_1566230846

4 SubmittersRCV000698794 RCV003158052 RCV004596329

NM_000059.4(BRCA2):c.4654G>A (p.Gly1552Ser)

SNV
Germline

Chr13:32339009

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387782211

rs_1566230890

2 SubmittersRCV000687114 RCV003157823

NM_000059.4(BRCA2):c.5131G>T (p.Val1711Leu)

SNV
Germline

Chr13:32339486

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387784177

rs_587782067

3 SubmittersRCV000695492 RCV001023596

NM_000059.4(BRCA2):c.5145G>C (p.Leu1715Phe)

SNV
Germline

Chr13:32339500

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387784206

rs_1566231804

3 SubmittersRCV000695099 RCV002334311

NM_000059.4(BRCA2):c.5284T>C (p.Tyr1762His)

SNV
Germline

Chr13:32339639

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387784768

rs_1192019733

3 SubmittersRCV000702897 RCV003158068

NM_000059.4(BRCA2):c.5300A>G (p.Lys1767Arg)

SNV
Germline

Chr13:32339655

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387784824

rs_1375943534

2 SubmittersRCV000704116 RCV003158072

NM_000059.4(BRCA2):c.5806A>G (p.Met1936Val)

SNV
Germline

Chr13:32340161

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast and/or ovarian cancer
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA387787233

rs_1566233265

6 SubmittersRCV000695128 RCV001184332 RCV001798960 RCV003999633

NM_000059.4(BRCA2):c.5871A>G (p.Ile1957Met)

SNV
Germline

Chr13:32340226

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA387787436

rs_1566233369

4 SubmittersRCV000702885 RCV002352197 RCV004802391

NM_000059.4(BRCA2):c.5878T>C (p.Cys1960Arg)

SNV
Germline

Chr13:32340233

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387787454

rs_1566233377

2 SubmittersRCV000693579 RCV003158033

NM_000059.4(BRCA2):c.5917A>G (p.Asn1973Asp)

SNV
Germline

Chr13:32340272

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387787524

rs_1555284460

2 SubmittersRCV000696858 RCV003158046

NM_000059.4(BRCA2):c.6053G>T (p.Ser2018Ile)

SNV
Germline

Chr13:32340408

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387787891

rs_1566233796

2 SubmittersRCV000687254 RCV003157824

NM_000059.4(BRCA2):c.6067G>T (p.Asp2023Tyr)

SNV
Germline

Chr13:32340422

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387787953

rs_1478738690

2 SubmittersRCV000696234 RCV003158042

NM_000059.4(BRCA2):c.6117A>C (p.Leu2039Phe)

SNV
Germline

Chr13:32340472

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified

Criteria Provided
Conflicting Classifications

CA387788152

rs_1566233950

5 SubmittersRCV000685899 RCV001024910 RCV001193357

NM_000059.4(BRCA2):c.6279C>A (p.His2093Gln)

SNV
Germline

Chr13:32340634

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387788987

rs_1566234239

2 SubmittersRCV000696755 RCV003158045

NM_000059.4(BRCA2):c.6655T>G (p.Ser2219Ala)

SNV
Germline

Chr13:32341010

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387790421

rs_1566235100

2 SubmittersRCV000687456 RCV003157826

NM_000059.4(BRCA2):c.6769C>T (p.Pro2257Ser)

SNV
Germline

Chr13:32341124

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387791215

rs_1566235374

2 SubmittersRCV000703424 RCV003158070

NM_000059.4(BRCA2):c.6815G>A (p.Arg2272Lys)

SNV
Germline

Chr13:32341170

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
not specified

Criteria Provided
Conflicting Classifications

CA6940987

rs_199522406

5 SubmittersRCV000689614 RCV000758936 RCV001025681 RCV002509514

NM_000059.4(BRCA2):c.7150C>G (p.Gln2384Glu)

SNV
Germline

Chr13:32355003

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387739165

rs_55977008

3 SubmittersRCV000692396 RCV000776936

NM_000059.4(BRCA2):c.7312G>T (p.Asp2438Tyr)

SNV
Germline

Chr13:32355165

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified

Criteria Provided
Conflicting Classifications

CA6941079

rs_776936973

3 SubmittersRCV000689506 RCV002386182 RCV005231273

NM_000059.4(BRCA2):c.7867C>T (p.His2623Tyr)

SNV
Germline

Chr13:32362584

Likely pathogenic

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA387747084

rs_1566244783

2 SubmittersRCV000695105 RCV002406594

NM_000059.4(BRCA2):c.8188G>T (p.Ala2730Ser)

SNV
Germline

Chr13:32363390

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387749677

rs_80359066

3 SubmittersRCV000702473 RCV002424693

NM_000059.4(BRCA2):c.8417C>G (p.Ser2806Ter)

SNV
Germline

Chr13:32370487

Pathogenic

Hereditary breast ovarian cancer syndrome

Criteria Provided
Single Submitter

CA387752522

rs_587782785

1 SubmittersRCV000697446

NM_000059.4(BRCA2):c.9239C>G (p.Ser3080Cys)

SNV
Germline

Chr13:32380128

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA6941358

rs_757824441

5 SubmittersRCV000687901 RCV001188321 RCV004588109 RCV004802359

NM_000059.4(BRCA2):c.9256+4A>G

SNV
Germline

Chr13:32380149

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified

Criteria Provided
Conflicting Classifications

CA891843583

rs_1566253715

3 SubmittersRCV000686044 RCV003163103 RCV005436011

NM_000059.4(BRCA2):c.9421G>A (p.Gly3141Arg)

SNV
Germline

Chr13:32394853

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387761468

rs_1566259143

3 SubmittersRCV000696193 RCV003584716

NM_007294.4(BRCA1):c.5540G>T (p.Cys1847Phe)

SNV
Germline

Chr17:43045730

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10590241

rs_1182000313

4 SubmittersRCV000706010 RCV001077575 RCV003303193

NM_007294.4(BRCA1):c.5467+5G>T

SNV
Germline

Chr17:43047638

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA891844097

rs_397509287

4 SubmittersRCV000703598 RCV000985443 RCV001076243 RCV002343548

NM_007294.4(BRCA1):c.5267A>G (p.Gln1756Arg)

SNV
Germline

Chr17:43057062

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
BRCA1-related cancer predisposition
not specified

Criteria Provided
Conflicting Classifications

CA10591021

rs_1567764257

7 SubmittersRCV000704503 RCV001077105 RCV002334379 RCV003478442 RCV004802396 RCV005407904

NM_007294.4(BRCA1):c.5176A>T (p.Arg1726Ter)

SNV
Germline

Chr17:43063350

Pathogenic

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Single Submitter

CA10591192

rs_80357501

2 SubmittersRCV000690817 RCV001072429

NM_007294.4(BRCA1):c.4084G>A (p.Asp1362Asn)

SNV
Germline

Chr17:43091447

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA058970

rs_775463394

3 SubmittersRCV000697954 RCV001524537

NM_007294.4(BRCA1):c.3532A>G (p.Ser1178Gly)

SNV
Germline

Chr17:43091999

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10594906

rs_1567791298

3 SubmittersRCV000707064 RCV000758811 RCV003158085

NM_007294.4(BRCA1):c.3476T>A (p.Ile1159Lys)

SNV
Germline

Chr17:43092055

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10595029

rs_1567791496

2 SubmittersRCV000701374 RCV003158063

NM_007294.4(BRCA1):c.3230G>A (p.Gly1077Glu)

SNV
Germline

Chr17:43092301

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA10595524

rs_1567792424

7 SubmittersRCV000702858 RCV000773902 RCV000758808 RCV003493714

NM_007294.4(BRCA1):c.3223A>G (p.Asn1075Asp)

SNV
Germline

Chr17:43092308

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10595536

rs_1567792459

3 SubmittersRCV000694966 RCV002442460

NM_007294.4(BRCA1):c.2845G>A (p.Gly949Ser)

SNV
Germline

Chr17:43092686

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10596299

rs_1324818767

3 SubmittersRCV000702344 RCV003158067 RCV004997203

NM_007294.4(BRCA1):c.2758G>T (p.Val920Leu)

SNV
Germline

Chr17:43092773

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10596474

rs_80357361

5 SubmittersRCV000687910 RCV001016516 RCV001251258 RCV004997146

NM_007294.4(BRCA1):c.2563C>A (p.Gln855Lys)

SNV
Germline

Chr17:43092968

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
not specified
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10596866

rs_80357131

3 SubmittersRCV000689658 RCV001001340 RCV003157830

NM_007294.4(BRCA1):c.2437G>A (p.Gly813Arg)

SNV
Germline

Chr17:43093094

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10597135

rs_80357186

4 SubmittersRCV000686164 RCV000773714

NM_007294.4(BRCA1):c.2345G>T (p.Ser782Ile)

SNV
Germline

Chr17:43093186

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10597315

rs_1567796012

3 SubmittersRCV000689668 RCV001015243

NM_007294.4(BRCA1):c.1892T>C (p.Leu631Pro)

SNV
Germline

Chr17:43093639

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10598236

rs_1386991114

2 SubmittersRCV000692858 RCV003158030

NM_007294.4(BRCA1):c.1792T>G (p.Leu598Val)

SNV
Germline

Chr17:43093739

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10598436

rs_1060504554

5 SubmittersRCV000698351 RCV002406607 RCV004997190

NM_007294.4(BRCA1):c.1531G>A (p.Gly511Ser)

SNV
Germline

Chr17:43094000

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
not specified

Criteria Provided
Conflicting Classifications

CA10598989

rs_1567799248

5 SubmittersRCV000705840 RCV002397481 RCV003999770 RCV006459851

NM_007294.4(BRCA1):c.638G>A (p.Arg213Lys)

SNV
Germline

Chr17:43095878

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10600830

rs_1567803140

2 SubmittersRCV000701969 RCV002360803

NM_007294.4(BRCA1):c.121C>T (p.His41Tyr)

SNV
Germline

Chr17:43115739

Pathogenic/Likely pathogenic

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
BRCA1-related cancer predisposition

Criteria Provided
Multiple Submitters
No Conflicts

CA10601915

rs_1060502353

11 SubmittersRCV000704369 RCV001184334 RCV001077001 RCV004696983 RCV004802395

NM_007294.4(BRCA1):c.14C>T (p.Ala5Val)

SNV
Germline

Chr17:43124083

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10602130

rs_1335137805

4 SubmittersRCV000698926 RCV001077640 RCV002388292

NM_000546.6(TP53):c.534C>A (p.His178Gln)

SNV
Germline

Chr17:7675078

Pathogenic/Likely pathogenic

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA397841364

rs_1555526001

3 SubmittersRCV000698003 RCV001023959 RCV002307599

NM_007294.4(BRCA1):c.3976C>T (p.His1326Tyr)

SNV
Germline

Chr17:43091555

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10594013

rs_1567789376

2 SubmittersRCV000693921 RCV003158034

NM_007294.4(BRCA1):c.3772G>A (p.Glu1258Lys)

SNV
Germline

Chr17:43091759

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified

Criteria Provided
Conflicting Classifications

CA10594427

rs_397509105

4 SubmittersRCV000694081 RCV002343480 RCV005407892

NM_007294.4(BRCA1):c.3036A>C (p.Arg1012Ser)

SNV
Germline

Chr17:43092495

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10595921

rs_1567793150

3 SubmittersRCV000690841 RCV001177425

NM_007294.4(BRCA1):c.2678A>G (p.Lys893Arg)

SNV
Germline

Chr17:43092853

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10596644

rs_1567794714

3 SubmittersRCV000704978 RCV003158075 RCV004702357

NM_007294.4(BRCA1):c.2583C>G (p.Phe861Leu)

SNV
Germline

Chr17:43092948

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10596824

rs_1555589334

2 SubmittersRCV000689771 RCV003157831

NM_007294.4(BRCA1):c.2344A>G (p.Ser782Gly)

SNV
Germline

Chr17:43093187

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10597319

rs_1433746078

4 SubmittersRCV000691586 RCV001177426

NM_007294.4(BRCA1):c.2297G>A (p.Ser766Asn)

SNV
Germline

Chr17:43093234

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10597408

rs_1567796224

2 SubmittersRCV000701552 RCV003158065

NM_007294.4(BRCA1):c.1907G>C (p.Cys636Ser)

SNV
Germline

Chr17:43093624

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10598210

rs_398122649

3 SubmittersRCV000702848 RCV002406632

NM_007294.4(BRCA1):c.1773A>G (p.Ile591Met)

SNV
Germline

Chr17:43093758

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary cancer

Criteria Provided
Conflicting Classifications

CA10598478

rs_1555591259

5 SubmittersRCV000696414 RCV003158043 RCV003478426 RCV004702338

NM_007294.4(BRCA1):c.1484A>C (p.Glu495Ala)

SNV
Germline

Chr17:43094047

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA10599078

rs_1567799498

4 SubmittersRCV000698146 RCV003158050 RCV003316799

NM_007294.4(BRCA1):c.1061A>G (p.Asn354Ser)

SNV
Germline

Chr17:43094470

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10599936

rs_1555592577

2 SubmittersRCV000691148 RCV003158022

NM_007294.4(BRCA1):c.1022A>C (p.Asp341Ala)

SNV
Germline

Chr17:43094509

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10600016

rs_1567801162

3 SubmittersRCV000696720 RCV001017033

NM_007294.4(BRCA1):c.953A>G (p.His318Arg)

SNV
Germline

Chr17:43094578

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 1
not specified
Breast-ovarian cancer, familial, susceptibility to, 1
Pancreatic cancer, susceptibility to, 4
Fanconi anemia, complementation group S

Criteria Provided
Conflicting Classifications

CA056922

rs_776278453

9 SubmittersRCV000689929 RCV000775182 RCV001565727 RCV001771944 RCV003493704 RCV005021061

NM_007294.4(BRCA1):c.878C>G (p.Thr293Ser)

SNV
Germline

Chr17:43094653

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
BRCA1-related cancer predisposition
not specified

Criteria Provided
Conflicting Classifications

CA056854

rs_747172803

7 SubmittersRCV000691325 RCV001018322 RCV001766481 RCV004802364 RCV006268950

NM_007294.4(BRCA1):c.520C>T (p.Gln174Ter)

SNV
Germline

Chr17:43099802

Pathogenic

Hereditary breast ovarian cancer syndrome
Familial cancer of breast

Criteria Provided
Single Submitter

CA10601102

rs_1567806048

2 SubmittersRCV000698243 RCV002250684

NM_007294.4(BRCA1):c.5444G>C (p.Trp1815Ser)

SNV
Germline

Chr17:43047666

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10590520

rs_80356962

7 SubmittersRCV000686696 RCV000774666 RCV001077411 RCV002469257 RCV006260978

NM_007294.4(BRCA1):c.4903G>C (p.Glu1635Gln)

SNV
Germline

Chr17:43071011

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10591719

rs_200432771

3 SubmittersRCV000691744 RCV001077822 RCV005782016

NM_007294.4(BRCA1):c.4485-2A>C

SNV
Germline

Chr17:43074523

Pathogenic/Likely pathogenic

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 1
Fanconi anemia, complementation group S
Pancreatic cancer, susceptibility to, 4

Criteria Provided
Multiple Submitters
No Conflicts

CA10592561

rs_80358054

4 SubmittersRCV000688168 RCV001191823 RCV001283905 RCV005021054

NM_007294.4(BRCA1):c.3875C>G (p.Ser1292Cys)

SNV
Germline

Chr17:43091656

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Fanconi anemia, complementation group S
Breast-ovarian cancer, familial, susceptibility to, 1
Pancreatic cancer, susceptibility to, 4

Criteria Provided
Conflicting Classifications

CA10594212

rs_876658340

4 SubmittersRCV000699231 RCV001021335 RCV005021086

NM_007294.4(BRCA1):c.3812G>C (p.Ser1271Thr)

SNV
Germline

Chr17:43091719

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10594343

rs_1567789989

2 SubmittersRCV000691690 RCV003158025

NM_007294.4(BRCA1):c.3769G>A (p.Glu1257Lys)

SNV
Germline

Chr17:43091762

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10594435

rs_1567790183

2 SubmittersRCV000703675 RCV003158071

NM_007294.4(BRCA1):c.3557T>A (p.Leu1186His)

SNV
Germline

Chr17:43091974

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10594851

rs_1567791164

3 SubmittersRCV000693761 RCV002458243

NM_007294.4(BRCA1):c.3460T>A (p.Leu1154Ile)

SNV
Germline

Chr17:43092071

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10595064

rs_1567791553

3 SubmittersRCV000706928 RCV003158084

NM_007294.4(BRCA1):c.3424G>T (p.Ala1142Ser)

SNV
Germline

Chr17:43092107

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10595130

rs_80357101

2 SubmittersRCV000692533 RCV003158028

NM_007294.4(BRCA1):c.3244G>A (p.Ala1082Thr)

SNV
Germline

Chr17:43092287

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA058031

rs_779459487

3 SubmittersRCV000685669 RCV003157815

NM_007294.4(BRCA1):c.2906A>G (p.Asn969Ser)

SNV
Germline

Chr17:43092625

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10596181

rs_1567793695

3 SubmittersRCV000687029 RCV002440428

NM_007294.4(BRCA1):c.2171C>T (p.Pro724Leu)

SNV
Germline

Chr17:43093360

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified

Criteria Provided
Conflicting Classifications

CA058748

rs_751104940

5 SubmittersRCV000705073 RCV001183206 RCV004800551

NM_007294.4(BRCA1):c.2126T>G (p.Phe709Cys)

SNV
Germline

Chr17:43093405

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10597752

rs_1567796937

2 SubmittersRCV000690178 RCV003157834

NM_007294.4(BRCA1):c.1960A>C (p.Lys654Gln)

SNV
Germline

Chr17:43093571

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10598097

rs_80357355

4 SubmittersRCV000693765 RCV001013854 RCV004997170

NM_007294.4(BRCA1):c.1666A>G (p.Lys556Glu)

SNV
Germline

Chr17:43093865

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
not specified
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10598702

rs_587783041

4 SubmittersRCV000701801 RCV001290659 RCV002397455

NM_007294.4(BRCA1):c.1291T>A (p.Leu431Ile)

SNV
Germline

Chr17:43094240

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
not specified
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA10599472

rs_960381964

8 SubmittersRCV000700651 RCV001532307 RCV003158059 RCV003321721 RCV004792405

NM_007294.4(BRCA1):c.1258G>A (p.Asp420Asn)

SNV
Germline

Chr17:43094273

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA10599539

rs_80357488

3 SubmittersRCV000694638 RCV003158036 RCV003999621

NM_007294.4(BRCA1):c.1031C>A (p.Ala344Asp)

SNV
Germline

Chr17:43094500

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10599996

rs_876658636

2 SubmittersRCV000685674 RCV003157816

NM_007294.4(BRCA1):c.982T>G (p.Cys328Gly)

SNV
Germline

Chr17:43094549

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10600095

rs_748156170

3 SubmittersRCV000686850 RCV000758855 RCV003157821

NM_000546.6(TP53):c.116C>T (p.Ala39Val)

SNV
Germline

Chr17:7676253

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1
Li-Fraumeni syndrome 1
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA397847899

rs_1353016807

5 SubmittersRCV000690309 RCV002225719 RCV002289968 RCV002289967 RCV005357920

NM_000059.4(BRCA2):c.107C>A (p.Ser36Tyr)

SNV
Germline

Chr13:32319116

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387754174

rs_730881554

2 SubmittersRCV000696046 RCV005782018

NM_000059.4(BRCA2):c.476-1G>C

SNV
Germline

Chr13:32326241

Pathogenic

Hereditary breast ovarian cancer syndrome

Criteria Provided
Single Submitter

CA387757602

rs_397507340

1 SubmittersRCV000697675

NM_000059.4(BRCA2):c.808T>G (p.Ser270Ala)

SNV
Germline

Chr13:32332286

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified

Criteria Provided
Conflicting Classifications

CA387760386

rs_1566222098

4 SubmittersRCV000699149 RCV003158055 RCV003994086

NM_000059.4(BRCA2):c.871C>G (p.Leu291Val)

SNV
Germline

Chr13:32332349

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387760597

rs_1566222250

2 SubmittersRCV000700985 RCV003158061

NM_000059.4(BRCA2):c.1168T>C (p.Ser390Pro)

SNV
Germline

Chr13:32332646

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387761942

rs_1566222903

2 SubmittersRCV000697319 RCV003158047

NM_000059.4(BRCA2):c.1366G>A (p.Glu456Lys)

SNV
Germline

Chr13:32332844

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA6940513

rs_778142232

4 SubmittersRCV000704282 RCV000773074

NM_000059.4(BRCA2):c.2116G>A (p.Ala706Thr)

SNV
Germline

Chr13:32336471

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA387769999

rs_1453451895

7 SubmittersRCV000695922 RCV002422526 RCV002509517 RCV004802374

NM_000059.4(BRCA2):c.2498T>C (p.Leu833Pro)

SNV
Germline

Chr13:32336853

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387772420

rs_1566226846

2 SubmittersRCV000693433 RCV003158031

NM_000059.4(BRCA2):c.3262C>G (p.Pro1088Ala)

SNV
Germline

Chr13:32337617

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387776016

rs_80358572

2 SubmittersRCV000696144 RCV003158041

NM_000059.4(BRCA2):c.3506A>G (p.Asn1169Ser)

SNV
Germline

Chr13:32337861

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
not specified
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387776978

rs_1194031580

4 SubmittersRCV000705467 RCV001805823 RCV002458312

NM_000059.4(BRCA2):c.3637G>T (p.Glu1213Ter)

SNV
Germline

Chr13:32337992

Pathogenic

Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA387777926

rs_1566228876

2 SubmittersRCV000691926 RCV001283921

NM_000059.4(BRCA2):c.3691A>G (p.Thr1231Ala)

SNV
Germline

Chr13:32338046

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387778029

rs_1555283363

2 SubmittersRCV000685084 RCV003157813

NM_000059.4(BRCA2):c.3926T>G (p.Ile1309Ser)

SNV
Germline

Chr13:32338281

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387778840

rs_1566229403

4 SubmittersRCV000686771 RCV003157819

NM_000059.4(BRCA2):c.4043G>A (p.Cys1348Tyr)

SNV
Germline

Chr13:32338398

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA387779090

rs_1307056903

5 SubmittersRCV000692198 RCV001177427 RCV006255788

NM_000059.4(BRCA2):c.4334A>C (p.Lys1445Thr)

SNV
Germline

Chr13:32338689

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387780866

rs_1566230096

3 SubmittersRCV000688055 RCV002331336

NM_000059.4(BRCA2):c.4452C>A (p.Asp1484Glu)

SNV
Germline

Chr13:32338807

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387781375

rs_1566230343

2 SubmittersRCV000696101 RCV003158040

NM_000059.4(BRCA2):c.4638T>A (p.Phe1546Leu)

SNV
Germline

Chr13:32338993

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA6940802

rs_777505242

4 SubmittersRCV000686790 RCV003157820 RCV004004253

NM_000059.4(BRCA2):c.4804A>G (p.Lys1602Glu)

SNV
Germline

Chr13:32339159

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387783264

rs_1566231167

3 SubmittersRCV000701471 RCV003158064

NM_000546.6(TP53):c.211C>T (p.Pro71Ser)

SNV
Germline

Chr17:7676158

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Conflicting Classifications

CA397845838

rs_1567556576

6 SubmittersRCV000693744 RCV000771703 RCV001030739 RCV002289972

NM_000059.4(BRCA2):c.4937A>G (p.Glu1646Gly)

SNV
Germline

Chr13:32339292

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA387783696

rs_762394148

5 SubmittersRCV000698099 RCV001023296 RCV001766515

NM_000059.4(BRCA2):c.4982A>T (p.Tyr1661Phe)

SNV
Germline

Chr13:32339337

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA247508812

rs_771921490

5 SubmittersRCV000705607 RCV002477629 RCV003158076 RCV003999767

NM_000059.4(BRCA2):c.5573C>A (p.Thr1858Lys)

SNV
Germline

Chr13:32339928

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387786000

rs_1566232699

3 SubmittersRCV000706735 RCV003158083

NM_000059.4(BRCA2):c.5651T>G (p.Ile1884Ser)

SNV
Germline

Chr13:32340006

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387786162

rs_80358788

2 SubmittersRCV000699745 RCV003158056

NM_000059.4(BRCA2):c.5695G>T (p.Asp1899Tyr)

SNV
Germline

Chr13:32340050

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387786686

rs_371189402

2 SubmittersRCV000694572 RCV003158035

NM_000059.4(BRCA2):c.5930T>A (p.Ile1977Asn)

SNV
Germline

Chr13:32340285

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387787547

rs_1566233570

2 SubmittersRCV000687425 RCV003157825

NM_000059.4(BRCA2):c.6143A>G (p.Asn2048Ser)

SNV
Germline

Chr13:32340498

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387788255

rs_80358853

2 SubmittersRCV000694937 RCV003158037

NM_000059.4(BRCA2):c.6230A>C (p.Lys2077Thr)

SNV
Germline

Chr13:32340585

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA247513304

rs_955263930

3 SubmittersRCV000707293 RCV002360837

NM_000059.4(BRCA2):c.7449T>G (p.Ser2483Arg)

SNV
Germline

Chr13:32356441

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA387743039

rs_1566241861

3 SubmittersRCV000690621 RCV002386189 RCV004569295

NM_000059.4(BRCA2):c.8606T>A (p.Ile2869Asn)

SNV
Germline

Chr13:32371074

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387752907

rs_1566249383

2 SubmittersRCV000691491 RCV002442444

NM_000059.4(BRCA2):c.9536A>G (p.Lys3179Arg)

SNV
Germline

Chr13:32396932

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387763088

rs_1566260108

3 SubmittersRCV000688973 RCV000776763

NM_007294.4(BRCA1):c.5518G>A (p.Asp1840Asn)

SNV
Germline

Chr17:43045752

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10590285

rs_1567756588

4 SubmittersRCV000704104 RCV001076346 RCV003126915 RCV004026653

NM_007294.4(BRCA1):c.5374G>A (p.Val1792Met)

SNV
Germline

Chr17:43049153

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10590725

rs_1555575131

5 SubmittersRCV000705852 RCV001076853 RCV001772007

NM_007294.4(BRCA1):c.5074+4T>C

SNV
Germline

Chr17:43067604

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA891844421

rs_1567771887

3 SubmittersRCV000707206 RCV001076326 RCV002334395

NM_007294.4(BRCA1):c.4986+13A>G

SNV
Germline

Chr17:43070915

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA053528

rs_5031012

2 SubmittersRCV000701323 RCV000773121

NM_007294.4(BRCA1):c.4954A>T (p.Met1652Leu)

SNV
Germline

Chr17:43070960

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA10591614

rs_1348949389

3 SubmittersRCV000695271 RCV001023316 RCV001077350

NM_007294.4(BRCA1):c.3565A>T (p.Ser1189Cys)

SNV
Germline

Chr17:43091966

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10594833

rs_1567791142

3 SubmittersRCV000706453 RCV002334389

NM_007294.4(BRCA1):c.3526G>A (p.Val1176Ile)

SNV
Germline

Chr17:43092005

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA059403

rs_777796838

5 SubmittersRCV000685249 RCV001540322 RCV003157814 RCV003229598

NM_007294.4(BRCA1):c.3506A>G (p.Asp1169Gly)

SNV
Germline

Chr17:43092025

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10594959

rs_1323940169

2 SubmittersRCV000692819 RCV003158029

NM_007294.4(BRCA1):c.2917C>A (p.Leu973Ile)

SNV
Germline

Chr17:43092614

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
not specified

Criteria Provided
Conflicting Classifications

CA10596160

rs_80357080

6 SubmittersRCV000700169 RCV001525330 RCV003999701 RCV004586890

NM_007294.4(BRCA1):c.2885A>G (p.Glu962Gly)

SNV
Germline

Chr17:43092646

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Condition: not provided
Burkitt lymphoma
not specified
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA058234

rs_780367532

8 SubmittersRCV000695819 RCV000985394 RCV002285401 RCV002249412 RCV003158039 RCV003999645

NM_007294.4(BRCA1):c.2654T>A (p.Phe885Tyr)

SNV
Germline

Chr17:43092877

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10596687

rs_1567794788

2 SubmittersRCV000706428 RCV003158080

NM_007294.4(BRCA1):c.2608G>A (p.Ala870Thr)

SNV
Germline

Chr17:43092923

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA058426

rs_753256448

3 SubmittersRCV000687202 RCV002440429

NM_007294.4(BRCA1):c.2402G>A (p.Cys801Tyr)

SNV
Germline

Chr17:43093129

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA10597204

rs_1567795821

5 SubmittersRCV000705618 RCV001184336 RCV003999768

NM_007294.4(BRCA1):c.2393C>G (p.Pro798Arg)

SNV
Germline

Chr17:43093138

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10597222

rs_876660005

4 SubmittersRCV000691468 RCV002424624

NM_007294.4(BRCA1):c.2314G>A (p.Val772Ile)

SNV
Germline

Chr17:43093217

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10597375

rs_1567796129

3 SubmittersRCV000698553 RCV003158051

NM_007294.4(BRCA1):c.1979T>C (p.Val660Ala)

SNV
Germline

Chr17:43093552

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10598057

rs_1567797385

3 SubmittersRCV000695052 RCV001013939

NM_007294.4(BRCA1):c.1684A>G (p.Ile562Val)

SNV
Germline

Chr17:43093847

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10598663

rs_1567798727

4 SubmittersRCV000704532 RCV000775711

NM_007294.4(BRCA1):c.1553T>C (p.Ile518Thr)

SNV
Germline

Chr17:43093978

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10598940

rs_1567799193

3 SubmittersRCV000706575 RCV003158081

NM_007294.4(BRCA1):c.1450G>A (p.Gly484Arg)

SNV
Germline

Chr17:43094081

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA10599141

rs_80357304

6 SubmittersRCV000688568 RCV001177424 RCV003317341 RCV004004284

NM_007294.4(BRCA1):c.1136T>C (p.Ile379Thr)

SNV
Germline

Chr17:43094395

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10599785

rs_1567800757

3 SubmittersRCV000703801 RCV002325427

NM_007294.4(BRCA1):c.1036C>G (p.Pro346Ala)

SNV
Germline

Chr17:43094495

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
not specified

Criteria Provided
Conflicting Classifications

CA10599986

rs_80357015

7 SubmittersRCV000695469 RCV000759484 RCV001017092 RCV001797784

NM_007294.4(BRCA1):c.869T>C (p.Leu290Ser)

SNV
Germline

Chr17:43094662

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10600339

rs_730881468

2 SubmittersRCV000693440 RCV003158032

NM_007294.4(BRCA1):c.523A>G (p.Lys175Glu)

SNV
Germline

Chr17:43099799

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
not specified
Hereditary cancer-predisposing syndrome
Familial cancer of breast
BRCA1-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA10601095

rs_1567806027

6 SubmittersRCV000697900 RCV001192477 RCV002334336 RCV003607342 RCV004802375

NM_000059.4(BRCA2):c.3547G>C (p.Glu1183Gln)

SNV
Germline

Chr13:32337902

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387777204

rs_1566228768

3 SubmittersRCV000708681 RCV003117505

NM_000059.4(BRCA2):c.3608G>A (p.Ser1203Asn)

SNV
Germline

Chr13:32337963

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA247505427

rs_745817393

4 SubmittersRCV000708682 RCV003117506

NM_133510.4(RAD51B):c.25G>A (p.Val9Met)

SNV
Germline

Chr14:67823568

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified

Criteria Provided
Conflicting Classifications

CA7240924

rs_34583846

3 SubmittersRCV000708742 RCV002225720 RCV004857728

NM_007294.4(BRCA1):c.5057A>C (p.His1686Pro)

SNV
Germline

Chr17:43067625

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10591406

rs_730882166

4 SubmittersRCV000708680 RCV001076300 RCV005092054

NM_002907.4(RECQL):c.1382A>G (p.His461Arg)

SNV
Germline

Chr12:21473616

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA6478761

rs_201573409

6 SubmittersRCV000709205 RCV001030655 RCV001303915 RCV004026767

NM_002907.4(RECQL):c.401C>T (p.Thr134Ile)

SNV
Germline

Chr12:21486579

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Condition: not provided
Seizure
Hereditary cancer
not specified
RECQL-related disorder

Criteria Provided
Conflicting Classifications

CA6479085

rs_150306543

8 SubmittersRCV001374530 RCV001494287 RCV001262455 RCV003492146 RCV002477639 RCV003945728

NM_000059.4(BRCA2):c.103C>T (p.Leu35Phe)

SNV
Germline

Chr13:32319112

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387754159

rs_1446479156

3 SubmittersRCV000988982 RCV004949888 RCV005092057

NM_000059.4(BRCA2):c.967G>A (p.Val323Ile)

SNV
Germline

Chr13:32332445

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2
not specified
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387760906

rs_1566222487

7 SubmittersRCV000709296 RCV000759693 RCV000988997 RCV001779067 RCV002386279

NM_000059.4(BRCA2):c.1471A>G (p.Thr491Ala)

SNV
Germline

Chr13:32332949

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA387764398

rs_1566223650

5 SubmittersRCV000709298 RCV001011762 RCV000989000 RCV004802402

NM_000059.4(BRCA2):c.1953T>G (p.Asp651Glu)

SNV
Germline

Chr13:32336308

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA6940568

rs_771442178

3 SubmittersRCV000989007 RCV003158087 RCV006464030

NM_000059.4(BRCA2):c.2576T>C (p.Val859Ala)

SNV
Germline

Chr13:32336931

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387772580

rs_1566226964

4 SubmittersRCV000709304 RCV000989016 RCV003158089

NM_000059.4(BRCA2):c.2998A>C (p.Ile1000Leu)

SNV
Germline

Chr13:32337353

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
not specified
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387774658

rs_1555282999

7 SubmittersRCV000709306 RCV000989020 RCV000779970 RCV002440559

NM_000059.4(BRCA2):c.6386A>G (p.Glu2129Gly)

SNV
Germline

Chr13:32340741

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387789202

rs_1566234469

6 SubmittersRCV000709326 RCV000758924 RCV000989052 RCV003158090

NM_000059.4(BRCA2):c.8488-2A>C

SNV
Germline

Chr13:32370954

Pathogenic/Likely pathogenic

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Multiple Submitters
No Conflicts

CA387752652

rs_773272765

2 SubmittersRCV000709335 RCV000989071

NM_000059.4(BRCA2):c.8754+9G>A

SNV
Germline

Chr13:32376800

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA6941290

rs_749435255

3 SubmittersRCV000989072 RCV000709336

NM_002878.4(RAD51D):c.192C>T (p.Phe64=)

SNV
Germline

Chr17:35118572

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 4
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA891844072

rs_1567735397

5 SubmittersRCV000709450 RCV002067001 RCV002406653

NM_002878.4(RAD51D):c.86T>C (p.Val29Ala)

SNV
Germline

Chr17:35119169

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 4
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA399092030

rs_1567735899

4 SubmittersRCV000709455 RCV000792440 RCV003165938

NM_007294.4(BRCA1):c.3682C>T (p.His1228Tyr)

SNV
Germline

Chr17:43091849

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10594601

rs_1567790599

4 SubmittersRCV000709474 RCV002458332

NM_007294.4(BRCA1):c.3047A>G (p.Asn1016Ser)

SNV
Germline

Chr17:43092484

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA10595897

rs_1567793123

8 SubmittersRCV000709478 RCV001188466 RCV000989894

NM_007294.4(BRCA1):c.2209A>G (p.Thr737Ala)

SNV
Germline

Chr17:43093322

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Fanconi anemia, complementation group S
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA10597579

rs_1567796585

6 SubmittersRCV000709481 RCV000989897 RCV001182697 RCV005367522

NM_007294.4(BRCA1):c.1997T>C (p.Leu666Pro)

SNV
Germline

Chr17:43093534

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10598017

rs_1567797346

3 SubmittersRCV000709483 RCV000989899 RCV003158091

NM_058216.3(RAD51C):c.760G>T (p.Asp254Tyr)

SNV
Germline

Chr17:58709913

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA400353685

rs_1567799662

3 SubmittersRCV000709512 RCV002388351

NM_000059.4(BRCA2):c.5247T>G (p.Tyr1749Ter)

SNV
Germline

Chr13:32339602

Pathogenic/Likely pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA387784696

rs_1566232050

3 SubmittersRCV000722069 RCV000775314 RCV006464104

NM_007294.4(BRCA1):c.5073A>T (p.Thr1691=)

SNV
Germline

Chr17:43067609

Pathogenic

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Single Submitter

CA500146297

rs_80356853

3 SubmittersRCV000735896 RCV001078000

NM_000059.4(BRCA2):c.6443C>T (p.Ser2148Phe)

SNV
Germline

Chr13:32340798

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387789318

rs_80358880

4 SubmittersRCV000755871 RCV001215857 RCV003158094

NM_007294.4(BRCA1):c.2283A>C (p.Glu761Asp)

SNV
Germline

Chr17:43093248

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10597434

rs_1567796302

4 SubmittersRCV000757933 RCV001187961

NM_000059.4(BRCA2):c.249G>C (p.Glu83Asp)

SNV
Germline

Chr13:32319258

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387754541

rs_1442324599

4 SubmittersRCV000758876 RCV001193141 RCV001855910 RCV004027165

NM_000059.4(BRCA2):c.369A>C (p.Lys123Asn)

SNV
Germline

Chr13:32325128

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
BRCA2-related disorder

Criteria Provided
Conflicting Classifications

CA387756628

rs_1566218165

6 SubmittersRCV000759603 RCV001020910 RCV001234415 RCV005249036 RCV004540083

NM_000059.4(BRCA2):c.931T>G (p.Cys311Gly)

SNV
Germline

Chr13:32332409

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA6940477

rs_61754140

5 SubmittersRCV000758973 RCV001186867 RCV001855911

NM_000059.4(BRCA2):c.1311A>G (p.Lys437=)

SNV
Germline

Chr13:32332789

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA483436699

rs_1566223261

3 SubmittersRCV000758862 RCV001456445 RCV004601264

NM_000059.4(BRCA2):c.1447G>T (p.Ala483Ser)

SNV
Germline

Chr13:32332925

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA387764322

rs_80358432

6 SubmittersRCV000759575 RCV000772721 RCV003645088 RCV003999904

NM_000059.4(BRCA2):c.2375A>G (p.Tyr792Cys)

SNV
Germline

Chr13:32336730

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387771806

rs_1566226599

3 SubmittersRCV000758873 RCV001301542 RCV003158097

NM_000059.4(BRCA2):c.2603C>T (p.Thr868Ile)

SNV
Germline

Chr13:32336958

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387772634

rs_1566227012

4 SubmittersRCV000759590 RCV001016079 RCV003768282

NM_000059.4(BRCA2):c.3617G>A (p.Gly1206Asp)

SNV
Germline

Chr13:32337972

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA387777566

rs_1410689747

5 SubmittersRCV000759600 RCV003158105 RCV003645089 RCV004802413

NM_000059.4(BRCA2):c.3639A>T (p.Glu1213Asp)

SNV
Germline

Chr13:32337994

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387777931

rs_1303026901

5 SubmittersRCV000759601 RCV001047451 RCV002458366

NM_000059.4(BRCA2):c.4062G>T (p.Thr1354=)

SNV
Germline

Chr13:32338417

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary breast ovarian cancer syndrome
not specified
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA483438153

rs_768735660

4 SubmittersRCV000759611 RCV002061030 RCV002509528 RCV002325460

NM_000059.4(BRCA2):c.4538A>T (p.Asp1513Val)

SNV
Germline

Chr13:32338893

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387781733

rs_1566230577

3 SubmittersRCV000759617 RCV001302164 RCV003158106

NM_000059.4(BRCA2):c.4568G>A (p.Gly1523Asp)

SNV
Germline

Chr13:32338923

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387781856

rs_879255451

5 SubmittersRCV000759618 RCV001312310 RCV003158107

NM_000059.4(BRCA2):c.4642G>A (p.Glu1548Lys)

SNV
Germline

Chr13:32338997

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387782149

rs_1566230862

4 SubmittersRCV000759619 RCV000791852 RCV003158108

NM_000059.4(BRCA2):c.5141A>T (p.Tyr1714Phe)

SNV
Germline

Chr13:32339496

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387784199

rs_1566231796

4 SubmittersRCV000758906 RCV003158099 RCV003768279

NM_000059.4(BRCA2):c.5384A>G (p.Lys1795Arg)

SNV
Germline

Chr13:32339739

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387785221

rs_1566232357

4 SubmittersRCV000759623 RCV002298757 RCV003158109

NM_000059.4(BRCA2):c.5667T>C (p.Ile1889=)

SNV
Germline

Chr13:32340022

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA247510854

rs_1053022395

5 SubmittersRCV000758911 RCV001176103 RCV001462564 RCV004802410

NM_000059.4(BRCA2):c.5905G>A (p.Val1969Ile)

SNV
Germline

Chr13:32340260

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387787504

rs_1566233487

4 SubmittersRCV000759632 RCV002352269 RCV003645090

NM_000059.4(BRCA2):c.6141T>G (p.Tyr2047Ter)

SNV
Germline

Chr13:32340496

Pathogenic

Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA387788246

rs_1466688245

4 SubmittersRCV000758919 RCV000781134 RCV001024938

NM_000059.4(BRCA2):c.6148G>T (p.Val2050Leu)

SNV
Germline

Chr13:32340503

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387788275

rs_80358854

4 SubmittersRCV000758920 RCV001319995 RCV003158100

NM_000059.4(BRCA2):c.6253T>C (p.Leu2085=)

SNV
Germline

Chr13:32340608

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA483438730

rs_761996223

3 SubmittersRCV000759637 RCV002067197 RCV006367311

NM_000059.4(BRCA2):c.6410A>G (p.Asn2137Ser)

SNV
Germline

Chr13:32340765

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387789260

rs_1566234528

4 SubmittersRCV000758927 RCV001025240 RCV001230790

NM_000059.4(BRCA2):c.6448A>G (p.Lys2150Glu)

SNV
Germline

Chr13:32340803

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
BRCA2-related cancer predisposition
not specified

Criteria Provided
Conflicting Classifications

CA387789325

rs_1403648108

7 SubmittersRCV000758930 RCV001370990 RCV001184370 RCV004802411 RCV006265261

NM_000059.4(BRCA2):c.6800C>G (p.Ser2267Ter)

SNV
Germline

Chr13:32341155

Pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA387791349

rs_377698594

3 SubmittersRCV000758935 RCV004601265 RCV006464147

NM_000059.4(BRCA2):c.6817A>G (p.Arg2273Gly)

SNV
Germline

Chr13:32341172

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified

Criteria Provided
Conflicting Classifications

CA387791420

rs_1566235443

6 SubmittersRCV000758937 RCV000799494 RCV002360871 RCV006268990

NM_000059.4(BRCA2):c.6839T>C (p.Val2280Ala)

SNV
Germline

Chr13:32341194

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
BRCA2-related cancer predisposition
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387791511

rs_1566235479

6 SubmittersRCV000758940 RCV000772891 RCV004802412 RCV003483716

NM_000059.4(BRCA2):c.7390C>G (p.Gln2464Glu)

SNV
Germline

Chr13:32355243

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA6941087

rs_572945276

4 SubmittersRCV000758946 RCV000779962 RCV001055218 RCV004027166

NM_000059.4(BRCA2):c.7494A>G (p.Lys2498=)

SNV
Germline

Chr13:32356486

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA483260378

rs_1566241948

3 SubmittersRCV000759656 RCV001494034 RCV002388382

NM_000059.4(BRCA2):c.7504C>A (p.Arg2502Ser)

SNV
Germline

Chr13:32356496

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Inherited ovarian cancer (without breast cancer)

Criteria Provided
Conflicting Classifications

CA387743431

rs_55716624

5 SubmittersRCV000759657 RCV001184251 RCV002533830 RCV004692220

NM_000059.4(BRCA2):c.7882A>T (p.Ile2628Leu)

SNV
Germline

Chr13:32362599

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387747111

rs_1483187442

3 SubmittersRCV000758954 RCV002406683 RCV006464148

NM_000059.4(BRCA2):c.8469A>G (p.Gln2823=)

SNV
Germline

Chr13:32370539

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA483261284

rs_1566248932

3 SubmittersRCV000758962 RCV001017847 RCV001059501

NM_000059.4(BRCA2):c.8562T>G (p.Tyr2854Ter)

SNV
Germline

Chr13:32371030

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary breast ovarian cancer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA387752803

rs_786201333

2 SubmittersRCV000759674 RCV001051589

NM_007294.4(BRCA1):c.4698T>G (p.Ser1566=)

SNV
Germline

Chr17:43071216

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA500231892

rs_1246456207

5 SubmittersRCV000759544 RCV001462491 RCV002334423 RCV003999903

NM_007294.4(BRCA1):c.3963C>G (p.Ser1321=)

SNV
Germline

Chr17:43091568

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA500232098

rs_1567789440

3 SubmittersRCV000759531 RCV001399337 RCV002370016

NM_007294.4(BRCA1):c.2833A>G (p.Ser945Gly)

SNV
Germline

Chr17:43092698

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA10596323

rs_1567794085

6 SubmittersRCV000759510 RCV001183591 RCV001869033 RCV003229602

NM_007294.4(BRCA1):c.2538A>C (p.Glu846Asp)

SNV
Germline

Chr17:43092993

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10596923

rs_1567795266

4 SubmittersRCV000758795 RCV001212955 RCV002458363

NM_007294.4(BRCA1):c.2058A>T (p.Glu686Asp)

SNV
Germline

Chr17:43093473

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA10597886

rs_1262148583

5 SubmittersRCV000758791 RCV003158096 RCV003645086 RCV003999897

NM_007294.4(BRCA1):c.1864G>A (p.Ala622Thr)

SNV
Germline

Chr17:43093667

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10598290

rs_1567797954

4 SubmittersRCV000759500 RCV001855918 RCV003158103

NM_007294.4(BRCA1):c.1813G>C (p.Ala605Pro)

SNV
Germline

Chr17:43093718

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary breast ovarian cancer syndrome
not specified
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10598390

rs_587781613

5 SubmittersRCV000759498 RCV001322526 RCV001824875 RCV003158102

NM_007294.4(BRCA1):c.1766G>A (p.Ser589Asn)

SNV
Germline

Chr17:43093765

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA10598494

rs_1567798335

4 SubmittersRCV000759497 RCV001307422 RCV003158101 RCV003999902

NM_007294.4(BRCA1):c.1683T>C (p.Ser561=)

SNV
Germline

Chr17:43093848

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA500232874

rs_1567798735

2 SubmittersRCV000758789 RCV003645085

NM_007294.4(BRCA1):c.1233T>C (p.Asp411=)

SNV
Germline

Chr17:43094298

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA500233513

rs_80357024

3 SubmittersRCV000759493 RCV001010470 RCV001442456

NM_000059.4(BRCA2):c.1910-1G>T

SNV
Germline

Chr13:32336264

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Multiple Submitters
No Conflicts

CA387768197

rs_1566225769

5 SubmittersRCV000759582 RCV000772386 RCV001378610 RCV003999905

NM_000059.4(BRCA2):c.7806-1G>A

SNV
Germline

Chr13:32362522

Pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA387746913

rs_81002860

3 SubmittersRCV000758953 RCV001026831 RCV003530094

NM_000059.4(BRCA2):c.5453C>A (p.Ser1818Ter)

SNV
Germline

Chr13:32339808

Pathogenic

Fanconi anemia complementation group D1
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA387785604

rs_1566232471

4 SubmittersRCV000761285 RCV001024132 RCV003478452 RCV003768291

NM_000059.4(BRCA2):c.5860A>G (p.Thr1954Ala)

SNV
Germline

Chr13:32340215

Conflicting classifications of pathogenicity

Breast and/or ovarian cancer
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Ovarian cancer
Condition: not provided
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA387787418

rs_1566233345

8 SubmittersRCV000770728 RCV001024614 RCV000812307 RCV003153829 RCV003478453 RCV003607344

NM_002485.5(NBN):c.297T>C (p.Phe99=)

SNV
Germline

Chr8:89981398

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA461831436

rs_1563580668

4 SubmittersRCV000772238 RCV001413593 RCV002225725

NM_000059.4(BRCA2):c.364A>G (p.Thr122Ala)

SNV
Germline

Chr13:32325123

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Malignant tumor of breast
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387756617

rs_1218108009

4 SubmittersRCV000774800 RCV001354288 RCV002536688

NM_000059.4(BRCA2):c.784G>C (p.Ala262Pro)

SNV
Germline

Chr13:32331021

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387760226

rs_397507393

4 SubmittersRCV000776409 RCV001302734

NM_000059.4(BRCA2):c.797T>G (p.Phe266Cys)

SNV
Germline

Chr13:32332275

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA387760340

rs_1566222067

5 SubmittersRCV000773473 RCV000791518 RCV004000015

NM_000059.4(BRCA2):c.822T>A (p.Phe274Leu)

SNV
Germline

Chr13:32332300

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA387760429

rs_1566222119

5 SubmittersRCV000775822 RCV001856122 RCV003159161

NM_000059.4(BRCA2):c.1004A>G (p.Glu335Gly)

SNV
Germline

Chr13:32332482

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified

Criteria Provided
Conflicting Classifications

CA387761068

rs_1566222581

5 SubmittersRCV000773844 RCV001055035 RCV006459892

NM_000059.4(BRCA2):c.1051A>G (p.Lys351Glu)

SNV
Germline

Chr13:32332529

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA247496494

rs_1003779807

5 SubmittersRCV000775857 RCV002304219 RCV005055135

NM_000059.4(BRCA2):c.1058C>T (p.Ser353Leu)

SNV
Germline

Chr13:32332536

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified

Criteria Provided
Conflicting Classifications

CA6940485

rs_769368098

5 SubmittersRCV000771533 RCV001064596 RCV003323718

NM_000059.4(BRCA2):c.1097T>C (p.Leu366Ser)

SNV
Germline

Chr13:32332575

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA387761536

rs_886040345

7 SubmittersRCV000775963 RCV000824337 RCV002265880 RCV002477777 RCV004001466

NM_000059.4(BRCA2):c.1159G>A (p.Val387Ile)

SNV
Germline

Chr13:32332637

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387761909

rs_869320791

4 SubmittersRCV000777328 RCV001869120

NM_000059.4(BRCA2):c.1222A>G (p.Met408Val)

SNV
Germline

Chr13:32332700

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387762131

rs_1566223036

4 SubmittersRCV000773547 RCV001246888

NM_000059.4(BRCA2):c.1271C>T (p.Ser424Leu)

SNV
Germline

Chr13:32332749

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387762383

rs_1566223138

3 SubmittersRCV000774250 RCV003768369

NM_000059.4(BRCA2):c.1322C>A (p.Thr441Asn)

SNV
Germline

Chr13:32332800

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387762655

rs_1064793062

4 SubmittersRCV000773894 RCV003493725 RCV003645103

NM_000059.4(BRCA2):c.1357C>G (p.Pro453Ala)

SNV
Germline

Chr13:32332835

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387762810

rs_1566223373

3 SubmittersRCV000774061 RCV001299678

NM_000059.4(BRCA2):c.1388C>T (p.Thr463Ile)

SNV
Germline

Chr13:32332866

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA387763077

rs_151011453

6 SubmittersRCV000777160 RCV003493728 RCV003530107 RCV004001491

NM_000059.4(BRCA2):c.1401G>T (p.Lys467Asn)

SNV
Germline

Chr13:32332879

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387764155

rs_276174808

3 SubmittersRCV000772832 RCV005092240

NM_000059.4(BRCA2):c.1570A>G (p.Met524Val)

SNV
Germline

Chr13:32333048

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA387764728

rs_1566223875

4 SubmittersRCV000772465 RCV003645096 RCV006450336

NM_000059.4(BRCA2):c.1655C>A (p.Ser552Tyr)

SNV
Germline

Chr13:32333133

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387765014

rs_1566224045

5 SubmittersRCV000777355 RCV001290668 RCV001211446

NM_000059.4(BRCA2):c.1661G>A (p.Cys554Tyr)

SNV
Germline

Chr13:32333139

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA6940531

rs_748215651

8 SubmittersRCV000772730 RCV000810961 RCV001284413 RCV004782542

NM_000059.4(BRCA2):c.1718C>G (p.Ala573Gly)

SNV
Germline

Chr13:32333196

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA387765328

rs_1262187089

6 SubmittersRCV000774021 RCV000779995 RCV000791628 RCV004803195

NM_000059.4(BRCA2):c.1819A>G (p.Lys607Glu)

SNV
Germline

Chr13:32333297

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387766054

rs_80358471

4 SubmittersRCV000775835 RCV002536702

NM_000059.4(BRCA2):c.1843A>T (p.Asn615Tyr)

SNV
Germline

Chr13:32333321

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387766301

rs_777641881

3 SubmittersRCV000777064 RCV001065241

NM_000059.4(BRCA2):c.1903G>C (p.Asp635His)

SNV
Germline

Chr13:32333381

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA387767354

rs_1566224604

5 SubmittersRCV000776413 RCV001856127 RCV004001469

NM_000059.4(BRCA2):c.1940G>C (p.Cys647Ser)

SNV
Germline

Chr13:32336295

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387768361

rs_1555282368

4 SubmittersRCV000777009 RCV005092295

NM_000059.4(BRCA2):c.2016A>C (p.Arg672Ser)

SNV
Germline

Chr13:32336371

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387768784

rs_1566225944

4 SubmittersRCV000772166 RCV003645094

NM_000059.4(BRCA2):c.2030C>G (p.Ser677Cys)

SNV
Germline

Chr13:32336385

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA387768874

rs_1555282410

4 SubmittersRCV000771649 RCV001856000 RCV002307610

NM_000059.4(BRCA2):c.2039C>T (p.Thr680Ile)

SNV
Germline

Chr13:32336394

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA387768923

rs_1566226005

5 SubmittersRCV000772333 RCV001201832 RCV004802419

NM_000059.4(BRCA2):c.2048C>T (p.Ser683Phe)

SNV
Germline

Chr13:32336403

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387768960

rs_1566226030

4 SubmittersRCV000773916 RCV003530101

NM_000059.4(BRCA2):c.2182G>T (p.Asp728Tyr)

SNV
Germline

Chr13:32336537

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387770383

rs_1566226248

3 SubmittersRCV000773466 RCV001856050

NM_000059.4(BRCA2):c.2221G>C (p.Val741Leu)

SNV
Germline

Chr13:32336576

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387770674

rs_80358493

4 SubmittersRCV000773603 RCV001035545

NM_000059.4(BRCA2):c.2270A>G (p.Lys757Arg)

SNV
Germline

Chr13:32336625

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA6940590

rs_763035556

7 SubmittersRCV000772735 RCV000942367 RCV001487620 RCV004802420

NM_000059.4(BRCA2):c.2556C>G (p.Asn852Lys)

SNV
Germline

Chr13:32336911

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387772536

rs_1566226932

3 SubmittersRCV000777070 RCV006612501

NM_000059.4(BRCA2):c.2581C>A (p.Gln861Lys)

SNV
Germline

Chr13:32336936

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6940614

rs_773356478

5 SubmittersRCV000772736 RCV002222190 RCV005870846

NM_000059.4(BRCA2):c.2602A>C (p.Thr868Pro)

SNV
Germline

Chr13:32336957

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA387772631

rs_1368861313

5 SubmittersRCV000776901 RCV000801001 RCV006452881

NM_000059.4(BRCA2):c.2725C>T (p.Leu909Phe)

SNV
Germline

Chr13:32337080

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA387773587

rs_876660858

5 SubmittersRCV000777493 RCV000819764 RCV004760778

NM_000059.4(BRCA2):c.2838T>A (p.Asp946Glu)

SNV
Germline

Chr13:32337193

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA387773879

rs_149753706

4 SubmittersRCV000777316 RCV002535604 RCV004001494

NM_000059.4(BRCA2):c.3068A>C (p.Asn1023Thr)

SNV
Germline

Chr13:32337423

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Hereditary breast ovarian cancer syndrome
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA6940659

rs_776196396

6 SubmittersRCV000772738 RCV002250693 RCV002536637 RCV004802421

NM_000059.4(BRCA2):c.3169A>C (p.Lys1057Gln)

SNV
Germline

Chr13:32337524

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified

Criteria Provided
Conflicting Classifications

CA387775802

rs_1566227924

5 SubmittersRCV000773389 RCV003645100 RCV004782543

NM_000059.4(BRCA2):c.3200C>T (p.Thr1067Ile)

SNV
Germline

Chr13:32337555

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387775864

rs_1555283092

4 SubmittersRCV000774531 RCV005092278

NM_000059.4(BRCA2):c.3325G>A (p.Ala1109Thr)

SNV
Germline

Chr13:32337680

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA387776251

rs_752886421

5 SubmittersRCV000773764 RCV002534095 RCV003238810

NM_000059.4(BRCA2):c.3346A>C (p.Thr1116Pro)

SNV
Germline

Chr13:32337701

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387776324

rs_786204212

4 SubmittersRCV000773034 RCV001850970

NM_000059.4(BRCA2):c.3379T>C (p.Phe1127Leu)

SNV
Germline

Chr13:32337734

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387776423

rs_1566228395

4 SubmittersRCV000777126 RCV001367116

NM_000059.4(BRCA2):c.3463A>G (p.Thr1155Ala)

SNV
Germline

Chr13:32337818

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA387776752

rs_1555283257

6 SubmittersRCV000776847 RCV000803792 RCV000985501 RCV003453609

NM_000059.4(BRCA2):c.3598T>G (p.Cys1200Gly)

SNV
Germline

Chr13:32337953

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA247505407

rs_80358607

3 SubmittersRCV000774657 RCV001873148

NM_000059.4(BRCA2):c.3638A>G (p.Glu1213Gly)

SNV
Germline

Chr13:32337993

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA387777927

rs_1566228880

5 SubmittersRCV000773512 RCV001856052 RCV006265265

NM_000059.4(BRCA2):c.3643G>A (p.Gly1215Arg)

SNV
Germline

Chr13:32337998

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387777937

rs_1366773950

4 SubmittersRCV000772219 RCV001232512

NM_000059.4(BRCA2):c.3649A>T (p.Arg1217Trp)

SNV
Germline

Chr13:32338004

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387777951

rs_1410046826

4 SubmittersRCV000772440 RCV001207043

NM_000059.4(BRCA2):c.3679C>G (p.Leu1227Val)

SNV
Germline

Chr13:32338034

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA387778008

rs_1566228950

6 SubmittersRCV000771765 RCV001856003 RCV001775988 RCV003999962

NM_000059.4(BRCA2):c.3854A>G (p.Glu1285Gly)

SNV
Germline

Chr13:32338209

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA6940730

rs_747103920

6 SubmittersRCV000771443 RCV000797506 RCV003483717 RCV004802418

NM_000059.4(BRCA2):c.3902C>T (p.Thr1301Ile)

SNV
Germline

Chr13:32338257

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Malignant tumor of breast
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387778796

rs_1455648880

6 SubmittersRCV000773740 RCV001328440 RCV001355499 RCV001873133

NM_000059.4(BRCA2):c.3904A>T (p.Thr1302Ser)

SNV
Germline

Chr13:32338259

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6940733

rs_543339423

5 SubmittersRCV000772744 RCV002061072 RCV004760772

NM_000059.4(BRCA2):c.3979G>T (p.Ala1327Ser)

SNV
Germline

Chr13:32338334

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387778952

rs_1566229476

4 SubmittersRCV000775013 RCV002534170

NM_000059.4(BRCA2):c.3982A>T (p.Ser1328Cys)

SNV
Germline

Chr13:32338337

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387778958

rs_1566229480

4 SubmittersRCV000772926 RCV001856034

NM_000059.4(BRCA2):c.4306A>G (p.Ile1436Val)

SNV
Germline

Chr13:32338661

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA6940768

rs_778282885

5 SubmittersRCV000772747 RCV000989028 RCV001217070

NM_000059.4(BRCA2):c.4363G>T (p.Glu1455Ter)

SNV
Germline

Chr13:32338718

Pathogenic

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Familial cancer of breast
Pancreatic cancer, susceptibility to, 2
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Multiple Submitters
No Conflicts

CA387780978

rs_1566230144

8 SubmittersRCV000776401 RCV001235864 RCV002477778 RCV004569466 RCV005358016 RCV005601103

NM_000059.4(BRCA2):c.4514C>T (p.Thr1505Ile)

SNV
Germline

Chr13:32338869

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387781635

rs_1566230463

4 SubmittersRCV000775846 RCV003530104

NM_000059.4(BRCA2):c.4690G>T (p.Ala1564Ser)

SNV
Germline

Chr13:32339045

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387782859

rs_1566230953

4 SubmittersRCV000771673 RCV000796263

NM_000059.4(BRCA2):c.4717T>C (p.Cys1573Arg)

SNV
Germline

Chr13:32339072

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified

Criteria Provided
Conflicting Classifications

CA247508296

rs_56054233

4 SubmittersRCV000772751 RCV003645097 RCV006459891

NM_000059.4(BRCA2):c.4748T>C (p.Ile1583Thr)

SNV
Germline

Chr13:32339103

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387783077

rs_1566231072

4 SubmittersRCV000772262 RCV001225173

NM_000059.4(BRCA2):c.4868A>C (p.Gln1623Pro)

SNV
Germline

Chr13:32339223

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA387783450

rs_75381894

6 SubmittersRCV000776972 RCV001234641 RCV006265268 RCV004803206

NM_000059.4(BRCA2):c.4912A>G (p.Lys1638Glu)

SNV
Germline

Chr13:32339267

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387783594

rs_886040553

3 SubmittersRCV000774220 RCV003530102

NM_000059.4(BRCA2):c.4919A>C (p.His1640Pro)

SNV
Germline

Chr13:32339274

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387783615

rs_373483754

4 SubmittersRCV000773732 RCV000808987

NM_000059.4(BRCA2):c.4943C>T (p.Ala1648Val)

SNV
Germline

Chr13:32339298

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387783721

rs_1449458592

4 SubmittersRCV000773190 RCV002534052

NM_000059.4(BRCA2):c.5221A>G (p.Ser1741Gly)

SNV
Germline

Chr13:32339576

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387784637

rs_1566232001

4 SubmittersRCV000776931 RCV003645110

NM_000059.4(BRCA2):c.5293A>G (p.Lys1765Glu)

SNV
Germline

Chr13:32339648

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387784792

rs_879255458

3 SubmittersRCV000772792 RCV001348718

NM_000059.4(BRCA2):c.5317G>A (p.Glu1773Lys)

SNV
Germline

Chr13:32339672

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA387784882

rs_1566232201

5 SubmittersRCV000777419 RCV001042289 RCV001772036

NM_000059.4(BRCA2):c.5317G>C (p.Glu1773Gln)

SNV
Germline

Chr13:32339672

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA387784883

rs_1566232201

5 SubmittersRCV000772421 RCV003645095 RCV003999967

NM_000059.4(BRCA2):c.5393A>G (p.Asn1798Ser)

SNV
Germline

Chr13:32339748

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387785280

rs_1566232376

3 SubmittersRCV000774853 RCV006612498

NM_000059.4(BRCA2):c.5431G>A (p.Glu1811Lys)

SNV
Germline

Chr13:32339786

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387785481

rs_1566232430

4 SubmittersRCV000777130 RCV003530106

NM_000059.4(BRCA2):c.5450C>T (p.Ser1817Phe)

SNV
Germline

Chr13:32339805

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387785593

rs_759741090

3 SubmittersRCV000776665 RCV003645108

NM_000059.4(BRCA2):c.5525C>T (p.Pro1842Leu)

SNV
Germline

Chr13:32339880

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387785894

rs_1331207836

4 SubmittersRCV000777584 RCV001036780

NM_000059.4(BRCA2):c.5604C>T (p.Asp1868=)

SNV
Germline

Chr13:32339959

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Fanconi anemia complementation group D1
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA483438751

rs_1401654517

4 SubmittersRCV000774480 RCV001113819 RCV001113820 RCV001464209

NM_000059.4(BRCA2):c.5660C>G (p.Thr1887Arg)

SNV
Germline

Chr13:32340015

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA387786180

rs_397507795

4 SubmittersRCV000774367 RCV000820814 RCV004773132

NM_000059.4(BRCA2):c.5757G>T (p.Lys1919Asn)

SNV
Germline

Chr13:32340112

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387787052

rs_1566233164

4 SubmittersRCV000773451 RCV001216131

NM_000059.4(BRCA2):c.5929A>G (p.Ile1977Val)

SNV
Germline

Chr13:32340284

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387787545

rs_1566233568

3 SubmittersRCV000771749 RCV006612493

NM_000059.4(BRCA2):c.5968G>A (p.Asp1990Asn)

SNV
Germline

Chr13:32340323

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA387787620

rs_1566233648

5 SubmittersRCV000776818 RCV001215284 RCV004001484

NM_000059.4(BRCA2):c.6026A>G (p.Gln2009Arg)

SNV
Germline

Chr13:32340381

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387787768

rs_1285547765

3 SubmittersRCV000772961 RCV001057879

NM_000059.4(BRCA2):c.6043T>C (p.Leu2015=)

SNV
Germline

Chr13:32340398

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA483439013

rs_1566233782

3 SubmittersRCV000773622 RCV000985556 RCV003645102

NM_000059.4(BRCA2):c.6202A>T (p.Ile2068Phe)

SNV
Germline

Chr13:32340557

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387788837

rs_755523944

4 SubmittersRCV000772971 RCV000795104

NM_000059.4(BRCA2):c.6382A>G (p.Lys2128Glu)

SNV
Germline

Chr13:32340737

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA6940947

rs_80358875

7 SubmittersRCV000772759 RCV000985564 RCV002534032 RCV004802422

NM_000059.4(BRCA2):c.6397T>C (p.Ser2133Pro)

SNV
Germline

Chr13:32340752

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387789228

rs_1566234482

4 SubmittersRCV000771488 RCV000793662

NM_000059.4(BRCA2):c.6400A>G (p.Asn2134Asp)

SNV
Germline

Chr13:32340755

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387789234

rs_1434431480

3 SubmittersRCV000776831 RCV001869114

NM_000059.4(BRCA2):c.6437A>G (p.Asn2146Ser)

SNV
Germline

Chr13:32340792

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
not specified
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA6940955

rs_768512381

7 SubmittersRCV000772761 RCV001856025 RCV003153830 RCV003493723 RCV003999981

NM_000059.4(BRCA2):c.6472T>C (p.Phe2158Leu)

SNV
Germline

Chr13:32340827

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387789402

rs_1566234702

3 SubmittersRCV000773436 RCV001856049

NM_000059.4(BRCA2):c.6477A>G (p.Gln2159=)

SNV
Germline

Chr13:32340832

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA483439047

rs_1566234713

3 SubmittersRCV000773994 RCV001230495

NM_000059.4(BRCA2):c.6509A>G (p.Lys2170Arg)

SNV
Germline

Chr13:32340864

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA387789574

rs_1252272917

5 SubmittersRCV000773364 RCV001344373 RCV004000006

NM_000059.4(BRCA2):c.6517C>T (p.Leu2173Phe)

SNV
Germline

Chr13:32340872

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387789609

rs_1566234827

4 SubmittersRCV000773928 RCV003768353

NM_000059.4(BRCA2):c.6635G>T (p.Cys2212Phe)

SNV
Germline

Chr13:32340990

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387790304

rs_1566235052

3 SubmittersRCV000774972 RCV006556656

NM_000059.4(BRCA2):c.6700T>C (p.Phe2234Leu)

SNV
Germline

Chr13:32341055

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA6940975

rs_769956199

7 SubmittersRCV000772767 RCV000985571 RCV002534033 RCV004802423

NM_000059.4(BRCA2):c.6766T>A (p.Cys2256Ser)

SNV
Germline

Chr13:32341121

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387791203

rs_559106452

3 SubmittersRCV000776904 RCV002298766

NM_000059.4(BRCA2):c.6781G>A (p.Glu2261Lys)

SNV
Germline

Chr13:32341136

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387791265

rs_876660812

4 SubmittersRCV000773485 RCV001856051

NM_000059.4(BRCA2):c.7025A>C (p.Gln2342Pro)

SNV
Germline

Chr13:32354878

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387794132

rs_1555285981

3 SubmittersRCV000777109 RCV001216834

NM_000059.4(BRCA2):c.7382A>G (p.Asn2461Ser)

SNV
Germline

Chr13:32355235

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387741718

rs_1566241260

3 SubmittersRCV000777431 RCV000819011

NM_000059.4(BRCA2):c.7594C>A (p.Pro2532Thr)

SNV
Germline

Chr13:32356586

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387743902

rs_397507388

3 SubmittersRCV000774404 RCV002536681

NM_000059.4(BRCA2):c.7601C>A (p.Ala2534Glu)

SNV
Germline

Chr13:32356593

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387743953

rs_74047012

3 SubmittersRCV000776756 RCV005092292

NM_000059.4(BRCA2):c.7847C>T (p.Ser2616Phe)

SNV
Germline

Chr13:32362564

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified

Criteria Provided
Conflicting Classifications

CA387747040

rs_1174303167

5 SubmittersRCV000776833 RCV001362915 RCV005240560

NM_000059.4(BRCA2):c.7919A>G (p.Lys2640Arg)

SNV
Germline

Chr13:32362636

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA387747182

rs_397507394

5 SubmittersRCV000773429 RCV001368345 RCV001800873 RCV002271584

NM_000059.4(BRCA2):c.8484A>G (p.Ile2828Met)

SNV
Germline

Chr13:32370554

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA247483644

rs_950154005

7 SubmittersRCV000771542 RCV000985603 RCV001060591 RCV003461024 RCV005601096

NM_000059.4(BRCA2):c.8550A>C (p.Glu2850Asp)

SNV
Germline

Chr13:32371018

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387752778

rs_1566249284

3 SubmittersRCV000777006 RCV001856139

NM_000059.4(BRCA2):c.9008G>A (p.Gly3003Glu)

SNV
Germline

Chr13:32379804

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Familial cancer of breast
Condition: not provided

Criteria Provided
Conflicting Classifications

CA387757458

rs_1566253139

7 SubmittersRCV000773599 RCV000799463 RCV003472294 RCV005243351

NM_000059.4(BRCA2):c.9403C>A (p.Leu3135Ile)

SNV
Germline

Chr13:32394835

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387761375

rs_55704151

3 SubmittersRCV000773137 RCV000820508

NM_000059.4(BRCA2):c.9457G>T (p.Gly3153Cys)

SNV
Germline

Chr13:32394889

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387761682

rs_1566259215

3 SubmittersRCV000774984 RCV006612499

NM_000059.4(BRCA2):c.9481A>G (p.Lys3161Glu)

SNV
Germline

Chr13:32394913

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387761803

rs_80359222

3 SubmittersRCV000777544 RCV001201868

NM_000059.4(BRCA2):c.9506T>C (p.Ile3169Thr)

SNV
Germline

Chr13:32396902

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387762844

rs_1244221685

3 SubmittersRCV000774963 RCV001873152

NM_000059.4(BRCA2):c.9671T>C (p.Ile3224Thr)

SNV
Germline

Chr13:32398184

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387765186

rs_1566260766

3 SubmittersRCV000777523 RCV001071908

NM_000059.4(BRCA2):c.9785A>C (p.Gln3262Pro)

SNV
Germline

Chr13:32398298

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387765948

rs_1566261012

3 SubmittersRCV000773733 RCV001037554

NM_000059.4(BRCA2):c.9856A>G (p.Ile3286Val)

SNV
Germline

Chr13:32398369

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387766539

rs_1566261093

3 SubmittersRCV000777068 RCV001873164

NM_000059.4(BRCA2):c.10070C>G (p.Thr3357Arg)

SNV
Germline

Chr13:32398583

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
Condition: not provided
Gastric cancer

Criteria Provided
Conflicting Classifications

CA6941469

rs_80358388

6 SubmittersRCV000772032 RCV001065564 RCV003317361 RCV003478457 RCV005897369

NM_000059.4(BRCA2):c.10138C>G (p.Leu3380Val)

SNV
Germline

Chr13:32398651

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387768125

rs_1566261456

2 SubmittersRCV000775006 RCV001856102

NM_000059.4(BRCA2):c.10163C>A (p.Thr3388Lys)

SNV
Germline

Chr13:32398676

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387768204

rs_1431008455

3 SubmittersRCV000773252 RCV001856043

NM_000059.4(BRCA2):c.10192C>T (p.Gln3398Ter)

SNV
Germline

Chr13:32398705

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified

Criteria Provided
Conflicting Classifications

CA387768362

rs_1566261530

4 SubmittersRCV000777586 RCV001470794 RCV001532897

NM_000059.4(BRCA2):c.10254C>G (p.Ile3418Met)

SNV
Germline

Chr13:32398767

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387768718

rs_1566261647

3 SubmittersRCV000776610 RCV001307275

NM_024675.4(PALB2):c.73A>T (p.Lys25Ter)

SNV
Germline

Chr16:23638105

Pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Hereditary breast ovarian cancer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA395139806

rs_1248579792

6 SubmittersRCV000772890 RCV001030115 RCV003155956

NM_007294.4(BRCA1):c.5588A>G (p.Tyr1863Cys)

SNV
Germline

Chr17:43045682

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10590149

rs_1567756242

3 SubmittersRCV000777498 RCV001235691

NM_007294.4(BRCA1):c.5408G>T (p.Gly1803Val)

SNV
Germline

Chr17:43047702

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA10590653

rs_80357149

5 SubmittersRCV000772536 RCV001045593 RCV001077368

NM_007294.4(BRCA1):c.5383C>A (p.Leu1795Ile)

SNV
Germline

Chr17:43049144

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10590708

rs_878854958

5 SubmittersRCV000773249 RCV001076856 RCV002534053

NM_007294.4(BRCA1):c.5152T>G (p.Trp1718Gly)

SNV
Germline

Chr17:43063874

Likely pathogenic

Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
BRCA1-related cancer predisposition

Reviewed By Expert Panel

CA10591241

rs_1567769155

7 SubmittersRCV000772239 RCV001076083 RCV001050456 RCV006261026

NM_007294.4(BRCA1):c.5141T>C (p.Val1714Ala)

SNV
Germline

Chr17:43063885

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA10591259

rs_80357243

4 SubmittersRCV000774667 RCV001061740 RCV001072337

NM_007294.4(BRCA1):c.5140G>T (p.Val1714Phe)

SNV
Germline

Chr17:43063886

Likely pathogenic

Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Condition: not provided
BRCA1-related cancer predisposition

Reviewed By Expert Panel

CA10591261

rs_1567769244

6 SubmittersRCV000777099 RCV001072335 RCV001254332 RCV001759466 RCV005415442

NM_007294.4(BRCA1):c.5087T>C (p.Val1696Ala)

SNV
Germline

Chr17:43063939

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10591349

rs_397509226

5 SubmittersRCV000777631 RCV001072239 RCV001350949 RCV005429035

NM_007294.4(BRCA1):c.4973C>A (p.Thr1658Asn)

SNV
Germline

Chr17:43070941

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified

Criteria Provided
Conflicting Classifications

CA10591581

rs_1015073230

5 SubmittersRCV000775095 RCV001042739 RCV001779075

NM_007294.4(BRCA1):c.4895T>G (p.Val1632Gly)

SNV
Germline

Chr17:43071019

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA10591734

rs_1397965282

6 SubmittersRCV000776974 RCV001036972 RCV001072804

NM_007294.4(BRCA1):c.4130G>A (p.Ser1377Asn)

SNV
Germline

Chr17:43090999

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10593465

rs_1567788442

3 SubmittersRCV000771507 RCV003645092

NM_007294.4(BRCA1):c.4111G>A (p.Gly1371Arg)

SNV
Germline

Chr17:43091018

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA059434

rs_774593602

5 SubmittersRCV000775147 RCV003316805 RCV003768385 RCV006261040

NM_007294.4(BRCA1):c.3753T>G (p.Cys1251Trp)

SNV
Germline

Chr17:43091778

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10594466

rs_397509098

4 SubmittersRCV000777511 RCV001869125

NM_007294.4(BRCA1):c.3706A>G (p.Asn1236Asp)

SNV
Germline

Chr17:43091825

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10594551

rs_1567790509

4 SubmittersRCV000774962 RCV001856101

NM_007294.4(BRCA1):c.3602G>A (p.Gly1201Asp)

SNV
Germline

Chr17:43091929

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10594762

rs_1567790971

4 SubmittersRCV000774966 RCV001038890

NM_007294.4(BRCA1):c.3551G>A (p.Gly1184Glu)

SNV
Germline

Chr17:43091980

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10594863

rs_1567791181

3 SubmittersRCV000775324 RCV001856110

NM_007294.4(BRCA1):c.3316C>T (p.Pro1106Ser)

SNV
Germline

Chr17:43092215

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10595352

rs_45599040

4 SubmittersRCV000775159 RCV002536696 RCV005241399

NM_007294.4(BRCA1):c.3218G>A (p.Gly1073Asp)

SNV
Germline

Chr17:43092313

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA058061

rs_757632961

4 SubmittersRCV000775161 RCV001856106

NM_007294.4(BRCA1):c.3207A>T (p.Gln1069His)

SNV
Germline

Chr17:43092324

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10595564

rs_1567792523

3 SubmittersRCV000777069 RCV006612500

NM_007294.4(BRCA1):c.3184G>A (p.Gly1062Ser)

SNV
Germline

Chr17:43092347

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10595619

rs_1567792594

3 SubmittersRCV000773019 RCV000799621

NM_007294.4(BRCA1):c.3163G>A (p.Gly1055Ser)

SNV
Germline

Chr17:43092368

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA058088

rs_749417532

6 SubmittersRCV000775162 RCV001572056 RCV005056531

NM_007294.4(BRCA1):c.3159A>C (p.Glu1053Asp)

SNV
Germline

Chr17:43092372

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10595665

rs_1567792698

6 SubmittersRCV000777018 RCV003323719 RCV003768414 RCV003478473

NM_007294.4(BRCA1):c.3116C>T (p.Ala1039Val)

SNV
Germline

Chr17:43092415

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10595751

rs_1173254670

5 SubmittersRCV000772846 RCV001218973 RCV004773128

NM_007294.4(BRCA1):c.3086A>G (p.Asn1029Ser)

SNV
Germline

Chr17:43092445

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Malignant tumor of breast
Condition: not provided

Criteria Provided
Conflicting Classifications

CA058119

rs_753286589

6 SubmittersRCV000775164 RCV001302703 RCV001357345 RCV002477770

NM_007294.4(BRCA1):c.3000G>C (p.Glu1000Asp)

SNV
Germline

Chr17:43092531

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10595999

rs_748410422

5 SubmittersRCV000773648 RCV001564802 RCV001856059

NM_007294.4(BRCA1):c.2993T>A (p.Leu998Gln)

SNV
Germline

Chr17:43092538

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10596010

rs_1567793330

5 SubmittersRCV000773595 RCV002268274 RCV003645101

NM_007294.4(BRCA1):c.2908A>G (p.Lys970Glu)

SNV
Germline

Chr17:43092623

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10596176

rs_1567793674

3 SubmittersRCV000774970 RCV003530103

NM_007294.4(BRCA1):c.2818G>C (p.Asp940His)

SNV
Germline

Chr17:43092713

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10596356

rs_80357077

3 SubmittersRCV000776919 RCV001856138

NM_007294.4(BRCA1):c.2791G>A (p.Val931Met)

SNV
Germline

Chr17:43092740

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA10596413

rs_763639161

5 SubmittersRCV000776796 RCV002535576 RCV004001483

NM_007294.4(BRCA1):c.2736G>T (p.Lys912Asn)

SNV
Germline

Chr17:43092795

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10596518

rs_1555589046

3 SubmittersRCV000772271 RCV001856013

NM_007294.4(BRCA1):c.2626G>A (p.Gly876Arg)

SNV
Germline

Chr17:43092905

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
BRCA1-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA10596743

rs_1567794885

5 SubmittersRCV000777401 RCV003645113 RCV004803210

NM_007294.4(BRCA1):c.2623C>T (p.Pro875Ser)

SNV
Germline

Chr17:43092908

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10596747

rs_866257451

4 SubmittersRCV000775166 RCV005092285

NM_007294.4(BRCA1):c.2618C>T (p.Ser873Leu)

SNV
Germline

Chr17:43092913

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10596758

rs_1567794912

4 SubmittersRCV000776926 RCV003645109

NM_007294.4(BRCA1):c.2546A>G (p.Glu849Gly)

SNV
Germline

Chr17:43092985

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10596902

rs_1567795227

4 SubmittersRCV000777420 RCV001856144

NM_007294.4(BRCA1):c.2531G>A (p.Ser844Asn)

SNV
Germline

Chr17:43093000

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA10596937

rs_56051266

6 SubmittersRCV000775167 RCV000811474 RCV003478465 RCV004001430

NM_007294.4(BRCA1):c.2355A>C (p.Leu785Phe)

SNV
Germline

Chr17:43093176

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome
BRCA1-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA10597299

rs_1567795966

8 SubmittersRCV000773754 RCV001290640 RCV001210889 RCV004802430

NM_007294.4(BRCA1):c.2300G>C (p.Ser767Thr)

SNV
Germline

Chr17:43093231

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10597401

rs_1567796202

3 SubmittersRCV000772876 RCV003530098

NM_007294.4(BRCA1):c.2243A>G (p.Lys748Arg)

SNV
Germline

Chr17:43093288

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10597513

rs_1567796448

4 SubmittersRCV000777575 RCV000985384 RCV006464209

NM_007294.4(BRCA1):c.2228A>G (p.Asn743Ser)

SNV
Germline

Chr17:43093303

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified

Criteria Provided
Conflicting Classifications

CA10597543

rs_1567796489

5 SubmittersRCV000773409 RCV001071988 RCV001824878

NM_007294.4(BRCA1):c.2117C>T (p.Pro706Leu)

SNV
Germline

Chr17:43093414

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
BRCA1-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA058811

rs_759655692

6 SubmittersRCV000773202 RCV001212251 RCV001553218 RCV004802428

NM_007294.4(BRCA1):c.2099T>C (p.Leu700Pro)

SNV
Germline

Chr17:43093432

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10597804

rs_1567797015

4 SubmittersRCV000777311 RCV002535603

NM_007294.4(BRCA1):c.2078A>G (p.Asp693Gly)

SNV
Germline

Chr17:43093453

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA057756

rs_756748588

7 SubmittersRCV000775170 RCV001193223 RCV001220512 RCV006261041

NM_007294.4(BRCA1):c.2042G>A (p.Ser681Asn)

SNV
Germline

Chr17:43093489

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
not specified
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA10597924

rs_1452826319

7 SubmittersRCV000775859 RCV000814382 RCV001585702 RCV002465771 RCV004001465

NM_007294.4(BRCA1):c.2038A>G (p.Lys680Glu)

SNV
Germline

Chr17:43093493

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10597933

rs_1135401850

4 SubmittersRCV000773721 RCV001856066

NM_007294.4(BRCA1):c.1954A>G (p.Lys652Glu)

SNV
Germline

Chr17:43093577

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 1
Pancreatic cancer, susceptibility to, 4
Fanconi anemia, complementation group S

Criteria Provided
Conflicting Classifications

CA10598112

rs_1567797589

5 SubmittersRCV000773193 RCV001217297 RCV001356675 RCV005021155

NM_007294.4(BRCA1):c.1903A>G (p.Asn635Asp)

SNV
Germline

Chr17:43093628

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10598220

rs_1567797783

5 SubmittersRCV000771181 RCV002533984 RCV004788163

NM_007294.4(BRCA1):c.1853G>C (p.Arg618Thr)

SNV
Germline

Chr17:43093678

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10598315

rs_876659527

3 SubmittersRCV000773028 RCV003530099

NM_007294.4(BRCA1):c.1805A>G (p.Asn602Ser)

SNV
Germline

Chr17:43093726

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10598408

rs_1567798189

5 SubmittersRCV000772956 RCV003645098 RCV005367541

NM_007294.4(BRCA1):c.1679A>T (p.Asp560Val)

SNV
Germline

Chr17:43093852

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10598673

rs_1567798739

3 SubmittersRCV000773073 RCV001850971

NM_007294.4(BRCA1):c.1676G>A (p.Gly559Asp)

SNV
Germline

Chr17:43093855

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10598680

rs_80356980

6 SubmittersRCV000774960 RCV001221835 RCV001825515 RCV001766609

NM_007294.4(BRCA1):c.1670C>T (p.Thr557Ile)

SNV
Germline

Chr17:43093861

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10598691

rs_1567798771

3 SubmittersRCV000777127 RCV001063252

NM_007294.4(BRCA1):c.1655G>A (p.Gly552Asp)

SNV
Germline

Chr17:43093876

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10598724

rs_397508893

4 SubmittersRCV000777432 RCV001856145

NM_007294.4(BRCA1):c.1639A>T (p.Asn547Tyr)

SNV
Germline

Chr17:43093892

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10598758

rs_1060502351

4 SubmittersRCV000772385 RCV002534016

NM_007294.4(BRCA1):c.1631A>T (p.Gln544Leu)

SNV
Germline

Chr17:43093900

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
BRCA1-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA10598777

rs_397508892

6 SubmittersRCV000777334 RCV001283886 RCV002535607 RCV004803209

NM_007294.4(BRCA1):c.1409G>A (p.Ser470Asn)

SNV
Germline

Chr17:43094122

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10599231

rs_1567799713

4 SubmittersRCV000771411 RCV001203599

NM_007294.4(BRCA1):c.1270G>A (p.Gly424Ser)

SNV
Germline

Chr17:43094261

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA057134

rs_763051683

4 SubmittersRCV000775180 RCV001856107 RCV003413561

NM_007294.4(BRCA1):c.1187A>T (p.Asp396Val)

SNV
Germline

Chr17:43094344

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10599676

rs_1555592280

4 SubmittersRCV000773824 RCV002536662

NM_007294.4(BRCA1):c.1160C>G (p.Ser387Cys)

SNV
Germline

Chr17:43094371

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10599732

rs_1567800665

4 SubmittersRCV000774825 RCV003645105

NM_007294.4(BRCA1):c.1108G>C (p.Val370Leu)

SNV
Germline

Chr17:43094423

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified

Criteria Provided
Conflicting Classifications

CA10599841

rs_1567800850

5 SubmittersRCV000773010 RCV002534048 RCV005231314

NM_007294.4(BRCA1):c.932C>T (p.Pro311Leu)

SNV
Germline

Chr17:43094599

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA10600201

rs_1301795658

6 SubmittersRCV000773301 RCV000810336 RCV000985452 RCV004000000

NM_007294.4(BRCA1):c.910T>C (p.Phe304Leu)

SNV
Germline

Chr17:43094621

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10600253

rs_1567801570

4 SubmittersRCV000774310 RCV001044939 RCV006556654

NM_007294.4(BRCA1):c.880A>G (p.Lys294Glu)

SNV
Germline

Chr17:43094651

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10600317

rs_1567801705

4 SubmittersRCV000774079 RCV005092269

NM_007294.4(BRCA1):c.735T>A (p.Asp245Glu)

SNV
Germline

Chr17:43094796

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
BRCA1-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA10600612

rs_1567802284

5 SubmittersRCV000777408 RCV005092305 RCV004803211

NM_007294.4(BRCA1):c.701C>A (p.Thr234Lys)

SNV
Germline

Chr17:43094830

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10600686

rs_1555593290

6 SubmittersRCV000772908 RCV001175429 RCV001227361

NM_007294.4(BRCA1):c.697G>A (p.Val233Ile)

SNV
Germline

Chr17:43094834

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA10600695

rs_959797914

5 SubmittersRCV000775097 RCV000793987 RCV004001427

NM_007294.4(BRCA1):c.539T>C (p.Ile180Thr)

SNV
Germline

Chr17:43099783

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA10601063

rs_1567805965

3 SubmittersRCV000772205 RCV000810063 RCV005601097

NM_007294.4(BRCA1):c.483T>G (p.Thr161=)

SNV
Germline

Chr17:43099839

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA500124573

rs_1060504575

4 SubmittersRCV000773594 RCV001204476

NM_000059.4(BRCA2):c.8755-11A>G

SNV
Germline

Chr13:32379306

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA697349833

rs_1371032020

5 SubmittersRCV000776678 RCV001232585 RCV003472303 RCV003987701

NM_000059.4(BRCA2):c.425+6A>G

SNV
Germline

Chr13:32325190

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA913188543

rs_1428762163

2 SubmittersRCV000777460 RCV001306226

NM_000059.4(BRCA2):c.7007+9T>C

SNV
Germline

Chr13:32346905

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA913188608

rs_1566237887

3 SubmittersRCV000772864 RCV002465769 RCV006464185

NM_000059.4(BRCA2):c.9117+15T>C

SNV
Germline

Chr13:32379928

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA913188553

rs_1566253419

2 SubmittersRCV000773407 RCV002534061

NM_000059.4(BRCA2):c.7977-20A>G

SNV
Germline

Chr13:32363159

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA913188568

rs_1555286924

2 SubmittersRCV000774414 RCV002067296

NM_007294.4(BRCA1):c.5468-20C>T

SNV
Germline

Chr17:43045822

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA626075714

rs_1313891279

3 SubmittersRCV000774256 RCV001412010 RCV001788345

NM_000059.4(BRCA2):c.7805+6C>T

SNV
Germline

Chr13:32357935

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA913188544

rs_81002819

3 SubmittersRCV000774274 RCV001233744 RCV003316804

NM_007294.4(BRCA1):c.5193+11G>T

SNV
Germline

Chr17:43063322

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA913188789

rs_1567768534

4 SubmittersRCV000772863 RCV000989870 RCV001431204

NM_000059.4(BRCA2):c.8487+8G>T

SNV
Germline

Chr13:32370565

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6941234

rs_81002838

3 SubmittersRCV000773107 RCV000924771 RCV003478461

NM_000059.4(BRCA2):c.8488-3C>T

SNV
Germline

Chr13:32370953

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA913188610

rs_1566249158

4 SubmittersRCV000774992 RCV001873153 RCV006261039

NM_007294.4(BRCA1):c.4485-11T>C

SNV
Germline

Chr17:43074532

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA913188852

rs_1567778440

2 SubmittersRCV000771737 RCV002061058

NM_007294.4(BRCA1):c.5333-483T>G

SNV
Germline

Chr17:43049677

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA290818892

rs_967027857

3 SubmittersRCV000773065 RCV001856040

NM_007294.4(BRCA1):c.301+3A>G

SNV
Germline

Chr17:43104865

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA913188827

rs_1567810999

3 SubmittersRCV000772957 RCV000811476 RCV001072786

NM_007194.4(CHEK2):c.320-1G>T

SNV
Germline

Chr22:28725368

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Malignant tumor of breast
Familial cancer of breast
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA411108305

rs_864622613

8 SubmittersRCV000777567 RCV001355188 RCV002535623 RCV003479217 RCV005633672

NM_000059.4(BRCA2):c.8332-13T>G

SNV
Germline

Chr13:32370389

Pathogenic

Hereditary breast ovarian cancer syndrome

No Assertion Criteria Provided

CA915946893

rs_1593930050

1 SubmittersRCV000845283

NM_000059.4(BRCA2):c.8954-2A>T

SNV
Germline

Chr13:32379748

Likely pathogenic

Hereditary breast ovarian cancer syndrome

Criteria Provided
Single Submitter

CA387757353

rs_1135401928

2 SubmittersRCV000845285

NM_024675.4(PALB2):c.3201+5G>T

SNV
Germline

Chr16:23613999

Likely pathogenic

Hereditary breast ovarian cancer syndrome

Criteria Provided
Single Submitter

CA915949160

rs_1597073208

1 SubmittersRCV000845286

NM_007294.4(BRCA1):c.4185+4105C>T

SNV
Germline

Chr17:43086839

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
BRCA1-related cancer predisposition
Breast-ovarian cancer, familial, susceptibility to, 1
Fanconi anemia, complementation group S
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA915950066

rs_1597853155

7 SubmittersRCV000845280 RCV002332564 RCV003461051 RCV004783854 RCV004803213 RCV005392378

NM_000059.4(BRCA2):c.376C>T (p.Gln126Ter)

SNV
Germline

Chr13:32325135

Pathogenic/Likely pathogenic

Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA387756647

rs_1555280859

6 SubmittersRCV000781157 RCV001775998 RCV002343639

NM_000059.4(BRCA2):c.1153A>C (p.Lys385Gln)

SNV
Germline

Chr13:32332631

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387761883

rs_80358411

5 SubmittersRCV000781133 RCV001800882 RCV002535689 RCV003158128

NM_000059.4(BRCA2):c.1378A>C (p.Asn460His)

SNV
Germline

Chr13:32332856

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387762963

rs_1270441968

6 SubmittersRCV000779960 RCV001011236 RCV002250695 RCV003106057

NM_000059.4(BRCA2):c.1841T>C (p.Ile614Thr)

SNV
Germline

Chr13:32333319

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387766286

rs_1566224476

4 SubmittersRCV000780040 RCV002406708 RCV005092322

NM_000059.4(BRCA2):c.1876G>A (p.Glu626Lys)

SNV
Germline

Chr13:32333354

Conflicting classifications of pathogenicity

not specified
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387766627

rs_1566224551

4 SubmittersRCV000779964 RCV002535665 RCV003158114

NM_000059.4(BRCA2):c.2480A>G (p.Asn827Ser)

SNV
Germline

Chr13:32336835

Conflicting classifications of pathogenicity

not specified
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387772384

rs_1566226814

3 SubmittersRCV000780033 RCV001035152 RCV003158118

NM_000059.4(BRCA2):c.2633A>T (p.Asp878Val)

SNV
Germline

Chr13:32336988

Conflicting classifications of pathogenicity

not specified
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6940617

rs_765618026

4 SubmittersRCV000781117 RCV001064636 RCV003158127 RCV004569489

NM_000059.4(BRCA2):c.3185C>G (p.Pro1062Arg)

SNV
Germline

Chr13:32337540

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387775838

rs_564316199

5 SubmittersRCV000780005 RCV001284418 RCV001856181 RCV002325479

NM_000059.4(BRCA2):c.3512C>T (p.Pro1171Leu)

SNV
Germline

Chr13:32337867

Conflicting classifications of pathogenicity

not specified
Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Breast and/or ovarian cancer
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA387777012

rs_1566228707

8 SubmittersRCV000781144 RCV001856193 RCV002290028 RCV002458399 RCV003492170 RCV004803217

NM_000059.4(BRCA2):c.3796C>T (p.His1266Tyr)

SNV
Germline

Chr13:32338151

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387778395

rs_1566229153

3 SubmittersRCV000780009 RCV003158115 RCV003768452

NM_000059.4(BRCA2):c.3972T>G (p.Tyr1324Ter)

SNV
Germline

Chr13:32338327

Likely pathogenic

Hereditary breast ovarian cancer syndrome

Criteria Provided
Single Submitter

CA387778937

rs_1131692119

1 SubmittersRCV000779939

NM_000059.4(BRCA2):c.4085A>T (p.His1362Leu)

SNV
Germline

Chr13:32338440

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
BRCA2-related cancer predisposition
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387779199

rs_1060502441

4 SubmittersRCV000781056 RCV003158125 RCV004803216 RCV005092329

NM_000059.4(BRCA2):c.4190A>C (p.Glu1397Ala)

SNV
Germline

Chr13:32338545

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387780164

rs_1566229868

4 SubmittersRCV000779973 RCV002332567 RCV003530111

NM_000059.4(BRCA2):c.4822G>T (p.Glu1608Ter)

SNV
Germline

Chr13:32339177

Likely pathogenic

Hereditary breast ovarian cancer syndrome
Gastric cancer

Criteria Provided
Single Submitter

CA387783300

rs_1566231194

2 SubmittersRCV000780037 RCV003166068

NM_000059.4(BRCA2):c.4921G>T (p.Glu1641Ter)

SNV
Germline

Chr13:32339276

Pathogenic/Likely pathogenic

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA387783625

rs_1566231364

3 SubmittersRCV000779928 RCV002334452

NM_000059.4(BRCA2):c.5009C>T (p.Ala1670Val)

SNV
Germline

Chr13:32339364

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387783940

rs_1566231551

5 SubmittersRCV000780010 RCV001188711 RCV006612506

NM_000059.4(BRCA2):c.6641C>T (p.Thr2214Ile)

SNV
Germline

Chr13:32340996

Conflicting classifications of pathogenicity

not specified
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387790339

rs_1566235063

6 SubmittersRCV000781158 RCV000795801 RCV001025490

NM_000059.4(BRCA2):c.6787G>A (p.Val2263Ile)

SNV
Germline

Chr13:32341142

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
BRCA2-related disorder

Criteria Provided
Conflicting Classifications

CA387791295

rs_1566235410

6 SubmittersRCV000779956 RCV001025643 RCV001327053 RCV001577122 RCV004527809

NM_000059.4(BRCA2):c.7423G>T (p.Glu2475Ter)

SNV
Germline

Chr13:32355276

Pathogenic/Likely pathogenic

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA387742006

rs_1566241336

2 SubmittersRCV000781099 RCV002386365

NM_000059.4(BRCA2):c.8923G>A (p.Val2975Ile)

SNV
Germline

Chr13:32379485

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA247493447

rs_1006688520

4 SubmittersRCV000781152 RCV001018512 RCV001869158 RCV003493730

NM_000059.4(BRCA2):c.9748T>A (p.Ser3250Thr)

SNV
Germline

Chr13:32398261

Conflicting classifications of pathogenicity

not specified
Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA387765653

rs_1173590589

6 SubmittersRCV000781068 RCV002535688 RCV003478483 RCV004027322 RCV004569488

NM_024675.4(PALB2):c.2012T>G (p.Leu671Ter)

SNV
Germline

Chr16:23630142

Pathogenic/Likely pathogenic

Familial cancer of breast
Malignant tumor of breast
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA7963637

rs_755263466

7 SubmittersRCV000780570 RCV001355597 RCV002422668 RCV003155957

NM_007294.4(BRCA1):c.3674G>C (p.Cys1225Ser)

SNV
Germline

Chr17:43091857

Conflicting classifications of pathogenicity

not specified
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10594620

rs_1567790638

4 SubmittersRCV000779864 RCV000820271 RCV002458394

NM_007294.4(BRCA1):c.3524C>T (p.Ala1175Val)

SNV
Germline

Chr17:43092007

Conflicting classifications of pathogenicity

not specified
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10594920

rs_1567791322

4 SubmittersRCV000779870 RCV001856180 RCV003158112

NM_007294.4(BRCA1):c.2404G>A (p.Val802Met)

SNV
Germline

Chr17:43093127

Conflicting classifications of pathogenicity

not specified
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10597201

rs_876660885

3 SubmittersRCV000780983 RCV001309194 RCV003158120

NM_007294.4(BRCA1):c.2090T>A (p.Phe697Tyr)

SNV
Germline

Chr17:43093441

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10597822

rs_730881476

5 SubmittersRCV000780993 RCV001525937 RCV002536869

NM_007294.4(BRCA1):c.1310A>G (p.His437Arg)

SNV
Germline

Chr17:43094221

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA10599433

rs_80357255

7 SubmittersRCV000780979 RCV001010894 RCV001051363 RCV003316807

NM_007294.4(BRCA1):c.4358-4A>G

SNV
Germline

Chr17:43076618

Conflicting classifications of pathogenicity

not specified
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA913190345

rs_1567779976

2 SubmittersRCV000779857 RCV006629208

NM_000546.6(TP53):c.919+2T>A

SNV
Germline

Chr17:7673699

Likely pathogenic

Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Single Submitter

CA397836240

rs_1131691016

2 SubmittersRCV000782138 RCV003884726

NM_007294.4(BRCA1):c.4093T>G (p.Leu1365Val)

