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.1653T>A (p.Tyr551Ter)	SNV Germline	Chr16:23634893	Pathogenic/Likely pathogenic	Fanconi anemia complementation group N Hereditary cancer-predisposing syndrome Condition: not provided Familial cancer of breast Breast-ovarian cancer, familial, susceptibility to, 5	Criteria Provided Multiple Submitters No Conflicts	CA251717	rs_118203997	14 SubmittersRCV000001302 RCV000217204 RCV000235772 RCV000476387 RCV005053882
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_024675.4(PALB2):c.2962C>T (p.Gln988Ter)	SNV Germline	Chr16:23623003	Pathogenic	Fanconi anemia complementation group N Hereditary cancer-predisposing syndrome Familial cancer of breast Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 5	Criteria Provided Multiple Submitters No Conflicts	CA164468	rs_118203999	9 SubmittersRCV000001306 RCV000129469 RCV000662710 RCV000657596 RCV005053884
NM_000263.4(NAGLU):c.889C>T (p.Arg297Ter)	SNV Germline	Chr17:42541074	Pathogenic/Likely pathogenic	Mucopolysaccharidosis, MPS-III-B Condition: not provided Mucopolysaccharidosis Charcot-Marie-Tooth disease axonal type 2V Mucopolysaccharidosis, MPS-III-B Familial cancer of breast Lysosomal storage disease	Criteria Provided Multiple Submitters No Conflicts	CA115045	rs_104894592	21 SubmittersRCV000001628 RCV000485168 RCV001030805 RCV001041784 RCV005887194 RCV006252548
NM_000391.4(TPP1):c.509-1G>C	SNV Germline	Chr11:6617154	Pathogenic	Neuronal ceroid lipofuscinosis 2 Autosomal recessive spinocerebellar ataxia 7 Condition: not provided Inborn genetic diseases Neuronal ceroid lipofuscinosis Autosomal recessive spinocerebellar ataxia 7 Neuronal ceroid lipofuscinosis 2 TPP1-related disorder Familial cancer of breast Malignant tumor of urinary bladder Ovarian serous cystadenocarcinoma Lung cancer	Criteria Provided Multiple Submitters No Conflicts	CA145458	rs_56144125	39 SubmittersRCV000002763 RCV000074608 RCV000189765 RCV000210689 RCV000228119 RCV000763268 RCV004554581 RCV005887222 RCV005887223 RCV005887224 RCV005887225
NM_000051.4(ATM):c.5763-1050A>G	SNV Germline	Chr11:108309110	Pathogenic	Ataxia - telangiectasia variant Ataxia-telangiectasia syndrome Condition: not provided Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome Familial cancer of breast Familial cancer of breast Breast and/or ovarian cancer ATM-related disorder Familial colorectal cancer type X ATM-related cancer predisposition	Reviewed By Expert Panel	CA115927	rs_774925473	20 SubmittersRCV000003157 RCV000229886 RCV000724150 RCV000494077 RCV002496239 RCV003466789 RCV003149561 RCV004739283 RCV005357061 RCV005000979
NM_000051.4(ATM):c.8480T>G (p.Phe2827Cys)	SNV Germline	Chr11:108345804	Likely pathogenic	Ataxia - telangiectasia variant Ataxia-telangiectasia syndrome Hereditary cancer-predisposing syndrome Condition: not provided Familial cancer of breast ATM-related cancer predisposition	Reviewed By Expert Panel	CA115928	rs_121434216	7 SubmittersRCV000003158 RCV000628126 RCV000581067 RCV003231072 RCV003460407 RCV005600613
NM_000051.4(ATM):c.7271T>G (p.Val2424Gly)	SNV Germline/somatic	Chr11:108329202	Pathogenic	Ataxia - telangiectasia variant T-cell prolymphocytic leukemia Breast cancer, susceptibility to Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome Condition: not provided Breast neoplasm Ataxia-telangiectasia syndrome Familial cancer of breast Familial cancer of breast Breast and/or ovarian cancer ATM-related disorder Inherited breast cancer and ovarian cancer NICE approved PARP inhibitor treatment ATM-related cancer predisposition	Reviewed By Expert Panel	CA115930	rs_28904921	35 SubmittersRCV000003159 RCV000003160 RCV000003161 RCV000115244 RCV000168223 RCV000212060 RCV000417259 RCV000515429 RCV000709707 RCV003149562 RCV004739284 RCV004584137 RCV004584175 RCV005638392