SNV
Germline

Chr17:43091438

Conflicting classifications of pathogenicity

Ovarian neoplasm
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10593772

rs_1567788936

4 SubmittersRCV000785412 RCV002325488 RCV003530112

NM_000251.3(MSH2):c.2209A>G (p.Arg737Gly)

SNV
Germline

Chr2:47476570

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA346729437

rs_1573570754

5 SubmittersRCV000798577 RCV001030714 RCV001014790 RCV001592981 RCV006452895

NM_021930.6(RINT1):c.448A>C (p.Ser150Arg)

SNV
Germline

Chr7:105542582

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary breast ovarian cancer syndrome
not specified

Criteria Provided
Conflicting Classifications

CA4426427

rs_780699445

4 SubmittersRCV000812606 RCV001030663 RCV004028774

NM_021930.6(RINT1):c.1603C>T (p.Arg535Ter)

SNV
Germline

Chr7:105555159

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary breast ovarian cancer syndrome
not specified

Criteria Provided
Conflicting Classifications

CA4426714

rs_764298491

3 SubmittersRCV000813788 RCV001030666 RCV004028801

NM_000059.4(BRCA2):c.137C>G (p.Pro46Arg)

SNV
Germline

Chr13:32319146

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387754256

rs_1216148236

3 SubmittersRCV000795320 RCV001188266

NM_000059.4(BRCA2):c.314T>A (p.Leu105Ter)

SNV
Germline

Chr13:32319323

Pathogenic

Hereditary breast ovarian cancer syndrome

Criteria Provided
Single Submitter

CA387754728

rs_80358561

1 SubmittersRCV000802493

NM_000059.4(BRCA2):c.442T>A (p.Cys148Ser)

SNV
Germline

Chr13:32326117

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Low grade glioma

Criteria Provided
Conflicting Classifications

CA387757054

rs_80358677

3 SubmittersRCV000806018 RCV002332646 RCV006454708

NM_000059.4(BRCA2):c.497A>G (p.His166Arg)

SNV
Germline

Chr13:32326263

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA387757685

rs_876658364

3 SubmittersRCV000791834 RCV002334464 RCV003453638

NM_000059.4(BRCA2):c.748G>A (p.Val250Met)

SNV
Germline

Chr13:32330985

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided

Criteria Provided
Conflicting Classifications

CA387760086

rs_1593890284

5 SubmittersRCV000794730 RCV001188264 RCV004569531 RCV004997324

NM_000059.4(BRCA2):c.855G>T (p.Lys285Asn)

SNV
Germline

Chr13:32332333

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA387760546

rs_1389778857

5 SubmittersRCV000806953 RCV001189240 RCV006633950

NM_000059.4(BRCA2):c.866A>G (p.Asn289Ser)

SNV
Germline

Chr13:32332344

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387760584

rs_1593891336

3 SubmittersRCV000822597 RCV002372354

NM_000059.4(BRCA2):c.875A>C (p.Glu292Ala)

SNV
Germline

Chr13:32332353

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387760609

rs_1593891360

2 SubmittersRCV000821316 RCV003158243

NM_000059.4(BRCA2):c.886T>A (p.Tyr296Asn)

SNV
Germline

Chr13:32332364

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387760650

rs_1347459118

2 SubmittersRCV000814047 RCV003158212

NM_000059.4(BRCA2):c.901G>T (p.Asp301Tyr)

SNV
Germline

Chr13:32332379

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387760678

rs_1555281626

2 SubmittersRCV000822323 RCV003158249

NM_000059.4(BRCA2):c.989A>G (p.Lys330Arg)

SNV
Germline

Chr13:32332467

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387760994

rs_1593891700

2 SubmittersRCV000806356 RCV003158188

NM_000059.4(BRCA2):c.1016A>G (p.Asp339Gly)

SNV
Germline

Chr13:32332494

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387761107

rs_1244056899

3 SubmittersRCV000804389 RCV001017009

NM_000059.4(BRCA2):c.1064T>C (p.Val355Ala)

SNV
Germline

Chr13:32332542

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387761363

rs_1593891845

2 SubmittersRCV000814843 RCV003158214

NM_000059.4(BRCA2):c.1281C>A (p.Asp427Glu)

SNV
Germline

Chr13:32332759

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387762433

rs_772430226

2 SubmittersRCV000803854 RCV003158174

NM_000059.4(BRCA2):c.1347T>G (p.Ile449Met)

SNV
Germline

Chr13:32332825

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387762758

rs_755908353

2 SubmittersRCV000803832 RCV003158173

NM_000059.4(BRCA2):c.1384G>T (p.Glu462Ter)

SNV
Germline

Chr13:32332862

Pathogenic

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA387763030

rs_1593892698

2 SubmittersRCV000815236 RCV002390651

NM_000059.4(BRCA2):c.1386A>C (p.Glu462Asp)

SNV
Germline

Chr13:32332864

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387763041

rs_1593892709

2 SubmittersRCV000806938 RCV003158191

NM_000059.4(BRCA2):c.1463T>A (p.Ile488Lys)

SNV
Germline

Chr13:32332941

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387764373

rs_80358436

2 SubmittersRCV000802370 RCV003158168

NM_000059.4(BRCA2):c.1592A>G (p.Lys531Arg)

SNV
Germline

Chr13:32333070

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387764801

rs_876658771

4 SubmittersRCV000814013 RCV003158211

NM_000059.4(BRCA2):c.1606T>A (p.Ser536Thr)

SNV
Germline

Chr13:32333084

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA387764851

rs_1227088794

4 SubmittersRCV000805866 RCV002397639 RCV006261091

NM_000059.4(BRCA2):c.1639T>A (p.Ser547Thr)

SNV
Germline

Chr13:32333117

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387764956

rs_1593893412

2 SubmittersRCV000805775 RCV003158186

NM_000059.4(BRCA2):c.1682G>T (p.Gly561Val)

SNV
Germline

Chr13:32333160

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387765150

rs_1593893593

3 SubmittersRCV000804687 RCV002397634

NM_000059.4(BRCA2):c.1718C>T (p.Ala573Val)

SNV
Germline

Chr13:32333196

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA387765332

rs_1262187089

4 SubmittersRCV000816917 RCV002397700 RCV004001793

NM_000059.4(BRCA2):c.1741T>G (p.Ser581Ala)

SNV
Germline

Chr13:32333219

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387765439

rs_55667299

2 SubmittersRCV000819863 RCV003158235

NM_000059.4(BRCA2):c.1796C>G (p.Ser599Cys)

SNV
Germline

Chr13:32333274

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA6940541

rs_1046984

4 SubmittersRCV000813884 RCV001805890

NM_000059.4(BRCA2):c.1802A>G (p.Lys601Arg)

SNV
Germline

Chr13:32333280

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387765880

rs_1593893911

4 SubmittersRCV000815121 RCV001525408

NM_000059.4(BRCA2):c.1871C>T (p.Ala624Val)

SNV
Germline

Chr13:32333349

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Ovarian cancer

Criteria Provided
Conflicting Classifications

CA6940546

rs_769698255

5 SubmittersRCV000815133 RCV002406850 RCV003153856

NM_000059.4(BRCA2):c.1874T>C (p.Phe625Ser)

SNV
Germline

Chr13:32333352

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387766610

rs_587779359

3 SubmittersRCV000795506 RCV003158146

NM_000059.4(BRCA2):c.1942T>A (p.Ser648Thr)

SNV
Germline

Chr13:32336297

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA387768372

rs_1593895835

3 SubmittersRCV000801031 RCV003158164 RCV003607361

NM_000059.4(BRCA2):c.1955C>T (p.Ser652Phe)

SNV
Germline

Chr13:32336310

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387768456

rs_1593895864

2 SubmittersRCV000808092 RCV003158196

NM_000059.4(BRCA2):c.1964C>T (p.Pro655Leu)

SNV
Germline

Chr13:32336319

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA387768507

rs_28897712

5 SubmittersRCV000822326 RCV003158250 RCV004002840

NM_000059.4(BRCA2):c.2030C>A (p.Ser677Tyr)

SNV
Germline

Chr13:32336385

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast and/or ovarian cancer
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387768873

rs_1555282410

4 SubmittersRCV000820096 RCV003150355 RCV003158238

NM_000059.4(BRCA2):c.2143G>A (p.Gly715Arg)

SNV
Germline

Chr13:32336498

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA247501456

rs_1007336407

3 SubmittersRCV000801531 RCV001014596

NM_000059.4(BRCA2):c.2249A>T (p.Asp750Val)

SNV
Germline

Chr13:32336604

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
8 conditions
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387770890

rs_1555282574

4 SubmittersRCV000821788 RCV002495176 RCV003158246

NM_000059.4(BRCA2):c.2280A>C (p.Leu760Phe)

SNV
Germline

Chr13:32336635

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified

Criteria Provided
Conflicting Classifications

CA387771131

rs_1593896537

5 SubmittersRCV000816378 RCV001186346 RCV004702451

NM_000059.4(BRCA2):c.2406T>A (p.Asn802Lys)

SNV
Germline

Chr13:32336761

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387771998

rs_1593896868

3 SubmittersRCV000815751 RCV003158218

NM_000059.4(BRCA2):c.2413T>C (p.Ser805Pro)

SNV
Germline

Chr13:32336768

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387772048

rs_1593896883

2 SubmittersRCV000806908 RCV003158190

NM_000059.4(BRCA2):c.2429C>G (p.Thr810Ser)

SNV
Germline

Chr13:32336784

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387772152

rs_80358509

3 SubmittersRCV000793669 RCV000985480 RCV003158141

NM_000059.4(BRCA2):c.2504C>T (p.Pro835Leu)

SNV
Germline

Chr13:32336859

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387772431

rs_1593897100

4 SubmittersRCV000796259 RCV003158149

NM_000059.4(BRCA2):c.2506C>T (p.Pro836Ser)

SNV
Germline

Chr13:32336861

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387772435

rs_1593897105

3 SubmittersRCV000792341 RCV002424793

NM_000059.4(BRCA2):c.2512A>T (p.Lys838Ter)

SNV
Germline

Chr13:32336867

Pathogenic

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Multiple Submitters
No Conflicts

CA387772446

rs_747578057

2 SubmittersRCV000800380 RCV000989013

NM_000059.4(BRCA2):c.2544G>C (p.Lys848Asn)

SNV
Germline

Chr13:32336899

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387772510

rs_78879762

3 SubmittersRCV000821730 RCV002427062

NM_000059.4(BRCA2):c.2574A>C (p.Arg858Ser)

SNV
Germline

Chr13:32336929

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387772574

rs_1593897255

2 SubmittersRCV000810185 RCV003158199

NM_000059.4(BRCA2):c.2580C>G (p.Ile860Met)

SNV
Germline

Chr13:32336935

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
not specified
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387772587

rs_1593897261

3 SubmittersRCV000800875 RCV002234722 RCV003158163

NM_000059.4(BRCA2):c.2651C>T (p.Ser884Leu)

SNV
Germline

Chr13:32337006

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA6940620

rs_777421358

5 SubmittersRCV000814978 RCV001016215 RCV004001769 RCV005367585

NM_000059.4(BRCA2):c.2672T>A (p.Val891Asp)

SNV
Germline

Chr13:32337027

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
not specified
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387773391

rs_1593897497

5 SubmittersRCV000803661 RCV001526975 RCV001180889

NM_000059.4(BRCA2):c.2689G>C (p.Glu897Gln)

SNV
Germline

Chr13:32337044

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387773452

rs_979372317

3 SubmittersRCV000822513 RCV002453896

NM_000059.4(BRCA2):c.2782G>A (p.Val928Ile)

SNV
Germline

Chr13:32337137

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA387773708

rs_1593897751

3 SubmittersRCV000802528 RCV003158170 RCV004803232

NM_000059.4(BRCA2):c.2892A>C (p.Lys964Asn)

SNV
Germline

Chr13:32337247

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387774126

rs_587778119

2 SubmittersRCV000818818 RCV003158232

NM_000059.4(BRCA2):c.2956A>G (p.Asn986Asp)

SNV
Germline

Chr13:32337311

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA6940649

rs_760142268

4 SubmittersRCV000818579 RCV003158230 RCV004001813

NM_000059.4(BRCA2):c.2962G>T (p.Asp988Tyr)

SNV
Germline

Chr13:32337317

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387774466

rs_1593898237

2 SubmittersRCV000807939 RCV003158194

NM_000059.4(BRCA2):c.3011G>A (p.Ser1004Asn)

SNV
Germline

Chr13:32337366

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387774747

rs_1593898366

3 SubmittersRCV000793104 RCV001191420

NM_000059.4(BRCA2):c.3043A>C (p.Lys1015Gln)

SNV
Germline

Chr13:32337398

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387775011

rs_397507652

2 SubmittersRCV000808370 RCV003158197

NM_000059.4(BRCA2):c.3054G>C (p.Lys1018Asn)

SNV
Germline

Chr13:32337409

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387775082

rs_368404583

2 SubmittersRCV000820687 RCV003158241

NM_000059.4(BRCA2):c.3064C>A (p.His1022Asn)

SNV
Germline

Chr13:32337419

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387775123

rs_765882871

2 SubmittersRCV000819707 RCV003158234

NM_000059.4(BRCA2):c.3081C>A (p.Ser1027Arg)

SNV
Germline

Chr13:32337436

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387775216

rs_1593898540

2 SubmittersRCV000792575 RCV003158133

NM_000059.4(BRCA2):c.3094A>T (p.Lys1032Ter)

SNV
Germline

Chr13:32337449

Pathogenic

Hereditary breast ovarian cancer syndrome

Criteria Provided
Single Submitter

CA387775297

rs_1593898563

1 SubmittersRCV000812292

NM_000059.4(BRCA2):c.3125T>C (p.Leu1042Ser)

SNV
Germline

Chr13:32337480

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387775714

rs_1593898642

2 SubmittersRCV000806071 RCV003158187

NM_000059.4(BRCA2):c.3139A>G (p.Ile1047Val)

SNV
Germline

Chr13:32337494

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387775744

rs_1593898670

2 SubmittersRCV000797217 RCV003158152

NM_000059.4(BRCA2):c.3172A>C (p.Lys1058Gln)

SNV
Germline

Chr13:32337527

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387775809

rs_730881521

4 SubmittersRCV000817759 RCV001192229

NM_000059.4(BRCA2):c.3320A>C (p.Gln1107Pro)

SNV
Germline

Chr13:32337675

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387776237

rs_1593899174

4 SubmittersRCV000804215 RCV002325556

NM_000059.4(BRCA2):c.3352T>G (p.Leu1118Val)

SNV
Germline

Chr13:32337707

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387776348

rs_1593899300

3 SubmittersRCV000799918 RCV003158159

NM_000059.4(BRCA2):c.3355G>C (p.Glu1119Gln)

SNV
Germline

Chr13:32337710

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387776360

rs_1593899314

2 SubmittersRCV000816667 RCV003158221

NM_000059.4(BRCA2):c.3400A>G (p.Ser1134Gly)

SNV
Germline

Chr13:32337755

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387776469

rs_1593899420

2 SubmittersRCV000823869 RCV003158253

NM_000059.4(BRCA2):c.3448A>T (p.Thr1150Ser)

SNV
Germline

Chr13:32337803

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA247505019

rs_367789070

4 SubmittersRCV000804974 RCV003158180

NM_000059.4(BRCA2):c.3491T>A (p.Leu1164His)

SNV
Germline

Chr13:32337846

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA6940700

rs_746847103

2 SubmittersRCV000821736 RCV003158245

NM_000059.4(BRCA2):c.3514T>G (p.Ser1172Ala)

SNV
Germline

Chr13:32337869

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387777019

rs_1593899773

2 SubmittersRCV000793238 RCV003158139

NM_000059.4(BRCA2):c.3530A>C (p.Asp1177Ala)

SNV
Germline

Chr13:32337885

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA6940702

rs_761130568

3 SubmittersRCV000818474 RCV001020540

NM_000059.4(BRCA2):c.3554C>T (p.Thr1185Ile)

SNV
Germline

Chr13:32337909

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA387777248

rs_1593899867

4 SubmittersRCV000804164 RCV003158176 RCV005359556

NM_000059.4(BRCA2):c.3569G>T (p.Arg1190Leu)

SNV
Germline

Chr13:32337924

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387777328

rs_80358605

2 SubmittersRCV000824635 RCV003158256

NM_000059.4(BRCA2):c.3600T>A (p.Cys1200Ter)

SNV
Germline

Chr13:32337955

Pathogenic/Likely pathogenic

Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA387777493

rs_786203359

2 SubmittersRCV000811958 RCV000985508

NM_000059.4(BRCA2):c.3635A>G (p.Asn1212Ser)

SNV
Germline

Chr13:32337990

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387777920

rs_80358609

3 SubmittersRCV000824352 RCV002453905

NM_000059.4(BRCA2):c.3650G>C (p.Arg1217Thr)

SNV
Germline

Chr13:32338005

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387777953

rs_1306577496

2 SubmittersRCV000795630 RCV003158147

NM_000059.4(BRCA2):c.3709G>A (p.Ala1237Thr)

SNV
Germline

Chr13:32338064

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387778065

rs_398122770

3 SubmittersRCV000794603 RCV003158144

NM_000059.4(BRCA2):c.3822G>T (p.Lys1274Asn)

SNV
Germline

Chr13:32338177

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387778493

rs_1555283410

2 SubmittersRCV000804303 RCV003158177

NM_000059.4(BRCA2):c.3827A>G (p.Glu1276Gly)

SNV
Germline

Chr13:32338182

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Medulloblastoma

Criteria Provided
Conflicting Classifications

CA387778517

rs_1060502487

7 SubmittersRCV000794044 RCV000985513 RCV001021235 RCV006454706

NM_000059.4(BRCA2):c.3859A>T (p.Asn1287Tyr)

SNV
Germline

Chr13:32338214

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA387778655

rs_1566229283

6 SubmittersRCV000813451 RCV001021305 RCV003322828

NM_000059.4(BRCA2):c.3932A>G (p.Glu1311Gly)

SNV
Germline

Chr13:32338287

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387778852

rs_1593900953

3 SubmittersRCV000807530 RCV002370154

NM_000059.4(BRCA2):c.3950C>T (p.Thr1317Ile)

SNV
Germline

Chr13:32338305

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387778892

rs_1593901002

2 SubmittersRCV000815820 RCV003158219

NM_000059.4(BRCA2):c.3968A>G (p.Lys1323Arg)

SNV
Germline

Chr13:32338323

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA387778927

rs_1593901051

4 SubmittersRCV000795521 RCV002325513 RCV003478492

NM_000059.4(BRCA2):c.4031A>C (p.Asn1344Thr)

SNV
Germline

Chr13:32338386

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387779065

rs_1593901214

3 SubmittersRCV000792764 RCV003158134

NM_000059.4(BRCA2):c.4042T>A (p.Cys1348Ser)

SNV
Germline

Chr13:32338397

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA6940741

rs_199863034

3 SubmittersRCV000792854 RCV003158135

NM_000059.4(BRCA2):c.4063G>A (p.Asp1355Asn)

SNV
Germline

Chr13:32338418

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387779137

rs_1593901299

3 SubmittersRCV000821925 RCV003158247

NM_000059.4(BRCA2):c.4220A>G (p.Glu1407Gly)

SNV
Germline

Chr13:32338575

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387780302

rs_1593901726

4 SubmittersRCV000817887 RCV001805894

NM_000059.4(BRCA2):c.4256A>T (p.Lys1419Ile)

SNV
Germline

Chr13:32338611

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA387780462

rs_1593901833

3 SubmittersRCV000797911 RCV003158153 RCV004997333

NM_000059.4(BRCA2):c.4268C>T (p.Thr1423Ile)

SNV
Germline

Chr13:32338623

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387780533

rs_1593901864

5 SubmittersRCV000824190 RCV001022181

NM_000059.4(BRCA2):c.4281T>G (p.Phe1427Leu)

SNV
Germline

Chr13:32338636

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387780616

rs_1593901912

2 SubmittersRCV000793051 RCV003158138

NM_000059.4(BRCA2):c.4351G>A (p.Asp1451Asn)

SNV
Germline

Chr13:32338706

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387780929

rs_1593902107

2 SubmittersRCV000794166 RCV003158143

NM_000059.4(BRCA2):c.4384T>G (p.Leu1462Val)

SNV
Germline

Chr13:32338739

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387781064

rs_1593902198

3 SubmittersRCV000816482 RCV001022395

NM_000059.4(BRCA2):c.4442A>T (p.Glu1481Val)

SNV
Germline

Chr13:32338797

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387781343

rs_1593902385

2 SubmittersRCV000793500 RCV003158140

NM_000059.4(BRCA2):c.4451A>G (p.Asp1484Gly)

SNV
Germline

Chr13:32338806

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387781373

rs_1327059542

3 SubmittersRCV000795494 RCV001188267

NM_000059.4(BRCA2):c.4582A>G (p.Ser1528Gly)

SNV
Germline

Chr13:32338937

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387781906

rs_1593902831

2 SubmittersRCV000803666 RCV003158172

NM_000059.4(BRCA2):c.4612T>C (p.Ser1538Pro)

SNV
Germline

Chr13:32338967

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA387782016

rs_1566230812

4 SubmittersRCV000821646 RCV003158244 RCV006250883

NM_000059.4(BRCA2):c.4696A>T (p.Thr1566Ser)

SNV
Germline

Chr13:32339051

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387782883

rs_1555283904

2 SubmittersRCV000820718 RCV003158242

NM_000059.4(BRCA2):c.4735G>A (p.Ala1579Thr)

SNV
Germline

Chr13:32339090

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387783036

rs_1566231045

3 SubmittersRCV000807955 RCV003158195

NM_000059.4(BRCA2):c.4808A>C (p.Asn1603Thr)

SNV
Germline

Chr13:32339163

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387783274

rs_890665355

2 SubmittersRCV000792219 RCV003158132

NM_000059.4(BRCA2):c.4849A>G (p.Ser1617Gly)

SNV
Germline

Chr13:32339204

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387783381

rs_80358707

2 SubmittersRCV000822052 RCV003158248

NM_000059.4(BRCA2):c.4853A>G (p.Asp1618Gly)

SNV
Germline

Chr13:32339208

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387783397

rs_1593903587

2 SubmittersRCV000804509 RCV003158178

NM_000059.4(BRCA2):c.4906A>C (p.Lys1636Gln)

SNV
Germline

Chr13:32339261

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387783572

rs_398122788

2 SubmittersRCV000811045 RCV003158204

NM_000059.4(BRCA2):c.4907A>G (p.Lys1636Arg)

SNV
Germline

Chr13:32339262

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387783577

rs_1593903754

3 SubmittersRCV000799810 RCV003158158

NM_000059.4(BRCA2):c.4923A>C (p.Glu1641Asp)

SNV
Germline

Chr13:32339278

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387783633

rs_1566231372

3 SubmittersRCV000818758 RCV001023272

NM_000059.4(BRCA2):c.4952C>A (p.Pro1651His)

SNV
Germline

Chr13:32339307

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387783760

rs_565268514

4 SubmittersRCV000811504 RCV001597217 RCV003158205

NM_000059.4(BRCA2):c.5029A>G (p.Arg1677Gly)

SNV
Germline

Chr13:32339384

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA387783978

rs_1593904196

4 SubmittersRCV000820530 RCV002336708 RCV004803268

NM_000059.4(BRCA2):c.5036C>G (p.Thr1679Ser)

SNV
Germline

Chr13:32339391

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387783992

rs_1593904210

3 SubmittersRCV000801443 RCV003158166

NM_000059.4(BRCA2):c.5048A>C (p.Gln1683Pro)

SNV
Germline

Chr13:32339403

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387784015

rs_587782738

2 SubmittersRCV000819147 RCV003158233

NM_000059.4(BRCA2):c.5077C>T (p.Leu1693Phe)

SNV
Germline

Chr13:32339432

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387784077

rs_1593904331

2 SubmittersRCV000792020 RCV003158131

NM_000059.4(BRCA2):c.5086G>A (p.Gly1696Arg)

SNV
Germline

Chr13:32339441

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387784089

rs_1593904356

3 SubmittersRCV000791533 RCV001023511

NM_000059.4(BRCA2):c.5108A>G (p.Glu1703Gly)

SNV
Germline

Chr13:32339463

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387784133

rs_746177907

2 SubmittersRCV000803856 RCV003158175

NM_000059.4(BRCA2):c.5135G>A (p.Gly1712Glu)

SNV
Germline

Chr13:32339490

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387784184

rs_1453037467

3 SubmittersRCV000798735 RCV002334506

NM_000059.4(BRCA2):c.5146T>C (p.Tyr1716His)

SNV
Germline

Chr13:32339501

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387784210

rs_1593904536

4 SubmittersRCV000810197 RCV002336665

NM_000059.4(BRCA2):c.5174C>T (p.Ala1725Val)

SNV
Germline

Chr13:32339529

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA387784538

rs_1593904638

5 SubmittersRCV000817832 RCV003158225 RCV004689896 RCV004720006

NM_000059.4(BRCA2):c.5211T>A (p.Asp1737Glu)

SNV
Germline

Chr13:32339566

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387784616

rs_1593904769

3 SubmittersRCV000815694 RCV003158217

NM_000059.4(BRCA2):c.5213C>A (p.Thr1738Asn)

SNV
Germline

Chr13:32339568

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387784622

rs_1593904785

3 SubmittersRCV000823385 RCV003158251

NM_000059.4(BRCA2):c.5294A>G (p.Lys1765Arg)

SNV
Germline

Chr13:32339649

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387784796

rs_1593905069

2 SubmittersRCV000793010 RCV003158137

NM_000059.4(BRCA2):c.5312G>C (p.Gly1771Ala)

SNV
Germline

Chr13:32339667

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387784868

rs_80358755

4 SubmittersRCV000821740 RCV001023906

NM_000059.4(BRCA2):c.5385A>T (p.Lys1795Asn)

SNV
Germline

Chr13:32339740

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387785231

rs_1593905343

3 SubmittersRCV000823594 RCV003158252

NM_000059.4(BRCA2):c.5427C>A (p.Cys1809Ter)

SNV
Germline

Chr13:32339782

Pathogenic

Hereditary breast ovarian cancer syndrome

Criteria Provided
Single Submitter

CA387785456

rs_80359791

1 SubmittersRCV000817829

NM_000059.4(BRCA2):c.5487G>C (p.Leu1829Phe)

SNV
Germline

Chr13:32339842

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387785744

rs_779967765

3 SubmittersRCV000810669 RCV003158203

NM_000059.4(BRCA2):c.5500A>T (p.Ser1834Cys)

SNV
Germline

Chr13:32339855

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387785794

rs_760602053

3 SubmittersRCV000795909 RCV003158148

NM_000059.4(BRCA2):c.5514G>T (p.Glu1838Asp)

SNV
Germline

Chr13:32339869

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387785853

rs_1593905671

2 SubmittersRCV000805672 RCV003158185

NM_000059.4(BRCA2):c.5518G>A (p.Gly1840Arg)

SNV
Germline

Chr13:32339873

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified

Criteria Provided
Conflicting Classifications

CA387785870

rs_398122533

4 SubmittersRCV000813362 RCV003158210 RCV003994125

NM_000059.4(BRCA2):c.5624A>C (p.Lys1875Thr)

SNV
Germline

Chr13:32339979

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6940890

rs_587782583

6 SubmittersRCV000791555 RCV001182539 RCV002250697 RCV005243360

NM_000059.4(BRCA2):c.5807T>G (p.Met1936Arg)

SNV
Germline

Chr13:32340162

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387787240

rs_1376128381

2 SubmittersRCV000792996 RCV003158136

NM_000059.4(BRCA2):c.5819A>G (p.Glu1940Gly)

SNV
Germline

Chr13:32340174

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA387787280

rs_1593906648

4 SubmittersRCV000800782 RCV002352359 RCV004001638

NM_000059.4(BRCA2):c.5835A>G (p.Ile1945Met)

SNV
Germline

Chr13:32340190

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA387787340

rs_1593906680

4 SubmittersRCV000817783 RCV002352440 RCV004001808

NM_000059.4(BRCA2):c.5885T>G (p.Ile1962Arg)

SNV
Germline

Chr13:32340240

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387787469

rs_1060502377

2 SubmittersRCV000805492 RCV003158183

NM_000059.4(BRCA2):c.5912C>T (p.Ser1971Phe)

SNV
Germline

Chr13:32340267

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387787516

rs_1593906913

3 SubmittersRCV000819622 RCV002352449

NM_000059.4(BRCA2):c.5936G>A (p.Ser1979Asn)

SNV
Germline

Chr13:32340291

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA501053

rs_1593906980

3 SubmittersRCV000793447 RCV002352317

NM_000059.4(BRCA2):c.6076A>T (p.Thr2026Ser)

SNV
Germline

Chr13:32340431

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387787992

rs_587782249

4 SubmittersRCV000807367 RCV001024864

NM_000059.4(BRCA2):c.6130G>C (p.Gly2044Arg)

SNV
Germline

Chr13:32340485

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA387788204

rs_1593907627

4 SubmittersRCV000791734 RCV003158130 RCV006261059

NM_000059.4(BRCA2):c.6224A>G (p.Lys2075Arg)

SNV
Germline

Chr13:32340579

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA387788879

rs_1593907916

3 SubmittersRCV000820445 RCV003158240 RCV004777900

NM_000059.4(BRCA2):c.6232G>T (p.Gly2078Ter)

SNV
Germline

Chr13:32340587

Pathogenic/Likely pathogenic

Hereditary breast ovarian cancer syndrome
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA387788894

rs_1555284605

4 SubmittersRCV000791739 RCV003472331 RCV005251223 RCV006261060

NM_000059.4(BRCA2):c.6260G>C (p.Arg2087Thr)

SNV
Germline

Chr13:32340615

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387788948

rs_1593908026

3 SubmittersRCV000801266 RCV003158165

NM_000059.4(BRCA2):c.6319C>A (p.Pro2107Thr)

SNV
Germline

Chr13:32340674

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA387789060

rs_1593908231

6 SubmittersRCV000817607 RCV001177191 RCV001759593

NM_000059.4(BRCA2):c.6406T>G (p.Leu2136Val)

SNV
Germline

Chr13:32340761

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified

Criteria Provided
Conflicting Classifications

CA387789249

rs_1231977477

4 SubmittersRCV000822457 RCV002363169 RCV005408000

NM_000059.4(BRCA2):c.6422G>T (p.Gly2141Val)

SNV
Germline

Chr13:32340777

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA6940951

rs_756885337

3 SubmittersRCV000807839 RCV001191355

NM_000059.4(BRCA2):c.6446T>G (p.Ile2149Ser)

SNV
Germline

Chr13:32340801

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387789322

rs_1593908714

2 SubmittersRCV000814468 RCV003158213

NM_000059.4(BRCA2):c.6455C>G (p.Ser2152Cys)

SNV
Germline

Chr13:32340810

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387789339

rs_80358881

3 SubmittersRCV000818496 RCV003158228

NM_000059.4(BRCA2):c.6529A>G (p.Ile2177Val)

SNV
Germline

Chr13:32340884

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA387789658

rs_1593908997

4 SubmittersRCV000799468 RCV001577655 RCV003158157 RCV004001626

NM_000059.4(BRCA2):c.6704T>C (p.Met2235Thr)

SNV
Germline

Chr13:32341059

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387790962

rs_1593909552

3 SubmittersRCV000811850 RCV003158206

NM_000059.4(BRCA2):c.6751C>T (p.His2251Tyr)

SNV
Germline

Chr13:32341106

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA387791141

rs_1260385979

4 SubmittersRCV000795503 RCV001025612 RCV006252463

NM_000059.4(BRCA2):c.6766T>C (p.Cys2256Arg)

SNV
Germline

Chr13:32341121

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA6940981

rs_559106452

4 SubmittersRCV000820020 RCV003158236 RCV005604799

NM_000059.4(BRCA2):c.7399G>A (p.Ala2467Thr)

SNV
Germline

Chr13:32355252

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387741823

rs_1593918596

2 SubmittersRCV000793625 RCV002386386

NM_000059.4(BRCA2):c.7526G>C (p.Ser2509Thr)

SNV
Germline

Chr13:32356518

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387743563

rs_1555286271

2 SubmittersRCV000809688 RCV005520351

NM_000059.4(BRCA2):c.7649T>A (p.Ile2550Lys)

SNV
Germline

Chr13:32357773

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387744909

rs_1593920698

2 SubmittersRCV000823278 RCV002390705

NM_000059.4(BRCA2):c.7714A>G (p.Ser2572Gly)

SNV
Germline

Chr13:32357838

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387745375

rs_1060502442

3 SubmittersRCV000820515 RCV001178490

NM_000059.4(BRCA2):c.7953G>C (p.Arg2651Ser)

SNV
Germline

Chr13:32362670

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA387747251

rs_752351454

3 SubmittersRCV000795905 RCV001026992 RCV003478493

NM_000059.4(BRCA2):c.8138C>A (p.Thr2713Asn)

SNV
Germline

Chr13:32363340

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided

Criteria Provided
Conflicting Classifications

CA387749469

rs_994319321

5 SubmittersRCV000815932 RCV003166348 RCV003461238 RCV004792522

NM_000059.4(BRCA2):c.8189C>G (p.Ala2730Gly)

SNV
Germline

Chr13:32363391

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Malignant tumor of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387749682

rs_80359067

4 SubmittersRCV000818861 RCV001356617 RCV003344077

NM_000059.4(BRCA2):c.8213C>T (p.Ala2738Val)

SNV
Germline

Chr13:32363415

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387749790

rs_1555287046

2 SubmittersRCV000816448 RCV001027291

NM_000059.4(BRCA2):c.8348C>T (p.Thr2783Ile)

SNV
Germline

Chr13:32370418

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387752383

rs_1555287610

3 SubmittersRCV000814257 RCV001776028 RCV002406846

NM_000059.4(BRCA2):c.8567A>T (p.Glu2856Val)

SNV
Germline

Chr13:32371035

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387752814

rs_11571747

2 SubmittersRCV000792539 RCV003344045

NM_000059.4(BRCA2):c.8605A>C (p.Ile2869Leu)

SNV
Germline

Chr13:32371073

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387752901

rs_1593931261

2 SubmittersRCV000793364 RCV001018083

NM_000059.4(BRCA2):c.8686C>A (p.Arg2896Ser)

SNV
Germline

Chr13:32376723

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387754792

rs_373203204

2 SubmittersRCV000799956 RCV001018177

NM_000059.4(BRCA2):c.8984A>G (p.Asp2995Gly)

SNV
Germline

Chr13:32379780

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387757413

rs_1593937365

2 SubmittersRCV000821694 RCV006367410

NM_000059.4(BRCA2):c.9340A>G (p.Ile3114Val)

SNV
Germline

Chr13:32394772

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast
not specified

Criteria Provided
Conflicting Classifications

CA387761045

rs_1555289545

4 SubmittersRCV000813020 RCV002372286 RCV003461213 RCV006265300

NM_000059.4(BRCA2):c.9368G>A (p.Ser3123Asn)

SNV
Germline

Chr13:32394800

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified

Criteria Provided
Conflicting Classifications

CA387761182

rs_1593199801

4 SubmittersRCV000803638 RCV004028150 RCV006459923

NM_000059.4(BRCA2):c.9667G>T (p.Glu3223Ter)

SNV
Germline

Chr13:32398180

Pathogenic

Hereditary breast ovarian cancer syndrome

Criteria Provided
Single Submitter

CA387765158

rs_1593201632

1 SubmittersRCV000792617

NM_000059.4(BRCA2):c.9971C>A (p.Pro3324Gln)

SNV
Germline

Chr13:32398484

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387767460

rs_1593202112

3 SubmittersRCV000795986 RCV001198192 RCV002386398

NM_000059.4(BRCA2):c.10078A>G (p.Lys3360Glu)

SNV
Germline

Chr13:32398591

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified

Criteria Provided
Conflicting Classifications

CA387767917

rs_1593202262

4 SubmittersRCV000803795 RCV001009673 RCV002268293

NM_000059.4(BRCA2):c.10232C>G (p.Thr3411Arg)

SNV
Germline

Chr13:32398745

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
not specified

Criteria Provided
Conflicting Classifications

CA247509748

rs_864622402

5 SubmittersRCV000813844 RCV001175787 RCV004001755 RCV004800600

NM_003384.3(VRK1):c.683C>T (p.Thr228Met)

SNV
Germline

Chr14:96855330

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Pontocerebellar hypoplasia type 1A
not specified
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7339046

rs_146113610

6 SubmittersRCV001374508 RCV001830759 RCV003226397 RCV004028265 RCV004721623

NM_007294.4(BRCA1):c.5407G>T (p.Gly1803Cys)

SNV
Germline

Chr17:43047703

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10590655

rs_876659510

6 SubmittersRCV000807420 RCV001077366 RCV001178400

NM_007294.4(BRCA1):c.5360G>A (p.Cys1787Tyr)

SNV
Germline

Chr17:43049167

Likely pathogenic

Hereditary breast ovarian cancer syndrome
Malignant tumor of breast
Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA10590746

rs_1597801649

8 SubmittersRCV000820100 RCV001004839 RCV001073117 RCV003442114 RCV004029025

NM_007294.4(BRCA1):c.5285G>C (p.Arg1762Thr)

SNV
Germline

Chr17:43051110

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10590974

rs_398122694

4 SubmittersRCV000803672 RCV001076754 RCV001800889

NM_007294.4(BRCA1):c.5272A>G (p.Arg1758Gly)

SNV
Germline

Chr17:43057057

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA10591010

rs_1597810455

4 SubmittersRCV000812583 RCV001023838 RCV001075961

NM_007294.4(BRCA1):c.5201T>G (p.Phe1734Cys)

SNV
Germline

Chr17:43057128

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10591132

rs_397509237

5 SubmittersRCV000800802 RCV001072514 RCV001524488 RCV004997342

NM_007294.4(BRCA1):c.5195A>G (p.His1732Arg)

SNV
Germline

Chr17:43057134

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10591143

rs_1597811076

3 SubmittersRCV000809365 RCV001076203 RCV002336658

NM_007294.4(BRCA1):c.5067G>A (p.Met1689Ile)

SNV
Germline

Chr17:43067615

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10591387

rs_1597825629

3 SubmittersRCV000798297 RCV001076311 RCV002334499

NM_007294.4(BRCA1):c.5050A>T (p.Thr1684Ser)

SNV
Germline

Chr17:43067632

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA10591417

rs_879255491

3 SubmittersRCV000809447 RCV001077968

NM_007294.4(BRCA1):c.4970T>C (p.Leu1657Pro)

SNV
Germline

Chr17:43070944

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA10591586

rs_1597830263

4 SubmittersRCV000818954 RCV001023347 RCV001072901

NM_007294.4(BRCA1):c.4942A>T (p.Lys1648Ter)

SNV
Germline

Chr17:43070972

Pathogenic

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA10591640

rs_747694453

4 SubmittersRCV000805806 RCV001073183 RCV002345809

NM_007294.4(BRCA1):c.4942A>G (p.Lys1648Glu)

SNV
Germline

Chr17:43070972

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA053462

rs_747694453

6 SubmittersRCV000820087 RCV001023303 RCV001073182

NM_007294.4(BRCA1):c.4549C>T (p.Leu1517Phe)

SNV
Germline

Chr17:43074457

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA052506

rs_137894496

3 SubmittersRCV000818666 RCV002336698

NM_007294.4(BRCA1):c.4505C>T (p.Pro1502Leu)

SNV
Germline

Chr17:43074501

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA10592516

rs_56335406

4 SubmittersRCV000798752 RCV004027967 RCV005870886

NM_007294.4(BRCA1):c.4082T>C (p.Met1361Thr)

SNV
Germline

Chr17:43091449

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA058978

rs_763596987

3 SubmittersRCV000803534 RCV002325552

NM_007294.4(BRCA1):c.4057G>A (p.Glu1353Lys)

SNV
Germline

Chr17:43091474

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10593850

rs_80357178

3 SubmittersRCV000811766 RCV001525026

NM_007294.4(BRCA1):c.3886T>C (p.Phe1296Leu)

SNV
Germline

Chr17:43091645

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10594191

rs_1597860658

2 SubmittersRCV000815649 RCV003158216

NM_007294.4(BRCA1):c.3843G>T (p.Gln1281His)

SNV
Germline

Chr17:43091688

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10594280

rs_1597860926

2 SubmittersRCV000793802 RCV003158142

NM_007294.4(BRCA1):c.3737C>T (p.Thr1246Ile)

SNV
Germline

Chr17:43091794

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10594491

rs_878854949

3 SubmittersRCV000805482 RCV003158182

NM_007294.4(BRCA1):c.3614G>T (p.Gly1205Val)

SNV
Germline

Chr17:43091917

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10594739

rs_1597862536

3 SubmittersRCV000806757 RCV003158189

NM_007294.4(BRCA1):c.3521C>G (p.Ser1174Cys)

SNV
Germline

Chr17:43092010

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10594927

rs_1055368753

4 SubmittersRCV000806901 RCV001020516 RCV002279542

NM_007294.4(BRCA1):c.3510T>G (p.Ile1170Met)

SNV
Germline

Chr17:43092021

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA059416

rs_183119644

4 SubmittersRCV000805699 RCV001176484

NM_007294.4(BRCA1):c.3479A>C (p.Lys1160Thr)

SNV
Germline

Chr17:43092052

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Fanconi anemia, complementation group S

Criteria Provided
Conflicting Classifications

CA10595022

rs_1597863410

3 SubmittersRCV000824010 RCV003158254 RCV005359593

NM_007294.4(BRCA1):c.3472G>A (p.Glu1158Lys)

SNV
Germline

Chr17:43092059

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10595038

rs_397509072

3 SubmittersRCV000805960 RCV002453803

NM_007294.4(BRCA1):c.3385A>G (p.Ile1129Val)

SNV
Germline

Chr17:43092146

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10595208

rs_1597863986

2 SubmittersRCV000804677 RCV003158179

NM_007294.4(BRCA1):c.3338A>G (p.Tyr1113Cys)

SNV
Germline

Chr17:43092193

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10595300

rs_1225577943

2 SubmittersRCV000798832 RCV003158155

NM_007294.4(BRCA1):c.3301A>G (p.Ser1101Gly)

SNV
Germline

Chr17:43092230

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10595387

rs_1597864528

2 SubmittersRCV000812507 RCV003158207

NM_007294.4(BRCA1):c.3281A>G (p.Tyr1094Cys)

SNV
Germline

Chr17:43092250

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10595427

rs_1597864637

3 SubmittersRCV000792169 RCV001805857

NM_007294.4(BRCA1):c.3242A>G (p.Asn1081Ser)

SNV
Germline

Chr17:43092289

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified

Criteria Provided
Conflicting Classifications

CA058037

rs_753440254

4 SubmittersRCV000820078 RCV003158237 RCV006274061

NM_007294.4(BRCA1):c.3199A>T (p.Asn1067Tyr)

SNV
Germline

Chr17:43092332

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10595583

rs_1597865137

5 SubmittersRCV000817971 RCV003158226 RCV004588289

NM_007294.4(BRCA1):c.3139G>A (p.Val1047Ile)

SNV
Germline

Chr17:43092392

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10595703

rs_1597865476

2 SubmittersRCV000816784 RCV003158222

NM_007294.4(BRCA1):c.3124A>C (p.Ser1042Arg)

SNV
Germline

Chr17:43092407

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10595738

rs_1597865563

2 SubmittersRCV000807696 RCV003158193

NM_007294.4(BRCA1):c.3029C>T (p.Pro1010Leu)

SNV
Germline

Chr17:43092502

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA10595933

rs_1597866094

5 SubmittersRCV000822403 RCV001018167 RCV004002841

NM_007294.4(BRCA1):c.2993T>G (p.Leu998Arg)

SNV
Germline

Chr17:43092538

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10596008

rs_1567793330

4 SubmittersRCV000803204 RCV001175762

NM_007294.4(BRCA1):c.2981G>T (p.Cys994Phe)

SNV
Germline

Chr17:43092550

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10596036

rs_1238452758

3 SubmittersRCV000812262 RCV002440758

NM_007294.4(BRCA1):c.2913T>G (p.His971Gln)

SNV
Germline

Chr17:43092618

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10596165

rs_786203804

3 SubmittersRCV000791669 RCV002440622

NM_007294.4(BRCA1):c.2909A>G (p.Lys970Arg)

SNV
Germline

Chr17:43092622

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA058227

rs_756559408

4 SubmittersRCV000801727 RCV001800888 RCV003158167

NM_007294.4(BRCA1):c.2881A>T (p.Asn961Tyr)

SNV
Germline

Chr17:43092650

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
BRCA1-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA10596226

rs_786203786

5 SubmittersRCV000811331 RCV001184409 RCV004803251

NM_007294.4(BRCA1):c.2851A>G (p.Arg951Gly)

SNV
Germline

Chr17:43092680

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10596288

rs_1347533994

3 SubmittersRCV000804254 RCV002440706

NM_007294.4(BRCA1):c.2823T>G (p.Asn941Lys)

SNV
Germline

Chr17:43092708

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10596345

rs_1465630651

3 SubmittersRCV000818928 RCV002434005

NM_007294.4(BRCA1):c.2560G>A (p.Ala854Thr)

SNV
Germline

Chr17:43092971

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10596871

rs_1597869238

3 SubmittersRCV000796518 RCV003158150

NM_007294.4(BRCA1):c.2543A>G (p.Glu848Gly)

SNV
Germline

Chr17:43092988

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10596909

rs_1597869343

2 SubmittersRCV000800497 RCV003158162

NM_007294.4(BRCA1):c.2479G>C (p.Glu827Gln)

SNV
Germline

Chr17:43093052

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10597045

rs_1597869731

3 SubmittersRCV000799604 RCV002458451

NM_007294.4(BRCA1):c.2366G>A (p.Ser789Asn)

SNV
Germline

Chr17:43093165

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10597277

rs_1597870436

2 SubmittersRCV000816921 RCV003158223

NM_007294.4(BRCA1):c.2324C>T (p.Thr775Ile)

SNV
Germline

Chr17:43093207

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10597354

rs_1567796086

2 SubmittersRCV000800306 RCV003158161

NM_007294.4(BRCA1):c.2288C>A (p.Ser763Tyr)

SNV
Germline

Chr17:43093243

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10597423

rs_876660112

3 SubmittersRCV000812664 RCV002442721

NM_007294.4(BRCA1):c.2279C>T (p.Thr760Ile)

SNV
Germline

Chr17:43093252

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10597438

rs_1161074446

3 SubmittersRCV000815937 RCV002442733

NM_007294.4(BRCA1):c.2242A>G (p.Lys748Glu)

SNV
Germline

Chr17:43093289

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA058714

rs_760810832

2 SubmittersRCV000824094 RCV003158255

NM_007294.4(BRCA1):c.2116C>T (p.Pro706Ser)

SNV
Germline

Chr17:43093415

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
BRCA1-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA10597768

rs_1597872071

6 SubmittersRCV000813482 RCV000985380 RCV002422807 RCV004803256

NM_007294.4(BRCA1):c.2029G>A (p.Gly677Arg)

SNV
Germline

Chr17:43093502

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10597953

rs_1597872603

2 SubmittersRCV000795162 RCV003158145

NM_007294.4(BRCA1):c.2023G>A (p.Ala675Thr)

SNV
Germline

Chr17:43093508

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10597965

rs_1597872640

3 SubmittersRCV000812793 RCV003158208

NM_007294.4(BRCA1):c.2017G>C (p.Glu673Gln)

SNV
Germline

Chr17:43093514

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10597976

rs_80357391

2 SubmittersRCV000818443 RCV003158227

NM_007294.4(BRCA1):c.1951A>G (p.Lys651Glu)

SNV
Germline

Chr17:43093580

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA10598120

rs_1555590804

5 SubmittersRCV000795174 RCV002422700 RCV003994120 RCV006633948

NM_007294.4(BRCA1):c.1933T>C (p.Ser645Pro)

SNV
Germline

Chr17:43093598

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10598160

rs_1597873252

2 SubmittersRCV000810379 RCV003158200

NM_007294.4(BRCA1):c.1865C>G (p.Ala622Gly)

SNV
Germline

Chr17:43093666

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified

Criteria Provided
Conflicting Classifications

CA10598286

rs_56039126

4 SubmittersRCV000818598 RCV003158231 RCV005240616

NM_007294.4(BRCA1):c.1796A>G (p.Asn599Ser)

SNV
Germline

Chr17:43093735

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10598428

rs_1174268388

4 SubmittersRCV000808081 RCV001013123

NM_007294.4(BRCA1):c.1774A>C (p.Ser592Arg)

SNV
Germline

Chr17:43093757

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10598477

rs_1597874233

2 SubmittersRCV000810380 RCV003158201

NM_007294.4(BRCA1):c.1760T>C (p.Ile587Thr)

SNV
Germline

Chr17:43093771

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10598508

rs_1597874348

2 SubmittersRCV000802849 RCV003158171

NM_007294.4(BRCA1):c.1759A>G (p.Ile587Val)

SNV
Germline

Chr17:43093772

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified

Criteria Provided
Conflicting Classifications

CA10598511

rs_1597874361

5 SubmittersRCV000819819 RCV001178488 RCV005902082

NM_007294.4(BRCA1):c.1696A>G (p.Lys566Glu)

SNV
Germline

Chr17:43093835

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10598636

rs_1597874665

3 SubmittersRCV000792371 RCV001184608

NM_007294.4(BRCA1):c.1424G>A (p.Ser475Asn)

SNV
Germline

Chr17:43094107

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10599199

rs_1567799668

2 SubmittersRCV000799058 RCV003158156

NM_007294.4(BRCA1):c.1423A>G (p.Ser475Gly)

SNV
Germline

Chr17:43094108

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10599201

rs_1064794047

2 SubmittersRCV000818533 RCV003158229

NM_007294.4(BRCA1):c.1418A>C (p.Asn473Thr)

SNV
Germline

Chr17:43094113

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10599211

rs_80357057

3 SubmittersRCV000809419 RCV001011438

NM_007294.4(BRCA1):c.1345T>C (p.Ser449Pro)

SNV
Germline

Chr17:43094186

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10599359

rs_1597876653

2 SubmittersRCV000800234 RCV003158160

NM_007294.4(BRCA1):c.1343A>C (p.His448Pro)

SNV
Germline

Chr17:43094188

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10599365

rs_1597876676

2 SubmittersRCV000815026 RCV003158215

NM_007294.4(BRCA1):c.1204G>A (p.Glu402Lys)

SNV
Germline

Chr17:43094327

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10599644

rs_273897655

2 SubmittersRCV000805495 RCV003158184

NM_007294.4(BRCA1):c.1193C>T (p.Ser398Leu)

SNV
Germline

Chr17:43094338

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA057085

rs_80357068

3 SubmittersRCV000807543 RCV003158192

NM_007294.4(BRCA1):c.1190A>T (p.Asp397Val)

SNV
Germline

Chr17:43094341

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA057074

rs_747727601

4 SubmittersRCV000810514 RCV003158202 RCV003478511

NM_007294.4(BRCA1):c.1108G>A (p.Val370Ile)

SNV
Germline

Chr17:43094423

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10599842

rs_1567800850

3 SubmittersRCV000798126 RCV003158154

NM_007294.4(BRCA1):c.1025T>A (p.Leu342Gln)

SNV
Germline

Chr17:43094506

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10600009

rs_1555592634

3 SubmittersRCV000809940 RCV003158198

NM_007294.4(BRCA1):c.967G>A (p.Gly323Arg)

SNV
Germline

Chr17:43094564

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10600131

rs_1597878824

3 SubmittersRCV000797128 RCV003158151

NM_007294.4(BRCA1):c.945G>C (p.Arg315Ser)

SNV
Germline

Chr17:43094586

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10600179

rs_1555592789

2 SubmittersRCV000802372 RCV003158169

NM_007294.4(BRCA1):c.929A>C (p.Gln310Pro)

SNV
Germline

Chr17:43094602

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10600211

rs_1597879098

4 SubmittersRCV000811780 RCV001185093

NM_007294.4(BRCA1):c.835C>T (p.His279Tyr)

SNV
Germline

Chr17:43094696

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA10600413

rs_1380919500

3 SubmittersRCV000815959 RCV003158220 RCV003493742

NM_007294.4(BRCA1):c.821G>A (p.Cys274Tyr)

SNV
Germline

Chr17:43094710

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10600441

rs_1597879808

3 SubmittersRCV000822340 RCV002408991

NM_007294.4(BRCA1):c.809A>G (p.His270Arg)

SNV
Germline

Chr17:43094722

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10600462

rs_1597879864

4 SubmittersRCV000811099 RCV001184407

NM_007294.4(BRCA1):c.765G>C (p.Glu255Asp)

SNV
Germline

Chr17:43094766

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10600554

rs_62625299

2 SubmittersRCV000820290 RCV003158239

NM_007294.4(BRCA1):c.733G>C (p.Asp245His)

SNV
Germline

Chr17:43094798

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10600615

rs_147519994

3 SubmittersRCV000812819 RCV003158209 RCV005255627

NM_007294.4(BRCA1):c.707C>T (p.Thr236Ile)

SNV
Germline

Chr17:43094824

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10600671

rs_80356990

4 SubmittersRCV000823389 RCV001026013 RCV004588297

NM_007294.4(BRCA1):c.235T>G (p.Phe79Val)

SNV
Germline

Chr17:43104934

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
not specified

Criteria Provided
Conflicting Classifications

CA10601689

rs_1597898362

3 SubmittersRCV000819624 RCV001076039 RCV003317382

NM_007294.4(BRCA1):c.139T>C (p.Cys47Arg)

SNV
Germline

Chr17:43106529

Pathogenic/Likely pathogenic

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA10601875

rs_80357370

5 SubmittersRCV000807432 RCV001077071 RCV006255853

NM_007294.4(BRCA1):c.132C>G (p.Cys44Trp)

SNV
Germline

Chr17:43115728

Likely pathogenic

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Single Submitter

CA10601895

rs_876658362

2 SubmittersRCV000802596 RCV001077014

NM_007294.4(BRCA1):c.72T>G (p.Cys24Trp)

SNV
Germline

Chr17:43124025

Pathogenic

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Single Submitter

CA10602012

rs_1597923232

2 SubmittersRCV000807975 RCV001077757

NM_007294.4(BRCA1):c.70T>G (p.Cys24Gly)

SNV
Germline

Chr17:43124027

Pathogenic/Likely pathogenic

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA10602016

rs_80357410

4 SubmittersRCV000804266 RCV001077752 RCV002360967 RCV004997350

NM_007294.4(BRCA1):c.70T>A (p.Cys24Ser)

SNV
Germline

Chr17:43124027

Pathogenic/Likely pathogenic

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA10602017

rs_80357410

4 SubmittersRCV000791635 RCV001026042 RCV001077716 RCV001284301

NM_007294.4(BRCA1):c.37A>G (p.Asn13Asp)

SNV
Germline

Chr17:43124060

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA10602087

rs_1597923586

3 SubmittersRCV000824522 RCV001077672

NM_007294.4(BRCA1):c.34C>G (p.Gln12Glu)

SNV
Germline

Chr17:43124063

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10602094

rs_80357134

3 SubmittersRCV000801423 RCV001076453 RCV005782032

NM_007294.4(BRCA1):c.16C>T (p.Leu6Phe)

SNV
Germline

Chr17:43124081

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10602127

rs_1315262605

5 SubmittersRCV000815437 RCV001077646 RCV002397692

NM_000059.4(BRCA2):c.7976+1G>T

SNV
Germline

Chr13:32362694

Pathogenic/Likely pathogenic

Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA387747374

rs_81002873

4 SubmittersRCV000823129 RCV000995059 RCV002415943

NM_000059.4(BRCA2):c.7007+2T>G

SNV
Germline

Chr13:32346898

Pathogenic/Likely pathogenic

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA387793206

rs_886040937

3 SubmittersRCV000797902 RCV001525988

NM_000059.4(BRCA2):c.476-10T>A

SNV
Germline

Chr13:32326232

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
BRCA2-related cancer predisposition
Familial prostate cancer

Criteria Provided
Conflicting Classifications

CA915946938

rs_1593886998

4 SubmittersRCV000808777 RCV001177507 RCV004803246 RCV005359564

NM_024675.4(PALB2):c.211+1G>T

SNV
Germline

Chr16:23637849

Pathogenic/Likely pathogenic

Familial cancer of breast
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA395139004

rs_1555462026

8 SubmittersRCV000806217 RCV001291546 RCV004944181 RCV005092410

NM_000059.4(BRCA2):c.-40+2T>C

SNV
Germline

Chr13:32315669

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group D1

Criteria Provided
Conflicting Classifications

CA915946915

rs_1593879845

4 SubmittersRCV000797145 RCV002352335 RCV003330094

NM_007294.4(BRCA1):c.213-2A>T

SNV
Germline

Chr17:43104958

Pathogenic

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Single Submitter

CA10601742

rs_397508940

2 SubmittersRCV000820428 RCV001076023

NM_000059.4(BRCA2):c.6841+1G>A

SNV
Germline

Chr13:32341197

Likely pathogenic

Hereditary breast ovarian cancer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA6940991

rs_773863936

2 SubmittersRCV000815333

NM_000059.4(BRCA2):c.7008-1G>C

SNV
Germline

Chr13:32354860

Pathogenic

Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA387794065

rs_786204280

2 SubmittersRCV000795988 RCV006434444

NM_007294.4(BRCA1):c.5074+2T>A

SNV
Germline

Chr17:43067606

Pathogenic

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA10591375

rs_80358089

4 SubmittersRCV000798936 RCV001072198 RCV001784419 RCV005401612

NM_007294.4(BRCA1):c.212+4T>G

SNV
Germline

Chr17:43106452

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA915950062

rs_398122652

3 SubmittersRCV000817737 RCV001072653 RCV001014516

NM_000059.4(BRCA2):c.9784C>T (p.Gln3262Ter)

SNV
Germline/somatic

Chr13:32398297

Likely pathogenic

Hereditary breast ovarian cancer syndrome
Malignant tumor of urinary bladder

Criteria Provided
Single Submitter

CA387765945

rs_1566261010

2 SubmittersRCV000826157 RCV003332267

NM_000059.4(BRCA2):c.9501+5G>A

SNV
Germline

Chr13:32394938

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA247505361

rs_767936906

2 SubmittersRCV000833267 RCV006612516

NM_000059.4(BRCA2):c.6841+2T>G

SNV
Germline

Chr13:32341198

Likely pathogenic

Breast carcinoma
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA387791538

rs_1593909960

3 SubmittersRCV000850288 RCV001378758 RCV003169081

NM_000059.4(BRCA2):c.2632G>C (p.Asp878His)

SNV
Germline

Chr13:32336987

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387773231

rs_1593897379

5 SubmittersRCV001005029 RCV001805906 RCV002064416

NM_007294.4(BRCA1):c.4224G>C (p.Gln1408His)

SNV
Unknown

Chr17:43082537

Likely pathogenic

Hereditary breast ovarian cancer syndrome

Criteria Provided
Single Submitter

CA10593275

rs_1597848407

1 SubmittersRCV000855546

NM_014967.5(FAN1):c.149T>G (p.Met50Arg)

SNV
Germline

Chr15:30904812

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary breast ovarian cancer syndrome
FAN1-related disorder
Hereditary cancer

Criteria Provided
Conflicting Classifications

CA7449990

rs_148404807

6 SubmittersRCV000879461 RCV001374488 RCV003908387 RCV003492183

NM_002907.4(RECQL):c.2T>C (p.Met1Thr)

SNV
Germline

Chr12:21499569

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary breast ovarian cancer syndrome
RECQL-related disorder
not specified
RECON progeroid syndrome

Criteria Provided
Conflicting Classifications

CA6479241

rs_146924988

7 SubmittersRCV000905173 RCV001030660 RCV003923055 RCV004028556 RCV005392530

NM_000051.4(ATM):c.8787-6C>T

SNV
Germline

Chr11:108354805

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary breast ovarian cancer syndrome
Familial cancer of breast
Hereditary cancer-predisposing syndrome
not specified

Criteria Provided
Conflicting Classifications

CA915948336

rs_1591313765

6 SubmittersRCV000897587 RCV002225765 RCV004588321 RCV002255572 RCV006274081

NM_000059.4(BRCA2):c.5603A>G (p.Asp1868Gly)

SNV
Germline

Chr13:32339958

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA387786066

rs_1170821828

4 SubmittersRCV001405999 RCV003158257 RCV004997499

NM_000059.4(BRCA2):c.9257-11T>G

SNV
Germline

Chr13:32394678

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA915948624

rs_1593199545

3 SubmittersRCV001492632 RCV003232161 RCV005236432

NM_007294.4(BRCA1):c.4097-11T>G

SNV
Germline

Chr17:43091043

Conflicting classifications of pathogenicity

not specified
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA915950081

rs_80358072

3 SubmittersRCV001193195 RCV001482383 RCV002259054

NM_000059.4(BRCA2):c.1662T>C (p.Cys554=)

SNV
Germline

Chr13:32333140

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA483436551

rs_80358451

3 SubmittersRCV000942458 RCV001401547 RCV002400080

NM_000059.4(BRCA2):c.4035T>C (p.Asp1345=)

SNV
Germline

Chr13:32338390

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Inherited breast cancer and ovarian cancer

Criteria Provided
Conflicting Classifications

CA483438115

rs_1304787573

4 SubmittersRCV000943980 RCV004004329 RCV005791970 RCV005253659

NM_000059.4(BRCA2):c.5364C>A (p.Ser1788=)

SNV
Germline

Chr13:32339719

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA483438642

rs_1023705162

2 SubmittersRCV000930968 RCV006261172

NM_000059.4(BRCA2):c.9753G>A (p.Lys3251=)

SNV
Germline

Chr13:32398266

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA483439958

rs_730881576

3 SubmittersRCV001422060 RCV004003275 RCV003169390

NM_007294.4(BRCA1):c.2619A>T (p.Ser873=)

SNV
Germline

Chr17:43092912

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA500232367

rs_1597868763

4 SubmittersRCV000928719 RCV005306208 RCV006261171

NM_007294.4(BRCA1):c.1996C>T (p.Leu666=)

SNV
Germline

Chr17:43093535

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA500233151

rs_1555590709

3 SubmittersRCV001446641 RCV003307745 RCV004997520

NM_002878.4(RAD51D):c.573G>A (p.Gln191=)

SNV
Germline

Chr17:35106389

Conflicting classifications of pathogenicity

Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 4
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA499731558

rs_1597861626

5 SubmittersRCV000977922 RCV001079882 RCV003372926 RCV005359709

NM_007294.4(BRCA1):c.5382G>A (p.Glu1794=)

SNV
Germline

Chr17:43049145

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA500143292

rs_397509275

6 SubmittersRCV000978428 RCV001024010 RCV001088978 RCV001073148

NM_000059.4(BRCA2):c.317-17T>A

SNV
Germline

Chr13:32325059

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified

Criteria Provided
Conflicting Classifications

CA913188535

rs_1593885822

4 SubmittersRCV000975297 RCV001189537 RCV001280618

NM_000059.4(BRCA2):c.5219T>G (p.Leu1740Ter)

SNV
Germline

Chr13:32339574

Pathogenic/Likely pathogenic

Familial cancer of breast
Hereditary breast ovarian cancer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA387784634

rs_1593904834

2 SubmittersRCV000984803 RCV006464891

NM_000059.4(BRCA2):c.939T>C (p.Ser313=)

SNV
Germline

Chr13:32332417

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA483436346

rs_1593891536

6 SubmittersRCV000985627 RCV001184395 RCV001430626 RCV001192452 RCV004004411

NM_000059.4(BRCA2):c.1071A>G (p.Glu357=)

SNV
Germline

Chr13:32332549

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA483436625

rs_1593891870

2 SubmittersRCV000985460 RCV003645121

NM_000059.4(BRCA2):c.2474A>G (p.Asn825Ser)

SNV
Germline

Chr13:32336829

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary breast ovarian cancer syndrome
not specified
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387772368

rs_1593897016

5 SubmittersRCV000985481 RCV001365273 RCV003317405 RCV003158264

NM_000059.4(BRCA2):c.2477A>C (p.Glu826Ala)

SNV
Germline

Chr13:32336832

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387772377

rs_1214763097

4 SubmittersRCV000985482 RCV001858621 RCV002454231

NM_000059.4(BRCA2):c.2569C>G (p.Leu857Val)

SNV
Germline

Chr13:32336924

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387772566

rs_767596766

5 SubmittersRCV000985483 RCV001054996 RCV003158265

NM_000059.4(BRCA2):c.2635T>C (p.Ser879Pro)

SNV
Germline

Chr13:32336990

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA6940618

rs_753266636

3 SubmittersRCV000985485 RCV002549648 RCV003158266

NM_000059.4(BRCA2):c.3166C>G (p.Gln1056Glu)

SNV
Germline

Chr13:32337521

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387775796

rs_79728106

4 SubmittersRCV000985494 RCV002320198 RCV001858622

NM_000059.4(BRCA2):c.3650G>A (p.Arg1217Lys)

SNV
Germline

Chr13:32338005

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387777952

rs_1306577496

4 SubmittersRCV000985509 RCV001020805 RCV001359613

NM_000059.4(BRCA2):c.4225T>G (p.Leu1409Val)

SNV
Germline

Chr13:32338580

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387780328

rs_1593901749

3 SubmittersRCV000985518 RCV002549649 RCV003158269

NM_000059.4(BRCA2):c.5207A>G (p.Gln1736Arg)

SNV
Germline

Chr13:32339562

Conflicting classifications of pathogenicity

Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387784607

rs_1183489363

7 SubmittersRCV000985539 RCV000989038 RCV001041172 RCV001180721

NM_000059.4(BRCA2):c.5491A>G (p.Ile1831Val)

SNV
Germline

Chr13:32339846

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387785762

rs_1593905631

4 SubmittersRCV000985547 RCV001869329 RCV003158270

NM_000059.4(BRCA2):c.5585T>G (p.Val1862Gly)

SNV
Germline

Chr13:32339940

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387786029

rs_1593905868

4 SubmittersRCV001024299 RCV000985548 RCV001858624

NM_000059.4(BRCA2):c.5807T>C (p.Met1936Thr)

SNV
Germline

Chr13:32340162

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA387787238

rs_1376128381

7 SubmittersRCV000985550 RCV001024558 RCV001243303 RCV004004409

NM_000059.4(BRCA2):c.6202A>G (p.Ile2068Val)

SNV
Germline

Chr13:32340557

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA6940933

rs_755523944

3 SubmittersRCV000985561 RCV003158271 RCV002550591

NM_000059.4(BRCA2):c.8231G>A (p.Arg2744Lys)

SNV
Germline

Chr13:32363433

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA387749858

rs_1555287056

5 SubmittersRCV000985599 RCV001326248 RCV002409314 RCV004004410

NM_000059.4(BRCA2):c.9754T>A (p.Ser3252Thr)

SNV
Germline

Chr13:32398267

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Familial prostate cancer

Criteria Provided
Conflicting Classifications

CA387765710

rs_1060502467

4 SubmittersRCV000985631 RCV002382219 RCV002550592 RCV005359718

NM_007294.4(BRCA1):c.5257A>G (p.Arg1753Gly)

SNV
Germline

Chr17:43057072

Likely pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
BRCA1-related cancer predisposition

Reviewed By Expert Panel

CA10591040

rs_1597810544

5 SubmittersRCV000985434 RCV001023805 RCV001072579 RCV004764797 RCV005415458

NM_007294.4(BRCA1):c.5133A>G (p.Lys1711=)

SNV
Germline

Chr17:43063893

Conflicting classifications of pathogenicity

Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA500146157

rs_1597820025

4 SubmittersRCV000985430 RCV001072315 RCV002337038 RCV002067566

NM_007294.4(BRCA1):c.5128G>A (p.Gly1710Arg)

SNV
Germline

Chr17:43063898

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
not specified

Criteria Provided
Conflicting Classifications

CA053953

rs_397509229

9 SubmittersRCV000985429 RCV001023586 RCV001047894 RCV001077637 RCV001805953

NM_007294.4(BRCA1):c.5091T>G (p.Cys1697Trp)

SNV
Germline

Chr17:43063935

Conflicting classifications of pathogenicity

Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10591343

rs_1597820426

4 SubmittersRCV000985428 RCV001077567 RCV003530120

NM_007294.4(BRCA1):c.4393A>G (p.Ile1465Val)

SNV
Germline

Chr17:43076579

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified
BRCA1-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA10592751

rs_1567779778

7 SubmittersRCV000985415 RCV001060438 RCV001182302 RCV001819691 RCV004803338

NM_007294.4(BRCA1):c.4075C>A (p.Gln1359Lys)

SNV
Germline

Chr17:43091456

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary breast ovarian cancer syndrome
not specified
Hereditary cancer-predisposing syndrome
BRCA1-related cancer predisposition
Pancreatic cancer, susceptibility to, 4
Fanconi anemia, complementation group S
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA10593810

rs_80357456

8 SubmittersRCV000985412 RCV001042582 RCV001193115 RCV003158261 RCV004803337 RCV005021289

NM_007294.4(BRCA1):c.3244G>T (p.Ala1082Ser)

SNV
Germline

Chr17:43092287

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10595494

rs_779459487

3 SubmittersRCV000985397 RCV001052052 RCV003158259

NM_007294.4(BRCA1):c.2936G>T (p.Arg979Leu)

SNV
Germline

Chr17:43092595

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10596124

rs_80356985

4 SubmittersRCV000985395 RCV003158258 RCV003645119

NM_007294.4(BRCA1):c.2812C>T (p.Pro938Ser)

SNV
Germline

Chr17:43092719

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10596367

rs_1597867531

5 SubmittersRCV000985392 RCV001016661 RCV001122179 RCV001297776

NM_007294.4(BRCA1):c.1766G>T (p.Ser589Ile)

SNV
Germline

Chr17:43093765

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA10598492

rs_1567798335

7 SubmittersRCV000985375 RCV001013036 RCV001175507 RCV001869328 RCV004004406

NM_007294.4(BRCA1):c.976G>C (p.Glu326Gln)

SNV
Germline

Chr17:43094555

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary breast ovarian cancer syndrome
not specified
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA056939

rs_773433679

9 SubmittersRCV000985453 RCV001052638 RCV001824909 RCV002382218 RCV003229606

NM_007294.4(BRCA1):c.894T>C (p.Asn298=)

SNV
Germline

Chr17:43094637

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA500233305

rs_1597879373

2 SubmittersRCV000985451 RCV001440103

NM_007294.4(BRCA1):c.817C>T (p.Pro273Ser)

SNV
Germline

Chr17:43094714

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA10600447

rs_1597879824

7 SubmittersRCV000985450 RCV001858620 RCV002427437 RCV004004408

NM_007294.4(BRCA1):c.207C>T (p.Thr69=)

SNV
Germline

Chr17:43106461

Conflicting classifications of pathogenicity

Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA500128083

rs_1567812175

4 SubmittersRCV000985378 RCV001077760 RCV002549647 RCV004030099

NM_007294.4(BRCA1):c.170G>C (p.Gly57Ala)

SNV
Germline

Chr17:43106498

Conflicting classifications of pathogenicity

Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10601815

rs_1597900455

4 SubmittersRCV000985372 RCV001076703 RCV001215723 RCV002400157

NM_007294.4(BRCA1):c.4484+3A>C

SNV
Germline

Chr17:43076485

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA915950043

rs_1597838973

2 SubmittersRCV000985418 RCV003645120

NM_000136.3(FANCC):c.1065C>A (p.Asp355Glu)

SNV
Germline

Chr9:95117322

Conflicting classifications of pathogenicity

Fanconi anemia complementation group A
Fanconi anemia
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA374108102

rs_1588070592

5 SubmittersRCV000988208 RCV001064625 RCV001030699 RCV003160115

NM_000059.4(BRCA2):c.4129A>G (p.Asn1377Asp)

SNV
Germline

Chr13:32338484

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387779364

rs_1593901487

4 SubmittersRCV000989025 RCV001208386 RCV003158274

NM_000059.4(BRCA2):c.4973A>G (p.Gln1658Arg)

SNV
Germline

Chr13:32339328

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387783837

rs_1593903991

3 SubmittersRCV000989033 RCV001858699 RCV003158276

NM_000059.4(BRCA2):c.5206C>G (p.Gln1736Glu)

SNV
Germline

Chr13:32339561

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387784605

rs_886037802

4 SubmittersRCV000989037 RCV001237147 RCV002337047

NM_000059.4(BRCA2):c.6272G>A (p.Ser2091Asn)

SNV
Germline

Chr13:32340627

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387788973

rs_1060502389

3 SubmittersRCV000989049 RCV001858700 RCV003158279

NM_000059.4(BRCA2):c.7977-7C>T

SNV
Germline

Chr13:32363172

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA915946885

rs_397507948

2 SubmittersRCV000989068 RCV002067582

NM_000059.4(BRCA2):c.9265C>T (p.Pro3089Ser)

SNV
Germline

Chr13:32394697

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387760739

rs_1593199583

3 SubmittersRCV000989084 RCV001221484 RCV005791975

NM_002878.4(RAD51D):c.263+1551G>T

SNV
Germline

Chr17:35116950

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 4
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA8499582

rs_780006577

3 SubmittersRCV000989837 RCV001030593

NM_007294.4(BRCA1):c.5580C>G (p.His1860Gln)

SNV
Germline

Chr17:43045690

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
not specified
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10590166

rs_1597796507

5 SubmittersRCV000989863 RCV001002661 RCV001224841 RCV002280146

NM_007294.4(BRCA1):c.5277+7C>T

SNV
Germline

Chr17:43057045

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA915950050

rs_1597810359

3 SubmittersRCV000989868 RCV001397856

NM_007294.4(BRCA1):c.1350A>T (p.Lys450Asn)

SNV
Germline

Chr17:43094181

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10599348

rs_1597876640

4 SubmittersRCV000989904 RCV003158282 RCV003530121

NM_000059.4(BRCA2):c.622G>C (p.Val208Leu)

SNV
Germline

Chr13:32326604

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary breast ovarian cancer syndrome
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387758372

rs_1593887544

5 SubmittersRCV000995054 RCV001295693 RCV003607364 RCV004950116

NM_000059.4(BRCA2):c.8416T>C (p.Ser2806Pro)

SNV
Germline

Chr13:32370486

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387752518

rs_1280487930

3 SubmittersRCV000995060 RCV002445148 RCV003106088

NM_000059.4(BRCA2):c.2674T>C (p.Phe892Leu)

SNV
Germline

Chr13:32337029

Conflicting classifications of pathogenicity

not specified
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387773394

rs_1593897508

4 SubmittersRCV001002149 RCV001860510 RCV003158285

NM_007294.4(BRCA1):c.3358G>C (p.Val1120Leu)

SNV
Germline

Chr17:43092173

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA057944

rs_748894760

3 SubmittersRCV001002496 RCV003158286 RCV003530123

NM_000059.4(BRCA2):c.942A>G (p.Lys314=)

SNV
Germline

Chr13:32332420

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Fanconi anemia complementation group D1
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA483436358

rs_1384322636

5 SubmittersRCV001019336 RCV001109311 RCV001114950 RCV002549502

NM_000059.4(BRCA2):c.954A>C (p.Lys318Asn)

SNV
Germline

Chr13:32332432

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387760861

rs_1593891571

3 SubmittersRCV001019472 RCV001317883

NM_000059.4(BRCA2):c.1000C>A (p.His334Asn)

SNV
Germline

Chr13:32332478

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387761044

rs_1593891725

3 SubmittersRCV001009656 RCV001860609

NM_000059.4(BRCA2):c.1114A>G (p.Asn372Asp)

SNV
Germline

Chr13:32332592

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387761621

rs_144848

3 SubmittersRCV001017368 RCV001319297

NM_000059.4(BRCA2):c.1133G>A (p.Ser378Asn)

SNV
Germline

Chr13:32332611

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
Breast-ovarian cancer, familial, susceptibility to, 2
8 conditions

Criteria Provided
Conflicting Classifications

CA387761745

rs_1593892009

6 SubmittersRCV001009962 RCV001207859 RCV003321771 RCV004004480 RCV005012441

NM_000059.4(BRCA2):c.1185G>T (p.Trp395Cys)

SNV
Germline

Chr13:32332663

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387762001

rs_886039315

4 SubmittersRCV001010213 RCV001341557

NM_000059.4(BRCA2):c.1220A>G (p.Gln407Arg)

SNV
Germline

Chr13:32332698

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Fanconi anemia complementation group D1

Criteria Provided
Conflicting Classifications

CA387762123

rs_1593892264

6 SubmittersRCV001010386 RCV001860635 RCV002466600 RCV004789317

NM_000059.4(BRCA2):c.1224G>C (p.Met408Ile)

SNV
Germline

Chr13:32332702

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387762141

rs_1593892275

3 SubmittersRCV001010419 RCV006612537

NM_000059.4(BRCA2):c.1234C>A (p.Pro412Thr)

SNV
Germline

Chr13:32332712

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA387762200

rs_1555281787

4 SubmittersRCV001010471 RCV003645122 RCV004004486

NM_000059.4(BRCA2):c.1298A>G (p.Asn433Ser)

SNV
Germline

Chr13:32332776

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387762520

rs_1593892451

3 SubmittersRCV001010821 RCV001373829

NM_000059.4(BRCA2):c.1328A>G (p.Glu443Gly)

SNV
Germline

Chr13:32332806

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387762668

rs_1593892542

3 SubmittersRCV001011048 RCV002551737

NM_000059.4(BRCA2):c.1405G>A (p.Asp469Asn)

SNV
Germline

Chr13:32332883

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA387764166

rs_398122727

4 SubmittersRCV001011409 RCV001071150 RCV003327476

NM_000059.4(BRCA2):c.1435G>A (p.Asp479Asn)

SNV
Germline

Chr13:32332913

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387764281

rs_1593892861

3 SubmittersRCV001011565 RCV001210067

NM_000059.4(BRCA2):c.1454A>G (p.Lys485Arg)

SNV
Germline

Chr13:32332932

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387764345

rs_1593892915

5 SubmittersRCV001011663 RCV003117690 RCV003769446

NM_000059.4(BRCA2):c.1505A>G (p.Lys502Arg)

SNV
Germline

Chr13:32332983

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA247497645

rs_990094915

3 SubmittersRCV001011941 RCV001037998

NM_000059.4(BRCA2):c.1522A>G (p.Ile508Val)

SNV
Germline

Chr13:32333000

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA387764561

rs_1593893116

4 SubmittersRCV001011999 RCV002550772 RCV006450842

NM_000059.4(BRCA2):c.1524A>G (p.Ile508Met)

SNV
Germline

Chr13:32333002

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387764569

rs_1593893119

3 SubmittersRCV001012007 RCV001233557

NM_000059.4(BRCA2):c.1579C>T (p.Pro527Ser)

SNV
Germline

Chr13:32333057

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6940528

rs_758025325

5 SubmittersRCV001012273 RCV001345073 RCV006261211

NM_000059.4(BRCA2):c.1604C>T (p.Ala535Val)

SNV
Germline

Chr13:32333082

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387764849

rs_1593893344

3 SubmittersRCV001012345 RCV002550776

NM_000059.4(BRCA2):c.1764T>G (p.Asn588Lys)

SNV
Germline

Chr13:32333242

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387765599

rs_1235065739

3 SubmittersRCV001013026 RCV001860732

NM_000059.4(BRCA2):c.1775A>T (p.Tyr592Phe)

SNV
Germline

Chr13:32333253

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387765665

rs_772156559

3 SubmittersRCV001013100 RCV001067410

NM_000059.4(BRCA2):c.1783C>A (p.His595Asn)

SNV
Germline

Chr13:32333261

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA387765705

rs_587781906

4 SubmittersRCV001013139 RCV001873242 RCV004004523

NM_000059.4(BRCA2):c.1844A>C (p.Asn615Thr)

SNV
Germline

Chr13:32333322

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387766311

rs_1593894051

3 SubmittersRCV001013373 RCV005093096

NM_000059.4(BRCA2):c.1847G>A (p.Cys616Tyr)

SNV
Germline

Chr13:32333325

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387766347

rs_1230674723

3 SubmittersRCV001013399 RCV001056360

NM_000059.4(BRCA2):c.1847G>C (p.Cys616Ser)

SNV
Germline

Chr13:32333325

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387766350

rs_1230674723

4 SubmittersRCV001013400 RCV001860738

NM_000059.4(BRCA2):c.1889C>A (p.Thr630Lys)

SNV
Germline

Chr13:32333367

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387766740

rs_80358479

4 SubmittersRCV001013567 RCV003320224 RCV005093098

NM_000059.4(BRCA2):c.1905T>A (p.Asp635Glu)

SNV
Germline

Chr13:32333383

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387767363

rs_1555282154

4 SubmittersRCV001013576 RCV001326443

NM_000059.4(BRCA2):c.1939T>A (p.Cys647Ser)

SNV
Germline

Chr13:32336294

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387768350

rs_1555282367

3 SubmittersRCV001013753 RCV003645127

NM_000059.4(BRCA2):c.1952A>G (p.Asp651Gly)

SNV
Germline

Chr13:32336307

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA6940567

rs_747387987

4 SubmittersRCV001013819 RCV001873252

NM_000059.4(BRCA2):c.1964C>A (p.Pro655Gln)

SNV
Germline

Chr13:32336319

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA387768508

rs_28897712

4 SubmittersRCV001013884 RCV001230113 RCV006261216

NM_000059.4(BRCA2):c.1991G>A (p.Gly664Glu)

SNV
Germline

Chr13:32336346

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA387768652

rs_1555282391

5 SubmittersRCV001013974 RCV001320186 RCV001766833 RCV003483753

NM_000059.4(BRCA2):c.2021A>G (p.Glu674Gly)

SNV
Germline

Chr13:32336376

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA247500461

rs_56311811

3 SubmittersRCV001014119 RCV001217478

NM_000059.4(BRCA2):c.2060A>G (p.Asp687Gly)

SNV
Germline

Chr13:32336415

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387769015

rs_1593896033

3 SubmittersRCV001014275 RCV003530125

NM_000059.4(BRCA2):c.2087A>G (p.Glu696Gly)

SNV
Germline

Chr13:32336442

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387769161

rs_1593896068

3 SubmittersRCV001014383 RCV003645128

NM_000059.4(BRCA2):c.2123C>A (p.Ser708Tyr)

SNV
Germline

Chr13:32336478

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387770042

rs_1593896146

4 SubmittersRCV001014526 RCV002550795

NM_000059.4(BRCA2):c.2150G>A (p.Cys717Tyr)

SNV
Germline

Chr13:32336505

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387770184

rs_1184992634

4 SubmittersRCV001014603 RCV005056758

NM_000059.4(BRCA2):c.2159A>T (p.Asp720Val)

SNV
Germline

Chr13:32336514

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387770241

rs_1593896239

3 SubmittersRCV001014623 RCV001321973

NM_000059.4(BRCA2):c.2273G>A (p.Ser758Asn)

SNV
Germline

Chr13:32336628

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA387771075

rs_1593896511

5 SubmittersRCV001014863 RCV001233111 RCV003483754

NM_000059.4(BRCA2):c.2306T>G (p.Leu769Arg)

SNV
Germline

Chr13:32336661

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387771356

rs_1555282603

3 SubmittersRCV001015147 RCV002304224

NM_000059.4(BRCA2):c.2308A>G (p.Ile770Val)

SNV
Germline

Chr13:32336663

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified

Criteria Provided
Conflicting Classifications

CA387771361

rs_1593896607

5 SubmittersRCV001015152 RCV001217998 RCV001201235

NM_000059.4(BRCA2):c.2458G>C (p.Asp820His)

SNV
Germline

Chr13:32336813

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387772314

rs_1593896974

3 SubmittersRCV001015603 RCV001860799

NM_000059.4(BRCA2):c.2477A>G (p.Glu826Gly)

SNV
Germline

Chr13:32336832

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387772376

rs_1214763097

4 SubmittersRCV001015654 RCV003645132

NM_000059.4(BRCA2):c.2594A>G (p.Glu865Gly)

SNV
Germline

Chr13:32336949

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA387772616

rs_1593897302

4 SubmittersRCV001015891 RCV001234291 RCV004004553

NM_000059.4(BRCA2):c.2742G>C (p.Leu914Phe)

SNV
Germline

Chr13:32337097

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA6940627

rs_759767392

6 SubmittersRCV001016466 RCV001284080 RCV001860830

NM_000059.4(BRCA2):c.2880G>C (p.Lys960Asn)

SNV
Germline

Chr13:32337235

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA247503235

rs_55891436

3 SubmittersRCV001016850 RCV001308894

NM_000059.4(BRCA2):c.2923A>G (p.Ile975Val)

SNV
Germline

Chr13:32337278

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387774213

rs_757213764

5 SubmittersRCV001017509 RCV002479215 RCV005208691

NM_000059.4(BRCA2):c.2975A>T (p.Lys992Ile)

SNV
Germline

Chr13:32337330

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387774548

rs_1370517493

3 SubmittersRCV001017734 RCV001860873

NM_000059.4(BRCA2):c.3022A>G (p.Ser1008Gly)

SNV
Germline

Chr13:32337377

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387774854

rs_1386536852

3 SubmittersRCV001018122 RCV001860894

NM_000059.4(BRCA2):c.3040A>G (p.Asn1014Asp)

SNV
Germline

Chr13:32337395

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA387774989

rs_1390034820

5 SubmittersRCV001018252 RCV002298831 RCV004803358

NM_000059.4(BRCA2):c.3042T>G (p.Asn1014Lys)

SNV
Germline

Chr13:32337397

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387775001

rs_1593898407

4 SubmittersRCV001018287 RCV001860901

NM_000059.4(BRCA2):c.3211C>G (p.His1071Asp)

SNV
Germline

Chr13:32337566

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387775881

rs_80358564

4 SubmittersRCV001019269 RCV005418954 RCV005093182

NM_000059.4(BRCA2):c.3235T>G (p.Ser1079Ala)

SNV
Germline

Chr13:32337590

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387775932

rs_1593898984

3 SubmittersRCV001019345 RCV002551817

NM_000059.4(BRCA2):c.3337G>A (p.Glu1113Lys)

SNV
Germline

Chr13:32337692

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA387776295

rs_1482364471

4 SubmittersRCV001020025 RCV005056776 RCV005359776

NM_000059.4(BRCA2):c.3350T>C (p.Ile1117Thr)

SNV
Germline

Chr13:32337705

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA6940691

rs_558973276

3 SubmittersRCV001020061 RCV001216809

NM_000059.4(BRCA2):c.3362C>T (p.Ser1121Leu)

SNV
Germline

Chr13:32337717

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387776385

rs_80358579

3 SubmittersRCV001020092 RCV006612556

NM_000059.4(BRCA2):c.3375T>A (p.Phe1125Leu)

SNV
Germline

Chr13:32337730

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387776412

rs_1593899361

3 SubmittersRCV001020130 RCV001860973

NM_000059.4(BRCA2):c.3500T>C (p.Ile1167Thr)

SNV
Germline

Chr13:32337855

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387776940

rs_1593899750

3 SubmittersRCV001020469 RCV001042565

NM_000059.4(BRCA2):c.3501A>G (p.Ile1167Met)

SNV
Germline

Chr13:32337856

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387776945

rs_1593899752

3 SubmittersRCV001020470 RCV003645141

NM_000059.4(BRCA2):c.3680T>C (p.Leu1227Pro)

SNV
Germline

Chr13:32338035

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387778010

rs_1593900195

3 SubmittersRCV001020867 RCV006612558

NM_000059.4(BRCA2):c.3719T>C (p.Leu1240Pro)

SNV
Germline

Chr13:32338074

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387778083

rs_1593900306

5 SubmittersRCV001020966 RCV001800932 RCV003530130

NM_000059.4(BRCA2):c.3764T>G (p.Val1255Gly)

SNV
Germline

Chr13:32338119

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387778229

rs_1593900450

3 SubmittersRCV001021084 RCV001213355

NM_000059.4(BRCA2):c.3785C>A (p.Ser1262Ter)

SNV
Germline

Chr13:32338140

Pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA387778343

rs_80358620

4 SubmittersRCV001021129 RCV001355500 RCV002551835

NM_000059.4(BRCA2):c.3794G>A (p.Cys1265Tyr)

SNV
Germline

Chr13:32338149

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA387778387

rs_397507315

4 SubmittersRCV001021158 RCV001246894 RCV006556938

NM_000059.4(BRCA2):c.3947A>G (p.Asn1316Ser)

SNV
Germline

Chr13:32338302

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387778883

rs_1593900994

3 SubmittersRCV001021493 RCV005093212

NM_000059.4(BRCA2):c.3974C>T (p.Thr1325Ile)

SNV
Germline

Chr13:32338329

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387778943

rs_1593901084

3 SubmittersRCV001021565 RCV003645143

NM_000059.4(BRCA2):c.4169T>G (p.Leu1390Trp)

SNV
Germline

Chr13:32338524

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387780076

rs_1593901612

4 SubmittersRCV001021979 RCV002549546

NM_000059.4(BRCA2):c.4171G>A (p.Glu1391Lys)

SNV
Germline

Chr13:32338526

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA387780084

rs_1593901620

5 SubmittersRCV001021986 RCV001862199 RCV003478646

NM_000059.4(BRCA2):c.4229C>A (p.Thr1410Asn)

SNV
Germline

Chr13:32338584

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA387780344

rs_1593901756

4 SubmittersRCV001022091 RCV001309899 RCV004004623

NM_000059.4(BRCA2):c.4315G>T (p.Ala1439Ser)

SNV
Germline

Chr13:32338670

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387780802

rs_80358666

3 SubmittersRCV001022280 RCV003645144

NM_000059.4(BRCA2):c.4382C>T (p.Ser1461Phe)

SNV
Germline

Chr13:32338737

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387781059

rs_1593902185

4 SubmittersRCV001022393 RCV001873355

NM_000059.4(BRCA2):c.4480A>G (p.Ser1494Gly)

SNV
Germline

Chr13:32338835

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA387781498

rs_1593902515

5 SubmittersRCV001022552 RCV001873361 RCV002281148

NM_000059.4(BRCA2):c.4498G>A (p.Gly1500Arg)

SNV
Germline

Chr13:32338853

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA6940785

rs_765328255

3 SubmittersRCV001022577 RCV001300026

NM_000059.4(BRCA2):c.4502A>G (p.Asn1501Ser)

SNV
Germline

Chr13:32338857

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA247507829

rs_545444016

4 SubmittersRCV001022599 RCV001069791

NM_000059.4(BRCA2):c.4520A>G (p.Gln1507Arg)

SNV
Germline

Chr13:32338875

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA387781658

rs_1473942366

4 SubmittersRCV001022631 RCV002550002 RCV002479218

NM_000059.4(BRCA2):c.4531G>T (p.Glu1511Ter)

SNV
Germline

Chr13:32338886

Pathogenic

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA387781702

rs_376338226

3 SubmittersRCV001022652 RCV003530131 RCV003318656

NM_000059.4(BRCA2):c.4532A>G (p.Glu1511Gly)

SNV
Germline

Chr13:32338887

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA387781708

rs_1593902650

4 SubmittersRCV001022653 RCV003530132 RCV004803376

NM_000059.4(BRCA2):c.4534C>A (p.Arg1512Ser)

SNV
Germline

Chr13:32338889

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387781714

rs_80358684

3 SubmittersRCV001022658 RCV002551858

NM_000059.4(BRCA2):c.4726C>G (p.Leu1576Val)

SNV
Germline

Chr13:32339081

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6940808

rs_758051329

4 SubmittersRCV001022957 RCV002298841 RCV004777925

NM_000059.4(BRCA2):c.4772G>A (p.Cys1591Tyr)

SNV
Germline

Chr13:32339127

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387783169

rs_1555283933

4 SubmittersRCV001023021 RCV001038885

NM_000059.4(BRCA2):c.4790C>T (p.Ser1597Phe)

SNV
Germline

Chr13:32339145

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA387783237

rs_876660146

5 SubmittersRCV001023050 RCV001862247 RCV004803377

NM_000059.4(BRCA2):c.4858T>G (p.Leu1620Val)

SNV
Germline

Chr13:32339213

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387783416

rs_528771743

4 SubmittersRCV001023156 RCV001862252

NM_000059.4(BRCA2):c.4895G>C (p.Ser1632Thr)

SNV
Germline

Chr13:32339250

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387783536

rs_1593903713

4 SubmittersRCV001023211 RCV001862256

NM_000059.4(BRCA2):c.4900T>A (p.Phe1634Ile)

SNV
Germline

Chr13:32339255

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Malignant tumor of breast
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387783551

rs_1555283982

4 SubmittersRCV001023238 RCV001356062 RCV001327896

NM_000059.4(BRCA2):c.4915G>T (p.Val1639Leu)

SNV
Germline

Chr13:32339270

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387783603

rs_80358716

3 SubmittersRCV001023257 RCV001308598

NM_000059.4(BRCA2):c.4927G>T (p.Val1643Leu)

SNV
Germline

Chr13:32339282

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified

Criteria Provided
Conflicting Classifications

CA387783649

rs_879254182

5 SubmittersRCV001023273 RCV001304818 RCV005408647

NM_000059.4(BRCA2):c.5027G>T (p.Ser1676Ile)

SNV
Germline

Chr13:32339382

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387783975

rs_876660686

3 SubmittersRCV001023441 RCV001301918

NM_000059.4(BRCA2):c.5042T>G (p.Val1681Gly)

SNV
Germline

Chr13:32339397

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA387784005

rs_1593904227

4 SubmittersRCV001023463 RCV003530134 RCV006261251

NM_000059.4(BRCA2):c.5083G>A (p.Glu1695Lys)

SNV
Germline

Chr13:32339438

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA247508982

rs_938190132

3 SubmittersRCV001023508 RCV003530135

NM_000059.4(BRCA2):c.5092T>C (p.Phe1698Leu)

SNV
Germline

Chr13:32339447

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387784103

rs_1593904362

3 SubmittersRCV001023525 RCV005093235

NM_000059.4(BRCA2):c.5210A>G (p.Asp1737Gly)

SNV
Germline

Chr13:32339565

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387784615

rs_587778120

3 SubmittersRCV001023736 RCV001067560

NM_000059.4(BRCA2):c.5286T>G (p.Tyr1762Ter)

SNV
Germline

Chr13:32339641

Pathogenic

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Malignant tumor of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA387784772

rs_80358754

4 SubmittersRCV001023865 RCV001063211 RCV001355845

NM_000059.4(BRCA2):c.5371A>G (p.Ile1791Val)

SNV
Germline

Chr13:32339726

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387785145

rs_1214903860

3 SubmittersRCV001023990 RCV003645148

NM_000059.4(BRCA2):c.5377A>C (p.Asn1793His)

SNV
Germline

Chr13:32339732

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA387785178

rs_1593905298

5 SubmittersRCV001023994 RCV001222464 RCV004004644

NM_000059.4(BRCA2):c.5450C>G (p.Ser1817Cys)

SNV
Germline

Chr13:32339805

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA6940871

rs_759741090

4 SubmittersRCV001024130 RCV001339958

NM_000059.4(BRCA2):c.5534G>A (p.Arg1845Lys)

SNV
Germline

Chr13:32339889

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387785923

rs_1593905700

5 SubmittersRCV001024241 RCV002250717 RCV003645150

NM_000059.4(BRCA2):c.5546G>A (p.Gly1849Asp)

SNV
Germline

Chr13:32339901

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Medulloblastoma non-WNT/non-SHH

Criteria Provided
Conflicting Classifications

CA6940884

rs_764527357

7 SubmittersRCV001024258 RCV001055240 RCV006261256 RCV006454712

NM_000059.4(BRCA2):c.5561T>C (p.Val1854Ala)

SNV
Germline

Chr13:32339916

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA387785977

rs_1371364232

5 SubmittersRCV001024277 RCV001862282 RCV006275050 RCV004004646

NM_000059.4(BRCA2):c.5637G>T (p.Glu1879Asp)

SNV
Germline

Chr13:32339992

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387786136

rs_1057521044

4 SubmittersRCV001024347 RCV001593189 RCV002550897

NM_000059.4(BRCA2):c.5639A>G (p.Asn1880Ser)

SNV
Germline

Chr13:32339994

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA387786141

rs_1302337975

5 SubmittersRCV001024349 RCV001364198 RCV004777926

NM_000059.4(BRCA2):c.5713C>A (p.His1905Asn)

SNV
Germline

Chr13:32340068

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA387786794

rs_1593906278

4 SubmittersRCV001024441 RCV003530139 RCV006443696

NM_000059.4(BRCA2):c.5775G>C (p.Gln1925His)

SNV
Germline

Chr13:32340130

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
BRCA2-related disorder

Criteria Provided
Conflicting Classifications

CA387787120

rs_1593906484

4 SubmittersRCV001024518 RCV001873382 RCV004528340

NM_000059.4(BRCA2):c.5821A>G (p.Lys1941Glu)

SNV
Germline

Chr13:32340176

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387787288

rs_1555284411

5 SubmittersRCV001024574 RCV001420903 RCV003478654 RCV002550898

NM_000059.4(BRCA2):c.5839C>G (p.Pro1947Ala)

SNV
Germline

Chr13:32340194

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA387787351

rs_80358812

7 SubmittersRCV001024585 RCV001193317 RCV001065066 RCV004030854 RCV004773233

NM_000059.4(BRCA2):c.5887G>A (p.Gly1963Arg)

SNV
Germline

Chr13:32340242

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387787472

rs_1593906819

3 SubmittersRCV001024640 RCV002552387

NM_000059.4(BRCA2):c.6007A>G (p.Ile2003Val)

SNV
Germline

Chr13:32340362

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA387787691

rs_1593907199

5 SubmittersRCV001024799 RCV001323629 RCV004998568

NM_000059.4(BRCA2):c.6145G>A (p.Val2049Met)

SNV
Germline

Chr13:32340500

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
8 conditions
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387788266

rs_1276100299

5 SubmittersRCV001024941 RCV003478656 RCV005012452 RCV005093255

NM_000059.4(BRCA2):c.6158C>G (p.Ser2053Cys)

SNV
Germline

Chr13:32340513

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA387788313

rs_1555284574

5 SubmittersRCV001024957 RCV001862308 RCV005236536 RCV006261261

NM_000059.4(BRCA2):c.6172T>C (p.Phe2058Leu)

SNV
Germline

Chr13:32340527

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387788360

rs_80358857

4 SubmittersRCV001024969 RCV001193234 RCV006465056

NM_000059.4(BRCA2):c.6277C>T (p.His2093Tyr)

SNV
Germline

Chr13:32340632

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA387788982

rs_1593908107

4 SubmittersRCV001025068 RCV001214457 RCV001811624

NM_000059.4(BRCA2):c.6328G>C (p.Asp2110His)

SNV
Germline

Chr13:32340683

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387789075

rs_1593908267

5 SubmittersRCV001025138 RCV001779103 RCV002551918

NM_000059.4(BRCA2):c.6329A>G (p.Asp2110Gly)

SNV
Germline

Chr13:32340684

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387789077

rs_80358873

3 SubmittersRCV001025139 RCV003645152

NM_000059.4(BRCA2):c.6337A>C (p.Asn2113His)

SNV
Germline

Chr13:32340692

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387789095

rs_1555284644

3 SubmittersRCV001025147 RCV001316257

NM_000059.4(BRCA2):c.6365T>C (p.Met2122Thr)

SNV
Germline

Chr13:32340720

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387789157

rs_1566234419

3 SubmittersRCV001025181 RCV001873391

NM_000059.4(BRCA2):c.6372A>C (p.Lys2124Asn)

SNV
Germline

Chr13:32340727

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA387789174

rs_1593908412

4 SubmittersRCV001025186 RCV001045500 RCV005056786

NM_000059.4(BRCA2):c.6545A>G (p.Lys2182Arg)

SNV
Germline

Chr13:32340900

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387789747

rs_1593909056

3 SubmittersRCV001025391 RCV002550910

NM_000059.4(BRCA2):c.6551A>G (p.Gln2184Arg)

SNV
Germline

Chr13:32340906

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387789786

rs_1216313735

3 SubmittersRCV001025403 RCV003645153

NM_000059.4(BRCA2):c.6638C>G (p.Ser2213Cys)

SNV
Germline

Chr13:32340993

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA387790322

rs_75925841

4 SubmittersRCV001025483 RCV002550913 RCV003493778

NM_000059.4(BRCA2):c.6649A>T (p.Lys2217Ter)

SNV
Germline

Chr13:32341004

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Gastric cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA387790387

rs_1555284779

6 SubmittersRCV001025495 RCV001264523 RCV003160183

NM_000059.4(BRCA2):c.6682G>C (p.Val2228Leu)

SNV
Germline

Chr13:32341037

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387790568

rs_1593909466

3 SubmittersRCV001025531 RCV005093264

NM_000059.4(BRCA2):c.6725A>G (p.Asp2242Gly)

SNV
Germline

Chr13:32341080

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387791049

rs_1593909627

3 SubmittersRCV001025579 RCV001862332

NM_000059.4(BRCA2):c.7043A>G (p.Asn2348Ser)

SNV
Germline

Chr13:32354896

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified

Criteria Provided
Conflicting Classifications

CA6941054

rs_747817752

3 SubmittersRCV001025964 RCV001216628 RCV003493780

NM_000059.4(BRCA2):c.7388A>G (p.Asn2463Ser)

SNV
Germline

Chr13:32355241

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387741749

rs_1593918551

2 SubmittersRCV001026358 RCV003645155

NM_000059.4(BRCA2):c.7390C>T (p.Gln2464Ter)

SNV
Germline

Chr13:32355243

Pathogenic

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA387741762

rs_572945276

2 SubmittersRCV001026368 RCV001380612

NM_000059.4(BRCA2):c.7659C>G (p.Asn2553Lys)

SNV
Germline

Chr13:32357783

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA387744980

rs_1593920730

3 SubmittersRCV001026671 RCV002552416 RCV003493783

NM_000059.4(BRCA2):c.7698T>G (p.Asp2566Glu)

SNV
Germline

Chr13:32357822

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA387745234

rs_1593920849

4 SubmittersRCV001026720 RCV001301983 RCV004004677

NM_000059.4(BRCA2):c.7852A>C (p.Ile2618Leu)

SNV
Germline

Chr13:32362569

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387747049

rs_1371216781

2 SubmittersRCV001026875 RCV005056792

NM_000059.4(BRCA2):c.7855T>C (p.Trp2619Arg)

SNV
Germline

Chr13:32362572

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA387747058

rs_1593923998

6 SubmittersRCV001026877 RCV001340662 RCV006261271 RCV005408649

NM_000059.4(BRCA2):c.7937G>A (p.Cys2646Tyr)

SNV
Germline

Chr13:32362654

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA247475247

rs_952496908

2 SubmittersRCV001026973 RCV005093287

NM_000059.4(BRCA2):c.8025A>G (p.Ile2675Met)

SNV
Germline

Chr13:32363227

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
BRCA2-related cancer predisposition
Condition: not provided

Criteria Provided
Conflicting Classifications

CA387748902

rs_1593924875

4 SubmittersRCV001027081 RCV001344169 RCV005359789 RCV004998576

NM_000059.4(BRCA2):c.8081T>C (p.Ile2694Thr)

SNV
Germline

Chr13:32363283

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA6941186

rs_760139297

2 SubmittersRCV001027151 RCV001862399

NM_000059.4(BRCA2):c.8122A>G (p.Thr2708Ala)

SNV
Germline

Chr13:32363324

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387749393

rs_1593925141

3 SubmittersRCV001027198 RCV001862403

NM_000059.4(BRCA2):c.8131G>T (p.Ala2711Ser)

SNV
Germline

Chr13:32363333

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387749441

rs_1060502439

2 SubmittersRCV001027210 RCV001873427

NM_000059.4(BRCA2):c.8261A>T (p.His2754Leu)

SNV
Germline

Chr13:32363463

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387749997

rs_1555287066

2 SubmittersRCV001027335 RCV002551998

NM_000059.4(BRCA2):c.8275G>C (p.Val2759Leu)

SNV
Germline

Chr13:32363477

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast and/or ovarian cancer
not specified

Criteria Provided
Conflicting Classifications

CA387750059

rs_1320594065

6 SubmittersRCV001027352 RCV001050995 RCV001776092 RCV003492212 RCV006455340

NM_000059.4(BRCA2):c.8303T>C (p.Leu2768Pro)

SNV
Germline

Chr13:32363505

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA387750180

rs_587782732

5 SubmittersRCV001027388 RCV001341364 RCV004587016 RCV005359791

NM_000059.4(BRCA2):c.8441A>G (p.Asn2814Ser)

SNV
Germline

Chr13:32370511

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387752564

rs_1593930427

3 SubmittersRCV001017778 RCV002295321

NM_000059.4(BRCA2):c.8456A>G (p.Asp2819Gly)

SNV
Germline

Chr13:32370526

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387752593

rs_1555287655

2 SubmittersRCV001017821 RCV001210612

NM_000059.4(BRCA2):c.8488T>A (p.Trp2830Arg)

SNV
Germline

Chr13:32370956

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387752655

rs_1304085334

2 SubmittersRCV001017886 RCV001305408

NM_000059.4(BRCA2):c.8492T>G (p.Met2831Arg)

SNV
Germline

Chr13:32370960

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387752666

rs_1384628074

2 SubmittersRCV001017909 RCV001873306

NM_000059.4(BRCA2):c.8531A>G (p.Glu2844Gly)

SNV
Germline

Chr13:32370999

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA247484126

rs_900871740

4 SubmittersRCV001017967 RCV001050193 RCV001759700 RCV003461367

NM_000059.4(BRCA2):c.8634A>G (p.Glu2878=)

SNV
Germline

Chr13:32376671

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA483261744

rs_1593934742

2 SubmittersRCV001018109 RCV003645135

NM_000059.4(BRCA2):c.8637C>A (p.Asn2879Lys)

SNV
Germline

Chr13:32376674

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387754618

rs_775564742

2 SubmittersRCV001018111 RCV003645136

NM_000059.4(BRCA2):c.8641A>G (p.Thr2881Ala)

SNV
Germline

Chr13:32376678

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA387754634

rs_1593934753

5 SubmittersRCV001018116 RCV001772193 RCV002549472 RCV004004574

NM_000059.4(BRCA2):c.8672C>T (p.Thr2891Ile)

SNV
Germline

Chr13:32376709

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA387754746

rs_1401510742

3 SubmittersRCV001018152 RCV002551807 RCV004030408

NM_000059.4(BRCA2):c.8699A>G (p.Asp2900Gly)

SNV
Germline

Chr13:32376736

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387754854

rs_398122712

2 SubmittersRCV001018197 RCV001305856

NM_000059.4(BRCA2):c.8719G>A (p.Ala2907Thr)

SNV
Germline

Chr13:32376756

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA387754948

rs_1593934954

5 SubmittersRCV001018233 RCV001860898 RCV004004576 RCV004720036

NM_000059.4(BRCA2):c.8768A>G (p.Glu2923Gly)

SNV
Germline

Chr13:32379330

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387755781

rs_1593936528

3 SubmittersRCV001018300 RCV001036921

NM_000059.4(BRCA2):c.8980T>C (p.Ser2994Pro)

SNV
Germline

Chr13:32379776

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA387757404

rs_1593937350

3 SubmittersRCV001018588 RCV001860918 RCV003478634

NM_000059.4(BRCA2):c.9037A>T (p.Thr3013Ser)

SNV
Germline

Chr13:32379833

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387757516

rs_1555288470

2 SubmittersRCV001018693 RCV005093170

NM_000059.4(BRCA2):c.9159G>C (p.Glu3053Asp)

SNV
Germline

Chr13:32380048

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA387757953

rs_1289660997

3 SubmittersRCV001018927 RCV001052294 RCV003461375

NM_000059.4(BRCA2):c.9347C>T (p.Pro3116Leu)

SNV
Germline

Chr13:32394779

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387761078

rs_1220080934

2 SubmittersRCV001019193 RCV001205499

NM_000059.4(BRCA2):c.9458G>A (p.Gly3153Asp)

SNV
Germline

Chr13:32394890

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387761684

rs_80359220

2 SubmittersRCV001019367 RCV006556929

NM_000059.4(BRCA2):c.9620T>C (p.Ile3207Thr)

SNV
Germline

Chr13:32397016

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387763691

rs_876658942

3 SubmittersRCV001019576 RCV002549507

NM_000059.4(BRCA2):c.9692C>A (p.Ser3231Ter)

SNV
Germline

Chr13:32398205

Pathogenic

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Multiple Submitters
No Conflicts

CA387765313

rs_1593201677

3 SubmittersRCV001019628 RCV002549508 RCV003485676

NM_000059.4(BRCA2):c.10006A>G (p.Ser3336Gly)

SNV
Germline

Chr13:32398519

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA387767687

rs_1311718055

3 SubmittersRCV001009651 RCV001062384 RCV004569856

NM_000059.4(BRCA2):c.10072G>A (p.Gly3358Arg)

SNV
Germline

Chr13:32398585

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387767898

rs_1593202253

3 SubmittersRCV001016972 RCV002290532 RCV003645133

NM_000059.4(BRCA2):c.10075G>A (p.Glu3359Lys)

SNV
Germline

Chr13:32398588

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA6941470

rs_777397727

2 SubmittersRCV001016974 RCV005093148

NM_024675.4(PALB2):c.1451T>G (p.Leu484Ter)

SNV
Germline

Chr16:23635095

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA395131225

rs_786203714

2 SubmittersRCV001011656 RCV001030651

NM_024675.4(PALB2):c.1384G>T (p.Glu462Ter)

SNV
Germline

Chr16:23635162

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Gastric cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA395131383

rs_1597096243

4 SubmittersRCV001011273 RCV001030221 RCV001030652 RCV003160174

NM_002878.4(RAD51D):c.385C>T (p.Gln129Ter)

SNV
Germline

Chr17:35107083

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 4

Criteria Provided
Multiple Submitters
No Conflicts

CA399089332

rs_1597862732

3 SubmittersRCV001021308 RCV001030590 RCV003642942

NM_007294.4(BRCA1):c.5521A>G (p.Ser1841Gly)

SNV
Germline

Chr17:43045749

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Fanconi anemia, complementation group S
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10590277

rs_80357299

4 SubmittersRCV001024220 RCV001077550 RCV005359782 RCV006465047

NM_007294.4(BRCA1):c.5335C>G (p.Gln1779Glu)

SNV
Germline

Chr17:43049192

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
BRCA1-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA10590792

rs_397509267

7 SubmittersRCV001023944 RCV001039776 RCV001073091 RCV001354199 RCV004803381

NM_007294.4(BRCA1):c.5324T>C (p.Met1775Thr)

SNV
Germline

Chr17:43051071

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10590903

rs_41293463

3 SubmittersRCV001023929 RCV001077186 RCV003530138

NM_007294.4(BRCA1):c.5023A>T (p.Thr1675Ser)

SNV
Germline

Chr17:43067659

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10591467

rs_774452090

7 SubmittersRCV001023439 RCV001076255 RCV001315220 RCV003148913

NM_007294.4(BRCA1):c.4843G>C (p.Ala1615Pro)

SNV
Germline

Chr17:43071071

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA10591839

rs_80356987

4 SubmittersRCV001023141 RCV003645147 RCV005601649

NM_007294.4(BRCA1):c.4034A>T (p.Glu1345Val)

SNV
Germline

Chr17:43091497

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA059040

rs_745638837

4 SubmittersRCV001021722 RCV001862193

NM_007294.4(BRCA1):c.3971T>C (p.Met1324Thr)

SNV
Germline

Chr17:43091560

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10594027

rs_1597860147

3 SubmittersRCV001021560 RCV002550869

NM_007294.4(BRCA1):c.3892T>A (p.Ser1298Thr)

SNV
Germline

Chr17:43091639

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
BRCA1-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA10594178

rs_1597860615

4 SubmittersRCV001021375 RCV002295322 RCV004803372

NM_007294.4(BRCA1):c.3792G>C (p.Lys1264Asn)

SNV
Germline

Chr17:43091739

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified

Criteria Provided
Conflicting Classifications

CA10594387

rs_894781955

4 SubmittersRCV001021154 RCV003645142 RCV003987764

NM_007294.4(BRCA1):c.3782T>A (p.Leu1261Ter)

SNV
Germline

Chr17:43091749

Pathogenic

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA10594406

rs_397507219

2 SubmittersRCV001021125 RCV001861006

NM_007294.4(BRCA1):c.3541G>T (p.Val1181Phe)

SNV
Germline

Chr17:43091990

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10594883

rs_56336919

5 SubmittersRCV001020561 RCV001212287 RCV003230620 RCV006261238

NM_007294.4(BRCA1):c.3523G>A (p.Ala1175Thr)

SNV
Germline

Chr17:43092008

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10594925

rs_1597863144

3 SubmittersRCV001020521 RCV001068024

NM_007294.4(BRCA1):c.3481G>A (p.Glu1161Lys)

SNV
Germline

Chr17:43092050

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA10595017

rs_786203438

6 SubmittersRCV001020406 RCV001283897 RCV001297039 RCV004004602

NM_007294.4(BRCA1):c.3406C>T (p.Pro1136Ser)

SNV
Germline

Chr17:43092125

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA057880

rs_431825395

5 SubmittersRCV001020222 RCV001860975 RCV003233926

NM_007294.4(BRCA1):c.3320A>G (p.Glu1107Gly)

SNV
Germline

Chr17:43092211

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10595345

rs_1597864403

3 SubmittersRCV001019985 RCV005093193

NM_007294.4(BRCA1):c.3182T>C (p.Ile1061Thr)

SNV
Germline

Chr17:43092349

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10595622

rs_1567792602

3 SubmittersRCV001019041 RCV002551815

NM_007294.4(BRCA1):c.3149G>C (p.Ser1050Thr)

SNV
Germline

Chr17:43092382

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10595684

rs_1597865440

3 SubmittersRCV001018812 RCV001873312

NM_007294.4(BRCA1):c.3008T>C (p.Phe1003Ser)

SNV
Germline

Chr17:43092523

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10595980

rs_1344422504

3 SubmittersRCV001018016 RCV001057205

NM_007294.4(BRCA1):c.3001G>A (p.Glu1001Lys)

SNV
Germline

Chr17:43092530

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10595998

rs_886038007

4 SubmittersRCV001017993 RCV001192474 RCV003530126

NM_007294.4(BRCA1):c.2990A>G (p.Asn997Ser)

SNV
Germline

Chr17:43092541

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10596015

rs_1597866298

3 SubmittersRCV001017808 RCV001228594

NM_007294.4(BRCA1):c.2950T>C (p.Phe984Leu)

SNV
Germline

Chr17:43092581

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10596099

rs_1597866542

3 SubmittersRCV001017632 RCV001042215

NM_007294.4(BRCA1):c.2900C>T (p.Thr967Ile)

SNV
Germline

Chr17:43092631

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10596191

rs_1249532992

4 SubmittersRCV001016916 RCV002549444

NM_007294.4(BRCA1):c.2836A>G (p.Ile946Val)

SNV
Germline

Chr17:43092695

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
Familial cancer of breast
Fanconi anemia, complementation group S
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA10596316

rs_876660901

5 SubmittersRCV001016569 RCV001236389 RCV002268405 RCV005359764

NM_007294.4(BRCA1):c.2794G>T (p.Val932Phe)

SNV
Germline

Chr17:43092737

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10596407

rs_762589415

3 SubmittersRCV001016619 RCV005093141

NM_007294.4(BRCA1):c.2751C>G (p.Ile917Met)

SNV
Germline

Chr17:43092780

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10596488

rs_1597867872

4 SubmittersRCV001016499 RCV002511015 RCV005093138

NM_007294.4(BRCA1):c.2737A>G (p.Asn913Asp)

SNV
Germline

Chr17:43092794

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10596516

rs_1597867982

3 SubmittersRCV001016444 RCV002549440

NM_007294.4(BRCA1):c.2708G>A (p.Cys903Tyr)

SNV
Germline

Chr17:43092823

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10596582

rs_1597868170

4 SubmittersRCV001016243 RCV002295320

NM_007294.4(BRCA1):c.2620A>G (p.Asn874Asp)

SNV
Germline

Chr17:43092911

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10596756

rs_1064795862

3 SubmittersRCV001016127 RCV001860817

NM_007294.4(BRCA1):c.2578A>G (p.Thr860Ala)

SNV
Germline

Chr17:43092953

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified

Criteria Provided
Conflicting Classifications

CA058451

rs_373207084

4 SubmittersRCV001015998 RCV001873271 RCV006274110

NM_007294.4(BRCA1):c.2576A>G (p.Asn859Ser)

SNV
Germline

Chr17:43092955

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10596839

rs_1597869096

4 SubmittersRCV001015995 RCV004004555 RCV006612548

NM_007294.4(BRCA1):c.2516A>G (p.His839Arg)

SNV
Germline

Chr17:43093015

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10596962

rs_1050289746

6 SubmittersRCV001015822 RCV001207636 RCV002298828 RCV003478624

NM_007294.4(BRCA1):c.2476A>C (p.Thr826Pro)

SNV
Germline

Chr17:43093055

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10597051

rs_1597869768

3 SubmittersRCV001015651 RCV001873265

NM_007294.4(BRCA1):c.2419G>A (p.Ala807Thr)

SNV
Germline

Chr17:43093112

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA058566

rs_80357240

3 SubmittersRCV001015484 RCV002549420

NM_007294.4(BRCA1):c.2372T>G (p.Leu791Arg)

SNV
Germline

Chr17:43093159

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA058597

rs_774730386

4 SubmittersRCV001015338 RCV001337936 RCV003328644

NM_007294.4(BRCA1):c.2329T>C (p.Tyr777His)

SNV
Germline

Chr17:43093202

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10597344

rs_397507199

4 SubmittersRCV001015207 RCV001210224

NM_007294.4(BRCA1):c.2290G>A (p.Val764Ile)

SNV
Germline

Chr17:43093241

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified

Criteria Provided
Conflicting Classifications

CA058683

rs_768904580

4 SubmittersRCV001015089 RCV002295319 RCV003155337

NM_007294.4(BRCA1):c.2218G>A (p.Val740Met)

SNV
Germline

Chr17:43093313

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10597562

rs_80357415

4 SubmittersRCV001014783 RCV006272413 RCV006629223

NM_007294.4(BRCA1):c.2113G>A (p.Ala705Thr)

SNV
Germline

Chr17:43093418

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10597776

rs_1597872085

3 SubmittersRCV001014507 RCV003645129

NM_007294.4(BRCA1):c.2099T>A (p.Leu700Gln)

SNV
Germline

Chr17:43093432

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10597805

rs_1567797015

4 SubmittersRCV001014429 RCV002550792

NM_007294.4(BRCA1):c.2096A>G (p.Glu699Gly)

SNV
Germline

Chr17:43093435

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10597810

rs_1597872173

4 SubmittersRCV001014415 RCV001225659

NM_007294.4(BRCA1):c.2071A>G (p.Arg691Gly)

SNV
Germline

Chr17:43093460

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10597861

rs_1597872365

4 SubmittersRCV001014290 RCV004004530 RCV005093109

NM_007294.4(BRCA1):c.2062A>G (p.Thr688Ala)

SNV
Germline

Chr17:43093469

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10597878

rs_1597872432

3 SubmittersRCV001014279 RCV001062994

NM_007294.4(BRCA1):c.2029G>T (p.Gly677Ter)

SNV
Germline

Chr17:43093502

Pathogenic

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA10597951

rs_1597872603

2 SubmittersRCV001014134 RCV001860758

NM_007294.4(BRCA1):c.2027C>T (p.Thr676Ile)

SNV
Germline

Chr17:43093504

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10597954

rs_1597872628

3 SubmittersRCV001014110 RCV001059917

NM_007294.4(BRCA1):c.1906T>G (p.Cys636Gly)

SNV
Germline

Chr17:43093625

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10598211

rs_1334848140

3 SubmittersRCV001013580 RCV001873247

NM_007294.4(BRCA1):c.1888A>T (p.Asn630Tyr)

SNV
Germline

Chr17:43093643

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10598244

rs_1597873547

3 SubmittersRCV001013564 RCV001051758

NM_007294.4(BRCA1):c.1861C>T (p.His621Tyr)

SNV
Germline

Chr17:43093670

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10598296

rs_1597873711

3 SubmittersRCV001013430 RCV001873244

NM_007294.4(BRCA1):c.1854G>T (p.Arg618Ser)

SNV
Germline

Chr17:43093677

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10598312

rs_1060504585

5 SubmittersRCV001013353 RCV001349100 RCV004773217

NM_007294.4(BRCA1):c.1841A>G (p.Lys614Arg)

SNV
Germline

Chr17:43093690

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA10598336

rs_1597873869

6 SubmittersRCV001013367 RCV001361991 RCV001766832 RCV003987761

NM_007294.4(BRCA1):c.1764C>G (p.Ser588Arg)

SNV
Germline

Chr17:43093767

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10598498

rs_1597874296

5 SubmittersRCV001013077 RCV001811623 RCV005093095

NM_007294.4(BRCA1):c.1742A>G (p.Lys581Arg)

SNV
Germline

Chr17:43093789

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10598545

rs_1597874458

4 SubmittersRCV001012923 RCV001308523 RCV003478617

NM_007294.4(BRCA1):c.1717T>A (p.Ser573Thr)

SNV
Germline

Chr17:43093814

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA10598595

rs_876660448

5 SubmittersRCV001012857 RCV002295317 RCV003483752

NM_007294.4(BRCA1):c.1706A>G (p.Asn569Ser)

SNV
Germline

Chr17:43093825

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10598615

rs_1060502329

3 SubmittersRCV001012753 RCV002549377

NM_007294.4(BRCA1):c.1661A>G (p.Glu554Gly)

SNV
Germline

Chr17:43093870

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA10598713

rs_1597874812

4 SubmittersRCV001012634 RCV001216000 RCV004004513

NM_007294.4(BRCA1):c.1607C>T (p.Thr536Ile)

SNV
Germline

Chr17:43093924

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10598826

rs_398122638

3 SubmittersRCV001012401 RCV001860706

NM_007294.4(BRCA1):c.1552A>G (p.Ile518Val)

SNV
Germline

Chr17:43093979

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10598943

rs_1597875402

5 SubmittersRCV001012129 RCV003645125 RCV006261208

NM_007294.4(BRCA1):c.1501A>C (p.Lys501Gln)

SNV
Germline

Chr17:43094030

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10599045

rs_1064793883

3 SubmittersRCV001011900 RCV003645124

NM_007294.4(BRCA1):c.1457T>C (p.Phe486Ser)

SNV
Germline

Chr17:43094074

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA057258

rs_774159828

3 SubmittersRCV001011676 RCV001066776

NM_007294.4(BRCA1):c.1436A>G (p.Glu479Gly)

SNV
Germline

Chr17:43094095

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10599171

rs_1597876039

3 SubmittersRCV001011570 RCV001860669

NM_007294.4(BRCA1):c.1412T>C (p.Leu471Pro)

SNV
Germline

Chr17:43094119

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10599222

rs_1167718207

3 SubmittersRCV001011475 RCV003645123

NM_007294.4(BRCA1):c.1363A>G (p.Asn455Asp)

SNV
Germline

Chr17:43094168

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10599323

rs_1468740591

4 SubmittersRCV001011133 RCV003769441

NM_007294.4(BRCA1):c.1334A>G (p.Glu445Gly)

SNV
Germline

Chr17:43094197

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10599382

rs_1597876729

3 SubmittersRCV001011106 RCV001860658

NM_007294.4(BRCA1):c.1331G>A (p.Ser444Asn)

SNV
Germline

Chr17:43094200

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10599389

rs_1597876749

4 SubmittersRCV001011079 RCV006250905 RCV006464980

NM_007294.4(BRCA1):c.1322T>C (p.Ile441Thr)

SNV
Germline

Chr17:43094209

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10599408

rs_1163497041

4 SubmittersRCV001011013 RCV001218808

NM_007294.4(BRCA1):c.1207T>G (p.Ser403Ala)

SNV
Germline

Chr17:43094324

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
BRCA1-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA10599635

rs_1555592200

5 SubmittersRCV001010285 RCV001034788 RCV004803348

NM_007294.4(BRCA1):c.1181G>A (p.Gly394Asp)

SNV
Germline

Chr17:43094350

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Familial pancreatic carcinoma

Criteria Provided
Conflicting Classifications

CA10599689

rs_1555592295

4 SubmittersRCV001010186 RCV002551727 RCV005359746

NM_007294.4(BRCA1):c.1144G>T (p.Val382Phe)

SNV
Germline

Chr17:43094387

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10599768

rs_1160165083

3 SubmittersRCV001017448 RCV001211353

NM_007294.4(BRCA1):c.1007C>G (p.Thr336Arg)

SNV
Germline

Chr17:43094524

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
BRCA1-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA10600047

rs_1597878639

5 SubmittersRCV001009674 RCV001374318 RCV003316818 RCV004803344

NM_007294.4(BRCA1):c.914G>T (p.Cys305Phe)

SNV
Germline

Chr17:43094617

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA056901

rs_751124745

3 SubmittersRCV001018918 RCV001860931

NM_007294.4(BRCA1):c.896T>C (p.Val299Ala)

SNV
Germline

Chr17:43094635

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10600282

rs_1597879349

3 SubmittersRCV001018575 RCV001234635

NM_007294.4(BRCA1):c.852G>C (p.Gln284His)

SNV
Germline

Chr17:43094679

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
not specified

Criteria Provided
Conflicting Classifications

CA10600381

rs_1597879571

5 SubmittersRCV001017965 RCV002550836 RCV004004570 RCV005056765

NM_007294.4(BRCA1):c.769C>T (p.His257Tyr)

SNV
Germline

Chr17:43094762

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10600544

rs_1597880077

3 SubmittersRCV001026724 RCV001202280

NM_007294.4(BRCA1):c.686C>T (p.Ser229Phe)

SNV
Germline

Chr17:43094845

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10600714

rs_1597880556

3 SubmittersRCV001025748 RCV005093265

NM_007294.4(BRCA1):c.512T>C (p.Ile171Thr)

SNV
Germline

Chr17:43099810

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10601120

rs_1597887805

2 SubmittersRCV001023594 RCV001046899

NM_007294.4(BRCA1):c.395A>G (p.Asn132Ser)

SNV
Germline

Chr17:43104168

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10601352

rs_1597896639

4 SubmittersRCV001021522 RCV004569999 RCV003769546

NM_007294.4(BRCA1):c.347A>G (p.Glu116Gly)

SNV
Germline

Chr17:43104216

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA10601453

rs_1597896908

4 SubmittersRCV001020399 RCV001283896 RCV001304917 RCV004589982

NM_007294.4(BRCA1):c.176C>T (p.Ser59Leu)

SNV
Germline

Chr17:43106492

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA054201

rs_199522616

5 SubmittersRCV001013089 RCV001072604 RCV001254343 RCV002298823

NM_007294.4(BRCA1):c.91A>G (p.Ile31Val)

SNV
Germline

Chr17:43115769

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Fanconi anemia, complementation group S

Criteria Provided
Conflicting Classifications

CA10601972

rs_1597912041

4 SubmittersRCV001018996 RCV001076169 RCV004693442 RCV005359773

NM_007294.4(BRCA1):c.80G>A (p.Cys27Tyr)

SNV
Germline

Chr17:43124017

Likely pathogenic

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
BRCA1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA10601998

rs_1064793052

5 SubmittersRCV001027178 RCV001049303 RCV001077721 RCV004554845

NM_058216.3(RAD51C):c.20G>C (p.Arg7Pro)

SNV
Germline

Chr17:58692663

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Fanconi anemia complementation group O

Criteria Provided
Conflicting Classifications

CA400336247

rs_892567748

3 SubmittersRCV001014437 RCV001030582 RCV001860761

NM_058216.3(RAD51C):c.133G>T (p.Glu45Ter)

SNV
Germline

Chr17:58692776

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Fanconi anemia complementation group O
Breast-ovarian cancer, familial, susceptibility to, 3

Criteria Provided
Multiple Submitters
No Conflicts

CA400337730

rs_1598449660

4 SubmittersRCV001010939 RCV001030585 RCV001860653 RCV004030308

NM_032043.3(BRIP1):c.664A>T (p.Lys222Ter)

SNV
Germline

Chr17:61808721

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group J
Hereditary breast ovarian cancer syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA400485178

rs_1603346983

4 SubmittersRCV001025497 RCV001381445 RCV002236282 RCV005411637

NM_007194.4(CHEK2):c.1180G>T (p.Glu394Ter)

SNV
Germline

Chr22:28695789

Pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Hereditary breast ovarian cancer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA411096811

rs_587780169

3 SubmittersRCV001010166 RCV003336227 RCV004702576

NM_007194.4(CHEK2):c.846T>C (p.His282=)

SNV
Germline

Chr22:28710006

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA323020968

rs_987815892

4 SubmittersRCV001017853 RCV001036740 RCV004689958

NM_007194.4(CHEK2):c.683G>A (p.Ser228Asn)

SNV
Germline

Chr22:28719395

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Familial cancer of breast
CHEK2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA411104827

rs_1601805361

5 SubmittersRCV001025715 RCV001030686 RCV001759918 RCV001873398 RCV004527409

NM_000059.4(BRCA2):c.67+3A>G

SNV
Germline

Chr13:32316530

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA915946922

rs_1593880835

4 SubmittersRCV001025553 RCV001356037 RCV001862331

NM_000059.4(BRCA2):c.475+2T>C

SNV
Germline

Chr13:32326152

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA387757265

rs_1555280966

2 SubmittersRCV001022990 RCV001388345

NM_000059.4(BRCA2):c.7435+5T>G

SNV
Germline

Chr13:32355293

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA6941092

rs_775973095

3 SubmittersRCV001026434 RCV003493781 RCV003645156

NM_000059.4(BRCA2):c.8755-2A>G

SNV
Germline

Chr13:32379315

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA387755677

rs_1566252482

4 SubmittersRCV001018280 RCV006455335

NM_000059.4(BRCA2):c.8755-1G>T

SNV
Germline

Chr13:32379316

Pathogenic

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA387755687

rs_81002812

2 SubmittersRCV001018279 RCV004017774

NM_000059.4(BRCA2):c.8954-3C>T

SNV
Germline

Chr13:32379747

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA6941322

rs_81002844

4 SubmittersRCV001018543 RCV001585924 RCV002551811

NM_024675.4(PALB2):c.2834+2T>C

SNV
Germline

Chr16:23624007

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Gastric cancer
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 5

Criteria Provided
Multiple Submitters
No Conflicts

CA395144743

rs_864622481

7 SubmittersRCV001016727 RCV001030347 RCV001860839 RCV003160177 RCV005236531 RCV005401689

NM_007294.4(BRCA1):c.548-4T>C

SNV
Germline

Chr17:43097293

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA915950143

rs_1597884162

2 SubmittersRCV001024165 RCV001862279

NM_007294.4(BRCA1):c.135-4A>G

SNV
Germline

Chr17:43106537

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA915950068

rs_1597900683

5 SubmittersRCV001011141 RCV001072550 RCV001442276 RCV005408642 RCV006261204

NM_032043.3(BRIP1):c.918+2T>C

SNV
Germline

Chr17:61808465

Likely pathogenic

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Familial cancer of breast
Fanconi anemia complementation group J

Criteria Provided
Multiple Submitters
No Conflicts

CA400484626

rs_1603346587

3 SubmittersRCV001018964 RCV001030544 RCV006556927

NM_007194.4(CHEK2):c.908+2T>C

SNV
Germline

Chr22:28703503

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Hereditary breast ovarian cancer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA411100867

rs_1601752066

4 SubmittersRCV001018803 RCV001239956 RCV002298833

NM_000251.3(MSH2):c.448G>T (p.Val150Phe)

SNV
Germline

Chr2:47410175

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Lynch syndrome
not specified
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA346730484

rs_1558459157

4 SubmittersRCV001030706 RCV001357699 RCV002249638 RCV002327243

NM_000249.4(MLH1):c.1855G>A (p.Ala619Thr)

SNV
Germline

Chr3:37047642

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms

Criteria Provided
Conflicting Classifications

CA352065160

rs_267607866

4 SubmittersRCV001030631 RCV002409352 RCV004555612 RCV003758991

NM_139076.3(ABRAXAS1):c.1022C>T (p.Pro341Leu)

SNV
Germline

Chr4:83462677

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA357255455

rs_1722173605

3 SubmittersRCV001030694 RCV001056044 RCV004030923

NM_021930.6(RINT1):c.311G>A (p.Arg104Gln)

SNV
Germline

Chr7:105542445

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA164048588

rs_866948739

3 SubmittersRCV001030662 RCV001307212 RCV004030920

NM_021930.6(RINT1):c.2036T>C (p.Val679Ala)

SNV
Germline

Chr7:105565426

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA368814952

rs_1791671293

3 SubmittersRCV001030667 RCV001055631 RCV004599238

NM_000314.8(PTEN):c.-475G>A

SNV
Germline

Chr10:87863995

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA211453291

rs_889404566

3 SubmittersRCV001030726 RCV006265534 RCV005436458

NM_002907.4(RECQL):c.742G>A (p.Ala248Thr)

SNV
Germline

Chr12:21477928

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Condition: not provided
not specified
RECON progeroid syndrome

Criteria Provided
Conflicting Classifications

CA6478980

rs_202110155

5 SubmittersRCV001030659 RCV001046741 RCV004030918 RCV006450846

NM_133510.4(RAD51B):c.579A>C (p.Glu193Asp)

SNV
Germline

Chr14:67887027

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
not specified

Criteria Provided
Conflicting Classifications

CA7241144

rs_371376587

2 SubmittersRCV001030515 RCV004857744

NM_000057.4(BLM):c.3751+2T>C

SNV
Germline

Chr15:90804361

Likely pathogenic

Hereditary breast ovarian cancer syndrome
Bloom syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA393848319

rs_1897239414

2 SubmittersRCV001030460 RCV002552042

NM_001042492.3(NF1):c.2351G>C (p.Trp784Ser)

SNV
Germline

Chr17:31227548

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Neurofibromatosis, type 1

Criteria Provided
Conflicting Classifications

CA398983100

rs_2067038047

3 SubmittersRCV001030573 RCV001221530

NM_000059.4(BRCA2):c.3737A>G (p.Asn1246Ser)

SNV
Germline

Chr13:32338092

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387778132

rs_876660679

3 SubmittersRCV001034467 RCV002346235

NM_000051.4(ATM):c.2813C>T (p.Pro938Leu)

SNV
Germline

Chr11:108268584

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA382545741

rs_1183804155

4 SubmittersRCV001070304 RCV002225793 RCV004671214

NM_000059.4(BRCA2):c.400C>A (p.Leu134Ile)

SNV
Germline

Chr13:32325159

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387756706

rs_2072335234

2 SubmittersRCV001041077 RCV004950144

NM_000059.4(BRCA2):c.919A>G (p.Ser307Gly)

SNV
Germline

Chr13:32332397

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA247496240

rs_1039490629

3 SubmittersRCV001070682 RCV003158418

NM_000059.4(BRCA2):c.946A>G (p.Arg316Gly)

SNV
Germline

Chr13:32332424

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387760827

rs_2072400992

2 SubmittersRCV001061993 RCV003158388

NM_000059.4(BRCA2):c.967G>T (p.Val323Leu)

SNV
Germline

Chr13:32332445

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387760907

rs_1566222487

2 SubmittersRCV001064990 RCV003158400

NM_000059.4(BRCA2):c.1007C>A (p.Ala336Glu)

SNV
Germline

Chr13:32332485

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387761079

rs_2072402481

2 SubmittersRCV001047607 RCV003158340

NM_000059.4(BRCA2):c.1048G>T (p.Glu350Ter)

SNV
Germline

Chr13:32332526

Pathogenic

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA387761266

rs_2072403231

2 SubmittersRCV001044365 RCV002400253

NM_000059.4(BRCA2):c.1063G>T (p.Val355Leu)

SNV
Germline

Chr13:32332541

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387761355

rs_2072403612

2 SubmittersRCV001061333 RCV003158386

NM_000059.4(BRCA2):c.1148T>A (p.Ile383Asn)

SNV
Germline

Chr13:32332626

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387761857

rs_2072405281

2 SubmittersRCV001067731 RCV003158408

NM_000059.4(BRCA2):c.1241T>G (p.Leu414Trp)

SNV
Germline

Chr13:32332719

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387762233

rs_397507576

3 SubmittersRCV001037421 RCV003158299

NM_000059.4(BRCA2):c.1252T>C (p.Ser418Pro)

SNV
Germline

Chr13:32332730

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387762282

rs_2072407631

3 SubmittersRCV001039888 RCV002416341

NM_000059.4(BRCA2):c.1271C>G (p.Ser424Ter)

SNV
Germline

Chr13:32332749

Pathogenic

Hereditary breast ovarian cancer syndrome

Criteria Provided
Single Submitter

CA387762381

rs_1566223138

1 SubmittersRCV001060024

NM_000059.4(BRCA2):c.1283T>C (p.Leu428Pro)

SNV
Germline

Chr13:32332761

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387762441

rs_2072408424

2 SubmittersRCV001041673 RCV003158315

NM_000059.4(BRCA2):c.1287A>T (p.Leu429Phe)

SNV
Germline

Chr13:32332765

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387762456

rs_80359782

2 SubmittersRCV001063939 RCV003158397

NM_000059.4(BRCA2):c.1349C>T (p.Ser450Phe)

SNV
Germline

Chr13:32332827

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387762770

rs_876659037

2 SubmittersRCV001056034 RCV003158371

NM_000059.4(BRCA2):c.1364C>T (p.Ser455Leu)

SNV
Germline

Chr13:32332842

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387762874

rs_2072410817

2 SubmittersRCV001059155 RCV003158380

NM_000059.4(BRCA2):c.1384G>A (p.Glu462Lys)

SNV
Germline

Chr13:32332862

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA387763024

rs_1593892698

3 SubmittersRCV001036152 RCV003158296 RCV003478664

NM_000059.4(BRCA2):c.1444C>A (p.Leu482Ile)

SNV
Germline

Chr13:32332922

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387764312

rs_587776460

2 SubmittersRCV001061205 RCV003158385

NM_000059.4(BRCA2):c.1534C>T (p.Pro512Ser)

SNV
Germline

Chr13:32333012

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387764605

rs_2072415642

2 SubmittersRCV001035987 RCV003158295

NM_000059.4(BRCA2):c.1549A>G (p.Asn517Asp)

SNV
Germline

Chr13:32333027

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387764657

rs_2072416152

2 SubmittersRCV001039582 RCV003158305

NM_000059.4(BRCA2):c.1661G>C (p.Cys554Ser)

SNV
Germline

Chr13:32333139

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387765032

rs_748215651

2 SubmittersRCV001063001 RCV003158394

NM_000059.4(BRCA2):c.1732G>A (p.Gly578Ser)

SNV
Germline

Chr13:32333210

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387765397

rs_1555282036

3 SubmittersRCV001042959 RCV003158321

NM_000059.4(BRCA2):c.1738A>G (p.Ile580Val)

SNV
Germline

Chr13:32333216

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387765425

rs_2072420748

2 SubmittersRCV001038252 RCV003158303

NM_000059.4(BRCA2):c.1740A>G (p.Ile580Met)

SNV
Germline

Chr13:32333218

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA6940538

rs_750989404

4 SubmittersRCV001042317 RCV001191189

NM_000059.4(BRCA2):c.1787A>G (p.Asp596Gly)

SNV
Germline

Chr13:32333265

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387765741

rs_2072422145

2 SubmittersRCV001044137 RCV003158325

NM_000059.4(BRCA2):c.1927G>C (p.Val643Leu)

SNV
Germline

Chr13:32336282

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387768285

rs_748394046

4 SubmittersRCV001043129 RCV003158323

NM_000059.4(BRCA2):c.1943C>T (p.Ser648Leu)

SNV
Germline

Chr13:32336298

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387768384

rs_886040398

3 SubmittersRCV001065340 RCV003158401

NM_000059.4(BRCA2):c.1967C>T (p.Thr656Ile)

SNV
Germline

Chr13:32336322

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Pancreatic cancer, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA387768521

rs_876660857

4 SubmittersRCV001048220 RCV002416371 RCV003141973

NM_000059.4(BRCA2):c.2020G>T (p.Glu674Ter)

SNV
Germline

Chr13:32336375

Pathogenic/Likely pathogenic

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA387768824

rs_879255439

3 SubmittersRCV001055104 RCV002416407 RCV003473656

NM_000059.4(BRCA2):c.2041G>C (p.Val681Leu)

SNV
Germline

Chr13:32336396

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387768926

rs_2072449369

2 SubmittersRCV001058278 RCV003158378

NM_000059.4(BRCA2):c.2107A>G (p.Thr703Ala)

SNV
Germline

Chr13:32336462

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA387769947

rs_2072450524

3 SubmittersRCV001037941 RCV003158301 RCV003223689

NM_000059.4(BRCA2):c.2254G>A (p.Asp752Asn)

SNV
Germline

Chr13:32336609

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387770920

rs_2072453633

2 SubmittersRCV001057062 RCV003158375

NM_000059.4(BRCA2):c.2254G>C (p.Asp752His)

SNV
Germline

Chr13:32336609

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387770922

rs_2072453633

2 SubmittersRCV001062217 RCV003158389

NM_000059.4(BRCA2):c.2344C>G (p.Leu782Val)

SNV
Germline

Chr13:32336699

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA6940596

rs_749810048

4 SubmittersRCV001057605 RCV001176135 RCV004000091

NM_000059.4(BRCA2):c.2352G>A (p.Met784Ile)

SNV
Germline

Chr13:32336707

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387771653

rs_2072455836

3 SubmittersRCV001035492 RCV002445208

NM_000059.4(BRCA2):c.2455C>G (p.Gln819Glu)

SNV
Germline

Chr13:32336810

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387772300

rs_397507629

2 SubmittersRCV001055854 RCV003158370

NM_000059.4(BRCA2):c.2466T>A (p.Cys822Ter)

SNV
Germline

Chr13:32336821

Pathogenic

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Multiple Submitters
No Conflicts

CA387772346

rs_2072458139

3 SubmittersRCV001038402 RCV003346265 RCV005601660

NM_000059.4(BRCA2):c.2518A>G (p.Met840Val)

SNV
Germline

Chr13:32336873

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387772460

rs_2072459289

4 SubmittersRCV001050467 RCV001524605

NM_000059.4(BRCA2):c.2590C>A (p.Gln864Lys)

SNV
Germline

Chr13:32336945

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387772608

rs_1060502414

3 SubmittersRCV001035243 RCV003158291

NM_000059.4(BRCA2):c.2614A>G (p.Lys872Glu)

SNV
Germline

Chr13:32336969

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387773169

rs_2072461201

2 SubmittersRCV001035592 RCV003158293

NM_000059.4(BRCA2):c.2834A>T (p.Lys945Ile)

SNV
Germline

Chr13:32337189

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387773861

rs_1434920074

2 SubmittersRCV001049216 RCV003158352

NM_000059.4(BRCA2):c.3051C>G (p.Ile1017Met)

SNV
Germline

Chr13:32337406

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387775038

rs_786201561

2 SubmittersRCV001047793 RCV003158342

NM_000059.4(BRCA2):c.3136G>A (p.Glu1046Lys)

SNV
Germline

Chr13:32337491

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA6940670

rs_772342691

3 SubmittersRCV001070717 RCV002320350

NM_000059.4(BRCA2):c.3215T>G (p.Leu1072Ter)

SNV
Germline

Chr13:32337570

Pathogenic

Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA387775890

rs_2072475273

3 SubmittersRCV001043702 RCV001784589 RCV004031328

NM_000059.4(BRCA2):c.3250A>G (p.Ser1084Gly)

SNV
Germline

Chr13:32337605

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA6940683

rs_369907107

2 SubmittersRCV001054962 RCV003158368

NM_000059.4(BRCA2):c.3306T>A (p.Asn1102Lys)

SNV
Germline

Chr13:32337661

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387776187

rs_1300305757

4 SubmittersRCV001071164 RCV003478691 RCV003158421

NM_000059.4(BRCA2):c.3307T>G (p.Leu1103Val)

SNV
Germline

Chr13:32337662

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA6940686

rs_773303914

2 SubmittersRCV001068762 RCV003158414

NM_000059.4(BRCA2):c.3325G>C (p.Ala1109Pro)

SNV
Germline

Chr13:32337680

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387776253

rs_752886421

2 SubmittersRCV001050065 RCV003158357

NM_000059.4(BRCA2):c.3391A>G (p.Arg1131Gly)

SNV
Germline

Chr13:32337746

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA387776450

rs_2072479150

3 SubmittersRCV001038124 RCV003158302 RCV004004719

NM_000059.4(BRCA2):c.3404A>G (p.Tyr1135Cys)

SNV
Germline

Chr13:32337759

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA387776478

rs_2072479515

6 SubmittersRCV001049830 RCV001189035 RCV004004796 RCV005401708

NM_000059.4(BRCA2):c.3407T>G (p.Ile1136Arg)

SNV
Germline

Chr13:32337762

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387776484

rs_398122765

2 SubmittersRCV001047288 RCV003158338

NM_000059.4(BRCA2):c.3482A>T (p.Asp1161Val)

SNV
Germline

Chr13:32337837

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387776870

rs_1060502458

3 SubmittersRCV001071715 RCV003158424

NM_000059.4(BRCA2):c.3521G>T (p.Gly1174Val)

SNV
Germline

Chr13:32337876

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387777054

rs_1555283272

5 SubmittersRCV001059937 RCV002451254

NM_000059.4(BRCA2):c.3601A>G (p.Asn1201Asp)

SNV
Germline

Chr13:32337956

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387777499

rs_2072484460

2 SubmittersRCV001060716 RCV003158384

NM_000059.4(BRCA2):c.3677A>C (p.Lys1226Thr)

SNV
Germline

Chr13:32338032

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387778003

rs_80358612

2 SubmittersRCV001039978 RCV003158308

NM_000059.4(BRCA2):c.3688T>C (p.Ser1230Pro)

SNV
Germline

Chr13:32338043

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA387778024

rs_876659979

4 SubmittersRCV001065416 RCV003158402 RCV004000145

NM_000059.4(BRCA2):c.3752C>A (p.Thr1251Asn)

SNV
Germline

Chr13:32338107

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387778188

rs_1555283384

2 SubmittersRCV001041271 RCV003158313

NM_000059.4(BRCA2):c.3763G>A (p.Val1255Ile)

SNV
Germline

Chr13:32338118

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387778224

rs_80358617

3 SubmittersRCV001035008 RCV002346240

NM_000059.4(BRCA2):c.3926T>C (p.Ile1309Thr)

SNV
Germline

Chr13:32338281

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387778839

rs_1566229403

3 SubmittersRCV001062785 RCV002374959

NM_000059.4(BRCA2):c.3996T>G (p.His1332Gln)

SNV
Germline

Chr13:32338351

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387778984

rs_1593901143

2 SubmittersRCV001048321 RCV003158346

NM_000059.4(BRCA2):c.4011T>G (p.Asp1337Glu)

SNV
Germline

Chr13:32338366

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387779019

rs_2072493596

3 SubmittersRCV001035232 RCV003158290

NM_000059.4(BRCA2):c.4049A>C (p.His1350Pro)

SNV
Germline

Chr13:32338404

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387779103

rs_2072494442

2 SubmittersRCV001045263 RCV003158329

NM_000059.4(BRCA2):c.4049A>G (p.His1350Arg)

SNV
Germline

Chr13:32338404

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387779104

rs_2072494442

2 SubmittersRCV001052298 RCV003158363

NM_000059.4(BRCA2):c.4124A>G (p.Glu1375Gly)

SNV
Germline

Chr13:32338479

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387779345

rs_2072496648

2 SubmittersRCV001067995 RCV003158410

NM_000059.4(BRCA2):c.4132A>G (p.Thr1378Ala)

SNV
Germline

Chr13:32338487

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387779380

rs_1204269313

2 SubmittersRCV001056735 RCV003158374

NM_000059.4(BRCA2):c.4135C>T (p.Gln1379Ter)

SNV
Germline

Chr13:32338490

Pathogenic/Likely pathogenic

Hereditary breast ovarian cancer syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA387779388

rs_2072497088

2 SubmittersRCV001053734 RCV004570202

NM_000059.4(BRCA2):c.4255A>C (p.Lys1419Gln)

SNV
Germline

Chr13:32338610

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387780454

rs_2072499955

2 SubmittersRCV001047307 RCV003158339

NM_000059.4(BRCA2):c.4322A>C (p.Glu1441Ala)

SNV
Germline

Chr13:32338677

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387780824

rs_1198430908

2 SubmittersRCV001070822 RCV003158419

NM_000059.4(BRCA2):c.4364A>T (p.Glu1455Val)

SNV
Germline

Chr13:32338719

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387780982

rs_2072502464

4 SubmittersRCV001070105 RCV003158416

NM_000059.4(BRCA2):c.4391C>G (p.Ser1464Cys)

SNV
Germline

Chr13:32338746

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387781093

rs_587776464

4 SubmittersRCV001062386 RCV003158392

NM_000059.4(BRCA2):c.4415A>G (p.Lys1472Arg)

SNV
Germline

Chr13:32338770

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA387781204

rs_2072503705

5 SubmittersRCV001041779 RCV003158316 RCV006261287

NM_000059.4(BRCA2):c.4463A>G (p.His1488Arg)

SNV
Germline

Chr13:32338818

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387781424

rs_1335405008

3 SubmittersRCV001068027 RCV002327353

NM_000059.4(BRCA2):c.4474A>G (p.Lys1492Glu)

SNV
Germline

Chr13:32338829

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387781472

rs_1057517636

2 SubmittersRCV001056309 RCV003158372

NM_000059.4(BRCA2):c.4499G>A (p.Gly1500Glu)

SNV
Germline

Chr13:32338854

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387781575

rs_2072505831

2 SubmittersRCV001049507 RCV003158355

NM_000059.4(BRCA2):c.4574A>T (p.His1525Leu)

SNV
Germline

Chr13:32338929

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2
not specified

Criteria Provided
Conflicting Classifications

CA387781880

rs_397507336

7 SubmittersRCV001040512 RCV001524520 RCV001776098 RCV004004732 RCV006265540

NM_000059.4(BRCA2):c.4584C>A (p.Ser1528Arg)

SNV
Germline

Chr13:32338939

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387781912

rs_80359788

2 SubmittersRCV001039919 RCV003158306

NM_000059.4(BRCA2):c.4586G>A (p.Gly1529Glu)

SNV
Germline

Chr13:32338941

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387781922

rs_2072508418

2 SubmittersRCV001047042 RCV003158337

NM_000059.4(BRCA2):c.4645A>G (p.Lys1549Glu)

SNV
Germline

Chr13:32339000

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387782166

rs_2072509841

3 SubmittersRCV001037491 RCV002337098

NM_000059.4(BRCA2):c.4651C>G (p.Gln1551Glu)

SNV
Germline

Chr13:32339006

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387782192

rs_876661062

3 SubmittersRCV001063661 RCV002339317

NM_000059.4(BRCA2):c.4688G>C (p.Trp1563Ser)

SNV
Germline

Chr13:32339043

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387782847

rs_864622546

2 SubmittersRCV001064296 RCV003158398

NM_000059.4(BRCA2):c.4707C>G (p.Tyr1569Ter)

SNV
Germline

Chr13:32339062

Pathogenic

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA387782921

rs_878853585

2 SubmittersRCV001071210 RCV002339348

NM_000059.4(BRCA2):c.4715C>G (p.Ala1572Gly)

SNV
Germline

Chr13:32339070

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA387782956

rs_2072511378

4 SubmittersRCV001042578 RCV002339212 RCV006261290

NM_000059.4(BRCA2):c.4745C>T (p.Thr1582Ile)

SNV
Germline

Chr13:32339100

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6940810

rs_746821851

4 SubmittersRCV001039927 RCV003158307 RCV006556958

NM_000059.4(BRCA2):c.4750G>C (p.Glu1584Gln)

SNV
Germline

Chr13:32339105

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA247508355

rs_745632282

2 SubmittersRCV001047796 RCV003158343

NM_000059.4(BRCA2):c.4800T>G (p.Asn1600Lys)

SNV
Germline

Chr13:32339155

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387783256

rs_2072513080

2 SubmittersRCV001070307 RCV003158417

NM_000059.4(BRCA2):c.4852G>A (p.Asp1618Asn)

SNV
Germline

Chr13:32339207

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387783390

rs_2072514226

4 SubmittersRCV001053525 RCV001800946 RCV003158367

NM_000059.4(BRCA2):c.4883A>G (p.Lys1628Arg)

SNV
Germline

Chr13:32339238

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387783499

rs_2072514952

3 SubmittersRCV001049917 RCV003158356

NM_000059.4(BRCA2):c.4899C>G (p.Ile1633Met)

SNV
Germline

Chr13:32339254

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA247508612

rs_1028371302

3 SubmittersRCV001067292 RCV003158407

NM_000059.4(BRCA2):c.4936G>C (p.Glu1646Gln)

SNV
Germline

Chr13:32339291

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387783693

rs_886038111

2 SubmittersRCV001071202 RCV003158422

NM_000059.4(BRCA2):c.5054C>T (p.Ser1685Leu)

SNV
Germline

Chr13:32339409

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA387784028

rs_398122791

5 SubmittersRCV001034946 RCV003158289 RCV004004685

NM_000059.4(BRCA2):c.5065G>A (p.Ala1689Thr)

SNV
Germline

Chr13:32339420

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA6940844

rs_767200163

3 SubmittersRCV001050538 RCV002339254

NM_000059.4(BRCA2):c.5083G>T (p.Glu1695Ter)

SNV
Germline

Chr13:32339438

Pathogenic/Likely pathogenic

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA387784084

rs_938190132

3 SubmittersRCV001036686 RCV002337091 RCV003461433

NM_000059.4(BRCA2):c.5139T>A (p.Asn1713Lys)

SNV
Germline

Chr13:32339494

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387784194

rs_2072521292

2 SubmittersRCV001044251 RCV003158326

NM_000059.4(BRCA2):c.5164A>C (p.Ser1722Arg)

SNV
Germline

Chr13:32339519

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387784249

rs_80358741

2 SubmittersRCV001042910 RCV003158319

NM_000059.4(BRCA2):c.5180A>G (p.Asn1727Ser)

SNV
Germline

Chr13:32339535

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387784552

rs_2072522543

2 SubmittersRCV001062352 RCV003158391

NM_000059.4(BRCA2):c.5201A>T (p.Glu1734Val)

SNV
Germline

Chr13:32339556

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387784593

rs_1200008651

4 SubmittersRCV001065373 RCV001181459

NM_000059.4(BRCA2):c.5309C>G (p.Ser1770Cys)

SNV
Germline

Chr13:32339664

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA387784859

rs_2072526480

3 SubmittersRCV001055039 RCV003158369 RCV005861196

NM_000059.4(BRCA2):c.5435A>T (p.Glu1812Val)

SNV
Germline

Chr13:32339790

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387785507

rs_2072529304

2 SubmittersRCV001071882 RCV003158425

NM_000059.4(BRCA2):c.5476G>C (p.Ala1826Pro)

SNV
Germline

Chr13:32339831

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387785698

rs_2072530360

2 SubmittersRCV001053218 RCV003158365

NM_000059.4(BRCA2):c.5486T>C (p.Leu1829Ser)

SNV
Germline

Chr13:32339841

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387785739

rs_2072530512

3 SubmittersRCV001060580 RCV002348439

NM_000059.4(BRCA2):c.5512G>T (p.Glu1838Ter)

SNV
Germline

Chr13:32339867

Pathogenic

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA387785843

rs_2072531117

2 SubmittersRCV001066367 RCV005782084

NM_000059.4(BRCA2):c.5566C>T (p.His1856Tyr)

SNV
Germline

Chr13:32339921

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
not specified
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA6940886

rs_755791142

6 SubmittersRCV001043657 RCV001819757 RCV003158324 RCV004004763

NM_000059.4(BRCA2):c.5617G>T (p.Val1873Leu)

SNV
Germline

Chr13:32339972

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387786100

rs_2072533593

2 SubmittersRCV001041217 RCV003158312

NM_000059.4(BRCA2):c.5702A>G (p.Glu1901Gly)

SNV
Germline

Chr13:32340057

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387786732

rs_773600818

2 SubmittersRCV001048085 RCV003158344

NM_000059.4(BRCA2):c.5741G>T (p.Ser1914Ile)

SNV
Germline

Chr13:32340096

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387786970

rs_80358801

3 SubmittersRCV001051485 RCV003158361

NM_000059.4(BRCA2):c.5796T>G (p.His1932Gln)

SNV
Germline

Chr13:32340151

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387787195

rs_786203515

3 SubmittersRCV001042249 RCV003158317

NM_000059.4(BRCA2):c.5836T>G (p.Ser1946Ala)

SNV
Germline

Chr13:32340191

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387787344

rs_80358811

3 SubmittersRCV001052809 RCV003158364

NM_000059.4(BRCA2):c.5998T>C (p.Phe2000Leu)

SNV
Germline

Chr13:32340353

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387787670

rs_730881541

2 SubmittersRCV001045630 RCV003158332

NM_000059.4(BRCA2):c.6020C>T (p.Thr2007Ile)

SNV
Germline

Chr13:32340375

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Malignant tumor of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387787749

rs_397507363

3 SubmittersRCV001040701 RCV001356070 RCV003158311

NM_000059.4(BRCA2):c.6076A>C (p.Thr2026Pro)

SNV
Germline

Chr13:32340431

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified

Criteria Provided
Conflicting Classifications

CA387787990

rs_587782249

4 SubmittersRCV001066255 RCV002355083 RCV002509607

NM_000059.4(BRCA2):c.6085G>A (p.Glu2029Lys)

SNV
Germline

Chr13:32340440

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387788031

rs_397507828

3 SubmittersRCV001035558 RCV003158292

NM_000059.4(BRCA2):c.6101G>C (p.Arg2034Pro)

SNV
Germline

Chr13:32340456

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387788094

rs_80358849

2 SubmittersRCV001042259 RCV003158318

NM_000059.4(BRCA2):c.6104C>T (p.Thr2035Ile)

SNV
Germline

Chr13:32340459

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387788105

rs_2072546585

2 SubmittersRCV001035596 RCV003158294

NM_000059.4(BRCA2):c.6137C>T (p.Ser2046Leu)

SNV
Germline

Chr13:32340492

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387788231

rs_2072547315

3 SubmittersRCV001065891 RCV003158403

NM_000059.4(BRCA2):c.6214T>C (p.Ser2072Pro)

SNV
Germline

Chr13:32340569

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387788860

rs_878853594

2 SubmittersRCV001034943 RCV003158288

NM_000059.4(BRCA2):c.6229A>T (p.Lys2077Ter)

SNV
Germline

Chr13:32340584

Pathogenic

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA387788889

rs_2072549579

2 SubmittersRCV001056984 RCV005306255

NM_000059.4(BRCA2):c.6249T>A (p.Phe2083Leu)

SNV
Germline

Chr13:32340604

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387788926

rs_2072550078

2 SubmittersRCV001066833 RCV003158406

NM_000059.4(BRCA2):c.6275T>C (p.Leu2092Pro)

SNV
Germline

Chr13:32340630

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387788979

rs_2072550918

3 SubmittersRCV001057688 RCV002355051

NM_000059.4(BRCA2):c.6279C>G (p.His2093Gln)

SNV
Germline

Chr13:32340634

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387788988

rs_1566234239

2 SubmittersRCV001048641 RCV003158348

NM_000059.4(BRCA2):c.6340C>T (p.Pro2114Ser)

SNV
Germline

Chr13:32340695

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387789104

rs_2072552879

3 SubmittersRCV001048485 RCV003158347

NM_000059.4(BRCA2):c.6421G>T (p.Gly2141Cys)

SNV
Germline

Chr13:32340776

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA247513726

rs_907252547

4 SubmittersRCV001067291 RCV002365767 RCV005411657

NM_000059.4(BRCA2):c.6442T>G (p.Ser2148Ala)

SNV
Germline

Chr13:32340797

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA387789315

rs_1314863621

5 SubmittersRCV001041355 RCV003158314 RCV003117715 RCV004803395

NM_000059.4(BRCA2):c.6553G>T (p.Ala2185Ser)

SNV
Germline

Chr13:32340908

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
not specified

Criteria Provided
Conflicting Classifications

CA387789806

rs_746070652

6 SubmittersRCV001066253 RCV001800951 RCV003158404 RCV004800684

NM_000059.4(BRCA2):c.6604G>C (p.Asp2202His)

SNV
Germline

Chr13:32340959

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA387790111

rs_2072560535

5 SubmittersRCV001044245 RCV002363591 RCV004004768 RCV005414552

NM_000059.4(BRCA2):c.6667T>A (p.Phe2223Ile)

SNV
Germline

Chr13:32341022

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387790492

rs_2072562075

2 SubmittersRCV001062299 RCV003158390

NM_000059.4(BRCA2):c.6685G>A (p.Glu2229Lys)

SNV
Germline

Chr13:32341040

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA387790577

rs_730881548

3 SubmittersRCV001037623 RCV003158300 RCV004004711

NM_000059.4(BRCA2):c.6701T>C (p.Phe2234Ser)

SNV
Germline

Chr13:32341056

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387790638

rs_2072563010

2 SubmittersRCV001042948 RCV003158320

NM_000059.4(BRCA2):c.6851C>G (p.Ser2284Ter)

SNV
Germline

Chr13:32344567

Pathogenic

Hereditary breast ovarian cancer syndrome

Criteria Provided
Single Submitter

CA387792635

rs_2072597446

1 SubmittersRCV001050383

NM_000059.4(BRCA2):c.7433T>G (p.Leu2478Ter)

SNV
Germline

Chr13:32355286

Pathogenic

Hereditary breast ovarian cancer syndrome

Criteria Provided
Single Submitter

CA387742125

rs_2072685323

1 SubmittersRCV001046085

NM_000059.4(BRCA2):c.7465G>T (p.Asp2489Tyr)

SNV
Germline

Chr13:32356457

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387743174

rs_1422201756

2 SubmittersRCV001055253 RCV005520400

NM_000059.4(BRCA2):c.7467T>G (p.Asp2489Glu)

SNV
Germline

Chr13:32356459

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387743191

rs_1212282286

2 SubmittersRCV001052434 RCV003160406

NM_000059.4(BRCA2):c.7525A>G (p.Ser2509Gly)

SNV
Germline

Chr13:32356517

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA387743547

rs_1555286268

3 SubmittersRCV001060288 RCV002393293 RCV003227906

NM_000059.4(BRCA2):c.7658A>G (p.Asn2553Ser)

SNV
Germline

Chr13:32357782

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387744972

rs_2072708555

2 SubmittersRCV001067643 RCV002393327

NM_000059.4(BRCA2):c.7726G>A (p.Gly2576Arg)

SNV
Germline

Chr13:32357850

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA387745484

rs_1210418849

6 SubmittersRCV001069285 RCV001190008 RCV004697041 RCV004000183

NM_000059.4(BRCA2):c.8141A>C (p.Gln2714Pro)

SNV
Germline

Chr13:32363343

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Breast and/or ovarian cancer

Criteria Provided
Conflicting Classifications

CA387749477

rs_80359059

4 SubmittersRCV001071774 RCV002418569 RCV004000207 RCV003492218

NM_000059.4(BRCA2):c.8152A>G (p.Ile2718Val)

SNV
Germline

Chr13:32363354

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Familial prostate cancer

Criteria Provided
Conflicting Classifications

CA387749521

rs_2072757385

4 SubmittersRCV001059632 RCV001185520 RCV005359828

NM_000059.4(BRCA2):c.8320C>G (p.Leu2774Val)

SNV
Germline

Chr13:32363522

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387750254

rs_2072761310

2 SubmittersRCV001058865 RCV005532836

NM_000059.4(BRCA2):c.8474C>A (p.Ala2825Glu)

SNV
Germline

Chr13:32370544

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387752626

rs_2072823455

3 SubmittersRCV001069740 RCV003478687 RCV004030724

NM_000059.4(BRCA2):c.8545A>C (p.Lys2849Gln)

SNV
Germline

Chr13:32371013

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387752766

rs_80359109

2 SubmittersRCV001069912 RCV003283956

NM_000059.4(BRCA2):c.8582G>T (p.Arg2861Ile)

SNV
Germline

Chr13:32371050

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified

Criteria Provided
Conflicting Classifications

CA387752842

rs_1225373762

3 SubmittersRCV001068975 RCV002445358 RCV004689981

NM_000059.4(BRCA2):c.8740C>A (p.Pro2914Thr)

SNV
Germline

Chr13:32376777

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387755037

rs_876660226

2 SubmittersRCV001037826 RCV003160231

NM_000059.4(BRCA2):c.8743G>A (p.Ala2915Thr)

SNV
Germline

Chr13:32376780

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387755050

rs_2072876301

2 SubmittersRCV001037970 RCV002445219

NM_000059.4(BRCA2):c.8854A>T (p.Met2952Leu)

SNV
Germline

Chr13:32379416

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387756299

rs_397508016

3 SubmittersRCV001045362 RCV001776101 RCV005532821

NM_000059.4(BRCA2):c.8870A>G (p.Gln2957Arg)

SNV
Germline

Chr13:32379432

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA6941306

rs_763943647

4 SubmittersRCV001070819 RCV001800954 RCV002374998

NM_000059.4(BRCA2):c.8878C>A (p.Gln2960Lys)

SNV
Germline

Chr13:32379440

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
not specified
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387756428

rs_80359140

3 SubmittersRCV001071936 RCV001806018 RCV002375006

NM_000059.4(BRCA2):c.9166C>T (p.His3056Tyr)

SNV
Germline

Chr13:32380055

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387757982

rs_1420447960

2 SubmittersRCV001040262 RCV004031133

NM_000059.4(BRCA2):c.10199G>A (p.Ser3400Asn)

SNV
Germline

Chr13:32398712

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA6941480

rs_763642189

3 SubmittersRCV001042904 RCV004601335

NM_007294.4(BRCA1):c.5551G>A (p.Asp1851Asn)

SNV
Germline

Chr17:43045719

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Fanconi anemia, complementation group S

Criteria Provided
Conflicting Classifications

CA10590220

rs_2050862880

4 SubmittersRCV001058495 RCV001076394 RCV005359826

NM_007294.4(BRCA1):c.5509T>A (p.Trp1837Arg)

SNV
Germline

Chr17:43045761

Pathogenic/Likely pathogenic

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA10590297

rs_80356959

3 SubmittersRCV001058297 RCV001077537 RCV004697038

NM_007294.4(BRCA1):c.5479A>G (p.Met1827Val)

SNV
Germline

Chr17:43045791

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA055189

rs_771606902

5 SubmittersRCV001047143 RCV001072218 RCV002348376

NM_007294.4(BRCA1):c.5416C>T (p.Pro1806Ser)

SNV
Germline

Chr17:43047694

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10590624

rs_80357241

3 SubmittersRCV001034823 RCV001076899 RCV002346238

NM_007294.4(BRCA1):c.5311C>T (p.Pro1771Ser)

SNV
Germline

Chr17:43051084

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10590927

rs_576727185

3 SubmittersRCV001066378 RCV001077176 RCV002348461

NM_007294.4(BRCA1):c.5227G>T (p.Gly1743Ter)

SNV
Germline

Chr17:43057102

Pathogenic

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Single Submitter

CA10591088

rs_2051517323

2 SubmittersRCV001051852 RCV001075900

NM_007294.4(BRCA1):c.5213G>T (p.Gly1738Val)

SNV
Germline

Chr17:43057116

Pathogenic

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Single Submitter

CA10591112

rs_80357450

2 SubmittersRCV001048610 RCV001072530

NM_007294.4(BRCA1):c.4950G>A (p.Met1650Ile)

SNV
Germline

Chr17:43070964

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10591623

rs_2052366574

3 SubmittersRCV001054195 RCV001072875 RCV004950188

NM_007294.4(BRCA1):c.4069G>C (p.Glu1357Gln)

SNV
Germline

Chr17:43091462

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10593821

rs_886040195

2 SubmittersRCV001040049 RCV003158309

NM_007294.4(BRCA1):c.3852C>A (p.His1284Gln)

SNV
Germline

Chr17:43091679

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast and/or ovarian cancer
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA10594260

rs_776070899

6 SubmittersRCV001071209 RCV001799039 RCV003158423 RCV003229614

NM_007294.4(BRCA1):c.3842A>G (p.Gln1281Arg)

SNV
Germline

Chr17:43091689

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10594283

rs_80357483

2 SubmittersRCV001056649 RCV003158373

NM_007294.4(BRCA1):c.3824T>A (p.Ile1275Lys)

SNV
Germline

Chr17:43091707

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Familial pancreatic carcinoma

Criteria Provided
Conflicting Classifications

CA10594319

rs_2053516476

3 SubmittersRCV001063425 RCV003158395 RCV005359837

NM_007294.4(BRCA1):c.3820G>C (p.Val1274Leu)

SNV
Germline

Chr17:43091711

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10594326

rs_2053517601

2 SubmittersRCV001067862 RCV003158409

NM_007294.4(BRCA1):c.3819G>C (p.Gln1273His)

SNV
Germline

Chr17:43091712

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA10594329

rs_1293826790

3 SubmittersRCV001058044 RCV003158377 RCV004000095

NM_007294.4(BRCA1):c.3818A>T (p.Gln1273Leu)

SNV
Germline

Chr17:43091713

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10594330

rs_431825400

5 SubmittersRCV001045445 RCV003158331 RCV004004777 RCV004773254

NM_007294.4(BRCA1):c.3740T>C (p.Val1247Ala)

SNV
Germline

Chr17:43091791

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10594487

rs_2053534509

5 SubmittersRCV001036312 RCV003158297 RCV004721715

NM_007294.4(BRCA1):c.3686T>A (p.Leu1229Ter)

SNV
Germline

Chr17:43091845

Pathogenic

Hereditary breast ovarian cancer syndrome

Criteria Provided
Single Submitter

CA10594593

rs_2053543910

1 SubmittersRCV001046226

NM_007294.4(BRCA1):c.3542T>G (p.Val1181Gly)

SNV
Germline

Chr17:43091989

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10594881

rs_80357032

2 SubmittersRCV001050873 RCV003158360

NM_007294.4(BRCA1):c.3540C>G (p.Ser1180Arg)

SNV
Germline

Chr17:43091991

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10594885

rs_928545955

2 SubmittersRCV001049226 RCV003158353

NM_007294.4(BRCA1):c.3518G>T (p.Ser1173Ile)

SNV
Germline

Chr17:43092013

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10594934

rs_746949187

3 SubmittersRCV001070904 RCV003158420

NM_007294.4(BRCA1):c.3419G>A (p.Ser1140Asn)

SNV
Germline

Chr17:43092112

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10595144

rs_2053590016

2 SubmittersRCV001057074 RCV003158376

NM_007294.4(BRCA1):c.3280T>G (p.Tyr1094Asp)

SNV
Germline

Chr17:43092251

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10595429

rs_1555588026

3 SubmittersRCV001060345 RCV003158383

NM_007294.4(BRCA1):c.3272C>T (p.Pro1091Leu)

SNV
Germline

Chr17:43092259

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10595442

rs_2053616216

4 SubmittersRCV001036731 RCV001805980

NM_007294.4(BRCA1):c.3148A>G (p.Ser1050Gly)

SNV
Germline

Chr17:43092383

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10595687

rs_2053635674

2 SubmittersRCV001068758 RCV003158413

NM_007294.4(BRCA1):c.3131T>G (p.Ile1044Ser)

SNV
Germline

Chr17:43092400

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10595721

rs_2053637993

2 SubmittersRCV001064351 RCV003158399

NM_007294.4(BRCA1):c.3035G>C (p.Arg1012Thr)

SNV
Germline

Chr17:43092496

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10595923

rs_876658464

3 SubmittersRCV001047117 RCV002436576

NM_007294.4(BRCA1):c.3032A>G (p.Glu1011Gly)

SNV
Germline

Chr17:43092499

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10595929

rs_2053652997

2 SubmittersRCV001036605 RCV003158298

NM_007294.4(BRCA1):c.2902C>T (p.Pro968Ser)

SNV
Germline

Chr17:43092629

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified

Criteria Provided
Conflicting Classifications

CA10596188

rs_1182090591

5 SubmittersRCV001062516 RCV001524483 RCV003493790

NM_007294.4(BRCA1):c.2893C>T (p.Leu965Phe)

SNV
Germline

Chr17:43092638

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10596204

rs_1060502344

6 SubmittersRCV001063596 RCV001192250 RCV002240501 RCV006261316

NM_007294.4(BRCA1):c.2768T>C (p.Val923Ala)

SNV
Germline

Chr17:43092763

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10596456

rs_2053698662

2 SubmittersRCV001068347 RCV003158412

NM_007294.4(BRCA1):c.2599C>G (p.Gln867Glu)

SNV
Germline

Chr17:43092932

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Fanconi anemia, complementation group S
Pancreatic cancer, susceptibility to, 4

Criteria Provided
Conflicting Classifications

CA10596796

rs_886038001

3 SubmittersRCV001069056 RCV003158415 RCV005021419

NM_007294.4(BRCA1):c.2585A>G (p.Lys862Arg)

SNV
Germline

Chr17:43092946

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10596820

rs_2053734181

3 SubmittersRCV001048939 RCV003158351

NM_007294.4(BRCA1):c.2569T>A (p.Leu857Met)

SNV
Germline

Chr17:43092962

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10596856

rs_779895958

3 SubmittersRCV001063453 RCV003158396

NM_007294.4(BRCA1):c.2498T>A (p.Leu833Ter)

SNV
Germline

Chr17:43093033

Pathogenic

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA10597003

rs_2053749811

4 SubmittersRCV001040112 RCV001524443 RCV004726814

NM_007294.4(BRCA1):c.2477C>T (p.Thr826Ile)

SNV
Germline

Chr17:43093054

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10597047

rs_28897683

2 SubmittersRCV001046530 RCV003158336

NM_007294.4(BRCA1):c.2435A>G (p.Lys812Arg)

SNV
Germline

Chr17:43093096

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10597139

rs_2053760679

4 SubmittersRCV001048451 RCV002258104

NM_007294.4(BRCA1):c.2375G>A (p.Gly792Glu)

SNV
Germline

Chr17:43093156

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10597260

rs_2053771901

2 SubmittersRCV001044842 RCV003158327

NM_007294.4(BRCA1):c.2365A>G (p.Ser789Gly)

SNV
Germline

Chr17:43093166

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10597279

rs_2053773104

4 SubmittersRCV001048100 RCV003158345 RCV004998604

NM_007294.4(BRCA1):c.2351C>G (p.Ser784Trp)

SNV
Germline

Chr17:43093180

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10597304

rs_55914168

4 SubmittersRCV001062433 RCV001760028 RCV003158393

NM_007294.4(BRCA1):c.2274G>T (p.Leu758Phe)

SNV
Germline

Chr17:43093257

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10597451

rs_876660823

2 SubmittersRCV001060009 RCV003158381

NM_007294.4(BRCA1):c.2125T>G (p.Phe709Val)

SNV
Germline

Chr17:43093406

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10597755

rs_2053822369

2 SubmittersRCV001047725 RCV003158341

NM_007294.4(BRCA1):c.2087C>T (p.Thr696Ile)

SNV
Germline

Chr17:43093444

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10597826

rs_1334969117

2 SubmittersRCV001068252 RCV003158411

NM_007294.4(BRCA1):c.2036A>C (p.Lys679Thr)

SNV
Germline

Chr17:43093495

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10597939

rs_2053838870

4 SubmittersRCV001040400 RCV003158310 RCV004998592

NM_007294.4(BRCA1):c.1905T>G (p.Asn635Lys)

SNV
Germline

Chr17:43093626

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10598214

rs_369373293

3 SubmittersRCV001053866 RCV002409448

NM_007294.4(BRCA1):c.1885A>G (p.Arg629Gly)

SNV
Germline

Chr17:43093646

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10598252

rs_1555590987

2 SubmittersRCV001042978 RCV003158322

NM_007294.4(BRCA1):c.1787T>C (p.Leu596Pro)

SNV
Germline

Chr17:43093744

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10598445

rs_2053883873

3 SubmittersRCV001049754 RCV002409427

NM_007294.4(BRCA1):c.1761A>G (p.Ile587Met)

SNV
Germline

Chr17:43093770

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10598506

rs_1057523389

2 SubmittersRCV001058665 RCV003158379

NM_007294.4(BRCA1):c.1729G>C (p.Glu577Gln)

SNV
Germline

Chr17:43093802

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA057471

rs_397508903

4 SubmittersRCV001066382 RCV003158405

NM_007294.4(BRCA1):c.1696A>C (p.Lys566Gln)

SNV
Germline

Chr17:43093835

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10598637

rs_1597874665

2 SubmittersRCV001046377 RCV003158335

NM_007294.4(BRCA1):c.1568T>A (p.Leu523Ter)

SNV
Germline

Chr17:43093963

Pathogenic

Hereditary breast ovarian cancer syndrome

Criteria Provided
Single Submitter

CA10598909

rs_397508885

1 SubmittersRCV001050826

NM_007294.4(BRCA1):c.1495A>C (p.Thr499Pro)

SNV
Germline

Chr17:43094036

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10599058

rs_2053931342

2 SubmittersRCV001050167 RCV003158359

NM_007294.4(BRCA1):c.1477A>C (p.Ile493Leu)

SNV
Germline

Chr17:43094054

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10599095

rs_2053933371

3 SubmittersRCV002393303 RCV001062021

NM_007294.4(BRCA1):c.1441C>A (p.Leu481Ile)

SNV
Germline

Chr17:43094090

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10599159

rs_1397842308

4 SubmittersRCV001061735 RCV002286807 RCV003158387

NM_007294.4(BRCA1):c.1408A>G (p.Ser470Gly)

SNV
Germline

Chr17:43094123

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10599233

rs_2053942184

3 SubmittersRCV001049443 RCV003158354 RCV004777943

NM_007294.4(BRCA1):c.1379T>C (p.Ile460Thr)

SNV
Germline

Chr17:43094152

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10599284

rs_398122634

3 SubmittersRCV001045787 RCV003158333 RCV003238285

NM_007294.4(BRCA1):c.1316C>G (p.Ala439Gly)

SNV
Germline

Chr17:43094215

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA057156

rs_777132211

3 SubmittersRCV001069716 RCV002379617

NM_007294.4(BRCA1):c.1300A>C (p.Ser434Arg)

SNV
Germline

Chr17:43094231

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10599456

rs_786203753

2 SubmittersRCV001039220 RCV003158304

NM_007294.4(BRCA1):c.1289A>G (p.Asp430Gly)

SNV
Germline

Chr17:43094242

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10599476

rs_2053963023

4 SubmittersRCV001058777 RCV002379575 RCV004773275

NM_007294.4(BRCA1):c.1258G>C (p.Asp420His)

SNV
Germline

Chr17:43094273

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10599538

rs_80357488

3 SubmittersRCV001043690 RCV002429598

NM_007294.4(BRCA1):c.1206G>C (p.Glu402Asp)

SNV
Germline

Chr17:43094325

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10599639

rs_1283231905

2 SubmittersRCV001048811 RCV003158350

NM_007294.4(BRCA1):c.1147A>C (p.Asn383His)

SNV
Germline

Chr17:43094384

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10599764

rs_2053985160

2 SubmittersRCV001045041 RCV003158328

NM_007294.4(BRCA1):c.1069A>T (p.Lys357Ter)

SNV
Germline

Chr17:43094462

Pathogenic

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA10599919

rs_2053998767

2 SubmittersRCV001052426 RCV005520395

NM_007294.4(BRCA1):c.1069A>G (p.Lys357Glu)

SNV
Germline

Chr17:43094462

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10599920

rs_2053998767

2 SubmittersRCV001060262 RCV003158382

NM_007294.4(BRCA1):c.885C>G (p.Asp295Glu)

SNV
Germline

Chr17:43094646

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10600304

rs_1060504557

2 SubmittersRCV001048743 RCV003158349

NM_007294.4(BRCA1):c.866G>C (p.Ser289Thr)

SNV
Germline

Chr17:43094665

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10600346

rs_776999497

2 SubmittersRCV001053515 RCV003158366

NM_007294.4(BRCA1):c.839C>A (p.Ala280Asp)

SNV
Germline

Chr17:43094692

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10600405

rs_80357199

2 SubmittersRCV001045361 RCV003158330

NM_007294.4(BRCA1):c.820T>C (p.Cys274Arg)

SNV
Germline

Chr17:43094711

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10600442

rs_755285181

4 SubmittersRCV001043878 RCV001525555

NM_007294.4(BRCA1):c.808C>T (p.His270Tyr)

SNV
Germline

Chr17:43094723

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10600464

rs_2054044790

3 SubmittersRCV001045888 RCV003158334

NM_007294.4(BRCA1):c.779A>G (p.Lys260Arg)

SNV
Germline

Chr17:43094752

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10600522

rs_2054049431

3 SubmittersRCV001052703 RCV002409439

NM_007294.4(BRCA1):c.778A>T (p.Lys260Ter)

SNV
Germline

Chr17:43094753

Pathogenic

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA10600524

rs_786202263

2 SubmittersRCV001054485 RCV002409452

NM_007294.4(BRCA1):c.725G>A (p.Ser242Asn)

SNV
Germline

Chr17:43094806

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10600635

rs_2054059120

2 SubmittersRCV001051863 RCV003158362

NM_007294.4(BRCA1):c.700A>G (p.Thr234Ala)

SNV
Germline

Chr17:43094831

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10600688

rs_2054062966

2 SubmittersRCV001050102 RCV003158358

NM_007294.4(BRCA1):c.538A>G (p.Ile180Val)

SNV
Germline

Chr17:43099784

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA10601066

rs_1555594803

5 SubmittersRCV001040769 RCV001509547 RCV002348351 RCV005866756

NM_007294.4(BRCA1):c.350A>T (p.His117Leu)

SNV
Germline

Chr17:43104213

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
BRCA1-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA10601444

rs_2054632888

4 SubmittersRCV001065043 RCV001806009 RCV004803425

NM_007294.4(BRCA1):c.77T>C (p.Ile26Thr)

SNV
Germline

Chr17:43124020

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA10602004

rs_879255496

3 SubmittersRCV001061570 RCV001076506

NM_000059.4(BRCA2):c.7806-1G>C

SNV
Germline

Chr13:32362522

Pathogenic/Likely pathogenic

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA387746915

rs_81002860

3 SubmittersRCV001055024 RCV002409457

NM_007294.4(BRCA1):c.212+3A>T

SNV
Germline

Chr17:43106453

Likely pathogenic

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Single Submitter

CA916080879

rs_80358083

2 SubmittersRCV001044820 RCV001072652

NM_000059.4(BRCA2):c.475+6A>G

SNV
Germline

Chr13:32326156

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA916080529

rs_2072344881

2 SubmittersRCV001071899 RCV001188571

NM_000059.4(BRCA2):c.7805+2T>C

SNV
Germline

Chr13:32357931

Pathogenic/Likely pathogenic

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Multiple Submitters
No Conflicts

CA387746189

rs_886040941

2 SubmittersRCV001045776 RCV005601664

NM_007294.4(BRCA1):c.5557T>C (p.Tyr1853His)

SNV
Germline

Chr17:43045713

Likely pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome

Criteria Provided
Single Submitter

CA10590208

rs_2050860958

2 SubmittersRCV001072340 RCV001862798

NM_007294.4(BRCA1):c.5541C>G (p.Cys1847Trp)

SNV
Germline

Chr17:43045729

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA055273

rs_397509295

3 SubmittersRCV001077576 RCV002554792

NM_007294.4(BRCA1):c.5524G>A (p.Val1842Ile)

SNV
Germline

Chr17:43045746

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10590271

rs_1296005499

3 SubmittersRCV001078028 RCV002348543 RCV002555931

NM_007294.4(BRCA1):c.5523T>G (p.Ser1841Arg)

SNV
Germline

Chr17:43045747

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome

Criteria Provided
Single Submitter

CA10590272

rs_878854960

2 SubmittersRCV001078027 RCV003645194

NM_007294.4(BRCA1):c.5522G>T (p.Ser1841Ile)

SNV
Germline

Chr17:43045748

Likely pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Inherited breast cancer and ovarian cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA10590274

rs_80357368

3 SubmittersRCV001078025 RCV002555930 RCV006276095

NM_007294.4(BRCA1):c.5503C>G (p.Arg1835Gly)

SNV
Germline

Chr17:43045767

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10590305

rs_41293465

3 SubmittersRCV001072247 RCV001862475

NM_007294.4(BRCA1):c.5484T>A (p.Cys1828Ter)

SNV
Germline

Chr17:43045786

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome

Criteria Provided
Single Submitter

CA10590344

rs_2050885130

2 SubmittersRCV001077507 RCV003530167

NM_007294.4(BRCA1):c.5476C>T (p.Gln1826Ter)

SNV
Germline

Chr17:43045794

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA10590373

rs_587782887

4 SubmittersRCV001077978 RCV001181150 RCV001844266 RCV004702632

NM_007294.4(BRCA1):c.5471T>C (p.Ile1824Thr)

SNV
Germline

Chr17:43045799

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10590396

rs_1301025671

5 SubmittersRCV001076292 RCV001359463 RCV003329378 RCV004609620

NM_007294.4(BRCA1):c.5465A>G (p.His1822Arg)

SNV
Germline

Chr17:43047645

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10590426

rs_2050976068

3 SubmittersRCV001077438 RCV002348533 RCV002554790

NM_007294.4(BRCA1):c.5449G>C (p.Glu1817Gln)

SNV
Germline

Chr17:43047661

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10590499

rs_80356868

3 SubmittersRCV001076076 RCV005520422 RCV006612594

NM_007294.4(BRCA1):c.5447C>T (p.Thr1816Ile)

SNV
Germline

Chr17:43047663

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10590504

rs_1567757864

3 SubmittersRCV001077897 RCV001228954 RCV004601370

NM_007294.4(BRCA1):c.5437G>A (p.Asp1813Asn)

SNV
Germline

Chr17:43047673

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10590553

rs_1303996018

3 SubmittersRCV001072939 RCV002348502 RCV003530151

NM_007294.4(BRCA1):c.5431C>A (p.Gln1811Lys)

SNV
Germline

Chr17:43047679

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Inherited breast cancer and ovarian cancer

Criteria Provided
Conflicting Classifications

CA10590573

rs_397509283

4 SubmittersRCV001072922 RCV005622063 RCV006450866

NM_007294.4(BRCA1):c.5428G>A (p.Val1810Met)

SNV
Germline

Chr17:43047682

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10590583

rs_2050988927

3 SubmittersRCV001076062 RCV001367487 RCV003339465

NM_007294.4(BRCA1):c.5420T>C (p.Ile1807Thr)

SNV
Germline

Chr17:43047690

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Ovarian cancer
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10590611

rs_2050991229

3 SubmittersRCV001077387 RCV003153928 RCV003530166

NM_007294.4(BRCA1):c.5417C>T (p.Pro1806Leu)

SNV
Germline

Chr17:43047693

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10590621

rs_2050992362

4 SubmittersRCV001076902 RCV001227473 RCV005306283

NM_007294.4(BRCA1):c.5410G>A (p.Val1804Ile)

SNV
Germline

Chr17:43047700

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10590648

rs_2050994882

3 SubmittersRCV001077372 RCV001325729 RCV006372074

NM_007294.4(BRCA1):c.5406A>G (p.Thr1802=)

SNV
Germline

Chr17:43049121

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA500143273

rs_879255493

4 SubmittersRCV001076875 RCV005318615 RCV006612600

NM_007294.4(BRCA1):c.5405C>T (p.Thr1802Ile)

SNV
Germline

Chr17:43049122

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10590666

rs_2051072173

4 SubmittersRCV001076874 RCV001862643 RCV002348518

NM_007294.4(BRCA1):c.5398C>T (p.Leu1800Phe)

SNV
Germline

Chr17:43049129

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10590679

rs_2051074344

3 SubmittersRCV001072836 RCV002348500 RCV003645161

NM_007294.4(BRCA1):c.5386T>C (p.Ser1796Pro)

SNV
Germline

Chr17:43049141

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10590702

rs_2051078701

4 SubmittersRCV001077301 RCV002348526 RCV002554788

NM_007294.4(BRCA1):c.5380G>A (p.Glu1794Lys)

SNV
Germline

Chr17:43049147

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
BRCA1-related disorder

Criteria Provided
Conflicting Classifications

CA054791

rs_776323117

8 SubmittersRCV001073143 RCV001254349 RCV002348505 RCV004554847

NM_007294.4(BRCA1):c.5366C>A (p.Ala1789Asp)

SNV
Germline

Chr17:43049161

Likely pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome

Criteria Provided
Single Submitter

CA10590737

rs_2051085308

2 SubmittersRCV001077272 RCV003645182

NM_007294.4(BRCA1):c.5359T>C (p.Cys1787Arg)

SNV
Germline

Chr17:43049168

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10590748

rs_80357065

4 SubmittersRCV001073115 RCV001359204 RCV005232116

NM_007294.4(BRCA1):c.5297T>C (p.Ile1766Thr)

SNV
Germline

Chr17:43051098

Likely pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome

Criteria Provided
Single Submitter

CA10590954

rs_80357463

2 SubmittersRCV001076764 RCV003645176

NM_007294.4(BRCA1):c.5259A>C (p.Arg1753Ser)

SNV
Germline

Chr17:43057070

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome

Criteria Provided
Single Submitter

CA10591037

rs_771577266

2 SubmittersRCV001072584 RCV003645160

NM_007294.4(BRCA1):c.5249A>G (p.Lys1750Arg)

SNV
Germline

Chr17:43057080

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10591049

rs_2051506626

3 SubmittersRCV001075928 RCV002348506 RCV003645165

NM_007294.4(BRCA1):c.5248A>T (p.Lys1750Ter)

SNV
Germline

Chr17:43057081

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome

Criteria Provided
Single Submitter

CA10591051

rs_2051507325

2 SubmittersRCV001072570 RCV001234372

NM_007294.4(BRCA1):c.5239C>G (p.Gln1747Glu)

SNV
Germline

Chr17:43057090

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10591063

rs_80357367

3 SubmittersRCV001075916 RCV001360831

NM_007294.4(BRCA1):c.5228G>A (p.Gly1743Glu)

SNV
Germline

Chr17:43057101

Likely pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA10591087

rs_1346819781

3 SubmittersRCV001075901 RCV003483779

NM_007294.4(BRCA1):c.5227G>A (p.Gly1743Arg)

SNV
Germline

Chr17:43057102

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10591090

rs_2051517323

3 SubmittersRCV001072545 RCV003645159

NM_007294.4(BRCA1):c.5206G>T (p.Val1736Phe)

SNV
Germline

Chr17:43057123

Likely pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA10591122

rs_377595653

3 SubmittersRCV001076623 RCV002307681 RCV006372071

NM_007294.4(BRCA1):c.5204A>G (p.Glu1735Gly)

SNV
Germline

Chr17:43057125

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10591127

rs_2051527499

3 SubmittersRCV001076214 RCV003645168 RCV004950274

NM_007294.4(BRCA1):c.5183T>C (p.Met1728Thr)

SNV
Germline

Chr17:43063343

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10591176

rs_2051858178

3 SubmittersRCV001076547 RCV002557932

NM_007294.4(BRCA1):c.5162A>C (p.Gln1721Pro)

SNV
Germline

Chr17:43063364

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10591222

rs_2051867806

4 SubmittersRCV001076517 RCV001254333 RCV003584827

NM_007294.4(BRCA1):c.5123C>G (p.Ala1708Gly)

SNV
Germline

Chr17:43063903

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10591290

rs_28897696

4 SubmittersRCV001076417 RCV001862642 RCV005318612

NM_007294.4(BRCA1):c.5117G>T (p.Gly1706Val)

SNV
Germline

Chr17:43063909

Likely pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome

Criteria Provided
Single Submitter

CA10591300

rs_80356860

2 SubmittersRCV001077616 RCV001308653

NM_007294.4(BRCA1):c.5111T>C (p.Phe1704Ser)

SNV
Germline

Chr17:43063915

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10591307

rs_1555578598

3 SubmittersRCV001072272 RCV001314841

NM_007294.4(BRCA1):c.5110T>A (p.Phe1704Ile)

SNV
Germline

Chr17:43063916

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10591311

rs_1555578599

4 SubmittersRCV001072268 RCV001772309 RCV003645158 RCV005306276

NM_007294.4(BRCA1):c.5105A>T (p.Lys1702Ile)

SNV
Germline

Chr17:43063921

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10591318

rs_2051924695

4 SubmittersRCV001077592 RCV002339381 RCV003645189

NM_007294.4(BRCA1):c.5099C>T (p.Thr1700Ile)

SNV
Germline

Chr17:43063927

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10591329

rs_2051927197

3 SubmittersRCV001072251 RCV002348494 RCV005093384

NM_007294.4(BRCA1):c.5092G>T (p.Glu1698Ter)

SNV
Germline

Chr17:43063934

Likely pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Gastric cancer

Criteria Provided
Single Submitter

CA10591340

rs_2051929740

3 SubmittersRCV001077570 RCV001194430 RCV003160605

NM_007294.4(BRCA1):c.5090G>T (p.Cys1697Phe)

SNV
Germline

Chr17:43063936

Likely pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome

Criteria Provided
Single Submitter

CA10591345

rs_397507241

2 SubmittersRCV001076366 RCV001862640

NM_007294.4(BRCA1):c.5090G>C (p.Cys1697Ser)

SNV
Germline

Chr17:43063936

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10591346

rs_397507241

3 SubmittersRCV001076365 RCV002554780

NM_007294.4(BRCA1):c.5089T>G (p.Cys1697Gly)

SNV
Germline

Chr17:43063937

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10591347

rs_80356993

3 SubmittersRCV001076364 RCV002339363 RCV005093430

NM_007294.4(BRCA1):c.5083T>C (p.Phe1695Leu)

SNV
Germline

Chr17:43063943

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10591356

rs_2051934276

3 SubmittersRCV001077559 RCV001873440 RCV004950282

NM_007294.4(BRCA1):c.5076T>A (p.Asp1692Glu)

SNV
Germline

Chr17:43063950

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10591372

rs_2051937547

4 SubmittersRCV001072222 RCV005093383

NM_007294.4(BRCA1):c.5062G>T (p.Val1688Phe)

SNV
Germline

Chr17:43067620

Likely pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome

Criteria Provided
Single Submitter

CA10591395

rs_2052159968

2 SubmittersRCV001077987 RCV001254331

NM_007294.4(BRCA1):c.5056C>G (p.His1686Asp)

SNV
Germline

Chr17:43067626

Likely pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Fanconi anemia, complementation group S
Pancreatic cancer, susceptibility to, 4
Hereditary breast ovarian cancer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA10591408

rs_1555579648

5 SubmittersRCV001076298 RCV004950275 RCV005411660 RCV006612597

NM_007294.4(BRCA1):c.5034T>A (p.Asn1678Lys)

SNV
Germline

Chr17:43067648

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10591448

rs_898511378

3 SubmittersRCV001072998 RCV005093394 RCV005306278

NM_007294.4(BRCA1):c.5005G>A (p.Ala1669Thr)

SNV
Germline

Chr17:43067677

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA053663

rs_80357087

4 SubmittersRCV001077915 RCV002222197

NM_007294.4(BRCA1):c.4998C>G (p.Tyr1666Ter)

SNV
Germline

Chr17:43067684

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome

Criteria Provided
Single Submitter

CA10591524

rs_730882165

2 SubmittersRCV001076924 RCV006465318

NM_007294.4(BRCA1):c.4990C>T (p.Leu1664Phe)

SNV
Germline

Chr17:43067692

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10591536

rs_1467535423

3 SubmittersRCV001077415 RCV002339375 RCV006465323

NM_007294.4(BRCA1):c.4976C>T (p.Pro1659Leu)

SNV
Germline

Chr17:43070938

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10591573

rs_2052357390

3 SubmittersRCV001076895 RCV002554784 RCV006372072

NM_007294.4(BRCA1):c.4957G>T (p.Val1653Leu)

SNV
Germline

Chr17:43070957

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Gastric cancer
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10591609

rs_80357261

4 SubmittersRCV001077861 RCV001420879 RCV003160607 RCV003339468

NM_007294.4(BRCA1):c.4948A>G (p.Met1650Val)

SNV
Germline

Chr17:43070966

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10591627

rs_1567774493

3 SubmittersRCV001072870 RCV001862484

NM_007294.4(BRCA1):c.4940A>G (p.Asn1647Ser)

SNV
Germline

Chr17:43070974

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10591644

rs_2052370581

3 SubmittersRCV001073177 RCV004031176 RCV002298868

NM_007294.4(BRCA1):c.4935G>T (p.Arg1645Ser)

SNV
Germline

Chr17:43070979

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
not specified
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10591655

rs_80357373

5 SubmittersRCV001077844 RCV001260425 RCV003645192 RCV005520435

NM_007294.4(BRCA1):c.4925C>A (p.Ser1642Ter)

SNV
Germline

Chr17:43070989

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome

Criteria Provided
Single Submitter

CA10591672

rs_2052376303

2 SubmittersRCV001077837 RCV002307683

NM_007294.4(BRCA1):c.4919C>G (p.Thr1640Arg)

SNV
Germline

Chr17:43070995

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10591682

rs_1036328075

3 SubmittersRCV001073150 RCV006612591

NM_007294.4(BRCA1):c.4913A>G (p.Glu1638Gly)

SNV
Germline

Chr17:43071001

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10591697

rs_2052380495

3 SubmittersRCV001077297 RCV002555926 RCV004950279

NM_007294.4(BRCA1):c.4912G>A (p.Glu1638Lys)

SNV
Germline

Chr17:43071002

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10591701

rs_2052380758

3 SubmittersRCV001077293 RCV001302266 RCV002339371

NM_007294.4(BRCA1):c.4901G>A (p.Arg1634Lys)

SNV
Germline

Chr17:43071013

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10591723

rs_1489040931

4 SubmittersRCV001077278 RCV001873438 RCV005306284

NM_007294.4(BRCA1):c.300G>C (p.Glu100Asp)

SNV
Germline

Chr17:43104869

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10601554

rs_1555596638

3 SubmittersRCV001077810 RCV005782096 RCV006465325

NM_007294.4(BRCA1):c.293G>T (p.Gly98Val)

SNV
Germline

Chr17:43104876

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10601568

rs_2054671671

3 SubmittersRCV001077247 RCV001862645

NM_007294.4(BRCA1):c.292G>A (p.Gly98Ser)

SNV
Germline

Chr17:43104877

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10601572

rs_80357409

3 SubmittersRCV001073098 RCV004601363 RCV005093395

NM_007294.4(BRCA1):c.287A>T (p.Asp96Val)

SNV
Germline

Chr17:43104882

Pathogenic/Likely pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA10601579

rs_864622444

3 SubmittersRCV001077808 RCV002436697 RCV005093447

NM_007294.4(BRCA1):c.282G>C (p.Gln94His)