NM_000051.4(ATM):c.103C>T (p.Arg35Ter)	SNV Germline	Chr11:108227806	Pathogenic/Likely pathogenic	Ataxia-telangiectasia syndrome Hereditary cancer-predisposing syndrome Condition: not provided Ataxia-telangiectasia syndrome Familial cancer of breast Familial cancer of breast See cases ATM-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA166087	rs_55861249	26 SubmittersRCV000003164 RCV000130278 RCV000236608 RCV000515417 RCV003466790 RCV004797749 RCV005249980
NM_000051.4(ATM):c.9139C>T (p.Arg3047Ter)	SNV Germline/somatic	Chr11:108365476	Pathogenic	Ataxia-telangiectasia without immunodeficiency Ataxia-telangiectasia syndrome Condition: not provided Hereditary cancer-predisposing syndrome Familial cancer of breast Ataxia-telangiectasia syndrome Familial cancer of breast Malignant tumor of urinary bladder ATM-related cancer predisposition Inherited breast cancer and ovarian cancer	Reviewed By Expert Panel	CA115937	rs_121434219	21 SubmittersRCV000003168 RCV000199061 RCV000485169 RCV000493958 RCV002221466 RCV002476914 RCV003332073 RCV005364865 RCV005646836
NM_000051.4(ATM):c.3576G>A (p.Lys1192=)	SNV Germline	Chr11:108281168	Pathogenic	Ataxia-telangiectasia syndrome Hereditary cancer-predisposing syndrome Condition: not provided Breast and/or ovarian cancer Familial cancer of breast Malignant tumor of pancreas ATM-related cancer predisposition Ataxia-telangiectasia syndrome Familial cancer of breast	Reviewed By Expert Panel	CA193897	rs_587776551	30 SubmittersRCV000003174 RCV000165646 RCV000236731 RCV001797990 RCV002467434 RCV004554582 RCV005000980 RCV004819202
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.4081C>T (p.Gln1361Ter)	SNV Germline/somatic	Chr11:108287687	Pathogenic	Mantle cell lymphoma Ataxia-telangiectasia syndrome Familial cancer of breast	Criteria Provided Multiple Submitters No Conflicts	CA249428	rs_121434222	3 SubmittersRCV000003182 RCV000524615 RCV004018543
NM_000051.4(ATM):c.5309C>G (p.Ser1770Ter)	SNV Germline/somatic	Chr11:108301779	Pathogenic	T-cell prolymphocytic leukemia Ataxia-telangiectasia syndrome Familial cancer of breast Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA115949	rs_121434223	6 SubmittersRCV000003183 RCV000814605 RCV003155908 RCV003362659
NM_000051.4(ATM):c.2250G>A (p.Lys750=)	SNV Germline	Chr11:108256340	Pathogenic/Likely pathogenic	Ataxia-telangiectasia syndrome Hereditary cancer-predisposing syndrome Condition: not provided Ataxia-telangiectasia syndrome Familial cancer of breast Familial cancer of breast Malignant tumor of breast ATM-related cancer predisposition Inherited breast cancer and ovarian cancer	Criteria Provided Multiple Submitters No Conflicts	CA286741	rs_1137887	30 SubmittersRCV000003185 RCV000115149 RCV000235101 RCV000762817 RCV001171385 RCV001354985 RCV006554424 RCV006261931
NM_000051.4(ATM):c.8030A>G (p.Tyr2677Cys)	SNV Germline	Chr11:108334988	Likely pathogenic	Ataxia - telangiectasia variant Ataxia-telangiectasia syndrome Hereditary cancer-predisposing syndrome Familial cancer of breast	Criteria Provided Multiple Submitters No Conflicts	CA249431	rs_28942103	4 SubmittersRCV000003186 RCV000545206 RCV001027090 RCV004018544
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_000187.4(HGD):c.16-1G>A	SNV Germline	Chr3:120675864	Pathogenic	Alkaptonuria Condition: not provided HGD-related disorder Clear cell carcinoma of kidney Familial cancer of breast Nonpapillary renal cell carcinoma	Criteria Provided Multiple Submitters No Conflicts	CA340046	rs_397515347	12 SubmittersRCV000003320 RCV004597723 RCV004751195 RCV005887239 RCV005887237 RCV005887238
NM_000155.4(GALT):c.563A>G (p.Gln188Arg)	SNV Germline	Chr9:34648170	Conflicting classifications of pathogenicity	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase Condition: not provided Galactosemia Inborn genetic diseases GALT-related disorder Colorectal cancer Malignant tumor of esophagus Cervical cancer Familial cancer of breast Sarcoma Melanoma Thymoma Acute myeloid leukemia	Criteria Provided Conflicting Classifications	CA312566	rs_75391579	43 SubmittersRCV000003798 RCV000185917 RCV000825563 RCV004018548 RCV003415643 RCV005887263 RCV005887261 RCV005887262 RCV005887259 RCV005887264 RCV005887266 RCV005887265 RCV005887260
NM_000520.6(HEXA):c.805G>A (p.Gly269Ser)	SNV Germline	Chr15:72350518	Pathogenic/Likely pathogenic	Gm2-gangliosidosis, adult Tay-Sachs disease Condition: not provided Inborn genetic diseases HEXA-related disorder Familial cancer of breast	Criteria Provided Multiple Submitters No Conflicts	CA116500	rs_121907954	25 SubmittersRCV000004104 RCV000168285 RCV000434025 RCV002408450 RCV003924800 RCV005887276
NM_000520.6(HEXA):c.1073+1G>A	SNV Germline	Chr15:72348047	Pathogenic/Likely pathogenic	Tay-Sachs disease Condition: not provided Inborn genetic diseases HEXA-related disorder Acute myeloid leukemia Familial cancer of breast Clear cell carcinoma of kidney Thyroid cancer, nonmedullary, 1 Lung cancer	Criteria Provided Multiple Submitters No Conflicts	CA221064	rs_76173977	26 SubmittersRCV000004126 RCV000079047 RCV002415396 RCV003952341 RCV005887279 RCV005887278 RCV005887280 RCV005887281 RCV005887282
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_032043.3(BRIP1):c.2392C>T (p.Arg798Ter)	SNV Germline/somatic	Chr17:61716051	Pathogenic	Fanconi anemia complementation group J Hereditary cancer-predisposing syndrome Condition: not provided Fanconi anemia complementation group J Familial cancer of breast Fanconi anemia Breast cancer, early-onset Esophageal atresia/tracheoesophageal fistula Fanconi anemia complementation group J Familial cancer of breast BRIP1-related disorder Familial cancer of breast Fanconi anemia complementation group J BRIP1-related disorder Malignant tumor of breast Breast and/or ovarian cancer Ovarian cancer Gastric cancer Breast-ovarian cancer, familial, susceptibility to, 1 Inherited ovarian cancer (without breast cancer) Neoplasm	Criteria Provided Multiple Submitters No Conflicts	CA253268	rs_137852986	45 SubmittersRCV000005004 RCV000116139 RCV000212324 RCV000205436 RCV000312325 RCV000504276 RCV000515368 RCV000778127 RCV000989994 RCV001535465 RCV001355458 RCV003149564 RCV003155909 RCV003162209 RCV005246591 RCV005252666 RCV006273047
NM_007194.4(CHEK2):c.470T>C (p.Ile157Thr)	SNV Germline	Chr22:28725099	Conflicting classifications of pathogenicity; risk factor	CHEK2-related cancer predisposition Hereditary cancer-predisposing syndrome Familial cancer of breast not specified Breast and colorectal cancer, susceptibility to Condition: not provided Adrenal cortex carcinoma Gastrointestinal carcinoma Malignant tumor of breast Predisposition to cancer Breast and/or ovarian cancer CHEK2-related disorder TUMOR PREDISPOSITION SYNDROME 4, BREAST/PROSTATE/COLORECTAL Prostate cancer Familial prostate cancer Bone osteosarcoma CHEK2-related cancer predisposition Familial prostate cancer Bone osteosarcoma CHEK2-related cancer predisposition Familial cancer of breast Familial prostate cancer Bone osteosarcoma CHEK2-related cancer predisposition Familial cancer of breast Colorectal cancer Cystic fibrosis	Criteria Provided Conflicting Classifications	CA117630	rs_17879961	47 SubmittersRCV000005936 RCV000116018 RCV000144596 RCV000120555 RCV000210131 RCV000212410 RCV000626718 RCV001358111 RCV002254675 RCV001797993 RCV004528085 RCV003333685 RCV003447470 RCV005025010 RCV005406726 RCV005406727 RCV005862701
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.715G>T (p.Glu239Ter)	SNV Germline	Chr22:28711986	Pathogenic	Hereditary cancer-predisposing syndrome Condition: not provided Familial cancer of breast Colorectal cancer Prostate cancer	Criteria Provided Multiple Submitters No Conflicts	CA117642	rs_121908702	8 SubmittersRCV000166320 RCV000657605 RCV000635628 RCV002288467 RCV003333688