SNV
Germline

Chr17:43104887

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10601590

rs_1597898117

3 SubmittersRCV001073088 RCV004950269 RCV006612590

NM_007294.4(BRCA1):c.281A>G (p.Gln94Arg)

SNV
Germline

Chr17:43104888

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10601592

rs_2054675893

4 SubmittersRCV001073085 RCV001190598 RCV002557891

NM_007294.4(BRCA1):c.273T>A (p.Cys91Ter)

SNV
Germline

Chr17:43104896

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome

Criteria Provided
Single Submitter

CA10601609

rs_397509006

2 SubmittersRCV001077222 RCV001231656

NM_007294.4(BRCA1):c.256C>G (p.Leu86Val)

SNV
Germline

Chr17:43104913

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10601642

rs_2054684036

4 SubmittersRCV001072733 RCV001862481

NM_007294.4(BRCA1):c.240T>G (p.Ser80Arg)

SNV
Germline

Chr17:43104929

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10601676

rs_2054689945

3 SubmittersRCV001073039 RCV003530153 RCV004950268

NM_007294.4(BRCA1):c.239G>A (p.Ser80Asn)

SNV
Germline

Chr17:43104930

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10601680

rs_2054690270

3 SubmittersRCV001072709 RCV003283965 RCV005093392

NM_007294.4(BRCA1):c.233G>A (p.Arg78Lys)

SNV
Germline

Chr17:43104936

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10601696

rs_2054692582

3 SubmittersRCV001073027 RCV001862485 RCV003293868

NM_007294.4(BRCA1):c.229A>T (p.Thr77Ser)

SNV
Germline

Chr17:43104940

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10601700

rs_2054694217

3 SubmittersRCV001072694 RCV005093391 RCV005520418

NM_007294.4(BRCA1):c.209A>G (p.Lys70Arg)

SNV
Germline

Chr17:43106459

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10601750

rs_2054770216

5 SubmittersRCV001077765 RCV001862648 RCV005306286 RCV006261334

NM_007294.4(BRCA1):c.203T>C (p.Ile68Thr)

SNV
Germline

Chr17:43106465

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Malignant tumor of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10601761

rs_80357116

4 SubmittersRCV001076738 RCV001327763 RCV001354567 RCV002418573

NM_007294.4(BRCA1):c.200A>C (p.Asp67Ala)

SNV
Germline

Chr17:43106468

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10601768

rs_1060502331

4 SubmittersRCV001075991 RCV001303051

NM_007294.4(BRCA1):c.162G>C (p.Gln54His)

SNV
Germline

Chr17:43106506

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA053753

rs_772226744

3 SubmittersRCV001072586 RCV001207860

NM_007294.4(BRCA1):c.143T>G (p.Met48Arg)

SNV
Germline

Chr17:43106525

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10601868

rs_1230532866

3 SubmittersRCV001075921 RCV002554777 RCV005782090

NM_007294.4(BRCA1):c.134A>G (p.Lys45Arg)

SNV
Germline

Chr17:43115726

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Malignant tumor of breast

Criteria Provided
Conflicting Classifications

CA10601892

rs_80356863

4 SubmittersRCV001072510 RCV001343435 RCV002379635 RCV001358213

NM_007294.4(BRCA1):c.131G>C (p.Cys44Ser)

SNV
Germline

Chr17:43115729

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome

Criteria Provided
Single Submitter

CA10601897

rs_80357446

2 SubmittersRCV001077012 RCV003530163

NM_007294.4(BRCA1):c.121C>G (p.His41Asp)

SNV
Germline

Chr17:43115739

Likely pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome

Criteria Provided
Single Submitter

CA10601916

rs_1060502353

2 SubmittersRCV001077000 RCV003645178

NM_007294.4(BRCA1):c.95A>G (p.Lys32Arg)

SNV
Germline

Chr17:43115765

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10601963

rs_2055258563

3 SubmittersRCV001076567 RCV005093432 RCV005520428

NM_007294.4(BRCA1):c.94A>T (p.Lys32Ter)

SNV
Germline

Chr17:43115766

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome

Criteria Provided
Single Submitter

CA10601965

rs_2055258887

2 SubmittersRCV001076565 RCV001238158

NM_007294.4(BRCA1):c.84G>T (p.Leu28=)

SNV
Germline

Chr17:43115776

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA500130100

rs_1555599278

3 SubmittersRCV001076556 RCV001254341 RCV005520427

NM_007294.4(BRCA1):c.72T>A (p.Cys24Ter)

SNV
Germline

Chr17:43124025

Pathogenic/Likely pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA10602013

rs_1597923232

3 SubmittersRCV001077755 RCV005093446 RCV005633883

NM_007294.4(BRCA1):c.71G>C (p.Cys24Ser)

SNV
Germline

Chr17:43124026

Likely pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome

Criteria Provided
Single Submitter

CA10602015

rs_80357198

2 SubmittersRCV001077753 RCV002222196

NM_007294.4(BRCA1):c.65T>G (p.Leu22Ter)

SNV
Germline

Chr17:43124032

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA10602026

rs_80357438

3 SubmittersRCV001076492 RCV002557931

NM_007294.4(BRCA1):c.63C>G (p.Ile21Met)

SNV
Germline

Chr17:43124034

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10602029

rs_1555600921

3 SubmittersRCV001072388 RCV001862477 RCV004950264

NM_007294.4(BRCA1):c.62T>C (p.Ile21Thr)

SNV
Germline

Chr17:43124035

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10602031

rs_1135401834

3 SubmittersRCV001072385 RCV004950263 RCV005093385

NM_007294.4(BRCA1):c.56A>C (p.Gln19Pro)

SNV
Germline

Chr17:43124041

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10602046

rs_2055725680

4 SubmittersRCV001076481 RCV001340949 RCV002348515

NM_007294.4(BRCA1):c.43A>G (p.Ile15Val)

SNV
Germline

Chr17:43124054

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10602074

rs_80357031

3 SubmittersRCV001072363 RCV001224243 RCV002327373

NM_007294.4(BRCA1):c.35A>C (p.Gln12Pro)

SNV
Germline

Chr17:43124062

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10602093

rs_1555601006

4 SubmittersRCV001076454 RCV001351289 RCV004031199

NM_007294.4(BRCA1):c.22G>T (p.Val8Phe)

SNV
Germline

Chr17:43124075

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10602119

rs_528902306

4 SubmittersRCV001076436 RCV002445373 RCV001254339

NM_007294.4(BRCA1):c.17T>G (p.Leu6Arg)

SNV
Germline

Chr17:43124080

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
BRCA1-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA10602124

rs_2055741739

5 SubmittersRCV001078107 RCV001593258 RCV003645195 RCV004950285 RCV004803432

NM_007294.4(BRCA1):c.5467+2T>A

SNV
Germline

Chr17:43047641

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome

Criteria Provided
Single Submitter

CA10590413

rs_80358009

2 SubmittersRCV001077923 RCV006465327

NM_007294.4(BRCA1):c.5407-13C>A

SNV
Germline

Chr17:43047716

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA054908

rs_761772657

3 SubmittersRCV001073204 RCV001185952 RCV002554650

NM_007294.4(BRCA1):c.5406+10G>A

SNV
Germline

Chr17:43049111

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Pancreatic cancer, susceptibility to, 4
Fanconi anemia, complementation group S
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA916080828

rs_2051069733

3 SubmittersRCV001076879 RCV001484955 RCV005021435

NM_007294.4(BRCA1):c.5406+2T>A

SNV
Germline

Chr17:43049119

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA10590663

rs_2051071309

3 SubmittersRCV001077327 RCV002348528 RCV005056867

NM_007294.4(BRCA1):c.5406+1G>C

SNV
Germline

Chr17:43049120

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome

Criteria Provided
Single Submitter

CA10590665

rs_80358028

2 SubmittersRCV001077325 RCV002557935

NM_007294.4(BRCA1):c.5333-3T>C

SNV
Germline

Chr17:43049197

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA916080883

rs_397509265

3 SubmittersRCV001077230 RCV001314339 RCV004950278

NM_007294.4(BRCA1):c.5333-13A>G

SNV
Germline

Chr17:43049207

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA916080905

rs_2051099941

4 SubmittersRCV001077216 RCV002067735 RCV005401728

NM_007294.4(BRCA1):c.5278-2A>C

SNV
Germline

Chr17:43051119

Pathogenic/Likely pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA10590993

rs_397509253

3 SubmittersRCV001077157 RCV001254334

NM_007294.4(BRCA1):c.5277+6G>C

SNV
Germline

Chr17:43057046

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA916081124

rs_1057523590

4 SubmittersRCV001075976 RCV001340045 RCV005638547

NM_007294.4(BRCA1):c.5277+5A>G

SNV
Germline

Chr17:43057047

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA913187798

rs_397509252

5 SubmittersRCV001075973 RCV001862638 RCV002348507

NM_007294.4(BRCA1):c.5277+2T>G

SNV
Germline

Chr17:43057050

Pathogenic/Likely pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA10590994

rs_2051494815

4 SubmittersRCV001072611 RCV002348497 RCV003132218 RCV005093389

NM_007294.4(BRCA1):c.5153-2A>C

SNV
Germline

Chr17:43063375

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Familial cancer of breast
Hereditary breast ovarian cancer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA10591237

rs_786202545

3 SubmittersRCV001077719 RCV002249674 RCV002307682

NM_007294.4(BRCA1):c.5152+5G>T

SNV
Germline

Chr17:43063869

Likely pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA916080122

rs_80358165

3 SubmittersRCV001076462 RCV002339366 RCV001199923

NM_007294.4(BRCA1):c.5074+3A>T

SNV
Germline

Chr17:43067605

Likely pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA916080159

rs_80358181

3 SubmittersRCV001076324 RCV001376745 RCV003293871

NM_007294.4(BRCA1):c.4987-6T>A

SNV
Germline

Chr17:43067701

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA916080169

rs_2052193063

3 SubmittersRCV001077404 RCV002339373 RCV005093441

NM_007294.4(BRCA1):c.4987-7A>G

SNV
Germline

Chr17:43067702

Likely pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
BRCA1-related cancer predisposition

Reviewed By Expert Panel

CA916080172

rs_1025136518

4 SubmittersRCV001077402 RCV001219567 RCV002339372 RCV005628876

NM_007294.4(BRCA1):c.4986+2T>A

SNV
Germline

Chr17:43070926

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA10591549

rs_397509210

4 SubmittersRCV001076909 RCV001385887 RCV002339367

NM_007294.4(BRCA1):c.213-7A>G

SNV
Germline

Chr17:43104963

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA913188835

rs_2054700180

4 SubmittersRCV001072665 RCV001226872 RCV002429747

NM_007294.4(BRCA1):c.134+2T>A

SNV
Germline

Chr17:43115724

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA10601888

rs_80358131

4 SubmittersRCV001076219 RCV002379637 RCV002557930

NM_007294.4(BRCA1):c.81-1G>T

SNV
Germline

Chr17:43115780

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA10601992

rs_80358018

3 SubmittersRCV001076154 RCV002418572 RCV005093425

NM_007294.4(BRCA1):c.81-12C>A

SNV
Germline

Chr17:43115791

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA916081046

rs_80358055

3 SubmittersRCV001076139 RCV001456268

NM_007294.4(BRCA1):c.80+3A>C

SNV
Germline

Chr17:43124014

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome

Criteria Provided
Single Submitter

CA916081115

rs_1567823106

2 SubmittersRCV001072412 RCV003530146

NM_007294.4(BRCA1):c.2075A>C (p.His692Pro)

SNV
Germline

Chr17:43093456

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA10597852

rs_2053831947

6 SubmittersRCV001092624 RCV001202161 RCV002418576 RCV004000219

NM_000059.4(BRCA2):c.9648+127G>A

SNV
Germline

Chr13:32397171

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA247508309

rs_182622896

5 SubmittersRCV001171421 RCV001593262 RCV002069616 RCV002256680

NC_000013.11:g.32315487G>T

SNV
Germline

Chr13:32315487

Conflicting classifications of pathogenicity

Fanconi anemia complementation group D1
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA247478018

rs_1036870835

4 SubmittersRCV001111445 RCV001111446 RCV001425606 RCV002259082 RCV002511042

NM_000059.4(BRCA2):c.844C>G (p.His282Asp)

SNV
Germline

Chr13:32332322

Conflicting classifications of pathogenicity

Fanconi anemia complementation group D1
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387760509

rs_768605944

3 SubmittersRCV001113541 RCV001114948 RCV003158428 RCV005093518

NM_000059.4(BRCA2):c.632-3C>T

SNV
Germline

Chr13:32329440

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Fanconi anemia complementation group D1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA658795320

rs_568027879

4 SubmittersRCV001113538 RCV001113539 RCV001188038 RCV003530175

NM_007294.4(BRCA1):c.3688T>G (p.Leu1230Val)

SNV
Germline

Chr17:43091843

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10594587

rs_786201581

5 SubmittersRCV001125829 RCV001856649 RCV002451334

NM_007294.4(BRCA1):c.1866G>C (p.Ala622=)

SNV
Germline

Chr17:43093665

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA500232794

rs_1800064

2 SubmittersRCV001125932 RCV002556729

NM_007294.4(BRCA1):c.727A>T (p.Asn243Tyr)

SNV
Germline

Chr17:43094804

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10600629

rs_587782123

4 SubmittersRCV001125054 RCV002379655 RCV002558235

NM_007294.4(BRCA1):c.593+11G>A

SNV
Germline

Chr17:43097233

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA1139663117

rs_2054175603

2 SubmittersRCV001125055 RCV005093577

NM_000059.4(BRCA2):c.4940C>A (p.Thr1647Lys)

SNV
Germline

Chr13:32339295

Conflicting classifications of pathogenicity

not specified
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387783713

rs_1593903891

4 SubmittersRCV001174613 RCV001319187 RCV003158429

NM_000059.4(BRCA2):c.6627A>G (p.Ile2209Met)

SNV
Germline

Chr13:32340982

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387790251

rs_147275663

4 SubmittersRCV001174603 RCV002365831 RCV006612645

NM_000059.4(BRCA2):c.8611G>T (p.Glu2871Ter)

SNV
Germline

Chr13:32371079

Likely pathogenic

Hereditary breast ovarian cancer syndrome

Criteria Provided
Single Submitter

CA387752927

rs_587782860

1 SubmittersRCV001174721

NM_000251.3(MSH2):c.1408G>T (p.Val470Leu)

SNV
Germline

Chr2:47463052

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA346726756

rs_1391167729

4 SubmittersRCV001182829 RCV005093861 RCV006261702

NM_000059.4(BRCA2):c.147A>C (p.Glu49Asp)

SNV
Germline

Chr13:32319156

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA6940326

rs_779648876

3 SubmittersRCV001179125 RCV001216808

NM_000059.4(BRCA2):c.443G>A (p.Cys148Tyr)

SNV
Germline

Chr13:32326118

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome
Ovarian cancer

Criteria Provided
Conflicting Classifications

CA387757064

rs_1204909245

5 SubmittersRCV001188487 RCV002282474 RCV002295334 RCV003153938

NM_000059.4(BRCA2):c.898G>T (p.Val300Leu)

SNV
Germline

Chr13:32332376

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387760674

rs_878853616

5 SubmittersRCV001177176 RCV005093779

NM_000059.4(BRCA2):c.921T>A (p.Ser307Arg)

SNV
Germline

Chr13:32332399

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA387760734

rs_1555281636

5 SubmittersRCV001183886 RCV002560849 RCV004777987

NM_000059.4(BRCA2):c.1000C>T (p.His334Tyr)

SNV
Germline

Chr13:32332478

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387761048

rs_1593891725

4 SubmittersRCV001181496 RCV001876028

NM_000059.4(BRCA2):c.1039C>T (p.Gln347Ter)

SNV
Germline

Chr13:32332517

Pathogenic

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA387761225

rs_794726967

4 SubmittersRCV001188249 RCV002560923 RCV004822317

NM_000059.4(BRCA2):c.1045A>G (p.Lys349Glu)

SNV
Germline

Chr13:32332523

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified

Criteria Provided
Conflicting Classifications

CA387761251

rs_2072403180

5 SubmittersRCV001185594 RCV001876172 RCV002249768

NM_000059.4(BRCA2):c.1069G>A (p.Glu357Lys)

SNV
Germline

Chr13:32332547

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387761381

rs_2072403764

4 SubmittersRCV001187265 RCV005093947

NM_000059.4(BRCA2):c.1160T>G (p.Val387Gly)

SNV
Germline

Chr13:32332638

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA247496650

rs_373945846

4 SubmittersRCV001186981 RCV001876190

NM_000059.4(BRCA2):c.1258G>C (p.Asp420His)

SNV
Germline

Chr13:32332736

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387762309

rs_2072407813

3 SubmittersRCV001191987 RCV003645215

NM_000059.4(BRCA2):c.1309A>G (p.Lys437Glu)

SNV
Germline

Chr13:32332787

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387762597

rs_2072409220

3 SubmittersRCV001185419 RCV001862911

NM_000059.4(BRCA2):c.1364C>G (p.Ser455Ter)

SNV
Germline

Chr13:32332842

Pathogenic

Hereditary cancer-predisposing syndrome
Breast carcinoma
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA387762873

rs_2072410817

6 SubmittersRCV001176139 RCV001554305 RCV002268433 RCV003493806 RCV005093763

NM_000059.4(BRCA2):c.1424A>G (p.Glu475Gly)

SNV
Germline

Chr13:32332902

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA387764239

rs_1213277350

5 SubmittersRCV001177170 RCV001326348 RCV001773419

NM_000059.4(BRCA2):c.1429C>T (p.His477Tyr)

SNV
Germline

Chr13:32332907

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387764258

rs_2072412671

3 SubmittersRCV001186205 RCV006465648

NM_000059.4(BRCA2):c.1466C>T (p.Ser489Phe)

SNV
Germline

Chr13:32332944

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA387764384

rs_587782535

6 SubmittersRCV001180735 RCV002560804 RCV003478711

NM_000059.4(BRCA2):c.1497G>C (p.Gln499His)

SNV
Germline

Chr13:32332975

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387764472

rs_2072414803

3 SubmittersRCV001182846 RCV001876075

NM_000059.4(BRCA2):c.1548C>G (p.Phe516Leu)

SNV
Germline

Chr13:32333026

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387764653

rs_2072416104

4 SubmittersRCV001190788 RCV001315126

NM_000059.4(BRCA2):c.1674T>G (p.Ile558Met)

SNV
Germline

Chr13:32333152

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA387765102

rs_2072419497

5 SubmittersRCV001183618 RCV001876107 RCV006275060

NM_000059.4(BRCA2):c.1689G>T (p.Trp563Cys)

SNV
Germline

Chr13:32333167

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387765185

rs_80358456

4 SubmittersRCV001177806 RCV001875859

NM_000059.4(BRCA2):c.1955C>G (p.Ser652Cys)

SNV
Germline

Chr13:32336310

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
BRCA2-related disorder

Criteria Provided
Conflicting Classifications

CA387768452

rs_1593895864

5 SubmittersRCV001190989 RCV001315197 RCV004528407

NM_000059.4(BRCA2):c.2037T>A (p.Asn679Lys)

SNV
Germline

Chr13:32336392

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387768912

rs_1406955615

4 SubmittersRCV001181747 RCV003530185

NM_000059.4(BRCA2):c.2129C>T (p.Ser710Leu)

SNV
Germline

Chr13:32336484

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA387770072

rs_886040405

5 SubmittersRCV001183963 RCV002560851 RCV004998687

NM_000059.4(BRCA2):c.2194G>C (p.Glu732Gln)

SNV
Germline

Chr13:32336549

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387770462

rs_1244303575

5 SubmittersRCV001187741 RCV001788423 RCV001862962

NM_000059.4(BRCA2):c.2458G>A (p.Asp820Asn)

SNV
Germline

Chr13:32336813

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387772313

rs_1593896974

4 SubmittersRCV001192023 RCV001337564

NM_000059.4(BRCA2):c.2514A>C (p.Lys838Asn)

SNV
Germline

Chr13:32336869

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387772451

rs_2072459198

4 SubmittersRCV001183368 RCV001876097

NM_000059.4(BRCA2):c.2671G>A (p.Val891Ile)

SNV
Germline

Chr13:32337026

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387773384

rs_756951335

4 SubmittersRCV001179902 RCV002464406 RCV005093820

NM_000059.4(BRCA2):c.2705C>T (p.Ala902Val)

SNV
Germline

Chr13:32337060

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified

Criteria Provided
Conflicting Classifications

CA247502841

rs_749258007

5 SubmittersRCV001182572 RCV001238034 RCV003479286

NM_000059.4(BRCA2):c.2731G>C (p.Glu911Gln)

SNV
Germline

Chr13:32337086

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387773599

rs_2072463630

3 SubmittersRCV001182666 RCV005093860

NM_000059.4(BRCA2):c.2750T>C (p.Val917Ala)

SNV
Germline

Chr13:32337105

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA16020671

rs_2072463944

4 SubmittersRCV001188200 RCV001297509

NM_000059.4(BRCA2):c.2882A>T (p.Gln961Leu)

SNV
Germline

Chr13:32337237

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387774080

rs_2072467086

4 SubmittersRCV001177746 RCV002558860

NM_000059.4(BRCA2):c.3007C>A (p.His1003Asn)

SNV
Germline

Chr13:32337362

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387774711

rs_878853565

4 SubmittersRCV001176261 RCV001302722

NM_000059.4(BRCA2):c.3009C>A (p.His1003Gln)

SNV
Germline

Chr13:32337364

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387774730

rs_2072470391

3 SubmittersRCV001189804 RCV002298896

NM_000059.4(BRCA2):c.3014T>C (p.Phe1005Ser)

SNV
Germline

Chr13:32337369

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387774789

rs_2072470533

4 SubmittersRCV001183128 RCV001876086

NM_000059.4(BRCA2):c.3406A>T (p.Ile1136Leu)

SNV
Germline

Chr13:32337761

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387776482

rs_876658683

4 SubmittersRCV001192323 RCV001327807

NM_000059.4(BRCA2):c.4046T>G (p.Ile1349Ser)

SNV
Germline

Chr13:32338401

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387779097

rs_80358654

4 SubmittersRCV001178524 RCV005093799

NM_000059.4(BRCA2):c.4259A>T (p.Asp1420Val)

SNV
Germline

Chr13:32338614

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA387780477

rs_2072500081

5 SubmittersRCV001185375 RCV001292803 RCV001210739 RCV003478721

NM_000059.4(BRCA2):c.4266G>C (p.Glu1422Asp)

SNV
Germline

Chr13:32338621

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
BRCA2-related cancer predisposition
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387780526

rs_2072500238

5 SubmittersRCV001187027 RCV004803521 RCV005093941

NM_000059.4(BRCA2):c.4388A>G (p.Asn1463Ser)

SNV
Germline

Chr13:32338743

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA387781080

rs_1305070555

4 SubmittersRCV001183612 RCV001876105 RCV004803494

NM_000059.4(BRCA2):c.4470A>G (p.Ile1490Met)

SNV
Germline

Chr13:32338825

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA387781457

rs_1593902461

5 SubmittersRCV001187153 RCV001362914 RCV003448372

NM_000059.4(BRCA2):c.4620C>G (p.Asp1540Glu)

SNV
Germline

Chr13:32338975

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387782049

rs_1555283875

4 SubmittersRCV001189443 RCV001876215

NM_000059.4(BRCA2):c.4708A>G (p.Arg1570Gly)

SNV
Germline

Chr13:32339063

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA387782922

rs_2072511183

5 SubmittersRCV001176679 RCV001324641 RCV004006315

NM_000059.4(BRCA2):c.4782G>A (p.Met1594Ile)

SNV
Germline

Chr13:32339137

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387783210

rs_876658930

3 SubmittersRCV001190336 RCV003106149

NM_000059.4(BRCA2):c.4862G>A (p.Cys1621Tyr)

SNV
Germline

Chr13:32339217

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387783428

rs_730881534

4 SubmittersRCV001186141 RCV001340819

NM_000059.4(BRCA2):c.4913A>C (p.Lys1638Thr)

SNV
Germline

Chr13:32339268

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA6940824

rs_771425987

4 SubmittersRCV001184083 RCV003645204

NM_000059.4(BRCA2):c.5018C>T (p.Thr1673Ile)

SNV
Germline

Chr13:32339373

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA247508871

rs_376249157

4 SubmittersRCV001188183 RCV001312551

NM_000059.4(BRCA2):c.5099G>T (p.Gly1700Val)

SNV
Germline

Chr13:32339454

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387784120

rs_2072520161

4 SubmittersRCV001190291 RCV002560079

NM_000059.4(BRCA2):c.5165G>T (p.Ser1722Ile)

SNV
Germline

Chr13:32339520

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA6940851

rs_773707172

5 SubmittersRCV001188184 RCV001284088 RCV001859127

NM_000059.4(BRCA2):c.5185A>G (p.Lys1729Glu)

SNV
Germline

Chr13:32339540

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387784563

rs_2072522644

4 SubmittersRCV001179151 RCV001316904

NM_000059.4(BRCA2):c.5226C>G (p.Asn1742Lys)

SNV
Germline

Chr13:32339581

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387784650

rs_1057522266

4 SubmittersRCV001184344 RCV003645205

NM_000059.4(BRCA2):c.5269T>C (p.Tyr1757His)

SNV
Germline

Chr13:32339624

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387784740

rs_2072525454

4 SubmittersRCV001325236 RCV001177463

NM_000059.4(BRCA2):c.5351A>C (p.Asn1784Thr)

SNV
Germline

Chr13:32339706

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387785045

rs_2072527448

3 SubmittersRCV001181454 RCV003530184

NM_000059.4(BRCA2):c.5654G>A (p.Cys1885Tyr)

SNV
Germline

Chr13:32340009

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387786168

rs_876660854

4 SubmittersRCV001184925 RCV001876160

NM_000059.4(BRCA2):c.5714A>C (p.His1905Pro)

SNV
Germline

Chr13:32340069

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387786801

rs_80358796

3 SubmittersRCV001185600 RCV002560873

NM_000059.4(BRCA2):c.5716A>G (p.Asn1906Asp)

SNV
Germline

Chr13:32340071

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387786808

rs_2072536623

3 SubmittersRCV001179761 RCV001875949

NM_000059.4(BRCA2):c.5769C>A (p.Asp1923Glu)

SNV
Germline

Chr13:32340124

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA387787095

rs_863224309

5 SubmittersRCV001178917 RCV002559753 RCV006261351

NM_000059.4(BRCA2):c.5788T>G (p.Leu1930Val)

SNV
Germline

Chr13:32340143

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387787165

rs_2072538460

3 SubmittersRCV001180559 RCV001221173

NM_000059.4(BRCA2):c.6152A>C (p.Asn2051Thr)

SNV
Germline

Chr13:32340507

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387788292

rs_398122549

3 SubmittersRCV001177016 RCV002558838

NM_000059.4(BRCA2):c.6263C>G (p.Thr2088Ser)

SNV
Germline

Chr13:32340618

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387788956

rs_767567428

4 SubmittersRCV001181099 RCV001876017

NM_000059.4(BRCA2):c.6316C>G (p.Leu2106Val)

SNV
Germline

Chr13:32340671

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387789057

rs_876660892

4 SubmittersRCV001182388 RCV003645200

NM_000059.4(BRCA2):c.6350G>C (p.Cys2117Ser)

SNV
Germline

Chr13:32340705

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387789125

rs_2072553110

3 SubmittersRCV001189018 RCV003645209

NM_000059.4(BRCA2):c.6374C>G (p.Thr2125Ser)

SNV
Germline

Chr13:32340729

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387789179

rs_776937022

4 SubmittersRCV001180021 RCV001875969

NM_000059.4(BRCA2):c.6400A>C (p.Asn2134His)

SNV
Germline

Chr13:32340755

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA387789233

rs_1434431480

4 SubmittersRCV001185078 RCV001207107 RCV002285452

NM_000059.4(BRCA2):c.6504A>G (p.Gly2168=)

SNV
Germline

Chr13:32340859

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA483439078

rs_755877503

4 SubmittersRCV001189797 RCV001447197 RCV004794501

NM_000059.4(BRCA2):c.6722C>G (p.Thr2241Arg)

SNV
Germline

Chr13:32341077

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387791040

rs_276174877

4 SubmittersRCV001182448 RCV002559802

NM_000059.4(BRCA2):c.6886A>T (p.Ile2296Leu)

SNV
Germline

Chr13:32344602

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA387792784

rs_576279166

4 SubmittersRCV001185568 RCV003770064 RCV004008538 RCV006258421

NM_000059.4(BRCA2):c.7015A>G (p.Lys2339Glu)

SNV
Germline

Chr13:32354868

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified

Criteria Provided
Conflicting Classifications

CA387794087

rs_2072676209

4 SubmittersRCV001175820 RCV001368401 RCV002249756

NM_000059.4(BRCA2):c.7868A>T (p.His2623Leu)

SNV
Germline

Chr13:32362585

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast and/or ovarian cancer

Criteria Provided
Conflicting Classifications

CA387747085

rs_80359012

4 SubmittersRCV001183338 RCV001876095 RCV003150408

NM_000059.4(BRCA2):c.7895C>T (p.Ala2632Val)

SNV
Germline

Chr13:32362612

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387747137

rs_765839296

3 SubmittersRCV001183821 RCV001201632

NM_000059.4(BRCA2):c.8129G>A (p.Ser2710Asn)

SNV
Germline

Chr13:32363331

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387749417

rs_2072756770

5 SubmittersRCV001190000 RCV004570395 RCV004010401 RCV005093996

NM_000059.4(BRCA2):c.8725A>T (p.Lys2909Ter)

SNV
Germline

Chr13:32376762

Pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Hereditary breast ovarian cancer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA387754972

rs_2072875960

3 SubmittersRCV001191822 RCV002249774 RCV003645214

NM_000059.4(BRCA2):c.9349C>T (p.His3117Tyr)

SNV
Germline

Chr13:32394781

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA387761080

rs_2073022451

6 SubmittersRCV001176712 RCV003462646 RCV003530177 RCV004006318 RCV006261346

NM_002878.4(RAD51D):c.141C>T (p.Tyr47=)

SNV
Germline

Chr17:35119114

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 4
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA499732383

rs_771077929

4 SubmittersRCV001181230 RCV003769983 RCV005359900

NM_007294.4(BRCA1):c.4756G>T (p.Glu1586Ter)

SNV
Germline

Chr17:43071158

Pathogenic

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA10591996

rs_2052414656

3 SubmittersRCV001178222 RCV001875882 RCV003148943

NM_007294.4(BRCA1):c.4624T>C (p.Ser1542Pro)

SNV
Germline

Chr17:43074382

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
not specified
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10592261

rs_2052595821

4 SubmittersRCV001179690 RCV003229616 RCV003321803 RCV003645198

NM_007294.4(BRCA1):c.4539C>A (p.Cys1513Ter)

SNV
Germline

Chr17:43074467

Pathogenic

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA10592438

rs_2052610048

3 SubmittersRCV001186183 RCV002560882

NM_007294.4(BRCA1):c.3928A>G (p.Thr1310Ala)

SNV
Germline

Chr17:43091603

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10594103

rs_2053499046

4 SubmittersRCV001183920 RCV001260377 RCV002559853

NM_007294.4(BRCA1):c.3857G>T (p.Ser1286Ile)

SNV
Germline

Chr17:43091674

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Fanconi anemia, complementation group S

Criteria Provided
Conflicting Classifications

CA10594248

rs_142383077

5 SubmittersRCV001187213 RCV001373635 RCV005359911

NM_007294.4(BRCA1):c.3574C>T (p.Pro1192Ser)

SNV
Germline

Chr17:43091957

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA059376

rs_754014157

4 SubmittersRCV001176483 RCV001222553

NM_007294.4(BRCA1):c.3571A>G (p.Ser1191Gly)

SNV
Germline

Chr17:43091960

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10594821

rs_2053563998

4 SubmittersRCV001185656 RCV002559911

NM_007294.4(BRCA1):c.3517A>G (p.Ser1173Gly)

SNV
Germline

Chr17:43092014

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA10594937

rs_2053573116

5 SubmittersRCV001187799 RCV002560913 RCV004008738

NM_007294.4(BRCA1):c.3465T>A (p.Asp1155Glu)

SNV
Germline

Chr17:43092066

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10595053

rs_1567791539

4 SubmittersRCV001182145 RCV001295671 RCV001800958

NM_007294.4(BRCA1):c.3350T>C (p.Val1117Ala)

SNV
Germline

Chr17:43092181

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10595275

rs_2053602865

4 SubmittersRCV001185557 RCV001859110

NM_007294.4(BRCA1):c.3275A>G (p.Glu1092Gly)

SNV
Germline

Chr17:43092256

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA058002

rs_751368643

3 SubmittersRCV001182940 RCV005093865

NM_007294.4(BRCA1):c.3205C>T (p.Gln1069Ter)

SNV
Germline

Chr17:43092326

Pathogenic

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Multiple Submitters
No Conflicts

CA10595568

rs_2053627043

5 SubmittersRCV001184198 RCV001381235 RCV004998688 RCV004761953

NM_007294.4(BRCA1):c.3114A>C (p.Glu1038Asp)

SNV
Germline

Chr17:43092417

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA10595758

rs_1479034426

5 SubmittersRCV001191204 RCV003770155 RCV004792775

NM_007294.4(BRCA1):c.2929C>G (p.Pro977Ala)

SNV
Germline

Chr17:43092602

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10596135

rs_1064794043

4 SubmittersRCV001190507 RCV003106150

NM_007294.4(BRCA1):c.2911C>T (p.His971Tyr)

SNV
Germline

Chr17:43092620

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10596170

rs_80357478

4 SubmittersRCV001177734 RCV002558859

NM_007294.4(BRCA1):c.2874C>A (p.Phe958Leu)

SNV
Germline

Chr17:43092657

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10596239

rs_1029207537

3 SubmittersRCV001177203 RCV001875837

NM_007294.4(BRCA1):c.2749A>G (p.Ile917Val)

SNV
Germline

Chr17:43092782

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10596491

rs_1334134701

6 SubmittersRCV001191044 RCV002222673 RCV002560966

NM_007294.4(BRCA1):c.2357T>A (p.Leu786Gln)

SNV
Germline

Chr17:43093174

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10597295

rs_760864137

4 SubmittersRCV001186363 RCV001876183

NM_007294.4(BRCA1):c.2144C>G (p.Thr715Ser)

SNV
Germline

Chr17:43093387

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10597716

rs_2053817641

4 SubmittersRCV001182622 RCV001876064

NM_007294.4(BRCA1):c.2140A>G (p.Asn714Asp)

SNV
Germline

Chr17:43093391

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA058784

rs_568312345

4 SubmittersRCV001183207 RCV002559826

NM_007294.4(BRCA1):c.2107A>G (p.Thr703Ala)

SNV
Germline

Chr17:43093424

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10597789

rs_2053825384

3 SubmittersRCV001186207 RCV001218185

NM_007294.4(BRCA1):c.2026A>G (p.Thr676Ala)

SNV
Germline

Chr17:43093505

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10597958

rs_1268006720

3 SubmittersRCV001188621 RCV003645207

NM_007294.4(BRCA1):c.1937G>A (p.Ser646Asn)

SNV
Germline

Chr17:43093594

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10598153

rs_2053857094

4 SubmittersRCV001188017 RCV002559142

NM_007294.4(BRCA1):c.1768A>T (p.Ser590Cys)

SNV
Germline

Chr17:43093763

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10598489

rs_80357454

4 SubmittersRCV001178429 RCV001305149

NM_007294.4(BRCA1):c.1727A>G (p.Lys576Arg)

SNV
Germline

Chr17:43093804

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10598576

rs_2053893835

3 SubmittersRCV001179202 RCV001875926

NM_007294.4(BRCA1):c.1594A>T (p.Ile532Leu)

SNV
Germline

Chr17:43093937

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10598854

rs_2053915860

4 SubmittersRCV001189696 RCV005057064

NM_007294.4(BRCA1):c.1591A>T (p.Met531Leu)

SNV
Germline

Chr17:43093940

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10598863

rs_2053916000

3 SubmittersRCV001182334 RCV003645199

NM_007294.4(BRCA1):c.1523C>A (p.Pro508His)

SNV
Germline

Chr17:43094008

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10599000

rs_398122637

4 SubmittersRCV001177435 RCV001875847

NM_007294.4(BRCA1):c.1513A>G (p.Lys505Glu)

SNV
Germline

Chr17:43094018

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10599019

rs_397508877

3 SubmittersRCV001180897 RCV006465599

NM_007294.4(BRCA1):c.1511G>T (p.Arg504Leu)

SNV
Germline

Chr17:43094020

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10599021

rs_56272539

4 SubmittersRCV001181396 RCV005093844

NM_007294.4(BRCA1):c.1480C>G (p.Gln494Glu)

SNV
Germline

Chr17:43094051

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10599087

rs_80357010

3 SubmittersRCV001176416 RCV001314878

NM_007294.4(BRCA1):c.1377A>C (p.Lys459Asn)

SNV
Germline

Chr17:43094154

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10599290

rs_2053948858

3 SubmittersRCV001180887 RCV005093837

NM_007294.4(BRCA1):c.1094G>T (p.Arg365Ile)

SNV
Germline

Chr17:43094437

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10599870

rs_2053994698

4 SubmittersRCV001187959 RCV003645206

NM_007294.4(BRCA1):c.1049G>A (p.Arg350Lys)

SNV
Germline

Chr17:43094482

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10599965

rs_2054001685

5 SubmittersRCV001180918 RCV001223512 RCV005629937

NM_007294.4(BRCA1):c.1045G>A (p.Glu349Lys)

SNV
Germline

Chr17:43094486

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA10599974

rs_80357338

4 SubmittersRCV001182137 RCV001876054 RCV004008276

NM_007294.4(BRCA1):c.80+16A>T

SNV
Germline

Chr17:43124001

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA1139665590

rs_747618610

3 SubmittersRCV001185894 RCV002465842 RCV002559921

NM_000051.4(ATM):c.3746+18A>G

SNV
Germline

Chr11:108282897

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA913187773

rs_2082310429

3 SubmittersRCV001192127 RCV001863047 RCV002225806

NM_000059.4(BRCA2):c.6937+5A>G

SNV
Germline

Chr13:32344658

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
8 conditions
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1139663148

rs_397507379

5 SubmittersRCV001179754 RCV002558922 RCV005394785 RCV006261354

NM_000059.4(BRCA2):c.8754+1G>C

SNV
Germline

Chr13:32376792

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Multiple Submitters
No Conflicts

CA387755108

rs_397508006

4 SubmittersRCV001182890 RCV001243882 RCV005359908

NM_007294.4(BRCA1):c.441+8C>T

SNV
Germline

Chr17:43104114

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA056105

rs_756130118

3 SubmittersRCV001180530 RCV002307691

NM_000059.4(BRCA2):c.860T>C (p.Met287Thr)

SNV
Germline

Chr13:32332338

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387760564

rs_2072398884

5 SubmittersRCV001193359 RCV001284451 RCV001338980 RCV003158441

NM_000059.4(BRCA2):c.1553C>G (p.Ala518Gly)

SNV
Germline

Chr13:32333031

Conflicting classifications of pathogenicity

not specified
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387764672

rs_2072416288

4 SubmittersRCV001192643 RCV001863052 RCV003158439

NM_000059.4(BRCA2):c.4622A>G (p.Lys1541Arg)

SNV
Germline

Chr13:32338977

Conflicting classifications of pathogenicity

not specified
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA6940799

rs_747899091

3 SubmittersRCV001193170 RCV003530187 RCV003158440

NM_000059.4(BRCA2):c.5279C>A (p.Ser1760Ter)

SNV
Germline

Chr13:32339634

Pathogenic

Hereditary breast ovarian cancer syndrome
Gastric cancer

Criteria Provided
Single Submitter

CA387784762

rs_80358751

2 SubmittersRCV001193324 RCV003163487

NM_000059.4(BRCA2):c.6611C>A (p.Pro2204His)

SNV
Germline

Chr13:32340966

Conflicting classifications of pathogenicity

not specified
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA387790156

rs_1555284771

7 SubmittersRCV001192647 RCV001294632 RCV001806037 RCV003444781 RCV004803557

NM_007294.4(BRCA1):c.4080C>G (p.Ser1360Arg)

SNV
Germline

Chr17:43091451

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10593797

rs_2053471401

3 SubmittersRCV001192526 RCV003158434 RCV005094023

NM_007294.4(BRCA1):c.3925A>G (p.Asn1309Asp)

SNV
Germline

Chr17:43091606

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10594111

rs_2053499636

5 SubmittersRCV001192478 RCV002375117 RCV002561004

NM_007294.4(BRCA1):c.2705A>G (p.Glu902Gly)

SNV
Germline

Chr17:43092826

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA058365

rs_747287311

5 SubmittersRCV001193191 RCV002436764 RCV003645218 RCV004726942

NM_007294.4(BRCA1):c.1231G>C (p.Asp411His)

SNV
Germline

Chr17:43094300

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10599591

rs_80357301

4 SubmittersRCV001194452 RCV003158446 RCV003645221

NM_007294.4(BRCA1):c.913T>C (p.Cys305Arg)

SNV
Germline

Chr17:43094618

Conflicting classifications of pathogenicity

not specified
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10600245

rs_1597879229

6 SubmittersRCV001193164 RCV001350576 RCV002375121 RCV004998714

NM_000059.4(BRCA2):c.517-2A>T

SNV
Germline

Chr13:32326497

Likely pathogenic

Hereditary breast ovarian cancer syndrome

Criteria Provided
Single Submitter

CA387757763

rs_81002858

1 SubmittersRCV001193889

NM_000059.4(BRCA2):c.7436-1G>T

SNV
Germline

Chr13:32356427

Pathogenic/Likely pathogenic

Hereditary breast ovarian cancer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA387742947

rs_886040939

2 SubmittersRCV001193423

NM_007294.4(BRCA1):c.4185+1G>C

SNV
Germline

Chr17:43090943

Likely pathogenic

Hereditary breast ovarian cancer syndrome

Criteria Provided
Single Submitter

CA10593354

rs_80358076

1 SubmittersRCV001192473

NM_003579.4(RAD54L):c.1138C>T (p.Arg380Trp)

SNV
Germline

Chr1:46270754

Conflicting classifications of pathogenicity

Premature ovarian failure
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA834475

rs_150138364

2 SubmittersRCV001270182 RCV002225807

NM_058216.3(RAD51C):c.837+1G>C

SNV
Germline

Chr17:58709991

Pathogenic/Likely pathogenic

Hereditary breast ovarian cancer syndrome
Fanconi anemia complementation group O
Gastric cancer
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 3

Criteria Provided
Multiple Submitters
No Conflicts

CA400354549

rs_760235677

6 SubmittersRCV001199931 RCV001378839 RCV003163505 RCV003163504 RCV004033484

NM_000251.3(MSH2):c.1721A>G (p.Gln574Arg)

SNV
Germline

Chr2:47471024

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Muir-Torré syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA346728162

rs_1667078647

4 SubmittersRCV001215852 RCV003294038 RCV005359949 RCV005638557

NM_000059.4(BRCA2):c.23G>A (p.Arg8Lys)

SNV
Germline

Chr13:32316483

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387752963

rs_2072261141

2 SubmittersRCV001218282 RCV005306324

NM_000059.4(BRCA2):c.299A>C (p.Lys100Thr)

SNV
Germline

Chr13:32319308

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387754667

rs_2072290145

3 SubmittersRCV001222027 RCV003163710

NM_000059.4(BRCA2):c.763A>C (p.Asn255His)

SNV
Germline

Chr13:32331000

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387760138

rs_2072386794

3 SubmittersRCV001219356 RCV003462746 RCV005306326

NM_000059.4(BRCA2):c.844C>T (p.His282Tyr)

SNV
Germline

Chr13:32332322

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA6940469

rs_768605944

2 SubmittersRCV001218501 RCV003158519

NM_000059.4(BRCA2):c.952A>G (p.Lys318Glu)

SNV
Germline

Chr13:32332430

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387760853

rs_397508060

2 SubmittersRCV001217298 RCV003158514

NM_000059.4(BRCA2):c.1048G>A (p.Glu350Lys)

SNV
Germline

Chr13:32332526

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387761263

rs_2072403231

2 SubmittersRCV001215803 RCV003158506

NM_000059.4(BRCA2):c.1363T>C (p.Ser455Pro)

SNV
Germline

Chr13:32332841

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387762858

rs_747592488

2 SubmittersRCV001222883 RCV003158539

NM_000059.4(BRCA2):c.1366G>T (p.Glu456Ter)

SNV
Germline

Chr13:32332844

Pathogenic

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
8 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA387762884

rs_778142232

3 SubmittersRCV001223222 RCV003346387 RCV005012633

NM_000059.4(BRCA2):c.1497G>A (p.Gln499=)

SNV
Germline

Chr13:32332975

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA483436721

rs_2072414803

3 SubmittersRCV001224830 RCV004032520

NM_000059.4(BRCA2):c.1729G>A (p.Ala577Thr)

SNV
Germline

Chr13:32333207

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA387765377

rs_2072420568

4 SubmittersRCV001218722 RCV002402656 RCV004010721

NM_000059.4(BRCA2):c.1777G>A (p.Ala593Thr)

SNV
Germline

Chr13:32333255

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387765674

rs_431825286

2 SubmittersRCV001215366 RCV003158502

NM_000059.4(BRCA2):c.1816C>A (p.Pro606Thr)

SNV
Germline

Chr13:32333294

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified

Criteria Provided
Conflicting Classifications

CA6940543

rs_765924757

3 SubmittersRCV001218869 RCV003158521 RCV005232185

NM_000059.4(BRCA2):c.2114A>G (p.Glu705Gly)

SNV
Germline

Chr13:32336469

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387769992

rs_2072450678

2 SubmittersRCV001215110 RCV003158500

NM_000059.4(BRCA2):c.2333T>A (p.Val778Asp)

SNV
Germline

Chr13:32336688

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387771549

rs_1064793704

2 SubmittersRCV001216233 RCV003158509

NM_000059.4(BRCA2):c.2549A>C (p.Gln850Pro)

SNV
Germline

Chr13:32336904

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387772518

rs_2072459937

3 SubmittersRCV001218375 RCV002429930

NM_000059.4(BRCA2):c.2833A>T (p.Lys945Ter)

SNV
Germline

Chr13:32337188

Pathogenic

Hereditary breast ovarian cancer syndrome

Criteria Provided
Single Submitter

CA387773851

rs_2072466023

1 SubmittersRCV001222906

NM_000059.4(BRCA2):c.2874T>G (p.Ser958Arg)

SNV
Germline

Chr13:32337229

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387774044

rs_1566227393

4 SubmittersRCV001220005 RCV001806056

NM_000059.4(BRCA2):c.3184C>G (p.Pro1062Ala)

SNV
Germline

Chr13:32337539

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA387775835

rs_1555283083

4 SubmittersRCV001220618 RCV002322066 RCV006258450

NM_000059.4(BRCA2):c.3420T>A (p.Ser1140Arg)

SNV
Germline

Chr13:32337775

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387776518

rs_118093942

3 SubmittersRCV001224098 RCV002451525

NM_000059.4(BRCA2):c.3550G>A (p.Gly1184Ser)

SNV
Germline

Chr13:32337905

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387777220

rs_1593899860

3 SubmittersRCV001216434 RCV003158511

NM_000059.4(BRCA2):c.3566A>C (p.Lys1189Thr)

SNV
Germline

Chr13:32337921

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387777309

rs_2072483773

3 SubmittersRCV001222635 RCV003158535

NM_000059.4(BRCA2):c.3639A>C (p.Glu1213Asp)

SNV
Germline

Chr13:32337994

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387777930

rs_1303026901

2 SubmittersRCV001222628 RCV003158534

NM_000059.4(BRCA2):c.3816G>C (p.Met1272Ile)

SNV
Germline

Chr13:32338171

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Fanconi anemia complementation group D1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387778465

rs_1469541725

3 SubmittersRCV001220912 RCV001535557 RCV003158527

NM_000059.4(BRCA2):c.3971A>C (p.Tyr1324Ser)

SNV
Germline

Chr13:32338326

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387778933

rs_1486461236

2 SubmittersRCV001214458 RCV003158498

NM_000059.4(BRCA2):c.4017T>G (p.Ser1339Arg)

SNV
Germline

Chr13:32338372

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387779033

rs_1593901181

2 SubmittersRCV001214930 RCV003158499

NM_000059.4(BRCA2):c.4198C>T (p.His1400Tyr)

SNV
Germline

Chr13:32338553

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387780199

rs_2072498694

2 SubmittersRCV001224327 RCV003158544

NM_000059.4(BRCA2):c.4285C>G (p.Gln1429Glu)

SNV
Germline

Chr13:32338640

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387780634

rs_80358665

2 SubmittersRCV001217397 RCV003158516

NM_000059.4(BRCA2):c.4424T>C (p.Met1475Thr)

SNV
Germline

Chr13:32338779

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
8 conditions

Criteria Provided
Conflicting Classifications

CA387781259

rs_2072503948

3 SubmittersRCV001224465 RCV003158545 RCV005005096

NM_000059.4(BRCA2):c.4457T>G (p.Val1486Gly)

SNV
Germline

Chr13:32338812

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387781396

rs_2072504759

5 SubmittersRCV001218272 RCV001751411 RCV003158518

NM_000059.4(BRCA2):c.4559C>T (p.Thr1520Ile)

SNV
Germline

Chr13:32338914

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA6940791

rs_747993489

2 SubmittersRCV001217101 RCV003158513

NM_000059.4(BRCA2):c.4579G>C (p.Ala1527Pro)

SNV
Germline

Chr13:32338934

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387781894

rs_879254071

3 SubmittersRCV001215640 RCV003158505

NM_000059.4(BRCA2):c.4682A>G (p.His1561Arg)

SNV
Germline

Chr13:32339037

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387782824

rs_2072510587

2 SubmittersRCV001216320 RCV003158510

NM_000059.4(BRCA2):c.4769A>G (p.Lys1590Arg)

SNV
Germline

Chr13:32339124

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387783160

rs_2072512459

4 SubmittersRCV001223675 RCV002339592

NM_000059.4(BRCA2):c.5281G>A (p.Gly1761Arg)

SNV
Germline

Chr13:32339636

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387784764

rs_886038122

3 SubmittersRCV001216529 RCV002348721

NM_000059.4(BRCA2):c.5352C>A (p.Asn1784Lys)

SNV
Germline

Chr13:32339707

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
not specified
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA387785047

rs_1555284187

5 SubmittersRCV001222103 RCV002249810 RCV003158531 RCV006258453

NM_000059.4(BRCA2):c.5507A>G (p.Asn1836Ser)

SNV
Germline

Chr13:32339862

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387785824

rs_80358773

3 SubmittersRCV001215253 RCV003158501

NM_000059.4(BRCA2):c.5623A>C (p.Lys1875Gln)

SNV
Germline

Chr13:32339978

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387786111

rs_886040600

3 SubmittersRCV001223378 RCV002348748

NM_000059.4(BRCA2):c.5652T>G (p.Ile1884Met)

SNV
Germline

Chr13:32340007

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA387786164

rs_766067138

4 SubmittersRCV001215269 RCV002348718 RCV004010704

NM_000059.4(BRCA2):c.5816T>A (p.Leu1939Ter)

SNV
Germline

Chr13:32340171

Pathogenic

Hereditary breast ovarian cancer syndrome

Criteria Provided
Single Submitter

CA387787266

rs_2072539219

1 SubmittersRCV001225152

NM_000059.4(BRCA2):c.5994A>C (p.Gln1998His)

SNV
Germline

Chr13:32340349

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387787663

rs_554663691

3 SubmittersRCV001221658 RCV002356943

NM_000059.4(BRCA2):c.6014A>C (p.Asp2005Ala)

SNV
Germline

Chr13:32340369

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387787717

rs_876658259

3 SubmittersRCV001214445 RCV003158497

NM_000059.4(BRCA2):c.6014A>T (p.Asp2005Val)

SNV
Germline

Chr13:32340369

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387787720

rs_876658259

2 SubmittersRCV001217300 RCV003158515

NM_000059.4(BRCA2):c.6070C>G (p.Gln2024Glu)

SNV
Germline

Chr13:32340425

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387787966

rs_80358844

2 SubmittersRCV001219166 RCV003158524

NM_000059.4(BRCA2):c.6141T>A (p.Tyr2047Ter)

SNV
Germline

Chr13:32340496

Pathogenic

Hereditary breast ovarian cancer syndrome

Criteria Provided
Single Submitter

CA387788245

rs_1466688245

1 SubmittersRCV001215941

NM_000059.4(BRCA2):c.6179C>T (p.Thr2060Ile)

SNV
Germline

Chr13:32340534

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387788391

rs_2072548301

2 SubmittersRCV001216567 RCV003158512

NM_000059.4(BRCA2):c.6236T>C (p.Val2079Ala)

SNV
Germline

Chr13:32340591

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387788900

rs_864622757

3 SubmittersRCV001219811 RCV002365994

NM_000059.4(BRCA2):c.6364A>G (p.Met2122Val)

SNV
Germline

Chr13:32340719

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387789153

rs_2072553442

3 SubmittersRCV001218990 RCV003158523

NM_000059.4(BRCA2):c.6374C>A (p.Thr2125Asn)

SNV
Germline

Chr13:32340729

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA6940946

rs_776937022

4 SubmittersRCV001218388 RCV001751413 RCV002365988

NM_000059.4(BRCA2):c.6401A>G (p.Asn2134Ser)

SNV
Germline

Chr13:32340756

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA387789238

rs_2072554340

6 SubmittersRCV001222213 RCV002365998 RCV003490134

NM_000059.4(BRCA2):c.6457C>T (p.Pro2153Ser)

SNV
Germline

Chr13:32340812

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387789340

rs_2072556359

2 SubmittersRCV001223775 RCV003158542

NM_000059.4(BRCA2):c.6726T>A (p.Asp2242Glu)

SNV
Germline

Chr13:32341081

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387791054

rs_2072563704

2 SubmittersRCV001224990 RCV003158550

NM_000059.4(BRCA2):c.8236A>G (p.Thr2746Ala)

SNV
Germline

Chr13:32363438

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA387749882

rs_2072759579

4 SubmittersRCV001215043 RCV002411791 RCV001751400

NM_000059.4(BRCA2):c.9635G>A (p.Gly3212Glu)

SNV
Germline

Chr13:32397031

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387763776

rs_1281719451

3 SubmittersRCV001218607 RCV003353214

NM_007294.4(BRCA1):c.4391C>G (p.Pro1464Arg)

SNV
Germline

Chr17:43076581

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10592754

rs_2052738000

4 SubmittersRCV001215363 RCV001800970 RCV003316833 RCV005782112

NM_007294.4(BRCA1):c.4091A>C (p.Asn1364Thr)

SNV
Germline

Chr17:43091440

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA058967

rs_765156052

4 SubmittersRCV001222256 RCV001806058

NM_007294.4(BRCA1):c.4027G>C (p.Asp1343His)

SNV
Germline

Chr17:43091504

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10593905

rs_1160287128

2 SubmittersRCV001223562 RCV003158541

NM_007294.4(BRCA1):c.3994G>C (p.Gly1332Arg)

SNV
Germline

Chr17:43091537

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10593973

rs_2053488210

2 SubmittersRCV001222187 RCV003158532

NM_007294.4(BRCA1):c.3806A>G (p.Asp1269Gly)

SNV
Germline

Chr17:43091725

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10594357

rs_2053520234

2 SubmittersRCV001218834 RCV003158520

NM_007294.4(BRCA1):c.3677T>C (p.Phe1226Ser)

SNV
Germline

Chr17:43091854

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10594613

rs_1396926041

2 SubmittersRCV001222760 RCV003158538

NM_007294.4(BRCA1):c.3667C>G (p.Leu1223Val)

SNV
Germline

Chr17:43091864

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10594635

rs_1555587309

3 SubmittersRCV001225218 RCV002451530

NM_007294.4(BRCA1):c.3590A>T (p.His1197Leu)

SNV
Germline

Chr17:43091941

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10594783

rs_2053559788

3 SubmittersRCV001221139 RCV002451511

NM_007294.4(BRCA1):c.3585T>A (p.His1195Gln)

SNV
Germline

Chr17:43091946

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10594794

rs_2053561125

6 SubmittersRCV001216829 RCV001524003 RCV006258446

NM_007294.4(BRCA1):c.3340G>A (p.Glu1114Lys)

SNV
Germline

Chr17:43092191

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10595297

rs_80357278

2 SubmittersRCV001220988 RCV003158528

NM_007294.4(BRCA1):c.3337T>G (p.Tyr1113Asp)

SNV
Germline

Chr17:43092194

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10595302

rs_2053606087

2 SubmittersRCV001223019 RCV003158540

NM_007294.4(BRCA1):c.3185G>C (p.Gly1062Ala)

SNV
Germline

Chr17:43092346

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10595615

rs_397507211

2 SubmittersRCV001222330 RCV003158533

NM_007294.4(BRCA1):c.3125G>A (p.Ser1042Asn)

SNV
Germline

Chr17:43092406

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA058108

rs_767217821

2 SubmittersRCV001224957 RCV003158549

NM_007294.4(BRCA1):c.2822A>C (p.Asn941Thr)

SNV
Germline

Chr17:43092709

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10596348

rs_776512377

3 SubmittersRCV001224237 RCV003158543

NM_007294.4(BRCA1):c.2607T>A (p.Phe869Leu)

SNV
Germline

Chr17:43092924

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10596781

rs_2053730454

2 SubmittersRCV001221198 RCV003158529

NM_007294.4(BRCA1):c.2486T>G (p.Phe829Cys)

SNV
Germline

Chr17:43093045

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10597029

rs_2053753019

2 SubmittersRCV001224782 RCV003158547

NM_007294.4(BRCA1):c.2432C>G (p.Pro811Arg)

SNV
Germline

Chr17:43093099

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10597144

rs_2053761478

2 SubmittersRCV001224550 RCV003158546

NM_007294.4(BRCA1):c.2407A>G (p.Ser803Gly)

SNV
Germline

Chr17:43093124

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Low grade glioma

Criteria Provided
Conflicting Classifications

CA10597195

rs_2053766204

3 SubmittersRCV001215911 RCV003158507 RCV006454720

NM_007294.4(BRCA1):c.2363T>A (p.Val788Asp)

SNV
Germline

Chr17:43093168

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10597283

rs_2053773275

2 SubmittersRCV001216013 RCV003158508

NM_007294.4(BRCA1):c.2246A>G (p.Asp749Gly)

SNV
Germline

Chr17:43093285

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA058707

rs_730881479

2 SubmittersRCV001218881 RCV003158522

NM_007294.4(BRCA1):c.2221T>C (p.Ser741Pro)

SNV
Germline

Chr17:43093310

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10597557

rs_2053800581

2 SubmittersRCV001215618 RCV003158504

NM_007294.4(BRCA1):c.1876G>A (p.Val626Ile)

SNV
Germline

Chr17:43093655

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10598269

rs_2053869047

2 SubmittersRCV003158517 RCV001217671

NM_007294.4(BRCA1):c.1862A>G (p.His621Arg)

SNV
Germline

Chr17:43093669

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10598294

rs_2053871006

2 SubmittersRCV001222675 RCV003158537

NM_007294.4(BRCA1):c.1781T>C (p.Met594Thr)

SNV
Germline

Chr17:43093750

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10598459

rs_2053884703

3 SubmittersRCV001221601 RCV003158530

NM_007294.4(BRCA1):c.1663A>G (p.Asn555Asp)

SNV
Germline

Chr17:43093868

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10598709

rs_2053904001

2 SubmittersRCV001215600 RCV003158503

NM_007294.4(BRCA1):c.1651A>C (p.Ser551Arg)

SNV
Germline

Chr17:43093880

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10598733

rs_730881472

3 SubmittersRCV001222674 RCV003158536

NM_007294.4(BRCA1):c.1265A>G (p.Tyr422Cys)

SNV
Germline

Chr17:43094266

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified

Criteria Provided
Conflicting Classifications

CA10599525

rs_1567800230

3 SubmittersRCV001224795 RCV003158548 RCV006269339

NM_007294.4(BRCA1):c.1094G>A (p.Arg365Lys)

SNV
Germline

Chr17:43094437

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10599872

rs_2053994698

3 SubmittersRCV001219425 RCV003158526

NM_007294.4(BRCA1):c.974A>C (p.Lys325Thr)

SNV
Germline

Chr17:43094557

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10600114

rs_2054013870

2 SubmittersRCV001219277 RCV003158525

NM_007294.4(BRCA1):c.575A>G (p.Asn192Ser)

SNV
Germline

Chr17:43097262

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA10600975

rs_2054178411

3 SubmittersRCV001217608 RCV001524004 RCV004034038

NM_001844.5(COL2A1):c.578G>A (p.Gly193Asp)

SNV
Germline

Chr12:47996579

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary breast ovarian cancer syndrome
COL2A1-related disorder

Criteria Provided
Conflicting Classifications

CA6535882

rs_764878166

4 SubmittersRCV001212399 RCV001374535 RCV004734052

NM_000059.4(BRCA2):c.991A>G (p.Lys331Glu)

SNV
Germline

Chr13:32332469

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387761002

rs_2072402052

2 SubmittersRCV001208883 RCV003158479

NM_000059.4(BRCA2):c.1411G>A (p.Glu471Lys)

SNV
Germline

Chr13:32332889

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
BRCA2-related disorder

Criteria Provided
Conflicting Classifications

CA387764191

rs_80358428

4 SubmittersRCV001204054 RCV003158458 RCV003483786

NM_000059.4(BRCA2):c.1499G>A (p.Gly500Asp)

SNV
Germline

Chr13:32332977

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387764482

rs_1064795525

3 SubmittersRCV001213280 RCV002393487

NM_000059.4(BRCA2):c.1521A>C (p.Arg507Ser)

SNV
Germline

Chr13:32332999

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387764557

rs_2072415404

2 SubmittersRCV001210401 RCV003158487

NM_000059.4(BRCA2):c.1525A>G (p.Arg509Gly)

SNV
Germline

Chr13:32333003

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387764571

rs_2072415459

2 SubmittersRCV001210274 RCV003158486

NM_000059.4(BRCA2):c.1672A>G (p.Ile558Val)

SNV
Germline

Chr13:32333150

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Malignant tumor of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA6940533

rs_759415233

3 SubmittersRCV001210478 RCV001354726 RCV003158488

NM_000059.4(BRCA2):c.1787A>T (p.Asp596Val)

SNV
Germline

Chr13:32333265

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA387765738

rs_2072422145

3 SubmittersRCV001210583 RCV003158489 RCV004803566

NM_000059.4(BRCA2):c.1804G>T (p.Gly602Ter)

SNV
Germline

Chr13:32333282

Pathogenic/Likely pathogenic

Hereditary breast ovarian cancer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA387765889

rs_80358466

2 SubmittersRCV001212973

NM_000059.4(BRCA2):c.1895C>T (p.Ala632Val)

SNV
Germline

Chr13:32333373

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387766787

rs_876659192

2 SubmittersRCV001208817 RCV003158478

NM_000059.4(BRCA2):c.1921T>G (p.Ser641Ala)

SNV
Germline

Chr13:32336276

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387768255

rs_2072446928

2 SubmittersRCV001207935 RCV003158476

NM_000059.4(BRCA2):c.2102T>C (p.Phe701Ser)

SNV
Germline

Chr13:32336457

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA387769918

rs_1045996745

3 SubmittersRCV001207811 RCV003158475 RCV006250962

NM_000059.4(BRCA2):c.2180C>T (p.Ser727Leu)

SNV
Germline

Chr13:32336535

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387770367

rs_2072451958

2 SubmittersRCV001201920 RCV003158451

NM_000059.4(BRCA2):c.2195A>C (p.Glu732Ala)

SNV
Germline

Chr13:32336550

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387770468

rs_1456382766

2 SubmittersRCV003158459 RCV001204823

NM_000059.4(BRCA2):c.2204C>G (p.Ala735Gly)

SNV
Germline

Chr13:32336559

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387770535

rs_2072452438

2 SubmittersRCV001206637 RCV003158468

NM_000059.4(BRCA2):c.2255A>G (p.Asp752Gly)

SNV
Germline

Chr13:32336610

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387770932

rs_2072453670

2 SubmittersRCV001206421 RCV003158465

NM_000059.4(BRCA2):c.2424A>T (p.Glu808Asp)

SNV
Germline

Chr13:32336779

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA247502219

rs_55646808

3 SubmittersRCV001210851 RCV003158490 RCV004803567

NM_000059.4(BRCA2):c.2768A>G (p.Lys923Arg)

SNV
Germline

Chr13:32337123

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387773678

rs_2072464367

3 SubmittersRCV005601705 RCV003158464 RCV001205501

NM_000059.4(BRCA2):c.2991A>T (p.Leu997Phe)

SNV
Germline

Chr13:32337346

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387774609

rs_2072469915

2 SubmittersRCV001207319 RCV003158473

NM_000059.4(BRCA2):c.3347C>T (p.Thr1116Ile)

SNV
Germline

Chr13:32337702

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387776332

rs_2072478227

2 SubmittersRCV001210074 RCV003158484

NM_000059.4(BRCA2):c.3434C>G (p.Pro1145Arg)

SNV
Germline

Chr13:32337789

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387776591

rs_431825306

3 SubmittersRCV001202110 RCV003158453

NM_000059.4(BRCA2):c.3543A>C (p.Gln1181His)

SNV
Germline

Chr13:32337898

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387777170

rs_2072483286

2 SubmittersRCV001202037 RCV003158452

NM_000059.4(BRCA2):c.3610G>A (p.Ala1204Thr)

SNV
Germline

Chr13:32337965

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387777539

rs_1555283309

3 SubmittersRCV001206670 RCV002451440

NM_000059.4(BRCA2):c.3797A>G (p.His1266Arg)

SNV
Germline

Chr13:32338152

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA387778398

rs_1555283399

6 SubmittersRCV001207278 RCV002365936 RCV002298904 RCV004010661

NM_000059.4(BRCA2):c.3902C>A (p.Thr1301Asn)

SNV
Germline

Chr13:32338257

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387778794

rs_1455648880

2 SubmittersRCV001212872 RCV003158494

NM_000059.4(BRCA2):c.3902C>G (p.Thr1301Ser)

SNV
Germline

Chr13:32338257

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Malignant tumor of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387778795

rs_1455648880

3 SubmittersRCV001204935 RCV001354573 RCV003158461

NM_000059.4(BRCA2):c.4118T>G (p.Met1373Arg)

SNV
Germline

Chr13:32338473

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA6940750

rs_750581150

3 SubmittersRCV001202124 RCV003158454 RCV003493819

NM_000059.4(BRCA2):c.4325C>T (p.Ser1442Leu)

SNV
Germline

Chr13:32338680

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA387780833

rs_80358670

3 SubmittersRCV001202653 RCV003158455 RCV004010622

NM_000059.4(BRCA2):c.4487C>T (p.Pro1496Leu)

SNV
Germline

Chr13:32338842

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387781533

rs_2072505667

3 SubmittersRCV001212743 RCV002327493

NM_000059.4(BRCA2):c.4613C>T (p.Ser1538Phe)

SNV
Germline

Chr13:32338968

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
8 conditions
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA6940798

rs_754643404

6 SubmittersRCV001213012 RCV002339551 RCV005005080 RCV004803568

NM_000059.4(BRCA2):c.4741G>C (p.Glu1581Gln)

SNV
Germline

Chr13:32339096

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6940809

rs_368952892

5 SubmittersRCV001212351 RCV002327491 RCV004761984

NM_000059.4(BRCA2):c.4945A>G (p.Lys1649Glu)

SNV
Germline

Chr13:32339300

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA6940831

rs_763743962

3 SubmittersRCV001211056 RCV003158491

NM_000059.4(BRCA2):c.4970A>C (p.Asn1657Thr)

SNV
Germline

Chr13:32339325

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387783824

rs_1060502382

2 SubmittersRCV001209940 RCV003158483

NM_000059.4(BRCA2):c.5060T>G (p.Leu1687Arg)

SNV
Germline

Chr13:32339415

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387784040

rs_2072519361

2 SubmittersRCV001208945 RCV003158480

NM_000059.4(BRCA2):c.5111G>T (p.Arg1704Ile)

SNV
Germline

Chr13:32339466

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA387784139

rs_2072520513

3 SubmittersRCV001206761 RCV003158469 RCV004010652

NM_000059.4(BRCA2):c.5852G>A (p.Ser1951Asn)

SNV
Germline

Chr13:32340207

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387787397

rs_2072540017

2 SubmittersRCV001204904 RCV003158460

NM_000059.4(BRCA2):c.5971G>A (p.Ala1991Thr)

SNV
Germline

Chr13:32340326

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified

Criteria Provided
Conflicting Classifications

CA387787627

rs_2072543048

4 SubmittersRCV001206768 RCV003158470 RCV006453578

NM_000059.4(BRCA2):c.6069C>G (p.Asp2023Glu)

SNV
Germline

Chr13:32340424

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA387787962

rs_2072545456

3 SubmittersRCV001207309 RCV003158472 RCV004803564

NM_000059.4(BRCA2):c.6278A>C (p.His2093Pro)

SNV
Germline

Chr13:32340633

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387788984

rs_1218113889

3 SubmittersRCV001202763 RCV001806041

NM_000059.4(BRCA2):c.6286C>A (p.Pro2096Thr)

SNV
Germline

Chr13:32340641

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387789002

rs_1309257585

2 SubmittersRCV001205243 RCV003158463

NM_000059.4(BRCA2):c.6389T>G (p.Phe2130Cys)

SNV
Germline

Chr13:32340744

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387789210

rs_2072554002

5 SubmittersRCV001211650 RCV001586053 RCV001525351

NM_000059.4(BRCA2):c.6549A>T (p.Glu2183Asp)

SNV
Germline

Chr13:32340904

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA387789775

rs_2072559314

4 SubmittersRCV001206498 RCV003158466 RCV004010648

NM_000059.4(BRCA2):c.6556T>A (p.Ser2186Thr)

SNV
Germline

Chr13:32340911

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
not specified

Criteria Provided
Conflicting Classifications

CA387789823

rs_2072559530

7 SubmittersRCV001209383 RCV002265008 RCV002365943 RCV004010673 RCV005408750

NM_000059.4(BRCA2):c.7736T>C (p.Ile2579Thr)

SNV
Germline

Chr13:32357860

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387745598

rs_2072710157

2 SubmittersRCV001202010 RCV002402572

NM_000059.4(BRCA2):c.7906T>C (p.Cys2636Arg)

SNV
Germline

Chr13:32362623

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387747159

rs_2072747182

2 SubmittersRCV001210375 RCV002418712

NM_000059.4(BRCA2):c.8777T>G (p.Leu2926Ter)

SNV
Germline

Chr13:32379339

Pathogenic

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA387755837

rs_886040791

2 SubmittersRCV001210794 RCV002375159

NM_000059.4(BRCA2):c.8783C>A (p.Ala2928Asp)

SNV
Germline

Chr13:32379345

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387755869

rs_2072898017

2 SubmittersRCV001203885 RCV005782105

NM_000059.4(BRCA2):c.9678T>A (p.Tyr3226Ter)

SNV
Germline

Chr13:32398191

Pathogenic/Likely pathogenic

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA387765230

rs_2073049381

4 SubmittersRCV001206017 RCV002375140 RCV003480990

NM_007294.4(BRCA1):c.4606G>T (p.Glu1536Ter)

SNV
Germline

Chr17:43074400

Pathogenic

Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA10592301

rs_876660460

3 SubmittersRCV001204590 RCV004998720 RCV005782106

NM_007294.4(BRCA1):c.4038A>C (p.Glu1346Asp)

SNV
Germline

Chr17:43091493

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10593882

rs_2053480824

2 SubmittersRCV003158462 RCV001205160

NM_007294.4(BRCA1):c.3926A>G (p.Asn1309Ser)

SNV
Germline

Chr17:43091605

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10594108

rs_2053499342

2 SubmittersRCV001212411 RCV003158493

NM_007294.4(BRCA1):c.3674G>A (p.Cys1225Tyr)

SNV
Germline

Chr17:43091857

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10594621

rs_1567790638

4 SubmittersRCV001208979 RCV002348682 RCV005401802

NM_007294.4(BRCA1):c.3579C>G (p.Phe1193Leu)

SNV
Germline

Chr17:43091952

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10594803

rs_2053562704

2 SubmittersRCV001207452 RCV003158474

NM_007294.4(BRCA1):c.3554A>G (p.Glu1185Gly)

SNV
Germline

Chr17:43091977

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10594857

rs_2053566295

2 SubmittersRCV001206504 RCV003158467

NM_007294.4(BRCA1):c.3166T>G (p.Ser1056Ala)

SNV
Germline

Chr17:43092365

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10595652

rs_876659601

3 SubmittersRCV001209804 RCV002322025

NM_007294.4(BRCA1):c.3028C>A (p.Pro1010Thr)

SNV
Germline

Chr17:43092503

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10595938

rs_1057519249

2 SubmittersRCV001202772 RCV003158456

NM_007294.4(BRCA1):c.2672C>A (p.Ser891Tyr)

SNV
Germline

Chr17:43092859

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10596654

rs_2053717743

2 SubmittersRCV001212219 RCV003158492

NM_007294.4(BRCA1):c.2608G>C (p.Ala870Pro)

SNV
Germline

Chr17:43092923

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
not specified
Condition: not provided
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA10596779

rs_753256448

8 SubmittersRCV001206620 RCV001255590 RCV001760171 RCV002429883 RCV003316832

NM_007294.4(BRCA1):c.2482G>C (p.Gly828Arg)

SNV
Germline

Chr17:43093049

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10597039

rs_80357185

2 SubmittersRCV001203169 RCV003158457

NM_007294.4(BRCA1):c.2005A>G (p.Met669Val)

SNV
Germline

Chr17:43093526

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Fanconi anemia, complementation group S
Breast-ovarian cancer, familial, susceptibility to, 1
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA057693

rs_561988641

6 SubmittersRCV001201414 RCV001528872 RCV003158450 RCV005359929

NM_007294.4(BRCA1):c.1843T>G (p.Ser615Ala)

SNV
Germline

Chr17:43093688

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10598331

rs_1384752453

3 SubmittersRCV001208469 RCV003158477

NM_007294.4(BRCA1):c.1658A>G (p.His553Arg)

SNV
Germline

Chr17:43093873

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
not specified
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA057442

rs_748431827

4 SubmittersRCV001213831 RCV001732072 RCV003158496

NM_007294.4(BRCA1):c.1570G>A (p.Ala524Thr)

SNV
Germline

Chr17:43093961

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA057366

rs_761178502

2 SubmittersRCV001210202 RCV003158485

NM_007294.4(BRCA1):c.1567T>G (p.Leu523Val)

SNV
Germline

Chr17:43093964

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA057352

rs_754398271

5 SubmittersRCV001206370 RCV002402598 RCV004998722

NM_007294.4(BRCA1):c.1009G>C (p.Glu337Gln)

SNV
Germline

Chr17:43094522

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10600044

rs_2054008789

4 SubmittersRCV001209608 RCV003158482

NM_007294.4(BRCA1):c.970A>G (p.Ser324Gly)

SNV
Germline

Chr17:43094561

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10600124

rs_2054014425

2 SubmittersRCV001213070 RCV003158495

NM_000059.4(BRCA2):c.-40+1G>A

SNV
Germline

Chr13:32315668

Likely pathogenic

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
BRCA2-related cancer predisposition

Reviewed By Expert Panel

CA1139663040

rs_2072249096

4 SubmittersRCV001209736 RCV003163590 RCV005359944

NM_000059.4(BRCA2):c.1909+4C>A

SNV
Germline

Chr13:32333391

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA1139663126

rs_768978701

4 SubmittersRCV001203826 RCV002411747 RCV003316831

NM_000059.4(BRCA2):c.8754+5G>C

SNV
Germline

Chr13:32376796

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1139663185

rs_81002813

3 SubmittersRCV001209759 RCV002375153 RCV003478734

NM_000059.4(BRCA2):c.6938-1G>C

SNV
Germline

Chr13:32346826

Pathogenic/Likely pathogenic

Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Multiple Submitters
No Conflicts

CA387792964

rs_886040936

3 SubmittersRCV001216246 RCV001780136 RCV005866867

NM_000059.4(BRCA2):c.916G>A (p.Asp306Asn)

SNV
Germline

Chr13:32332394

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA6940475

rs_781169306

3 SubmittersRCV001226613 RCV002375224

NM_000059.4(BRCA2):c.1001A>T (p.His334Leu)

SNV
Germline

Chr13:32332479

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387761053

rs_587782016

2 SubmittersRCV003158591 RCV001236605

NM_000059.4(BRCA2):c.1184G>T (p.Trp395Leu)

SNV
Germline

Chr13:32332662

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387761999

rs_886040347

4 SubmittersRCV003158593 RCV004004869 RCV001236953

NM_000059.4(BRCA2):c.1291A>G (p.Thr431Ala)

SNV
Germline

Chr13:32332769

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387762481

rs_864622399

2 SubmittersRCV003158590 RCV001236245

NM_000059.4(BRCA2):c.1515A>G (p.Ile505Met)

SNV
Germline

Chr13:32332993

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387764536

rs_1049893722

3 SubmittersRCV001237936 RCV003158594

NM_000059.4(BRCA2):c.1703C>T (p.Thr568Ile)

SNV
Germline

Chr13:32333181

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Familial colorectal cancer type X

Criteria Provided
Conflicting Classifications

CA387765254

rs_2072420088

4 SubmittersRCV001226846 RCV001526295 RCV005359971

NM_000059.4(BRCA2):c.1918C>A (p.His640Asn)

SNV
Germline

Chr13:32336273

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA387768239

rs_2072446918

4 SubmittersRCV001225934 RCV002411834 RCV003493825

NM_000059.4(BRCA2):c.2305C>T (p.Leu769Phe)

SNV
Germline

Chr13:32336660

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA387771348

rs_2072454785

4 SubmittersRCV002447185 RCV001237292 RCV001800974

NM_000059.4(BRCA2):c.2315C>G (p.Thr772Ser)

SNV
Germline

Chr13:32336670

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387771427

rs_1064794522

2 SubmittersRCV003158579 RCV001231940

NM_000059.4(BRCA2):c.2384C>G (p.Ser795Ter)

SNV
Germline

Chr13:32336739

Pathogenic

Hereditary breast ovarian cancer syndrome

Criteria Provided
Single Submitter

CA387771865

rs_2072456490

1 SubmittersRCV001236416

NM_000059.4(BRCA2):c.2444T>A (p.Met815Lys)

SNV
Germline

Chr13:32336799

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387772237

rs_1303254121

2 SubmittersRCV003158575 RCV001229825

NM_000059.4(BRCA2):c.2696A>G (p.Asn899Ser)

SNV
Germline

Chr13:32337051

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387773479

rs_2072463113

2 SubmittersRCV001228884 RCV003158569

NM_000059.4(BRCA2):c.2717C>T (p.Thr906Ile)

SNV
Germline

Chr13:32337072

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387773560

rs_2072463461

2 SubmittersRCV001225382 RCV003158551

NM_000059.4(BRCA2):c.2941A>G (p.Lys981Glu)

SNV
Germline

Chr13:32337296

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA387774314

rs_2072468449

3 SubmittersRCV001229305 RCV003158572 RCV003234792

NM_000059.4(BRCA2):c.3050T>C (p.Ile1017Thr)

SNV
Germline

Chr13:32337405

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
BRCA2-related cancer predisposition
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387775034

rs_2072470949

3 SubmittersRCV003158564 RCV004803585 RCV001228374

NM_000059.4(BRCA2):c.3191C>T (p.Ser1064Leu)

SNV
Germline

Chr13:32337546

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387775846

rs_864622609

2 SubmittersRCV001226248 RCV003158553

NM_000059.4(BRCA2):c.3236C>T (p.Ser1079Phe)

SNV
Germline

Chr13:32337591

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387775935

rs_2072475650

3 SubmittersRCV001233454 RCV003158582

NM_000059.4(BRCA2):c.3412C>A (p.Gln1138Lys)

SNV
Germline

Chr13:32337767

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387776492

rs_587782613

2 SubmittersRCV003158583 RCV001233514

NM_000059.4(BRCA2):c.3424T>C (p.Phe1142Leu)

SNV
Germline

Chr13:32337779

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA387776533

rs_2072480095

4 SubmittersRCV001227125 RCV003158558 RCV004783929

NM_000059.4(BRCA2):c.3634A>G (p.Asn1212Asp)

SNV
Germline

Chr13:32337989

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA387777918

rs_2072485059

3 SubmittersRCV003158562 RCV001227865 RCV001586072

NM_000059.4(BRCA2):c.3671G>A (p.Gly1224Asp)

SNV
Germline

Chr13:32338026

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA387777993

rs_587782670

5 SubmittersRCV001231228 RCV003158577 RCV005432622 RCV001800972

NM_000059.4(BRCA2):c.3822G>C (p.Lys1274Asn)

SNV
Germline

Chr13:32338177

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387778491

rs_1555283410

3 SubmittersRCV001227600 RCV003158560

NM_000059.4(BRCA2):c.3907G>A (p.Gly1303Ser)

SNV
Germline

Chr13:32338262

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387778799

rs_2072491499

2 SubmittersRCV003158565 RCV001228490

NM_000059.4(BRCA2):c.4197T>A (p.Cys1399Ter)

SNV
Germline

Chr13:32338552

Pathogenic

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Multiple Submitters
No Conflicts

CA387780191

rs_1339703491

3 SubmittersRCV001226711 RCV002327540 RCV004004815

NM_000059.4(BRCA2):c.4234A>C (p.Thr1412Pro)

SNV
Germline

Chr13:32338589

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387780361

rs_2072499447

3 SubmittersRCV003158561 RCV001227720

NM_000059.4(BRCA2):c.4297G>T (p.Gly1433Trp)

SNV
Germline

Chr13:32338652

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA247507454

rs_1036091086

3 SubmittersRCV003158585 RCV001233828

NM_000059.4(BRCA2):c.4311T>G (p.Ser1437Arg)

SNV
Germline

Chr13:32338666

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387780787

rs_1228813196

2 SubmittersRCV003158566 RCV001228632

NM_000059.4(BRCA2):c.4321G>A (p.Glu1441Lys)

SNV
Germline

Chr13:32338676

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387780820

rs_876659758

4 SubmittersRCV001236874 RCV002327569

NM_000059.4(BRCA2):c.4803T>G (p.Asp1601Glu)

SNV
Germline

Chr13:32339158

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387783262

rs_772234613

3 SubmittersRCV003158580 RCV001232096

NM_000059.4(BRCA2):c.5039C>T (p.Ser1680Phe)

SNV
Germline

Chr13:32339394

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387783997

rs_1555284041

3 SubmittersRCV001227363 RCV003158559

NM_000059.4(BRCA2):c.5317G>T (p.Glu1773Ter)

SNV
Germline

Chr13:32339672

Pathogenic

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA387784880

rs_1566232201

3 SubmittersRCV001238188 RCV002348807

NM_000059.4(BRCA2):c.5530T>A (p.Phe1844Ile)

SNV
Germline

Chr13:32339885

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387785912

rs_2072531391

2 SubmittersRCV001228995 RCV003158571

NM_000059.4(BRCA2):c.5791C>G (p.Gln1931Glu)

SNV
Germline

Chr13:32340146

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA387787175

rs_80358807

4 SubmittersRCV001228751 RCV003158568 RCV005432621

NM_000059.4(BRCA2):c.5843G>A (p.Cys1948Tyr)

SNV
Germline

Chr13:32340198

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA6940906

rs_757148516

3 SubmittersRCV001238093 RCV003158595

NM_000059.4(BRCA2):c.5971G>C (p.Ala1991Pro)

SNV
Germline

Chr13:32340326

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA387787626

rs_2072543048

3 SubmittersRCV001226312 RCV003158554 RCV004998747

NM_000059.4(BRCA2):c.6265G>A (p.Glu2089Lys)

SNV
Germline

Chr13:32340620

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387788957

rs_2072550502

2 SubmittersRCV003158581 RCV001232437

NM_000059.4(BRCA2):c.6323G>C (p.Arg2108Pro)

SNV
Germline

Chr13:32340678

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387789068

rs_35029074

4 SubmittersRCV001231884 RCV003158578

NM_000059.4(BRCA2):c.6451G>A (p.Val2151Ile)

SNV
Germline

Chr13:32340806

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387789331

rs_1164384033

2 SubmittersRCV001234566 RCV003158586

NM_000059.4(BRCA2):c.6470A>G (p.Gln2157Arg)

SNV
Germline

Chr13:32340825

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387789394

rs_1456778960

4 SubmittersRCV001237654 RCV001751468 RCV002366048

NM_000059.4(BRCA2):c.6483C>A (p.Asp2161Glu)

SNV
Germline

Chr13:32340838

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387789453

rs_2072557146

3 SubmittersRCV001231010 RCV002356992

NM_000059.4(BRCA2):c.7664A>G (p.Lys2555Arg)

SNV
Germline

Chr13:32357788

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387745008

rs_2072708691

2 SubmittersRCV001229195 RCV005782119

NM_000059.4(BRCA2):c.7690A>C (p.Thr2564Pro)

SNV
Germline

Chr13:32357814

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA387745185

rs_2072709406

4 SubmittersRCV001226925 RCV004697080 RCV005232192

NM_000059.4(BRCA2):c.7900A>G (p.Met2634Val)

SNV
Germline

Chr13:32362617

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387747144

rs_1207483065

3 SubmittersRCV002250734 RCV001231392 RCV002418793

NM_000059.4(BRCA2):c.8492T>C (p.Met2831Thr)

SNV
Germline

Chr13:32370960

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387752665

rs_1384628074

3 SubmittersRCV001234805 RCV004004856 RCV006372318

NM_000059.4(BRCA2):c.9188C>G (p.Pro3063Arg)

SNV
Germline

Chr13:32380077

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387758165

rs_2072913701

2 SubmittersRCV001236104 RCV002375249

NM_000059.4(BRCA2):c.9614C>T (p.Ala3205Val)

SNV
Germline

Chr13:32397010

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
BRCA2-related cancer predisposition
not specified
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA6941417

rs_546682485

5 SubmittersRCV001354404 RCV002379905 RCV004803590 RCV006274164 RCV005208696

NM_007294.4(BRCA1):c.4516G>A (p.Asp1506Asn)

SNV
Germline

Chr17:43074490

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10592495

rs_2052614346

2 SubmittersRCV001227201 RCV003284083

NM_007294.4(BRCA1):c.3997G>T (p.Val1333Phe)

SNV
Germline

Chr17:43091534

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10593967

rs_2053487730

2 SubmittersRCV001236904 RCV003158592

NM_007294.4(BRCA1):c.3895C>G (p.Gln1299Glu)

SNV
Germline

Chr17:43091636

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10594174

rs_80357038

2 SubmittersRCV001230912 RCV003158576

NM_007294.4(BRCA1):c.3655G>C (p.Glu1219Gln)

SNV
Germline

Chr17:43091876

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10594661

rs_80356921

2 SubmittersRCV001234952 RCV003158587

NM_007294.4(BRCA1):c.3590A>G (p.His1197Arg)

SNV
Germline

Chr17:43091941

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10594784

rs_2053559788

3 SubmittersRCV001229331 RCV002451538

NM_007294.4(BRCA1):c.3448C>A (p.Pro1150Thr)

SNV
Germline

Chr17:43092083

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10595088

rs_80357272

2 SubmittersRCV001226007 RCV003158552

NM_007294.4(BRCA1):c.3442G>A (p.Glu1148Lys)

SNV
Germline

Chr17:43092089

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10595101

rs_886038012

2 SubmittersRCV003158573 RCV001229494

NM_007294.4(BRCA1):c.3417T>G (p.Ser1139Arg)

SNV
Germline

Chr17:43092114

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10595147

rs_2053590409

2 SubmittersRCV001228963 RCV003158570

NM_007294.4(BRCA1):c.3135T>G (p.Asn1045Lys)

SNV
Germline

Chr17:43092396

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10595712

rs_2053637366

2 SubmittersRCV001226829 RCV003158556

NM_007294.4(BRCA1):c.3020C>A (p.Ser1007Ter)

SNV
Germline

Chr17:43092511

Pathogenic

Condition: not provided
Hereditary breast ovarian cancer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA10595951

rs_80357168

2 SubmittersRCV004727008 RCV001228447

NM_007294.4(BRCA1):c.2684A>C (p.Gln895Pro)

SNV
Germline

Chr17:43092847

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10596632

rs_587781914

3 SubmittersRCV001231012 RCV002451544

NM_007294.4(BRCA1):c.2646T>G (p.Cys882Trp)

SNV
Germline

Chr17:43092885

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10596701

rs_2053723557

2 SubmittersRCV003158574 RCV001229736

NM_007294.4(BRCA1):c.2624C>G (p.Pro875Arg)

SNV
Germline

Chr17:43092907

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10596745

rs_867654871

3 SubmittersRCV001238594 RCV003158597

NM_007294.4(BRCA1):c.2471A>T (p.Asn824Ile)

SNV
Germline

Chr17:43093060

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10597060

rs_1485586275

3 SubmittersRCV002451577 RCV001238090

NM_007294.4(BRCA1):c.2301C>A (p.Ser767Arg)

SNV
Germline

Chr17:43093230

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10597399

rs_2053785413

2 SubmittersRCV001228271 RCV003158563

NM_007294.4(BRCA1):c.2200A>G (p.Lys734Glu)

SNV
Germline

Chr17:43093331

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10597598

rs_2053806415

2 SubmittersRCV003158567 RCV001228721

NM_007294.4(BRCA1):c.2140A>C (p.Asn714His)

SNV
Germline

Chr17:43093391

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10597726

rs_568312345

3 SubmittersRCV001238517 RCV002430019

NM_007294.4(BRCA1):c.1825A>T (p.Asn609Tyr)

SNV
Germline

Chr17:43093706

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10598364

rs_2053878598

2 SubmittersRCV003158584 RCV001233565

NM_007294.4(BRCA1):c.1573G>C (p.Val525Leu)

SNV
Germline

Chr17:43093958

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10598901

rs_80357273

3 SubmittersRCV002402711 RCV001227431

NM_007294.4(BRCA1):c.1351T>G (p.Ser451Ala)

SNV
Germline

Chr17:43094180

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10599345

rs_2053952551

2 SubmittersRCV003158589 RCV001235619

NM_007294.4(BRCA1):c.1294C>A (p.Leu432Met)

SNV
Germline

Chr17:43094237

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10599466

rs_864622454

3 SubmittersRCV001234969 RCV003158588

NM_007294.4(BRCA1):c.1192T>G (p.Ser398Ala)

SNV
Germline

Chr17:43094339

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10599664

rs_2053980032

3 SubmittersRCV001227078 RCV003158557

NM_007294.4(BRCA1):c.1006A>G (p.Thr336Ala)

SNV
Germline

Chr17:43094525

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10600050

rs_2054009524

2 SubmittersRCV001226417 RCV003158555

NM_007294.4(BRCA1):c.844T>C (p.Ser282Pro)

SNV
Germline

Chr17:43094687

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10600394

rs_2054037292

2 SubmittersRCV003158596 RCV001238386

NM_007294.4(BRCA1):c.592A>G (p.Ser198Gly)

SNV
Germline

Chr17:43097245

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10600935

rs_2054176940

4 SubmittersRCV001234903 RCV005232198 RCV005245799 RCV002357009

NM_007294.4(BRCA1):c.328A>T (p.Lys110Ter)

SNV
Germline

Chr17:43104235

Pathogenic

Hereditary breast ovarian cancer syndrome

Criteria Provided
Single Submitter

CA10601490

rs_878854946

1 SubmittersRCV001237020

NM_000314.8(PTEN):c.397G>A (p.Val133Ile)

SNV
Germline

Chr10:87933156

Conflicting classifications of pathogenicity

PTEN hamartoma tumor syndrome
Condition: not provided
PTEN-related disorder
Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA377482329

rs_1859977307

7 SubmittersRCV001247012 RCV002265016 RCV004734078 RCV006424753 RCV005232215 RCV006261703

NM_000059.4(BRCA2):c.895G>A (p.Val299Ile)

SNV
Germline

Chr13:32332373

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387760667

rs_2072399652

3 SubmittersRCV001246440 RCV003158621

NM_000059.4(BRCA2):c.994A>G (p.Ile332Val)

SNV
Germline

Chr13:32332472

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387761013

rs_2072402170

2 SubmittersRCV001246971 RCV003158623

NM_000059.4(BRCA2):c.1604C>G (p.Ala535Gly)

SNV
Germline

Chr13:32333082

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387764847

rs_1593893344

2 SubmittersRCV001241703 RCV003158607

NM_000059.4(BRCA2):c.2260C>G (p.Gln754Glu)

SNV
Germline

Chr13:32336615

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA387770998

rs_80358496

4 SubmittersRCV001241490 RCV002447201 RCV005601724

NM_000059.4(BRCA2):c.2701C>A (p.Leu901Ile)

SNV
Germline

Chr13:32337056

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387773498

rs_2072463186

2 SubmittersRCV001241443 RCV003158605

NM_000059.4(BRCA2):c.2855C>G (p.Ala952Gly)

SNV
Germline

Chr13:32337210

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387773948

rs_761934778

2 SubmittersRCV001246173 RCV003158618

NM_000059.4(BRCA2):c.2966A>T (p.Tyr989Phe)

SNV
Germline

Chr13:32337321

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387774500

rs_2072469321

2 SubmittersRCV001241521 RCV003158606

NM_000059.4(BRCA2):c.3241T>A (p.Cys1081Ser)

SNV
Germline

Chr13:32337596

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387775945

rs_1555283117

3 SubmittersRCV001247752 RCV003158627

NM_000059.4(BRCA2):c.3491T>C (p.Leu1164Pro)

SNV
Germline

Chr13:32337846

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387776909

rs_746847103

2 SubmittersRCV001243264 RCV003158610

NM_000059.4(BRCA2):c.3514T>A (p.Ser1172Thr)

SNV
Germline

Chr13:32337869

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA387777014

rs_1593899773

3 SubmittersRCV001248169 RCV003158629 RCV004004913

NM_000059.4(BRCA2):c.3599G>C (p.Cys1200Ser)

SNV
Germline

Chr13:32337954

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387777491

rs_1555283305

3 SubmittersRCV001247241 RCV002451609

NM_000059.4(BRCA2):c.3706A>C (p.Lys1236Gln)

SNV
Germline

Chr13:32338061

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387778056

rs_1555283367

2 SubmittersRCV001244473 RCV003158613

NM_000059.4(BRCA2):c.3861T>A (p.Asn1287Lys)

SNV
Germline

Chr13:32338216

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387778663

rs_2072490377

2 SubmittersRCV001241724 RCV003158608

NM_000059.4(BRCA2):c.3911C>T (p.Thr1304Ile)

SNV
Germline

Chr13:32338266

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387778807

rs_1555283472

2 SubmittersRCV001241218 RCV003158604

NM_000059.4(BRCA2):c.4274A>T (p.Asp1425Val)

SNV
Germline

Chr13:32338629

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387780575

rs_398122780

3 SubmittersRCV001240260 RCV002327579

NM_000059.4(BRCA2):c.4289C>G (p.Thr1430Ser)

SNV
Germline

Chr13:32338644

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387780656

rs_876659247

2 SubmittersRCV001242728 RCV003158609

NM_000059.4(BRCA2):c.4461A>C (p.Lys1487Asn)

SNV
Germline

Chr13:32338816

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387781412

rs_786201350

2 SubmittersRCV001240751 RCV003158601

NM_000059.4(BRCA2):c.4829T>A (p.Val1610Glu)

SNV
Germline

Chr13:32339184

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
not specified
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387783316

rs_2072513765

3 SubmittersRCV001244016 RCV001819946 RCV003158612

NM_000059.4(BRCA2):c.5011T>G (p.Phe1671Val)

SNV
Germline

Chr13:32339366

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA387783944

rs_2072518231

3 SubmittersRCV001247484 RCV003158625 RCV004004911

NM_000059.4(BRCA2):c.5227A>G (p.Ser1743Gly)

SNV
Germline

Chr13:32339582

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387784652

rs_397507348

3 SubmittersRCV001239836 RCV003158598

NM_000059.4(BRCA2):c.5407A>G (p.Thr1803Ala)

SNV
Germline

Chr13:32339762

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA6940869

rs_769627725

3 SubmittersRCV001247305 RCV002348843

NM_000059.4(BRCA2):c.5474C>G (p.Ala1825Gly)

SNV
Germline

Chr13:32339829

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
not specified

Criteria Provided
Conflicting Classifications

CA387785694

rs_397507352

4 SubmittersRCV001246573 RCV003158622 RCV003493831 RCV003493832

NM_000059.4(BRCA2):c.5705A>G (p.Asp1902Gly)

SNV
Germline

Chr13:32340060

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387786746

rs_2072536350

3 SubmittersRCV001245899 RCV003158617

NM_000059.4(BRCA2):c.6235G>C (p.Val2079Leu)

SNV
Germline

Chr13:32340590

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387788899

rs_886037812

3 SubmittersRCV001245212 RCV003158615

NM_000059.4(BRCA2):c.6574A>G (p.Met2192Val)

SNV
Germline

Chr13:32340929

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA247514103

rs_926784722

4 SubmittersRCV001239788 RCV001806075

NM_000059.4(BRCA2):c.6616A>G (p.Lys2206Glu)

SNV
Germline

Chr13:32340971

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387790172

rs_2072560749

2 SubmittersRCV001239985 RCV003158600

NM_000059.4(BRCA2):c.9973T>C (p.Phe3325Leu)

SNV
Germline

Chr13:32398486

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA387767473

rs_2073053849

3 SubmittersRCV001239583 RCV005520469 RCV006258486

NM_007294.4(BRCA1):c.4846G>A (p.Ala1616Thr)

SNV
Germline

Chr17:43071068

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
BRCA1-related disorder
Breast-ovarian cancer, familial, susceptibility to, 1
BRCA1-related cancer predisposition
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10591834

rs_890599236

8 SubmittersRCV001247362 RCV002339688 RCV004554853 RCV004570633 RCV004803603 RCV006279507

NM_007294.4(BRCA1):c.3774G>C (p.Glu1258Asp)

SNV
Germline

Chr17:43091757

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10594422

rs_431825399

2 SubmittersRCV001243461 RCV003158611

NM_007294.4(BRCA1):c.3733A>G (p.Ser1245Gly)

SNV
Germline

Chr17:43091798

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10594501

rs_2053536157

2 SubmittersRCV001244672 RCV003158614

NM_007294.4(BRCA1):c.3631T>G (p.Ser1211Ala)

SNV
Germline

Chr17:43091900

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10594705

rs_2053553313

2 SubmittersRCV001247686 RCV003158626

NM_007294.4(BRCA1):c.3581C>G (p.Thr1194Ser)

SNV
Germline

Chr17:43091950

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified

Criteria Provided
Conflicting Classifications

CA10594799

rs_80357290

4 SubmittersRCV001239884 RCV003158599 RCV005419049

NM_007294.4(BRCA1):c.3211G>T (p.Glu1071Ter)

SNV
Germline

Chr17:43092320

Pathogenic

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA10595557

rs_41293445

2 SubmittersRCV001246825 RCV005520475

NM_007294.4(BRCA1):c.3049G>A (p.Glu1017Lys)

SNV
Germline

Chr17:43092482

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10595894

rs_80357004

3 SubmittersRCV001246174 RCV003158619

NM_007294.4(BRCA1):c.2476A>G (p.Thr826Ala)