NM_007194.4(CHEK2):c.715G>A (p.Glu239Lys)	SNV Germline/somatic	Chr22:28711986	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome Familial cancer of breast not specified Predisposition to cancer Prostate cancer Colorectal cancer Bone osteosarcoma CHEK2-related cancer predisposition Familial cancer of breast Prostate cancer CHEK2-related cancer predisposition CHEK2-related disorder	Criteria Provided Conflicting Classifications	CA117644	rs_121908702	22 SubmittersRCV000114762 RCV000131201 RCV000205850 RCV001818140 RCV001789748 RCV002476934 RCV003333689 RCV004760322 RCV004532294
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_001171.6(ABCC6):c.3736-1G>A	SNV Germline	Chr16:16157810	Pathogenic	Autosomal recessive inherited pseudoxanthoma elasticum Arterial calcification, generalized, of infancy, 2 Condition: not provided Arterial calcification, generalized, of infancy, 2 Autosomal recessive inherited pseudoxanthoma elasticum Pseudoxanthoma elasticum, forme fruste Familial cancer of breast	Criteria Provided Multiple Submitters No Conflicts	CA129119	rs_63750273	8 SubmittersRCV000006952 RCV000023274 RCV002512860 RCV005016251 RCV005887331
NM_006214.4(PHYH):c.135-2A>G	SNV Germline	Chr10:13295608	Pathogenic	REFSUM DISEASE, ADULT, 1 Condition: not provided Phytanic acid storage disease Retinitis pigmentosa PHYH-related disorder Uterine corpus endometrial carcinoma Clear cell carcinoma of kidney Thyroid cancer, nonmedullary, 1 Retinal dystrophy Acute myeloid leukemia Familial cancer of breast	Criteria Provided Multiple Submitters No Conflicts	CA212871	rs_201578674	13 SubmittersRCV000008019 RCV000599568 RCV000660487 RCV001723551 RCV003407301 RCV005887359 RCV005887357 RCV005887358 RCV004814858 RCV005887356 RCV005887355
NM_000314.8(PTEN):c.1003C>T (p.Arg335Ter)	SNV Germline/somatic	Chr10:87961095	Pathogenic	Proteus-like syndrome Condition: not provided Cowden syndrome 1 Hereditary cancer-predisposing syndrome PTEN hamartoma tumor syndrome Macrocephaly-autism syndrome PTEN-related disorder Cowden syndrome 1 Macrocephaly-autism syndrome Ovarian neoplasm Cowden syndrome Cowden syndrome Macrocephaly-autism syndrome Abnormality of the nervous system Glioma susceptibility 2 Prostate cancer Familial meningioma Cowden syndrome 1 Macrocephaly-autism syndrome Familial cancer of breast Neoplasm	Criteria Provided Multiple Submitters No Conflicts	CA000245	rs_121909231	42 SubmittersRCV000008281 RCV000078601 RCV000033179 RCV000162409 RCV000197423 RCV000414819 RCV000677405 RCV000679881 RCV000785564 RCV001174674 RCV001824562 RCV001813965 RCV002476945 RCV002272011 RCV004668710
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.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.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+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_000202.8(IDS):c.1122C>T (p.Gly374=)	SNV Germline	ChrX:149486983	Pathogenic/Likely pathogenic	Mucopolysaccharidosis, MPS-II Condition: not provided Familial cancer of breast Nonpapillary renal cell carcinoma	Criteria Provided Multiple Submitters No Conflicts	CA340989	rs_113993948	14 SubmittersRCV000011237 RCV002284352 RCV005887425 RCV005887426
NM_004360.5(CDH1):c.2095C>T (p.Gln699Ter)	SNV Germline	Chr16:68823557	Pathogenic	Hereditary diffuse gastric adenocarcinoma CDH1-related diffuse gastric and lobular breast cancer syndrome Hereditary cancer-predisposing syndrome Familial cancer of breast Ovarian cancer	Reviewed By Expert Panel	CA280993	rs_121964874	7 SubmittersRCV000013024 RCV003328152 RCV005305944 RCV005364875
NM_004360.5(CDH1):c.1792C>T (p.Arg598Ter)	SNV Germline	Chr16:68822081	Pathogenic	Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome Condition: not provided CDH1-related diffuse gastric and lobular breast cancer syndrome Familial cancer of breast	Reviewed By Expert Panel	CA281000	rs_121964877	16 SubmittersRCV000013028 RCV000213248 RCV000484230 RCV003328155 RCV003473081
NM_000546.6(TP53):c.725G>A (p.Cys242Tyr)	SNV Germline/somatic	Chr17:7674238	Pathogenic/Likely pathogenic	Li-fraumeni-like syndrome Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Ovarian neoplasm Familial cancer of breast Condition: not provided Li-Fraumeni syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA000361	rs_121912655	11 SubmittersRCV000013148 RCV000129809 RCV000231770 RCV000785282 RCV002247332 RCV003314552 RCV002288484
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.818G>A (p.Arg273His)	SNV Germline/somatic	Chr17:7673802	Pathogenic	Li-Fraumeni syndrome 1 Thyroid gland undifferentiated (anaplastic) carcinoma Hereditary cancer-predisposing syndrome Condition: not provided Squamous cell carcinoma of the head and neck Li-Fraumeni syndrome Lung adenocarcinoma Neoplasm Ovarian neoplasm Rhabdomyosarcoma Malignant tumor of breast Familial cancer of breast Multiple myeloma Colorectal cancer Adrenocortical carcinoma, hereditary Breast and/or ovarian cancer Gastric cancer 12 conditions TP53-related disorder Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype Diffuse midline glioma, H3 K27M-mutant Desmoplastic small round cell tumor Ewing sarcoma	Reviewed By Expert Panel	CA000434	rs_28934576	40 SubmittersRCV000013163 RCV000013164 RCV000115738 RCV000254693 RCV000422097 RCV000463420 RCV000431361 RCV000441169 RCV000785345 RCV001257517 RCV001358389 RCV001527484 RCV001527470 RCV003466853 RCV003492292 RCV003162246 RCV005003353 RCV004797590 RCV006253498 RCV006253499 RCV006253497 RCV006253496
NM_000546.6(TP53):c.524G>A (p.Arg175His)	SNV Germline/somatic	Chr17:7675088	Pathogenic	Li-Fraumeni syndrome 1 Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Condition: not provided Neoplasm Malignant tumor of esophagus Colorectal cancer Ovarian neoplasm Gastric cancer 12 conditions Adrenocortical carcinoma, hereditary Lip and oral cavity carcinoma Squamous cell carcinoma of the head and neck TP53-related disorder Familial cancer of breast Astrocytoma IDH-mutant Diffuse midline glioma, H3 K27M-mutant Medulloblastoma SHH activated and TP53 mutant Undifferentiated embryonal sarcoma of the liver Neuroblastoma IDH-wildtype glioblastoma Small intestine adenocarcinoma	Reviewed By Expert Panel	CA000251	rs_28934578	35 SubmittersRCV000013173 RCV000131301 RCV000204931 RCV000213054 RCV000421746 RCV000239398 RCV001270269 RCV000785352 RCV003162247 RCV002476956 RCV003466854 RCV001255668 RCV001270268 RCV004797760 RCV001527463 RCV006253502 RCV006253503 RCV006253504 RCV006253506 RCV006253501 RCV006253505 RCV006253507
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_002875.5(RAD51):c.449G>A (p.Arg150Gln)	SNV Germline	Chr15:40718818	Conflicting classifications of pathogenicity	Familial cancer of breast Condition: not provided not specified Hereditary cancer RAD51-related disorder Clear cell carcinoma of kidney	Criteria Provided Conflicting Classifications	CA256732	rs_121917739	9 SubmittersRCV000014007 RCV000889052 RCV001777137 RCV003492294 RCV004541001 RCV005887490
NM_020975.6(RET):c.2372A>T (p.Tyr791Phe)	SNV Germline	Chr10:43118460	Conflicting classifications of pathogenicity	Pheochromocytoma Familial medullary thyroid carcinoma Hereditary cancer-predisposing syndrome Condition: not provided Aganglionic megacolon not specified Hirschsprung disease, susceptibility to, 1 Multiple endocrine neoplasia Renal hypodysplasia/aplasia 1 Multiple endocrine neoplasia type 2A Multiple endocrine neoplasia type 2B Familial cancer of breast Multiple endocrine neoplasia, type 2 Pheochromocytoma Multiple endocrine neoplasia type 2B Hirschsprung disease, susceptibility to, 1 Multiple endocrine neoplasia type 2A Familial medullary thyroid carcinoma	Criteria Provided Conflicting Classifications	CA008726	rs_77724903	27 SubmittersRCV000014963 RCV000014962 RCV000130367 RCV000034771 RCV000148769 RCV000235206 RCV000312825 RCV000370653 RCV000400976 RCV000436831 RCV000431156 RCV000754613 RCV001083710 RCV005394159