SNV
Germline

Chr17:43093055

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10597050

rs_1597869768

2 SubmittersRCV001246437 RCV003158620

NM_007294.4(BRCA1):c.2318C>T (p.Pro773Leu)

SNV
Germline

Chr17:43093213

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
BRCA1-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA10597365

rs_2053781755

4 SubmittersRCV001241117 RCV003158603 RCV004803596

NM_007294.4(BRCA1):c.2314G>T (p.Val772Leu)

SNV
Germline

Chr17:43093217

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10597373

rs_1567796129

2 SubmittersRCV001248628 RCV003158630

NM_007294.4(BRCA1):c.2267G>C (p.Arg756Thr)

SNV
Germline

Chr17:43093264

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10597464

rs_975724885

2 SubmittersRCV001240986 RCV003158602

NM_007294.4(BRCA1):c.2111A>G (p.Asn704Ser)

SNV
Germline

Chr17:43093420

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10597780

rs_2053824395

4 SubmittersRCV001247952 RCV003158628 RCV003324824

NM_007294.4(BRCA1):c.4676-3C>T

SNV
Germline

Chr17:43071241

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1139665583

rs_2052431362

3 SubmittersRCV001226211 RCV004032564 RCV006258468

NM_007294.4(BRCA1):c.593+1G>A

SNV
Germline

Chr17:43097243

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Condition: not provided
Gastric cancer
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10600930

rs_1567804153

7 SubmittersRCV001237400 RCV001358105 RCV003166473 RCV003473814 RCV004951408

NM_000059.4(BRCA2):c.-40+1G>C

SNV
Germline

Chr13:32315668

Likely pathogenic

Hereditary breast ovarian cancer syndrome

Criteria Provided
Single Submitter

CA1139663041

rs_2072249096

1 SubmittersRCV001248513

NM_000059.4(BRCA2):c.8735C>T (p.Ala2912Val)

SNV
Germline

Chr13:32376772

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387755019

rs_2072876151

3 SubmittersRCV001251370 RCV003294162 RCV006466128

NM_130398.4(EXO1):c.820G>A (p.Gly274Arg)

SNV
Germline

Chr1:241860580

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary breast ovarian cancer syndrome
EXO1-related disorder

Criteria Provided
Conflicting Classifications

CA1481168

rs_149397534

6 SubmittersRCV001573635 RCV001374518 RCV003918812

NM_001282597.3(CTNNA2):c.103-1G>A

SNV
Germline

Chr2:79744386

Pathogenic

Hereditary breast ovarian cancer syndrome

Criteria Provided
Single Submitter

CA347504046

rs_2104990962

1 SubmittersRCV001374517

NM_000248.4(MITF):c.1A>G (p.Met1Val)

SNV
Germline

Chr3:69936723

Likely pathogenic

Hereditary breast ovarian cancer syndrome

Criteria Provided
Single Submitter

CA2490324

rs_760273611

1 SubmittersRCV001374510

NM_006424.3(SLC34A2):c.113-2A>G

SNV
Germline

Chr4:25662703

Likely pathogenic

Hereditary breast ovarian cancer syndrome

Criteria Provided
Single Submitter

CA356565201

rs_1714268814

1 SubmittersRCV001374511

NM_001382508.1(DROSHA):c.1498G>T (p.Glu500Ter)

SNV
Germline

Chr5:31508710

Pathogenic

Hereditary breast ovarian cancer syndrome

Criteria Provided
Single Submitter

CA359325325

rs_2150052710

1 SubmittersRCV001374505

NM_000264.5(PTCH1):c.454A>G (p.Met152Val)

SNV
Germline

Chr9:95485815

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Gorlin syndrome
Hereditary cancer-predisposing syndrome
not specified

Criteria Provided
Conflicting Classifications

CA5138936

rs_766905791

4 SubmittersRCV001374516 RCV001880015 RCV004035390 RCV006274173

NM_000124.4(ERCC6):c.1801G>A (p.Gly601Ser)

SNV
Germline

Chr10:49493137

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5495863

rs_138758064

4 SubmittersRCV001374496 RCV001508657

NM_004985.5(KRAS):c.461A>G (p.Asp154Gly)

SNV
Germline

Chr12:25209901

Likely pathogenic

Hereditary breast ovarian cancer syndrome

Criteria Provided
Single Submitter

CA384148521

rs_2141481712

1 SubmittersRCV001374475

NM_002298.5(LCP1):c.1122C>A (p.Tyr374Ter)

SNV
Germline

Chr13:46146960

Pathogenic

Hereditary breast ovarian cancer syndrome

Criteria Provided
Single Submitter

CA388133901

rs_1376923782

1 SubmittersRCV001374476

NM_014567.5(BCAR1):c.12+2T>C

SNV
Germline

Chr16:75251469

Likely pathogenic

Hereditary breast ovarian cancer syndrome

Criteria Provided
Single Submitter

CA396797039

rs_1597262107

1 SubmittersRCV001374512

NM_001110556.2(FLNA):c.5965C>T (p.Pro1989Ser)

SNV
Germline

ChrX:154353353

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Heterotopia, periventricular, X-linked dominant
Oto-palato-digital syndrome, type II
Melnick-Needles syndrome
Frontometaphyseal dysplasia

Criteria Provided
Conflicting Classifications

CA415197441

rs_1557176194

2 SubmittersRCV001374498 RCV003770356

NM_000059.4(BRCA2):c.8935A>T (p.Lys2979Ter)

SNV
Germline

Chr13:32379497

Pathogenic/Likely pathogenic

Condition: not provided
Familial cancer of breast
Hereditary breast ovarian cancer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA387757307

rs_2072903033

5 SubmittersRCV001268139 RCV003462846 RCV003770399

NM_007294.4(BRCA1):c.3037G>T (p.Glu1013Ter)

SNV
Germline

Chr17:43092494

Pathogenic

Condition: not provided
Hereditary breast ovarian cancer syndrome
Inherited breast cancer and ovarian cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA10595917

rs_1555588500

3 SubmittersRCV001268175 RCV005094280 RCV006279519

NM_000059.4(BRCA2):c.4321G>T (p.Glu1441Ter)

SNV
Germline

Chr13:32338676

Pathogenic/Likely pathogenic

Hereditary breast ovarian cancer syndrome
Condition: not provided
Familial cancer of breast
Inherited breast cancer and ovarian cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA387780821

rs_876659758

4 SubmittersRCV001269201 RCV001355086 RCV003473845 RCV006250225

NM_024675.4(PALB2):c.2996+2T>C

SNV
Germline

Chr16:23622967

Likely pathogenic

Hereditary breast ovarian cancer syndrome
Familial cancer of breast
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA395143815

rs_1966797789

4 SubmittersRCV001269178 RCV001377139 RCV003478760 RCV005403011

NM_000059.4(BRCA2):c.2372C>G (p.Ser791Ter)

SNV
Germline

Chr13:32336727

Pathogenic

Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 1
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA387771780

rs_397507624

5 SubmittersRCV001269874 RCV001310174 RCV003155971 RCV003770410 RCV006372403

NM_000059.4(BRCA2):c.2476G>T (p.Glu826Ter)

SNV
Germline

Chr13:32336831

Pathogenic

Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA387772374

rs_1566226803

4 SubmittersRCV001269985 RCV003155973 RCV005094290

NM_000059.4(BRCA2):c.5142T>G (p.Tyr1714Ter)

SNV
Germline

Chr13:32339497

Pathogenic/Likely pathogenic

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA387784202

rs_2072521352

3 SubmittersRCV001281567 RCV005532911 RCV005094325

NM_000059.4(BRCA2):c.893C>A (p.Thr298Lys)

SNV
Germline

Chr13:32332371

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387760665

rs_753067824

4 SubmittersRCV001284596 RCV001368493 RCV003158653

NM_000059.4(BRCA2):c.922T>C (p.Phe308Leu)

SNV
Germline

Chr13:32332400

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified

Criteria Provided
Conflicting Classifications

CA247496242

rs_921111470

5 SubmittersRCV001283948 RCV001871651 RCV003158639 RCV006453618

NM_000059.4(BRCA2):c.1037A>C (p.Asn346Thr)

SNV
Germline

Chr13:32332515

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387761210

rs_786202042

3 SubmittersRCV001284068 RCV001345310 RCV003158640

NM_000059.4(BRCA2):c.1688G>A (p.Trp563Ter)

SNV
Germline

Chr13:32333166

Pathogenic

Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA387765176

rs_1566224110

3 SubmittersRCV001284414 RCV001382281 RCV002411928

NM_000059.4(BRCA2):c.3364G>A (p.Gly1122Arg)

SNV
Germline

Chr13:32337719

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387776388

rs_2072478647

3 SubmittersRCV001284564 RCV001871660 RCV003158651

NM_000059.4(BRCA2):c.4037C>G (p.Thr1346Ser)

SNV
Germline

Chr13:32338392

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387779082

rs_1555283519

3 SubmittersRCV001284421 RCV001360014 RCV003158643

NM_000059.4(BRCA2):c.4510G>T (p.Val1504Leu)

SNV
Germline

Chr13:32338865

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387781619

rs_2072506082

4 SubmittersRCV001284565 RCV002542969 RCV002339710

NM_000059.4(BRCA2):c.4660A>G (p.Ser1554Gly)

SNV
Germline

Chr13:32339015

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387782744

rs_2072510232

3 SubmittersRCV001284572 RCV001871661 RCV003158652

NM_000059.4(BRCA2):c.4967C>T (p.Thr1656Ile)

SNV
Germline

Chr13:32339322

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387783815

rs_876659777

5 SubmittersRCV001284087 RCV002268463 RCV002542966 RCV003158641

NM_000059.4(BRCA2):c.6226G>A (p.Val2076Ile)

SNV
Germline

Chr13:32340581

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA6940937

rs_776348927

3 SubmittersRCV001284433 RCV003158645 RCV005094330

NM_000059.4(BRCA2):c.6319C>T (p.Pro2107Ser)

SNV
Germline

Chr13:32340674

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387789062

rs_1593908231

3 SubmittersRCV001284436 RCV001317029 RCV003158646

NM_000059.4(BRCA2):c.6413T>G (p.Val2138Gly)

SNV
Germline

Chr13:32340768

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387789265

rs_80358877

3 SubmittersRCV001284437 RCV001401750 RCV003158647

NM_000059.4(BRCA2):c.6644A>G (p.Tyr2215Cys)

SNV
Germline

Chr13:32340999

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA6940972

rs_753615126

4 SubmittersRCV001284579 RCV002366105 RCV003645226

NM_000059.4(BRCA2):c.8696A>G (p.Gln2899Arg)

SNV
Germline

Chr13:32376733

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387754835

rs_2072875390

5 SubmittersRCV001284590 RCV002375327 RCV002542970

NM_000059.4(BRCA2):c.8756G>C (p.Gly2919Ala)

SNV
Germline

Chr13:32379318

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387755704

rs_80359131

3 SubmittersRCV001284593 RCV002375328 RCV002541766

NM_007294.4(BRCA1):c.4019T>A (p.Leu1340Ter)

SNV
Germline

Chr17:43091512

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA10593922

rs_2053483708

3 SubmittersRCV001284395 RCV002375326 RCV006269360

NM_007294.4(BRCA1):c.3061A>G (p.Ser1021Gly)

SNV
Germline

Chr17:43092470

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10595866

rs_2053648539

4 SubmittersRCV001284542 RCV003158650 RCV005094333

NM_007294.4(BRCA1):c.2763G>C (p.Gln921His)

SNV
Germline

Chr17:43092768

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10596466

rs_1057522511

4 SubmittersRCV001284538 RCV002542968 RCV003158649

NM_007294.4(BRCA1):c.1425C>T (p.Ser475=)

SNV
Germline

Chr17:43094106

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA500233816

rs_2053939955

4 SubmittersRCV001284534 RCV002069506 RCV006548040

NM_007294.4(BRCA1):c.1343A>G (p.His448Arg)

SNV
Germline

Chr17:43094188

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified

Criteria Provided
Conflicting Classifications

CA10599364

rs_1597876676

5 SubmittersRCV001284532 RCV001327517 RCV003158648 RCV005236762

NM_007294.4(BRCA1):c.1101T>C (p.Thr367=)

SNV
Germline

Chr17:43094430

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA500233991

rs_2053993422

3 SubmittersRCV001284383 RCV003120530 RCV004035522

NM_007294.4(BRCA1):c.352C>T (p.Leu118=)

SNV
Germline

Chr17:43104211

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA500126902

rs_876659315

3 SubmittersRCV001283899 RCV002451639 RCV003645224

NM_000059.4(BRCA2):c.7682A>C (p.Gln2561Pro)

SNV
Germline

Chr13:32357806

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387745132

rs_55647716

3 SubmittersRCV001290189 RCV004035576

NM_000059.4(BRCA2):c.7786G>C (p.Gly2596Arg)

SNV
Germline

Chr13:32357910

Likely pathogenic

Hereditary breast ovarian cancer syndrome

Criteria Provided
Single Submitter

CA387746004

rs_398122591

1 SubmittersRCV001290192

NM_000059.4(BRCA2):c.7807G>C (p.Ala2603Pro)

SNV
Germline

Chr13:32362524

Likely pathogenic

Hereditary breast ovarian cancer syndrome

Criteria Provided
Single Submitter

CA387746924

rs_730881560

1 SubmittersRCV001290193

NM_000059.4(BRCA2):c.7888A>C (p.Lys2630Gln)

SNV
Germline

Chr13:32362605

Likely pathogenic

Hereditary breast ovarian cancer syndrome

Criteria Provided
Single Submitter

CA387747122

rs_1380792392

1 SubmittersRCV001290194

NM_000059.4(BRCA2):c.8174G>T (p.Trp2725Leu)

SNV
Germline

Chr13:32363376

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387749613

rs_730881581

2 SubmittersRCV001290196

NM_000059.4(BRCA2):c.9226G>C (p.Gly3076Arg)

SNV
Germline

Chr13:32380115

Likely pathogenic

Hereditary breast ovarian cancer syndrome

Criteria Provided
Single Submitter

CA387758502

rs_1566253644

1 SubmittersRCV001290200

NM_000059.4(BRCA2):c.3169A>G (p.Lys1057Glu)

SNV
Germline

Chr13:32337524

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387775804

rs_1566227924

5 SubmittersRCV001290630 RCV001776174 RCV003158656 RCV004004948 RCV006616464

NM_058216.3(RAD51C):c.394A>C (p.Thr132Pro)

SNV
Germline

Chr17:58695179

Likely pathogenic

Familial ovarian carcinoma
Breast-ovarian cancer, familial, susceptibility to, 3
Hereditary breast ovarian cancer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA400342010

rs_2047959481

4 SubmittersRCV001291630 RCV004783945 RCV003482162

NM_000059.4(BRCA2):c.4609G>C (p.Glu1537Gln)

SNV
Germline

Chr13:32338964

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA247508135

rs_753244927

5 SubmittersRCV001294058 RCV002339718 RCV002538431 RCV005423961

NM_000059.4(BRCA2):c.9946G>A (p.Glu3316Lys)

SNV
Germline

Chr13:32398459

Conflicting classifications of pathogenicity

Wilms tumor 1
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387767277

rs_758051959

3 SubmittersRCV001294151 RCV004951447 RCV006616467

NM_000059.4(BRCA2):c.468T>G (p.Asp156Glu)

SNV
Germline

Chr13:32326143

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387757225

rs_1197305103

3 SubmittersRCV001304088 RCV002341605

NM_000059.4(BRCA2):c.962A>C (p.Gln321Pro)

SNV
Germline

Chr13:32332440

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387760889

rs_2072401397

2 SubmittersRCV001308271 RCV003158694

NM_000059.4(BRCA2):c.1145A>G (p.Lys382Arg)

SNV
Germline

Chr13:32332623

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387761828

rs_1396595519

2 SubmittersRCV001306676 RCV003158688

NM_000059.4(BRCA2):c.1817C>G (p.Pro606Arg)

SNV
Germline

Chr13:32333295

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387766031

rs_80358469

2 SubmittersRCV001305954 RCV003158686

NM_000059.4(BRCA2):c.1970T>G (p.Leu657Trp)

SNV
Germline

Chr13:32336325

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387768542

rs_397507279

2 SubmittersRCV001303117 RCV003158682

NM_000059.4(BRCA2):c.2008T>G (p.Cys670Gly)

SNV
Germline

Chr13:32336363

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387768744

rs_1566225927

2 SubmittersRCV001302015 RCV003158677

NM_000059.4(BRCA2):c.2390A>G (p.Lys797Arg)

SNV
Germline

Chr13:32336745

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified

Criteria Provided
Conflicting Classifications

CA387771894

rs_2072456610

4 SubmittersRCV001294442 RCV002451649 RCV003399068

NM_000059.4(BRCA2):c.2759C>G (p.Pro920Arg)

SNV
Germline

Chr13:32337114

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387773658

rs_1555282835

2 SubmittersRCV001302264 RCV003158678

NM_000059.4(BRCA2):c.2773T>C (p.Ser925Pro)

SNV
Germline

Chr13:32337128

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA387773690

rs_2072464474

3 SubmittersRCV001294809 RCV003158658 RCV004004956

NM_000059.4(BRCA2):c.2916A>C (p.Lys972Asn)

SNV
Germline

Chr13:32337271

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387774201

rs_2072467749

3 SubmittersRCV001296693 RCV003158663

NM_000059.4(BRCA2):c.2955A>T (p.Lys985Asn)

SNV
Germline

Chr13:32337310

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387774400

rs_1555282971

2 SubmittersRCV001309066 RCV003158697

NM_000059.4(BRCA2):c.2973C>G (p.Asn991Lys)

SNV
Germline

Chr13:32337328

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387774534

rs_2072469477

3 SubmittersRCV001307063 RCV002437048

NM_000059.4(BRCA2):c.2996C>T (p.Pro999Leu)

SNV
Germline

Chr13:32337351

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387774645

rs_2072470050

2 SubmittersRCV001304600 RCV003158683

NM_000059.4(BRCA2):c.3128C>T (p.Ala1043Val)

SNV
Germline

Chr13:32337483

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387775723

rs_1555283059

2 SubmittersRCV001298884 RCV003158667

NM_000059.4(BRCA2):c.3153G>C (p.Leu1051Phe)

SNV
Germline

Chr13:32337508

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387775771

rs_1566227877

4 SubmittersRCV001309058 RCV002258191

NM_000059.4(BRCA2):c.3272T>C (p.Leu1091Ser)

SNV
Germline

Chr13:32337627

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387776056

rs_1064795577

2 SubmittersRCV001295384 RCV003158661

NM_000059.4(BRCA2):c.3344C>A (p.Ser1115Tyr)

SNV
Germline

Chr13:32337699

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387776323

rs_879255448

3 SubmittersRCV001298929 RCV002322196

NM_000059.4(BRCA2):c.3461C>A (p.Thr1154Asn)

SNV
Germline

Chr13:32337816

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387776743

rs_786202212

2 SubmittersRCV001297766 RCV003158666

NM_000059.4(BRCA2):c.3495T>G (p.His1165Gln)

SNV
Germline

Chr13:32337850

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387776924

rs_776655838

2 SubmittersRCV001306895 RCV003158690

NM_000059.4(BRCA2):c.3527T>C (p.Val1176Ala)

SNV
Germline

Chr13:32337882

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387777088

rs_2072482870

2 SubmittersRCV001309571 RCV003158698

NM_000059.4(BRCA2):c.3624A>C (p.Leu1208Phe)

SNV
Germline

Chr13:32337979

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387777587

rs_2072484830

2 SubmittersRCV001301916 RCV003158676

NM_000059.4(BRCA2):c.3708A>T (p.Lys1236Asn)

SNV
Germline

Chr13:32338063

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387778063

rs_2072486840

2 SubmittersRCV001304663 RCV003158684

NM_000059.4(BRCA2):c.3739A>G (p.Ile1247Val)

SNV
Germline

Chr13:32338094

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387778141

rs_2072487518

2 SubmittersRCV001300678 RCV003158672

NM_000059.4(BRCA2):c.4054G>A (p.Asp1352Asn)

SNV
Germline

Chr13:32338409

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387779116

rs_80358655

2 SubmittersRCV001307172 RCV003158691

NM_000059.4(BRCA2):c.4208C>T (p.Thr1403Ile)

SNV
Germline

Chr13:32338563

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA387780248

rs_2072498862

4 SubmittersRCV001298801 RCV002327642 RCV004779042

NM_000059.4(BRCA2):c.4287G>T (p.Gln1429His)

SNV
Germline

Chr13:32338642

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA387780642

rs_2072500788

4 SubmittersRCV001308016 RCV001525789 RCV004005048

NM_000059.4(BRCA2):c.4436G>A (p.Ser1479Asn)

SNV
Germline

Chr13:32338791

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387781313

rs_80358678

4 SubmittersRCV001305185 RCV001523986

NM_000059.4(BRCA2):c.4738T>C (p.Cys1580Arg)

SNV
Germline

Chr13:32339093

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387783048

rs_2072511910

3 SubmittersRCV001305948 RCV002341610

NM_000059.4(BRCA2):c.4990A>G (p.Ile1664Val)

SNV
Germline

Chr13:32339345

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387783889

rs_2072517745

3 SubmittersRCV001296964 RCV003158665

NM_000059.4(BRCA2):c.5491A>C (p.Ile1831Leu)

SNV
Germline

Chr13:32339846

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387785758

rs_1593905631

2 SubmittersRCV001296279 RCV003158662

NM_000059.4(BRCA2):c.5493A>G (p.Ile1831Met)

SNV
Germline

Chr13:32339848

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387785768

rs_2072530727

3 SubmittersRCV001302503 RCV003158679

NM_000059.4(BRCA2):c.5728A>G (p.Asn1910Asp)

SNV
Germline

Chr13:32340083

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA387786893

rs_2072537077

3 SubmittersRCV001300784 RCV003158673 RCV004803612

NM_000059.4(BRCA2):c.5942C>G (p.Ala1981Gly)

SNV
Germline

Chr13:32340297

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387787572

rs_2072542244

3 SubmittersRCV001307719 RCV003158692

NM_000059.4(BRCA2):c.6071A>T (p.Gln2024Leu)

SNV
Germline

Chr13:32340426

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA387787972

rs_80358845

3 SubmittersRCV001302770 RCV003158680 RCV004803614

NM_000059.4(BRCA2):c.6169G>A (p.Gly2057Arg)

SNV
Germline

Chr13:32340524

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387788354

rs_80358856

2 SubmittersRCV001300299 RCV003158670

NM_000059.4(BRCA2):c.6366G>A (p.Met2122Ile)

SNV
Germline

Chr13:32340721

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387789158

rs_1163477792

2 SubmittersRCV001300571 RCV003158671

NM_000059.4(BRCA2):c.6575T>C (p.Met2192Thr)

SNV
Germline

Chr13:32340930

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387789926

rs_2072559893

2 SubmittersRCV001308414 RCV003158695

NM_000059.4(BRCA2):c.6653A>T (p.Asp2218Val)

SNV
Germline

Chr13:32341008

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387790411

rs_2072561785

4 SubmittersRCV001296043 RCV001751561 RCV002366117

NM_000059.4(BRCA2):c.7892T>C (p.Leu2631Pro)

SNV
Germline

Chr13:32362609

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387747130

rs_2072746856

3 SubmittersRCV001301794 RCV001374714 RCV005306381

NM_000059.4(BRCA2):c.7918A>G (p.Lys2640Glu)

SNV
Germline

Chr13:32362635

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA387747180

rs_2072747596

3 SubmittersRCV001298538 RCV003355364 RCV004770014

NM_000059.4(BRCA2):c.8078T>C (p.Ile2693Thr)

SNV
Germline

Chr13:32363280

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387749216

rs_398122595

2 SubmittersRCV001295669 RCV002411941

NM_000059.4(BRCA2):c.9022A>T (p.Ile3008Phe)

SNV
Germline

Chr13:32379818

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387757485

rs_864622696

2 SubmittersRCV001298300 RCV002375348

NM_000059.4(BRCA2):c.9056A>G (p.Lys3019Arg)

SNV
Germline

Chr13:32379852

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387757553

rs_2072909723

2 SubmittersRCV001299689 RCV004036145

NM_000059.4(BRCA2):c.9457G>A (p.Gly3153Ser)

SNV
Germline

Chr13:32394889

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA387761679

rs_1566259215

3 SubmittersRCV001299290 RCV003284148 RCV004998800

NM_007294.4(BRCA1):c.4328G>T (p.Arg1443Leu)

SNV
Germline

Chr17:43082433

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10593067

rs_4986849

2 SubmittersRCV001299670 RCV005520481

NM_007294.4(BRCA1):c.4001G>T (p.Gly1334Val)

SNV
Germline

Chr17:43091530

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10593958

rs_2053486938

3 SubmittersRCV001307057 RCV002375382

NM_007294.4(BRCA1):c.3959C>T (p.Ser1320Phe)

SNV
Germline

Chr17:43091572

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10594044

rs_2053494663

3 SubmittersRCV001306185 RCV002375375

NM_007294.4(BRCA1):c.3811A>G (p.Ser1271Gly)

SNV
Germline

Chr17:43091720

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10594346

rs_2053519524

2 SubmittersRCV001304948 RCV003158685

NM_007294.4(BRCA1):c.3797G>A (p.Ser1266Asn)

SNV
Germline

Chr17:43091734

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10594374

rs_80357160

2 SubmittersRCV001295166 RCV003158660

NM_007294.4(BRCA1):c.3673T>A (p.Cys1225Ser)

SNV
Germline

Chr17:43091858

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10594624

rs_1382025345

2 SubmittersRCV001306779 RCV003158689

NM_007294.4(BRCA1):c.3664G>A (p.Glu1222Lys)

SNV
Germline

Chr17:43091867

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10594643

rs_80357356

4 SubmittersRCV001296697 RCV003158664 RCV003478764

NM_007294.4(BRCA1):c.3660T>G (p.Asp1220Glu)

SNV
Germline

Chr17:43091871

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10594650

rs_1365746397

2 SubmittersRCV001302897 RCV003158681

NM_007294.4(BRCA1):c.3610A>G (p.Arg1204Gly)

SNV
Germline

Chr17:43091921

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA10594749

rs_2053557648

3 SubmittersRCV001308772 RCV003158696 RCV005601742

NM_007294.4(BRCA1):c.3556C>G (p.Leu1186Val)

SNV
Germline

Chr17:43091975

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10594853

rs_1555587505

3 SubmittersRCV001301549 RCV003158674

NM_007294.4(BRCA1):c.3017A>C (p.His1006Pro)

SNV
Germline

Chr17:43092514

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10595959

rs_2053655843

2 SubmittersRCV001299576 RCV003158669

NM_007294.4(BRCA1):c.2614T>C (p.Phe872Leu)

SNV
Germline

Chr17:43092917

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10596770

rs_2053728394

3 SubmittersRCV001299217 RCV003158668

NM_007294.4(BRCA1):c.1976C>G (p.Pro659Arg)

SNV
Germline

Chr17:43093555

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10598062

rs_1258526903

6 SubmittersRCV001301537 RCV002418910 RCV003336374 RCV005005144

NM_007294.4(BRCA1):c.1930T>G (p.Cys644Gly)

SNV
Germline

Chr17:43093601

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10598165

rs_753521391

2 SubmittersRCV001301890 RCV003158675

NM_007294.4(BRCA1):c.1810A>G (p.Lys604Glu)

SNV
Germline

Chr17:43093721

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10598398

rs_2053879900

4 SubmittersRCV001301131 RCV001760352 RCV002411956

NM_007294.4(BRCA1):c.1331G>T (p.Ser444Ile)

SNV
Germline

Chr17:43094200

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10599387

rs_1597876749

4 SubmittersRCV001308255 RCV002259102

NM_007294.4(BRCA1):c.1328A>G (p.Lys443Arg)

SNV
Germline

Chr17:43094203

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10599396

rs_2053956439

5 SubmittersRCV001308149 RCV003158693 RCV004770027

NM_007294.4(BRCA1):c.1281G>C (p.Glu427Asp)

SNV
Germline

Chr17:43094250

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10599496

rs_1567800181

4 SubmittersRCV001296055 RCV002379991 RCV006258506

NM_007294.4(BRCA1):c.1226T>G (p.Val409Gly)

SNV
Germline

Chr17:43094305

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10599597

rs_786202539

3 SubmittersRCV001298534 RCV002375349

NM_007294.4(BRCA1):c.1199A>T (p.Asp400Val)

SNV
Germline

Chr17:43094332

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10599651

rs_1555592245

4 SubmittersRCV001304923 RCV002350553 RCV006252774

NM_007294.4(BRCA1):c.1195C>T (p.His399Tyr)

SNV
Germline

Chr17:43094336

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10599661

rs_2053979560

2 SubmittersRCV001295047 RCV003158659

NM_007294.4(BRCA1):c.778A>G (p.Lys260Glu)

SNV
Germline

Chr17:43094753

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10600525

rs_786202263

3 SubmittersRCV001306563 RCV003158687

NM_007294.4(BRCA1):c.776A>C (p.Glu259Ala)

SNV
Germline

Chr17:43094755

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10600530

rs_2054050036

2 SubmittersRCV001294441 RCV003158657

NM_000059.4(BRCA2):c.886T>C (p.Tyr296His)

SNV
Germline

Chr13:32332364

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387760651

rs_1347459118

4 SubmittersRCV001317026 RCV003158714

NM_000059.4(BRCA2):c.1055A>G (p.Tyr352Cys)

SNV
Germline

Chr13:32332533

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387761309

rs_2072403426

2 SubmittersRCV001319672 RCV003158721

NM_000059.4(BRCA2):c.1319T>G (p.Leu440Arg)

SNV
Germline

Chr13:32332797

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387762649

rs_2072409540

3 SubmittersRCV001321846 RCV002384416

NM_000059.4(BRCA2):c.1567C>T (p.His523Tyr)

SNV
Germline

Chr13:32333045

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA387764718

rs_2072416501

4 SubmittersRCV001321138 RCV002402893 RCV006258527

NM_000059.4(BRCA2):c.1651G>T (p.Asp551Tyr)

SNV
Germline

Chr13:32333129

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387765002

rs_876660500

2 SubmittersRCV001317706 RCV003158717

NM_000059.4(BRCA2):c.1685G>T (p.Ser562Ile)

SNV
Germline

Chr13:32333163

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387765162

rs_2072419618

2 SubmittersRCV001314989 RCV003158706

NM_000059.4(BRCA2):c.1945C>A (p.Gln649Lys)

SNV
Germline

Chr13:32336300

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387768388

rs_398122735

2 SubmittersRCV001316099 RCV003158709

NM_000059.4(BRCA2):c.1990G>A (p.Gly664Arg)

SNV
Germline

Chr13:32336345

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified

Criteria Provided
Conflicting Classifications

CA387768645

rs_1346252146

3 SubmittersRCV001327285 RCV003158747 RCV005432671

NM_000059.4(BRCA2):c.2000T>C (p.Leu667Pro)

SNV
Germline

Chr13:32336355

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387768696

rs_2072448677

2 SubmittersRCV001316635 RCV003158712

NM_000059.4(BRCA2):c.2028T>G (p.Cys676Trp)

SNV
Germline

Chr13:32336383

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387768865

rs_2072449178

3 SubmittersRCV001326622 RCV003158743

NM_000059.4(BRCA2):c.2225A>G (p.Gln742Arg)

SNV
Germline

Chr13:32336580

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA387770705

rs_1282599125

5 SubmittersRCV001316100 RCV002431898 RCV004005083

NM_000059.4(BRCA2):c.2297C>A (p.Ala766Asp)

SNV
Germline

Chr13:32336652

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA387771268

rs_2072454625

3 SubmittersRCV001316048 RCV003158708 RCV003230659

NM_000059.4(BRCA2):c.2386G>T (p.Asp796Tyr)

SNV
Germline

Chr13:32336741

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387771874

rs_1555282650

2 SubmittersRCV001320787 RCV003158727

NM_000059.4(BRCA2):c.2694G>T (p.Arg898Ser)

SNV
Germline

Chr13:32337049

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387773472

rs_2072463067

2 SubmittersRCV001316922 RCV003158713

NM_000059.4(BRCA2):c.2894T>C (p.Met965Thr)

SNV
Germline

Chr13:32337249

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387774135

rs_2072467391

2 SubmittersRCV001320983 RCV003158728

NM_000059.4(BRCA2):c.2908G>T (p.Asp970Tyr)

SNV
Germline

Chr13:32337263

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387774184

rs_397507295

2 SubmittersRCV001323287 RCV003158736

NM_000059.4(BRCA2):c.2935A>G (p.Ile979Val)

SNV
Germline

Chr13:32337290

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA387774269

rs_2072468286

4 SubmittersRCV001313624 RCV003158703 RCV004803624

NM_000059.4(BRCA2):c.2938G>C (p.Asp980His)

SNV
Germline

Chr13:32337293

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387774286

rs_397507298

3 SubmittersRCV001315796 RCV003158707

NM_000059.4(BRCA2):c.2986C>G (p.Leu996Val)

SNV
Germline

Chr13:32337341

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387774588

rs_2072469725

2 SubmittersRCV001325902 RCV003158742

NM_000059.4(BRCA2):c.3047A>C (p.Glu1016Ala)

SNV
Germline

Chr13:32337402

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387775024

rs_1566227668

3 SubmittersRCV001327669 RCV003158748

NM_000059.4(BRCA2):c.3089T>C (p.Phe1030Ser)

SNV
Germline

Chr13:32337444

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387775263

rs_2072472146

2 SubmittersRCV001317840 RCV003158718

NM_000059.4(BRCA2):c.3097G>C (p.Asp1033His)

SNV
Germline

Chr13:32337452

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA6940665

rs_780279081

2 SubmittersRCV001316282 RCV003158710

NM_000059.4(BRCA2):c.3197A>T (p.Asn1066Ile)

SNV
Germline

Chr13:32337552

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified

Criteria Provided
Conflicting Classifications

CA387775857

rs_762752733

4 SubmittersRCV001318719 RCV002322234 RCV003994264

NM_000059.4(BRCA2):c.3259A>G (p.Thr1087Ala)

SNV
Germline

Chr13:32337614

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387776007

rs_775142613

3 SubmittersRCV001324042 RCV003158737

NM_000059.4(BRCA2):c.3283C>G (p.Gln1095Glu)

SNV
Germline

Chr13:32337638

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387776099

rs_397507662

2 SubmittersRCV001322893 RCV003158734

NM_000059.4(BRCA2):c.3928A>T (p.Thr1310Ser)

SNV
Germline

Chr13:32338283

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387778844

rs_2072491912

4 SubmittersRCV001321397 RCV003478779 RCV003158731

NM_000059.4(BRCA2):c.4087A>G (p.Asn1363Asp)

SNV
Germline

Chr13:32338442

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387779205

rs_2072495655

2 SubmittersRCV001320612 RCV003158724

NM_000059.4(BRCA2):c.4117A>T (p.Met1373Leu)

SNV
Germline

Chr13:32338472

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387779315

rs_781119815

2 SubmittersRCV001313615 RCV003158702

NM_000059.4(BRCA2):c.4213A>C (p.Asn1405His)

SNV
Germline

Chr13:32338568

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387780266

rs_1555283633

3 SubmittersRCV001312878 RCV002327693

NM_000059.4(BRCA2):c.4340T>C (p.Val1447Ala)

SNV
Germline

Chr13:32338695

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387780887

rs_2072501995

3 SubmittersRCV001320771 RCV003158725

NM_000059.4(BRCA2):c.4358A>G (p.Lys1453Arg)

SNV
Germline

Chr13:32338713

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387780955

rs_2072502303

2 SubmittersRCV001327889 RCV003158749

NM_000059.4(BRCA2):c.4837C>T (p.Pro1613Ser)

SNV
Germline

Chr13:32339192

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387783340

rs_2072513922

5 SubmittersRCV001327197 RCV001773656 RCV003158746

NM_000059.4(BRCA2):c.4838C>G (p.Pro1613Arg)

SNV
Germline

Chr13:32339193

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387783343

rs_1360725610

2 SubmittersRCV001320265 RCV003158723

NM_000059.4(BRCA2):c.4865G>T (p.Arg1622Ile)

SNV
Germline

Chr13:32339220

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387783439

rs_864622427

3 SubmittersRCV001316543 RCV002341643

NM_000059.4(BRCA2):c.5007A>T (p.Leu1669Phe)

SNV
Germline

Chr13:32339362

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387783935

rs_2072518124

2 SubmittersRCV001317626 RCV003158716

NM_000059.4(BRCA2):c.5108A>T (p.Glu1703Val)

SNV
Germline

Chr13:32339463

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387784132

rs_746177907

3 SubmittersRCV001319765 RCV001810724 RCV003158722

NM_000059.4(BRCA2):c.5436A>T (p.Glu1812Asp)

SNV
Germline

Chr13:32339791

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387785509

rs_754090538

2 SubmittersRCV001318536 RCV003158719

NM_000059.4(BRCA2):c.5497A>G (p.Asn1833Asp)

SNV
Germline

Chr13:32339852

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387785779

rs_2072530840

2 SubmittersRCV001325132 RCV003158739

NM_000059.4(BRCA2):c.5502T>A (p.Ser1834Arg)

SNV
Germline

Chr13:32339857

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387785802

rs_2072530948

2 SubmittersRCV001313246 RCV003158701

NM_000059.4(BRCA2):c.5558G>A (p.Cys1853Tyr)

SNV
Germline

Chr13:32339913

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387785968

rs_2072532051

3 SubmittersRCV001313356 RCV002350568

NM_000059.4(BRCA2):c.5620A>G (p.Ile1874Val)

SNV
Germline

Chr13:32339975

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA247510697

rs_921917607

3 SubmittersRCV001317174 RCV002350580

NM_000059.4(BRCA2):c.5825T>G (p.Val1942Gly)

SNV
Germline

Chr13:32340180

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387787306

rs_2072539383

3 SubmittersRCV001323118 RCV002476518 RCV003158735

NM_000059.4(BRCA2):c.5927G>A (p.Gly1976Glu)

SNV
Germline

Chr13:32340282

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA6940914

rs_587782751

5 SubmittersRCV001324151 RCV003158738 RCV004803638

NM_000059.4(BRCA2):c.5961G>C (p.Gln1987His)

SNV
Germline

Chr13:32340316

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA387787610

rs_387907575

3 SubmittersRCV001321005 RCV003158729 RCV001773640

NM_000059.4(BRCA2):c.6164T>C (p.Phe2055Ser)

SNV
Germline

Chr13:32340519

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387788333

rs_2072548028

2 SubmittersRCV001317290 RCV003158715

NM_000059.4(BRCA2):c.6258C>G (p.Ile2086Met)

SNV
Germline

Chr13:32340613

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387788944

rs_1060504611

3 SubmittersRCV001313227 RCV002366160

NM_000059.4(BRCA2):c.6287C>T (p.Pro2096Leu)

SNV
Germline

Chr13:32340642

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA387789005

rs_587781396

3 SubmittersRCV001320774 RCV003158726 RCV004005103

NM_000059.4(BRCA2):c.6612T>A (p.Pro2204=)

SNV
Germline

Chr13:32340967

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA483439295

rs_2072560682

2 SubmittersRCV001315597 RCV002375402

NM_000059.4(BRCA2):c.6682G>A (p.Val2228Ile)

SNV
Germline

Chr13:32341037

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387790566

rs_1593909466

3 SubmittersRCV001317923 RCV002366172

NM_000059.4(BRCA2):c.6686A>T (p.Glu2229Val)

SNV
Germline

Chr13:32341041

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387790581

rs_2072562512

2 SubmittersRCV001325500 RCV003158741

NM_000059.4(BRCA2):c.6703A>G (p.Met2235Val)

SNV
Germline

Chr13:32341058

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified

Criteria Provided
Conflicting Classifications

CA387790647

rs_2072563047

4 SubmittersRCV001319896 RCV002366181 RCV005408830

NM_000059.4(BRCA2):c.6832A>C (p.Ile2278Leu)

SNV
Germline

Chr13:32341187

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA387791484

rs_772645059

5 SubmittersRCV001319273 RCV003158720 RCV004005096

NM_000059.4(BRCA2):c.7465G>A (p.Asp2489Asn)

SNV
Germline

Chr13:32356457

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387743173

rs_1422201756

2 SubmittersRCV001326947 RCV002395724

NM_000059.4(BRCA2):c.8086T>G (p.Leu2696Val)

SNV
Germline

Chr13:32363288

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387749247

rs_767912817

2 SubmittersRCV001326661 RCV002418980

NM_000059.4(BRCA2):c.8795A>G (p.His2932Arg)

SNV
Germline

Chr13:32379357

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA387755962

rs_2072898238

4 SubmittersRCV001314836 RCV003166799 RCV004005075 RCV006258523

NM_000059.4(BRCA2):c.9547A>C (p.Ile3183Leu)

SNV
Germline

Chr13:32396943

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
BRCA2-related cancer predisposition
Condition: not provided

Criteria Provided
Conflicting Classifications

CA387763179

rs_377123889

4 SubmittersRCV001321386 RCV002377401 RCV004803634 RCV006258528

NM_007294.4(BRCA1):c.4037A>G (p.Glu1346Gly)

SNV
Germline

Chr17:43091494

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10593884

rs_2053481117

3 SubmittersRCV001322268 RCV003158732

NM_007294.4(BRCA1):c.3645C>G (p.Asn1215Lys)

SNV
Germline

Chr17:43091886

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA059323

rs_758329415

3 SubmittersRCV001327080 RCV003158744

NM_007294.4(BRCA1):c.3131T>C (p.Ile1044Thr)

SNV
Germline

Chr17:43092400

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10595722

rs_2053637993

2 SubmittersRCV001325146 RCV003158740

NM_007294.4(BRCA1):c.3025T>C (p.Ser1009Pro)

SNV
Germline

Chr17:43092506

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10595942

rs_2053654131

2 SubmittersRCV001327196 RCV003158745

NM_007294.4(BRCA1):c.2907T>A (p.Asn969Lys)

SNV
Germline

Chr17:43092624

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10596179

rs_2053674031

2 SubmittersRCV001314736 RCV003158705

NM_007294.4(BRCA1):c.2446C>A (p.His816Asn)

SNV
Germline

Chr17:43093085

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10597119

rs_1597869935

3 SubmittersRCV001323550 RCV002456448

NM_007294.4(BRCA1):c.2306T>C (p.Ile769Thr)

SNV
Germline

Chr17:43093225

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10597387

rs_372366481

2 SubmittersRCV001322628 RCV003158733

NM_007294.4(BRCA1):c.2236G>A (p.Asp746Asn)

SNV
Germline

Chr17:43093295

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10597528

rs_876660267

4 SubmittersRCV001318822 RCV002431910 RCV006272450

NM_007294.4(BRCA1):c.1709C>T (p.Pro570Leu)

SNV
Germline

Chr17:43093822

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10598607

rs_879254020

3 SubmittersRCV001313807 RCV003158704

NM_007294.4(BRCA1):c.1633G>T (p.Val545Leu)

SNV
Germline

Chr17:43093898

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10598772

rs_1304908704

3 SubmittersRCV001312991 RCV003158700

NM_007294.4(BRCA1):c.1358A>C (p.Glu453Ala)

SNV
Germline

Chr17:43094173

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10599336

rs_1567799925

3 SubmittersRCV001325401 RCV002384434

NM_007294.4(BRCA1):c.1304A>T (p.Asp435Val)

SNV
Germline

Chr17:43094227

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10599444

rs_2053960174

3 SubmittersRCV001327295 RCV002384441

NM_007294.4(BRCA1):c.1163G>A (p.Arg388Lys)

SNV
Germline

Chr17:43094368

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10599728

rs_786203567

3 SubmittersRCV001327897 RCV003158750

NM_007294.4(BRCA1):c.968G>A (p.Gly323Glu)

SNV
Germline

Chr17:43094563

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10600128

rs_2054014720

3 SubmittersRCV001316292 RCV003158711

NM_007294.4(BRCA1):c.829A>C (p.Asn277His)

SNV
Germline

Chr17:43094702

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10600429

rs_2054040121

2 SubmittersRCV001321352 RCV003158730

NM_007294.4(BRCA1):c.498G>C (p.Arg166Ser)

SNV
Germline

Chr17:43099824

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA10601146

rs_1474499188

3 SubmittersRCV001319596 RCV002341655 RCV003449912

NM_007294.4(BRCA1):c.302-3C>T

SNV
Germline

Chr17:43104264

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2260790515

rs_80358051

4 SubmittersRCV001322081 RCV001871790 RCV002438734 RCV006258529

NM_000059.4(BRCA2):c.5731G>A (p.Asp1911Asn)

SNV
Germline

Chr13:32340086

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387786915

rs_2072537137

3 SubmittersRCV001328380 RCV003158751 RCV002546257

NM_000059.4(BRCA2):c.931T>C (p.Cys311Arg)

SNV
Germline

Chr13:32332409

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Malignant tumor of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA247496296

rs_61754140

3 SubmittersRCV001337541 RCV001357899 RCV003158755

NM_000059.4(BRCA2):c.944G>A (p.Cys315Tyr)

SNV
Germline

Chr13:32332422

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387760821

rs_2072400977

3 SubmittersRCV001349173 RCV003158800

NM_000059.4(BRCA2):c.1015G>C (p.Asp339His)

SNV
Germline

Chr13:32332493

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387761102

rs_1555281693

2 SubmittersRCV001339151 RCV003158764

NM_000059.4(BRCA2):c.1020A>T (p.Glu340Asp)

SNV
Germline

Chr13:32332498

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387761120

rs_2072402711

2 SubmittersRCV001344453 RCV003158785

NM_000059.4(BRCA2):c.1331A>T (p.Asn444Ile)

SNV
Germline

Chr13:32332809

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
not specified

Criteria Provided
Conflicting Classifications

CA387762683

rs_2072409915

5 SubmittersRCV001351847 RCV001751689 RCV003158810 RCV005057308

NM_000059.4(BRCA2):c.1412A>G (p.Glu471Gly)

SNV
Germline

Chr13:32332890

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387764197

rs_2072412299

2 SubmittersRCV001337340 RCV003158754

NM_000059.4(BRCA2):c.1518C>G (p.Phe506Leu)

SNV
Germline

Chr13:32332996

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387764548

rs_1438502006

3 SubmittersRCV001350672 RCV002395777

NM_000059.4(BRCA2):c.1782A>G (p.Ile594Met)

SNV
Germline

Chr13:32333260

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387765703

rs_2072421971

2 SubmittersRCV001352129 RCV003158813

NM_000059.4(BRCA2):c.2018A>G (p.Asn673Ser)

SNV
Germline

Chr13:32336373

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387768795

rs_1193025774

3 SubmittersRCV001341912 RCV003158771

NM_000059.4(BRCA2):c.2161C>A (p.Pro721Thr)

SNV
Germline

Chr13:32336516

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387770250

rs_867089743

2 SubmittersRCV001350968 RCV003158808

NM_000059.4(BRCA2):c.2194G>A (p.Glu732Lys)

SNV
Germline

Chr13:32336549

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387770457

rs_1244303575

2 SubmittersRCV001342866 RCV003158775

NM_000059.4(BRCA2):c.2311T>G (p.Leu771Val)

SNV
Germline

Chr13:32336666

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387771390

rs_2072454912

3 SubmittersRCV001339258 RCV003158766

NM_000059.4(BRCA2):c.2428A>C (p.Thr810Pro)

SNV
Germline

Chr13:32336783

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387772143

rs_80358508

2 SubmittersRCV001350555 RCV003158804

NM_000059.4(BRCA2):c.2549A>G (p.Gln850Arg)

SNV
Germline

Chr13:32336904

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387772519

rs_2072459937

4 SubmittersRCV001341255 RCV002438781

NM_000059.4(BRCA2):c.2692A>G (p.Arg898Gly)

SNV
Germline

Chr13:32337047

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387773464

rs_2072463015

2 SubmittersRCV001349129 RCV003158799

NM_000059.4(BRCA2):c.2700T>G (p.Asn900Lys)

SNV
Germline

Chr13:32337055

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387773496

rs_1593897567

3 SubmittersRCV001342970 RCV003158777

NM_000059.4(BRCA2):c.2767A>G (p.Lys923Glu)

SNV
Germline

Chr13:32337122

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387773675

rs_2072464353

2 SubmittersRCV001350614 RCV003158806

NM_000059.4(BRCA2):c.2984G>A (p.Gly995Glu)

SNV
Germline

Chr13:32337339

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387774577

rs_397507299

3 SubmittersRCV001337563 RCV003158756

NM_000059.4(BRCA2):c.3004A>G (p.Asn1002Asp)

SNV
Germline

Chr13:32337359

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6940654

rs_780365246

5 SubmittersRCV001343189 RCV003158779 RCV004998838

NM_000059.4(BRCA2):c.3049A>C (p.Ile1017Leu)

SNV
Germline

Chr13:32337404

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387775030

rs_2072470931

3 SubmittersRCV001340278 RCV003158768

NM_000059.4(BRCA2):c.3179G>A (p.Ser1060Asn)

SNV
Germline

Chr13:32337534

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
BRCA2-related disorder

Criteria Provided
Conflicting Classifications

CA387775822

rs_2072474262

3 SubmittersRCV001349434 RCV003158801 RCV004531147

NM_000059.4(BRCA2):c.3250A>T (p.Ser1084Cys)

SNV
Germline

Chr13:32337605

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387775976

rs_369907107

2 SubmittersRCV001337933 RCV003158761

NM_000059.4(BRCA2):c.3448A>G (p.Thr1150Ala)

SNV
Germline

Chr13:32337803

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387776669

rs_367789070

3 SubmittersRCV001338556 RCV003158763

NM_000059.4(BRCA2):c.3478A>G (p.Arg1160Gly)

SNV
Germline

Chr13:32337833

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387776837

rs_2072481649

2 SubmittersRCV001352461 RCV003158814

NM_000059.4(BRCA2):c.3508G>A (p.Ala1170Thr)

SNV
Germline

Chr13:32337863

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387776992

rs_2072482404

3 SubmittersRCV001348868 RCV003158796

NM_000059.4(BRCA2):c.3540G>T (p.Lys1180Asn)

SNV
Germline

Chr13:32337895

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387777157

rs_864622363

2 SubmittersRCV001348961 RCV003158797

NM_000059.4(BRCA2):c.3962A>T (p.Asp1321Val)

SNV
Germline

Chr13:32338317

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA247506226

rs_80358645

2 SubmittersRCV001345057 RCV003158788

NM_000059.4(BRCA2):c.4043G>T (p.Cys1348Phe)

SNV
Germline

Chr13:32338398

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA387779092

rs_1307056903

4 SubmittersRCV001339704 RCV002322276 RCV005414597

NM_000059.4(BRCA2):c.4127G>A (p.Gly1376Glu)

SNV
Germline

Chr13:32338482

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified

Criteria Provided
Conflicting Classifications

CA387779357

rs_780458959

3 SubmittersRCV001343425 RCV003158780 RCV004596445

NM_000059.4(BRCA2):c.4201G>A (p.Gly1401Ser)

SNV
Germline

Chr13:32338556

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387780213

rs_2072498754

4 SubmittersRCV001347707 RCV001776212 RCV003158794

NM_000059.4(BRCA2):c.4207A>G (p.Thr1403Ala)

SNV
Germline

Chr13:32338562

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA387780242

rs_2072498842

4 SubmittersRCV001345271 RCV002329326 RCV003478790

NM_000059.4(BRCA2):c.4482T>G (p.Ser1494Arg)

SNV
Germline

Chr13:32338837

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA6940783

rs_761826517

2 SubmittersRCV001344570 RCV003158786

NM_000059.4(BRCA2):c.4616T>C (p.Leu1539Ser)

SNV
Germline

Chr13:32338971

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
not specified
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387782031

rs_2072509102

4 SubmittersRCV001345544 RCV002246322 RCV003158789

NM_000059.4(BRCA2):c.4621A>C (p.Lys1541Gln)

SNV
Germline

Chr13:32338976

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387782051

rs_2072509204

3 SubmittersRCV001345920 RCV003158792

NM_000059.4(BRCA2):c.4828G>C (p.Val1610Leu)

SNV
Germline

Chr13:32339183

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387783312

rs_80358705

2 SubmittersRCV001342363 RCV003158774

NM_000059.4(BRCA2):c.4940C>T (p.Thr1647Ile)

SNV
Germline

Chr13:32339295

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387783711

rs_1593903891

3 SubmittersRCV001348610 RCV002341727

NM_000059.4(BRCA2):c.4969A>T (p.Asn1657Tyr)

SNV
Germline

Chr13:32339324

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
not specified
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387783818

rs_587781599

3 SubmittersRCV001337591 RCV002246315 RCV003158757

NM_000059.4(BRCA2):c.5120C>G (p.Thr1707Ser)

SNV
Germline

Chr13:32339475

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387784156

rs_786202354

2 SubmittersRCV001343921 RCV003158783

NM_000059.4(BRCA2):c.5162A>G (p.Asn1721Ser)

SNV
Germline

Chr13:32339517

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387784244

rs_2072522047

2 SubmittersRCV001349454 RCV003158802

NM_000059.4(BRCA2):c.5365A>C (p.Lys1789Gln)

SNV
Germline

Chr13:32339720

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387785116

rs_587782240

3 SubmittersRCV001341554 RCV002350622

NM_000059.4(BRCA2):c.5374T>C (p.Ser1792Pro)

SNV
Germline

Chr13:32339729

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified

Criteria Provided
Conflicting Classifications

CA387785161

rs_2072527957

4 SubmittersRCV001342941 RCV003158776 RCV006274194

NM_000059.4(BRCA2):c.5428G>T (p.Val1810Phe)

SNV
Germline

Chr13:32339783

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387785467

rs_80358766

4 SubmittersRCV001343687 RCV001762578 RCV002070216 RCV003158781

NM_000059.4(BRCA2):c.5524C>A (p.Pro1842Thr)

SNV
Germline

Chr13:32339879

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387785889

rs_2072531201

4 SubmittersRCV001348643 RCV002350647

NM_000059.4(BRCA2):c.5600C>A (p.Thr1867Lys)

SNV
Germline

Chr13:32339955

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387786060

rs_2072533075

2 SubmittersRCV001337713 RCV003158758

NM_000059.4(BRCA2):c.5722C>G (p.Leu1908Val)

SNV
Germline

Chr13:32340077

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387786852

rs_878939010

3 SubmittersRCV001341537 RCV002350621

NM_000059.4(BRCA2):c.5755A>G (p.Lys1919Glu)

SNV
Germline

Chr13:32340110

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387787041

rs_2072537659

3 SubmittersRCV001340660 RCV003158770

NM_000059.4(BRCA2):c.5855T>C (p.Leu1952Ser)

SNV
Germline

Chr13:32340210

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387787407

rs_375064902

2 SubmittersRCV001352013 RCV003158812

NM_000059.4(BRCA2):c.5944A>G (p.Ser1982Gly)

SNV
Germline

Chr13:32340299

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA387787576

rs_2072542296

3 SubmittersRCV001340043 RCV003158767 RCV004005163

NM_000059.4(BRCA2):c.5945G>A (p.Ser1982Asn)

SNV
Germline

Chr13:32340300

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA6940916

rs_28897738

4 SubmittersRCV001348747 RCV001586140 RCV003158795

NM_000059.4(BRCA2):c.6008T>G (p.Ile2003Arg)

SNV
Germline

Chr13:32340363

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387787694

rs_80358837

2 SubmittersRCV001345767 RCV003158791

NM_000059.4(BRCA2):c.6101G>T (p.Arg2034Leu)

SNV
Germline

Chr13:32340456

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387788096

rs_80358849

2 SubmittersRCV001345656 RCV003158790

NM_000059.4(BRCA2):c.6307T>C (p.Ser2103Pro)

SNV
Germline

Chr13:32340662

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387789040

rs_2072551841

3 SubmittersRCV001348969 RCV002250751 RCV003158798

NM_000059.4(BRCA2):c.6345G>C (p.Glu2115Asp)

SNV
Germline

Chr13:32340700

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387789114

rs_1432047332

2 SubmittersRCV001350688 RCV003158807

NM_000059.4(BRCA2):c.6447T>G (p.Ile2149Met)

SNV
Germline

Chr13:32340802

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387789323

rs_1593908723

2 SubmittersRCV001344303 RCV003158784

NM_000059.4(BRCA2):c.6550C>A (p.Gln2184Lys)

SNV
Germline

Chr13:32340905

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387789777

rs_80358887

2 SubmittersRCV001344662 RCV003158787

NM_000059.4(BRCA2):c.6580A>G (p.Ile2194Val)

SNV
Germline

Chr13:32340935

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387789964

rs_1566234950

2 SubmittersRCV001337788 RCV003158759

NM_000059.4(BRCA2):c.6827C>T (p.Pro2276Leu)

SNV
Germline

Chr13:32341182

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA247514700

rs_748541466

2 SubmittersRCV001340378 RCV003158769

NM_000059.4(BRCA2):c.7645T>G (p.Cys2549Gly)

SNV
Germline

Chr13:32357769

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA387744881

rs_2072708250

4 SubmittersRCV001339666 RCV001524142 RCV003473867

NM_000059.4(BRCA2):c.9473C>T (p.Thr3158Ile)

SNV
Germline

Chr13:32394905

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387761770

rs_2073025198

2 SubmittersRCV001342619 RCV004036001

NM_007294.4(BRCA1):c.3959C>G (p.Ser1320Cys)

SNV
Germline

Chr17:43091572

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10594045

rs_2053494663

3 SubmittersRCV001346882 RCV003158793

NM_007294.4(BRCA1):c.3877G>A (p.Ala1293Thr)

SNV
Germline

Chr17:43091654

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10594210

rs_397507223

3 SubmittersRCV001339184 RCV003158765

NM_007294.4(BRCA1):c.3653G>A (p.Ser1218Asn)

SNV
Germline

Chr17:43091878

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10594666

rs_2053549058

2 SubmittersRCV001350596 RCV003158805

NM_007294.4(BRCA1):c.3565A>C (p.Ser1189Arg)

SNV
Germline

Chr17:43091966

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10594835

rs_1567791142

2 SubmittersRCV001351054 RCV003158809

NM_007294.4(BRCA1):c.3372C>A (p.Phe1124Leu)

SNV
Germline

Chr17:43092159

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10595234

rs_786203431

2 SubmittersRCV001337209 RCV003158753

NM_007294.4(BRCA1):c.3365C>T (p.Thr1122Ile)

SNV
Germline

Chr17:43092166

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA10595248

rs_2053599251

4 SubmittersRCV001348984 RCV002456516 RCV003607420

NM_007294.4(BRCA1):c.3255A>T (p.Arg1085Ser)

SNV
Germline

Chr17:43092276

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10595473

rs_2053619110

2 SubmittersRCV001337208 RCV003158752

NM_007294.4(BRCA1):c.2828A>G (p.Lys943Arg)

SNV
Germline

Chr17:43092703

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10596334

rs_2053689894

2 SubmittersRCV001343910 RCV003158782

NM_007294.4(BRCA1):c.2595G>C (p.Lys865Asn)

SNV
Germline

Chr17:43092936

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10596803

rs_1268762258

3 SubmittersRCV001348513 RCV002456513

NM_007294.4(BRCA1):c.2501G>C (p.Gly834Ala)

SNV
Germline

Chr17:43093030

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10596996

rs_757383244

3 SubmittersRCV001350097 RCV003158803

NM_007294.4(BRCA1):c.2321G>C (p.Gly774Ala)

SNV
Germline

Chr17:43093210

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10597361

rs_730881482

2 SubmittersRCV001337800 RCV003158760

NM_007294.4(BRCA1):c.2089T>C (p.Phe697Leu)

SNV
Germline

Chr17:43093442

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10597824

rs_2053828310

3 SubmittersRCV001342283 RCV003158773

NM_007294.4(BRCA1):c.1910C>G (p.Thr637Ser)

SNV
Germline

Chr17:43093621

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10598202

rs_1555590925

4 SubmittersRCV001343341 RCV002412077 RCV004998839

NM_007294.4(BRCA1):c.1852A>T (p.Arg618Trp)

SNV
Germline

Chr17:43093679

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10598316

rs_2053872916

2 SubmittersRCV001342124 RCV003158772

NM_007294.4(BRCA1):c.1751C>T (p.Ala584Val)

SNV
Germline

Chr17:43093780

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10598526

rs_2053890440

2 SubmittersRCV001352465 RCV003158815

NM_007294.4(BRCA1):c.1473G>T (p.Gln491His)

SNV
Germline

Chr17:43094058

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10599103

rs_2053933782

2 SubmittersRCV001343063 RCV003158778

NM_007294.4(BRCA1):c.1219G>A (p.Ala407Thr)

SNV
Germline

Chr17:43094312

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10599613

rs_2053973967

2 SubmittersRCV001338160 RCV003158762

NM_007294.4(BRCA1):c.1093A>G (p.Arg365Gly)

SNV
Germline

Chr17:43094438

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10599873

rs_398122627

4 SubmittersRCV001343227 RCV002447409

NM_007294.4(BRCA1):c.1031C>G (p.Ala344Gly)

SNV
Germline

Chr17:43094500

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10599995

rs_876658636

2 SubmittersRCV001351887 RCV003158811

NM_007294.4(BRCA1):c.905C>T (p.Ala302Val)

SNV
Germline

Chr17:43094626

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10600263

rs_1418676444

4 SubmittersRCV001338690 RCV002447393 RCV006446113

NM_000059.4(BRCA2):c.1910-1G>A

SNV
Germline

Chr13:32336264

Pathogenic/Likely pathogenic

Malignant tumor of breast
Hereditary breast ovarian cancer syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA387768198

rs_1566225769

3 SubmittersRCV001358371 RCV003645230 RCV003473880

NM_000059.4(BRCA2):c.3380T>G (p.Phe1127Cys)

SNV
Germline

Chr13:32337735

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387776427

rs_2137495989

3 SubmittersRCV001358242 RCV002547687 RCV003158831

NM_000059.4(BRCA2):c.3449C>T (p.Thr1150Ile)

SNV
Germline

Chr13:32337804

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387776675

rs_730881524

3 SubmittersRCV001355744 RCV002547615 RCV003158820

NM_000059.4(BRCA2):c.3923A>C (p.Glu1308Ala)

SNV
Germline

Chr13:32338278

Conflicting classifications of pathogenicity

Malignant tumor of breast
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387778833

rs_2137501297

4 SubmittersRCV001358069 RCV002322310 RCV002547685

NM_000059.4(BRCA2):c.4021T>C (p.Ser1341Pro)

SNV
Germline

Chr13:32338376

Conflicting classifications of pathogenicity

Malignant tumor of breast
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387779043

rs_2137502159

3 SubmittersRCV001358160 RCV003158829 RCV003530192

NM_000059.4(BRCA2):c.8668C>G (p.Leu2890Val)

SNV
Germline

Chr13:32376705

Conflicting classifications of pathogenicity

Malignant tumor of breast
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA387754738

rs_80359127

5 SubmittersRCV001356685 RCV001871936 RCV002447446 RCV002476633

NM_007294.4(BRCA1):c.3635C>T (p.Ser1212Leu)

SNV
Germline

Chr17:43091896

Conflicting classifications of pathogenicity

Malignant tumor of breast
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10594697

rs_886038021

3 SubmittersRCV001355871 RCV002547620 RCV003158822

NM_007294.4(BRCA1):c.3076A>G (p.Ile1026Val)

SNV
Germline

Chr17:43092455

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10595838

rs_1468925322

3 SubmittersRCV001354778 RCV001871924 RCV003158816

NM_007294.4(BRCA1):c.709G>T (p.Glu237Ter)

SNV
Germline

Chr17:43094822

Pathogenic

Malignant tumor of breast
Hereditary breast ovarian cancer syndrome

Criteria Provided
Single Submitter

CA10600668

rs_2154496548

2 SubmittersRCV001357721 RCV003645229

NM_000059.4(BRCA2):c.656C>T (p.Thr219Ile)

SNV
Germline

Chr13:32329467

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387759448

rs_2072373199

3 SubmittersRCV001363259 RCV004005290 RCV004601477

NM_000059.4(BRCA2):c.1180G>A (p.Glu394Lys)

SNV
Germline

Chr13:32332658

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387761982

rs_397507575

2 SubmittersRCV001373021 RCV003158888

NM_000059.4(BRCA2):c.1289A>G (p.Asp430Gly)

SNV
Germline

Chr13:32332767

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387762470

rs_2137469640

2 SubmittersRCV001368710 RCV003158872

NM_000059.4(BRCA2):c.1728T>G (p.Asn576Lys)

SNV
Germline

Chr13:32333206

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387765373

rs_1555282035

4 SubmittersRCV001374136 RCV003158893

NM_000059.4(BRCA2):c.1807A>C (p.Lys603Gln)

SNV
Germline

Chr13:32333285

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387765938

rs_1555282089

2 SubmittersRCV001363742 RCV003158852

NM_000059.4(BRCA2):c.1823A>G (p.Asp608Gly)

SNV
Germline

Chr13:32333301

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387766099

rs_2137475288

2 SubmittersRCV001372302 RCV003158883

NM_000059.4(BRCA2):c.1832C>T (p.Ser611Leu)

SNV
Germline

Chr13:32333310

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA6940544

rs_80358474

5 SubmittersRCV001369191 RCV003158876 RCV003478801 RCV003493851

NM_000059.4(BRCA2):c.1846T>A (p.Cys616Ser)

SNV
Germline

Chr13:32333324

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA387766337

rs_2137475583

4 SubmittersRCV001374268 RCV003158896 RCV004006845

NM_000059.4(BRCA2):c.1865C>G (p.Ala622Gly)

SNV
Germline

Chr13:32333343

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA387766515

rs_80358477

3 SubmittersRCV001363901 RCV003158853 RCV004006783

NM_000059.4(BRCA2):c.1960G>A (p.Glu654Lys)

SNV
Germline

Chr13:32336315

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast and/or ovarian cancer

Criteria Provided
Conflicting Classifications

CA387768480

rs_786203845

4 SubmittersRCV001374097 RCV002420847 RCV003492250

NM_000059.4(BRCA2):c.2218C>G (p.Pro740Ala)

SNV
Germline

Chr13:32336573

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387770655

rs_2137484346

3 SubmittersRCV001371122 RCV002432044

NM_000059.4(BRCA2):c.2443A>T (p.Met815Leu)

SNV
Germline

Chr13:32336798

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387772235

rs_786203814

2 SubmittersRCV001369055 RCV003158874

NM_000059.4(BRCA2):c.2593G>A (p.Glu865Lys)

SNV
Germline

Chr13:32336948

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387772614

rs_587782014

2 SubmittersRCV001362157 RCV003158845

NM_000059.4(BRCA2):c.2680G>C (p.Val894Leu)

SNV
Germline

Chr13:32337035

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387773420

rs_28897715

2 SubmittersRCV001368026 RCV003158868

NM_000059.4(BRCA2):c.2754C>G (p.Asn918Lys)

SNV
Germline

Chr13:32337109

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387773648

rs_753073979

3 SubmittersRCV001373969 RCV003158892

NM_000059.4(BRCA2):c.2783T>C (p.Val928Ala)

SNV
Germline

Chr13:32337138

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387773712

rs_2137489850

2 SubmittersRCV001366865 RCV003158865

NM_000059.4(BRCA2):c.2865C>G (p.Asn955Lys)

SNV
Germline

Chr13:32337220

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387773998

rs_2137490709

3 SubmittersRCV001359180 RCV003158834

NM_000059.4(BRCA2):c.3020G>A (p.Gly1007Asp)

SNV
Germline

Chr13:32337375

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387774831

rs_1566227648

3 SubmittersRCV001363502 RCV003158851

NM_000059.4(BRCA2):c.3077A>C (p.Lys1026Thr)

SNV
Germline

Chr13:32337432

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387775196

rs_1060502380

2 SubmittersRCV001372593 RCV003158885

NM_000059.4(BRCA2):c.3413A>G (p.Gln1138Arg)

SNV
Germline

Chr13:32337768

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387776495

rs_80358584

2 SubmittersRCV001362912 RCV003158849

NM_000059.4(BRCA2):c.3721T>C (p.Phe1241Leu)

SNV
Germline

Chr13:32338076

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387778085

rs_2137499348

3 SubmittersRCV001366256 RCV001509439 RCV003158863

NM_000059.4(BRCA2):c.3757G>T (p.Ala1253Ser)

SNV
Germline

Chr13:32338112

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387778206

rs_1226138707

2 SubmittersRCV001372595 RCV003158886

NM_000059.4(BRCA2):c.3886A>G (p.Asn1296Asp)

SNV
Germline

Chr13:32338241

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387778755

rs_1427687544

3 SubmittersRCV001368249 RCV002368190

NM_000059.4(BRCA2):c.3967A>G (p.Lys1323Glu)

SNV
Germline

Chr13:32338322

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387778925

rs_80358648

2 SubmittersRCV001368256 RCV003158870

NM_000059.4(BRCA2):c.4186C>A (p.Gln1396Lys)

SNV
Germline

Chr13:32338541

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387780143

rs_776286311

3 SubmittersRCV001365628 RCV002329371

NM_000059.4(BRCA2):c.4243G>C (p.Glu1415Gln)

SNV
Germline

Chr13:32338598

Conflicting classifications of pathogenicity

not specified
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387780398

rs_397507327

4 SubmittersRCV001732136 RCV001361209 RCV002329359

NM_000059.4(BRCA2):c.4273G>A (p.Asp1425Asn)

SNV
Germline

Chr13:32338628

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387780563

rs_2137504699

3 SubmittersRCV001368711 RCV003158873

NM_000059.4(BRCA2):c.4556C>A (p.Pro1519His)

SNV
Germline

Chr13:32338911

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387781814

rs_587781534

2 SubmittersRCV001373749 RCV003158891

NM_000059.4(BRCA2):c.4571T>G (p.Phe1524Cys)

SNV
Germline

Chr13:32338926

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387781869

rs_1743560254

3 SubmittersRCV001360342 RCV002341753

NM_000059.4(BRCA2):c.4643A>C (p.Glu1548Ala)

SNV
Germline

Chr13:32338998

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387782155

rs_1428922464

3 SubmittersRCV001371132 RCV002329392

NM_000059.4(BRCA2):c.4705T>A (p.Tyr1569Asn)

SNV
Germline

Chr13:32339060

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387782910

rs_2137509279

2 SubmittersRCV001361459 RCV003158841

NM_000059.4(BRCA2):c.4740T>G (p.Cys1580Trp)

SNV
Germline

Chr13:32339095

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387783054

rs_2137509697

2 SubmittersRCV001369124 RCV003158875

NM_000059.4(BRCA2):c.4954G>A (p.Ala1652Thr)

SNV
Germline

Chr13:32339309

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387783769

rs_80358720

3 SubmittersRCV001372276 RCV003158882

NM_000059.4(BRCA2):c.5237C>T (p.Ser1746Phe)

SNV
Germline

Chr13:32339592

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
not specified
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387784676

rs_2137515447

3 SubmittersRCV001360569 RCV003321832 RCV003158839

NM_000059.4(BRCA2):c.5264A>G (p.Glu1755Gly)

SNV
Germline

Chr13:32339619

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387784731

rs_2137515724

3 SubmittersRCV001370851 RCV002341801

NM_000059.4(BRCA2):c.5273A>G (p.Asn1758Ser)

SNV
Germline

Chr13:32339628

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
not specified
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA387784748

rs_2072525612

6 SubmittersRCV001363645 RCV001820063 RCV002350682 RCV004006780 RCV006258555

NM_000059.4(BRCA2):c.5336T>C (p.Val1779Ala)

SNV
Germline

Chr13:32339691

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387784956

rs_2072526947

3 SubmittersRCV001370957 RCV003158879

NM_000059.4(BRCA2):c.5401C>T (p.Pro1801Ser)

SNV
Germline

Chr13:32339756

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387785325

rs_2072528556

3 SubmittersRCV001372271 RCV002350714

NM_000059.4(BRCA2):c.5592C>A (p.Asp1864Glu)

SNV
Germline

Chr13:32339947

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387786042

rs_1198204828

3 SubmittersRCV001360418 RCV002051938 RCV003158837

NM_000059.4(BRCA2):c.5627A>G (p.Glu1876Gly)

SNV
Germline

Chr13:32339982

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387786117

rs_2137519300

3 SubmittersRCV001362549 RCV003158848

NM_000059.4(BRCA2):c.5915C>T (p.Ala1972Val)

SNV
Germline

Chr13:32340270

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387787521

rs_2137522256

2 SubmittersRCV001365250 RCV003158859

NM_000059.4(BRCA2):c.5950A>G (p.Lys1984Glu)

SNV
Germline

Chr13:32340305

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387787587

rs_2137522625

2 SubmittersRCV001367815 RCV003158867

NM_000059.4(BRCA2):c.5960A>G (p.Gln1987Arg)

SNV
Germline

Chr13:32340315

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA387787607

rs_1364714267

5 SubmittersRCV001372768 RCV002357270 RCV006258564

NM_000059.4(BRCA2):c.6249T>G (p.Phe2083Leu)

SNV
Germline

Chr13:32340604

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA387788927

rs_2072550078

4 SubmittersRCV001373389 RCV002368207 RCV004998859

NM_000059.4(BRCA2):c.6344A>T (p.Glu2115Val)

SNV
Germline

Chr13:32340699

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387789112

rs_397507370

3 SubmittersRCV001360442 RCV003158838

NM_000059.4(BRCA2):c.6677A>C (p.Glu2226Ala)

SNV
Germline

Chr13:32341032

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387790547

rs_1281267586

2 SubmittersRCV001365399 RCV003158860

NM_000059.4(BRCA2):c.6703A>T (p.Met2235Leu)

SNV
Germline

Chr13:32341058

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387790648

rs_2072563047

3 SubmittersRCV001364785 RCV003158858

NM_000059.4(BRCA2):c.6785T>C (p.Met2262Thr)

SNV
Germline

Chr13:32341140

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387791287

rs_80358904

2 SubmittersRCV001368640 RCV003158871

NM_000059.4(BRCA2):c.7735A>G (p.Ile2579Val)

SNV
Germline

Chr13:32357859

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387745580

rs_2137567207

2 SubmittersRCV001369251 RCV002404878

NM_000059.4(BRCA2):c.9220C>G (p.Leu3074Val)

SNV
Germline

Chr13:32380109

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387758445

rs_151275325

2 SubmittersRCV001370272 RCV004037465

NM_007294.4(BRCA1):c.4079G>A (p.Ser1360Asn)

SNV
Germline

Chr17:43091452

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10593801

rs_2154265376

4 SubmittersRCV001370114 RCV003120584 RCV003158877

NM_007294.4(BRCA1):c.4001G>A (p.Gly1334Asp)

SNV
Germline

Chr17:43091530

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Pancreatic cancer, susceptibility to, 4
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 1
Fanconi anemia, complementation group S

Criteria Provided
Conflicting Classifications

CA10593960

rs_2053486938

3 SubmittersRCV001361614 RCV003158843 RCV002493845

NM_007294.4(BRCA1):c.3972G>A (p.Met1324Ile)

SNV
Germline

Chr17:43091559

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA10594025

rs_2053491671

3 SubmittersRCV001361589 RCV003158842 RCV004005280

NM_007294.4(BRCA1):c.3853C>T (p.Leu1285Phe)

SNV
Germline

Chr17:43091678

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10594256

rs_2154281078

2 SubmittersRCV001365434 RCV003158861

NM_007294.4(BRCA1):c.3742G>A (p.Ala1248Thr)

SNV
Germline

Chr17:43091789

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10594485

rs_2053534351

2 SubmittersRCV001373118 RCV003158889

NM_007294.4(BRCA1):c.3626T>C (p.Leu1209Ser)

SNV
Germline

Chr17:43091905

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10594717

rs_786203884

2 SubmittersRCV001371070 RCV003158880

NM_007294.4(BRCA1):c.3566G>T (p.Ser1189Ile)

SNV
Germline

Chr17:43091965

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10594830

rs_2154302764

2 SubmittersRCV001361124 RCV003158840

NM_007294.4(BRCA1):c.3533G>T (p.Ser1178Ile)

SNV
Germline

Chr17:43091998

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10594902

rs_1294360179

2 SubmittersRCV001363206 RCV003158850

NM_007294.4(BRCA1):c.3521C>T (p.Ser1174Phe)

SNV
Germline

Chr17:43092010

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10594926

rs_1055368753

2 SubmittersRCV001359965 RCV003158835

NM_007294.4(BRCA1):c.3478A>G (p.Lys1160Glu)

SNV
Germline

Chr17:43092053

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10595024

rs_2154311006

2 SubmittersRCV001373514 RCV003158890

NM_007294.4(BRCA1):c.3191G>C (p.Ser1064Thr)

SNV
Germline

Chr17:43092340

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10595605

rs_2154337756

3 SubmittersRCV001367459 RCV002447478

NM_007294.4(BRCA1):c.3190A>G (p.Ser1064Gly)

SNV
Germline

Chr17:43092341

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10595607

rs_273899702

2 SubmittersRCV001364063 RCV003158854

NM_007294.4(BRCA1):c.3163G>T (p.Gly1055Cys)

SNV
Germline

Chr17:43092368

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10595657

rs_749417532

2 SubmittersRCV001374151 RCV003158894

NM_007294.4(BRCA1):c.3088A>G (p.Asn1030Asp)

SNV
Germline

Chr17:43092443

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10595814

rs_2154343150

2 SubmittersRCV001364711 RCV003158857

NM_007294.4(BRCA1):c.2687G>A (p.Ser896Asn)

SNV
Germline

Chr17:43092844

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA10596626

rs_2053714262

6 SubmittersRCV001360417 RCV003158836 RCV004005270

NM_007294.4(BRCA1):c.2371C>A (p.Leu791Ile)

SNV
Germline

Chr17:43093160

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10597267

rs_1567795916

2 SubmittersRCV001370700 RCV003158878

NM_007294.4(BRCA1):c.2320G>A (p.Gly774Ser)

SNV
Germline

Chr17:43093211

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10597364

rs_1555589917

2 SubmittersRCV001374209 RCV003158895

NM_007294.4(BRCA1):c.1876G>T (p.Val626Leu)

SNV
Germline

Chr17:43093655

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10598267

rs_2053869047

2 SubmittersRCV001364636 RCV003158855

NM_007294.4(BRCA1):c.1782G>A (p.Met594Ile)

SNV
Germline

Chr17:43093749

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10598457

rs_2154423571

2 SubmittersRCV001362293 RCV003158847

NM_007294.4(BRCA1):c.1627G>C (p.Gly543Arg)

SNV
Germline

Chr17:43093904

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10598785

rs_2154433275

2 SubmittersRCV001365650 RCV003158862

NM_007294.4(BRCA1):c.1591A>G (p.Met531Val)

SNV
Germline

Chr17:43093940

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10598864

rs_2053916000

2 SubmittersRCV001372801 RCV003158887

NM_007294.4(BRCA1):c.1440T>G (p.Asn480Lys)

SNV
Germline

Chr17:43094091

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA10599160

rs_2154446030

4 SubmittersRCV001370275 RCV002395839 RCV004006821

NM_007294.4(BRCA1):c.1344C>G (p.His448Gln)

SNV
Germline

Chr17:43094187

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10599361

rs_1395644015

2 SubmittersRCV001368041 RCV003158869

NM_007294.4(BRCA1):c.1315G>C (p.Ala439Pro)

SNV
Germline

Chr17:43094216

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10599421

rs_1064794098

2 SubmittersRCV001366549 RCV003158864

NM_007294.4(BRCA1):c.1198G>A (p.Asp400Asn)

SNV
Germline

Chr17:43094333

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10599656

rs_2053979139

2 SubmittersRCV001370216 RCV004037460

NM_007294.4(BRCA1):c.1051A>C (p.Lys351Gln)

SNV
Germline

Chr17:43094480

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10599960

rs_1178253962

2 SubmittersRCV001372331 RCV003158884

NM_007294.4(BRCA1):c.972T>G (p.Ser324Arg)

SNV
Germline

Chr17:43094559

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10600118

rs_2154481654

2 SubmittersRCV001371638 RCV003158881

NM_007294.4(BRCA1):c.905C>G (p.Ala302Gly)

SNV
Germline

Chr17:43094626

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10600264

rs_1418676444

2 SubmittersRCV001362128 RCV003158844

NM_007294.4(BRCA1):c.883G>T (p.Asp295Tyr)

SNV
Germline

Chr17:43094648

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10600308

rs_2154487384

2 SubmittersRCV001367639 RCV003158866

NM_007294.4(BRCA1):c.854A>C (p.His285Pro)

SNV
Germline

Chr17:43094677

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10600376

rs_2154489161

2 SubmittersRCV001364708 RCV003158856

NM_000059.4(BRCA2):c.-39-1G>C

SNV
Germline

Chr13:32316421

Pathogenic/Likely pathogenic

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA2499222006

rs_1060499566

4 SubmittersRCV001379392 RCV003234794 RCV005520520

NM_007194.4(CHEK2):c.684-2A>G

SNV
Germline

Chr22:28712019

Pathogenic/Likely pathogenic

Familial cancer of breast
Hereditary cancer-predisposing syndrome
CHEK2-related cancer predisposition
Bone osteosarcoma
Prostate cancer
Colorectal cancer
Familial cancer of breast
Hereditary breast ovarian cancer syndrome
CHEK2-related cancer predisposition

Criteria Provided
Multiple Submitters
No Conflicts

CA411103532

rs_2053419665

9 SubmittersRCV001377776 RCV002368214 RCV002499777 RCV004764801 RCV005361582

NM_000059.4(BRCA2):c.444T>A (p.Cys148Ter)

SNV
Germline

Chr13:32326119

Pathogenic

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Multiple Submitters
No Conflicts

CA387757067

rs_2137449498

2 SubmittersRCV001389530 RCV003136060

NM_000059.4(BRCA2):c.724A>T (p.Lys242Ter)

SNV
Germline

Chr13:32330961

Pathogenic

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Single Submitter

CA387760002

rs_2137461517

2 SubmittersRCV001385053 RCV004762141

NM_000059.4(BRCA2):c.1018G>T (p.Glu340Ter)

SNV
Germline

Chr13:32332496

Pathogenic

Hereditary breast ovarian cancer syndrome

Criteria Provided
Single Submitter

CA387761113

rs_2137466889

1 SubmittersRCV001389884

NM_000059.4(BRCA2):c.1156G>T (p.Glu386Ter)

SNV
Germline

Chr13:32332634

Pathogenic

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA387761898

rs_1593892076

3 SubmittersRCV001388006 RCV002357294

NM_000059.4(BRCA2):c.1228A>T (p.Lys410Ter)

SNV
Germline

Chr13:32332706

Pathogenic

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA387762175

rs_2137468996

2 SubmittersRCV001387666 RCV004951663

NM_000059.4(BRCA2):c.2173A>T (p.Lys725Ter)

SNV
Germline

Chr13:32336528

Pathogenic

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA387770319

rs_431825294

2 SubmittersRCV001390181 RCV003169952

NM_000059.4(BRCA2):c.2409T>A (p.Tyr803Ter)

SNV
Germline

Chr13:32336764

Pathogenic

Hereditary breast ovarian cancer syndrome

Criteria Provided
Single Submitter

CA387772024

rs_80358504

1 SubmittersRCV001381778

NM_000059.4(BRCA2):c.2410G>T (p.Glu804Ter)

SNV
Germline

Chr13:32336765

Pathogenic

Hereditary breast ovarian cancer syndrome

Criteria Provided
Single Submitter

CA387772034

rs_2137486181

1 SubmittersRCV001387561

NM_000059.4(BRCA2):c.2809C>T (p.Gln937Ter)

SNV
Germline

Chr13:32337164

Pathogenic

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Multiple Submitters
No Conflicts

CA387773764

rs_2137490179

3 SubmittersRCV001385424 RCV002438889 RCV005866997

NM_000059.4(BRCA2):c.3472G>T (p.Glu1158Ter)

SNV
Germline

Chr13:32337827

Pathogenic

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Multiple Submitters
No Conflicts

CA387776807

rs_1555283258

2 SubmittersRCV001382445 RCV003316839

NM_000059.4(BRCA2):c.4057G>T (p.Glu1353Ter)

SNV
Germline

Chr13:32338412

Pathogenic

Hereditary breast ovarian cancer syndrome

Criteria Provided
Single Submitter

CA387779124

rs_2137502511

1 SubmittersRCV001386796

NM_000059.4(BRCA2):c.4318A>T (p.Lys1440Ter)

SNV
Germline

Chr13:32338673

Pathogenic

Hereditary breast ovarian cancer syndrome

Criteria Provided
Single Submitter

CA387780815

rs_80358668

1 SubmittersRCV001384652

NM_000059.4(BRCA2):c.5217T>G (p.Tyr1739Ter)

SNV
Germline

Chr13:32339572

Pathogenic

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA387784629

rs_80358746

2 SubmittersRCV001387235 RCV002341828

NM_000059.4(BRCA2):c.5899A>T (p.Lys1967Ter)

SNV
Germline

Chr13:32340254

Pathogenic

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA247511916

rs_988285170

2 SubmittersRCV001389041 RCV004037701

NM_000059.4(BRCA2):c.5947G>T (p.Gly1983Ter)

SNV
Germline

Chr13:32340302

Pathogenic

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA387787580

rs_1555284478

2 SubmittersRCV001387082 RCV004601487

NM_000059.4(BRCA2):c.6284C>A (p.Ser2095Ter)

SNV
Germline

Chr13:32340639

Pathogenic

Hereditary breast ovarian cancer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA387788999

rs_1593908124

2 SubmittersRCV001383956

NM_000059.4(BRCA2):c.6407T>G (p.Leu2136Ter)

SNV
Germline

Chr13:32340762

Pathogenic/Likely pathogenic

Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA387789252

rs_2137527241

2 SubmittersRCV001381720 RCV006453666

NM_000059.4(BRCA2):c.6920C>A (p.Ser2307Ter)

SNV
Germline

Chr13:32344636

Pathogenic

Hereditary breast ovarian cancer syndrome

Criteria Provided
Single Submitter

CA387792924

rs_2137537327

1 SubmittersRCV001386206

NM_000059.4(BRCA2):c.7018G>T (p.Glu2340Ter)

SNV
Germline

Chr13:32354871

Pathogenic

Hereditary breast ovarian cancer syndrome

Criteria Provided
Single Submitter

CA387794103

rs_2137555167

1 SubmittersRCV001385305

NM_000059.4(BRCA2):c.8437G>T (p.Gly2813Ter)

SNV
Germline

Chr13:32370507

Pathogenic

Hereditary breast ovarian cancer syndrome

Criteria Provided
Single Submitter

CA387752558

rs_2137597605

1 SubmittersRCV001382438

NM_000059.4(BRCA2):c.8487+1G>C

SNV
Germline

Chr13:32370558

Pathogenic

Hereditary breast ovarian cancer syndrome

Criteria Provided
Single Submitter

CA387752649

rs_81002798

1 SubmittersRCV001390836

NM_000059.4(BRCA2):c.8487+2T>A

SNV
Germline

Chr13:32370559

Pathogenic

Hereditary breast ovarian cancer syndrome

Criteria Provided
Single Submitter

CA387752650

rs_886040944

1 SubmittersRCV001384152

NM_000059.4(BRCA2):c.8517C>G (p.Tyr2839Ter)

SNV
Germline

Chr13:32370985

Pathogenic

Hereditary breast ovarian cancer syndrome

Criteria Provided
Single Submitter

CA387752710

rs_863224315

1 SubmittersRCV001384169

NM_000059.4(BRCA2):c.8633-2A>C

SNV
Germline

Chr13:32376668

Pathogenic/Likely pathogenic

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA387754590

rs_81002886

2 SubmittersRCV001381420 RCV004951656

NM_000059.4(BRCA2):c.8755-2A>T

SNV
Germline

Chr13:32379315

Pathogenic/Likely pathogenic

Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA387755675

rs_1566252482

3 SubmittersRCV001382127 RCV001800992 RCV002377568

NM_000059.4(BRCA2):c.8857G>T (p.Glu2953Ter)

SNV
Germline

Chr13:32379419

Pathogenic

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA387756319

rs_775261666

2 SubmittersRCV001382121 RCV002377567

NM_000059.4(BRCA2):c.9699T>A (p.Cys3233Ter)

SNV
Germline

Chr13:32398212

Pathogenic/Likely pathogenic

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 2
BRCA2-related cancer predisposition

Criteria Provided
Multiple Submitters
No Conflicts

CA387765360

rs_746413844

6 SubmittersRCV001390686 RCV003284297 RCV003473999 RCV004006852 RCV005361596

NM_007294.4(BRCA1):c.4357+2T>A

SNV
Germline

Chr17:43082402

Pathogenic

Hereditary breast ovarian cancer syndrome

Criteria Provided
Single Submitter

CA10592999

rs_80358152

1 SubmittersRCV001390340

NM_007294.4(BRCA1):c.3381T>A (p.Tyr1127Ter)

SNV
Germline

Chr17:43092150

Pathogenic

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA10595215

rs_781319410

2 SubmittersRCV001383705 RCV004951660

NM_007294.4(BRCA1):c.2500G>T (p.Gly834Ter)

SNV
Germline

Chr17:43093031

Pathogenic

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA10596997

rs_786202215

2 SubmittersRCV001390308 RCV004951665

NM_007294.4(BRCA1):c.1009G>T (p.Glu337Ter)

SNV
Germline

Chr17:43094522

Pathogenic

Hereditary breast ovarian cancer syndrome

Criteria Provided
Single Submitter

CA10600043

rs_2054008789

1 SubmittersRCV001388059

NM_000059.4(BRCA2):c.6621A>G (p.Thr2207=)

SNV
Germline

Chr13:32340976

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA483439312

rs_1433893010

3 SubmittersRCV001399965 RCV003234063 RCV004601488

NM_000059.4(BRCA2):c.7436-5G>A

SNV
Germline

Chr13:32356423

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA2499222287

rs_2137561628

3 SubmittersRCV001411487 RCV005520526

NM_000059.4(BRCA2):c.7875A>G (p.Arg2625=)

SNV
Germline

Chr13:32362592

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
not specified
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA483260908

rs_2137577015

3 SubmittersRCV001404446 RCV002268481 RCV002413954

NM_007294.4(BRCA1):c.4096+9A>G

SNV
Germline

Chr17:43091426

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10593746

rs_2154264165

3 SubmittersRCV001414992 RCV004017837 RCV006258580

NM_058216.3(RAD51C):c.706-1G>A

SNV
Germline/somatic

Chr17:58709858

Pathogenic/Likely pathogenic

Fanconi anemia complementation group O
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 3
Diffuse midline glioma, H3 K27M-mutant

Criteria Provided
Multiple Submitters
No Conflicts

CA400353034

rs_1555599090

4 SubmittersRCV001859339 RCV002298949 RCV001779207 RCV006254275

NM_000059.4(BRCA2):c.476-8A>C

SNV
Germline

Chr13:32326234

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA609453804

rs_1311844326

3 SubmittersRCV001435635 RCV004951747

NM_000059.4(BRCA2):c.632-8T>C

SNV
Germline

Chr13:32329435

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA2082756434

rs_2072372672

3 SubmittersRCV001428824 RCV006258589 RCV006548314

NM_000059.4(BRCA2):c.7436-12A>G

SNV
Germline

Chr13:32356416

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA2499222285

rs_2137561595

2 SubmittersRCV001448657 RCV001524719

NM_000059.4(BRCA2):c.7767C>T (p.Pro2589=)

SNV
Germline

Chr13:32357891

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
not specified
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA483439268

rs_2072711060

6 SubmittersRCV001440096 RCV001800995 RCV002414049 RCV003230674 RCV004007012

NM_000059.4(BRCA2):c.9648+9A>C

SNV
Germline

Chr13:32397053

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2499222386

rs_2137659925

2 SubmittersRCV001433086 RCV004998894

NM_007294.4(BRCA1):c.4755A>C (p.Pro1585=)

SNV
Germline

Chr17:43071159

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA500231863

rs_2153871795

2 SubmittersRCV001421289 RCV004998889

NM_000059.4(BRCA2):c.10013C>A (p.Ser3338Ter)

SNV
Germline

Chr13:32398526

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Familial cancer of breast
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387767714

rs_1593202166

4 SubmittersRCV001465636 RCV002272472 RCV003327517 RCV004038643

NM_007294.4(BRCA1):c.4539C>T (p.Cys1513=)

SNV
Germline

Chr17:43074467

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA500146643

rs_2052610048

3 SubmittersRCV001477540 RCV002342076 RCV004998917

NM_007294.4(BRCA1):c.2358G>A (p.Leu786=)

SNV
Germline

Chr17:43093173

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
BRCA1-related cancer predisposition
Condition: not provided

Criteria Provided
Conflicting Classifications

CA500233006

rs_2053774346

5 SubmittersRCV001454344 RCV002259128 RCV004804182 RCV004998906

NM_007294.4(BRCA1):c.1680T>C (p.Asp560=)

SNV
Germline

Chr17:43093851

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA500232877

rs_2154430469

2 SubmittersRCV001461443 RCV004998912

NM_000059.4(BRCA2):c.-39-8T>C

SNV
Germline

Chr13:32316414

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA697324399

rs_1268066075

2 SubmittersRCV001492607 RCV004699402

NM_000059.4(BRCA2):c.-13A>G

SNV
Germline

Chr13:32316448

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA2499222009

rs_2138697841

2 SubmittersRCV001494149 RCV004007184

NM_000059.4(BRCA2):c.717T>C (p.Ser239=)

SNV
Germline

Chr13:32330954

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA483274416

rs_2137461423

5 SubmittersRCV001497810 RCV002377864 RCV004794539 RCV004782751

NM_000059.4(BRCA2):c.6841+8T>G

SNV
Germline

Chr13:32341204

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
not specified
Condition: not provided
Familial pancreatic carcinoma

Criteria Provided
Conflicting Classifications

CA2499222256

rs_2137531137

4 SubmittersRCV001482271 RCV001801000 RCV001810739 RCV005369893

NM_000059.4(BRCA2):c.10225C>T (p.Gln3409Ter)

SNV
Germline

Chr13:32398738

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified

Criteria Provided
Conflicting Classifications

CA387768546

rs_2137667834

3 SubmittersRCV001493315 RCV002432384 RCV003331170

NM_000059.4(BRCA2):c.883G>A (p.Val295Ile)

SNV
Germline

Chr13:32332361

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
BRCA2-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA387760644

rs_1254525537

6 SubmittersRCV001526230 RCV002568121 RCV004528506 RCV006258650

NM_000059.4(BRCA2):c.2368G>A (p.Glu790Lys)

SNV
Germline

Chr13:32336723

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA6940601

rs_398122746

4 SubmittersRCV001524153 RCV005057474

NM_000059.4(BRCA2):c.2451G>C (p.Lys817Asn)

SNV
Germline

Chr13:32336806

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387772279

rs_767686668

4 SubmittersRCV001523847 RCV005867144 RCV006616485

NM_000059.4(BRCA2):c.5434G>A (p.Glu1812Lys)

SNV
Germline

Chr13:32339789

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
8 conditions
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387785496

rs_80358767

5 SubmittersRCV001524201 RCV002488342 RCV006557488

NM_000059.4(BRCA2):c.5878T>G (p.Cys1960Gly)

SNV
Germline

Chr13:32340233

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387787455

rs_1566233377

4 SubmittersRCV001524612 RCV006467607

NM_000059.4(BRCA2):c.6393A>T (p.Lys2131Asn)

SNV
Germline

Chr13:32340748

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
Breast-ovarian cancer, familial, susceptibility to, 2
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA6940948

rs_765669556

6 SubmittersRCV001525253 RCV001873661 RCV005419164 RCV005361643

NM_000059.4(BRCA2):c.7956G>A (p.Val2652=)

SNV
Germline

Chr13:32362673

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA483261027

rs_2137577856

3 SubmittersRCV001524625 RCV002071881

NM_000059.4(BRCA2):c.8243G>T (p.Gly2748Val)

SNV
Germline

Chr13:32363445

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387749910

rs_80359071

3 SubmittersRCV001524453 RCV001872034

NM_000059.4(BRCA2):c.9219C>T (p.Asp3073=)

SNV
Germline

Chr13:32380108

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA483262110

rs_2137625533

5 SubmittersRCV001524027 RCV003478866 RCV003645232 RCV004007249

NM_000059.4(BRCA2):c.9518G>A (p.Cys3173Tyr)

SNV
Germline

Chr13:32396914

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387762932

rs_2073040056

3 SubmittersRCV001526085 RCV003645233

NM_000059.4(BRCA2):c.10117C>T (p.Pro3373Ser)

SNV
Germline

Chr13:32398630

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387768055

rs_2137666781

3 SubmittersRCV001526161 RCV003645234

NM_007294.4(BRCA1):c.3808T>C (p.Cys1270Arg)

SNV
Germline

Chr17:43091723

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10594353

rs_2154285914

4 SubmittersRCV001524990 RCV003771594

NM_007294.4(BRCA1):c.2146A>G (p.Ser716Gly)

SNV
Germline

Chr17:43093385

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10597713

rs_2053817086

3 SubmittersRCV001525954 RCV002568832

NM_007294.4(BRCA1):c.1855C>T (p.His619Tyr)

SNV
Germline

Chr17:43093676

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified

Criteria Provided
Conflicting Classifications

CA10598310

rs_773212667

4 SubmittersRCV001524189 RCV003315259 RCV003399323

NM_007294.4(BRCA1):c.1206G>T (p.Glu402Asp)

SNV
Germline

Chr17:43094325

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10599638

rs_1283231905

4 SubmittersRCV001526082 RCV001873688

NM_007294.4(BRCA1):c.135-15C>A

SNV
Germline

Chr17:43106548

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA2499224630

rs_397507185

2 SubmittersRCV001525974 RCV002070331

NM_000059.4(BRCA2):c.2419G>A (p.Val807Ile)

SNV
Germline

Chr13:32336774

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA387772083

rs_2137486258

4 SubmittersRCV001527056 RCV003158899 RCV003530194 RCV004779128

NM_000059.4(BRCA2):c.5632A>C (p.Asn1878His)

SNV
Germline

Chr13:32339987

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387786128

rs_397507358

4 SubmittersRCV001552453 RCV001882631 RCV002343725

NM_007294.4(BRCA1):c.1996C>A (p.Leu666Ile)

SNV
Germline

Chr17:43093535

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10598020

rs_1555590709

7 SubmittersRCV001562842 RCV001865983 RCV004008935 RCV002258303

NM_007294.4(BRCA1):c.1395T>G (p.Tyr465Ter)

SNV
Germline

Chr17:43094136

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA10599254

rs_2154448397

4 SubmittersRCV001568996 RCV002388605 RCV002569044

NM_000059.4(BRCA2):c.9502-40T>A

SNV
Germline

Chr13:32396858

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA247507876

rs_563731281

3 SubmittersRCV002568492 RCV002256822 RCV001576751

NM_000059.4(BRCA2):c.4034A>G (p.Asp1345Gly)

SNV
Germline

Chr13:32338389

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387779075

rs_2137502285

4 SubmittersRCV001581786 RCV001866138 RCV003158907

NM_000059.4(BRCA2):c.1897A>G (p.Asn633Asp)

SNV
Germline

Chr13:32333375

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Familial pancreatic carcinoma

Criteria Provided
Conflicting Classifications

CA387766797

rs_2137476122

6 SubmittersRCV002820189 RCV004999814 RCV003157256 RCV005362889

NM_000059.4(BRCA2):c.5017A>T (p.Thr1673Ser)