NM_000089.4(COL1A2):c.2123G>A (p.Arg708Gln)	SNV Germline	Chr7:94420276	Conflicting classifications of pathogenicity	Marfan syndrome, atypical Connective tissue disorder Ehlers-Danlos syndrome, arthrochalasia type, 2 Osteogenesis imperfecta Condition: not provided Postmenopausal osteoporosis Osteogenesis imperfecta type I Ehlers-Danlos syndrome, classic type, 1 Cardiovascular phenotype Familial cancer of breast not specified Sarcoma Cervical cancer Malignant tumor of urinary bladder	Criteria Provided Conflicting Classifications	CA210743	rs_72658163	13 SubmittersRCV000018790 RCV000680486 RCV001162671 RCV001162670 RCV001200183 RCV001330774 RCV002228038 RCV002415422 RCV005887558 RCV005237392 RCV005887561 RCV005887560 RCV005887559
NM_000089.4(COL1A2):c.1404+1G>A	SNV Germline	Chr7:94412122	Pathogenic/Likely pathogenic	Ehlers-Danlos syndrome, cardiac valvular type Familial cancer of breast Ehlers-Danlos syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA212998	rs_67162110	4 SubmittersRCV000018816 RCV005887562 RCV002276562 RCV005429214
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.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_002875.5(RAD51):c.760C>T (p.Arg254Ter)	SNV Germline	Chr15:40729620	Pathogenic	Mirror movements 2 Familial cancer of breast	Criteria Provided Single Submitter	CA342718	rs_199925463	3 SubmittersRCV000022747 RCV003322592
NM_002878.4(RAD51D):c.480+1G>A	SNV Germline	Chr17:35106987	Conflicting classifications of pathogenicity	Breast-ovarian cancer, familial, susceptibility to, 4 Ovarian carcinoma Hereditary cancer-predisposing syndrome Familial cancer of breast	Criteria Provided Conflicting Classifications	CA399089136	rs_1597862471	6 SubmittersRCV000023221 RCV001642233 RCV002336090 RCV001810402
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_024753.5(TTC21B):c.2758-2A>G	SNV Germline	Chr2:165899882	Pathogenic/Likely pathogenic	Nephronophthisis 12 Infantile nephronophthisis Asphyxiating thoracic dystrophy 4 Nephronophthisis 12 Jeune thoracic dystrophy Nephronophthisis Ovarian serous cystadenocarcinoma Familial cancer of breast	Criteria Provided Multiple Submitters No Conflicts	CA259952	rs_766132877	5 SubmittersRCV000023926 RCV000857220 RCV001535927 RCV001852034 RCV005888658 RCV005888657
NM_001079802.2(FKTN):c.166-4A>G	SNV Germline	Chr9:105601141	Conflicting classifications of pathogenicity	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 Dilated cardiomyopathy 1X Condition: not provided Walker-Warburg congenital muscular dystrophy not specified Myopathy caused by variation in FKTN FKTN-related disorder Cardiovascular phenotype Clear cell carcinoma of kidney Colon adenocarcinoma Lymphoma Familial cancer of breast	Criteria Provided Conflicting Classifications	CA295355	rs_193922689	15 SubmittersRCV000311406 RCV000405586 RCV000710133 RCV001086528 RCV001844018 RCV002470721 RCV004541024 RCV004018687 RCV005888726 RCV005888725 RCV005888727 RCV005888724
NM_000363.5(TNNI3):c.373-10=	SNV Germline	Chr19:55154216	Conflicting classifications of pathogenicity	Primary familial hypertrophic cardiomyopathy not specified Cardiomyopathy Hypertrophic cardiomyopathy Dilated cardiomyopathy 2A Cardiomyopathy, familial restrictive, 1 Hypertrophic cardiomyopathy 7 Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome Condition: not provided Familial cancer of breast	Criteria Provided Conflicting Classifications		rs_7252610	13 SubmittersRCV000030563 RCV000154609 RCV000769528 RCV000860231 RCV001129877 RCV001129874 RCV001129876 RCV001129875 RCV001701643 RCV005888813