SNV
Germline

Chr13:32339372

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA6940841

rs_746274489

4 SubmittersRCV002343124 RCV003096566 RCV004785603

NM_000059.4(BRCA2):c.8789A>C (p.Asn2930Thr)

SNV
Germline

Chr13:32379351

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387755905

rs_397508008

2 SubmittersRCV003008354 RCV004948886

NM_000059.4(BRCA2):c.9434T>C (p.Val3145Ala)

SNV
Germline

Chr13:32394866

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387761554

rs_2073024407

2 SubmittersRCV002374005 RCV003530258

NM_000059.4(BRCA2):c.151G>T (p.Glu51Ter)

SNV
Germline

Chr13:32319160

Pathogenic

Hereditary breast ovarian cancer syndrome

Criteria Provided
Single Submitter

CA387754284

rs_1566215788

1 SubmittersRCV003079158

NM_000059.4(BRCA2):c.3795T>A (p.Cys1265Ter)

SNV
Germline

Chr13:32338150

Pathogenic

Hereditary breast ovarian cancer syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA387778391

rs_2137500050

2 SubmittersRCV002635358 RCV003464574

NM_000059.4(BRCA2):c.3895G>T (p.Glu1299Ter)

SNV
Germline

Chr13:32338250

Pathogenic

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA387778778

rs_2137501010

2 SubmittersRCV005239365 RCV002366366

NM_000059.4(BRCA2):c.4126G>T (p.Gly1376Ter)

SNV
Germline

Chr13:32338481

Pathogenic

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA387779355

rs_2137503142

2 SubmittersRCV001994544 RCV003348688

NM_000059.4(BRCA2):c.4729G>T (p.Glu1577Ter)

SNV
Germline

Chr13:32339084

Pathogenic

Hereditary breast ovarian cancer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA387783005

rs_878853586

2 SubmittersRCV003062574

NM_000059.4(BRCA2):c.5467A>T (p.Lys1823Ter)

SNV
Germline

Chr13:32339822

Pathogenic

Familial cancer of breast
Hereditary breast ovarian cancer syndrome

Criteria Provided
Single Submitter

CA387785666

rs_276174858

2 SubmittersRCV002250809 RCV003094069

NM_000059.4(BRCA2):c.6193C>T (p.Gln2065Ter)

SNV
Germline

Chr13:32340548

Pathogenic

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA387788821

rs_2137525105

2 SubmittersRCV003644824 RCV005784420

NM_000059.4(BRCA2):c.7252A>T (p.Arg2418Ter)

SNV
Germline

Chr13:32355105

Pathogenic

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA387740481

rs_80358953

2 SubmittersRCV001877120 RCV004601561

NM_000059.4(BRCA2):c.7588C>T (p.Gln2530Ter)

SNV
Germline

Chr13:32356580

Pathogenic

Hereditary breast ovarian cancer syndrome

Criteria Provided
Single Submitter

CA387743872

rs_2548541662

1 SubmittersRCV003062578

NM_000059.4(BRCA2):c.7969A>T (p.Lys2657Ter)

SNV
Germline

Chr13:32362686

Pathogenic

Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA387747327

rs_2137577993

3 SubmittersRCV003087398 RCV006259393

NM_000059.4(BRCA2):c.8219T>G (p.Leu2740Ter)

SNV
Germline

Chr13:32363421

Pathogenic

Hereditary breast ovarian cancer syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005199999

NM_000059.4(BRCA2):c.8530G>T (p.Glu2844Ter)

SNV
Germline

Chr13:32370998

Pathogenic

Hereditary breast ovarian cancer syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV006516864

NM_000059.4(BRCA2):c.8827C>T (p.Gln2943Ter)

SNV
Germline

Chr13:32379389

Pathogenic

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA387756146

rs_2137619580

2 SubmittersRCV001946769 RCV003388847 RCV004762276

NM_000059.4(BRCA2):c.9019A>T (p.Arg3007Ter)

SNV
Germline

Chr13:32379815

Pathogenic

Hereditary breast ovarian cancer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV004690648

NM_000059.4(BRCA2):c.517-1G>C

SNV
Germline

Chr13:32326498

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA387757767

rs_81002849

2 SubmittersRCV002338399 RCV005096748

NM_000059.4(BRCA2):c.7436-1G>A

SNV
Germline

Chr13:32356427

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA387742943

rs_886040939

3 SubmittersRCV002385044 RCV005097112

NM_000059.4(BRCA2):c.8632+2T>C

SNV
Germline

Chr13:32371102

Pathogenic

Hereditary breast ovarian cancer syndrome
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 2
Papillary renal cell carcinoma type 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA387753034

rs_397507998

5 SubmittersRCV001963311 RCV003475260 RCV003991046 RCV005925366 RCV004946942

NM_000059.4(BRCA2):c.9117+2T>G

SNV
Germline

Chr13:32379915

Pathogenic

Hereditary breast ovarian cancer syndrome

Criteria Provided
Single Submitter

CA387757757

rs_397508038

1 SubmittersRCV002635360

NM_000059.4(BRCA2):c.9502-1G>A

SNV
Germline

Chr13:32396897

Likely pathogenic

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA387762818

rs_1566260055

2 SubmittersRCV002374155 RCV006469944

NM_007294.4(BRCA1):c.2008G>T (p.Glu670Ter)

SNV
Germline

Chr17:43093523

Pathogenic

Hereditary breast ovarian cancer syndrome

Criteria Provided
Single Submitter

CA10597995

rs_80357029

1 SubmittersRCV002222207

NM_007294.4(BRCA1):c.2281G>T (p.Glu761Ter)

SNV
Germline

Chr17:43093250

Pathogenic

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA10597437

rs_397507198

2 SubmittersRCV002446099 RCV005098049

NM_007294.4(BRCA1):c.3635C>A (p.Ser1212Ter)

SNV
Germline

Chr17:43091896

Pathogenic

Hereditary breast ovarian cancer syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV006460710

NM_007294.4(BRCA1):c.4656C>A (p.Tyr1552Ter)

SNV
Germline

Chr17:43074350

Pathogenic

Hereditary breast ovarian cancer syndrome

Criteria Provided
Single Submitter

CA10592200

rs_80357151

1 SubmittersRCV003644835

NM_007294.4(BRCA1):c.4185+2T>G

SNV
Germline

Chr17:43090942

Pathogenic/Likely pathogenic

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA10593352

rs_431825406

2 SubmittersRCV003074987 RCV005522780

NM_000059.4(BRCA2):c.6464T>G (p.Leu2155Arg)

SNV
Germline

Chr13:32340819

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387789378

rs_2137527830

5 SubmittersRCV001730424 RCV002032709 RCV003158913

NM_007294.4(BRCA1):c.4473A>G (p.Pro1491=)

SNV
Germline

Chr17:43076499

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA500146784

rs_2154058477

3 SubmittersRCV001733314 RCV002222208

NM_000051.4(ATM):c.8268G>A (p.Lys2756=)

SNV
Germline

Chr11:108335961

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA476678218

rs_1555128642

5 SubmittersRCV001733362 RCV001806252 RCV002032729 RCV004762174

NM_007294.4(BRCA1):c.948C>A (p.Ser316Arg)

SNV
Germline

Chr17:43094583

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10600172

rs_1555592782

4 SubmittersRCV001756509 RCV002370275 RCV003120659

NM_007294.4(BRCA1):c.2129C>T (p.Thr710Ile)

SNV
Germline

Chr17:43093402

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10597745

rs_2053820830

4 SubmittersRCV001774086 RCV002034484 RCV002421258

NM_007294.4(BRCA1):c.1837A>C (p.Arg613=)

SNV
Germline

Chr17:43093694

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA500232808

rs_863224753

2 SubmittersRCV001767773 RCV002077192

NM_007294.4(BRCA1):c.3962C>T (p.Ser1321Phe)

SNV
Germline

Chr17:43091569

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10594040

rs_386833394

4 SubmittersRCV001767404 RCV002295347 RCV003158920

NM_000059.4(BRCA2):c.1063G>A (p.Val355Ile)

SNV
Germline

Chr13:32332541

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387761358

rs_2072403612

4 SubmittersRCV001755256 RCV002414329 RCV002540609

NM_000059.4(BRCA2):c.2925C>G (p.Ile975Met)

SNV
Germline

Chr13:32337280

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387774214

rs_1555282943

3 SubmittersRCV001759209 RCV001868709 RCV003158928

NM_000059.4(BRCA2):c.2512A>G (p.Lys838Glu)

SNV
Germline

Chr13:32336867

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA6940609

rs_747578057

3 SubmittersRCV001759214 RCV003530206 RCV003158929

NM_000059.4(BRCA2):c.6215C>T (p.Ser2072Phe)

SNV
Germline

Chr13:32340570

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA247513282

rs_80358862

4 SubmittersRCV001885115 RCV003237570 RCV003158932

NM_007294.4(BRCA1):c.809A>T (p.His270Leu)

SNV
Germline

Chr17:43094722

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10600461

rs_1597879864

4 SubmittersRCV002422840 RCV003238054 RCV006467923

NM_007294.4(BRCA1):c.2231C>T (p.Ala744Val)

SNV
Germline

Chr17:43093300

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10597536

rs_786204220

3 SubmittersRCV002034497 RCV003238061 RCV003158937

NM_000059.4(BRCA2):c.2096A>G (p.Gln699Arg)

SNV
Germline

Chr13:32336451

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387769876

rs_2137483250

5 SubmittersRCV001776976 RCV003158941 RCV005095112

NM_000059.4(BRCA2):c.3506A>C (p.Asn1169Thr)

SNV
Germline

Chr13:32337861

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387776976

rs_1194031580

4 SubmittersRCV001779481 RCV003158942 RCV005057611

NM_000059.4(BRCA2):c.832A>G (p.Ser278Gly)

SNV
Germline

Chr13:32332310

Conflicting classifications of pathogenicity

not specified
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387760464

rs_2137465127

4 SubmittersRCV001779527 RCV002034539 RCV003158943

NM_000059.4(BRCA2):c.7762A>G (p.Ile2588Val)

SNV
Germline

Chr13:32357886

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387745862

rs_2137567485

2 SubmittersRCV002222216

NM_000059.4(BRCA2):c.8954-2A>G

SNV
Germline

Chr13:32379748

Pathogenic/Likely pathogenic

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA387757352

rs_1135401928

3 SubmittersRCV002222219 RCV002255691

NM_000059.4(BRCA2):c.9105T>A (p.Tyr3035Ter)

SNV
Germline

Chr13:32379901

Pathogenic

Hereditary breast ovarian cancer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA387757707

rs_886040819

2 SubmittersRCV001885197

NM_007294.4(BRCA1):c.3932A>G (p.Asn1311Ser)

SNV
Germline

Chr17:43091599

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10594098

rs_2154276206

3 SubmittersRCV002222237 RCV003158945

NM_007294.4(BRCA1):c.3259G>A (p.Gly1087Arg)

SNV
Germline

Chr17:43092272

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10595468

rs_2154334028

3 SubmittersRCV002222238 RCV003158946

NM_007294.4(BRCA1):c.2335A>T (p.Thr779Ser)

SNV
Germline

Chr17:43093196

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10597334

rs_1348270931

2 SubmittersRCV002222239

NM_007294.4(BRCA1):c.1812A>C (p.Lys604Asn)

SNV
Germline

Chr17:43093719

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10598393

rs_2154420505

2 SubmittersRCV003158947 RCV002222241

NM_007294.4(BRCA1):c.1168G>A (p.Asp390Asn)

SNV
Germline

Chr17:43094363

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10599716

rs_2154472475

3 SubmittersRCV002222243 RCV003158948

NM_000059.4(BRCA2):c.682-11A>G

SNV
Germline

Chr13:32330908

Conflicting classifications of pathogenicity

not specified
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA247494124

rs_994470407

3 SubmittersRCV001822005 RCV003493874 RCV002222256

NM_000059.4(BRCA2):c.4408A>G (p.Ile1470Val)

SNV
Germline

Chr13:32338763

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387781170

rs_2137506004

4 SubmittersRCV001797967 RCV002329759 RCV003645236

NM_007294.4(BRCA1):c.1657C>T (p.His553Tyr)

SNV
Germline

Chr17:43093874

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10598720

rs_1176222161

4 SubmittersRCV001801021 RCV002397749 RCV003772203

NM_000059.4(BRCA2):c.1140T>G (p.Ser380Arg)

SNV
Germline

Chr13:32332618

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387761799

rs_2137468017

3 SubmittersRCV001801044 RCV003158950 RCV003645237

NM_000059.4(BRCA2):c.8296A>G (p.Thr2766Ala)

SNV
Germline

Chr13:32363498

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA6941207

rs_774027004

5 SubmittersRCV001801048 RCV001885241 RCV002256841

NM_000059.4(BRCA2):c.5795A>G (p.His1932Arg)

SNV
Germline

Chr13:32340150

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387787190

rs_1566233236

4 SubmittersRCV001801049 RCV002074149 RCV002359260

NM_007294.4(BRCA1):c.3136G>T (p.Glu1046Ter)

SNV
Germline

Chr17:43092395

Pathogenic

Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA10595709

rs_1555588329

3 SubmittersRCV001801061 RCV003155977 RCV005095175

NM_007294.4(BRCA1):c.4806T>G (p.Val1602=)

SNV
Germline

Chr17:43071108

Conflicting classifications of pathogenicity

not specified
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA500231825

rs_2153837157

2 SubmittersRCV001801087 RCV002541342

NM_007294.4(BRCA1):c.4007G>T (p.Ser1336Ile)

SNV
Germline

Chr17:43091524

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10593947

rs_2053486331

4 SubmittersRCV001801105 RCV001869451 RCV002370327

NM_007294.4(BRCA1):c.2853G>A (p.Arg951=)

SNV
Germline

Chr17:43092678

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA500232604

rs_2154356091

2 SubmittersRCV001801115 RCV002541344

NM_000059.4(BRCA2):c.3270G>A (p.Met1090Ile)

SNV
Germline

Chr13:32337625

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387776048

rs_80358574

4 SubmittersRCV001801120 RCV001869453 RCV002324202

NM_000059.4(BRCA2):c.7873A>C (p.Arg2625=)

SNV
Germline

Chr13:32362590

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA483260903

rs_2137577004

2 SubmittersRCV001801130 RCV005095176

NM_007294.4(BRCA1):c.2098C>G (p.Leu700Val)

SNV
Germline

Chr17:43093433

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA058825

rs_775424259

5 SubmittersRCV001801137 RCV002422860 RCV003645238 RCV004009068

NM_000059.4(BRCA2):c.8223G>A (p.Lys2741=)

SNV
Germline

Chr13:32363425

Conflicting classifications of pathogenicity

not specified
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA483439655

rs_2072759313

3 SubmittersRCV001801142 RCV002541346 RCV005782200

NM_000059.4(BRCA2):c.1430A>C (p.His477Pro)

SNV
Germline

Chr13:32332908

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387764263

rs_2137471377

3 SubmittersRCV001804289 RCV006616574

NM_000059.4(BRCA2):c.8342A>G (p.Asn2781Ser)

SNV
Germline

Chr13:32370412

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387752354

rs_1434821822

4 SubmittersRCV001804319 RCV002541396

NM_000059.4(BRCA2):c.5240A>T (p.Asn1747Ile)

SNV
Germline

Chr13:32339595

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387784681

rs_1555284128

3 SubmittersRCV001804382 RCV005057629

NM_007294.4(BRCA1):c.2558A>T (p.Asp853Val)

SNV
Germline

Chr17:43092973

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10596874

rs_2154371171

3 SubmittersRCV001804494 RCV003645239

NM_000059.4(BRCA2):c.5141A>C (p.Tyr1714Ser)

SNV
Germline

Chr13:32339496

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387784200

rs_1566231796

3 SubmittersRCV001804611 RCV002300593

NM_000059.4(BRCA2):c.9305C>T (p.Ala3102Val)

SNV
Germline

Chr13:32394737

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387760901

rs_2137652411

3 SubmittersRCV001804655 RCV002542391

NM_000059.4(BRCA2):c.5320C>T (p.Pro1774Ser)

SNV
Germline

Chr13:32339675

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA387784897

rs_2137516298

5 SubmittersRCV001804679 RCV003530210 RCV006258656

NM_000059.4(BRCA2):c.1494T>G (p.Phe498Leu)

SNV
Germline

Chr13:32332972

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA247497635

rs_900882465

4 SubmittersRCV001805254 RCV005095206

NM_000059.4(BRCA2):c.4453A>G (p.Ile1485Val)

SNV
Germline

Chr13:32338808

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387781381

rs_2072504654

3 SubmittersRCV001805343 RCV002300595

NM_007294.4(BRCA1):c.2863T>C (p.Ser955Pro)

SNV
Germline

Chr17:43092668

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10596259

rs_2154355696

4 SubmittersRCV001805400 RCV001869540

NM_000059.4(BRCA2):c.3019G>A (p.Gly1007Ser)

SNV
Germline

Chr13:32337374

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387774823

rs_2137492293

4 SubmittersRCV001805669 RCV003478878 RCV005057634

NM_000059.4(BRCA2):c.4733T>G (p.Leu1578Ter)

SNV
Germline

Chr13:32339088

Pathogenic/Likely pathogenic

Fanconi anemia complementation group D1
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Multiple Submitters
No Conflicts

CA387783030

rs_2137509604

3 SubmittersRCV001806374 RCV002541449 RCV005601798

NM_058216.3(RAD51C):c.724G>T (p.Asp242Tyr)

SNV
Germline

Chr17:58709877

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group O
Breast-ovarian cancer, familial, susceptibility to, 3
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA400353282

rs_876659188

5 SubmittersRCV001815830 RCV003375364 RCV005095239 RCV005421037 RCV006605351

NM_000059.4(BRCA2):c.4731A>G (p.Glu1577=)

SNV
Germline

Chr13:32339086

Conflicting classifications of pathogenicity

not specified
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA483438169

rs_2137509579

3 SubmittersRCV001819639 RCV003645240 RCV002334709

NM_000059.4(BRCA2):c.4997A>G (p.Asn1666Ser)

SNV
Germline

Chr13:32339352

Conflicting classifications of pathogenicity

not specified
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387783908

rs_1344419982

4 SubmittersRCV001825064 RCV002034677 RCV003158968

NM_000059.4(BRCA2):c.4093T>C (p.Cys1365Arg)

SNV
Germline

Chr13:32338448

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified

Criteria Provided
Conflicting Classifications

CA387779229

rs_2137502841

4 SubmittersRCV002543321 RCV003158969 RCV001844635

NM_007294.4(BRCA1):c.3077T>C (p.Ile1026Thr)

SNV
Germline

Chr17:43092454

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10595835

rs_2154343607

3 SubmittersRCV003157035 RCV002028655

NM_000059.4(BRCA2):c.2015G>T (p.Arg672Ile)

SNV
Germline

Chr13:32336370

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387768782

rs_2137482557

3 SubmittersRCV002028677 RCV002423237

NM_007294.4(BRCA1):c.1349A>C (p.Lys450Thr)

SNV
Germline

Chr17:43094182

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10599351

rs_778668550

2 SubmittersRCV002028689 RCV003157036

NM_000059.4(BRCA2):c.3964A>C (p.Asn1322His)

SNV
Germline

Chr13:32338319

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387778920

rs_879255449

2 SubmittersRCV001962136 RCV003159024

NM_000059.4(BRCA2):c.4397T>C (p.Leu1466Ser)

SNV
Germline

Chr13:32338752

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387781120

rs_886040526

2 SubmittersRCV001962137 RCV003159025

NM_000059.4(BRCA2):c.3898A>G (p.Met1300Val)

SNV
Germline

Chr13:32338253

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387778785

rs_2137501041

2 SubmittersRCV001944934 RCV003159026

NM_000059.4(BRCA2):c.4603G>T (p.Ala1535Ser)

SNV
Germline

Chr13:32338958

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387781980

rs_2072508845

6 SubmittersRCV003483846 RCV001962201 RCV006258673 RCV003159027

NM_007294.4(BRCA1):c.3289A>G (p.Ser1097Gly)

SNV
Germline

Chr17:43092242

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10595410

rs_587782864

3 SubmittersRCV001927359 RCV002324283

NM_000059.4(BRCA2):c.6824A>T (p.Glu2275Val)

SNV
Germline

Chr13:32341179

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387791453

rs_2137530962

2 SubmittersRCV001927429 RCV003156815

NM_000059.4(BRCA2):c.5037T>G (p.Thr1679=)

SNV
Germline

Chr13:32339392

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA483438401

rs_1593904213

3 SubmittersRCV001977938 RCV004946965 RCV004999583

NM_000059.4(BRCA2):c.1072G>T (p.Val358Leu)

SNV
Germline

Chr13:32332550

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387761399

rs_1555281727

2 SubmittersRCV002008137 RCV003156953

NM_000059.4(BRCA2):c.8146G>C (p.Val2716Leu)

SNV
Germline

Chr13:32363348

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387749501

rs_777094216

2 SubmittersRCV002014867 RCV003303546

NM_007294.4(BRCA1):c.3844G>A (p.Glu1282Lys)

SNV
Germline

Chr17:43091687

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10594279

rs_2154281717

3 SubmittersRCV001999663 RCV003157043

NM_000059.4(BRCA2):c.1682G>A (p.Gly561Glu)

SNV
Germline

Chr13:32333160

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387765146

rs_1593893593

3 SubmittersRCV002035920 RCV003157044

NM_000059.4(BRCA2):c.6391A>C (p.Lys2131Gln)

SNV
Germline

Chr13:32340746

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387789213

rs_2137527027

2 SubmittersRCV001867484 RCV003159033

NM_000059.4(BRCA2):c.6056A>G (p.Asn2019Ser)

SNV
Germline

Chr13:32340411

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387787904

rs_2137523727

3 SubmittersRCV001867633 RCV003159034

NM_007294.4(BRCA1):c.725G>C (p.Ser242Thr)

SNV
Germline

Chr17:43094806

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10600634

rs_2054059120

2 SubmittersRCV001897290 RCV003159062

NM_000059.4(BRCA2):c.2384C>T (p.Ser795Leu)

SNV
Germline

Chr13:32336739

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387771868

rs_2072456490

3 SubmittersRCV001897331 RCV002458716

NM_000059.4(BRCA2):c.4132A>T (p.Thr1378Ser)

SNV
Germline

Chr13:32338487

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387779379

rs_1204269313

3 SubmittersRCV001961204 RCV002331541

NM_000059.4(BRCA2):c.4798A>C (p.Asn1600His)

SNV
Germline

Chr13:32339153

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387783250

rs_774484160

2 SubmittersRCV001956744 RCV003156914

NM_007294.4(BRCA1):c.2797G>T (p.Gly933Cys)

SNV
Germline

Chr17:43092734

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10596401

rs_2154359101

2 SubmittersRCV001997875 RCV003156915

NM_007294.4(BRCA1):c.3990C>G (p.Ser1330Arg)

SNV
Germline

Chr17:43091541

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10593982

rs_876660808

3 SubmittersRCV001975362 RCV003156916

NM_007294.4(BRCA1):c.1385G>A (p.Gly462Glu)

SNV
Germline

Chr17:43094146

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10599274

rs_2053947222

5 SubmittersRCV001988751 RCV002258352

NM_000059.4(BRCA2):c.3781T>A (p.Ser1261Thr)

SNV
Germline

Chr13:32338136

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387778323

rs_2137499946

2 SubmittersRCV002024315 RCV003157071

NM_007294.4(BRCA1):c.1372G>A (p.Asp458Asn)

SNV
Germline

Chr17:43094159

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA10599302

rs_2154450550

5 SubmittersRCV001920444 RCV002386713 RCV003478897 RCV004587251

NM_007294.4(BRCA1):c.1791A>C (p.Glu597Asp)

SNV
Germline

Chr17:43093740

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10598439

rs_749415463

2 SubmittersRCV001942906 RCV003156847

NM_007294.4(BRCA1):c.2624C>T (p.Pro875Leu)

SNV
Germline

Chr17:43092907

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10596744

rs_867654871

3 SubmittersRCV002028044 RCV003157079

NM_000059.4(BRCA2):c.5941G>C (p.Ala1981Pro)

SNV
Germline

Chr13:32340296

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387787569

rs_2137522505

2 SubmittersRCV001880621 RCV003159004

NM_007294.4(BRCA1):c.1348A>G (p.Lys450Glu)

SNV
Germline

Chr17:43094183

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10599353

rs_2053952990

2 SubmittersRCV001893967 RCV003159005

NM_000059.4(BRCA2):c.5777G>T (p.Ser1926Ile)

SNV
Germline

Chr13:32340132

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387787129

rs_869320795

2 SubmittersRCV001924889 RCV003156792

NM_000059.4(BRCA2):c.4694A>C (p.Lys1565Thr)

SNV
Germline

Chr13:32339049

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387782872

rs_2137509148

2 SubmittersRCV001978678 RCV003156880

NM_000059.4(BRCA2):c.2042T>C (p.Val681Ala)

SNV
Germline

Chr13:32336397

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA247500491

rs_1039304689

6 SubmittersRCV001959588 RCV002423164 RCV002466724 RCV002266074

NM_000059.4(BRCA2):c.6938-1G>T

SNV
Germline

Chr13:32346826

Pathogenic

Hereditary breast ovarian cancer syndrome

Criteria Provided
Single Submitter

CA387792965

rs_886040936

1 SubmittersRCV001966213

NM_000059.4(BRCA2):c.3276T>A (p.Phe1092Leu)

SNV
Germline

Chr13:32337631

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA387776073

rs_2137495021

3 SubmittersRCV001970316 RCV003156924 RCV006258727

NM_000059.4(BRCA2):c.2191G>C (p.Glu731Gln)

SNV
Germline

Chr13:32336546

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387770434

rs_2137484084

2 SubmittersRCV002031234 RCV003157078

NM_000059.4(BRCA2):c.1898A>T (p.Asn633Ile)

SNV
Germline

Chr13:32333376

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387766831

rs_2137476132

2 SubmittersRCV001966065 RCV003156922

NM_007294.4(BRCA1):c.1850C>T (p.Thr617Ile)

SNV
Germline

Chr17:43093681

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10598318

rs_2154417111

3 SubmittersRCV001959504 RCV003156923

NM_000059.4(BRCA2):c.7982A>T (p.Asp2661Val)

SNV
Germline

Chr13:32363184

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Inherited prostate cancer

Criteria Provided
Conflicting Classifications

CA387748522

rs_2137579611

2 SubmittersRCV001979687 RCV006442479

NM_000059.4(BRCA2):c.1026A>C (p.Glu342Asp)

SNV
Germline

Chr13:32332504

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387761145

rs_777755589

2 SubmittersRCV001880552 RCV003159001

NM_000059.4(BRCA2):c.4847T>C (p.Leu1616Ser)

SNV
Germline

Chr13:32339202

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387783374

rs_398122786

2 SubmittersRCV001878170 RCV003159002

NM_000059.4(BRCA2):c.6186T>A (p.Ser2062Arg)

SNV
Germline

Chr13:32340541

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387788412

rs_1315692124

3 SubmittersRCV001880563 RCV003227042 RCV003159003

NM_000059.4(BRCA2):c.1546T>A (p.Phe516Ile)

SNV
Germline

Chr13:32333024

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387764645

rs_2137472549

2 SubmittersRCV001989324 RCV003156997

NM_000059.4(BRCA2):c.6239T>C (p.Leu2080Ser)

SNV
Germline

Chr13:32340594

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA387788904

rs_80358864

4 SubmittersRCV002048855 RCV002361413 RCV004011176

NM_007294.4(BRCA1):c.2024C>T (p.Ala675Val)

SNV
Germline

Chr17:43093507

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10597960

rs_2154403344

2 SubmittersRCV001887312 RCV003156821

NM_000059.4(BRCA2):c.2788T>C (p.Tyr930His)

SNV
Germline

Chr13:32337143

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387773720

rs_1168540941

2 SubmittersRCV001919892 RCV003156822

NM_000059.4(BRCA2):c.4946A>G (p.Lys1649Arg)

SNV
Germline

Chr13:32339301

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387783734

rs_2137511956

2 SubmittersRCV001990208 RCV003156901

NM_000059.4(BRCA2):c.2701C>G (p.Leu901Val)

SNV
Germline

Chr13:32337056

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387773499

rs_2072463186

3 SubmittersRCV001993023 RCV003156902

NM_007294.4(BRCA1):c.2923C>A (p.Gln975Lys)

SNV
Germline

Chr17:43092608

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10596151

rs_80357497

3 SubmittersRCV001974165 RCV003156961

NM_000059.4(BRCA2):c.4679G>C (p.Ser1560Thr)

SNV
Germline

Chr13:32339034

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387782812

rs_2137508985

3 SubmittersRCV002048154 RCV002337139

NM_000059.4(BRCA2):c.6268C>G (p.His2090Asp)

SNV
Germline

Chr13:32340623

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387788966

rs_1405631299

3 SubmittersRCV002009611 RCV003157048

NM_000059.4(BRCA2):c.6779A>G (p.Glu2260Gly)

SNV
Germline

Chr13:32341134

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387791259

rs_2137530621

3 SubmittersRCV001891783 RCV003156825

NM_000059.4(BRCA2):c.2062T>G (p.Tyr688Asp)

SNV
Germline

Chr13:32336417

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387769024

rs_2137482959

2 SubmittersRCV001867192 RCV003158999

NM_000059.4(BRCA2):c.3991T>A (p.Ser1331Thr)

SNV
Germline

Chr13:32338346

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387778974

rs_2137501854

2 SubmittersRCV001924598 RCV003159069

NM_000059.4(BRCA2):c.6580A>T (p.Ile2194Phe)

SNV
Germline

Chr13:32340935

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387789966

rs_1566234950

2 SubmittersRCV001892684 RCV003156788

NM_007294.4(BRCA1):c.4987-1352A>G

SNV
Germline

Chr17:43069047

Pathogenic

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA2573154002

rs_2153749819

2 SubmittersRCV001892755 RCV003303290

NM_000059.4(BRCA2):c.5470A>C (p.Asn1824His)

SNV
Germline

Chr13:32339825

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA387785674

rs_2137517808

5 SubmittersRCV001948936 RCV002344089 RCV004010949

NM_000059.4(BRCA2):c.3733G>A (p.Glu1245Lys)

SNV
Germline

Chr13:32338088

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA387778112

rs_2137499510

3 SubmittersRCV001984314 RCV003156993 RCV006434498

NM_000059.4(BRCA2):c.1853C>T (p.Ala618Val)

SNV
Germline

Chr13:32333331

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387766402

rs_2137475672

3 SubmittersRCV001984376 RCV003156994

NM_000059.4(BRCA2):c.6387A>T (p.Glu2129Asp)

SNV
Germline

Chr13:32340742

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387789204

rs_2137526976

2 SubmittersRCV001986618 RCV003156995

NM_000059.4(BRCA2):c.3185C>T (p.Pro1062Leu)

SNV
Germline

Chr13:32337540

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6940675

rs_564316199

5 SubmittersRCV002030892 RCV003157076 RCV004011166 RCV006558314

NM_000059.4(BRCA2):c.934T>G (p.Phe312Val)

SNV
Germline

Chr13:32332412

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387760783

rs_2137466032

2 SubmittersRCV003157077 RCV002030938

NM_000059.4(BRCA2):c.8488-1G>C

SNV
Germline

Chr13:32370955

Pathogenic

Hereditary breast ovarian cancer syndrome

Criteria Provided
Single Submitter

CA387752654

rs_397507404

1 SubmittersRCV002027715

NM_000059.4(BRCA2):c.2533C>T (p.Pro845Ser)

SNV
Germline

Chr13:32336888

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387772491

rs_2137487455

3 SubmittersRCV002454314 RCV002030970

NM_007294.4(BRCA1):c.2842G>A (p.Gly948Arg)

SNV
Germline

Chr17:43092689

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10596305

rs_2154356683

2 SubmittersRCV001923376 RCV003156849

NM_007294.4(BRCA1):c.790A>G (p.Ser264Gly)

SNV
Germline

Chr17:43094741

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10600500

rs_397509321

3 SubmittersRCV001872181 RCV003159006

NM_007294.4(BRCA1):c.2824G>C (p.Ala942Pro)

SNV
Germline

Chr17:43092707

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10596343

rs_2154357673

2 SubmittersRCV001881626 RCV003156795

NM_000059.4(BRCA2):c.5024G>T (p.Cys1675Phe)

SNV
Germline

Chr13:32339379

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387783970

rs_2137512936

2 SubmittersRCV001905864 RCV003156796

NM_000059.4(BRCA2):c.2534C>T (p.Pro845Leu)

SNV
Germline

Chr13:32336889

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387772492

rs_1288748311

2 SubmittersRCV001945165 RCV003156850

NM_000059.4(BRCA2):c.4753A>T (p.Ile1585Phe)

SNV
Germline

Chr13:32339108

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387783096

rs_2137509864

2 SubmittersRCV001945252 RCV003156851

NM_000059.4(BRCA2):c.1031C>T (p.Ser344Phe)

SNV
Germline

Chr13:32332509

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA387761171

rs_1593891776

3 SubmittersRCV001969080 RCV003156927 RCV004011011

NM_000059.4(BRCA2):c.1597A>C (p.Thr533Pro)

SNV
Germline

Chr13:32333075

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA387764819

rs_1555281980

4 SubmittersRCV003156928 RCV001970707 RCV006442481

NM_000059.4(BRCA2):c.2041G>A (p.Val681Ile)

SNV
Germline

Chr13:32336396

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387768927

rs_2072449369

3 SubmittersRCV001993721 RCV003156929

NM_007294.4(BRCA1):c.3444G>T (p.Glu1148Asp)

SNV
Germline

Chr17:43092087

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10595095

rs_2154315177

2 SubmittersRCV003156930 RCV001970753

NM_000059.4(BRCA2):c.2621C>G (p.Thr874Ser)

SNV
Germline

Chr13:32336976

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387773199

rs_2137488252

2 SubmittersRCV001991775 RCV003157006

NM_000465.4(BARD1):c.2002-2A>G

SNV
Germline

Chr2:214729010

Conflicting classifications of pathogenicity

Familial cancer of breast
Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA350450834

rs_876658260

6 SubmittersRCV002028506 RCV003434380 RCV005095512 RCV005764550

NM_007294.4(BRCA1):c.3374C>G (p.Ser1125Cys)

SNV
Germline

Chr17:43092157

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10595228

rs_1555587835

2 SubmittersRCV001872577 RCV003159010

NM_000059.4(BRCA2):c.5905G>C (p.Val1969Leu)

SNV
Germline

Chr13:32340260

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387787502

rs_1566233487

2 SubmittersRCV001907263 RCV003159011

NM_000059.4(BRCA2):c.9670A>C (p.Ile3224Leu)

SNV
Germline

Chr13:32398183

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387765181

rs_374321381

2 SubmittersRCV001894282 RCV004039664

NM_007294.4(BRCA1):c.3509T>C (p.Ile1170Thr)

SNV
Germline

Chr17:43092022

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10594953

rs_780869838

2 SubmittersRCV001968810 RCV003156926

NM_000059.4(BRCA2):c.6266A>C (p.Glu2089Ala)

SNV
Germline

Chr13:32340621

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387788960

rs_2137525811

2 SubmittersRCV003157002 RCV002015365

NM_000059.4(BRCA2):c.3010A>C (p.Ser1004Arg)

SNV
Germline

Chr13:32337365

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387774738

rs_398122759

2 SubmittersRCV003157003 RCV001991567

NM_000059.4(BRCA2):c.3335C>T (p.Thr1112Ile)

SNV
Germline

Chr13:32337690

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387776291

rs_2137495566

3 SubmittersRCV003157004 RCV001991570

NM_007294.4(BRCA1):c.1753G>C (p.Glu585Gln)

SNV
Germline

Chr17:43093778

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10598524

rs_2154426325

2 SubmittersRCV002015379 RCV003157005

NM_000059.4(BRCA2):c.8575C>A (p.Gln2859Lys)

SNV
Germline

Chr13:32371043

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA387752824

rs_80359115

3 SubmittersRCV002015381 RCV002443021 RCV004719220

NM_007294.4(BRCA1):c.3031G>T (p.Glu1011Ter)

SNV
Germline

Chr17:43092500

Pathogenic

Hereditary breast ovarian cancer syndrome

Criteria Provided
Single Submitter

CA10595931

rs_876659974

1 SubmittersRCV001994555

NM_007294.4(BRCA1):c.3274G>T (p.Glu1092Ter)

SNV
Germline

Chr17:43092257

Pathogenic

Hereditary breast ovarian cancer syndrome

Criteria Provided
Single Submitter

CA10595440

rs_876658360

1 SubmittersRCV001999878

NM_000059.4(BRCA2):c.2202G>T (p.Leu734Phe)

SNV
Germline

Chr13:32336557

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387770514

rs_2137484178

2 SubmittersRCV002009893 RCV003156966

NM_000059.4(BRCA2):c.843C>A (p.Asp281Glu)

SNV
Germline

Chr13:32332321

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387760506

rs_2137465225

2 SubmittersRCV001991189 RCV003156967

NM_007294.4(BRCA1):c.3880A>G (p.Ser1294Gly)

SNV
Germline

Chr17:43091651

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10594206

rs_2154279207

2 SubmittersRCV001899659 RCV003159040

NM_000059.4(BRCA2):c.1878A>C (p.Glu626Asp)

SNV
Germline

Chr13:32333356

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387766636

rs_2137475937

2 SubmittersRCV001864669 RCV003159041

NM_000059.4(BRCA2):c.1707G>T (p.Gln569His)

SNV
Germline

Chr13:32333185

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387765278

rs_1555282027

3 SubmittersRCV001917771 RCV002397869

NM_007294.4(BRCA1):c.2767G>A (p.Val923Ile)

SNV
Germline

Chr17:43092764

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10596460

rs_1324340897

2 SubmittersRCV001929525 RCV003156863

NM_000059.4(BRCA2):c.5233A>T (p.Met1745Leu)

SNV
Germline

Chr13:32339588

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387784664

rs_786202206

2 SubmittersRCV001929540 RCV003156864

NM_007294.4(BRCA1):c.1024C>A (p.Leu342Met)

SNV
Germline

Chr17:43094507

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10600011

rs_2154479720

2 SubmittersRCV001929611 RCV003156865

NM_000059.4(BRCA2):c.8417C>A (p.Ser2806Ter)

SNV
Germline

Chr13:32370487

Pathogenic

Hereditary breast ovarian cancer syndrome

Criteria Provided
Single Submitter

CA387752521

rs_587782785

1 SubmittersRCV001960599

NM_000059.4(BRCA2):c.7729A>T (p.Lys2577Ter)

SNV
Germline

Chr13:32357853

Pathogenic

Hereditary breast ovarian cancer syndrome

Criteria Provided
Single Submitter

CA387745513

rs_2137567147

1 SubmittersRCV001939430

NM_000059.4(BRCA2):c.3692C>T (p.Thr1231Ile)

SNV
Germline

Chr13:32338047

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387778033

rs_2137499081

2 SubmittersRCV001988398 RCV003156972

NM_000059.4(BRCA2):c.4223A>G (p.Gln1408Arg)

SNV
Germline

Chr13:32338578

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6940760

rs_762778002

5 SubmittersRCV001871298 RCV003156793 RCV005232700

NM_000059.4(BRCA2):c.6197T>C (p.Val2066Ala)

SNV
Germline

Chr13:32340552

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387788829

rs_2137525153

2 SubmittersRCV001989695 RCV003156998

NM_007294.4(BRCA1):c.3183A>G (p.Ile1061Met)

SNV
Germline

Chr17:43092348

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10595620

rs_2154338105

2 SubmittersRCV001999074 RCV003156999

NM_000059.4(BRCA2):c.1961A>G (p.Glu654Gly)

SNV
Germline

Chr13:32336316

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387768488

rs_2072447912

2 SubmittersRCV002046528 RCV003157080

NM_000059.4(BRCA2):c.2753A>G (p.Asn918Ser)

SNV
Germline

Chr13:32337108

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387773645

rs_2137489532

2 SubmittersRCV003156931 RCV001961313

NM_000059.4(BRCA2):c.6686A>C (p.Glu2229Ala)

SNV
Germline

Chr13:32341041

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387790579

rs_2072562512

2 SubmittersRCV001872295 RCV003159007

NM_000059.4(BRCA2):c.899T>C (p.Val300Ala)

SNV
Germline

Chr13:32332377

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387760676

rs_1555281625

3 SubmittersRCV001947750 RCV003156853

NM_007294.4(BRCA1):c.833C>T (p.Thr278Ile)

SNV
Germline

Chr17:43094698

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10600416

rs_2154490731

2 SubmittersRCV001960380 RCV003156883

NM_007294.4(BRCA1):c.1585C>T (p.Pro529Ser)

SNV
Germline

Chr17:43093946

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA057397

rs_769380445

3 SubmittersRCV001987425 RCV003156884

NM_000059.4(BRCA2):c.2257T>G (p.Phe753Val)

SNV
Germline

Chr13:32336612

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387770978

rs_878853562

3 SubmittersRCV001953379 RCV003156885

NM_000059.4(BRCA2):c.5056T>G (p.Leu1686Val)

SNV
Germline

Chr13:32339411

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387784030

rs_2137513514

2 SubmittersRCV001960449 RCV003156886

NM_000059.4(BRCA2):c.1060T>C (p.Phe354Leu)

SNV
Germline

Chr13:32332538

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA387761340

rs_1318579197

4 SubmittersRCV001973273 RCV003156934 RCV004011016

NM_007294.4(BRCA1):c.2036A>G (p.Lys679Arg)

SNV
Germline

Chr17:43093495

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10597938

rs_2053838870

2 SubmittersRCV001973278 RCV003156935

NM_000059.4(BRCA2):c.1938C>G (p.Ser646Arg)

SNV
Germline

Chr13:32336293

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387768347

rs_28897711

4 SubmittersRCV001996427 RCV003157016

NM_007294.4(BRCA1):c.1520G>A (p.Arg507Lys)

SNV
Germline

Chr17:43094011

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10599007

rs_80357224

3 SubmittersRCV001996509 RCV003157017

NM_000059.4(BRCA2):c.4013G>A (p.Gly1338Asp)

SNV
Germline

Chr13:32338368

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387779023

rs_2137502060

2 SubmittersRCV001900180 RCV003159016

NM_000059.4(BRCA2):c.6341C>T (p.Pro2114Leu)

SNV
Germline

Chr13:32340696

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387789106

rs_1593908321

3 SubmittersRCV001932324 RCV002361112

NM_007294.4(BRCA1):c.1557G>C (p.Lys519Asn)

SNV
Germline

Chr17:43093974

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10598932

rs_2154437017

3 SubmittersRCV001898124 RCV003156801

NM_000059.4(BRCA2):c.1157A>T (p.Glu386Val)

SNV
Germline

Chr13:32332635

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387761902

rs_2137468194

2 SubmittersRCV001875646 RCV003156800

NM_000059.4(BRCA2):c.4298G>T (p.Gly1433Val)

SNV
Germline

Chr13:32338653

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387780703

rs_758795405

2 SubmittersRCV001933183 RCV003156852

NM_000059.4(BRCA2):c.6680C>T (p.Ala2227Val)

SNV
Germline

Chr13:32341035

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387790565

rs_2137529724

4 SubmittersRCV001964033 RCV003154052 RCV003156933

NM_000059.4(BRCA2):c.6097A>C (p.Ile2033Leu)

SNV
Germline

Chr13:32340452

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387788079

rs_772846629

2 SubmittersRCV003157013 RCV002019855

NM_000059.4(BRCA2):c.5135G>C (p.Gly1712Ala)

SNV
Germline

Chr13:32339490

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387784185

rs_1453037467

2 SubmittersRCV003157014 RCV001996274

NM_007294.4(BRCA1):c.968G>C (p.Gly323Ala)

SNV
Germline

Chr17:43094563

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10600127

rs_2054014720

2 SubmittersRCV001996281 RCV003157015

NM_000059.4(BRCA2):c.3597C>G (p.Asp1199Glu)

SNV
Germline

Chr13:32337952

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387777476

rs_192892005

2 SubmittersRCV001932070 RCV003159015

NM_000059.4(BRCA2):c.9044A>T (p.Lys3015Ile)

SNV
Germline

Chr13:32379840

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387757527

rs_2137623016

2 SubmittersRCV001897925 RCV002370453

NM_000059.4(BRCA2):c.6480A>G (p.Gln2160=)

SNV
Germline

Chr13:32340835

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified

Criteria Provided
Conflicting Classifications

CA483439050

rs_2137527978

3 SubmittersRCV001898098 RCV002359363 RCV004699531

NM_000059.4(BRCA2):c.2099T>G (p.Leu700Ter)

SNV
Germline

Chr13:32336454

Pathogenic

Hereditary breast ovarian cancer syndrome

Criteria Provided
Single Submitter

CA387769900

rs_1555282449

1 SubmittersRCV001938282

NM_000059.4(BRCA2):c.5375C>T (p.Ser1792Phe)

SNV
Germline

Chr13:32339730

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387785171

rs_1555284200

2 SubmittersRCV002014259 RCV003157055

NM_007294.4(BRCA1):c.781T>A (p.Tyr261Asn)

SNV
Germline

Chr17:43094750

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10600518

rs_2054049254

2 SubmittersRCV002014424 RCV003157056

NM_000059.4(BRCA2):c.5625G>C (p.Lys1875Asn)

SNV
Germline

Chr13:32339980

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387786113

rs_1316343192

2 SubmittersRCV002043287 RCV003157057

NM_000059.4(BRCA2):c.3888T>G (p.Asn1296Lys)

SNV
Germline

Chr13:32338243

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387778761

rs_2137500977

2 SubmittersRCV002049995 RCV003158974

NM_007294.4(BRCA1):c.1662G>T (p.Glu554Asp)

SNV
Germline

Chr17:43093869

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10598711

rs_876659028

2 SubmittersRCV003158975 RCV002050007

NM_007294.4(BRCA1):c.3541G>C (p.Val1181Leu)

SNV
Germline

Chr17:43091990

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10594884

rs_56336919

2 SubmittersRCV002029826 RCV003158976

NM_000059.4(BRCA2):c.5954C>A (p.Ser1985Tyr)

SNV
Germline

Chr13:32340309

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387787596

rs_1272409475

3 SubmittersRCV002050073 RCV002359282

NM_000059.4(BRCA2):c.3476G>A (p.Cys1159Tyr)

SNV
Germline

Chr13:32337831

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387776828

rs_2137496967

2 SubmittersRCV001882941 RCV003159043

NM_000059.4(BRCA2):c.5302C>T (p.Leu1768Phe)

SNV
Germline

Chr13:32339657

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA387784832

rs_2137516131

6 SubmittersRCV001936292 RCV002344067 RCV005232723

NM_000059.4(BRCA2):c.6829C>A (p.Leu2277Ile)

SNV
Germline

Chr13:32341184

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387791473

rs_786202214

3 SubmittersRCV003156976 RCV002003209

NM_000059.4(BRCA2):c.6098T>C (p.Ile2033Thr)

SNV
Germline

Chr13:32340453

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387788084

rs_398122548

4 SubmittersRCV001950728 RCV002352624

NM_000059.4(BRCA2):c.3397C>A (p.Pro1133Thr)

SNV
Germline

Chr13:32337752

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387776464

rs_786202430

2 SubmittersRCV001968035 RCV003156881

NM_000059.4(BRCA2):c.1567C>A (p.His523Asn)

SNV
Germline

Chr13:32333045

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387764719

rs_2072416501

3 SubmittersRCV002398074 RCV002028579

NM_000059.4(BRCA2):c.3764T>C (p.Val1255Ala)

SNV
Germline

Chr13:32338119

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387778230

rs_1593900450

2 SubmittersRCV001992068 RCV003157007

NM_007294.4(BRCA1):c.808C>G (p.His270Asp)

SNV
Germline

Chr17:43094723

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10600465

rs_2054044790

3 SubmittersRCV001992209 RCV003157008

NM_000059.4(BRCA2):c.6660A>C (p.Glu2220Asp)

SNV
Germline

Chr13:32341015

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387790445

rs_2137529521

3 SubmittersRCV001982484 RCV003156889

NM_000059.4(BRCA2):c.1205G>T (p.Gly402Val)

SNV
Germline

Chr13:32332683

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387762076

rs_1566223012

2 SubmittersRCV001982500 RCV003156890

NM_000059.4(BRCA2):c.3592A>G (p.Asn1198Asp)

SNV
Germline

Chr13:32337947

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387777443

rs_2137498140

2 SubmittersRCV002002835 RCV003156940

NM_000059.4(BRCA2):c.5530T>C (p.Phe1844Leu)

SNV
Germline

Chr13:32339885

Conflicting classifications of pathogenicity

not specified
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387785913

rs_2072531391

4 SubmittersRCV006453838 RCV002002838 RCV002344145

NM_000059.4(BRCA2):c.9352A>G (p.Met3118Val)

SNV
Germline

Chr13:32394784

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387761106

rs_1566258951

3 SubmittersRCV001969227 RCV002442967

NM_000059.4(BRCA2):c.2962G>C (p.Asp988His)

SNV
Germline

Chr13:32337317

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387774464

rs_1593898237

2 SubmittersRCV002012991 RCV003157020

NM_000059.4(BRCA2):c.6775A>G (p.Asn2259Asp)

SNV
Germline

Chr13:32341130

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387791238

rs_2137530592

2 SubmittersRCV002013267 RCV003157021

NM_000059.4(BRCA2):c.1234C>G (p.Pro412Ala)

SNV
Germline

Chr13:32332712

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387762202

rs_1555281787

2 SubmittersRCV001937388 RCV003159019

NM_007294.4(BRCA1):c.2170C>T (p.Pro724Ser)

SNV
Germline

Chr17:43093361

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10597662

rs_2154395681

3 SubmittersRCV001937421 RCV003159020

NM_000059.4(BRCA2):c.1633G>C (p.Val545Leu)

SNV
Germline

Chr13:32333111

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387764936

rs_2137473390

3 SubmittersRCV001882052 RCV003156806

NM_000059.4(BRCA2):c.2566A>C (p.Asn856His)

SNV
Germline

Chr13:32336921

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387772557

rs_2137487755

2 SubmittersRCV001931174 RCV003156855

NM_007294.4(BRCA1):c.3488C>G (p.Thr1163Ser)

SNV
Germline

Chr17:43092043

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10594999

rs_80356918

2 SubmittersRCV001910435 RCV003156856

NM_007294.4(BRCA1):c.2468G>A (p.Arg823Lys)

SNV
Germline

Chr17:43093063

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10597069

rs_876659731

2 SubmittersRCV001992809 RCV003156892

NM_000059.4(BRCA2):c.2217C>G (p.His739Gln)

SNV
Germline

Chr13:32336572

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387770650

rs_1131692117

2 SubmittersRCV001987656 RCV003156893

NM_007294.4(BRCA1):c.1242C>A (p.Asp414Glu)

SNV
Germline

Chr17:43094289

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10599568

rs_372400428

2 SubmittersRCV001970868 RCV003156947

NM_000059.4(BRCA2):c.4424T>G (p.Met1475Arg)

SNV
Germline

Chr13:32338779

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387781262

rs_2072503948

3 SubmittersRCV001970885 RCV002331552

NM_007294.4(BRCA1):c.1757C>T (p.Pro586Leu)

SNV
Germline

Chr17:43093774

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
not specified
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10598513

rs_1064795270

4 SubmittersRCV001955872 RCV002282663 RCV002397990

NM_007294.4(BRCA1):c.3423T>A (p.His1141Gln)

SNV
Germline

Chr17:43092108

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10595133

rs_863224419

2 SubmittersRCV001982395 RCV003156888

NM_007294.4(BRCA1):c.1349A>G (p.Lys450Arg)

SNV
Germline

Chr17:43094182

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA057171

rs_778668550

5 SubmittersRCV002002719 RCV003156938 RCV003481230 RCV003493900

NM_000059.4(BRCA2):c.5476G>A (p.Ala1826Thr)

SNV
Germline

Chr13:32339831

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387785697

rs_2072530360

2 SubmittersRCV001967012 RCV003156939

NM_007294.4(BRCA1):c.3687G>T (p.Leu1229Phe)

SNV
Germline

Chr17:43091844

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10594589

rs_2154294699

2 SubmittersRCV002010638 RCV003157019

NM_000059.4(BRCA2):c.2755G>T (p.Glu919Ter)

SNV
Germline

Chr13:32337110

Pathogenic

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA387773649

rs_431825298

3 SubmittersRCV001931060 RCV003585155

NM_000059.4(BRCA2):c.848T>G (p.Ile283Ser)

SNV
Germline

Chr13:32332326

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA6940471

rs_730881507

3 SubmittersRCV001954508 RCV002449594

NM_000059.4(BRCA2):c.6596C>G (p.Thr2199Ser)

SNV
Germline

Chr13:32340951

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387790059

rs_2137528906

2 SubmittersRCV001977502 RCV003156946

NM_000059.4(BRCA2):c.4711G>A (p.Glu1571Lys)

SNV
Germline

Chr13:32339066

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387782935

rs_2137509353

3 SubmittersRCV002005312 RCV002334996

NM_007294.4(BRCA1):c.679G>A (p.Glu227Lys)

SNV
Germline

Chr17:43094852

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10600733

rs_879255319

3 SubmittersRCV001879666 RCV003159046

NM_000059.4(BRCA2):c.6127A>G (p.Lys2043Glu)

SNV
Germline

Chr13:32340482

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387788187

rs_2137524563

3 SubmittersRCV001883393 RCV003159047

NM_000059.4(BRCA2):c.4974G>C (p.Gln1658His)

SNV
Germline

Chr13:32339329

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387783840

rs_1555284012

2 SubmittersRCV001925250 RCV003156830

NM_000059.4(BRCA2):c.1432A>T (p.Thr478Ser)

SNV
Germline

Chr13:32332910

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387764272

rs_2137471409

3 SubmittersRCV001925257 RCV003156831

NM_000059.4(BRCA2):c.1910-2A>G

SNV
Germline

Chr13:32336263

Pathogenic

Hereditary breast ovarian cancer syndrome

Criteria Provided
Single Submitter

CA387768192

rs_1228762581

1 SubmittersRCV001953705

NM_007294.4(BRCA1):c.3192T>G (p.Ser1064Arg)

SNV
Germline

Chr17:43092339

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10595602

rs_2154337710

2 SubmittersRCV002008365 RCV003156980

NM_000059.4(BRCA2):c.5093T>C (p.Phe1698Ser)

SNV
Germline

Chr13:32339448

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA387784106

rs_1224120349

4 SubmittersRCV002008386 RCV002335016 RCV004011062

NM_000059.4(BRCA2):c.6652G>A (p.Asp2218Asn)

SNV
Germline

Chr13:32341007

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA387790405

rs_730881547

4 SubmittersRCV002047007 RCV003158984 RCV003483842 RCV004804256

NM_007294.4(BRCA1):c.1726A>G (p.Lys576Glu)

SNV
Germline

Chr17:43093805

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10598579

rs_2154427861

2 SubmittersRCV002047045 RCV003158985

NM_000059.4(BRCA2):c.6484A>G (p.Lys2162Glu)

SNV
Germline

Chr13:32340839

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387789457

rs_1555284717

2 SubmittersRCV003156936 RCV001964304

NM_000059.4(BRCA2):c.1892T>C (p.Phe631Ser)

SNV
Germline

Chr13:32333370

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387766752

rs_2137476085

2 SubmittersRCV001901958 RCV003159017

NM_000059.4(BRCA2):c.2462T>G (p.Val821Gly)

SNV
Germline

Chr13:32336817

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387772333

rs_587779361

2 SubmittersRCV001917583 RCV003156802

NM_000059.4(BRCA2):c.3098A>G (p.Asp1033Gly)

SNV
Germline

Chr13:32337453

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA387775316

rs_141702094

4 SubmittersRCV001890966 RCV003156803 RCV004010779

NM_007294.4(BRCA1):c.3556C>A (p.Leu1186Ile)

SNV
Germline

Chr17:43091975

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10594854

rs_1555587505

2 SubmittersRCV001891104 RCV003156804

NM_007294.4(BRCA1):c.3656A>G (p.Glu1219Gly)

SNV
Germline

Chr17:43091875

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10594658

rs_2154296539

3 SubmittersRCV003156941 RCV002004986

NM_000059.4(BRCA2):c.4538A>G (p.Asp1513Gly)

SNV
Germline

Chr13:32338893

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387781732

rs_1566230577

3 SubmittersRCV003156942 RCV001976028

NM_000059.4(BRCA2):c.2588A>G (p.Asn863Ser)

SNV
Germline

Chr13:32336943

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA6940615

rs_760880622

3 SubmittersRCV003157022 RCV002013343

NM_007294.4(BRCA1):c.2117C>G (p.Pro706Arg)

SNV
Germline

Chr17:43093414

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10597766

rs_759655692

2 SubmittersRCV002019867 RCV003157023

NM_000059.4(BRCA2):c.6791T>C (p.Leu2264Ser)

SNV
Germline

Chr13:32341146

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387791313

rs_1364062389

2 SubmittersRCV002019869 RCV003157024

NM_007294.4(BRCA1):c.3500A>C (p.Glu1167Ala)

SNV
Germline

Chr17:43092031

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10594975

rs_2154308012

3 SubmittersRCV002010807 RCV003157025

NM_000059.4(BRCA2):c.2496G>T (p.Glu832Asp)

SNV
Germline

Chr13:32336851

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387772416

rs_786201479

2 SubmittersRCV001927214 RCV003156814

NM_000059.4(BRCA2):c.5156A>G (p.Asn1719Ser)

SNV
Germline

Chr13:32339511

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387784234

rs_1179768667

3 SubmittersRCV001997041 RCV002334960

NM_000059.4(BRCA2):c.5059C>T (p.Leu1687Phe)

SNV
Germline

Chr13:32339414

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA387784037

rs_1408726129

3 SubmittersRCV001997076 RCV003156897 RCV004010976

NM_000059.4(BRCA2):c.4086C>G (p.His1362Gln)

SNV
Germline

Chr13:32338441

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387779202

rs_760304057

2 SubmittersRCV001976325 RCV003156951

NM_000059.4(BRCA2):c.6142A>C (p.Asn2048His)

SNV
Germline

Chr13:32340497

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387788249

rs_1367585890

2 SubmittersRCV002011176 RCV003157029

NM_000059.4(BRCA2):c.2794G>T (p.Asp932Tyr)

SNV
Germline

Chr13:32337149

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387773733

rs_2137489980

2 SubmittersRCV002011210 RCV003157030

NM_000059.4(BRCA2):c.3455T>C (p.Leu1152Ser)

SNV
Germline

Chr13:32337810

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387776701

rs_80358593

2 SubmittersRCV002011219 RCV003157031

NM_007294.4(BRCA1):c.2744C>G (p.Ser915Cys)

SNV
Germline

Chr17:43092787

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10596500

rs_1222778457

2 SubmittersRCV002011224 RCV003157032

NM_000059.4(BRCA2):c.4654G>C (p.Gly1552Arg)

SNV
Germline

Chr13:32339009

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387782212

rs_1566230890

3 SubmittersRCV002022810 RCV002337130

NM_007294.4(BRCA1):c.1510C>G (p.Arg504Gly)

SNV
Germline

Chr17:43094021

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10599023

rs_80357445

2 SubmittersRCV001932551 RCV003159030

NM_000059.4(BRCA2):c.3229G>C (p.Val1077Leu)

SNV
Germline

Chr13:32337584

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387775919

rs_2137494548

2 SubmittersRCV001947515 RCV003159031

NM_000059.4(BRCA2):c.1306A>C (p.Lys436Gln)

SNV
Germline

Chr13:32332784

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387762579

rs_2137469924

3 SubmittersRCV001942686 RCV002386625

NM_000059.4(BRCA2):c.6742C>G (p.His2248Asp)

SNV
Germline

Chr13:32341097

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387791109

rs_1350512388

3 SubmittersRCV001912438 RCV003156813

NM_000059.4(BRCA2):c.4804A>T (p.Lys1602Ter)

SNV
Germline

Chr13:32339159

Pathogenic/Likely pathogenic

Hereditary breast ovarian cancer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA387783265

rs_1566231167

2 SubmittersRCV001896552

NM_007294.4(BRCA1):c.3698A>C (p.Lys1233Thr)

SNV
Germline

Chr17:43091833

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10594568

rs_80357141

3 SubmittersRCV002012016 RCV002344105

NM_000059.4(BRCA2):c.4676T>A (p.Phe1559Tyr)

SNV
Germline

Chr13:32339031

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387782799

rs_1060502411

2 SubmittersRCV002007838 RCV003156949

NM_000059.4(BRCA2):c.5444C>A (p.Thr1815Asn)

SNV
Germline

Chr13:32339799

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387785552

rs_587782031

2 SubmittersRCV001976181 RCV003156950

NM_000059.4(BRCA2):c.3785C>T (p.Ser1262Leu)

SNV
Germline

Chr13:32338140

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387778346

rs_80358620

3 SubmittersRCV002022530 RCV002346275

NM_007294.4(BRCA1):c.1625A>G (p.Asn542Ser)

SNV
Germline

Chr17:43093906

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10598790

rs_2154433378

4 SubmittersRCV001947125 RCV003159028 RCV006258674

NM_007294.4(BRCA1):c.2948T>G (p.Leu983Arg)

SNV
Germline

Chr17:43092583

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10596101

rs_2154350949

2 SubmittersRCV001962261 RCV003159029

NM_000059.4(BRCA2):c.6154T>A (p.Ser2052Thr)

SNV
Germline

Chr13:32340509

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387788298

rs_1566234040

2 SubmittersRCV001901734 RCV003156834

NM_007294.4(BRCA1):c.3970A>G (p.Met1324Val)

SNV
Germline

Chr17:43091561

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10594029

rs_587782241

3 SubmittersRCV001927805 RCV003156835

NM_007294.4(BRCA1):c.2512A>G (p.Asn838Asp)

SNV
Germline

Chr17:43093019

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10596972

rs_2154373420

2 SubmittersRCV001940939 RCV003156872

NM_000059.4(BRCA2):c.4048C>G (p.His1350Asp)

SNV
Germline

Chr13:32338403

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA387779101

rs_2137502442

3 SubmittersRCV002030750 RCV003156983 RCV005639383

NM_007294.4(BRCA1):c.2150A>G (p.Glu717Gly)

SNV
Germline

Chr17:43093381

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10597704

rs_2154396821

2 SubmittersRCV002048627 RCV003157068

NM_007294.4(BRCA1):c.2336C>T (p.Thr779Ile)

SNV
Germline

Chr17:43093195

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA10597331

rs_2154382857

4 SubmittersRCV002048684 RCV002443059 RCV004011153

NM_007294.4(BRCA1):c.1049G>T (p.Arg350Ile)

SNV
Germline

Chr17:43094482

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10599963

rs_2054001685

2 SubmittersRCV002042340 RCV003158988

NM_007294.4(BRCA1):c.770A>G (p.His257Arg)

SNV
Germline

Chr17:43094761

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10600542

rs_2154493359

2 SubmittersRCV002042342 RCV003158989

NM_007294.4(BRCA1):c.2743T>A (p.Ser915Thr)

SNV
Germline

Chr17:43092788

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10596504

rs_2154361863

4 SubmittersRCV002051505 RCV003158990

NM_000059.4(BRCA2):c.6212G>A (p.Ser2071Asn)

SNV
Germline

Chr13:32340567

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA387788857

rs_80358861

5 SubmittersRCV001914659 RCV002361146 RCV004009255

NM_000059.4(BRCA2):c.2053G>A (p.Asp685Asn)

SNV
Germline

Chr13:32336408

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387768982

rs_2137482881

2 SubmittersRCV001914709 RCV003159054

NM_000059.4(BRCA2):c.3665C>T (p.Ala1222Val)

SNV
Germline

Chr13:32338020

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387777983

rs_760071561

2 SubmittersRCV001914727 RCV003159055

NM_007294.4(BRCA1):c.4831G>T (p.Ala1611Ser)

SNV
Germline

Chr17:43071083

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10591858

rs_2052400387

3 SubmittersRCV003585186 RCV002013377

NM_000059.4(BRCA2):c.1882C>G (p.Pro628Ala)

SNV
Germline

Chr13:32333360

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387766671

rs_1163156807

2 SubmittersRCV001905493 RCV003159021

NM_007294.4(BRCA1):c.3743C>T (p.Ala1248Val)

SNV
Germline

Chr17:43091788

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10594480

rs_1339736533

2 SubmittersRCV001905507 RCV003159022

NM_000059.4(BRCA2):c.9136T>C (p.Phe3046Leu)

SNV
Germline

Chr13:32380025

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387757838

rs_2072912764

2 SubmittersRCV001911155 RCV004041439

NM_007294.4(BRCA1):c.2291T>C (p.Val764Ala)

SNV
Germline

Chr17:43093240

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10597418

rs_1234701709

3 SubmittersRCV001911179 RCV002458742

NM_000059.4(BRCA2):c.2218C>A (p.Pro740Thr)

SNV
Germline

Chr13:32336573

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387770653

rs_2137484346

2 SubmittersRCV001996707 RCV003156894

NM_000059.4(BRCA2):c.7892T>G (p.Leu2631Arg)

SNV
Germline

Chr13:32362609

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387747131

rs_2072746856

2 SubmittersRCV001971118 RCV005782249

NM_000059.4(BRCA2):c.3530A>T (p.Asp1177Val)

SNV
Germline

Chr13:32337885

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387777104

rs_761130568

3 SubmittersRCV002045080 RCV003157026

NM_007294.4(BRCA1):c.3310A>G (p.Lys1104Glu)

SNV
Germline

Chr17:43092221

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10595368

rs_2154329912

2 SubmittersRCV002020039 RCV003157027

NM_000059.4(BRCA2):c.1610A>C (p.Glu537Ala)

SNV
Germline

Chr13:32333088

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
not specified
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387764865

rs_2072417616

3 SubmittersRCV002045121 RCV002268596 RCV003157028

NM_000059.4(BRCA2):c.839A>G (p.Lys280Arg)

SNV
Germline

Chr13:32332317

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
BRCA2-related disorder

Criteria Provided
Conflicting Classifications

CA387760490

rs_1306507591

4 SubmittersRCV001927535 RCV002440988 RCV004538591

NM_000059.4(BRCA2):c.2437A>G (p.Ile813Val)

SNV
Germline

Chr13:32336792

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387772203

rs_2137486460

2 SubmittersRCV001891315 RCV003156819

NM_000059.4(BRCA2):c.3637G>A (p.Glu1213Lys)

SNV
Germline

Chr13:32337992

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387777924

rs_1566228876

2 SubmittersRCV002014671 RCV003156900

NM_000059.4(BRCA2):c.4976C>T (p.Ser1659Phe)

SNV
Germline

Chr13:32339331

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387783850

rs_1222542759

3 SubmittersRCV001971462 RCV002335003

NM_000059.4(BRCA2):c.5749T>C (p.Ser1917Pro)

SNV
Germline

Chr13:32340104

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387787005

rs_2137520531

2 SubmittersRCV001998343 RCV003156955

NM_000059.4(BRCA2):c.5139T>G (p.Asn1713Lys)

SNV
Germline

Chr13:32339494

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387784193

rs_2072521292

3 SubmittersRCV002018720 RCV003156956

NM_007294.4(BRCA1):c.3056T>G (p.Ile1019Ser)

SNV
Germline

Chr17:43092475

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10595875

rs_2154344910

2 SubmittersRCV002020277 RCV003157040

NM_007294.4(BRCA1):c.2998G>C (p.Glu1000Gln)

SNV
Germline

Chr17:43092533

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10596004

rs_80357124

2 SubmittersRCV001874658 RCV003159035

NM_007294.4(BRCA1):c.1593G>T (p.Met531Ile)

SNV
Germline

Chr17:43093938

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10598857

rs_2154434764

2 SubmittersRCV001903240 RCV003156824

NM_000059.4(BRCA2):c.1143C>G (p.Asp381Glu)

SNV
Germline

Chr13:32332621

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387761814

rs_1593892043

2 SubmittersRCV003156816 RCV001927459

NM_007294.4(BRCA1):c.901A>G (p.Lys301Glu)

SNV
Germline

Chr17:43094630

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA056897

rs_756859863

2 SubmittersRCV001898640 RCV003156817

NM_007294.4(BRCA1):c.4067A>T (p.Gln1356Leu)

SNV
Germline

Chr17:43091464

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10593825

rs_2154266330

2 SubmittersRCV001901037 RCV003156818

NM_000059.4(BRCA2):c.6260G>T (p.Arg2087Ile)

SNV
Germline

Chr13:32340615

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387788949

rs_1593908026

3 SubmittersRCV001971381 RCV003156954

NM_000059.4(BRCA2):c.6367G>C (p.Glu2123Gln)

SNV
Germline

Chr13:32340722

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387789162

rs_2137526768

3 SubmittersRCV002028964 RCV003157037

NM_000059.4(BRCA2):c.4310G>A (p.Ser1437Asn)

SNV
Germline

Chr13:32338665

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387780780

rs_1403318277

3 SubmittersRCV002047884 RCV003157038

NM_007294.4(BRCA1):c.1925A>T (p.Asp642Val)

SNV
Germline

Chr17:43093606

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10598175

rs_786204049

2 SubmittersRCV002047904 RCV003157039

NM_007294.4(BRCA1):c.3245C>A (p.Ala1082Asp)

SNV
Germline

Chr17:43092286

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10595493

rs_1555588115

2 SubmittersRCV001902967 RCV003156823

NM_000059.4(BRCA2):c.3041A>G (p.Asn1014Ser)

SNV
Germline

Chr13:32337396

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387774993

rs_2137492474

3 SubmittersRCV001928985 RCV003156860

NM_000059.4(BRCA2):c.6502G>C (p.Gly2168Arg)

SNV
Germline

Chr13:32340857

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387789547

rs_886040660

2 SubmittersRCV001980271 RCV003156984

NM_000059.4(BRCA2):c.425+5G>C

SNV
Germline

Chr13:32325189

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA609084560

rs_1388671241

2 SubmittersRCV001980279

NM_000059.4(BRCA2):c.3766C>G (p.His1256Asp)

SNV
Germline

Chr13:32338121

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387778239

rs_2137499777

2 SubmittersRCV002021321 RCV003157070

NM_007294.4(BRCA1):c.3632C>T (p.Ser1211Phe)

SNV
Germline

Chr17:43091899

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10594702

rs_1555587377

2 SubmittersRCV001869947 RCV003158995

NM_000059.4(BRCA2):c.4192G>C (p.Ala1398Pro)

SNV
Germline

Chr13:32338547

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387780173

rs_876659902

4 SubmittersRCV001863254 RCV003158996

NM_000059.4(BRCA2):c.4481G>T (p.Ser1494Ile)

SNV
Germline

Chr13:32338836

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387781506

rs_1593902517

2 SubmittersRCV001892275 RCV003159057

NM_007294.4(BRCA1):c.3845A>G (p.Glu1282Gly)

SNV
Germline

Chr17:43091686

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10594275

rs_80357217

5 SubmittersRCV001886379 RCV003159058 RCV004010749 RCV004779168

NM_000059.4(BRCA2):c.3919G>A (p.Glu1307Lys)

SNV
Germline

Chr13:32338274

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387778820

rs_2137501256

2 SubmittersRCV001886432 RCV003159059

NM_007294.4(BRCA1):c.1862A>C (p.His621Pro)

SNV
Germline

Chr17:43093669

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10598295

rs_2053871006

2 SubmittersRCV001895057 RCV003159060

NM_000059.4(BRCA2):c.1268T>A (p.Ile423Asn)

SNV
Germline

Chr13:32332746

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387762363

rs_2137469393

2 SubmittersRCV001909444 RCV003156839

NM_007294.4(BRCA1):c.4028A>G (p.Asp1343Gly)

SNV
Germline

Chr17:43091503

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10593902

rs_775339017

2 SubmittersRCV001916853 RCV003156857

NM_007294.4(BRCA1):c.3755T>G (p.Leu1252Arg)

SNV
Germline

Chr17:43091776

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10594461

rs_1555587147

2 SubmittersRCV001917021 RCV003156858

NM_007294.4(BRCA1):c.1854G>C (p.Arg618Ser)

SNV
Germline

Chr17:43093677

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10598313

rs_1060504585

2 SubmittersRCV002012177 RCV003156898

NM_007294.4(BRCA1):c.3349G>C (p.Val1117Leu)

SNV
Germline

Chr17:43092182

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10595278

rs_2154326025

2 SubmittersRCV001977670 RCV003156952

NM_000059.4(BRCA2):c.2922C>A (p.Asp974Glu)

SNV
Germline

Chr13:32337277

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387774211

rs_929538989

2 SubmittersRCV002047652 RCV003157033

NM_000059.4(BRCA2):c.2212T>C (p.Cys738Arg)

SNV
Germline

Chr13:32336567

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387770588

rs_2137484294

2 SubmittersRCV002047690 RCV003157034

NM_000059.4(BRCA2):c.6798T>G (p.Asn2266Lys)

SNV
Germline

Chr13:32341153

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387791341

rs_2137530753

2 SubmittersRCV001894573 RCV003159032

NM_007294.4(BRCA1):c.2069A>G (p.Lys690Arg)

SNV
Germline

Chr17:43093462

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA10597865

rs_2154401162

3 SubmittersRCV001901244 RCV003156820 RCV003607429

NM_000059.4(BRCA2):c.5395G>A (p.Ala1799Thr)

SNV
Germline

Chr13:32339750

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387785289

rs_2137517102

3 SubmittersRCV001954716 RCV002344052

NM_000059.4(BRCA2):c.6797A>T (p.Asn2266Ile)

SNV
Germline

Chr13:32341152

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387791338

rs_2072565540

2 SubmittersRCV001928816 RCV003156859

NM_000059.4(BRCA2):c.9616C>T (p.Gln3206Ter)

SNV
Germline

Chr13:32397012

Pathogenic

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA387763665

rs_80359233

2 SubmittersRCV001993327 RCV005782240

NM_007294.4(BRCA1):c.2293G>C (p.Glu765Gln)

SNV
Germline

Chr17:43093238

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10597415

rs_80357449

2 SubmittersRCV001990891 RCV003156963

NM_007294.4(BRCA1):c.1094G>C (p.Arg365Thr)

SNV
Germline

Chr17:43094437

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10599871

rs_2053994698

3 SubmittersRCV001990895 RCV003156964

NM_000059.4(BRCA2):c.2845T>A (p.Tyr949Asn)

SNV
Germline

Chr13:32337200

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387773906

rs_1328742081

2 SubmittersRCV002038170 RCV003157047

NM_000059.4(BRCA2):c.66A>C (p.Ala22=)

SNV
Germline

Chr13:32316526

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Pilocytic astrocytoma

Criteria Provided
Conflicting Classifications

CA483272671

rs_1555280115

3 SubmittersRCV001878829 RCV004601562 RCV006605353

NM_007294.4(BRCA1):c.1246C>G (p.Leu416Val)

SNV
Germline

Chr17:43094285

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10599560

rs_1567800325

3 SubmittersRCV001893602 RCV002388793

NM_000059.4(BRCA2):c.1016A>T (p.Asp339Val)

SNV
Germline

Chr13:32332494

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387761109

rs_1244056899

2 SubmittersRCV001926808 RCV003156862

NM_000059.4(BRCA2):c.5880T>A (p.Cys1960Ter)

SNV
Germline

Chr13:32340235

Pathogenic

Hereditary breast ovarian cancer syndrome

Criteria Provided
Single Submitter

CA387787458

rs_368055906

1 SubmittersRCV002000196

NM_000059.4(BRCA2):c.4483G>T (p.Val1495Phe)

SNV
Germline

Chr13:32338838

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387781512

rs_80358680

2 SubmittersRCV002000427 RCV003156970

NM_007294.4(BRCA1):c.4588A>T (p.Lys1530Ter)

SNV
Germline

Chr17:43074418

Pathogenic

Hereditary breast ovarian cancer syndrome

Criteria Provided
Single Submitter

CA10592336

rs_764016240

1 SubmittersRCV001993194

NM_000059.4(BRCA2):c.9257-2A>T

SNV
Germline

Chr13:32394687

Pathogenic

Hereditary breast ovarian cancer syndrome

Criteria Provided
Single Submitter

CA387760702

rs_886040954

1 SubmittersRCV001993195

NM_000059.4(BRCA2):c.4609G>T (p.Glu1537Ter)

SNV
Germline

Chr13:32338964

Pathogenic

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA387782004

rs_753244927

2 SubmittersRCV001993219 RCV003170162

NM_000059.4(BRCA2):c.2883G>T (p.Gln961His)

SNV
Germline

Chr13:32337238

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387774084

rs_11571655

2 SubmittersRCV001998652 RCV003156962

NM_000059.4(BRCA2):c.3505A>C (p.Asn1169His)

SNV
Germline

Chr13:32337860

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387776968

rs_2137497330

2 SubmittersRCV002035949 RCV003157045

NM_000059.4(BRCA2):c.2382G>A (p.Met794Ile)

SNV
Germline

Chr13:32336737

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387771851

rs_1555282646

4 SubmittersRCV002035960 RCV003157046

NM_000059.4(BRCA2):c.5117A>G (p.Asn1706Ser)

SNV
Germline

Chr13:32339472

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA247509061

rs_730881536

3 SubmittersRCV002006808 RCV002346283

NM_000059.4(BRCA2):c.4139T>C (p.Ile1380Thr)

SNV
Germline

Chr13:32338494

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387779411

rs_2137503277

3 SubmittersRCV001877227 RCV003159036

NM_000059.4(BRCA2):c.6016A>G (p.Ser2006Gly)

SNV
Germline

Chr13:32340371

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387787727

rs_2072544288

3 SubmittersRCV001899375 RCV002359323

NM_000059.4(BRCA2):c.2769G>T (p.Lys923Asn)

SNV
Germline

Chr13:32337124

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA387773680

rs_2137489694

5 SubmittersRCV001878711 RCV003159037 RCV004804272

NM_007294.4(BRCA1):c.3456C>A (p.Asp1152Glu)

SNV
Germline

Chr17:43092075

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10595071

rs_2154314157

2 SubmittersRCV001878714 RCV003159038

NM_007294.4(BRCA1):c.3100A>G (p.Asn1034Asp)

SNV
Germline

Chr17:43092431

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10595789

rs_2154342594

3 SubmittersRCV001915064 RCV003156826

NM_000059.4(BRCA2):c.3086T>C (p.Met1029Thr)

SNV
Germline

Chr13:32337441

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387775241

rs_2137493039

2 SubmittersRCV002000272 RCV003156968

NM_007294.4(BRCA1):c.3872G>A (p.Cys1291Tyr)

SNV
Germline

Chr17:43091659

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA059134

rs_781212379

3 SubmittersRCV001968493 RCV003156911

NM_000059.4(BRCA2):c.6167C>T (p.Ser2056Phe)

SNV
Germline

Chr13:32340522

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387788349

rs_2137524924

3 SubmittersRCV001985747 RCV002352661

NM_000059.4(BRCA2):c.6181G>C (p.Ala2061Pro)

SNV
Germline

Chr13:32340536

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387788395

rs_1555284585

2 SubmittersRCV001983740 RCV003156985

NM_007294.4(BRCA1):c.3767C>T (p.Thr1256Ile)

SNV
Germline

Chr17:43091764

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10594436

rs_2154289053

2 SubmittersRCV002024510 RCV003157072

NM_000059.4(BRCA2):c.3563T>C (p.Ile1188Thr)

SNV
Germline

Chr13:32337918

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387777295

rs_2137497887

3 SubmittersRCV002024539 RCV003157073

NM_007294.4(BRCA1):c.3762G>T (p.Lys1254Asn)

SNV
Germline

Chr17:43091769

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Breast-ovarian cancer, familial, susceptibility to, 1
Fanconi anemia, complementation group S
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA10594450

rs_2053529032

5 SubmittersRCV002024551 RCV002346313 RCV004011160 RCV005361927

NM_007294.4(BRCA1):c.1049G>C (p.Arg350Thr)

SNV
Germline

Chr17:43094482

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10599964

rs_2054001685

2 SubmittersRCV002024604 RCV003157074

NM_000059.4(BRCA2):c.6278A>G (p.His2093Arg)

SNV
Germline

Chr13:32340633

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA387788985

rs_1218113889

4 SubmittersRCV001866589 RCV002361098 RCV004998971

NM_007294.4(BRCA1):c.2297G>C (p.Ser766Thr)

SNV
Germline

Chr17:43093234

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10597407

rs_1567796224

2 SubmittersRCV001897476 RCV003159063

NM_007294.4(BRCA1):c.1307C>A (p.Pro436His)

SNV
Germline

Chr17:43094224

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10599438

rs_2154459839

5 SubmittersRCV001922154 RCV002259150

NM_000059.4(BRCA2):c.3262C>A (p.Pro1088Thr)

SNV
Germline

Chr13:32337617

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387776017

rs_80358572

2 SubmittersRCV001890310 RCV003159064

NM_007294.4(BRCA1):c.1433C>G (p.Thr478Ser)

SNV
Germline

Chr17:43094098

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10599177

rs_2154446383

2 SubmittersRCV001916080 RCV003156842

NM_000059.4(BRCA2):c.4948A>T (p.Ser1650Cys)

SNV
Germline

Chr13:32339303

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387783742

rs_2137511971

2 SubmittersRCV001956872 RCV003156917

NM_007294.4(BRCA1):c.2984A>C (p.Lys995Thr)

SNV
Germline

Chr17:43092547

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10596031

rs_1567793358

2 SubmittersRCV001956878 RCV003156918

NM_000059.4(BRCA2):c.4208C>G (p.Thr1403Ser)

SNV
Germline

Chr13:32338563

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387780250

rs_2072498862

2 SubmittersRCV001971689 RCV003156957

NM_007294.4(BRCA1):c.2020C>T (p.Pro674Ser)

SNV
Germline

Chr17:43093511

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10597968

rs_1567797243

2 SubmittersRCV001998413 RCV003156958

NM_000059.4(BRCA2):c.3576T>A (p.Phe1192Leu)

SNV
Germline

Chr13:32337931

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387777361

rs_2137497999

2 SubmittersRCV002018807 RCV003156959

NM_007294.4(BRCA1):c.3860A>G (p.Glu1287Gly)

SNV
Germline

Chr17:43091671

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10594241

rs_2053510326

3 SubmittersRCV001971720 RCV003156960

NM_000059.4(BRCA2):c.5030G>C (p.Arg1677Thr)

SNV
Germline

Chr13:32339385

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387783980

rs_375304428

3 SubmittersRCV001999562 RCV003151880 RCV003157042

NM_000059.4(BRCA2):c.8176T>A (p.Tyr2726Asn)

SNV
Germline

Chr13:32363378

Likely pathogenic

Hereditary breast ovarian cancer syndrome

Criteria Provided
Single Submitter

CA387749624

rs_2137581441

1 SubmittersRCV002004210

NM_007294.4(BRCA1):c.3866C>T (p.Thr1289Ile)

SNV
Germline

Chr17:43091665

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
BRCA1-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA10594226

rs_2154280244

3 SubmittersRCV001921630 RCV003156861 RCV004804309

NM_000059.4(BRCA2):c.3233T>C (p.Val1078Ala)

SNV
Germline

Chr13:32337588

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387775928

rs_1270386176

2 SubmittersRCV001976907 RCV003156965

NM_007294.4(BRCA1):c.854A>G (p.His285Arg)

SNV
Germline

Chr17:43094677

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified

Criteria Provided
Conflicting Classifications

CA10600375

rs_2154489161

4 SubmittersRCV001985773 RCV002442981 RCV003479382

NM_000059.4(BRCA2):c.6055A>G (p.Asn2019Asp)

SNV
Germline

Chr13:32340410

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387787899

rs_2137523721

3 SubmittersRCV001874718 RCV002359327

NM_000059.4(BRCA2):c.5891A>T (p.Lys1964Met)

SNV
Germline

Chr13:32340246

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387787479

rs_80358821

3 SubmittersRCV001874732 RCV002359328

NM_000059.4(BRCA2):c.4750G>A (p.Glu1584Lys)

SNV
Germline

Chr13:32339105

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387783081

rs_745632282

2 SubmittersRCV003156975 RCV002002945

NM_000059.4(BRCA2):c.1118A>C (p.Gln373Pro)

SNV
Germline

Chr13:32332596

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA387761649

rs_2137467818

4 SubmittersRCV002011520 RCV002441208 RCV004011131

NM_007294.4(BRCA1):c.3794A>G (p.Asn1265Ser)

SNV
Germline

Chr17:43091737

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10594381

rs_2154286843

3 SubmittersRCV002043018 RCV003157054

NM_000059.4(BRCA2):c.3996T>A (p.His1332Gln)

SNV
Germline

Chr13:32338351

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387778983

rs_1593901143

2 SubmittersRCV002009641 RCV003157049

NM_007294.4(BRCA1):c.4076A>G (p.Gln1359Arg)

SNV
Germline

Chr17:43091455

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10593808

rs_1567789002

3 SubmittersRCV002037142 RCV003158971

NM_007294.4(BRCA1):c.750G>C (p.Glu250Asp)

SNV
Germline

Chr17:43094781

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10600584

rs_762867923

3 SubmittersRCV003158972 RCV002037160

NM_000059.4(BRCA2):c.1139G>A (p.Ser380Asn)

SNV
Germline

Chr13:32332617

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387761785

rs_780798665

2 SubmittersRCV001896579 RCV003156827

NM_000059.4(BRCA2):c.6112C>G (p.His2038Asp)

SNV
Germline

Chr13:32340467

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387788134

rs_587778123

3 SubmittersRCV001918046 RCV002359383

NM_000059.4(BRCA2):c.6404A>G (p.Asn2135Ser)

SNV
Germline

Chr13:32340759

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387789244

rs_2137527179

2 SubmittersRCV001949882 RCV003156866

NM_000059.4(BRCA2):c.6199T>G (p.Ser2067Ala)

SNV
Germline

Chr13:32340554

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387788832

rs_143806921

2 SubmittersRCV001933593 RCV003156867

NM_007294.4(BRCA1):c.2162T>G (p.Phe721Cys)

SNV
Germline

Chr17:43093369

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10597679

rs_2154396157

2 SubmittersRCV001994348 RCV003156973

NM_007294.4(BRCA1):c.1169A>C (p.Asp390Ala)

SNV
Germline

Chr17:43094362

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10599713

rs_2154472427

2 SubmittersRCV002025112 RCV003156974

NM_000059.4(BRCA2):c.2215C>T (p.His739Tyr)

SNV
Germline

Chr13:32336570

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387770621

rs_1555282536

2 SubmittersRCV002011491 RCV003157053

NM_007294.4(BRCA1):c.2066G>C (p.Ser689Thr)

SNV
Germline

Chr17:43093465

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10597871

rs_779748579

2 SubmittersRCV001989084 RCV003156987

NM_000059.4(BRCA2):c.2794G>C (p.Asp932His)

SNV
Germline

Chr13:32337149

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA387773732

rs_2137489980

4 SubmittersRCV001880451 RCV002440921 RCV003316852

NM_000059.4(BRCA2):c.4538A>C (p.Asp1513Ala)

SNV
Germline

Chr13:32338893

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387781730

rs_1566230577

3 SubmittersRCV001870195 RCV005232684 RCV003159000

NM_000059.4(BRCA2):c.3850A>G (p.Ser1284Gly)

SNV
Germline

Chr13:32338205

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387778607

rs_2137500602

3 SubmittersRCV001895804 RCV003156789

NM_007294.4(BRCA1):c.2913T>A (p.His971Gln)

SNV
Germline

Chr17:43092618

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10596166

rs_786203804

2 SubmittersRCV001924765 RCV003156790

NM_000059.4(BRCA2):c.4715C>A (p.Ala1572Asp)

SNV
Germline

Chr13:32339070

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387782955

rs_2072511378

2 SubmittersRCV001895837 RCV003156791

NM_000059.4(BRCA2):c.9410C>T (p.Thr3137Ile)

SNV
Germline

Chr13:32394842

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387761409

rs_1235953183

2 SubmittersRCV001942949 RCV006362938

NM_000059.4(BRCA2):c.5489C>G (p.Ser1830Cys)

SNV
Germline

Chr13:32339844

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387785753

rs_1593905616

2 SubmittersRCV001943043 RCV003156848

NM_000059.4(BRCA2):c.8134G>C (p.Asp2712His)

SNV
Germline

Chr13:32363336

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387749452

rs_80359056

2 SubmittersRCV001957945 RCV003167421

NM_007294.4(BRCA1):c.4024T>A (p.Ser1342Thr)

SNV
Germline

Chr17:43091507

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10593912

rs_2154268924

2 SubmittersRCV001979572 RCV003156921

NM_000059.4(BRCA2):c.826G>T (p.Val276Leu)

SNV
Germline

Chr13:32332304

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA387760445

rs_1485423178

4 SubmittersRCV001879139 RCV003159039 RCV005645315

NM_000059.4(BRCA2):c.4219G>T (p.Glu1407Ter)

SNV
Germline

Chr13:32338574

Pathogenic

Hereditary breast ovarian cancer syndrome

Criteria Provided
Single Submitter

CA387780296

rs_2137504114

1 SubmittersRCV001915479

NM_000059.4(BRCA2):c.3097G>T (p.Asp1033Tyr)

SNV
Germline

Chr13:32337452

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387775314

rs_780279081

2 SubmittersRCV001994184 RCV003156971

NM_000059.4(BRCA2):c.6077C>T (p.Thr2026Ile)

SNV
Germline

Chr13:32340432

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387787997

rs_1228610692

2 SubmittersRCV002016406 RCV003157050

NM_007294.4(BRCA1):c.3729G>T (p.Arg1243Ser)

SNV
Germline

Chr17:43091802

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10594511

rs_2154292175

2 SubmittersRCV002016419 RCV003157051

NM_007294.4(BRCA1):c.3482A>C (p.Glu1161Ala)

SNV
Germline

Chr17:43092049

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10595015

rs_2053579677

2 SubmittersRCV002016550 RCV003157052

NM_007294.4(BRCA1):c.929A>G (p.Gln310Arg)

SNV
Germline

Chr17:43094602

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10600210

rs_1597879098

2 SubmittersRCV002037462 RCV003158973

NM_000059.4(BRCA2):c.2408A>G (p.Tyr803Cys)

SNV
Germline

Chr13:32336763

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387772017

rs_1566226664

3 SubmittersRCV002041535 RCV002458643

NM_000059.4(BRCA2):c.7219G>A (p.Val2407Ile)

SNV
Germline

Chr13:32355072

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387740069

rs_1387721179

2 SubmittersRCV002041559 RCV006362591

NM_000059.4(BRCA2):c.7054C>A (p.Pro2352Thr)

SNV
Germline

Chr13:32354907

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA6941055

rs_776714935

3 SubmittersRCV001877784 RCV002370418 RCV003464194

NM_000059.4(BRCA2):c.5384A>C (p.Lys1795Thr)

SNV
Germline

Chr13:32339739

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA387785220

rs_1566232357

3 SubmittersRCV001900637 RCV003159045 RCV005620317

NM_000059.4(BRCA2):c.4884A>T (p.Lys1628Asn)

SNV
Germline

Chr13:32339239

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387783504

rs_2072514968

2 SubmittersRCV001925089 RCV003156829

NM_000059.4(BRCA2):c.3365G>A (p.Gly1122Glu)

SNV
Germline

Chr13:32337720

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA6940692

rs_532871047

3 SubmittersRCV001938863 RCV003156869 RCV004010923

NM_000059.4(BRCA2):c.7150C>T (p.Gln2384Ter)

SNV
Germline

Chr13:32355003

Pathogenic

Hereditary breast ovarian cancer syndrome

Criteria Provided
Single Submitter

CA387739168

rs_55977008

1 SubmittersRCV001946957

NM_007294.4(BRCA1):c.1612C>G (p.Gln538Glu)

SNV
Germline

Chr17:43093919

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10598817

rs_80356893

2 SubmittersRCV002005609 RCV003156978

NM_000059.4(BRCA2):c.8203C>A (p.Pro2735Thr)

SNV
Germline

Chr13:32363405

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified

Criteria Provided
Conflicting Classifications

CA387749741

rs_1247198934

3 SubmittersRCV002005837 RCV004946993 RCV005238141

NM_000059.4(BRCA2):c.3381T>G (p.Phe1127Leu)

SNV
Germline

Chr13:32337736

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
not specified
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387776429

rs_1057522933

3 SubmittersRCV002046610 RCV002307767 RCV003158983

NM_000059.4(BRCA2):c.6377G>C (p.Cys2126Ser)

SNV
Germline

Chr13:32340732

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387789184

rs_2137526863

2 SubmittersRCV002029969 RCV003158977

NM_007294.4(BRCA1):c.2801A>G (p.Gln934Arg)

SNV
Germline

Chr17:43092730

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10596396

rs_2154358844

3 SubmittersRCV002030089 RCV003158978

NM_000059.4(BRCA2):c.3171G>C (p.Lys1057Asn)

SNV
Germline

Chr13:32337526

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387775808

rs_2137493933

2 SubmittersRCV002041448 RCV003158979

NM_000059.4(BRCA2):c.5348A>T (p.Lys1783Ile)

SNV
Germline

Chr13:32339703

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387785026

rs_2137516609

2 SubmittersRCV001900501 RCV003159044

NM_000059.4(BRCA2):c.8731G>A (p.Ala2911Thr)

SNV
Germline

Chr13:32376768

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387755004

rs_2137613329

2 SubmittersRCV001883032 RCV004040610

NM_007294.4(BRCA1):c.1887A>C (p.Arg629Ser)

SNV
Germline

Chr17:43093644

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10598248

rs_2154413792

3 SubmittersRCV001964964 RCV003156868

NM_000059.4(BRCA2):c.7806-2A>C

SNV
Germline

Chr13:32362521

Pathogenic/Likely pathogenic

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA387746909

rs_81002836

3 SubmittersRCV001951102 RCV003136374 RCV002407186

NM_000059.4(BRCA2):c.6773A>G (p.Glu2258Gly)

SNV
Germline

Chr13:32341128

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387791228

rs_2137530584

2 SubmittersRCV002028130 RCV003156977

NM_000059.4(BRCA2):c.3025T>C (p.Phe1009Leu)

SNV
Germline

Chr13:32337380

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387774881

rs_2137492339

4 SubmittersRCV002441157 RCV002028173

NM_000059.4(BRCA2):c.4780A>G (p.Met1594Val)

SNV
Germline

Chr13:32339135

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387783201

rs_2137510137

2 SubmittersRCV002016825 RCV003157058

NM_007294.4(BRCA1):c.3908T>G (p.Leu1303Trp)

SNV
Germline

Chr17:43091623

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10594147

rs_2154277653

2 SubmittersRCV002033348 RCV003158982

NM_000059.4(BRCA2):c.9342T>G (p.Ile3114Met)

SNV
Germline

Chr13:32394774

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387761055

rs_1298195804

2 SubmittersRCV002044328 RCV002370355

NM_000059.4(BRCA2):c.3945A>T (p.Arg1315Ser)

SNV
Germline

Chr13:32338300

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387778879

rs_2137501449

3 SubmittersRCV001986910 RCV003156996

NM_000059.4(BRCA2):c.1690C>T (p.Pro564Ser)

SNV
Germline

Chr13:32333168

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387765195

rs_2137473929

2 SubmittersRCV002036181 RCV003157081

NM_007294.4(BRCA1):c.1411C>T (p.Leu471Phe)

SNV
Germline

Chr17:43094120

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA10599224

rs_1282963652

4 SubmittersRCV006251107 RCV002048759 RCV003157082 RCV004011174

NM_007294.4(BRCA1):c.3160G>T (p.Val1054Leu)

SNV
Germline

Chr17:43092371

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10595662

rs_876658479

2 SubmittersRCV002036341 RCV003157083

NM_000059.4(BRCA2):c.3145A>G (p.Asn1049Asp)

SNV
Germline

Chr13:32337500

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387775755

rs_2137493626

2 SubmittersRCV002048809 RCV003157084

NM_000059.4(BRCA2):c.1637G>A (p.Cys546Tyr)

SNV
Germline

Chr13:32333115

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387764948

rs_2137473440

2 SubmittersRCV001871486 RCV003156794

NM_000059.4(BRCA2):c.1287A>C (p.Leu429Phe)

SNV
Germline

Chr13:32332765

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387762459

rs_80359782

2 SubmittersRCV001968682 RCV003156925

NM_000059.4(BRCA2):c.3179G>T (p.Ser1060Ile)

SNV
Germline

Chr13:32337534

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387775824

rs_2072474262

3 SubmittersRCV001991392 RCV003157000

NM_000059.4(BRCA2):c.4885A>T (p.Thr1629Ser)

SNV
Germline

Chr13:32339240

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387783507

rs_879255455

2 SubmittersRCV003157001 RCV002028287

NM_000059.4(BRCA2):c.5060T>A (p.Leu1687His)

SNV
Germline

Chr13:32339415

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387784038

rs_2072519361

2 SubmittersRCV003157085 RCV002031876

NM_007294.4(BRCA1):c.2237A>C (p.Asp746Ala)

SNV
Germline

Chr17:43093294

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10597526

rs_2154388675

4 SubmittersRCV001900303 RCV002425152

NM_000059.4(BRCA2):c.3269T>G (p.Met1090Arg)

SNV
Germline

Chr13:32337624

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387776045

rs_2137494922

3 SubmittersRCV001875169 RCV003159042

NM_000059.4(BRCA2):c.7436-2A>C

SNV
Germline

Chr13:32356426

Pathogenic

Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA387742928

rs_397507917

2 SubmittersRCV001896816 RCV003478893

NM_007294.4(BRCA1):c.2905A>T (p.Asn969Tyr)

SNV
Germline

Chr17:43092626

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10596183

rs_587781641

3 SubmittersRCV002014077 RCV002441210

NM_000059.4(BRCA2):c.4972C>G (p.Gln1658Glu)

SNV
Germline

Chr13:32339327

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387783830

rs_886038114

2 SubmittersRCV002050567 RCV003158980

NM_000059.4(BRCA2):c.4277C>G (p.Thr1426Arg)

SNV
Germline

Chr13:32338632

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387780591

rs_748591104

2 SubmittersRCV002041711 RCV003158981

NM_000059.4(BRCA2):c.1498G>A (p.Gly500Ser)

SNV
Germline

Chr13:32332976

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387764475

rs_1233016217

3 SubmittersRCV001871202 RCV003159049

NM_000059.4(BRCA2):c.7969A>G (p.Lys2657Glu)

SNV
Germline

Chr13:32362686

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387747324

rs_2137577993

2 SubmittersRCV001911968 RCV004946804

NM_007294.4(BRCA1):c.4515T>A (p.Asp1505Glu)

SNV
Germline

Chr17:43074491

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10592497

rs_1057522167

2 SubmittersRCV001885901 RCV002334787

NM_007294.4(BRCA1):c.4048G>A (p.Gly1350Ser)

SNV
Germline

Chr17:43091483

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Fanconi anemia, complementation group S
not specified

Criteria Provided
Conflicting Classifications

CA10593866

rs_748674194

6 SubmittersRCV001885902 RCV002250779 RCV003159050 RCV005361784 RCV006266931

NM_007294.4(BRCA1):c.3444G>C (p.Glu1148Asp)

SNV
Germline

Chr17:43092087

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10595096

rs_2154315177

3 SubmittersRCV001898871 RCV002508972 RCV003156832

NM_000059.4(BRCA2):c.3193A>G (p.Ile1065Val)

SNV
Germline

Chr13:32337548

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA387775848

rs_2137494162

3 SubmittersRCV001931601 RCV003156871 RCV004719202

NM_000059.4(BRCA2):c.4352A>T (p.Asp1451Val)

SNV
Germline

Chr13:32338707

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387780934

rs_80358671

2 SubmittersRCV002001177 RCV003156982

NM_000059.4(BRCA2):c.2818C>G (p.Gln940Glu)

SNV
Germline

Chr13:32337173

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387773780

rs_80358532

2 SubmittersRCV002026443 RCV003157063

NM_007294.4(BRCA1):c.2639A>G (p.Glu880Gly)

SNV
Germline

Chr17:43092892

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10596716

rs_2154367305

2 SubmittersRCV001871131 RCV003159048

NM_000059.4(BRCA2):c.7623T>G (p.Tyr2541Ter)

SNV
Germline

Chr13:32357747

Pathogenic

Hereditary breast ovarian cancer syndrome

Criteria Provided
Single Submitter

CA387744771

rs_2137566100

1 SubmittersRCV001949359

NM_000059.4(BRCA2):c.8210T>G (p.Leu2737Ter)

SNV
Germline

Chr13:32363412

Pathogenic

Hereditary breast ovarian cancer syndrome

Criteria Provided
Single Submitter

CA387749771

rs_1566245715

1 SubmittersRCV001956134

NM_000059.4(BRCA2):c.3851G>A (p.Ser1284Asn)

SNV
Germline

Chr13:32338206

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387778615

rs_2137500607

3 SubmittersRCV002030466 RCV003156981

NM_000059.4(BRCA2):c.5205A>T (p.Lys1735Asn)

SNV
Germline

Chr13:32339560

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387784603

rs_1131692115

2 SubmittersRCV002045853 RCV003157061

NM_000059.4(BRCA2):c.1162G>A (p.Val388Ile)

SNV
Germline

Chr13:32332640

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387761917

rs_876660239

2 SubmittersRCV002045858 RCV003157062

NM_000059.4(BRCA2):c.510T>G (p.Phe170Leu)

SNV
Germline

Chr13:32326276

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387757724

rs_2137450631

2 SubmittersRCV002026104 RCV004046771

NM_000059.4(BRCA2):c.10193A>G (p.Gln3398Arg)

SNV
Germline

Chr13:32398706

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA6941479

rs_374275215

2 SubmittersRCV001888628 RCV005782215

NM_000059.4(BRCA2):c.2902G>A (p.Gly968Ser)

SNV
Germline

Chr13:32337257

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387774172

rs_2072467550

3 SubmittersRCV001904519 RCV002440928

NM_000059.4(BRCA2):c.5103A>T (p.Gln1701His)

SNV
Germline

Chr13:32339458

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387784125

rs_878853587

2 SubmittersRCV001904549 RCV003159008

NM_000059.4(BRCA2):c.4033G>C (p.Asp1345His)

SNV
Germline

Chr13:32338388

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387779071

rs_1555283516

3 SubmittersRCV001904702 RCV003159009

NM_000059.4(BRCA2):c.365C>G (p.Thr122Ser)

SNV
Germline

Chr13:32325124

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
not specified

Criteria Provided
Conflicting Classifications

CA387756621

rs_2137446441

2 SubmittersRCV001872409 RCV002268578

NM_000059.4(BRCA2):c.808T>A (p.Ser270Thr)

SNV
Germline

Chr13:32332286

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387760383

rs_1566222098

2 SubmittersRCV001883979 RCV003156797

NM_000059.4(BRCA2):c.1935A>C (p.Arg645Ser)

SNV
Germline

Chr13:32336290

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387768331

rs_1555282366

2 SubmittersRCV001884126 RCV003156798

NM_007294.4(BRCA1):c.2126T>C (p.Phe709Ser)

SNV
Germline

Chr17:43093405

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10597753

rs_1567796937

3 SubmittersRCV001908186 RCV003156799

NM_000059.4(BRCA2):c.6032T>C (p.Phe2011Ser)

SNV
Germline

Chr13:32340387

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387787792

rs_2137523459

2 SubmittersRCV001969791 RCV003156882

NM_000059.4(BRCA2):c.2516A>G (p.Tyr839Cys)

SNV
Germline

Chr13:32336871

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387772455

rs_2137487301

3 SubmittersRCV001961735 RCV002425346

NM_000059.4(BRCA2):c.2933A>C (p.Asn978Thr)

SNV
Germline

Chr13:32337288

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387774255

rs_775890004

3 SubmittersRCV003156932 RCV001961736

NM_007294.4(BRCA1):c.1622A>G (p.Gln541Arg)

SNV
Germline

Chr17:43093909

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10598798

rs_2154433518

2 SubmittersRCV002019354 RCV003157009

NM_000059.4(BRCA2):c.3974C>G (p.Thr1325Ser)

SNV
Germline

Chr13:32338329

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387778941

rs_1593901084

2 SubmittersRCV003157010 RCV002019816

NM_007294.4(BRCA1):c.1046A>G (p.Glu349Gly)

SNV
Germline

Chr17:43094485

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10599971

rs_2154478875

2 SubmittersRCV003157011 RCV002019825

NM_000059.4(BRCA2):c.4165T>A (p.Phe1389Ile)

SNV
Germline

Chr13:32338520

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387780057

rs_1409088355

2 SubmittersRCV001996121 RCV003157012

NM_000059.4(BRCA2):c.1439G>T (p.Cys480Phe)

SNV
Germline

Chr13:32332917

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387764295

rs_587782648

3 SubmittersRCV001899790 RCV003159012

NM_007294.4(BRCA1):c.1764C>A (p.Ser588Arg)

SNV
Germline

Chr17:43093767

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10598499

rs_1597874296

2 SubmittersRCV001899820 RCV003159013

NM_000059.4(BRCA2):c.1527A>C (p.Arg509Ser)

SNV
Germline

Chr13:32333005

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387764580

rs_28657708

2 SubmittersRCV001931968 RCV003159014

NM_000059.4(BRCA2):c.1924T>A (p.Ser642Thr)

SNV
Germline

Chr13:32336279

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387768265

rs_2137481857

3 SubmittersRCV001939031 RCV002407105

NM_000059.4(BRCA2):c.8486A>C (p.Gln2829Pro)

SNV
Germline

Chr13:32370556

Likely pathogenic

Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA387752646

rs_80359100

2 SubmittersRCV002005945 RCV004999591

NM_000059.4(BRCA2):c.5921C>G (p.Thr1974Ser)

SNV
Germline

Chr13:32340276

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387787535

rs_55730620

2 SubmittersRCV002008291 RCV003156979

NM_000059.4(BRCA2):c.4148A>T (p.Asp1383Val)

SNV
Germline

Chr13:32338503

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387779985

rs_2137503361

2 SubmittersRCV002022968 RCV003157059

NM_007294.4(BRCA1):c.3172A>T (p.Ile1058Phe)

SNV
Germline

Chr17:43092359

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10595643

rs_1064795478

2 SubmittersRCV003157060 RCV002045650

NM_000059.4(BRCA2):c.2672T>C (p.Val891Ala)

SNV
Germline

Chr13:32337027

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387773390

rs_1593897497

2 SubmittersRCV001885983 RCV003159051

NM_000059.4(BRCA2):c.4501A>G (p.Asn1501Asp)

SNV
Germline

Chr13:32338856

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387781581

rs_1555283811

4 SubmittersRCV001889741 RCV004009251 RCV003159052

NM_000059.4(BRCA2):c.6589A>G (p.Thr2197Ala)

SNV
Germline

Chr13:32340944

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA387790009

rs_2137528860

4 SubmittersRCV001899023 RCV003156833 RCV005361806

NM_000059.4(BRCA2):c.3922G>C (p.Glu1308Gln)

SNV
Germline

Chr13:32338277

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387778830

rs_80358638

3 SubmittersRCV001948557 RCV002370551

NM_000059.4(BRCA2):c.6041T>C (p.Val2014Ala)

SNV
Germline

Chr13:32340396

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387787836

rs_2137523581

2 SubmittersRCV001959951 RCV003156875

NM_000059.4(BRCA2):c.6706G>T (p.Glu2236Ter)

SNV
Germline

Chr13:32341061

Pathogenic

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA387790972

rs_41293503

2 SubmittersRCV001951296 RCV005792244

NM_000059.4(BRCA2):c.3038C>G (p.Ser1013Ter)

SNV
Germline

Chr13:32337393

Pathogenic

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA387774968

rs_2137492443

2 SubmittersRCV001982960 RCV002441106

NM_000059.4(BRCA2):c.9226G>A (p.Gly3076Arg)

SNV
Germline

Chr13:32380115

Likely pathogenic

Hereditary breast ovarian cancer syndrome

Criteria Provided
Single Submitter

CA387758500

rs_1566253644

1 SubmittersRCV002033601

NM_058216.3(RAD51C):c.1026+6T>A

SNV
Germline

Chr17:58732550

Conflicting classifications of pathogenicity

Fanconi anemia complementation group O
Breast-ovarian cancer, familial, susceptibility to, 3
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA400365328

rs_2144046795

4 SubmittersRCV002008907 RCV003464362 RCV005414286 RCV005714723

NM_000059.4(BRCA2):c.2347G>A (p.Val783Ile)

SNV
Germline

Chr13:32336702

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387771616

rs_1566226546

4 SubmittersRCV002047264 RCV002256849

NM_007294.4(BRCA1):c.1096G>A (p.Asp366Asn)

SNV
Germline

Chr17:43094435

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10599867

rs_1289961661

2 SubmittersRCV002047320 RCV003158992

NM_000059.4(BRCA2):c.6408A>T (p.Leu2136Phe)

SNV
Germline

Chr13:32340763

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387789254

rs_2137527249

2 SubmittersRCV002047338 RCV003158993

NM_007294.4(BRCA1):c.1687C>A (p.Gln563Lys)

SNV
Germline

Chr17:43093844

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10598657

rs_80356898

2 SubmittersRCV001909255 RCV003156838

NM_000059.4(BRCA2):c.1567C>G (p.His523Asp)

SNV
Germline

Chr13:32333045

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387764717

rs_2072416501

3 SubmittersRCV001918476 RCV002397891

NM_000059.4(BRCA2):c.1469G>A (p.Gly490Glu)

SNV
Germline

Chr13:32332947

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387764390

rs_2137471813

3 SubmittersRCV001903512 RCV002255700

NM_007294.4(BRCA1):c.2359G>C (p.Glu787Gln)

SNV
Germline

Chr17:43093172

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10597292

rs_1288796003

4 SubmittersRCV001981930 RCV002442896

NM_000059.4(BRCA2):c.5282G>T (p.Gly1761Val)

SNV
Germline

Chr13:32339637

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387784766

rs_80358752

3 SubmittersRCV001959797 RCV003156873

NM_000059.4(BRCA2):c.6211A>G (p.Ser2071Gly)

SNV
Germline

Chr13:32340566

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387788855

rs_80358860

3 SubmittersRCV001981939 RCV003156874

NM_000059.4(BRCA2):c.7822C>A (p.Pro2608Thr)

SNV
Germline

Chr13:32362539

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA387746987

rs_879255308

3 SubmittersRCV001959799 RCV003167358 RCV005601839

NM_000059.4(BRCA2):c.8748C>A (p.Tyr2916Ter)

SNV
Germline

Chr13:32376785

Pathogenic

Hereditary breast ovarian cancer syndrome

Criteria Provided
Single Submitter

CA387755074

rs_2137613497

1 SubmittersRCV001959079

NM_000059.4(BRCA2):c.8671A>C (p.Thr2891Pro)

SNV
Germline

Chr13:32376708

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA387754743

rs_2137612680

3 SubmittersRCV002033510 RCV004946997 RCV004011071

NM_000059.4(BRCA2):c.9097A>G (p.Thr3033Ala)

SNV
Germline

Chr13:32379893

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387757674

rs_766308212

2 SubmittersRCV002033552 RCV002443004

NM_007294.4(BRCA1):c.3129T>A (p.Asn1043Lys)

SNV
Germline

Chr17:43092402

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10595727

rs_1555588339

2 SubmittersRCV002018643 RCV003157065

NM_000059.4(BRCA2):c.6027A>C (p.Gln2009His)

SNV
Germline

Chr13:32340382

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387787773

rs_1131692109

2 SubmittersRCV002029314 RCV003157066

NM_000059.4(BRCA2):c.4943C>A (p.Ala1648Glu)

SNV
Germline

Chr13:32339298

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387783719

rs_1449458592

3 SubmittersRCV002044792 RCV003158991

NM_000059.4(BRCA2):c.7406C>T (p.Thr2469Ile)

SNV
Germline

Chr13:32355259

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387741888

rs_2137558833

2 SubmittersRCV002044892 RCV002386598

NM_007294.4(BRCA1):c.4086T>A (p.Asp1362Glu)

SNV
Germline

Chr17:43091445

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10593786

rs_2154264837

4 SubmittersRCV001914804 RCV004009258 RCV002324271

NM_007294.4(BRCA1):c.3322A>G (p.Ile1108Val)

SNV
Germline

Chr17:43092209

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10595340

rs_2154329049

3 SubmittersRCV001891976 RCV002458711

NM_007294.4(BRCA1):c.1288G>C (p.Asp430His)

SNV
Germline

Chr17:43094243

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10599479

rs_2154461295

2 SubmittersRCV001981353 RCV003156887

NM_000059.4(BRCA2):c.4036A>G (p.Thr1346Ala)

SNV
Germline

Chr13:32338391

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA387779079

rs_2137502300

4 SubmittersRCV001981453 RCV002352627 RCV003149011

NM_000059.4(BRCA2):c.475+1G>C

SNV
Germline

Chr13:32326151

Pathogenic

Hereditary breast ovarian cancer syndrome

Criteria Provided
Single Submitter

CA387757261

rs_81002797

1 SubmittersRCV001981458

NM_000059.4(BRCA2):c.1528G>A (p.Glu510Lys)

SNV
Germline

Chr13:32333006

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387764583

rs_80358438

2 SubmittersRCV003156937 RCV001975639

NM_000059.4(BRCA2):c.4649A>T (p.Glu1550Val)

SNV
Germline

Chr13:32339004

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387782186

rs_876660887

2 SubmittersRCV003157018 RCV002003985

NM_000059.4(BRCA2):c.8906T>C (p.Val2969Ala)

SNV
Germline

Chr13:32379468

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387757247

rs_2137620350

2 SubmittersRCV001902100 RCV003299064

NM_000059.4(BRCA2):c.5059C>G (p.Leu1687Val)

SNV
Germline

Chr13:32339414

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387784036

rs_1408726129

3 SubmittersRCV001902117 RCV002334758

NM_007294.4(BRCA1):c.1554C>G (p.Ile518Met)

SNV
Germline

Chr17:43093977

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10598938

rs_1064794487

2 SubmittersRCV001934861 RCV003159018

NM_000059.4(BRCA2):c.2963A>T (p.Asp988Val)

SNV
Germline

Chr13:32337318

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA387774469

rs_876659509

5 SubmittersRCV001902230 RCV002256853 RCV004804263

NM_000059.4(BRCA2):c.2721G>C (p.Lys907Asn)

SNV
Germline

Chr13:32337076

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387773571

rs_2137489215

2 SubmittersRCV001891246 RCV003156805

NM_007294.4(BRCA1):c.2348T>A (p.Ile783Asn)

SNV
Germline

Chr17:43093183

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA058639

rs_562370358

2 SubmittersRCV001952042 RCV003156854

NM_000059.4(BRCA2):c.9487A>T (p.Lys3163Ter)

SNV
Germline

Chr13:32394919

Pathogenic

Hereditary breast ovarian cancer syndrome

Criteria Provided
Single Submitter

CA387761842

rs_2137654496

1 SubmittersRCV001930942

NM_000059.4(BRCA2):c.2855C>T (p.Ala952Val)

SNV
Germline

Chr13:32337210

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA6940636

rs_761934778

3 SubmittersRCV001958323 RCV003156891

NM_007294.4(BRCA1):c.1373A>T (p.Asp458Val)

SNV
Germline

Chr17:43094158

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10599297

rs_2154450396

3 SubmittersRCV002018615 RCV003157064

NM_000059.4(BRCA2):c.5618T>C (p.Val1873Ala)

SNV
Germline

Chr13:32339973

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387786103

rs_2137519186

2 SubmittersRCV002051387 RCV003158986

NM_000059.4(BRCA2):c.6710A>G (p.Asp2237Gly)

SNV
Germline

Chr13:32341065

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387790994

rs_2137530022

3 SubmittersRCV002042252 RCV003158987

NM_007294.4(BRCA1):c.2841A>C (p.Lys947Asn)

SNV
Germline

Chr17:43092690

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10596306

rs_864622618

2 SubmittersRCV001881168 RCV003159053

NM_000059.4(BRCA2):c.4978C>T (p.Pro1660Ser)

SNV
Germline

Chr13:32339333

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387783854

rs_2137512328

3 SubmittersRCV001906742 RCV002265045 RCV003156836

NM_007294.4(BRCA1):c.904G>A (p.Ala302Thr)

SNV
Germline

Chr17:43094627

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10600268

rs_2154486087

2 SubmittersRCV001935300 RCV003156837

NM_000059.4(BRCA2):c.4220A>T (p.Glu1407Val)

SNV
Germline

Chr13:32338575

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387780304

rs_1593901726

2 SubmittersRCV001944315 RCV003156876

NM_000059.4(BRCA2):c.1537A>T (p.Lys513Ter)

SNV
Germline

Chr13:32333015

Pathogenic

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA387764613

rs_1555281938

2 SubmittersRCV001962416 RCV002397955

NM_007294.4(BRCA1):c.3427T>C (p.Ser1143Pro)

SNV
Germline

Chr17:43092104

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10595125

rs_2154316944

4 SubmittersRCV001955005 RCV002258332

NM_000059.4(BRCA2):c.4231G>T (p.Ala1411Ser)

SNV
Germline

Chr13:32338586

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387780355

rs_1202062406

2 SubmittersRCV001965990 RCV003156906

NM_007294.4(BRCA1):c.1381T>G (p.Phe461Val)

SNV
Germline

Chr17:43094150

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10599281

rs_62625300

2 SubmittersRCV001985546 RCV003156907

NM_000059.4(BRCA2):c.6485A>C (p.Lys2162Thr)

SNV
Germline

Chr13:32340840

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387789465

rs_11571660

2 SubmittersRCV001985565 RCV003156908

NM_000059.4(BRCA2):c.4454T>A (p.Ile1485Lys)

SNV
Germline

Chr13:32338809

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387781384

rs_1555283790

2 SubmittersRCV002026957 RCV003157069

NM_007294.4(BRCA1):c.2740G>C (p.Glu914Gln)

SNV
Germline

Chr17:43092791

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10596510

rs_80357419

2 SubmittersRCV001913443 RCV003156841

NM_000059.4(BRCA2):c.6305T>G (p.Val2102Gly)

SNV
Germline

Chr13:32340660

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387789038

rs_2137526201

2 SubmittersRCV001952806 RCV003156877

NM_000059.4(BRCA2):c.1458G>C (p.Gln486His)

SNV
Germline

Chr13:32332936

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387764359

rs_61753156

2 SubmittersRCV001983255 RCV003156905

NM_000059.4(BRCA2):c.5402C>G (p.Pro1801Arg)

SNV
Germline

Chr13:32339757

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387785329

rs_1060502429

3 SubmittersRCV001978202 RCV002344177

NM_007294.4(BRCA1):c.3334G>C (p.Glu1112Gln)

SNV
Germline

Chr17:43092197

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10595311

rs_2154327700

3 SubmittersRCV001863313 RCV002324237

NM_000059.4(BRCA2):c.3683A>T (p.Asn1228Ile)

SNV
Germline

Chr13:32338038

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387778014

rs_786202838

3 SubmittersRCV001863470 RCV002458657

NM_000059.4(BRCA2):c.5746C>G (p.His1916Asp)

SNV
Germline

Chr13:32340101

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387786986

rs_2137520497

2 SubmittersRCV001863473 RCV003158997

NM_007294.4(BRCA1):c.2114C>T (p.Ala705Val)

SNV
Germline

Chr17:43093417

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10597771

rs_2154398643

2 SubmittersRCV001895063 RCV003159061

NM_000059.4(BRCA2):c.2283T>A (p.Tyr761Ter)

SNV
Germline

Chr13:32336638

Pathogenic

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Multiple Submitters
No Conflicts

CA387771150

rs_925988904

2 SubmittersRCV001917330 RCV005247298

NM_000059.4(BRCA2):c.3684T>A (p.Asn1228Lys)

SNV
Germline

Chr13:32338039

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387778016

rs_2137498989

2 SubmittersRCV001909599 RCV003156840

NM_000059.4(BRCA2):c.2174A>C (p.Lys725Thr)

SNV
Germline

Chr13:32336529

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387770322

rs_2137483940

2 SubmittersRCV002005094 RCV003156943

NM_000059.4(BRCA2):c.9508G>A (p.Asp3170Asn)

SNV
Germline

Chr13:32396904

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA387762854

rs_2137658723

3 SubmittersRCV002005114 RCV005520644 RCV005648196

NM_007294.4(BRCA1):c.3500A>G (p.Glu1167Gly)

SNV
Germline

Chr17:43092031

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10594974

rs_2154308012

3 SubmittersRCV001977332 RCV002458914

NM_007294.4(BRCA1):c.796G>A (p.Val266Ile)

SNV
Germline

Chr17:43094735

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10600490

rs_2154492345

2 SubmittersRCV002005151 RCV003156944

NM_007294.4(BRCA1):c.2699C>G (p.Thr900Ser)

SNV
Germline

Chr17:43092832

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10596600

rs_2154363860

2 SubmittersRCV001977424 RCV003156945

NM_007294.4(BRCA1):c.3668T>C (p.Leu1223Pro)

SNV
Germline

Chr17:43091863

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10594632

rs_2154295855

2 SubmittersRCV001907829 RCV003159023

NM_000059.4(BRCA2):c.1204G>A (p.Gly402Ser)

SNV
Germline

Chr13:32332682

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387762069

rs_878853556

2 SubmittersRCV001911271 RCV003156807

NM_007294.4(BRCA1):c.1205A>G (p.Glu402Gly)

SNV
Germline

Chr17:43094326

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10599641

rs_1555592216

2 SubmittersRCV001896398 RCV003156808

NM_000059.4(BRCA2):c.5254C>A (p.His1752Asn)

SNV
Germline

Chr13:32339609

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387784710

rs_80358749

3 SubmittersRCV001896407 RCV003156809

NM_000059.4(BRCA2):c.5774A>G (p.Gln1925Arg)

SNV
Germline

Chr13:32340129

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387787116

rs_2137520813

3 SubmittersRCV001896410 RCV003156810

NM_000059.4(BRCA2):c.2995C>G (p.Pro999Ala)

SNV
Germline

Chr13:32337350

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387774637

rs_2137492059

2 SubmittersRCV001912409 RCV003156811

NM_000059.4(BRCA2):c.5028T>A (p.Ser1676Arg)

SNV
Germline

Chr13:32339383

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast and/or ovarian cancer

Criteria Provided
Conflicting Classifications

CA6940842

rs_762458631

4 SubmittersRCV001896432 RCV003156812 RCV003492695

NM_000059.4(BRCA2):c.3320A>G (p.Gln1107Arg)

SNV
Germline

Chr13:32337675

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387776236

rs_1593899174

2 SubmittersRCV003156895 RCV002011841

NM_000059.4(BRCA2):c.4686A>T (p.Gln1562His)

SNV
Germline

Chr13:32339041

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387782840

rs_28897730

2 SubmittersRCV002011916 RCV003156896

NM_000059.4(BRCA2):c.2968A>C (p.Met990Leu)

SNV
Germline

Chr13:32337323

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387774509

rs_876660083

3 SubmittersRCV001973731 RCV003156948

NM_000059.4(BRCA2):c.1631C>G (p.Thr544Ser)

SNV
Germline

Chr13:32333109

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387764934

rs_80358448

2 SubmittersRCV001951617 RCV003156903

NM_000059.4(BRCA2):c.5261A>T (p.Asp1754Val)

SNV
Germline

Chr13:32339616

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA387784725

rs_772772727

4 SubmittersRCV001963335 RCV003156904 RCV004774564

NM_000059.4(BRCA2):c.1018G>A (p.Glu340Lys)

SNV
Germline

Chr13:32332496

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387761114

rs_2137466889

2 SubmittersRCV002021207 RCV003157067

NM_007294.4(BRCA1):c.1907G>T (p.Cys636Phe)

SNV
Germline

Chr17:43093624

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA10598209

rs_398122649

5 SubmittersRCV002047596 RCV002224095 RCV002406925 RCV004552057

NM_007294.4(BRCA1):c.3341A>G (p.Glu1114Gly)

SNV
Germline

Chr17:43092190

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10595294

rs_2154327006

2 SubmittersRCV002039846 RCV003158994

NM_000059.4(BRCA2):c.5697T>A (p.Asp1899Glu)

SNV
Germline

Chr13:32340052

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387786704

rs_786203565

2 SubmittersRCV001917177 RCV003159056

NM_007294.4(BRCA1):c.3249G>A (p.Met1083Ile)

SNV
Germline

Chr17:43092282

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10595487

rs_1367761716

4 SubmittersRCV001918561 RCV002324314

NM_007294.4(BRCA1):c.2233G>T (p.Glu745Ter)

SNV
Germline

Chr17:43093298

Pathogenic

Hereditary breast ovarian cancer syndrome

Criteria Provided
Single Submitter

CA10597533

rs_2154389241

1 SubmittersRCV001955170

NM_000059.4(BRCA2):c.6454T>C (p.Ser2152Pro)

SNV
Germline

Chr13:32340809

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387789337

rs_1555284705

2 SubmittersRCV001954174 RCV003156909

NM_000059.4(BRCA2):c.3670G>A (p.Gly1224Ser)

SNV
Germline

Chr13:32338025

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387777990

rs_2137498845

3 SubmittersRCV001968383 RCV003156910

NM_007294.4(BRCA1):c.4084G>C (p.Asp1362His)

SNV
Germline

Chr17:43091447

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10593791

rs_775463394

3 SubmittersRCV001961026 RCV003478909 RCV003156913

NM_000059.4(BRCA2):c.3001T>G (p.Ser1001Ala)

SNV
Germline

Chr13:32337356

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387774676

rs_2137492111

3 SubmittersRCV002009966 RCV003156986

NM_000059.4(BRCA2):c.516+4A>G

SNV
Germline

Chr13:32326286

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA2573149269

rs_2137450725

3 SubmittersRCV005232758 RCV002009968 RCV002335026

NM_000059.4(BRCA2):c.8344A>G (p.Ser2782Gly)

SNV
Germline

Chr13:32370414

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA387752363

rs_2137596450

3 SubmittersRCV002010043 RCV002407256 RCV004571923

NM_007294.4(BRCA1):c.3502A>T (p.Asn1168Tyr)

SNV
Germline

Chr17:43092029

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10594968

rs_2154307903

3 SubmittersRCV001890677 RCV002458719

NM_000059.4(BRCA2):c.5330A>C (p.Lys1777Thr)

SNV
Germline

Chr13:32339685

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387784929

rs_2137516417

2 SubmittersRCV001892452 RCV003159067

NM_000059.4(BRCA2):c.4009G>T (p.Asp1337Tyr)

SNV
Germline

Chr13:32338364

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387779012

rs_2137502029

2 SubmittersRCV001892475 RCV003159068

NM_007294.4(BRCA1):c.1354G>A (p.Val452Ile)

SNV
Germline

Chr17:43094177

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10599343

rs_2154455068

2 SubmittersRCV001928147 RCV003156845

NM_000059.4(BRCA2):c.1012G>C (p.Ala338Pro)

SNV
Germline

Chr13:32332490

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387761094

rs_80358396

2 SubmittersRCV001920316 RCV003156846

NM_007294.4(BRCA1):c.2135G>A (p.Cys712Tyr)

SNV
Germline

Chr17:43093396

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10597735

rs_1555590395

3 SubmittersRCV001954421 RCV003156912

NM_000059.4(BRCA2):c.5477C>T (p.Ala1826Val)

SNV
Germline

Chr13:32339832

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387785705

rs_2137517885

2 SubmittersRCV001866728 RCV003158998

NM_000059.4(BRCA2):c.1343G>T (p.Arg448Leu)

SNV
Germline

Chr13:32332821

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387762742

rs_80358423

2 SubmittersRCV001890382 RCV003159065

NM_000059.4(BRCA2):c.1178G>A (p.Cys393Tyr)

SNV
Germline

Chr13:32332656

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA6940497

rs_766690741

3 SubmittersRCV001922280 RCV003159066

NM_000059.4(BRCA2):c.1852G>T (p.Ala618Ser)

SNV
Germline

Chr13:32333330

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387766393

rs_80358475

2 SubmittersRCV001916406 RCV003156843

NM_000059.4(BRCA2):c.5026A>G (p.Ser1676Gly)

SNV
Germline

Chr13:32339381

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA387783973

rs_786203719

4 SubmittersRCV001928040 RCV002334869 RCV004010859

NM_007294.4(BRCA1):c.1340T>C (p.Val447Ala)

SNV
Germline

Chr17:43094191

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10599369

rs_2154457435

2 SubmittersRCV001940079 RCV003156844

NM_000059.4(BRCA2):c.4196G>T (p.Cys1399Phe)

SNV
Germline

Chr13:32338551

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA6940759

rs_764939265

3 SubmittersRCV001962823 RCV003156878

NM_000059.4(BRCA2):c.1421T>G (p.Leu474Arg)

SNV
Germline

Chr13:32332899

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387764233

rs_431825281

2 SubmittersRCV001934006 RCV003156879

NM_000059.4(BRCA2):c.6319C>G (p.Pro2107Ala)

SNV
Germline

Chr13:32340674

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387789061

rs_1593908231

3 SubmittersRCV001997991 RCV003156919

NM_007294.4(BRCA1):c.1180G>A (p.Gly394Ser)

SNV
Germline

Chr17:43094351

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10599691

rs_771837028

2 SubmittersRCV001963498 RCV003156920

NM_007294.4(BRCA1):c.1664A>G (p.Asn555Ser)

SNV
Germline

Chr17:43093867

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10598706

rs_2154431398

3 SubmittersRCV001983479 RCV002398066

NM_000059.4(BRCA2):c.4184C>T (p.Ala1395Val)

SNV
Germline

Chr13:32338539

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified

Criteria Provided
Conflicting Classifications

CA387780139

rs_1782230124

4 SubmittersRCV002024933 RCV003157075 RCV003323973

NM_000059.4(BRCA2):c.1917G>T (p.Leu639Phe)

SNV
Germline

Chr13:32336272

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387768236

rs_779226644

2 SubmittersRCV001980968 RCV003156988

NM_007294.4(BRCA1):c.1892T>G (p.Leu631Arg)

SNV
Germline

Chr17:43093639

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10598235

rs_1386991114

2 SubmittersRCV001980978 RCV003156989

NM_007294.4(BRCA1):c.1307C>T (p.Pro436Leu)

SNV
Germline

Chr17:43094224

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified

Criteria Provided
Conflicting Classifications

CA10599436

rs_2154459839

3 SubmittersRCV001981108 RCV003156990 RCV003490998

NM_000059.4(BRCA2):c.2624T>C (p.Val875Ala)

SNV
Germline

Chr13:32336979

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387773207

rs_2137488298

3 SubmittersRCV001981158 RCV002425387

NM_007294.4(BRCA1):c.3240G>T (p.Leu1080Phe)

SNV
Germline

Chr17:43092291

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10595502

rs_2154335204

2 SubmittersRCV001981159 RCV003156991

NM_000059.4(BRCA2):c.3347C>A (p.Thr1116Asn)

SNV
Germline

Chr13:32337702

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA387776329

rs_2072478227

5 SubmittersRCV001981190 RCV003156992 RCV003478919 RCV004801123

NM_000059.4(BRCA2):c.5506A>C (p.Asn1836His)

SNV
Germline

Chr13:32339861

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387785817

rs_2137518120

3 SubmittersRCV002024812 RCV002346315

NM_000059.4(BRCA2):c.3580G>A (p.Gly1194Ser)

SNV
Germline

Chr13:32337935

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387777383

rs_2137498023

3 SubmittersRCV002024823 RCV002454311

NM_000059.4(BRCA2):c.67+14T>C

SNV
Germline

Chr13:32316541

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA2573149264

rs_2138698697

2 SubmittersRCV002052294 RCV003530213

NM_000059.4(BRCA2):c.68-14T>A

SNV
Germline

Chr13:32319063

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA2573149272

rs_2138703427

2 SubmittersRCV002052296 RCV003530214

NM_000059.4(BRCA2):c.5634C>A (p.Asn1878Lys)

SNV
Germline

Chr13:32339989

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA6940892

rs_80358784

3 SubmittersRCV002187581 RCV002346367

NM_007294.4(BRCA1):c.548-14G>A

SNV
Germline

Chr17:43097303

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Fanconi anemia, complementation group S
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA626077256

rs_1451322222

3 SubmittersRCV002140523 RCV005397330 RCV005251317

NM_000059.4(BRCA2):c.4214A>G (p.Asn1405Ser)

SNV
Germline

Chr13:32338569

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387780274

rs_2137504065

3 SubmittersRCV002071573 RCV002331771

NM_000059.4(BRCA2):c.6841+10C>A

SNV
Germline

Chr13:32341206

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2573149199

rs_1057522119

2 SubmittersRCV002116829 RCV003478936

NM_000059.4(BRCA2):c.4602T>A (p.Ile1534=)

SNV
Germline

Chr13:32338957

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA483438064

rs_2137508164

3 SubmittersRCV002126325 RCV003478947 RCV006553079

NM_007294.4(BRCA1):c.1720C>T (p.Leu574Phe)

SNV
Germline

Chr17:43093811

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10598589

rs_1323998441

3 SubmittersRCV002154485 RCV003289465 RCV004729099

NM_000051.4(ATM):c.5212A>T (p.Lys1738Ter)

SNV
Germline

Chr11:108301682

Pathogenic

Hereditary breast ovarian cancer syndrome

Criteria Provided
Single Submitter

CA382542254

rs_1064793957

1 SubmittersRCV002226202

NM_003579.4(RAD54L):c.95C>G (p.Pro32Arg)

SNV
Germline

Chr1:46250004

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
not specified

Criteria Provided
Conflicting Classifications

CA834144

rs_112896925

2 SubmittersRCV002226224 RCV004047234

NM_000059.4(BRCA2):c.824A>C (p.Lys275Thr)

SNV
Germline

Chr13:32332302

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387760435

rs_2137465057

2 SubmittersRCV002226238 RCV003157099

NM_000059.4(BRCA2):c.1705C>T (p.Gln569Ter)

SNV
Germline

Chr13:32333183

Pathogenic

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Multiple Submitters
No Conflicts

CA387765259

rs_397507274

5 SubmittersRCV002226240 RCV003493925 RCV005861281

NM_000059.4(BRCA2):c.3950C>G (p.Thr1317Ser)

SNV
Germline

Chr13:32338305

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387778891

rs_1593901002

2 SubmittersRCV002226242 RCV003157100

NM_003579.4(RAD54L):c.2026C>T (p.His676Tyr)

SNV
Germline

Chr1:46277973

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
not specified

Criteria Provided
Conflicting Classifications

CA834785

rs_751010909

2 SubmittersRCV002226250 RCV004047239

NM_024675.4(PALB2):c.2586+30G>A

SNV
Germline

Chr16:23629174

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
not specified

Criteria Provided
Conflicting Classifications

CA7963533

rs_769118926

2 SubmittersRCV002226282 RCV004596528

NM_007294.4(BRCA1):c.1982G>A (p.Arg661Lys)

SNV
Germline

Chr17:43093549

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10598053

rs_2053848136

2 SubmittersRCV002226313 RCV003157101

NM_032043.3(BRIP1):c.1559G>C (p.Ser520Thr)

SNV
Germline

Chr17:61784339

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA8690715

rs_757629526

3 SubmittersRCV002226323 RCV005308747 RCV005225570

NM_001018115.3(FANCD2):c.1656+3A>G

SNV
Germline

Chr3:10052500

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Fanconi anemia

Criteria Provided
Conflicting Classifications

CA1345036738

rs_2087247418

2 SubmittersRCV002226354 RCV005095782

NM_001018115.3(FANCD2):c.1764C>G (p.Asp588Glu)

SNV
Germline

Chr3:10060401

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Fanconi anemia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2249774

rs_764832852

3 SubmittersRCV002226357 RCV005095783 RCV005824266

NM_001018115.3(FANCD2):c.3963+8C>T

SNV
Germline

Chr3:10094371

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Fanconi anemia

Criteria Provided
Conflicting Classifications

CA2250577

rs_201623111

2 SubmittersRCV002226369 RCV003089211

NM_002485.5(NBN):c.2093A>G (p.Lys698Arg)

SNV
Germline

Chr8:89943344

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA371675783

rs_2130756107

2 SubmittersRCV002226390 RCV002416534

NM_000051.4(ATM):c.2638+2T>G

SNV
Germline

Chr11:108267344

Pathogenic/Likely pathogenic

Hereditary breast ovarian cancer syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382544384

rs_587779826

2 SubmittersRCV002226402 RCV004047245

NM_007294.4(BRCA1):c.3637G>A (p.Glu1213Lys)

SNV
Germline

Chr17:43091894

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10594696

rs_1135401864

2 SubmittersRCV002307847 RCV003157102

NM_000059.4(BRCA2):c.5483A>T (p.Lys1828Ile)

SNV
Germline

Chr13:32339838

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387785729

rs_879255459

3 SubmittersRCV002247030 RCV003157106 RCV003530218

NM_000059.4(BRCA2):c.3253C>T (p.His1085Tyr)

SNV
Germline

Chr13:32337608

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387775988

rs_2137494760

4 SubmittersRCV002250804 RCV002325714 RCV006470298

NM_000059.4(BRCA2):c.5165G>C (p.Ser1722Thr)

SNV
Germline

Chr13:32339520

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387784252

rs_773707172

4 SubmittersRCV002250807 RCV002337415 RCV003530219

NM_000465.4(BARD1):c.216-3A>T

SNV
Germline

Chr2:214792448

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
not specified

Criteria Provided
Conflicting Classifications

CA1042189366

rs_1329481396

2 SubmittersRCV002254852 RCV003320877

NM_032043.3(BRIP1):c.2383G>T (p.Glu795Ter)

SNV
Germline

Chr17:61716060

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Fanconi anemia complementation group J
Familial cancer of breast
Hereditary breast ovarian cancer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA400479849

rs_2144384208

5 SubmittersRCV002257010 RCV003336512 RCV003329439 RCV003774762 RCV004017912

NM_000059.4(BRCA2):c.1928T>G (p.Val643Gly)

SNV
Germline

Chr13:32336283

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA247500361

rs_922597695

4 SubmittersRCV002257058 RCV003774764

NM_000059.4(BRCA2):c.2798C>T (p.Thr933Ile)

SNV
Germline

Chr13:32337153

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA387773742

rs_276174830

5 SubmittersRCV002255841 RCV002300658 RCV004005552

NM_007294.4(BRCA1):c.3119G>T (p.Ser1040Ile)

SNV
Germline

Chr17:43092412

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10595746

rs_4986852

4 SubmittersRCV002258761 RCV002304241

NM_007294.4(BRCA1):c.4676-85G>A

SNV
Germline

Chr17:43071323

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA772170715

rs_1189450557

2 SubmittersRCV002258767 RCV003645246

NM_007294.4(BRCA1):c.671-11T>G

SNV
Germline

Chr17:43094871

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA2573154066

rs_1597880676

4 SubmittersRCV002258771 RCV004005567 RCV003774799

NM_000059.4(BRCA2):c.6340C>A (p.Pro2114Thr)

SNV
Germline

Chr13:32340695

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387789102

rs_2072552879

3 SubmittersRCV002273700 RCV003157116 RCV003530224

NM_007294.4(BRCA1):c.3316C>G (p.Pro1106Ala)

SNV
Germline

Chr17:43092215

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10595353

rs_45599040

4 SubmittersRCV002281265 RCV002454611 RCV005096023

NM_000059.4(BRCA2):c.6922A>T (p.Lys2308Ter)

SNV
Germline

Chr13:32344638

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Gastric cancer

Criteria Provided
Conflicting Classifications

CA387792928

rs_398122570

3 SubmittersRCV002282924 RCV002363745 RCV003164418

NM_000051.4(ATM):c.4236+2T>C

SNV
Germline

Chr11:108289105

Pathogenic/Likely pathogenic

Familial cancer of breast
Hereditary breast ovarian cancer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA382530767

rs_1229926683

2 SubmittersRCV002289158 RCV005251320

NM_007294.4(BRCA1):c.827C>T (p.Thr276Ile)

SNV
Germline

Chr17:43094704

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10600430

rs_80357436

5 SubmittersRCV003157122 RCV003607441 RCV005096065 RCV003164434

NM_000059.4(BRCA2):c.1117C>A (p.Gln373Lys)

SNV
Germline

Chr13:32332595

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387761640

rs_397507572

3 SubmittersRCV002290108 RCV003157123 RCV006558768

NM_000059.4(BRCA2):c.830A>G (p.Asn277Ser)

SNV
Germline

Chr13:32332308

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387760456

rs_1419882645

4 SubmittersRCV002290112 RCV003097785 RCV003157124

NM_024675.4(PALB2):c.47A>C (p.Lys16Thr)

SNV
Germline

Chr16:23641111

Likely pathogenic

Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA395141005

rs_1064795514

3 SubmittersRCV003156021 RCV004697206 RCV005692479

NM_024675.4(PALB2):c.454A>T (p.Lys152Ter)

SNV
Germline

Chr16:23636092

Pathogenic

Hereditary breast ovarian cancer syndrome
Familial cancer of breast

Criteria Provided
Single Submitter

CA395137206

rs_2506511810

2 SubmittersRCV003156022 RCV003454093

NM_024675.4(PALB2):c.3351-2A>T

SNV
Germline

Chr16:23603671

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA395138435

rs_1060502764

3 SubmittersRCV002325724 RCV003156024 RCV004809809

NM_000059.4(BRCA2):c.5813G>T (p.Gly1938Val)

SNV
Germline

Chr13:32340168

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387787261

rs_41293499

2 SubmittersRCV002304319 RCV003157131

NM_000059.4(BRCA2):c.4613C>G (p.Ser1538Cys)

SNV
Germline

Chr13:32338968

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387782022

rs_754643404

2 SubmittersRCV002297204 RCV003157132

NM_000059.4(BRCA2):c.2164A>G (p.Lys722Glu)

SNV
Germline

Chr13:32336519

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387770260

rs_2137483851

2 SubmittersRCV002303174 RCV003157139

NM_000059.4(BRCA2):c.5935A>G (p.Ser1979Gly)

SNV
Germline

Chr13:32340290

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387787559

rs_2137522453

2 SubmittersRCV002295867 RCV003157140

NM_007294.4(BRCA1):c.2206G>C (p.Glu736Gln)

SNV
Germline

Chr17:43093325

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10597586

rs_2154393441

2 SubmittersRCV002304802 RCV003157145

NM_007294.4(BRCA1):c.4016A>T (p.Glu1339Val)

SNV
Germline

Chr17:43091515

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10593927

rs_886039313

2 SubmittersRCV002297889 RCV003157146

NM_000059.4(BRCA2):c.1193T>A (p.Leu398Gln)

SNV
Germline

Chr13:32332671

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387762032

rs_2548519786

2 SubmittersRCV002296522 RCV003157147

NM_000059.4(BRCA2):c.5422A>G (p.Ile1808Val)

SNV
Germline

Chr13:32339777

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
not specified
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387785430

rs_2137517397

5 SubmittersRCV002303746 RCV003331341 RCV003157161

NM_000059.4(BRCA2):c.944G>T (p.Cys315Phe)

SNV
Germline

Chr13:32332422

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387760823

rs_2072400977

3 SubmittersRCV002303754 RCV003157162

NM_007294.4(BRCA1):c.2547A>C (p.Glu849Asp)

SNV
Germline

Chr17:43092984

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10596900

rs_2154371845

2 SubmittersRCV002305036 RCV003157163

NM_000059.4(BRCA2):c.3005A>G (p.Asn1002Ser)

SNV
Germline

Chr13:32337360

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387774699

rs_730881518

2 SubmittersRCV002304024 RCV003157164

NM_007294.4(BRCA1):c.3577T>G (p.Phe1193Val)

SNV
Germline

Chr17:43091954

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10594808

rs_2154301670

2 SubmittersRCV002294944 RCV003157177

NM_000059.4(BRCA2):c.6026A>C (p.Gln2009Pro)

SNV
Germline

Chr13:32340381

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387787771

rs_1285547765

2 SubmittersRCV002294947 RCV003157178

NM_000059.4(BRCA2):c.1108G>A (p.Val370Ile)

SNV
Germline

Chr13:32332586

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387761590

rs_2137467717

2 SubmittersRCV002300361 RCV003157179

NM_007294.4(BRCA1):c.1000C>G (p.Pro334Ala)

SNV
Germline

Chr17:43094531

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10600061

rs_1555592700

2 SubmittersRCV002300375 RCV003157180

NM_000059.4(BRCA2):c.3055C>A (p.Leu1019Ile)

SNV
Germline

Chr13:32337410

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387775084

rs_55638633

2 SubmittersRCV002300472 RCV003157181

NM_000059.4(BRCA2):c.1100A>C (p.Asp367Ala)

SNV
Germline

Chr13:32332578

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387761552

rs_2137467642

2 SubmittersRCV002305305 RCV003157182

NM_007294.4(BRCA1):c.1273T>C (p.Ser425Pro)

SNV
Germline

Chr17:43094258

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
not specified
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10599510

rs_1328261486

4 SubmittersRCV002305307 RCV003491079 RCV003157183

NM_000059.4(BRCA2):c.4675T>G (p.Phe1559Val)

SNV
Germline

Chr13:32339030

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387782798

rs_2137508937

2 SubmittersRCV002297012 RCV003157129

NM_000059.4(BRCA2):c.3118A>G (p.Thr1040Ala)

SNV
Germline

Chr13:32337473

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387775473

rs_2137493390

3 SubmittersRCV002297145 RCV003157130

NM_000059.4(BRCA2):c.4514C>G (p.Thr1505Ser)

SNV
Germline

Chr13:32338869

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387781634

rs_1566230463

2 SubmittersRCV002297478 RCV003157144

NM_000059.4(BRCA2):c.9741G>T (p.Gln3247His)

SNV
Germline

Chr13:32398254

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387765593

rs_1555289942

2 SubmittersRCV002304774 RCV005782306

NM_000059.4(BRCA2):c.6317T>G (p.Leu2106Arg)

SNV
Germline

Chr13:32340672

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387789059

rs_56172926

2 SubmittersRCV002302049 RCV003157159

NM_000059.4(BRCA2):c.5585T>C (p.Val1862Ala)

SNV
Germline

Chr13:32339940

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387786028

rs_1593905868

2 SubmittersRCV002302057 RCV003157160

NM_007294.4(BRCA1):c.2426A>C (p.Glu809Ala)

SNV
Germline

Chr17:43093105

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA10597159

rs_397507201

4 SubmittersRCV002303705 RCV002443303 RCV006634000

NM_007294.4(BRCA1):c.4022T>C (p.Val1341Ala)

SNV
Germline

Chr17:43091509

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10593914

rs_2154269000

3 SubmittersRCV002305246 RCV003157173

NM_000059.4(BRCA2):c.2301C>G (p.Ser767Arg)

SNV
Germline

Chr13:32336656

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387771304

rs_2072454710

3 SubmittersRCV002300135 RCV002427771

NM_000059.4(BRCA2):c.5066C>T (p.Ala1689Val)

SNV
Germline

Chr13:32339421

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387784053

rs_2548529950

2 SubmittersRCV002294755 RCV003157174

NM_000059.4(BRCA2):c.6492G>C (p.Gln2164His)

SNV
Germline

Chr13:32340847

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387789504

rs_2137528107

2 SubmittersRCV002294776 RCV003157175

NM_000059.4(BRCA2):c.5901G>C (p.Lys1967Asn)

SNV
Germline

Chr13:32340256

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387787495

rs_556893517

3 SubmittersRCV002294852 RCV003157176

NM_000059.4(BRCA2):c.805A>C (p.Thr269Pro)

SNV
Germline

Chr13:32332283

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387760371

rs_1217128211

2 SubmittersRCV002304472 RCV003157136

NM_000059.4(BRCA2):c.5198C>G (p.Ser1733Cys)

SNV
Germline

Chr13:32339553

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387784588

rs_55639415

2 SubmittersRCV002299473 RCV003157137

NM_000059.4(BRCA2):c.4428C>A (p.Asp1476Glu)

SNV
Germline

Chr13:32338783

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387781278

rs_2137506249

2 SubmittersRCV002301249 RCV003157138

NM_000059.4(BRCA2):c.3416A>T (p.Lys1139Met)

SNV
Germline

Chr13:32337771

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387776499

rs_2548525900

2 SubmittersRCV002299952 RCV003157151

NM_007294.4(BRCA1):c.1447A>G (p.Ile483Val)

SNV
Germline

Chr17:43094084

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10599146

rs_2552208778

2 SubmittersRCV002301628 RCV003157152

NM_000059.4(BRCA2):c.3755C>T (p.Ser1252Phe)

SNV
Germline

Chr13:32338110

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387778201

rs_1361496246

2 SubmittersRCV002301648 RCV003157153

NM_007294.4(BRCA1):c.1034A>G (p.Asp345Gly)

SNV
Germline

Chr17:43094497

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10599991

rs_2154479412

3 SubmittersRCV002301733 RCV003157154

NM_000059.4(BRCA2):c.6772G>C (p.Glu2258Gln)

SNV
Germline

Chr13:32341127

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387791223

rs_730881549

2 SubmittersRCV002301770 RCV003157155

NM_007294.4(BRCA1):c.1088A>C (p.Asn363Thr)

SNV
Germline

Chr17:43094443

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10599883

rs_2154476858

2 SubmittersRCV002296726 RCV003157156

NM_000059.4(BRCA2):c.4130A>G (p.Asn1377Ser)

SNV
Germline

Chr13:32338485

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA6940753

rs_749624669

5 SubmittersRCV002296728 RCV003157157 RCV004005604

NM_007294.4(BRCA1):c.3413G>A (p.Gly1138Glu)

SNV
Germline

Chr17:43092118

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10595155

rs_879251628

3 SubmittersRCV002296773 RCV003157158 RCV005648217

NM_000059.4(BRCA2):c.3079A>G (p.Ser1027Gly)

SNV
Germline

Chr13:32337434

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387775206

rs_2137492982

3 SubmittersRCV002305155 RCV002319753

NM_007294.4(BRCA1):c.3218G>T (p.Gly1073Val)

SNV
Germline

Chr17:43092313

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10595543

rs_757632961

2 SubmittersRCV002305175 RCV003157172

NM_000059.4(BRCA2):c.4163C>G (p.Thr1388Ser)

SNV
Germline

Chr13:32338518

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387780049

rs_28897725

2 SubmittersRCV002295179 RCV003157194

NM_000059.4(BRCA2):c.4151T>C (p.Leu1384Ser)

SNV
Germline

Chr13:32338506

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387779996

rs_397507325

3 SubmittersRCV002295187 RCV003157195

NM_007294.4(BRCA1):c.1311T>A (p.His437Gln)

SNV
Germline

Chr17:43094220

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10599431

rs_2154459567

2 SubmittersRCV002295249 RCV003157196

NM_000059.4(BRCA2):c.1949A>C (p.Asn650Thr)

SNV
Germline

Chr13:32336304

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387768418

rs_773619645

2 SubmittersRCV002302879 RCV003157128

NM_000059.4(BRCA2):c.6764C>T (p.Thr2255Ile)

SNV
Germline

Chr13:32341119

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Hereditary cancer
not specified
Familial prostate cancer

Criteria Provided
Conflicting Classifications

CA387791195

rs_2137530514

6 SubmittersRCV002303005 RCV002363749 RCV005232945 RCV005232944 RCV005356087

NM_007294.4(BRCA1):c.1767C>G (p.Ser589Arg)

SNV
Germline

Chr17:43093764

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10598491

rs_587783039

2 SubmittersRCV002299270 RCV003157134

NM_007294.4(BRCA1):c.3909G>T (p.Leu1303Phe)

SNV
Germline

Chr17:43091622

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10594145

rs_1597860507

2 SubmittersRCV002299307 RCV003157135

NM_000059.4(BRCA2):c.2357C>T (p.Ser786Phe)

SNV
Germline

Chr13:32336712

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387771690

rs_80358501

2 SubmittersRCV002304711 RCV003157141

NM_000059.4(BRCA2):c.6466T>G (p.Ser2156Ala)

SNV
Germline

Chr13:32340821

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387789384

rs_2137527843

2 SubmittersRCV002295980 RCV003157142

NM_007294.4(BRCA1):c.1988G>A (p.Ser663Asn)

SNV
Germline

Chr17:43093543

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10598039

rs_2154405902

3 SubmittersRCV002296018 RCV003157143

NM_000059.4(BRCA2):c.4561C>G (p.Leu1521Val)

SNV
Germline

Chr13:32338916

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA387781828

rs_370723514

3 SubmittersRCV002304854 RCV003157148 RCV004005602

NM_007294.4(BRCA1):c.3758C>T (p.Ser1253Phe)

SNV
Germline

Chr17:43091773

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10594457

rs_397509100

3 SubmittersRCV002299714 RCV002363756

NM_000059.4(BRCA2):c.850G>A (p.Gly284Arg)

SNV
Germline

Chr13:32332328

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387760530

rs_1437563380

2 SubmittersRCV002299718 RCV003157149

NM_000059.4(BRCA2):c.3721T>G (p.Phe1241Val)

SNV
Germline

Chr13:32338076

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387778087

rs_2137499348

2 SubmittersRCV002299857 RCV003157150

NM_000059.4(BRCA2):c.6019A>G (p.Thr2007Ala)

SNV
Germline

Chr13:32340374

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387787742

rs_2548532388

2 SubmittersRCV002304105 RCV003157165

NM_000059.4(BRCA2):c.868G>A (p.Val290Ile)

SNV
Germline

Chr13:32332346

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387760590

rs_1555281616

3 SubmittersRCV002304161 RCV003157166

NM_007294.4(BRCA1):c.2066G>A (p.Ser689Asn)

SNV
Germline

Chr17:43093465

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA057736

rs_779748579

3 SubmittersRCV002304200 RCV002416567

NM_007294.4(BRCA1):c.2164G>T (p.Val722Phe)

SNV
Germline

Chr17:43093367

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10597674

rs_2154395949

2 SubmittersRCV002297911 RCV003157167

NM_000059.4(BRCA2):c.2833A>G (p.Lys945Glu)

SNV
Germline

Chr13:32337188

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387773849

rs_2072466023

2 SubmittersRCV002297936 RCV003157168

NM_000059.4(BRCA2):c.3224G>C (p.Ser1075Thr)

SNV
Germline

Chr13:32337579

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387775910

rs_2137494493

2 SubmittersRCV002305104 RCV003157169

NM_000059.4(BRCA2):c.1279G>T (p.Asp427Tyr)

SNV
Germline

Chr13:32332757

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387762424

rs_147797288

2 SubmittersRCV002298043 RCV003157170

NM_000059.4(BRCA2):c.5757G>C (p.Lys1919Asn)

SNV
Germline

Chr13:32340112

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387787051

rs_1566233164

2 SubmittersRCV002305129 RCV003157171

NM_000059.4(BRCA2):c.283G>C (p.Val95Leu)

SNV
Germline

Chr13:32319292

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA387754610

rs_1566216059

3 SubmittersRCV002305348 RCV002434634 RCV006258787

NM_007294.4(BRCA1):c.1942G>A (p.Glu648Lys)

SNV
Germline

Chr17:43093589

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10598140

rs_886039984

3 SubmittersRCV002305360 RCV003157184

NM_000059.4(BRCA2):c.4013G>T (p.Gly1338Val)

SNV
Germline

Chr13:32338368

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA387779025

rs_2137502060

4 SubmittersRCV002294964 RCV003157185 RCV003478962

NM_000059.4(BRCA2):c.1789G>C (p.Glu597Gln)

SNV
Germline

Chr13:32333267

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA387765760

rs_80358461

3 SubmittersRCV002294995 RCV003157186 RCV004005608

NM_007294.4(BRCA1):c.741C>A (p.Asn247Lys)

SNV
Germline

Chr17:43094790

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10600601

rs_1597880263

3 SubmittersRCV002294996 RCV003157187

NM_007294.4(BRCA1):c.3135T>A (p.Asn1045Lys)

SNV
Germline

Chr17:43092396

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10595713

rs_2053637366

3 SubmittersRCV002295057 RCV003157188

NM_007294.4(BRCA1):c.2698A>T (p.Thr900Ser)

SNV
Germline

Chr17:43092833

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10596602

rs_2552184882

2 SubmittersRCV002302210 RCV003157189

NM_007294.4(BRCA1):c.2479G>A (p.Glu827Lys)

SNV
Germline

Chr17:43093052

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10597046

rs_1597869731

2 SubmittersRCV002302284 RCV003157190

NM_000059.4(BRCA2):c.1475C>G (p.Ser492Cys)

SNV
Germline

Chr13:32332953

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387764409

rs_2137471880

2 SubmittersRCV002302286 RCV003157191

NM_000059.4(BRCA2):c.5713C>T (p.His1905Tyr)

SNV
Germline

Chr13:32340068

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387786792

rs_1593906278

3 SubmittersRCV002295073 RCV003157192

NM_000059.4(BRCA2):c.4375A>T (p.Asn1459Tyr)

SNV
Germline

Chr13:32338730

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387781023

rs_2072502681

3 SubmittersRCV002302325 RCV002332974

NM_000059.4(BRCA2):c.2020G>C (p.Glu674Gln)

SNV
Germline

Chr13:32336375

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387768822

rs_879255439

2 SubmittersRCV002295127 RCV003157193

NM_000059.4(BRCA2):c.2361A>C (p.Arg787Ser)

SNV
Germline

Chr13:32336716

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387771706

rs_2137485700

4 SubmittersRCV002302609 RCV002443312 RCV006558906

NM_000059.4(BRCA2):c.1703C>G (p.Thr568Arg)

SNV
Germline

Chr13:32333181

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387765252

rs_2072420088

3 SubmittersRCV002306132 RCV003157198 RCV005096123

NM_007294.4(BRCA1):c.3072C>A (p.Ser1024Arg)

SNV
Germline

Chr17:43092459

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA058135

rs_397509033

3 SubmittersRCV002319785 RCV003099168

NM_000059.4(BRCA2):c.3083A>C (p.Lys1028Thr)

SNV
Germline

Chr13:32337438

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387775229

rs_730881519

3 SubmittersRCV002319899 RCV005058263

NM_007294.4(BRCA1):c.3242A>C (p.Asn1081Thr)

SNV
Germline

Chr17:43092289

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10595499

rs_753440254

3 SubmittersRCV002324798 RCV005096206

NM_000059.4(BRCA2):c.1139G>C (p.Ser380Thr)

SNV
Germline

Chr13:32332617

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA6940492

rs_780798665

3 SubmittersRCV002454807 RCV003775603

NM_007294.4(BRCA1):c.3378A>T (p.Pro1126=)

SNV
Germline

Chr17:43092153

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA500232577

rs_1057521325

2 SubmittersRCV002451791 RCV005096251

NM_000059.4(BRCA2):c.3538A>G (p.Lys1180Glu)

SNV
Germline

Chr13:32337893

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387777148

rs_2137497630

3 SubmittersRCV002459454 RCV003645256

NM_000059.4(BRCA2):c.3887A>G (p.Asn1296Ser)

SNV
Germline

Chr13:32338242

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA387778758

rs_2548527130

5 SubmittersRCV002366334 RCV003403789 RCV003645263 RCV004005646

NM_000059.4(BRCA2):c.3890A>G (p.Asn1297Ser)

SNV
Germline

Chr13:32338245

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387778766

rs_2137500985

3 SubmittersRCV002357402 RCV006616707

NM_000059.4(BRCA2):c.4081C>T (p.Gln1361Ter)

SNV
Germline

Chr13:32338436

Pathogenic

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Multiple Submitters
No Conflicts

CA247506459

rs_587780652

3 SubmittersRCV002323128 RCV003645267 RCV005421259

NM_007294.4(BRCA1):c.4084G>T (p.Asp1362Tyr)

SNV
Germline

Chr17:43091447

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10593790

rs_775463394

3 SubmittersRCV002323145 RCV003645268

NM_000059.4(BRCA2):c.4099A>T (p.Lys1367Ter)

SNV
Germline

Chr13:32338454

Pathogenic

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA387779247

rs_2137502904

2 SubmittersRCV002323285 RCV003102520

NM_000059.4(BRCA2):c.4247A>T (p.Gln1416Leu)

SNV
Germline

Chr13:32338602

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387780420

rs_2072499770

3 SubmittersRCV002329812 RCV006616727

NM_007294.4(BRCA1):c.3185G>A (p.Gly1062Asp)

SNV
Germline

Chr17:43092346

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10595616

rs_397507211

3 SubmittersRCV002322783 RCV005096188

NM_007294.4(BRCA1):c.3188C>T (p.Ser1063Phe)

SNV
Germline

Chr17:43092343

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10595609

rs_2154337883

3 SubmittersRCV002322810 RCV003102325

NM_007294.4(BRCA1):c.3324A>G (p.Ile1108Met)

SNV
Germline

Chr17:43092207

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10595335

rs_2154328905

3 SubmittersRCV002326408 RCV003645253

NM_007294.4(BRCA1):c.3346G>A (p.Val1116Ile)

SNV
Germline

Chr17:43092185

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10595283

rs_55909400

3 SubmittersRCV002326639 RCV003645254

NM_000059.4(BRCA2):c.3511C>T (p.Pro1171Ser)

SNV
Germline

Chr13:32337866

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387777005

rs_2137497389

3 SubmittersRCV002459226 RCV003645255

NM_007294.4(BRCA1):c.3670C>T (p.Pro1224Ser)

SNV
Germline

Chr17:43091861

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10594628

rs_2154295717

3 SubmittersRCV002452653 RCV003645259

NM_007294.4(BRCA1):c.3683A>G (p.His1228Arg)

SNV
Germline

Chr17:43091848

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10594599

rs_2154294903

3 SubmittersRCV002346702 RCV003645260

NM_007294.4(BRCA1):c.3860A>C (p.Glu1287Ala)

SNV
Germline

Chr17:43091671

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10594242

rs_2053510326

3 SubmittersRCV002366233 RCV003094407

NM_007294.4(BRCA1):c.1162A>G (p.Arg388Gly)

SNV
Germline

Chr17:43094369

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10599730

rs_111312760

3 SubmittersRCV002359485 RCV003645266

NM_000059.4(BRCA2):c.4022C>G (p.Ser1341Ter)

SNV
Germline

Chr13:32338377

Pathogenic

Hereditary cancer-predisposing syndrome
8 conditions
Hereditary breast ovarian cancer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA387779045

rs_1135401901

3 SubmittersRCV002375737 RCV005008543 RCV005629679

NM_000059.4(BRCA2):c.4053A>G (p.Lys1351=)

SNV
Germline

Chr13:32338408

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA483438141

rs_2548527526

3 SubmittersRCV002321302 RCV003476956 RCV005058347

NM_000059.4(BRCA2):c.416T>G (p.Leu139Arg)

SNV
Germline

Chr13:32325175

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA6940356

rs_80358660

3 SubmittersRCV002333396 RCV005096499 RCV005356097

NM_000059.4(BRCA2):c.4199A>G (p.His1400Arg)

SNV
Germline

Chr13:32338554

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA387780202

rs_1454140894

4 SubmittersRCV002327814 RCV003094579 RCV003234591

NM_000059.4(BRCA2):c.4205A>G (p.Asn1402Ser)

SNV
Germline

Chr13:32338560

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387780230

rs_2137503951

3 SubmittersRCV002327895 RCV005096508

NM_007294.4(BRCA1):c.441+1G>C

SNV
Germline

Chr17:43104121

Likely pathogenic

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA10601265

rs_397509172

2 SubmittersRCV002333819 RCV003485777

NM_000059.4(BRCA2):c.4412G>C (p.Arg1471Thr)

SNV
Germline

Chr13:32338767

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387781189

rs_786203839

3 SubmittersRCV002333836 RCV005096559

NM_000059.4(BRCA2):c.4420A>G (p.Lys1474Glu)

SNV
Germline

Chr13:32338775

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387781231

rs_2137506148

3 SubmittersRCV002333902 RCV003094692

NM_007294.4(BRCA1):c.3167C>A (p.Ser1056Tyr)

SNV
Germline

Chr17:43092364

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10595651

rs_587781588

3 SubmittersRCV002322581 RCV003645249

NM_007294.4(BRCA1):c.4003C>G (p.Leu1335Val)

SNV
Germline

Chr17:43091528

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10593956

rs_2154270139

3 SubmittersRCV002375680 RCV005096457

NM_000059.4(BRCA2):c.4316C>T (p.Ala1439Val)

SNV
Germline

Chr13:32338671

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387780811

rs_80358667

3 SubmittersRCV002331998 RCV006616735

NM_000059.4(BRCA2):c.3106G>C (p.Glu1036Gln)

SNV
Germline

Chr13:32337461

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA387775378

rs_1060502449

4 SubmittersRCV002326030 RCV003645248 RCV004804421

NM_000059.4(BRCA2):c.3263C>A (p.Pro1088His)

SNV
Germline

Chr13:32337618

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387776019

rs_876660365

3 SubmittersRCV002324983 RCV003645252

NM_000059.4(BRCA2):c.3743G>A (p.Ser1248Asn)

SNV
Germline

Chr13:32338098

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387778157

rs_1555283383

3 SubmittersRCV002349250 RCV006616702

NM_000059.4(BRCA2):c.3782C>T (p.Ser1261Phe)

SNV
Germline

Chr13:32338137

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387778334

rs_276174836

3 SubmittersRCV002351151 RCV005096388

NM_000059.4(BRCA2):c.3928A>G (p.Thr1310Ala)

SNV
Germline

Chr13:32338283

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387778843

rs_2072491912

3 SubmittersRCV002373205 RCV003645264

NM_000059.4(BRCA2):c.3952G>A (p.Glu1318Lys)

SNV
Germline

Chr13:32338307

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387778893

rs_2137501500

4 SubmittersRCV002375436 RCV003493935 RCV003645265

NM_000059.4(BRCA2):c.4112A>G (p.Gln1371Arg)

SNV
Germline

Chr13:32338467

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387779294

rs_2072496412

3 SubmittersRCV002323426 RCV003645269

NM_000059.4(BRCA2):c.4123G>A (p.Glu1375Lys)

SNV
Germline

Chr13:32338478

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387779341

rs_2137503120

4 SubmittersRCV002333015 RCV003775821

NM_000059.4(BRCA2):c.4144G>T (p.Glu1382Ter)

SNV
Germline

Chr13:32338499

Pathogenic

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA387779962

rs_2137503335

2 SubmittersRCV002333172 RCV003094545

NM_000059.4(BRCA2):c.4424T>A (p.Met1475Lys)

SNV
Germline

Chr13:32338779

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387781257

rs_2072503948

3 SubmittersRCV002333922 RCV003645275

NM_000059.4(BRCA2):c.4429A>T (p.Ile1477Phe)

SNV
Germline

Chr13:32338784

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387781285

rs_1159807733

3 SubmittersRCV002333943 RCV003094695

NM_000059.4(BRCA2):c.4672A>T (p.Ser1558Cys)

SNV
Germline

Chr13:32339027

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387782783

rs_587782822

3 SubmittersRCV002335164 RCV005096624

NM_000059.4(BRCA2):c.4715C>T (p.Ala1572Val)

SNV
Germline

Chr13:32339070

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387782958

rs_2072511378

3 SubmittersRCV002335361 RCV006470749

NM_000059.4(BRCA2):c.5177A>G (p.Glu1726Gly)

SNV
Germline

Chr13:32339532

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387784543

rs_2137514734

3 SubmittersRCV002338418 RCV006616772

NM_007294.4(BRCA1):c.5424G>A (p.Val1808=)

SNV
Germline

Chr17:43047686

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10590594

rs_1555574748

2 SubmittersRCV002349513 RCV003645289

NM_000059.4(BRCA2):c.5447G>T (p.Ser1816Ile)

SNV
Germline

Chr13:32339802

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA387785577

rs_2072529621

4 SubmittersRCV002349629 RCV003096743 RCV003476964

NM_000059.4(BRCA2):c.5746C>T (p.His1916Tyr)

SNV
Germline

Chr13:32340101

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387786989

rs_2137520497

3 SubmittersRCV002347810 RCV006616791

NM_000059.4(BRCA2):c.5762T>C (p.Phe1921Ser)

SNV
Germline

Chr13:32340117

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387787074

rs_2137520687

3 SubmittersRCV002359603 RCV003103227

NM_000059.4(BRCA2):c.5767G>A (p.Asp1923Asn)

SNV
Germline

Chr13:32340122

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387787087

rs_2137520737

3 SubmittersRCV002359619 RCV006616793

NM_000059.4(BRCA2):c.6015T>A (p.Asp2005Glu)

SNV
Germline

Chr13:32340370

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified

Criteria Provided
Conflicting Classifications

CA387787722

rs_2137523282

4 SubmittersRCV002358080 RCV003098103 RCV004801202

NM_000059.4(BRCA2):c.6045G>C (p.Leu2015Phe)

SNV
Germline

Chr13:32340400

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387787846

rs_1593907348

3 SubmittersRCV002358236 RCV005096886

NM_000059.4(BRCA2):c.6294T>G (p.Ser2098=)

SNV
Germline

Chr13:32340649

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA483438763

rs_2137526116

4 SubmittersRCV002368748 RCV003476968 RCV003530245 RCV004005721

NM_000059.4(BRCA2):c.6296G>A (p.Arg2099Lys)

SNV
Germline

Chr13:32340651

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387789017

rs_80358868

3 SubmittersRCV002368752 RCV003120944

NM_000059.4(BRCA2):c.6320C>T (p.Pro2107Leu)

SNV
Germline

Chr13:32340675

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387789065

rs_2072552266

3 SubmittersRCV002353998 RCV003098205

NM_007294.4(BRCA1):c.4606G>A (p.Glu1536Lys)

SNV
Germline

Chr17:43074400

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10592302

rs_876660460

2 SubmittersRCV002342413 RCV003775928

NM_000059.4(BRCA2):c.4641T>A (p.Asp1547Glu)

SNV
Germline

Chr13:32338996

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Familial prostate cancer

Criteria Provided
Conflicting Classifications

CA387782145

rs_2137508622

5 SubmittersRCV002342614 RCV003096396 RCV003476958 RCV005356100

NM_007294.4(BRCA1):c.4659G>C (p.Leu1553Phe)

SNV
Germline

Chr17:43074347

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA10592195

rs_2052588528

3 SubmittersRCV002330471 RCV003645277 RCV005424863

NM_000059.4(BRCA2):c.4848A>C (p.Leu1616Phe)

SNV
Germline

Chr13:32339203

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA247508534

rs_876659259

4 SubmittersRCV002340255 RCV006470772

NM_007294.4(BRCA1):c.4875T>G (p.Tyr1625Ter)

SNV
Germline

Chr17:43071039

Pathogenic

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA10591778

rs_886040251

2 SubmittersRCV002330816 RCV003530237

NM_000059.4(BRCA2):c.5357G>C (p.Ser1786Thr)

SNV
Germline

Chr13:32339712

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387785083

rs_2137516744

3 SubmittersRCV002346992 RCV003645287

NM_000059.4(BRCA2):c.5395G>T (p.Ala1799Ser)

SNV
Germline

Chr13:32339750

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387785295

rs_2137517102

3 SubmittersRCV002347207 RCV003096720

NM_000059.4(BRCA2):c.5917A>T (p.Asn1973Tyr)

SNV
Germline

Chr13:32340272

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387787525

rs_1555284460

3 SubmittersRCV002355775 RCV003098055

NM_000059.4(BRCA2):c.5933T>C (p.Phe1978Ser)

SNV
Germline

Chr13:32340288

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387787554

rs_2137522439

3 SubmittersRCV002355891 RCV005096869

NM_000059.4(BRCA2):c.5971G>T (p.Ala1991Ser)

SNV
Germline

Chr13:32340326

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387787625

rs_2072543048

3 SubmittersRCV002356096 RCV005096876

NM_000059.4(BRCA2):c.6221A>G (p.His2074Arg)

SNV
Germline

Chr13:32340576

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified

Criteria Provided
Conflicting Classifications

CA387788871

rs_2137525384

4 SubmittersRCV002366532 RCV003098171 RCV003321933

NM_000059.4(BRCA2):c.4831G>A (p.Val1611Met)

SNV
Germline

Chr13:32339186

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387783321

rs_1555283948

3 SubmittersRCV002338087 RCV005096668

NM_000059.4(BRCA2):c.5033A>G (p.Lys1678Arg)

SNV
Germline

Chr13:32339388

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387783986

rs_28897733

4 SubmittersRCV002335634 RCV003645283

NM_007294.4(BRCA1):c.5580C>A (p.His1860Gln)

SNV
Germline

Chr17:43045690

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10590167

rs_1597796507

2 SubmittersRCV002344752 RCV003776129

NM_000059.4(BRCA2):c.5583A>T (p.Lys1861Asn)

SNV
Germline

Chr13:32339938

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387786023

rs_749036329

3 SubmittersRCV002344763 RCV003645290

NM_000059.4(BRCA2):c.5617G>A (p.Val1873Ile)

SNV
Germline

Chr13:32339972

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified

Criteria Provided
Conflicting Classifications

CA387786099

rs_2072533593

4 SubmittersRCV002344986 RCV003645291 RCV005239381

NM_000059.4(BRCA2):c.5846A>T (p.Asp1949Val)

SNV
Germline

Chr13:32340201

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387787377

rs_431825336

3 SubmittersRCV002353304 RCV003645294

NM_000059.4(BRCA2):c.5854T>A (p.Leu1952Met)

SNV
Germline

Chr13:32340209

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387787405

rs_2137521676

3 SubmittersRCV002353358 RCV003530243

NM_000059.4(BRCA2):c.6157T>C (p.Ser2053Pro)

SNV
Germline

Chr13:32340512

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA6940931

rs_562893642

3 SubmittersRCV002360462 RCV003103271

NM_000059.4(BRCA2):c.6477A>C (p.Gln2159His)

SNV
Germline

Chr13:32340832

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387789424

rs_1566234713

3 SubmittersRCV002356186 RCV003530246

NM_000059.4(BRCA2):c.6742C>A (p.His2248Asn)

SNV
Germline

Chr13:32341097

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387791108

rs_1350512388

3 SubmittersRCV002377944 RCV006616823

NM_000059.4(BRCA2):c.6742C>T (p.His2248Tyr)

SNV
Germline

Chr13:32341097

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA387791111

rs_1350512388

4 SubmittersRCV002377945 RCV003530248 RCV003607477

NM_000059.4(BRCA2):c.4490T>G (p.Val1497Gly)

SNV
Germline

Chr13:32338845

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387781544

rs_80358681

3 SubmittersRCV002328622 RCV003094728

NM_000059.4(BRCA2):c.4517T>C (p.Phe1506Ser)

SNV
Germline

Chr13:32338872

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387781644

rs_2548528564

4 SubmittersRCV002339961 RCV003138188 RCV005058378

NM_007294.4(BRCA1):c.4528A>G (p.Met1510Val)

SNV
Germline

Chr17:43074478

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10592466

rs_1253680250

2 SubmittersRCV002340022 RCV003094741

NM_000059.4(BRCA2):c.4528C>T (p.Pro1510Ser)

SNV
Germline

Chr13:32338883

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387781689

rs_2137507279

3 SubmittersRCV002340023 RCV005096585

NM_000059.4(BRCA2):c.4763C>T (p.Ala1588Val)

SNV
Germline

Chr13:32339118

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387783139

rs_2137509940

3 SubmittersRCV002337679 RCV003645280

NM_000059.4(BRCA2):c.4984T>C (p.Ser1662Pro)

SNV
Germline

Chr13:32339339

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387783872

rs_2137512426

3 SubmittersRCV002351356 RCV005096709

NM_000059.4(BRCA2):c.5216A>C (p.Tyr1739Ser)

SNV
Germline

Chr13:32339571

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA387784626

rs_2072523751

4 SubmittersRCV002340792 RCV003096657 RCV006262439

NM_000059.4(BRCA2):c.5246A>G (p.Tyr1749Cys)

SNV
Germline

Chr13:32339601

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA6940859

rs_55828982

3 SubmittersRCV002340919 RCV003776071

NM_000059.4(BRCA2):c.5266G>A (p.Val1756Ile)

SNV
Germline

Chr13:32339621

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387784735

rs_876659138

3 SubmittersRCV002341047 RCV003645286

NM_000059.4(BRCA2):c.1198C>T (p.Leu400Phe)

SNV
Germline

Chr13:32332676

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387762052

rs_1413065373

3 SubmittersRCV002344409 RCV003530240

NM_000059.4(BRCA2):c.5491A>T (p.Ile1831Leu)

SNV
Germline

Chr13:32339846

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387785760

rs_1593905631

3 SubmittersRCV002351552 RCV005096794

NM_000059.4(BRCA2):c.6107C>G (p.Pro2036Arg)

SNV
Germline

Chr13:32340462

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387788115

rs_1455395828

4 SubmittersRCV002360196 RCV003098140

NM_000059.4(BRCA2):c.6371A>C (p.Lys2124Thr)

SNV
Germline

Chr13:32340726

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387789172

rs_2137526799

3 SubmittersRCV002354046 RCV003776247

NM_000059.4(BRCA2):c.7949A>G (p.Glu2650Gly)

SNV
Germline

Chr13:32362666

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387747241

rs_2137577775

2 SubmittersRCV002416848 RCV003645302

NM_000059.4(BRCA2):c.8309C>G (p.Ala2770Gly)

SNV
Germline

Chr13:32363511

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387750206

rs_28897750

2 SubmittersRCV002430365 RCV005097215

NM_000059.4(BRCA2):c.8332-3384A>T

SNV
Germline

Chr13:32367018

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA2580087515

rs_2072787542

2 SubmittersRCV002434646 RCV005097222

NM_000059.4(BRCA2):c.8392C>A (p.Pro2798Thr)

SNV
Germline

Chr13:32370462

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387752480

rs_750640009

2 SubmittersRCV002434855 RCV005058538

NM_000059.4(BRCA2):c.925T>C (p.Ser309Pro)

SNV
Germline

Chr13:32332403

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387760753

rs_2137465924

3 SubmittersRCV002371421 RCV005097321

NM_000059.4(BRCA2):c.9280T>G (p.Ser3094Ala)

SNV
Germline

Chr13:32394712

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA387760803

rs_2137652091

3 SubmittersRCV002371470 RCV003645308 RCV004007283

NM_000059.4(BRCA2):c.929T>A (p.Leu310Ter)

SNV
Germline

Chr13:32332407

Pathogenic

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA387760764

rs_2072400713

2 SubmittersRCV002371506 RCV005097324

NM_000059.4(BRCA2):c.6820G>A (p.Gly2274Arg)

SNV
Germline

Chr13:32341175

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387791437

rs_2137530916

3 SubmittersRCV002369605 RCV005097020

NM_000059.4(BRCA2):c.682-1G>A

SNV
Germline

Chr13:32330918

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA387759828

rs_81002831

2 SubmittersRCV002369608 RCV005629681

NM_000059.4(BRCA2):c.682-3C>T

SNV
Germline

Chr13:32330916

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA609085430

rs_1244178555

3 SubmittersRCV002369617 RCV003645295

NM_000059.4(BRCA2):c.6823G>C (p.Glu2275Gln)

SNV
Germline

Chr13:32341178

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387791443

rs_587782362

3 SubmittersRCV002369620 RCV003098396

NM_000059.4(BRCA2):c.6833T>C (p.Ile2278Thr)

SNV
Germline

Chr13:32341188

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387791487

rs_1555284865

3 SubmittersRCV002362030 RCV003645296

NM_000059.4(BRCA2):c.1238T>C (p.Leu413Pro)

SNV
Germline

Chr13:32332716

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387762223

rs_2072407340

3 SubmittersRCV002378377 RCV003645297

NM_000059.4(BRCA2):c.7538C>T (p.Ala2513Val)

SNV
Germline

Chr13:32356530

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387743619

rs_1060502401

2 SubmittersRCV002393907 RCV003099671

NM_000059.4(BRCA2):c.7831G>A (p.Asp2611Asn)

SNV
Germline

Chr13:32362548

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387747004

rs_2072744827

2 SubmittersRCV002412124 RCV003099759

NM_000059.4(BRCA2):c.7862A>G (p.Tyr2621Cys)

SNV
Germline

Chr13:32362579

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast and/or ovarian cancer

Criteria Provided
Conflicting Classifications

CA387747072

rs_1566244772

3 SubmittersRCV002412239 RCV003099763 RCV003492758

NM_000059.4(BRCA2):c.787A>C (p.Ser263Arg)

SNV
Germline

Chr13:32331024

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387760242

rs_2137462310

2 SubmittersRCV002412295 RCV003099770

NM_000059.4(BRCA2):c.7901T>A (p.Met2634Lys)

SNV
Germline

Chr13:32362618

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387747146

rs_786202102

3 SubmittersRCV002416658 RCV003776455

NM_007294.4(BRCA1):c.871T>G (p.Leu291Val)

SNV
Germline

Chr17:43094660

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10600335

rs_1209004897

3 SubmittersRCV002373477 RCV003530257

NM_000059.4(BRCA2):c.9102G>T (p.Gln3034His)

SNV
Germline

Chr13:32379898

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387757699

rs_1336395181

3 SubmittersRCV002378654 RCV003464500 RCV003100098

NM_000059.4(BRCA2):c.9107A>G (p.Gln3036Arg)

SNV
Germline

Chr13:32379903

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387757713

rs_2137623768

2 SubmittersRCV002378658 RCV003645307

NM_000059.4(BRCA2):c.9180T>G (p.Phe3060Leu)

SNV
Germline

Chr13:32380069

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387758066

rs_777390929

2 SubmittersRCV002378900 RCV003100115

NM_000059.4(BRCA2):c.6757C>T (p.Leu2253Phe)

SNV
Germline

Chr13:32341112

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA387791168

rs_1555284846

4 SubmittersRCV002369239 RCV003776308 RCV004005736

NM_000059.4(BRCA2):c.6769C>A (p.Pro2257Thr)

SNV
Germline

Chr13:32341124

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387791212

rs_1566235374

3 SubmittersRCV002369291 RCV006616824

NM_007294.4(BRCA1):c.738G>C (p.Leu246Phe)

SNV
Germline

Chr17:43094793

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA056696

rs_768416164

3 SubmittersRCV002380450 RCV005097107

NM_000059.4(BRCA2):c.7442T>G (p.Ile2481Ser)

SNV
Germline

Chr13:32356434

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387742987

rs_2137561711

2 SubmittersRCV002385081 RCV003103404

NM_007294.4(BRCA1):c.1250A>C (p.Asn417Thr)

SNV
Germline

Chr17:43094281

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10599553

rs_80357113

3 SubmittersRCV002409761 RCV006620521

NM_000059.4(BRCA2):c.8146G>A (p.Val2716Met)

SNV
Germline

Chr13:32363348

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387749499

rs_777094216

2 SubmittersRCV002421378 RCV003099848

NM_000059.4(BRCA2):c.8161C>G (p.Leu2721Val)

SNV
Germline

Chr13:32363363

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387749564

rs_2072757587

2 SubmittersRCV002421436 RCV006469845

NM_000059.4(BRCA2):c.8557A>G (p.Lys2853Glu)

SNV
Germline

Chr13:32371025

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387752791

rs_1057517865

2 SubmittersRCV002414476 RCV003530255

NM_000059.4(BRCA2):c.8560T>C (p.Tyr2854His)

SNV
Germline

Chr13:32371028

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Hereditary cancer

Criteria Provided
Conflicting Classifications

CA387752797

rs_2137600401

3 SubmittersRCV002447867 RCV003099973 RCV004698869

NM_000059.4(BRCA2):c.8579A>G (p.Lys2860Arg)

SNV
Germline

Chr13:32371047

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387752835

rs_2137600643

2 SubmittersRCV002447889 RCV005058544

NM_000059.4(BRCA2):c.950C>A (p.Thr317Lys)

SNV
Germline

Chr13:32332428

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
BRCA2-related disorder
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387760847

rs_1341473353

4 SubmittersRCV002374171 RCV004545311 RCV005097348

NM_000059.4(BRCA2):c.9511A>G (p.Ile3171Val)

SNV
Germline

Chr13:32396907

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387762865

rs_786202713

2 SubmittersRCV002374190 RCV003094822

NM_007294.4(BRCA1):c.956A>C (p.Asn319Thr)

SNV
Germline

Chr17:43094575

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10600153

rs_397507258

3 SubmittersRCV002385203 RCV003645310

NM_000059.4(BRCA2):c.6670G>C (p.Glu2224Gln)

SNV
Germline

Chr13:32341025

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387790517

rs_2137529623

3 SubmittersRCV002366965 RCV005096979

NM_000059.4(BRCA2):c.6673A>G (p.Thr2225Ala)

SNV
Germline

Chr13:32341028

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387790533

rs_2137529657

3 SubmittersRCV002366973 RCV003108048

NM_007294.4(BRCA1):c.1228G>C (p.Ala410Pro)

SNV
Germline

Chr17:43094303

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10599596

rs_779974365

3 SubmittersRCV002367051 RCV003776297

NM_000059.4(BRCA2):c.67+5T>C

SNV
Germline

Chr13:32316532

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA609083265

rs_587781738

2 SubmittersRCV002367168 RCV003098339

NM_007294.4(BRCA1):c.670+1G>A

SNV
Germline

Chr17:43095845

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10600756

rs_398122706

3 SubmittersRCV002367169 RCV003464481 RCV003776299

NM_000059.4(BRCA2):c.7322G>A (p.Gly2441Asp)

SNV
Germline

Chr13:32355175

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA247468704

rs_80358958

2 SubmittersRCV002380121 RCV003103388

NM_000059.4(BRCA2):c.7334G>C (p.Ser2445Thr)

SNV
Germline

Chr13:32355187

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA387741223

rs_2072682728

3 SubmittersRCV002380188 RCV003098548 RCV004572348

NM_000059.4(BRCA2):c.7672G>A (p.Glu2558Lys)

SNV
Germline

Chr13:32357796

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387745055

rs_886037816

2 SubmittersRCV002400456 RCV005097145

NM_000059.4(BRCA2):c.8011G>A (p.Ala2671Thr)

SNV
Germline

Chr13:32363213

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387748752

rs_786201976

2 SubmittersRCV002419230 RCV003645303

NM_000059.4(BRCA2):c.8048C>G (p.Ala2683Gly)

SNV
Germline

Chr13:32363250

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387749049

rs_2137580251

2 SubmittersRCV002419311 RCV005097185

NM_007294.4(BRCA1):c.806T>A (p.Leu269Ter)

SNV
Germline

Chr17:43094725

Pathogenic

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Periventricular nodular heterotopia
Inherited breast cancer and ovarian cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA10600471

rs_2154492047

4 SubmittersRCV002419371 RCV004579586 RCV004526928 RCV004694227

NM_000059.4(BRCA2):c.809C>A (p.Ser270Ter)

SNV
Germline

Chr13:32332287

Pathogenic

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA387760388

rs_276174902

2 SubmittersRCV002419462 RCV005097193

NM_000059.4(BRCA2):c.938C>G (p.Ser313Cys)

SNV
Germline

Chr13:32332416

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387760800

rs_397507428

3 SubmittersRCV002373861 RCV005097332

NM_007294.4(BRCA1):c.1277C>T (p.Ser426Leu)

SNV
Germline

Chr17:43094254

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10599502

rs_886039939

3 SubmittersRCV002373947 RCV003094805

NM_007294.4(BRCA1):c.931C>T (p.Pro311Ser)

SNV
Germline

Chr17:43094600

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10600204

rs_2154484620

3 SubmittersRCV002371603 RCV003774169

NM_000059.4(BRCA2):c.9732C>T (p.Val3244=)

SNV
Germline

Chr13:32398245

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA483439949

rs_2137663318

2 SubmittersRCV002387065 RCV003094865

NM_007294.4(BRCA1):c.1426C>T (p.His476Tyr)

SNV
Germline

Chr17:43094105

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10599192

rs_2154446641

3 SubmittersRCV002391940 RCV003108073

NM_000465.4(BARD1):c.1658C>G (p.Ser553Ter)

SNV
Germline

Chr2:214752466

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Hereditary breast ovarian cancer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA350454613

rs_2469377733

4 SubmittersRCV002395071 RCV003100775 RCV005239424

NM_000059.4(BRCA2):c.1666A>C (p.Asn556His)

SNV
Germline

Chr13:32333144

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387765051

rs_587781794

3 SubmittersRCV002403891 RCV003645316

NM_007294.4(BRCA1):c.986A>G (p.Asn329Ser)

SNV
Germline

Chr17:43094545

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10600086

rs_2154481138

3 SubmittersRCV002387348 RCV006620565

NM_000059.4(BRCA2):c.1343G>C (p.Arg448Pro)

SNV
Germline

Chr13:32332821

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387762740

rs_80358423

3 SubmittersRCV002387761 RCV003103654

NM_000059.4(BRCA2):c.1480G>T (p.Val494Leu)

SNV
Germline

Chr13:32332958

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387764421

rs_1555281919

3 SubmittersRCV002397137 RCV003645313

NM_000059.4(BRCA2):c.1562C>G (p.Ser521Ter)

SNV
Germline

Chr13:32333040

Pathogenic

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA387764706

rs_2137472667

2 SubmittersRCV003530260 RCV002405437

NM_000059.4(BRCA2):c.1654T>A (p.Ser552Thr)

SNV
Germline

Chr13:32333132

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387765009

rs_1339661429

3 SubmittersRCV002395050 RCV003097066

NM_000059.4(BRCA2):c.1057T>C (p.Ser353Pro)

SNV
Germline

Chr13:32332535

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387761322

rs_2137467235

3 SubmittersRCV002407438 RCV006559278

NM_007294.4(BRCA1):c.1540C>T (p.Pro514Ser)

SNV
Germline

Chr17:43093991

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10598970

rs_1555591584

3 SubmittersRCV002403165 RCV003095310

NM_007194.4(CHEK2):c.1540C>T (p.Gln514Ter)

SNV
Germline

Chr22:28689137

Pathogenic/Likely pathogenic

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA411092296

rs_2145748011

4 SubmittersRCV003095311 RCV002403166 RCV006261779

NM_000059.4(BRCA2):c.1705C>G (p.Gln569Glu)

SNV
Germline

Chr13:32333183

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387765263

rs_397507274

3 SubmittersRCV002414730 RCV006620610

NM_000059.4(BRCA2):c.1883C>T (p.Pro628Leu)

SNV
Germline

Chr13:32333361

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA387766679

rs_2137475977

5 SubmittersRCV002415344 RCV003100915 RCV003493950 RCV004999749

NM_000059.4(BRCA2):c.1294G>C (p.Glu432Gln)

SNV
Germline

Chr13:32332772

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387762494

rs_2137469719

3 SubmittersRCV002380618 RCV003094926

NM_007294.4(BRCA1):c.1298C>T (p.Ala433Val)

SNV
Germline

Chr17:43094233

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10599457

rs_2552217520

3 SubmittersRCV002380708 RCV005097414

NM_000059.4(BRCA2):c.1372C>T (p.Pro458Ser)

SNV
Germline

Chr13:32332850

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387762933

rs_1415796889

3 SubmittersRCV002383730 RCV005058600

NM_007294.4(BRCA1):c.1378A>C (p.Ile460Leu)

SNV
Germline

Chr17:43094153

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10599288

rs_2154449907

3 SubmittersRCV002381086 RCV003095060

NM_007294.4(BRCA1):c.1438A>C (p.Asn480His)

SNV
Germline

Chr17:43094093

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10599167

rs_2154446131

3 SubmittersRCV002394298 RCV003095162

NM_007294.4(BRCA1):c.1694A>C (p.Glu565Ala)

SNV
Germline

Chr17:43093837

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA10598642

rs_2053899114

4 SubmittersRCV002406198 RCV003645317 RCV004007353

NM_007294.4(BRCA1):c.1777A>C (p.Asn593His)

SNV
Germline

Chr17:43093754

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA057501

rs_772975110

4 SubmittersRCV002404000 RCV003100827

NM_000059.4(BRCA2):c.1064T>G (p.Val355Gly)

SNV
Germline

Chr13:32332542

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387761366

rs_1593891845

3 SubmittersRCV002413025 RCV003645320

NM_000059.4(BRCA2):c.1843A>C (p.Asn615His)

SNV
Germline

Chr13:32333321

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA6940545

rs_777641881

3 SubmittersRCV002412880 RCV003530262

NM_007294.4(BRCA1):c.1982G>T (p.Arg661Met)

SNV
Germline

Chr17:43093549

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10598051

rs_2053848136

3 SubmittersRCV002423706 RCV006559318

NM_007294.4(BRCA1):c.2075A>G (p.His692Arg)

SNV
Germline

Chr17:43093456

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10597851

rs_2053831947

3 SubmittersRCV002422196 RCV003101040

NM_007294.4(BRCA1):c.2084A>G (p.Asp695Gly)

SNV
Germline

Chr17:43093447

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10597834

rs_2552193928

3 SubmittersRCV002423919 RCV003121027

NM_007294.4(BRCA1):c.2168A>G (p.Asn723Ser)

SNV
Germline

Chr17:43093363

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10597667

rs_2154395768

3 SubmittersRCV002432668 RCV003645322

NM_000059.4(BRCA2):c.2170A>T (p.Lys724Ter)

SNV
Germline

Chr13:32336525

Pathogenic

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA387770288

rs_2137483902

2 SubmittersRCV002432729 RCV003101106

NM_000059.4(BRCA2):c.2179T>C (p.Ser727Pro)

SNV
Germline

Chr13:32336534

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387770351

rs_2137483967

3 SubmittersRCV002432862 RCV003098690

NM_000059.4(BRCA2):c.2404A>G (p.Asn802Asp)

SNV
Germline

Chr13:32336759

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387771985

rs_2137486117

3 SubmittersRCV002459676 RCV005098124

NM_007294.4(BRCA1):c.1948A>G (p.Ile650Val)

SNV
Germline

Chr17:43093583

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA057652

rs_749896277

3 SubmittersRCV002413283 RCV005097850

NM_000059.4(BRCA2):c.2146C>T (p.Gln716Ter)

SNV
Germline

Chr13:32336501

Pathogenic

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA387770160

rs_2137483697

2 SubmittersRCV002430620 RCV003098655

NM_007294.4(BRCA1):c.2258G>C (p.Ser753Thr)

SNV
Germline

Chr17:43093273

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10597482

rs_878854939

4 SubmittersRCV002443660 RCV004007411 RCV005098033

NM_007294.4(BRCA1):c.2359G>A (p.Glu787Lys)

SNV
Germline

Chr17:43093172

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10597293

rs_1288796003

3 SubmittersRCV003101756 RCV002457698

NM_000059.4(BRCA2):c.2494G>C (p.Glu832Gln)

SNV
Germline

Chr13:32336849

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA387772411

rs_786202875

4 SubmittersRCV002430988 RCV003530267 RCV004804479

NM_000059.4(BRCA2):c.2608A>G (p.Ile870Val)

SNV
Germline

Chr13:32336963

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA6940616

rs_546036225

3 SubmittersRCV002437152 RCV003645326

NM_000059.4(BRCA2):c.1934G>T (p.Arg645Ile)

SNV
Germline

Chr13:32336289

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA387768324

rs_2137481950

4 SubmittersRCV002410970 RCV003100946 RCV003388117

NM_007294.4(BRCA1):c.2020C>A (p.Pro674Thr)

SNV
Germline

Chr17:43093511

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10597970

rs_1567797243

3 SubmittersRCV002419577 RCV003097430

NM_007294.4(BRCA1):c.2110A>G (p.Asn704Asp)

SNV
Germline

Chr17:43093421

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10597783

rs_1597872096

4 SubmittersRCV002417476 RCV003098625 RCV006258843

NM_000059.4(BRCA2):c.2221G>A (p.Val741Ile)

SNV
Germline

Chr13:32336576

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387770676

rs_80358493

4 SubmittersRCV002428087 RCV004007408 RCV005098016

NM_007294.4(BRCA1):c.2341G>T (p.Glu781Ter)

SNV
Germline

Chr17:43093190

Pathogenic

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA10597324

rs_757933953

3 SubmittersRCV002428522 RCV002509841

NM_000059.4(BRCA2):c.2440C>A (p.Pro814Thr)

SNV
Germline

Chr13:32336795

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387772215

rs_2137486481

3 SubmittersRCV002460034 RCV003645323

NM_000059.4(BRCA2):c.2445G>A (p.Met815Ile)

SNV
Germline

Chr13:32336800

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387772247

rs_2137486537

3 SubmittersRCV002455391 RCV003775253

NM_007294.4(BRCA1):c.2446C>G (p.His816Asp)

SNV
Germline

Chr17:43093085

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10597118

rs_1597869935

3 SubmittersRCV002450476 RCV003101830

NM_007294.4(BRCA1):c.2091C>G (p.Phe697Leu)

SNV
Germline

Chr17:43093440

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10597819

rs_2154399882

3 SubmittersRCV002424049 RCV003645321

NM_000059.4(BRCA2):c.209C>T (p.Ser70Phe)

SNV
Germline

Chr13:32319218

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA6940330

rs_376931156

3 SubmittersRCV002424172 RCV003098611

NM_000059.4(BRCA2):c.2186T>G (p.Ile729Arg)

SNV
Germline

Chr13:32336541

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387770406

rs_431825296

3 SubmittersRCV002425491 RCV003482167

NM_007294.4(BRCA1):c.2194G>A (p.Glu732Lys)

SNV
Germline

Chr17:43093337

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10597612

rs_80357426

3 SubmittersRCV002425583 RCV003530266

NM_007294.4(BRCA1):c.2425G>C (p.Glu809Gln)

SNV
Germline

Chr17:43093106

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10597161

rs_786204151

3 SubmittersRCV002459836 RCV005098130

NM_007294.4(BRCA1):c.2522G>T (p.Arg841Leu)

SNV
Germline

Chr17:43093009

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10596951

rs_80357337

3 SubmittersRCV002455685 RCV005058806

NM_000059.4(BRCA2):c.2527G>C (p.Ala843Pro)

SNV
Germline

Chr13:32336882

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387772478

rs_1555282730

3 SubmittersRCV002433096 RCV003101923

NM_007294.4(BRCA1):c.2533A>G (p.Ile845Val)

SNV
Germline

Chr17:43092998

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA058471

rs_747649874

5 SubmittersRCV002433185 RCV003101936 RCV004999757

NM_007294.4(BRCA1):c.1108G>T (p.Val370Phe)

SNV
Germline

Chr17:43094423

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA10599840

rs_1567800850

5 SubmittersRCV002453095 RCV003314734 RCV003645327 RCV004007439

NM_000059.4(BRCA2):c.2798C>A (p.Thr933Lys)

SNV
Germline

Chr13:32337153

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387773741

rs_276174830

3 SubmittersRCV002441480 RCV003645328

NM_007294.4(BRCA1):c.2820T>A (p.Asp940Glu)

SNV
Germline

Chr17:43092711

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10596353

rs_1414992991

3 SubmittersRCV002434979 RCV003102757

NM_000059.4(BRCA2):c.2747G>A (p.Cys916Tyr)

SNV
Germline

Chr13:32337102

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387773632

rs_2072463871

3 SubmittersRCV002439308 RCV003102169

NM_032043.3(BRIP1):c.2905+1G>C

SNV
Germline

Chr17:61685835

Likely pathogenic

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA400481089

rs_876660203

3 SubmittersRCV002439743 RCV004765524

NM_000059.4(BRCA2):c.3055C>T (p.Leu1019Phe)

SNV
Germline

Chr13:32337410

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387775085

rs_55638633

3 SubmittersRCV002444142 RCV003775452

NM_007294.4(BRCA1):c.3062G>C (p.Ser1021Thr)

SNV
Germline

Chr17:43092469

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10595863

rs_1414091448

3 SubmittersRCV002444235 RCV003103022

NM_007294.4(BRCA1):c.1566T>G (p.Asp522Glu)

SNV
Germline

Chr17:43093965

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10598911

rs_2154435908

4 SubmittersRCV002467138 RCV003157202 RCV005098436

NM_007294.4(BRCA1):c.1548T>C (p.Asp516=)

SNV
Germline

Chr17:43093983

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA500233471

rs_2154438119

2 SubmittersRCV002481126 RCV002574714

NM_000059.4(BRCA2):c.3744T>A (p.Ser1248Arg)

SNV
Germline

Chr13:32338099

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387778159

rs_1593900397

3 SubmittersRCV002481127 RCV003157206 RCV003530271

NM_000059.4(BRCA2):c.841G>C (p.Asp281His)

SNV
Germline

Chr13:32332319

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387760496

rs_80359088

2 SubmittersRCV003051467 RCV003157964

NM_007294.4(BRCA1):c.1546G>C (p.Asp516His)

SNV
Germline

Chr17:43093985

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10598959

rs_2154438253

3 SubmittersRCV003050478 RCV003157962

NM_000059.4(BRCA2):c.3371A>C (p.Gln1124Pro)

SNV
Germline

Chr13:32337726

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387776401

rs_1555283204

2 SubmittersRCV003062572 RCV003157958

NM_000059.4(BRCA2):c.3814A>T (p.Met1272Leu)

SNV
Germline

Chr13:32338169

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387778458

rs_80358624

2 SubmittersRCV003062573 RCV003157959

NM_000059.4(BRCA2):c.4256A>C (p.Lys1419Thr)

SNV
Germline

Chr13:32338611

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387780460

rs_1593901833

3 SubmittersRCV003041185 RCV003157960

NM_007294.4(BRCA1):c.1100C>A (p.Thr367Asn)

SNV
Germline

Chr17:43094431

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10599858

rs_1238929596

3 SubmittersRCV003157963 RCV003070738

NM_000059.4(BRCA2):c.3487G>A (p.Asp1163Asn)

SNV
Germline

Chr13:32337842

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387776888

rs_2137497090

2 SubmittersRCV003074292 RCV003157965

NM_007294.4(BRCA1):c.2741A>G (p.Glu914Gly)

SNV
Germline

Chr17:43092790

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10596508

rs_2552184281

2 SubmittersRCV003063444 RCV003157966

NM_007294.4(BRCA1):c.3118A>G (p.Ser1040Gly)

SNV
Germline

Chr17:43092413

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10595749

rs_2552169804

2 SubmittersRCV003085678 RCV003157967

NM_000059.4(BRCA2):c.1572G>C (p.Met524Ile)

SNV
Germline

Chr13:32333050

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387764737

rs_2137472762

2 SubmittersRCV003072858 RCV003157969

NM_000059.4(BRCA2):c.3524A>G (p.Gln1175Arg)

SNV
Germline

Chr13:32337879

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA387777066

rs_2137497514

3 SubmittersRCV003072859 RCV003157970 RCV003607560

NM_007294.4(BRCA1):c.2324C>G (p.Thr775Ser)

SNV
Germline

Chr17:43093207

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10597355

rs_1567796086

2 SubmittersRCV003087404 RCV003157971

NM_000059.4(BRCA2):c.2402A>G (p.Asn801Ser)

SNV
Germline

Chr13:32336757

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387771976

rs_2137486090

2 SubmittersRCV003083869 RCV003157968

NM_007294.4(BRCA1):c.1276T>G (p.Ser426Ala)

SNV
Germline

Chr17:43094255

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10599503

rs_1567800197

3 SubmittersRCV003070195 RCV003157972

NM_000059.4(BRCA2):c.4768A>G (p.Lys1590Glu)

SNV
Germline

Chr13:32339123

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387783156

rs_2137510022

2 SubmittersRCV002581963 RCV003157973

NM_000059.4(BRCA2):c.1556G>A (p.Ser519Asn)

SNV
Germline

Chr13:32333034

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Nephroblastoma
Familial colorectal cancer type X

Criteria Provided
Conflicting Classifications

CA387764680

rs_2548520519

6 SubmittersRCV002620477 RCV003157975 RCV003477051 RCV005356298

NM_007294.4(BRCA1):c.1975C>T (p.Pro659Ser)

SNV
Germline

Chr17:43093556

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10598064

rs_587776481

3 SubmittersRCV002595340 RCV003157974

NM_007294.4(BRCA1):c.2080A>G (p.Ser694Gly)

SNV
Germline

Chr17:43093451

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10597842

rs_2154400472

2 SubmittersRCV002623908 RCV003157976

NM_000059.4(BRCA2):c.2138A>G (p.Gln713Arg)

SNV
Germline

Chr13:32336493

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387770116

rs_55816687

2 SubmittersRCV003122060 RCV003157982

NM_000059.4(BRCA2):c.3674C>G (p.Thr1225Arg)

SNV
Germline

Chr13:32338029

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387777999

rs_1490822985

2 SubmittersRCV003109192 RCV003157980

NM_000059.4(BRCA2):c.872T>C (p.Leu291Pro)

SNV
Germline

Chr13:32332350

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387760603

rs_2137465433

2 SubmittersRCV003110384 RCV003157979

NM_000059.4(BRCA2):c.5114T>C (p.Ile1705Thr)

SNV
Germline

Chr13:32339469

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387784145

rs_2137514090

2 SubmittersRCV002587273 RCV003157209

NM_000059.4(BRCA2):c.5357G>A (p.Ser1786Asn)

SNV
Germline

Chr13:32339712

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387785077

rs_2137516744

2 SubmittersRCV002580393 RCV003157208

NM_000059.4(BRCA2):c.2776A>G (p.Thr926Ala)

SNV
Germline

Chr13:32337131

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387773695

rs_2548524634

3 SubmittersRCV002604219 RCV003157212

NM_000059.4(BRCA2):c.2525T>C (p.Val842Ala)

SNV
Germline

Chr13:32336880

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387772476

rs_2137487379

2 SubmittersRCV003157211 RCV002630108

NM_007294.4(BRCA1):c.3873T>A (p.Cys1291Ter)

SNV
Germline

Chr17:43091658

Pathogenic

Hereditary breast ovarian cancer syndrome

Criteria Provided
Single Submitter

CA10594216

rs_1245187485

1 SubmittersRCV002618686

NM_000059.4(BRCA2):c.8457T>A (p.Asp2819Glu)

SNV
Germline

Chr13:32370527

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387752594

rs_876660166

2 SubmittersRCV002658120 RCV004603215

NM_007294.4(BRCA1):c.1765A>G (p.Ser589Gly)

SNV
Germline

Chr17:43093766

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10598496

rs_2154424891

3 SubmittersRCV002654337 RCV004007538 RCV003157216

NM_007294.4(BRCA1):c.3391G>C (p.Asp1131His)

SNV
Germline

Chr17:43092140

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10595196

rs_1555587816

2 SubmittersRCV002646212 RCV003157213

NM_007294.4(BRCA1):c.3956G>C (p.Gly1319Ala)

SNV
Germline

Chr17:43091575

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10594050

rs_587782634

2 SubmittersRCV002650374 RCV003157214

NM_007294.4(BRCA1):c.1972A>G (p.Met658Val)

SNV
Germline

Chr17:43093559

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10598072

rs_55932871

3 SubmittersRCV002659045 RCV003157215

NM_000059.4(BRCA2):c.3049A>G (p.Ile1017Val)

SNV
Germline

Chr13:32337404

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387775031

rs_2072470931

2 SubmittersRCV002676259 RCV003157217

NM_000059.4(BRCA2):c.3877A>G (p.Ile1293Val)

SNV
Germline

Chr13:32338232

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387778730

rs_876659799

3 SubmittersRCV002676485 RCV003157218

NM_000059.4(BRCA2):c.3078G>C (p.Lys1026Asn)

SNV
Germline

Chr13:32337433

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387775200

rs_762692063

3 SubmittersRCV002695553 RCV003157222

NM_007294.4(BRCA1):c.2011G>A (p.Gly671Ser)

SNV
Germline

Chr17:43093520

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10597989

rs_1567797285

2 SubmittersRCV002706764 RCV003157228

NM_007294.4(BRCA1):c.3469G>C (p.Gly1157Arg)

SNV
Germline

Chr17:43092062

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10595042

rs_2154311804

4 SubmittersRCV002725709 RCV004007559 RCV003157225

NM_000059.4(BRCA2):c.4372C>A (p.His1458Asn)

SNV
Germline

Chr13:32338727

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA387781008

rs_80358672

4 SubmittersRCV002706512 RCV003157227 RCV004765554

NM_007294.4(BRCA1):c.2483G>C (p.Gly828Ala)

SNV
Germline

Chr17:43093048

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10597036

rs_1555589578

2 SubmittersRCV002725924 RCV003157229

NM_000059.4(BRCA2):c.4624G>T (p.Val1542Leu)

SNV
Germline

Chr13:32338979

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387782071

rs_28897729

3 SubmittersRCV002686260 RCV003157219

NM_000059.4(BRCA2):c.1889C>G (p.Thr630Arg)

SNV
Germline

Chr13:32333367

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387766741

rs_80358479

2 SubmittersRCV002700930 RCV003157223

NM_000059.4(BRCA2):c.6605A>T (p.Asp2202Val)

SNV
Germline

Chr13:32340960

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387790120

rs_2137528989

2 SubmittersRCV002706312 RCV003157226

NM_000059.4(BRCA2):c.6777T>A (p.Asn2259Lys)

SNV
Germline

Chr13:32341132

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA387791248

rs_2072565139

4 SubmittersRCV002705621 RCV003157220 RCV003477013

NM_000059.4(BRCA2):c.4099A>C (p.Lys1367Gln)

SNV
Germline

Chr13:32338454

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
not specified

Criteria Provided
Conflicting Classifications

CA387779245

rs_2137502904

5 SubmittersRCV002690070 RCV003477014 RCV003157221 RCV004587371

NM_000059.4(BRCA2):c.1745C>G (p.Thr582Ser)

SNV
Germline

Chr13:32333223

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387765470

rs_2137474446

2 SubmittersRCV002691075 RCV003157224

NM_000059.4(BRCA2):c.3853G>T (p.Glu1285Ter)

SNV
Germline

Chr13:32338208

Pathogenic

Hereditary breast ovarian cancer syndrome

Criteria Provided
Single Submitter

CA387778621

rs_2548527062

1 SubmittersRCV002760189

NM_000059.4(BRCA2):c.5758G>A (p.Val1920Ile)

SNV
Germline

Chr13:32340113

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387787054

rs_2548531673

3 SubmittersRCV002721846 RCV003157230

NM_000059.4(BRCA2):c.1816C>G (p.Pro606Ala)

SNV
Germline

Chr13:32333294

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387766020

rs_765924757

4 SubmittersRCV002721847 RCV003157231

NM_000059.4(BRCA2):c.5572A>G (p.Thr1858Ala)

SNV
Germline

Chr13:32339927

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA6940887

rs_779878000

3 SubmittersRCV002712127 RCV003157232

NM_007294.4(BRCA1):c.2047A>C (p.Lys683Gln)

SNV
Germline

Chr17:43093484

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10597912

rs_2154402184

2 SubmittersRCV002730592 RCV003157233

NM_000059.4(BRCA2):c.1171T>G (p.Leu391Val)

SNV
Germline

Chr13:32332649

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA387761951

rs_773412718

5 SubmittersRCV002746723 RCV003157235 RCV004007579

NM_007294.4(BRCA1):c.1453G>A (p.Ala485Thr)

SNV
Germline

Chr17:43094078

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10599136

rs_2552208552

3 SubmittersRCV002765821 RCV003157234

NM_007294.4(BRCA1):c.2230G>C (p.Ala744Pro)

SNV
Germline

Chr17:43093301

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
BRCA1-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA10597539

rs_786203435

4 SubmittersRCV002766060 RCV003157236 RCV004804504

NM_000059.4(BRCA2):c.7647C>T (p.Cys2549=)

SNV
Germline

Chr13:32357771

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA483439151

rs_80358993

2 SubmittersRCV002780674 RCV003477017

NM_000059.4(BRCA2):c.1114A>T (p.Asn372Tyr)

SNV
Germline

Chr13:32332592

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387761624

rs_144848

3 SubmittersRCV002805842 RCV003157240

NM_000059.4(BRCA2):c.2303C>G (p.Thr768Ser)

SNV
Germline

Chr13:32336658

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA387771342

rs_55824746

3 SubmittersRCV002756276 RCV003157237 RCV004007585

NM_007294.4(BRCA1):c.1929T>A (p.Ser643Arg)

SNV
Germline

Chr17:43093602

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10598168

rs_1060502361

2 SubmittersRCV002790456 RCV003157238

NM_000059.4(BRCA2):c.4070T>C (p.Leu1357Pro)

SNV
Germline

Chr13:32338425

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA6940744

rs_55796504

2 SubmittersRCV002781346 RCV003157239

NM_000059.4(BRCA2):c.6377G>A (p.Cys2126Tyr)

SNV
Germline

Chr13:32340732

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387789183

rs_2137526863

3 SubmittersRCV002819193 RCV003157243

NM_000059.4(BRCA2):c.4443G>C (p.Glu1481Asp)

SNV
Germline

Chr13:32338798

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387781345

rs_876659618

2 SubmittersRCV002824533 RCV003157251

NM_000059.4(BRCA2):c.4496C>T (p.Thr1499Ile)

SNV
Germline

Chr13:32338851

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387781569

rs_2137506990

2 SubmittersRCV002832918 RCV003157257

NM_000059.4(BRCA2):c.4078G>T (p.Asp1360Tyr)

SNV
Germline

Chr13:32338433

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387779171

rs_2548527587

3 SubmittersRCV002828079 RCV003157261

NM_007294.4(BRCA1):c.1962G>C (p.Lys654Asn)

SNV
Germline

Chr17:43093569

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10598093

rs_1597873065

3 SubmittersRCV002825310 RCV003157266

NM_007294.4(BRCA1):c.2175C>G (p.Ser725Arg)

SNV
Germline

Chr17:43093356

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10597652

rs_273898680

2 SubmittersRCV002814487 RCV003157241

NM_007294.4(BRCA1):c.4092C>G (p.Asn1364Lys)

SNV
Germline

Chr17:43091439

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10593774

rs_786201566

3 SubmittersRCV002796316 RCV003157242

NM_000059.4(BRCA2):c.5036C>T (p.Thr1679Ile)

SNV
Germline

Chr13:32339391

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387783993

rs_1593904210

2 SubmittersRCV002810257 RCV003157245

NM_000059.4(BRCA2):c.4329T>G (p.Phe1443Leu)

SNV
Germline

Chr13:32338684

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387780851

rs_2137505221

2 SubmittersRCV002832786 RCV003157253

NM_000059.4(BRCA2):c.1052A>G (p.Lys351Arg)

SNV
Germline

Chr13:32332530

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387761286

rs_1555281710

2 SubmittersRCV002815598 RCV003157254

NM_007294.4(BRCA1):c.2504A>G (p.His835Arg)

SNV
Germline

Chr17:43093027

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
not specified
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10596991

rs_765157365

4 SubmittersRCV002815712 RCV003155494 RCV003157255

NM_007294.4(BRCA1):c.1904A>C (p.Asn635Thr)

SNV
Germline

Chr17:43093627

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10598218

rs_1597873443

2 SubmittersRCV002801751 RCV003157244

NM_000059.4(BRCA2):c.2777C>A (p.Thr926Asn)

SNV
Germline

Chr13:32337132

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387773699

rs_1555282841

3 SubmittersRCV002797113 RCV003157248

NM_000059.4(BRCA2):c.6812A>C (p.Lys2271Thr)

SNV
Germline

Chr13:32341167

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387791396

rs_577406621

2 SubmittersRCV002797177 RCV003157249

NM_000059.4(BRCA2):c.5509T>C (p.Phe1837Leu)

SNV
Germline

Chr13:32339864

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387785832

rs_2137518146

2 SubmittersRCV002819751 RCV003157250

NM_000059.4(BRCA2):c.1331A>G (p.Asn444Ser)

SNV
Germline

Chr13:32332809

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387762682

rs_2072409915

2 SubmittersRCV002833109 RCV003157259

NM_000059.4(BRCA2):c.5252A>G (p.Tyr1751Cys)

SNV
Germline

Chr13:32339607

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA387784706

rs_1341974678

3 SubmittersRCV002825123 RCV003157260 RCV004804513

NM_000059.4(BRCA2):c.5750C>T (p.Ser1917Leu)

SNV
Germline

Chr13:32340105

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387787014

rs_886040609

2 SubmittersRCV002816250 RCV003157264

NM_007294.4(BRCA1):c.3968A>G (p.Gln1323Arg)

SNV
Germline

Chr17:43091563

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10594033

rs_2154273653

2 SubmittersRCV002816301 RCV003157265

NM_000059.4(BRCA2):c.1242G>T (p.Leu414Phe)

SNV
Germline

Chr13:32332720

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387762238

rs_1555281791

2 SubmittersRCV002797050 RCV003157246

NM_007294.4(BRCA1):c.1795A>G (p.Asn599Asp)

SNV
Germline

Chr17:43093736

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10598431

rs_2154422117

2 SubmittersRCV002815254 RCV003157247

NM_000059.4(BRCA2):c.2101T>C (p.Phe701Leu)

SNV
Germline

Chr13:32336456

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387769911

rs_2137483299

2 SubmittersRCV002810696 RCV003157252

NM_000059.4(BRCA2):c.5194C>A (p.Leu1732Ile)

SNV
Germline

Chr13:32339549

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387784580

rs_2137514913

2 SubmittersRCV002820543 RCV003157258

NM_000059.4(BRCA2):c.9499G>A (p.Glu3167Lys)

SNV
Germline

Chr13:32394931

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387761899

rs_2137654624

2 SubmittersRCV002824737 RCV003308297

NM_000059.4(BRCA2):c.4084C>T (p.His1362Tyr)

SNV
Germline

Chr13:32338439

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA387779194

rs_2548527602

3 SubmittersRCV002815909 RCV003157262 RCV003493970

NM_007294.4(BRCA1):c.2456C>A (p.Ser819Tyr)

SNV
Germline

Chr17:43093075

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10597095

rs_192655097

2 SubmittersRCV002842285 RCV003157271

NM_007294.4(BRCA1):c.1943A>G (p.Glu648Gly)

SNV
Germline

Chr17:43093588

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10598137

rs_2053856640

2 SubmittersRCV002812121 RCV003157272

NM_000059.4(BRCA2):c.3087G>A (p.Met1029Ile)

SNV
Germline

Chr13:32337442

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387775246

rs_2137493064

2 SubmittersRCV002829084 RCV003157276

NM_000059.4(BRCA2):c.1544C>A (p.Thr515Asn)

SNV
Germline

Chr13:32333022

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387764640

rs_786202142

2 SubmittersRCV002843240 RCV003157282

NM_007294.4(BRCA1):c.3994G>A (p.Gly1332Arg)

SNV
Germline

Chr17:43091537

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10593974

rs_2053488210

2 SubmittersRCV002843631 RCV003157287

NM_000059.4(BRCA2):c.460C>T (p.Gln154Ter)

SNV
Germline

Chr13:32326135

Pathogenic

Hereditary breast ovarian cancer syndrome

Criteria Provided
Single Submitter

CA387757153

rs_2137449637

1 SubmittersRCV002846846

NM_000059.4(BRCA2):c.2167A>C (p.Ser723Arg)

SNV
Germline

Chr13:32336522

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387770274

rs_2137483874

2 SubmittersRCV002811964 RCV003157268

NM_007294.4(BRCA1):c.3058C>G (p.Pro1020Ala)

SNV
Germline

Chr17:43092473

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10595872

rs_2154344816

2 SubmittersRCV002837971 RCV003157269

NM_000059.4(BRCA2):c.5063A>G (p.Glu1688Gly)

SNV
Germline

Chr13:32339418

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387784045

rs_2137513609

2 SubmittersRCV002837975 RCV003157270

NM_000059.4(BRCA2):c.3646T>A (p.Phe1216Ile)

SNV
Germline

Chr13:32338001

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA387777943

rs_2137498648

3 SubmittersRCV002828683 RCV003157274 RCV006270564

NM_000059.4(BRCA2):c.6128A>C (p.Lys2043Thr)

SNV
Germline

Chr13:32340483

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387788193

rs_2137524571

2 SubmittersRCV002816625 RCV003157275

NM_000059.4(BRCA2):c.1927G>A (p.Val643Met)

SNV
Germline

Chr13:32336282

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387768282

rs_748394046

2 SubmittersRCV002838908 RCV003157281

NM_007294.4(BRCA1):c.3547A>G (p.Lys1183Glu)

SNV
Germline

Chr17:43091984

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10594872

rs_2154304256

3 SubmittersRCV002839422 RCV003157286

NM_007294.4(BRCA1):c.887G>C (p.Arg296Thr)

SNV
Germline

Chr17:43094644

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10600301

rs_2154487072

3 SubmittersRCV002851860 RCV003157289

NM_007294.4(BRCA1):c.895G>C (p.Val299Leu)

SNV
Germline

Chr17:43094636

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10600284

rs_780952576

2 SubmittersRCV002811703 RCV003157267

NM_000059.4(BRCA2):c.2907A>C (p.Gln969His)

SNV
Germline

Chr13:32337262

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387774181

rs_1555282935

3 SubmittersRCV002850936 RCV003157277

NM_007294.4(BRCA1):c.1823A>G (p.Lys608Arg)

SNV
Germline

Chr17:43093708

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10598370

rs_2154419467

2 SubmittersRCV002851281 RCV003157279

NM_000059.4(BRCA2):c.5818G>A (p.Glu1940Lys)

SNV
Germline

Chr13:32340173

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387787273

rs_1566233278

2 SubmittersRCV002838620 RCV003157280

NM_000059.4(BRCA2):c.3328G>A (p.Glu1110Lys)

SNV
Germline

Chr13:32337683

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387776261

rs_1555283173

3 SubmittersRCV002834685 RCV003157283

NM_000059.4(BRCA2):c.6808G>A (p.Gly2270Arg)

SNV
Germline

Chr13:32341163

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387791382

rs_2137530827

3 SubmittersRCV002834686 RCV003157284

NM_000059.4(BRCA2):c.6674C>G (p.Thr2225Arg)

SNV
Germline

Chr13:32341029

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387790538

rs_786203437

2 SubmittersRCV002839228 RCV003157285

NM_000059.4(BRCA2):c.5034A>T (p.Lys1678Asn)

SNV
Germline

Chr13:32339389

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387783989

rs_2137513072

2 SubmittersRCV002842443 RCV003157273

NM_007294.4(BRCA1):c.1945G>A (p.Glu649Lys)

SNV
Germline

Chr17:43093586

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA10598133

rs_80356907

3 SubmittersRCV002851177 RCV003157278 RCV004007631

NM_000059.4(BRCA2):c.3766C>T (p.His1256Tyr)

SNV
Germline

Chr13:32338121

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA387778240

rs_2137499777

3 SubmittersRCV002843867 RCV003157288 RCV005362894

NM_007294.4(BRCA1):c.2453G>T (p.Cys818Phe)

SNV
Germline

Chr17:43093078

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10597101

rs_1567795603

2 SubmittersRCV002866258 RCV003157290

NM_007294.4(BRCA1):c.421G>T (p.Glu141Ter)

SNV
Germline

Chr17:43104142

Pathogenic

Hereditary breast ovarian cancer syndrome

Criteria Provided
Single Submitter

CA10601303

rs_2154548776

1 SubmittersRCV002880315

NM_007294.4(BRCA1):c.3220A>T (p.Arg1074Ter)

SNV
Germline

Chr17:43092311

Pathogenic

Hereditary breast ovarian cancer syndrome

Criteria Provided
Single Submitter

CA10595542

rs_80357263

1 SubmittersRCV002885053

NM_007294.4(BRCA1):c.4359A>C (p.Ala1453=)

SNV
Germline

Chr17:43076613

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 1
not specified

Criteria Provided
Conflicting Classifications

CA10592825

rs_2154073985

5 SubmittersRCV002848395 RCV005522741 RCV003477025 RCV003464623 RCV005239520

NM_000059.4(BRCA2):c.1004A>T (p.Glu335Val)

SNV
Germline

Chr13:32332482

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387761069

rs_1566222581

2 SubmittersRCV002926697 RCV003157298

NM_007294.4(BRCA1):c.3176A>G (p.Asn1059Ser)

SNV
Germline

Chr17:43092355

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10595634

rs_1427847949

3 SubmittersRCV002885838 RCV003157291

NM_000059.4(BRCA2):c.1288G>C (p.Asp430His)

SNV
Germline

Chr13:32332766

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387762461

rs_2137469625

2 SubmittersRCV002900287 RCV003157297

NM_000059.4(BRCA2):c.3394A>T (p.Lys1132Ter)

SNV
Germline

Chr13:32337749

Pathogenic

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Multiple Submitters
No Conflicts

CA387776459

rs_2137496133

2 SubmittersRCV002885236 RCV004065020

NM_000059.4(BRCA2):c.5524C>G (p.Pro1842Ala)

SNV
Germline

Chr13:32339879

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387785890

rs_2072531201

3 SubmittersRCV002895087 RCV004007659 RCV003157292

NM_000059.4(BRCA2):c.2264C>A (p.Ser755Tyr)

SNV
Germline

Chr13:32336619

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387771032

rs_876659060

3 SubmittersRCV002912465 RCV003157293

NM_000059.4(BRCA2):c.5524C>T (p.Pro1842Ser)

SNV
Germline

Chr13:32339879

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA387785892

rs_2072531201

5 SubmittersRCV002903345 RCV003157294 RCV005362908

NM_000059.4(BRCA2):c.2054A>G (p.Asp685Gly)

SNV
Germline

Chr13:32336409

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387768986

rs_1555282420

2 SubmittersRCV002903352 RCV003157295

NM_000059.4(BRCA2):c.6594A>C (p.Glu2198Asp)

SNV
Germline

Chr13:32340949

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387790045

rs_2137528895

2 SubmittersRCV002913240 RCV003157296

NM_007294.4(BRCA1):c.3142G>T (p.Gly1048Cys)

SNV
Germline

Chr17:43092389

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10595696

rs_2154340384

2 SubmittersRCV002914339 RCV003157300

NM_000059.4(BRCA2):c.2688T>G (p.Asn896Lys)

SNV
Germline

Chr13:32337043

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387773448

rs_769652613

2 SubmittersRCV002922668 RCV003157301

NM_007294.4(BRCA1):c.2413T>G (p.Cys805Gly)

SNV
Germline

Chr17:43093118

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10597182

rs_397508966

2 SubmittersRCV002919141 RCV003157302

NM_000059.4(BRCA2):c.8170G>A (p.Gly2724Arg)

SNV
Germline

Chr13:32363372

Likely pathogenic

Hereditary breast ovarian cancer syndrome

Criteria Provided
Single Submitter

CA387749597

rs_1057521184

1 SubmittersRCV002952374

NM_000059.4(BRCA2):c.517-14T>G

SNV
Germline

Chr13:32326485

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA609453824

rs_1215926483

2 SubmittersRCV002918631 RCV003585316

NM_000059.4(BRCA2):c.5956G>A (p.Val1986Ile)

SNV
Germline

Chr13:32340311

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387787599

rs_2137522671

2 SubmittersRCV002937209 RCV003157299

NM_007294.4(BRCA1):c.3133A>G (p.Asn1045Asp)

SNV
Germline

Chr17:43092398

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10595718

rs_2154340841

3 SubmittersRCV002909946 RCV003157303

NM_000059.4(BRCA2):c.8570C>T (p.Ala2857Val)

SNV
Germline

Chr13:32371038

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA6941260

rs_748143090

2 SubmittersRCV002914013 RCV004603250

NM_000059.4(BRCA2):c.6361G>T (p.Glu2121Ter)

SNV
Germline

Chr13:32340716

Pathogenic

Hereditary breast ovarian cancer syndrome

Criteria Provided
Single Submitter

CA387789147

rs_587782183

1 SubmittersRCV002923299

NM_000059.4(BRCA2):c.4666A>G (p.Ile1556Val)

SNV
Germline

Chr13:32339021

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387782767

rs_2137508843

2 SubmittersRCV002952772 RCV003157304

NM_007294.4(BRCA1):c.1645A>T (p.Thr549Ser)

SNV
Germline

Chr17:43093886

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10598744

rs_2552200744

2 SubmittersRCV003157305 RCV002952785

NM_007294.4(BRCA1):c.3616G>A (p.Ala1206Thr)

SNV
Germline

Chr17:43091915

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10594738

rs_1555587407

2 SubmittersRCV002962872 RCV003157844

NM_000059.4(BRCA2):c.2288A>G (p.His763Arg)

SNV
Germline

Chr13:32336643

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387771203

rs_2137485057

3 SubmittersRCV002942908 RCV003157835

NM_007294.4(BRCA1):c.2988A>T (p.Lys996Asn)

SNV
Germline

Chr17:43092543

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10596020

rs_2154348785

2 SubmittersRCV003157836 RCV002952875

NM_007294.4(BRCA1):c.1562C>T (p.Ala521Val)

SNV
Germline

Chr17:43093969

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA10598918

rs_2154436230

3 SubmittersRCV002954406 RCV003157841 RCV003483902

NM_000059.4(BRCA2):c.6299A>G (p.Gln2100Arg)

SNV
Germline

Chr13:32340654

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA6940942

rs_770539957

3 SubmittersRCV002962461 RCV003157843 RCV005601970

NM_000059.4(BRCA2):c.5486T>A (p.Leu1829Ter)

SNV
Germline

Chr13:32339841

Pathogenic

Hereditary breast ovarian cancer syndrome

Criteria Provided
Single Submitter

CA387785743

rs_2072530512

1 SubmittersRCV002962515

NM_000059.4(BRCA2):c.4142A>G (p.Lys1381Arg)

SNV
Germline

Chr13:32338497

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387779422

rs_2072497365

2 SubmittersRCV002963217 RCV003157845

NM_007294.4(BRCA1):c.2510T>A (p.Val837Asp)

SNV
Germline

Chr17:43093021

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10596976

rs_2154373500

2 SubmittersRCV002982372 RCV003157846

NM_007294.4(BRCA1):c.2603C>T (p.Ser868Leu)

SNV
Germline

Chr17:43092928

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10596788

rs_80356925

2 SubmittersRCV003157306 RCV002942629

NM_007294.4(BRCA1):c.2408G>A (p.Ser803Asn)

SNV
Germline

Chr17:43093123

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10597193

rs_2053765918

2 SubmittersRCV002928804 RCV003157837

NM_007294.4(BRCA1):c.1459G>A (p.Val487Ile)

SNV
Germline

Chr17:43094072

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10599127

rs_369588942

3 SubmittersRCV002953415 RCV003157838

NM_007294.4(BRCA1):c.2804A>G (p.Lys935Arg)

SNV
Germline

Chr17:43092727

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10596388

rs_2154358704

2 SubmittersRCV002948879 RCV003157839

NM_007294.4(BRCA1):c.1214C>T (p.Ser405Leu)

SNV
Germline

Chr17:43094317

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10599622

rs_80357481

3 SubmittersRCV002966078 RCV003157840

NM_007294.4(BRCA1):c.1665T>G (p.Asn555Lys)

SNV
Germline

Chr17:43093866

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10598703

rs_2154431329

2 SubmittersRCV002959217 RCV003157842

NM_000059.4(BRCA2):c.1358C>T (p.Pro453Leu)

SNV
Germline

Chr13:32332836

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387762822

rs_754587041

2 SubmittersRCV003009587 RCV003157854

NM_000059.4(BRCA2):c.4186C>T (p.Gln1396Ter)

SNV
Germline

Chr13:32338541

Pathogenic

Hereditary breast ovarian cancer syndrome

Criteria Provided
Single Submitter

CA387780145

rs_776286311

1 SubmittersRCV003017796

NM_000059.4(BRCA2):c.2650T>C (p.Ser884Pro)

SNV
Germline

Chr13:32337005

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387773298

rs_1555282771

2 SubmittersRCV003009569 RCV003157853

NM_000059.4(BRCA2):c.3125T>G (p.Leu1042Ter)

SNV
Germline

Chr13:32337480

Pathogenic

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Multiple Submitters
No Conflicts

CA387775713

rs_1593898642

3 SubmittersRCV002988609 RCV005248897

NM_000059.4(BRCA2):c.6110A>G (p.Glu2037Gly)

SNV
Germline

Chr13:32340465

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387788125

rs_2137524392

2 SubmittersRCV002995539 RCV003157847

NM_000059.4(BRCA2):c.6746C>G (p.Ala2249Gly)

SNV
Germline

Chr13:32341101

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387791125

rs_2072564276

2 SubmittersRCV003011397 RCV003157850

NM_000059.4(BRCA2):c.3222T>A (p.Ser1074Arg)

SNV
Germline

Chr13:32337577

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387775904

rs_1555283109

2 SubmittersRCV002996060 RCV003157851

NM_000059.4(BRCA2):c.5436A>C (p.Glu1812Asp)

SNV
Germline

Chr13:32339791

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA6940870

rs_754090538

2 SubmittersRCV003011488 RCV003157852

NM_007294.4(BRCA1):c.2132A>C (p.Lys711Thr)

SNV
Germline

Chr17:43093399

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10597742

rs_2154397653

2 SubmittersRCV002999481 RCV003157848

NM_000059.4(BRCA2):c.1252T>G (p.Ser418Ala)

SNV
Germline

Chr13:32332730

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387762284

rs_2072407631

2 SubmittersRCV002994797 RCV003157849

NM_000059.4(BRCA2):c.823A>G (p.Lys275Glu)

SNV
Germline

Chr13:32332301

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387760432

rs_2137465051

2 SubmittersRCV003005555 RCV003157860

NM_000059.4(BRCA2):c.370A>G (p.Met124Val)

SNV
Germline

Chr13:32325129

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387756631

rs_397507314

2 SubmittersRCV003005570 RCV004948881

NM_007294.4(BRCA1):c.1019T>C (p.Val340Ala)

SNV
Germline

Chr17:43094512

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10600020

rs_1597878539

3 SubmittersRCV003007924 RCV004007766 RCV003157861

NM_000059.4(BRCA2):c.1519A>T (p.Arg507Ter)

SNV
Germline

Chr13:32332997

Pathogenic

Hereditary breast ovarian cancer syndrome

Criteria Provided
Single Submitter

CA387764551

rs_2137472312

1 SubmittersRCV002996619

NM_000059.4(BRCA2):c.3316A>G (p.Ser1106Gly)

SNV
Germline

Chr13:32337671

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387776219

rs_2137495384

2 SubmittersRCV003008325 RCV003157864

NM_007294.4(BRCA1):c.3299G>C (p.Gly1100Ala)

SNV
Germline

Chr17:43092232

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10595390

rs_2154330690

2 SubmittersRCV003019106 RCV003157868

NM_007294.4(BRCA1):c.1287A>G (p.Ile429Met)

SNV
Germline

Chr17:43094244

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10599481

rs_2552218030

2 SubmittersRCV003016888 RCV003157873

NM_000059.4(BRCA2):c.2647T>C (p.Phe883Leu)

SNV
Germline

Chr13:32337002

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387773284

rs_2548524401

2 SubmittersRCV003018258 RCV003157857

NM_007294.4(BRCA1):c.1684A>C (p.Ile562Leu)

SNV
Germline

Chr17:43093847

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10598664

rs_1567798727

2 SubmittersRCV003020397 RCV003157858

NM_000059.4(BRCA2):c.5032A>G (p.Lys1678Glu)

SNV
Germline

Chr13:32339387

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA387783984

rs_2137513035

3 SubmittersRCV003003088 RCV003157859 RCV004007761

NM_007294.4(BRCA1):c.1043G>T (p.Cys348Phe)

SNV
Germline

Chr17:43094488

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA056990

rs_752198747

2 SubmittersRCV003018289 RCV003157863

NM_000059.4(BRCA2):c.2279T>C (p.Leu760Ser)

SNV
Germline

Chr13:32336634

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA6940592

rs_757410810

3 SubmittersRCV003021223 RCV003157865

NM_000059.4(BRCA2):c.4811T>C (p.Leu1604Pro)

SNV
Germline

Chr13:32339166

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387783281

rs_2137510510

2 SubmittersRCV003018996 RCV003157867

NM_007294.4(BRCA1):c.2081G>C (p.Ser694Thr)

SNV
Germline

Chr17:43093450

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10597840

rs_431825388

2 SubmittersRCV003022928 RCV003157871

NM_000059.4(BRCA2):c.6248T>C (p.Phe2083Ser)

SNV
Germline

Chr13:32340603

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA6940939

rs_774522471

4 SubmittersRCV003002900 RCV003157856 RCV004007759

NM_000059.4(BRCA2):c.3115C>T (p.Pro1039Ser)

SNV
Germline

Chr13:32337470

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387775458

rs_2137493358

2 SubmittersRCV003031114 RCV003157870

NM_000059.4(BRCA2):c.92G>C (p.Trp31Ser)

SNV
Germline

Chr13:32319101

Likely pathogenic

Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA387754108

rs_397508045

2 SubmittersRCV003031127 RCV003138442

NM_000059.4(BRCA2):c.5443A>G (p.Thr1815Ala)

SNV
Germline

Chr13:32339798

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387785550

rs_2072529538

3 SubmittersRCV003014404 RCV003157872

NM_007294.4(BRCA1):c.3296C>G (p.Pro1099Arg)

SNV
Germline

Chr17:43092235

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10595395

rs_80357201

2 SubmittersRCV003009807 RCV003157855

NM_000059.4(BRCA2):c.4103T>C (p.Leu1368Ser)

SNV
Germline

Chr13:32338458

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387779266

rs_2137502944

2 SubmittersRCV003015742 RCV003157862

NM_000059.4(BRCA2):c.373G>A (p.Asp125Asn)

SNV
Germline

Chr13:32325132

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387756638

rs_2137446511

2 SubmittersRCV003018676 RCV006377830

NM_000059.4(BRCA2):c.4561C>A (p.Leu1521Ile)

SNV
Germline

Chr13:32338916

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387781825

rs_370723514

2 SubmittersRCV003016399 RCV003157866

NM_000059.4(BRCA2):c.5460C>A (p.Cys1820Ter)

SNV
Germline

Chr13:32339815

Pathogenic

Hereditary breast ovarian cancer syndrome

Criteria Provided
Single Submitter

CA387785636

rs_758869410

1 SubmittersRCV003030848

NM_000059.4(BRCA2):c.6122C>T (p.Ser2041Phe)

SNV
Germline

Chr13:32340477

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387788173

rs_2137524491

2 SubmittersRCV003030855 RCV003157869

NM_000059.4(BRCA2):c.5918A>T (p.Asn1973Ile)

SNV
Germline

Chr13:32340273

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387787528

rs_2137522283

2 SubmittersRCV003019860 RCV003157875

NM_000059.4(BRCA2):c.1384G>C (p.Glu462Gln)

SNV
Germline

Chr13:32332862

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387763026

rs_1593892698

2 SubmittersRCV003041843 RCV003157877

NM_000059.4(BRCA2):c.5473G>A (p.Ala1825Thr)

SNV
Germline

Chr13:32339828

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387785688

rs_745522949

3 SubmittersRCV003014850 RCV003157878

NM_000059.4(BRCA2):c.1379A>T (p.Asn460Ile)

SNV
Germline

Chr13:32332857

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA387762970

rs_777093572

4 SubmittersRCV003015176 RCV003157881 RCV005254669

NM_000059.4(BRCA2):c.2237T>C (p.Val746Ala)

SNV
Germline

Chr13:32336592

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387770806

rs_2548523459

2 SubmittersRCV003029473 RCV003157883

NM_000059.4(BRCA2):c.4554A>C (p.Glu1518Asp)

SNV
Germline

Chr13:32338909

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387781806

rs_200185407

2 SubmittersRCV003017649 RCV003157884

NM_000059.4(BRCA2):c.1591A>T (p.Lys531Ter)

SNV
Germline

Chr13:32333069

Pathogenic

Hereditary breast ovarian cancer syndrome

Criteria Provided
Single Submitter

CA387764799

rs_876659050

1 SubmittersRCV003017650

NM_007294.4(BRCA1):c.2212G>C (p.Val738Leu)

SNV
Germline

Chr17:43093319

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10597573

rs_2154392681

2 SubmittersRCV003029501 RCV003157885

NM_007294.4(BRCA1):c.2006T>A (p.Met669Lys)

SNV
Germline

Chr17:43093525

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10598001

rs_80356895

2 SubmittersRCV003029502 RCV003157886

NM_000059.4(BRCA2):c.5799C>G (p.Asn1933Lys)

SNV
Germline

Chr13:32340154

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387787207

rs_2137521087

2 SubmittersRCV003034228 RCV003157887

NM_000059.4(BRCA2):c.4729G>A (p.Glu1577Lys)

SNV
Germline

Chr13:32339084

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387783003

rs_878853586

2 SubmittersRCV003042266 RCV003157892

NM_000059.4(BRCA2):c.6067G>A (p.Asp2023Asn)

SNV
Germline

Chr13:32340422

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387787949

rs_1478738690

2 SubmittersRCV003024028 RCV003157897

NM_000059.4(BRCA2):c.5607T>A (p.Ser1869Arg)

SNV
Germline

Chr13:32339962

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387786075

rs_2137519078

2 SubmittersRCV003034338 RCV003157898

NM_000059.4(BRCA2):c.4940C>G (p.Thr1647Arg)

SNV
Germline

Chr13:32339295

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387783709

rs_1593903891

2 SubmittersRCV003034357 RCV003157899

NM_000059.4(BRCA2):c.2920G>C (p.Asp974His)

SNV
Germline

Chr13:32337275

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387774207

rs_539613324

2 SubmittersRCV003032652 RCV003157905

NM_000059.4(BRCA2):c.6350G>A (p.Cys2117Tyr)

SNV
Germline

Chr13:32340705

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387789124

rs_2072553110

2 SubmittersRCV003046484 RCV003157906

NM_007294.4(BRCA1):c.3151A>C (p.Thr1051Pro)

SNV
Germline

Chr17:43092380

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10595680

rs_398122671

2 SubmittersRCV003022661 RCV003157896

NM_007294.4(BRCA1):c.4040G>T (p.Arg1347Ile)

SNV
Germline

Chr17:43091491

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10593878

rs_80357210

2 SubmittersRCV003038641 RCV003157901

NM_000059.4(BRCA2):c.4916T>C (p.Val1639Ala)

SNV
Germline

Chr13:32339271

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387783607

rs_2137511622

2 SubmittersRCV003027191 RCV003157902

NM_007294.4(BRCA1):c.2924A>G (p.Gln975Arg)

SNV
Germline

Chr17:43092607

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10596148

rs_2154352222

3 SubmittersRCV003027238 RCV003157903 RCV005242295

NM_000059.4(BRCA2):c.2680G>T (p.Val894Leu)

SNV
Germline

Chr13:32337035

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387773421

rs_28897715

2 SubmittersRCV003042012 RCV003157880

NM_000059.4(BRCA2):c.4092A>G (p.Ile1364Met)

SNV
Germline

Chr13:32338447

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387779225

rs_2137502823

2 SubmittersRCV003029227 RCV003157882

NM_000059.4(BRCA2):c.2597A>G (p.Glu866Gly)

SNV
Germline

Chr13:32336952

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA387772623

rs_1555282752

3 SubmittersRCV003020009 RCV003157891 RCV004798019

NM_007294.4(BRCA1):c.4004T>A (p.Leu1335Gln)

SNV
Germline

Chr17:43091527

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10593955

rs_2154270099

2 SubmittersRCV003045788 RCV003157895

NM_000059.4(BRCA2):c.4573C>T (p.His1525Tyr)

SNV
Germline

Chr13:32338928

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387781874

rs_2137507836

2 SubmittersRCV003026985 RCV003157900

NM_000059.4(BRCA2):c.4496C>G (p.Thr1499Ser)

SNV
Germline

Chr13:32338851

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387781568

rs_2137506990

3 SubmittersRCV003030108 RCV003157904

NM_000059.4(BRCA2):c.6440A>G (p.His2147Arg)

SNV
Germline

Chr13:32340795

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
BRCA2-related cancer predisposition
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 2
not specified

Criteria Provided
Conflicting Classifications

CA387789311

rs_2072555628

7 SubmittersRCV003017061 RCV005429402 RCV003157874 RCV004804535 RCV005356243 RCV005406560

NM_007294.4(BRCA1):c.1619A>G (p.Glu540Gly)

SNV
Germline

Chr17:43093912

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10598805

rs_1375255651

2 SubmittersRCV003037938 RCV003157876

NM_007294.4(BRCA1):c.2975C>T (p.Thr992Ile)

SNV
Germline

Chr17:43092556

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10596048

rs_2552178911

2 SubmittersRCV003041976 RCV003157879

NM_000059.4(BRCA2):c.3992C>G (p.Ser1331Cys)

SNV
Germline

Chr13:32338347

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387778977

rs_2137501864

2 SubmittersRCV003038107 RCV003157888

NM_007294.4(BRCA1):c.1300A>T (p.Ser434Cys)

SNV
Germline

Chr17:43094231

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10599455

rs_786203753

2 SubmittersRCV003031744 RCV003157889

NM_007294.4(BRCA1):c.2409T>A (p.Ser803Arg)

SNV
Germline

Chr17:43093122

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10597190

rs_1555589731

2 SubmittersRCV003038144 RCV003157890

NM_000059.4(BRCA2):c.5698T>C (p.Ser1900Pro)

SNV
Germline

Chr13:32340053

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387786709

rs_2137520013

2 SubmittersRCV003020302 RCV003157893

NM_007294.4(BRCA1):c.772C>T (p.Pro258Ser)

SNV
Germline

Chr17:43094759

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10600536

rs_2154493277

2 SubmittersRCV003020305 RCV003157894

NM_000059.4(BRCA2):c.4247A>G (p.Gln1416Arg)

SNV
Germline

Chr13:32338602

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA387780419

rs_2072499770

4 SubmittersRCV003025199 RCV003157916 RCV004804541

NM_000059.4(BRCA2):c.4031A>G (p.Asn1344Ser)

SNV
Germline

Chr13:32338386

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified
Familial prostate cancer

Criteria Provided
Conflicting Classifications

CA387779066

rs_1593901214

6 SubmittersRCV003046823 RCV003157919 RCV003151436 RCV005356246

NM_000059.4(BRCA2):c.2297C>T (p.Ala766Val)

SNV
Germline

Chr13:32336652

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387771274

rs_2072454625

2 SubmittersRCV003035702 RCV003157921

NM_000059.4(BRCA2):c.206C>T (p.Pro69Leu)

SNV
Germline

Chr13:32319215

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387754417

rs_2138704833

2 SubmittersRCV003057824 RCV005308900

NM_000059.4(BRCA2):c.1313A>G (p.Asp438Gly)

SNV
Germline

Chr13:32332791

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387762623

rs_2137470041

3 SubmittersRCV003040288 RCV003477038 RCV003157935

NM_007294.4(BRCA1):c.1119A>G (p.Ile373Met)

SNV
Germline

Chr17:43094412

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA10599818

rs_2154475077

4 SubmittersRCV003030394 RCV003157908 RCV003607559

NM_000059.4(BRCA2):c.3662C>G (p.Ser1221Cys)

SNV
Germline

Chr13:32338017

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387777977

rs_397507313

2 SubmittersRCV003030411 RCV003157909

NM_007294.4(BRCA1):c.863G>A (p.Ser288Asn)

SNV
Germline

Chr17:43094668

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10600353

rs_2154488628

3 SubmittersRCV003030454 RCV003157910

NM_000059.4(BRCA2):c.2816C>T (p.Thr939Ile)

SNV
Germline

Chr13:32337171

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387773778

rs_1555282879

2 SubmittersRCV003039536 RCV003157911

NM_000059.4(BRCA2):c.5846A>C (p.Asp1949Ala)

SNV
Germline

Chr13:32340201

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387787376

rs_431825336

2 SubmittersRCV003024944 RCV003157914

NM_000059.4(BRCA2):c.5235G>A (p.Met1745Ile)

SNV
Germline

Chr13:32339590

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387784668

rs_2137515425

3 SubmittersRCV003059276 RCV003157915

NM_000059.4(BRCA2):c.8660C>A (p.Ser2887Ter)

SNV
Germline

Chr13:32376697

Pathogenic

Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA387754716

rs_2072874696

2 SubmittersRCV003043348 RCV004719285

NM_007294.4(BRCA1):c.1117A>C (p.Ile373Leu)

SNV
Germline/somatic

Chr17:43094414

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Neoplasm
not specified

Criteria Provided
Conflicting Classifications

CA10599823

rs_373218165

3 SubmittersRCV003035349 RCV003157920 RCV004673778 RCV006274389

NM_000059.4(BRCA2):c.5420A>T (p.Asp1807Val)

SNV
Germline

Chr13:32339775

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387785419

rs_2137517375

2 SubmittersRCV003049462 RCV003157924

NM_000059.4(BRCA2):c.6608T>A (p.Val2203Asp)

SNV
Germline

Chr13:32340963

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387790139

rs_2137529004

3 SubmittersRCV003040056 RCV003157925

NM_000059.4(BRCA2):c.3982A>G (p.Ser1328Gly)

SNV
Germline

Chr13:32338337

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387778957

rs_1566229480

2 SubmittersRCV003040065 RCV003157926

NM_000059.4(BRCA2):c.2537C>T (p.Ser846Leu)

SNV
Germline

Chr13:32336892

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387772498

rs_80358518

2 SubmittersRCV003049538 RCV003157927

NM_000059.4(BRCA2):c.1744A>T (p.Thr582Ser)

SNV
Germline

Chr13:32333222

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387765460

rs_80358457

2 SubmittersRCV003049540 RCV003157928

NM_007294.4(BRCA1):c.814G>A (p.Glu272Lys)

SNV
Germline

Chr17:43094717

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Melanoma

Criteria Provided
Conflicting Classifications

CA10600456

rs_886040321

3 SubmittersRCV003057755 RCV003157934 RCV005930297

NM_000059.4(BRCA2):c.-40+1G>T

SNV
Germline

Chr13:32315668

Likely pathogenic

Hereditary breast ovarian cancer syndrome
BRCA2-related disorder

Criteria Provided
Single Submitter

CA2580086914

rs_2072249096

2 SubmittersRCV003024512 RCV004725472

NM_000059.4(BRCA2):c.964A>G (p.Lys322Glu)

SNV
Germline

Chr13:32332442

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387760894

rs_11571640

2 SubmittersRCV003027863 RCV003157907

NM_000059.4(BRCA2):c.6658G>A (p.Glu2220Lys)

SNV
Germline

Chr13:32341013

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387790434

rs_2137529502

2 SubmittersRCV003054782 RCV003157913

NM_007294.4(BRCA1):c.3763A>G (p.Asn1255Asp)

SNV
Germline

Chr17:43091768

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10594448

rs_2154289498

2 SubmittersRCV003027937 RCV003157917

NM_000059.4(BRCA2):c.3847G>C (p.Val1283Leu)

SNV
Germline

Chr13:32338202

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387778599

rs_754974533

2 SubmittersRCV003049072 RCV003157918

NM_007294.4(BRCA1):c.4382G>A (p.Ser1461Asn)

SNV
Germline

Chr17:43076590

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10592775

rs_1555582692

3 SubmittersRCV003057355 RCV004603275 RCV003477036

NM_007294.4(BRCA1):c.3731A>T (p.His1244Leu)

SNV
Germline

Chr17:43091800

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10594505

rs_2154292030

3 SubmittersRCV003036252 RCV003157932

NM_007294.4(BRCA1):c.2239C>A (p.Pro747Thr)

SNV
Germline

Chr17:43093292

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10597522

rs_1555590087

3 SubmittersRCV003036253 RCV003157933

NM_000059.4(BRCA2):c.6241G>C (p.Glu2081Gln)

SNV
Germline

Chr13:32340596

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387788908

rs_2137525578

2 SubmittersRCV003054557 RCV003157912

NM_007294.4(BRCA1):c.2053A>G (p.Asn685Asp)

SNV
Germline

Chr17:43093478

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10597899

rs_2154401935

2 SubmittersRCV003039642 RCV003157922

NM_000059.4(BRCA2):c.6312A>C (p.Lys2104Asn)

SNV
Germline

Chr13:32340667

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387789049

rs_2548533023

2 SubmittersRCV003039663 RCV003157923

NM_000059.4(BRCA2):c.6438T>A (p.Asn2146Lys)

SNV
Germline

Chr13:32340793

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387789307

rs_1555284698

2 SubmittersRCV003043975 RCV003157930

NM_000059.4(BRCA2):c.632-5T>C

SNV
Germline

Chr13:32329438

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA2580087047

rs_2548516947

2 SubmittersRCV003051526 RCV004948927

NM_007294.4(BRCA1):c.973A>G (p.Lys325Glu)

SNV
Germline

Chr17:43094558

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10600116

rs_2552225974

2 SubmittersRCV003157931 RCV003051532

NM_007294.4(BRCA1):c.745A>G (p.Thr249Ala)

SNV
Germline

Chr17:43094786

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10600594

rs_397507256

2 SubmittersRCV003061827 RCV003157940

NM_007294.4(BRCA1):c.1616C>G (p.Thr539Arg)

SNV
Germline

Chr17:43093915

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10598808

rs_80357374

2 SubmittersRCV003036771 RCV003157949

NM_000059.4(BRCA2):c.1118A>G (p.Gln373Arg)

SNV
Germline

Chr13:32332596

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387761651

rs_2137467818

2 SubmittersRCV003044887 RCV003157953

NM_000059.4(BRCA2):c.5815T>A (p.Leu1939Met)

SNV
Germline

Chr13:32340170

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387787262

rs_1171546018

2 SubmittersRCV003065855 RCV003157954

NM_000059.4(BRCA2):c.6373A>T (p.Thr2125Ser)

SNV
Germline

Chr13:32340728

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387789178

rs_2137526815

3 SubmittersRCV003048784 RCV003157957

NM_007294.4(BRCA1):c.2866T>C (p.Ser956Pro)

SNV
Germline

Chr17:43092665

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified

Criteria Provided
Conflicting Classifications

CA10596255

rs_1468065357

3 SubmittersRCV003044589 RCV003157939 RCV004700902

NM_000059.4(BRCA2):c.6244G>A (p.Glu2082Lys)

SNV
Germline

Chr13:32340599

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387788915

rs_886040642

2 SubmittersRCV003052566 RCV003157947

NM_000059.4(BRCA2):c.2627A>T (p.Asn876Ile)

SNV
Germline

Chr13:32336982

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387773218

rs_997313713

3 SubmittersRCV003036501 RCV006259382 RCV003157948

NM_000059.4(BRCA2):c.8331+1G>C

SNV
Germline

Chr13:32363534

Pathogenic

Hereditary breast ovarian cancer syndrome

Criteria Provided
Single Submitter

CA387750311

rs_81002837

1 SubmittersRCV003041047

NM_007294.4(BRCA1):c.2655C>A (p.Phe885Leu)

SNV
Germline

Chr17:43092876

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10596684

rs_2552185651

2 SubmittersRCV003064166 RCV003157952

NM_007294.4(BRCA1):c.5498T>G (p.Val1833Gly)

SNV
Germline

Chr17:43045772

Likely pathogenic

Hereditary breast ovarian cancer syndrome

Criteria Provided
Single Submitter

CA10590311

rs_587782340

1 SubmittersRCV003059713

NM_000059.4(BRCA2):c.4384T>A (p.Leu1462Ile)

SNV
Germline

Chr13:32338739

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387781062

rs_1593902198

2 SubmittersRCV003050214 RCV003157937

NM_000059.4(BRCA2):c.7868A>C (p.His2623Pro)

SNV
Germline

Chr13:32362585

Likely pathogenic

Hereditary breast ovarian cancer syndrome

Criteria Provided
Single Submitter

CA387747086

rs_80359012

1 SubmittersRCV003044395

NM_000059.4(BRCA2):c.3837T>G (p.Asn1279Lys)

SNV
Germline

Chr13:32338192

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387778561

rs_1555283421

3 SubmittersRCV003050356 RCV003157938

NM_007294.4(BRCA1):c.1357G>T (p.Glu453Ter)

SNV
Germline

Chr17:43094174

Pathogenic

Hereditary breast ovarian cancer syndrome

Criteria Provided
Single Submitter

CA10599337

rs_768054411

1 SubmittersRCV003061975

NM_000059.4(BRCA2):c.1130A>C (p.Glu377Ala)

SNV
Germline

Chr13:32332608

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387761723

rs_2137467921

2 SubmittersRCV003052481 RCV003157942

NM_007294.4(BRCA1):c.916A>G (p.Asn306Asp)

SNV
Germline

Chr17:43094615

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
not specified
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10600239

rs_1264744701

3 SubmittersRCV003048285 RCV006460382 RCV003157943

NM_000059.4(BRCA2):c.3440A>T (p.Asn1147Ile)

SNV
Germline

Chr13:32337795

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387776620

rs_1799951

2 SubmittersRCV003052500 RCV003157944

NM_007294.4(BRCA1):c.2456C>T (p.Ser819Phe)

SNV
Germline

Chr17:43093075

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10597094

rs_192655097

2 SubmittersRCV003157945 RCV003062056

NM_007294.4(BRCA1):c.2939T>C (p.Ile980Thr)

SNV
Germline

Chr17:43092592

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10596119

rs_1567793505

2 SubmittersRCV003052558 RCV003157946

NM_000059.4(BRCA2):c.983C>G (p.Thr328Ser)

SNV
Germline

Chr13:32332461

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387760965

rs_2137466544

2 SubmittersRCV003040877 RCV003157951

NM_007294.4(BRCA1):c.3184G>T (p.Gly1062Cys)

SNV
Germline

Chr17:43092347

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10595617

rs_1567792594

2 SubmittersRCV003050061 RCV003157936

NM_007294.4(BRCA1):c.3701T>G (p.Val1234Gly)

SNV
Germline

Chr17:43091830

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10594561

rs_2154293887

2 SubmittersRCV003061939 RCV003157941

NM_000059.4(BRCA2):c.6820G>C (p.Gly2274Arg)

SNV
Germline

Chr13:32341175

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387791433

rs_2137530916

2 SubmittersRCV003040812 RCV003157950

NM_000059.4(BRCA2):c.2078G>T (p.Cys693Phe)

SNV
Germline

Chr13:32336433

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387769103

rs_771226774

2 SubmittersRCV003045056 RCV003157955

NM_007294.4(BRCA1):c.905C>A (p.Ala302Asp)

SNV
Germline

Chr17:43094626

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10600265

rs_1418676444

2 SubmittersRCV003058189 RCV003157956

NM_000059.4(BRCA2):c.7171G>T (p.Glu2391Ter)

SNV
Germline

Chr13:32355024

Likely pathogenic

Hereditary breast ovarian cancer syndrome

Criteria Provided
Single Submitter

CA387739504

rs_2137556567

1 SubmittersRCV003123490

NM_000059.4(BRCA2):c.9545A>C (p.His3182Pro)

SNV
Germline

Chr13:32396941

Conflicting classifications of pathogenicity

Ovarian cancer
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387763163

rs_1566260129

3 SubmittersRCV003154730 RCV003530281 RCV004246185

NM_000059.4(BRCA2):c.8822A>C (p.Gln2941Pro)

SNV
Germline

Chr13:32379384

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387756126

rs_779091957

2 SubmittersRCV003187248 RCV003779519

NM_000059.4(BRCA2):c.8627A>G (p.His2876Arg)

SNV
Germline

Chr13:32371095

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387753007

rs_1060502470

2 SubmittersRCV003300661 RCV003530292

NM_000059.4(BRCA2):c.6591T>G (p.Thr2197=)

SNV
Germline

Chr13:32340946

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA483439254

rs_2548533669

3 SubmittersRCV003293405 RCV003477076 RCV003645346

NM_000059.4(BRCA2):c.1979C>G (p.Thr660Ser)

SNV
Germline

Chr13:32336334

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA6940571

rs_762591130

2 SubmittersRCV003302159 RCV005102767

NM_007294.4(BRCA1):c.2963C>G (p.Ser988Ter)

SNV
Germline

Chr17:43092568

Pathogenic

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA10596071

rs_397507206

2 SubmittersRCV003301825 RCV003645344

NM_007294.4(BRCA1):c.5497G>T (p.Val1833Leu)

SNV
Germline

Chr17:43045773

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10590313

rs_80357268

3 SubmittersRCV003288413 RCV003530293 RCV003738422

NM_024675.4(PALB2):c.874C>T (p.Gln292Ter)

SNV
Germline

Chr16:23635672

Pathogenic

Hereditary breast ovarian cancer syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA395135773

rs_1335897946

3 SubmittersRCV003317953 RCV003455798

NM_000059.4(BRCA2):c.7384T>C (p.Ser2462Pro)

SNV
Germline

Chr13:32355237

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome
BRCA2-related cancer predisposition
Hereditary breast ovarian cancer syndrome
not specified

Criteria Provided
Conflicting Classifications

CA387741731

rs_1593918545

5 SubmittersRCV003333861 RCV004334121 RCV004804599 RCV005103960 RCV006269830

NM_007194.4(CHEK2):c.817G>T (p.Glu273Ter)

SNV
Germline

Chr22:28710035

Pathogenic

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA411102421

rs_587782152

4 SubmittersRCV003335756 RCV004334146 RCV005240749

NM_000059.4(BRCA2):c.2050C>T (p.Gln684Ter)

SNV
Germline

Chr13:32336405

Pathogenic/Likely pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA387768967

rs_2072449598

2 SubmittersRCV003340830 RCV003645355

NM_000059.4(BRCA2):c.8623G>A (p.Glu2875Lys)

SNV
Germline

Chr13:32371091

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387752980

rs_2137601108

3 SubmittersRCV003345092 RCV003645361

NM_000059.4(BRCA2):c.10048C>T (p.Gln3350Ter)

SNV
Germline

Chr13:32398561

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
BRCA2-related disorder

Criteria Provided
Conflicting Classifications

CA387767828

rs_2137666093

2 SubmittersRCV003530315 RCV004534412

NM_007194.4(CHEK2):c.424A>T (p.Lys142Ter)

SNV
Germline

Chr22:28725263

Pathogenic

Hereditary breast ovarian cancer syndrome

Criteria Provided
Single Submitter

CA411107932

rs_2146067261

1 SubmittersRCV003404997

NM_000059.4(BRCA2):c.1059A>T (p.Ser353=)

SNV
Germline

Chr13:32332537

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA6940486

rs_730881585

2 SubmittersRCV003477110 RCV005100272

NM_000059.4(BRCA2):c.1374A>T (p.Pro458=)

SNV
Germline

Chr13:32332852

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA483436781

rs_1555281873

2 SubmittersRCV003477111 RCV005100273

NM_000059.4(BRCA2):c.3198T>C (p.Asn1066=)

SNV
Germline

Chr13:32337553

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA483437500

rs_2072474776

3 SubmittersRCV003477115 RCV004364813 RCV006473272

NM_000059.4(BRCA2):c.4272T>C (p.Ser1424=)

SNV
Germline

Chr13:32338627

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA483438114

rs_2137504686

2 SubmittersRCV003477119 RCV006616933

NM_000059.4(BRCA2):c.4519C>T (p.Gln1507Ter)

SNV
Germline

Chr13:32338874

Pathogenic

Condition: not provided
Hereditary breast ovarian cancer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA387781652

rs_1386446278

3 SubmittersRCV003477120 RCV003645371

NM_000059.4(BRCA2):c.7038T>C (p.Asn2346=)

SNV
Germline

Chr13:32354891

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA483439333

rs_2137555368

3 SubmittersRCV003477128 RCV005310990 RCV006561695

NM_000059.4(BRCA2):c.7692T>G (p.Thr2564=)

SNV
Germline

Chr13:32357816

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA483439186

rs_1131692137

3 SubmittersRCV003477130 RCV005782399 RCV006473273

NM_000059.4(BRCA2):c.4999T>A (p.Ser1667Thr)

SNV
Germline

Chr13:32339354

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387783914

rs_2137512613

2 SubmittersRCV003482184

NM_007194.4(CHEK2):c.346G>A (p.Gly116Arg)

SNV
Germline

Chr22:28725341

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA411108203

rs_2146071181

2 SubmittersRCV003484422 RCV006451400

NM_007294.4(BRCA1):c.441+5A>G

SNV
Germline

Chr17:43104117

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA056099

rs_200358748

3 SubmittersRCV003484426 RCV003779220 RCV005794531

NM_024675.4(PALB2):c.3327T>A (p.Cys1109Ter)

SNV
Germline

Chr16:23607887

Pathogenic

Hereditary breast ovarian cancer syndrome

Criteria Provided
Single Submitter

CA395139353

rs_2142271504

1 SubmittersRCV003484243

NM_000059.4(BRCA2):c.9649-6T>A

SNV
Germline

Chr13:32398156

Conflicting classifications of pathogenicity

not specified
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA2697551702

rs_2073048863

2 SubmittersRCV003494126 RCV003645375

NM_000059.4(BRCA2):c.4792C>G (p.Leu1598Val)

SNV
Germline

Chr13:32339147

Conflicting classifications of pathogenicity

not specified
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387783239

rs_2137510258

2 SubmittersRCV003494253 RCV005100347

NM_000059.4(BRCA2):c.5400C>A (p.Tyr1800Ter)

SNV
Germline

Chr13:32339755

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA387785315

rs_780919805

3 SubmittersRCV003494434 RCV006478716

NM_000059.4(BRCA2):c.9766G>T (p.Glu3256Ter)

SNV
Germline

Chr13:32398279

Pathogenic

Hereditary breast ovarian cancer syndrome

Criteria Provided
Single Submitter

CA387765778

rs_1555289952

1 SubmittersRCV003530452

NM_000059.4(BRCA2):c.947G>A (p.Arg316Lys)

SNV
Germline

Chr13:32332425

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387760830

rs_2137466128

2 SubmittersRCV003530411 RCV005794535

NM_000059.4(BRCA2):c.516+5A>G

SNV
Germline

Chr13:32326287

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA2697551692

rs_2137450728

2 SubmittersRCV003530326 RCV006368263

NM_000059.4(BRCA2):c.3125T>A (p.Leu1042Ter)

SNV
Germline

Chr13:32337480

Pathogenic

Hereditary breast ovarian cancer syndrome

Criteria Provided
Single Submitter

CA387775715

rs_1593898642

1 SubmittersRCV003530328

NM_000059.4(BRCA2):c.5176G>T (p.Glu1726Ter)

SNV
Germline

Chr13:32339531

Pathogenic

Hereditary breast ovarian cancer syndrome

Criteria Provided
Single Submitter

CA387784541

rs_2548530163

1 SubmittersRCV003530375

NM_007294.4(BRCA1):c.2951T>C (p.Phe984Ser)

SNV
Germline

Chr17:43092580

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10596096

rs_2154350832

2 SubmittersRCV003530405 RCV004366466

NM_000059.4(BRCA2):c.4565T>A (p.Leu1522Ter)

SNV
Germline

Chr13:32338920

Pathogenic

Hereditary breast ovarian cancer syndrome

Criteria Provided
Single Submitter

CA387781846

rs_1593902785

1 SubmittersRCV003530434

NM_000059.4(BRCA2):c.2705C>G (p.Ala902Gly)

SNV
Germline

Chr13:32337060

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387773516

rs_749258007

2 SubmittersRCV003530658 RCV004950404

NM_000059.4(BRCA2):c.7675T>A (p.Ser2559Thr)

SNV
Germline

Chr13:32357799

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387745084

rs_2137566623

2 SubmittersRCV003530803 RCV004369202

NM_000059.4(BRCA2):c.3283C>A (p.Gln1095Lys)

SNV
Germline

Chr13:32337638

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387776098

rs_397507662

2 SubmittersRCV003530849 RCV006368321

NM_000465.4(BARD1):c.2203C>T (p.Gln735Ter)

SNV
Germline

Chr2:214728807

Likely pathogenic

Familial cancer of breast
Hereditary breast ovarian cancer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA2090062

rs_767395666

2 SubmittersRCV003501693 RCV005100354

NM_000059.4(BRCA2):c.7985C>G (p.Thr2662Arg)

SNV
Germline

Chr13:32363187

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA387748541

rs_431825362

2 SubmittersRCV003530949 RCV005871212

NM_000059.4(BRCA2):c.1271C>A (p.Ser424Ter)

SNV
Germline

Chr13:32332749

Pathogenic

Hereditary breast ovarian cancer syndrome

Criteria Provided
Single Submitter

CA387762380

rs_1566223138

1 SubmittersRCV003530964

NM_000059.4(BRCA2):c.-40+2T>A

SNV
Germline

Chr13:32315669

Likely pathogenic

Hereditary breast ovarian cancer syndrome

Criteria Provided
Single Submitter

CA2697551708

rs_1593879845

1 SubmittersRCV003530987

NM_000059.4(BRCA2):c.8697A>T (p.Gln2899His)

SNV
Germline

Chr13:32376734

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387754840

rs_786203707

2 SubmittersRCV003531218 RCV004950455

NM_007294.4(BRCA1):c.760G>A (p.Ala254Thr)

SNV
Germline

Chr17:43094771

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10600565

rs_2154493819

2 SubmittersRCV003531269 RCV005311015

NM_000059.4(BRCA2):c.1810A>T (p.Lys604Ter)

SNV
Germline

Chr13:32333288

Pathogenic

Hereditary breast ovarian cancer syndrome

Criteria Provided
Single Submitter

CA387765966

rs_80358467

1 SubmittersRCV003531234

NM_000059.4(BRCA2):c.8994T>G (p.Ser2998=)

SNV
Germline

Chr13:32379790

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA483439828

rs_760667279

2 SubmittersRCV003531337 RCV004950468

NM_000059.4(BRCA2):c.9225A>G (p.Ile3075Met)

SNV
Germline

Chr13:32380114

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387758495

rs_2137625584

2 SubmittersRCV003531194 RCV004604981

NM_000059.4(BRCA2):c.9118-6C>A

SNV
Germline

Chr13:32380001

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA6941345

rs_81002890

2 SubmittersRCV003531195

NM_000059.4(BRCA2):c.7241C>A (p.Ser2414Ter)

SNV
Germline

Chr13:32355094

Pathogenic

Hereditary breast ovarian cancer syndrome

Criteria Provided
Single Submitter

CA387740371

rs_80358951

1 SubmittersRCV003531343

NM_000059.4(BRCA2):c.8482A>T (p.Ile2828Leu)

SNV
Germline

Chr13:32370552

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA387752640

rs_80359098

4 SubmittersRCV003529845 RCV003584376 RCV005256922

NM_007294.4(BRCA1):c.2094A>G (p.Pro698=)

SNV
Germline

Chr17:43093437

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA500232938

rs_1131692098

3 SubmittersRCV003586038 RCV004798052 RCV005100409

NM_000059.4(BRCA2):c.3337G>T (p.Glu1113Ter)

SNV
Germline

Chr13:32337692

Pathogenic

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA387776298

rs_1482364471

3 SubmittersRCV003586076 RCV005100411

NM_000059.4(BRCA2):c.6329A>T (p.Asp2110Val)

SNV
Germline

Chr13:32340684

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387789078

rs_80358873

3 SubmittersRCV003586110 RCV005100414

NM_000059.4(BRCA2):c.8053A>T (p.Thr2685Ser)

SNV
Germline

Chr13:32363255

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA6941184

rs_761030046

2 SubmittersRCV003645429 RCV004371546

NM_000059.4(BRCA2):c.4072T>C (p.Phe1358Leu)

SNV
Germline

Chr13:32338427

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387779152

rs_1555283536

2 SubmittersRCV003645444 RCV006368391

NM_007294.4(BRCA1):c.756T>A (p.Arg252=)

SNV
Germline

Chr17:43094775

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA500233521

rs_786201338

2 SubmittersRCV003645462 RCV006259498

NM_000059.4(BRCA2):c.2911T>G (p.Leu971Val)

SNV
Germline

Chr13:32337266

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
not specified

Criteria Provided
Conflicting Classifications

CA387774191

rs_1555282936

2 SubmittersRCV003645505 RCV005240854

NM_007294.4(BRCA1):c.2182A>T (p.Arg728Ter)

SNV
Germline

Chr17:43093349

Pathogenic

Hereditary breast ovarian cancer syndrome

Criteria Provided
Single Submitter

CA10597639

rs_1555590265

1 SubmittersRCV003645533

NM_000059.4(BRCA2):c.7788A>T (p.Gly2596=)

SNV
Germline

Chr13:32357912

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA483439303

rs_1332875181

2 SubmittersRCV003645507 RCV004950517

NM_000059.4(BRCA2):c.9250A>T (p.Lys3084Ter)

SNV
Germline

Chr13:32380139

Pathogenic

Hereditary breast ovarian cancer syndrome

Criteria Provided
Single Submitter

CA387758688

rs_2137625880

1 SubmittersRCV003645587

NM_000059.4(BRCA2):c.9343A>T (p.Lys3115Ter)

SNV
Germline

Chr13:32394775

Pathogenic

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Multiple Submitters
No Conflicts

CA387761058

rs_2137652875

2 SubmittersRCV003645687 RCV004011699

NM_000059.4(BRCA2):c.6666C>G (p.Tyr2222Ter)

SNV
Germline

Chr13:32341021

Pathogenic

Hereditary breast ovarian cancer syndrome

Criteria Provided
Single Submitter

CA387790489

rs_2137529597

1 SubmittersRCV003645682

NM_000314.8(PTEN):c.68T>C (p.Leu23Ser)

SNV
Germline

Chr10:87864537

Conflicting classifications of pathogenicity

PTEN hamartoma tumor syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA377782023

rs_1589596407

2 SubmittersRCV003620926 RCV006451861

NM_000059.4(BRCA2):c.1640C>G (p.Ser547Ter)

SNV
Germline

Chr13:32333118

Pathogenic

Hereditary breast ovarian cancer syndrome

Criteria Provided
Single Submitter

CA387764962

rs_80358449

1 SubmittersRCV003645672

NM_007294.4(BRCA1):c.2312T>A (p.Leu771Ter)

SNV
Germline

Chr17:43093219

Pathogenic

Hereditary breast ovarian cancer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA10597379

rs_730881481

2 SubmittersRCV003645711

NM_007294.4(BRCA1):c.171G>A (p.Gly57=)

SNV
Germline

Chr17:43106497

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA500128165

rs_1057523606

2 SubmittersRCV003645752 RCV004950548

NM_000059.4(BRCA2):c.2840T>A (p.Leu947Ter)

SNV
Germline

Chr13:32337195

Pathogenic

Hereditary breast ovarian cancer syndrome

Criteria Provided
Single Submitter

CA387773887

rs_2548524738

1 SubmittersRCV003645850

NM_007294.4(BRCA1):c.1718C>G (p.Ser573Ter)

SNV
Germline

Chr17:43093813

Pathogenic

Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA10598592

rs_876660434

2 SubmittersRCV003644525 RCV004999994

NM_000059.4(BRCA2):c.5331G>T (p.Lys1777Asn)

SNV
Germline

Chr13:32339686

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387784935

rs_2137516424

2 SubmittersRCV003645745 RCV006368430

NM_000059.4(BRCA2):c.316+5G>T

SNV
Germline

Chr13:32319330

Pathogenic

Hereditary breast ovarian cancer syndrome

Criteria Provided
Single Submitter

CA2739277551

rs_81002840

1 SubmittersRCV003645798

NM_000059.4(BRCA2):c.964A>T (p.Lys322Ter)

SNV
Germline

Chr13:32332442

Pathogenic

Hereditary breast ovarian cancer syndrome

Criteria Provided
Single Submitter

CA387760896

rs_11571640

1 SubmittersRCV003645811

NM_000059.4(BRCA2):c.815A>T (p.Asn272Ile)

SNV
Germline

Chr13:32332293

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387760405

rs_2548518857

2 SubmittersRCV003644572 RCV004950569

NM_000059.4(BRCA2):c.8752G>T (p.Glu2918Ter)

SNV
Germline

Chr13:32376789

Pathogenic

Hereditary breast ovarian cancer syndrome

Criteria Provided
Single Submitter

CA387755091

rs_1555288179

1 SubmittersRCV003644554

NM_007294.4(BRCA1):c.3178G>A (p.Glu1060Lys)

SNV
Germline

Chr17:43092353

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10595630

rs_80357424

2 SubmittersRCV003644555 RCV006548712

NM_000059.4(BRCA2):c.8912A>C (p.Lys2971Thr)

SNV
Germline

Chr13:32379474

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387757267

rs_2137620416

2 SubmittersRCV003644581 RCV005522879

NM_000059.4(BRCA2):c.7075A>T (p.Lys2359Ter)

SNV
Germline

Chr13:32354928

Pathogenic

Hereditary breast ovarian cancer syndrome

Criteria Provided
Single Submitter

CA387738423

rs_2137555713

1 SubmittersRCV003644616

NM_000059.4(BRCA2):c.5830A>T (p.Lys1944Ter)

SNV
Germline

Chr13:32340185

Pathogenic

Hereditary breast ovarian cancer syndrome

Criteria Provided
Single Submitter

CA387787322

rs_1555284415

1 SubmittersRCV003644628

NM_007294.4(BRCA1):c.3760A>T (p.Lys1254Ter)

SNV
Germline

Chr17:43091771

Pathogenic

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA10594455

rs_80357362

2 SubmittersRCV003644769 RCV004373963

NM_000059.4(BRCA2):c.1403G>C (p.Arg468Thr)

SNV
Germline

Chr13:32332881

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
BRCA2-related cancer predisposition
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387764160

rs_786202940

4 SubmittersRCV003644779 RCV004805049 RCV005403349

NM_000059.4(BRCA2):c.4774A>G (p.Lys1592Glu)

SNV
Germline

Chr13:32339129

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA387783177

rs_886040548

3 SubmittersRCV003644784 RCV004374085 RCV006259511

NM_000059.4(BRCA2):c.426-15T>G

SNV
Germline

Chr13:32326086

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA2622600591

rs_2137449224

3 SubmittersRCV003644793 RCV004005847 RCV005784416

NM_000059.4(BRCA2):c.6645C>A (p.Tyr2215Ter)

SNV
Germline

Chr13:32341000

Pathogenic

Hereditary breast ovarian cancer syndrome

Criteria Provided
Single Submitter

CA387790368

rs_80358892

1 SubmittersRCV003644842

NM_007294.4(BRCA1):c.2881A>G (p.Asn961Asp)

SNV
Germline

Chr17:43092650

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA10596227

rs_786203786

2 SubmittersRCV003644857 RCV004787008

NM_000059.4(BRCA2):c.5099G>A (p.Gly1700Asp)

SNV
Germline

Chr13:32339454

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387784118

rs_2072520161

2 SubmittersRCV003644840 RCV004950661

NM_000059.4(BRCA2):c.317-8T>C

SNV
Germline

Chr13:32325068

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA2622599900

rs_2548513921

2 SubmittersRCV003607198 RCV005101428

NM_000059.4(BRCA2):c.3232G>A (p.Val1078Ile)

SNV
Germline

Chr13:32337587

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA387775924

rs_2137494570

2 SubmittersRCV003820821 RCV006451445

NM_007294.4(BRCA1):c.3013G>T (p.Glu1005Ter)

SNV
Germline

Chr17:43092518

Pathogenic

Hereditary breast ovarian cancer syndrome

Criteria Provided
Single Submitter

CA10595968

rs_2154347293

1 SubmittersRCV003842874

NM_000059.4(BRCA2):c.7424A>G (p.Glu2475Gly)

SNV
Germline

Chr13:32355277

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387742010

rs_1358596567

2 SubmittersRCV003835297 RCV005784431

NM_000059.4(BRCA2):c.2260C>T (p.Gln754Ter)

SNV
Germline

Chr13:32336615

Pathogenic

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA387771001

rs_80358496

2 SubmittersRCV003855740 RCV005522922

NM_007294.4(BRCA1):c.4035A>T (p.Glu1345Asp)

SNV
Germline

Chr17:43091496

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10593888

rs_2552111076

2 SubmittersRCV003869250 RCV004950747

NM_000059.4(BRCA2):c.2573G>C (p.Arg858Thr)

SNV
Germline

Chr13:32336928

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387772572

rs_2137487821

2 SubmittersRCV005311088 RCV003860389

NM_000059.4(BRCA2):c.6937+6A>G

SNV
Germline

Chr13:32344659

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA2740097649

rs_2548536090

2 SubmittersRCV003871979 RCV004006172

NM_000059.4(BRCA2):c.4531G>C (p.Glu1511Gln)

SNV
Germline

Chr13:32338886

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387781704

rs_376338226

2 SubmittersRCV003872753 RCV005311092

NM_007294.4(BRCA1):c.3525T>C (p.Ala1175=)

SNV
Germline

Chr17:43092006

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA500232065

rs_1131692086

2 SubmittersRCV003876869 RCV004775527

NM_007294.4(BRCA1):c.5075-15T>G

SNV
Germline

Chr17:43063966

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA2740095372

rs_2549575262

2 SubmittersRCV003877024 RCV004950755

NM_000059.4(BRCA2):c.2987T>C (p.Leu996Pro)

SNV
Germline

Chr13:32337342

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387774596

rs_80358545

2 SubmittersRCV003880722 RCV005537730

NM_000059.4(BRCA2):c.133G>A (p.Glu45Lys)

SNV
Germline

Chr13:32319142

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387754246

rs_397507581

2 SubmittersRCV003991191 RCV005103172

NM_007294.4(BRCA1):c.664A>T (p.Lys222Ter)

SNV
Germline

Chr17:43095852

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 1
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10600772

rs_2552233164

3 SubmittersRCV004012130 RCV004018019

NM_000059.4(BRCA2):c.9278T>A (p.Leu3093Ter)

SNV
Germline

Chr13:32394710

Likely pathogenic

Hereditary breast ovarian cancer syndrome

Criteria Provided
Single Submitter

CA387760791

rs_2137652071

1 SubmittersRCV004018109

NM_007294.4(BRCA1):c.2626G>T (p.Gly876Ter)

SNV
Germline

Chr17:43092905

Likely pathogenic

Hereditary breast ovarian cancer syndrome

Criteria Provided
Single Submitter

CA10596741

rs_1567794885

1 SubmittersRCV004018112

NM_000059.4(BRCA2):c.8833C>T (p.Gln2945Ter)

SNV
Germline

Chr13:32379395

Likely pathogenic

Hereditary breast ovarian cancer syndrome

Criteria Provided
Single Submitter

CA387756184

rs_2137619671

1 SubmittersRCV004018177

NM_000059.4(BRCA2):c.5387A>G (p.Asp1796Gly)

SNV
Germline

Chr13:32339742

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387785244

rs_2137517026

2 SubmittersRCV004524517 RCV005100613

NM_000059.4(BRCA2):c.7810C>G (p.Leu2604Val)

SNV
Germline

Chr13:32362527

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387746935

rs_1381434852

3 SubmittersRCV004522571 RCV005100644

NM_000059.4(BRCA2):c.8041A>C (p.Thr2681Pro)

SNV
Germline

Chr13:32363243

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387749012

rs_2137580189

2 SubmittersRCV004522714 RCV005100648

NM_000059.4(BRCA2):c.4076C>G (p.Thr1359Ser)

SNV
Germline

Chr13:32338431

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387779167

rs_878853578

2 SubmittersRCV004521806 RCV005059465

NM_000059.4(BRCA2):c.4435A>C (p.Ser1479Arg)

SNV
Germline

Chr13:32338790

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA387781312

rs_2137506313

2 SubmittersRCV004522004 RCV006564871

NM_000059.4(BRCA2):c.9712A>T (p.Lys3238Ter)

SNV
Germline

Chr13:32398225

Pathogenic

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA387765441

rs_2137663102

2 SubmittersRCV004520368 RCV005100666

NM_000059.4(BRCA2):c.9916A>G (p.Thr3306Ala)

SNV
Germline

Chr13:32398429

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA6941455

rs_762145450

2 SubmittersRCV004520373 RCV006488842

NM_000059.4(BRCA2):c.6814A>T (p.Arg2272Ter)

SNV
Germline

Chr13:32341169

Pathogenic

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA387791409

rs_2137530879

2 SubmittersRCV004517826 RCV005100637

NM_001042492.3(NF1):c.4648G>T (p.Glu1550Ter)

SNV
Germline

Chr17:31261781

Pathogenic/Likely pathogenic

Hereditary breast ovarian cancer syndrome
Neurofibromatosis, type 1

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV004794686 RCV005100833

NM_000059.4(BRCA2):c.8198A>T (p.Asp2733Val)

SNV
Germline

Chr13:32363400

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Condition: not provided
Familial cancer of breast

Criteria Provided
Conflicting Classifications

3 SubmittersRCV005102064 RCV006274465 RCV006256007

NM_000059.4(BRCA2):c.5224A>G (p.Asn1742Asp)

SNV
Germline

Chr13:32339579

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV004602359 RCV006613385

NM_000059.4(BRCA2):c.7618C>T (p.Leu2540=)

SNV
Germline

Chr13:32357742

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV004607131 RCV005059608

NM_000059.4(BRCA2):c.3088T>C (p.Phe1030Leu)

SNV
Germline

Chr13:32337443

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

3 SubmittersRCV004602262 RCV005000566 RCV005102100

NM_000059.4(BRCA2):c.5455C>A (p.Pro1819Thr)

SNV
Germline

Chr13:32339810

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV004602266 RCV005102101

NM_000059.4(BRCA2):c.8510G>C (p.Gly2837Ala)

SNV
Germline

Chr13:32370978

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV004602308 RCV005102102

NM_000059.4(BRCA2):c.2113G>T (p.Glu705Ter)

SNV
Germline

Chr13:32336468

Pathogenic

Hereditary breast ovarian cancer syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV004702826

NM_002878.4(RAD51D):c.346-2A>G

SNV
Germline

Chr17:35107124

Likely pathogenic

Hereditary breast ovarian cancer syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV004700008

NM_000059.4(BRCA2):c.794-1G>A

SNV
Germline

Chr13:32332271

Likely pathogenic

Condition: not provided
Hereditary breast ovarian cancer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV004719444 RCV004764810

NM_000059.4(BRCA2):c.9221T>C (p.Leu3074Pro)

SNV
Germline

Chr13:32380110

Likely pathogenic

Hereditary breast ovarian cancer syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV004785263

NM_000038.6(APC):c.1573T>A (p.Cys525Ser)

SNV
Germline

Chr5:112827953

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV004795329 RCV004795328

NM_000059.4(BRCA2):c.716G>A (p.Ser239Asn)

SNV
Germline

Chr13:32330953

Conflicting classifications of pathogenicity

BRCA2-related cancer predisposition
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

3 SubmittersRCV004802913 RCV004951853 RCV005105193

NM_007294.4(BRCA1):c.4358-31A>G

SNV
Germline

Chr17:43076645

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Condition: not provided

Criteria Provided
Conflicting Classifications

4 SubmittersRCV004952328 RCV005061652 RCV005621324 RCV005643671

NM_007294.4(BRCA1):c.2711A>G (p.Glu904Gly)

SNV
Germline

Chr17:43092820

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV004952343 RCV006617311

NM_000059.4(BRCA2):c.6841+2T>A

SNV
Germline

Chr13:32341198

Likely pathogenic

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV004952398 RCV005110061

NM_000059.4(BRCA2):c.2557C>T (p.Gln853Ter)

SNV
Germline

Chr13:32336912

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV004952415 RCV005629698

NM_000059.4(BRCA2):c.7889A>G (p.Lys2630Arg)

SNV
Germline

Chr13:32362606

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV004952456 RCV005110067

NM_000059.4(BRCA2):c.1475C>T (p.Ser492Phe)

SNV
Germline

Chr13:32332953

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV004952499 RCV005110070

NM_000059.4(BRCA2):c.320G>A (p.Arg107Lys)

SNV
Germline

Chr13:32325079

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV004952519 RCV005110071

NM_000059.4(BRCA2):c.1309A>T (p.Lys437Ter)

SNV
Germline

Chr13:32332787

Pathogenic

Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2
Hereditary breast ovarian cancer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV004999073 RCV005422537 RCV006484569

NM_000059.4(BRCA2):c.3654C>G (p.Gly1218=)

SNV
Germline

Chr13:32338009

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV004999083 RCV005112510

NM_000059.4(BRCA2):c.8574A>G (p.Gln2858=)

SNV
Germline

Chr13:32371042

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

3 SubmittersRCV004999103 RCV005112513 RCV005794659

NM_000059.4(BRCA2):c.9224T>C (p.Ile3075Thr)

SNV
Germline

Chr13:32380113

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

3 SubmittersRCV004999106 RCV005112514 RCV005794662

NM_000059.4(BRCA2):c.3478A>T (p.Arg1160Ter)

SNV
Germline

Chr13:32337833

Pathogenic/Likely pathogenic

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005071289 RCV006554729

NM_000059.4(BRCA2):c.3487G>C (p.Asp1163His)

SNV
Germline

Chr13:32337842

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005109596 RCV005522998

NM_000059.4(BRCA2):c.7223C>T (p.Pro2408Leu)

SNV
Germline

Chr13:32355076

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
not specified

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005109655 RCV006274490

NM_000059.4(BRCA2):c.1286T>A (p.Leu429Ter)

SNV
Germline

Chr13:32332764

Pathogenic

Hereditary breast ovarian cancer syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005117382

NM_000059.4(BRCA2):c.8281T>C (p.Ser2761Pro)

SNV
Germline

Chr13:32363483

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005109674 RCV006378025

NM_000059.4(BRCA2):c.8338G>A (p.Ala2780Thr)

SNV
Germline

Chr13:32370408

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005109675 RCV005784487

NM_000059.4(BRCA2):c.9284A>T (p.Asp3095Val)

SNV
Germline

Chr13:32394716

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
not specified

Criteria Provided
Conflicting Classifications

4 SubmittersRCV005109699 RCV005429127 RCV005523000 RCV006454598

NM_000059.4(BRCA2):c.929T>G (p.Leu310Ter)

SNV
Germline

Chr13:32332407

Pathogenic

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005119892 RCV005311180

NM_000059.4(BRCA2):c.2283T>G (p.Tyr761Ter)

SNV
Germline

Chr13:32336638

Pathogenic

Hereditary breast ovarian cancer syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005116943

NM_000059.4(BRCA2):c.2449A>T (p.Lys817Ter)

SNV
Germline

Chr13:32336804

Pathogenic

Hereditary breast ovarian cancer syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005130020

NM_000059.4(BRCA2):c.3427G>T (p.Glu1143Ter)

SNV
Germline

Chr13:32337782

Pathogenic

Hereditary breast ovarian cancer syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005130180

NM_000059.4(BRCA2):c.9256+6G>A

SNV
Germline

Chr13:32380151

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005121622 RCV006259634

NM_007294.4(BRCA1):c.1501A>T (p.Lys501Ter)

SNV
Germline

Chr17:43094030

Pathogenic

Hereditary breast ovarian cancer syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005122134

NM_000059.4(BRCA2):c.7805+1G>T

SNV
Germline

Chr13:32357930

Pathogenic

Hereditary breast ovarian cancer syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005131202

NM_000059.4(BRCA2):c.9080T>G (p.Leu3027Ter)

SNV
Germline

Chr13:32379876

Pathogenic

Hereditary breast ovarian cancer syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005141090

NM_007294.4(BRCA1):c.2977A>T (p.Lys993Ter)

SNV
Germline

Chr17:43092554

Pathogenic

Hereditary breast ovarian cancer syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005143538

NM_000059.4(BRCA2):c.3499A>C (p.Ile1167Leu)

SNV
Germline

Chr13:32337854

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005153728 RCV006378073

NM_000059.4(BRCA2):c.4069C>G (p.Leu1357Val)

SNV
Germline

Chr13:32338424

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005154520 RCV005537805

NM_000059.4(BRCA2):c.126T>G (p.Tyr42Ter)

SNV
Germline

Chr13:32319135

Pathogenic

Hereditary breast ovarian cancer syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005174179

NM_000059.4(BRCA2):c.9801G>T (p.Lys3267Asn)

SNV
Germline

Chr13:32398314

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005165387 RCV005523019

NM_000059.4(BRCA2):c.4123G>T (p.Glu1375Ter)

SNV
Germline

Chr13:32338478

Pathogenic

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005182911 RCV005537814

NM_000059.4(BRCA2):c.8574A>T (p.Gln2858His)

SNV
Germline

Chr13:32371042

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005179275 RCV005523023

NM_000059.4(BRCA2):c.4067T>A (p.Leu1356Ter)

SNV
Germline

Chr13:32338422

Pathogenic

Hereditary breast ovarian cancer syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005204039

NM_000059.4(BRCA2):c.2857G>T (p.Glu953Ter)

SNV
Germline

Chr13:32337212

Pathogenic

Hereditary breast ovarian cancer syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005203091

NM_000059.4(BRCA2):c.8981C>G (p.Ser2994Ter)

SNV
Germline

Chr13:32379777

Pathogenic

Hereditary breast ovarian cancer syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005201292

NM_000059.4(BRCA2):c.6841+1G>T

SNV
Germline

Chr13:32341197

Likely pathogenic

Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005199073 RCV006259649

NM_007294.4(BRCA1):c.301+3A>C

SNV
Germline

Chr17:43104865

Likely pathogenic

Hereditary breast ovarian cancer syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005196668

NM_000059.4(BRCA2):c.5347A>T (p.Lys1783Ter)

SNV
Germline

Chr13:32339702

Pathogenic

Hereditary breast ovarian cancer syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005206955

NM_007294.4(BRCA1):c.623C>T (p.Thr208Ile)

SNV
Germline

Chr17:43095893

Conflicting classifications of pathogenicity

not specified
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005231675 RCV006624979

NM_000059.4(BRCA2):c.2491G>T (p.Val831Phe)

SNV
Germline

Chr13:32336846

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005251477 RCV006489466

NM_000059.4(BRCA2):c.3471G>A (p.Glu1157=)

SNV
Germline

Chr13:32337826

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Pancreatic cancer, susceptibility to, 2

Criteria Provided
Conflicting Classifications

2 SubmittersRCV006489503 RCV005360287

NM_007294.4(BRCA1):c.315T>A (p.Tyr105Ter)

SNV
Germline

Chr17:43104248

Pathogenic

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005307397 RCV006474834

NM_000059.4(BRCA2):c.1256G>A (p.Cys419Tyr)

SNV
Germline

Chr13:32332734

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005307417 RCV006567315

NM_000059.4(BRCA2):c.4707C>T (p.Tyr1569=)

SNV
Germline

Chr13:32339062

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

3 SubmittersRCV005408299 RCV006259670 RCV006479675

NM_000059.4(BRCA2):c.540T>A (p.Ile180=)

SNV
Germline

Chr13:32326522

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005414826 RCV006479701

NM_000059.4(BRCA2):c.8734G>C (p.Ala2912Pro)

SNV
Germline

Chr13:32376771

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005529657 RCV006613534

NM_000059.4(BRCA2):c.7295G>A (p.Arg2432Lys)

SNV
Germline

Chr13:32355148

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005529695 RCV006631394

NM_000059.4(BRCA2):c.5029A>T (p.Arg1677Ter)

SNV
Germline

Chr13:32339384

Likely pathogenic

Hereditary breast ovarian cancer syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005629790

NM_024675.4(PALB2):c.2515-2A>G

SNV
Germline

Chr16:23629277

Likely pathogenic

Hereditary breast ovarian cancer syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005638744

NM_032043.3(BRIP1):c.1794G>A (p.Val598=)

SNV
Germline

Chr17:61780840

Likely pathogenic

Hereditary breast ovarian cancer syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005638746

NM_020937.4(FANCM):c.5354T>A (p.Leu1785Ter)

SNV
Germline

Chr14:45196185

Likely pathogenic

Hereditary breast ovarian cancer syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005638845

NM_000465.4(BARD1):c.1678-1G>C

SNV
Germline

Chr2:214745855

Likely pathogenic

Hereditary breast ovarian cancer syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005638853

NM_001370259.2(MEN1):c.1280G>T (p.Ser427Ile)

SNV
Germline

Chr11:64805104

Likely pathogenic

Hereditary breast ovarian cancer syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005638859

NM_000059.4(BRCA2):c.125A>T (p.Tyr42Phe)

SNV
Germline

Chr13:32319134

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV006371403 RCV006569840

NM_007294.4(BRCA1):c.2253G>A (p.Met751Ile)

SNV
Germline

Chr17:43093278

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV006380082 RCV006613819

NM_000059.4(BRCA2):c.4226T>C (p.Leu1409Ser)

SNV
Germline

Chr13:32338581

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV006380250 RCV006480193

NM_007294.4(BRCA1):c.4484+13A>G

SNV
Germline

Chr17:43076475

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV006449585 RCV006569948

NM_000059.4(BRCA2):c.8487G>C (p.Gln2829His)

SNV
Germline

Chr13:32370557

Pathogenic

Hereditary breast ovarian cancer syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV006453280

NM_000059.4(BRCA2):c.4414A>T (p.Lys1472Ter)

SNV
Germline

Chr13:32338769

Pathogenic

Hereditary breast ovarian cancer syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV006510766

NM_007294.4(BRCA1):c.1178T>G (p.Leu393Ter)

SNV
Germline

Chr17:43094353

Pathogenic

Hereditary breast ovarian cancer syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV006500742

NM_007294.4(BRCA1):c.3461T>A (p.Leu1154Ter)

SNV
Germline

Chr17:43092070

Pathogenic

Hereditary breast ovarian cancer syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV006512283

NM_000059.4(BRCA2):c.4906A>T (p.Lys1636Ter)

SNV
Germline

Chr13:32339261

Pathogenic

Hereditary breast ovarian cancer syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV006528528

NM_000059.4(BRCA2):c.3547G>T (p.Glu1183Ter)

SNV
Germline

Chr13:32337902

Pathogenic

Hereditary breast ovarian cancer syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV006515529

NM_000059.4(BRCA2):c.2083A>T (p.Lys695Ter)

SNV
Germline

Chr13:32336438

Pathogenic

Hereditary breast ovarian cancer syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV006515556

NM_000059.4(BRCA2):c.6892G>T (p.Glu2298Ter)

SNV
Germline

Chr13:32344608

Pathogenic

Hereditary breast ovarian cancer syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV006514881

NM_000059.4(BRCA2):c.4891A>T (p.Lys1631Ter)

SNV
Germline

Chr13:32339246

Pathogenic

Hereditary breast ovarian cancer syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV006513654

NM_000059.4(BRCA2):c.9649-2A>T

SNV
Germline

Chr13:32398160

Pathogenic

Hereditary breast ovarian cancer syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV006514137

NM_000059.4(BRCA2):c.1257T>A (p.Cys419Ter)

SNV
Germline

Chr13:32332735

Pathogenic

Hereditary breast ovarian cancer syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV006520299

NM_000059.4(BRCA2):c.7672G>T (p.Glu2558Ter)

SNV
Germline

Chr13:32357796

Pathogenic

Hereditary breast ovarian cancer syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV006581235