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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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_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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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_001364171.2(ODAD1):c.853G>A (p.Ala285Thr)	SNV Germline	Chr19:48303953	Pathogenic	Primary ciliary dyskinesia 20 Kartagener syndrome Primary ciliary dyskinesia Condition: not provided ODAD1-related disorder Adams-Oliver syndrome 5 Familial cancer of breast	Criteria Provided Multiple Submitters No Conflicts	CA130413	rs_147718607	16 SubmittersRCV000032837 RCV000190918 RCV000231978 RCV001579702 RCV004754279 RCV005862739 RCV005888870
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_003977.4(AIP):c.47G>A (p.Arg16His)	SNV Germline	Chr11:67483205	Conflicting classifications of pathogenicity	Somatotroph adenoma Hereditary cancer-predisposing syndrome Condition: not provided Familial isolated pituitary adenoma AIP-related disorder Ovarian serous cystadenocarcinoma Familial cancer of breast Clear cell carcinoma of kidney Sarcoma Gastric cancer Malignant tumor of esophagus	Criteria Provided Conflicting Classifications	CA344116	rs_145047094	12 SubmittersRCV000034083 RCV000560928 RCV000893230 RCV001554284 RCV003924890 RCV005888917 RCV005888912 RCV005888914 RCV005888915 RCV005888916 RCV005888913
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.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_001042492.3(NF1):c.730+2T>G	SNV Germline	Chr17:31181787	Pathogenic	Condition: not provided not specified Neurofibromatosis, type 1 Acute myeloid leukemia Nonpapillary renal cell carcinoma Familial cancer of breast	Criteria Provided Multiple Submitters No Conflicts	CA215750	rs_200962248	5 SubmittersRCV000034588 RCV000202947 RCV003597961 RCV005888925 RCV005888926 RCV005888924
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_144997.7(FLCN):c.1523A>G (p.Lys508Arg)	SNV Germline	Chr17:17215000	Conflicting classifications of pathogenicity	Condition: not provided not specified Hereditary cancer-predisposing syndrome Birt-Hogg-Dube syndrome Familial spontaneous pneumothorax FLCN-related disorder Familial cancer of breast	Criteria Provided Conflicting Classifications	CA211431	rs_199643834	12 SubmittersRCV000034790 RCV000217068 RCV000573630 RCV001086352 RCV001121962 RCV003964837 RCV005888952
NM_003119.4(SPG7):c.1529C>T (p.Ala510Val)	SNV Germline	Chr16:89546737	Conflicting classifications of pathogenicity	Hereditary spastic paraplegia 7 Condition: not provided Spastic Paraplegia, Recessive Spastic paraparesis Dysarthria Gait ataxia Cerebral cortical atrophy Hereditary spastic paraplegia Optic nerve hypoplasia Inborn genetic diseases Intellectual disability Spastic ataxia Sensorimotor neuropathy Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 SPG7-related disorder Retinal dystrophy Ovarian serous cystadenocarcinoma Thymoma Thyroid cancer, nonmedullary, 1 Melanoma Acute myeloid leukemia Uveal melanoma Gastric cancer Lung cancer Familial cancer of breast Hereditary ataxia Uterine corpus endometrial carcinoma Clear cell carcinoma of kidney Sarcoma Hepatocellular carcinoma Cervical cancer Optic neuropathy	Criteria Provided Conflicting Classifications	CA090884	rs_61755320	72 SubmittersRCV000034858 RCV000195683 RCV000270813 RCV000626837 RCV000515835 RCV000677252 RCV000623796 RCV000850200 RCV001003619 RCV002463623 RCV003421943 RCV004814935 RCV005888961 RCV005888962 RCV005888963 RCV005888964 RCV005888954 RCV005888958 RCV005888960 RCV005888965 RCV005888953 RCV005624722 RCV005888966 RCV005888957 RCV005888959 RCV005888955 RCV005888956 RCV006255135
NM_000546.6(TP53):c.586C>T (p.Arg196Ter)	SNV Germline/somatic	Chr17:7674945	Pathogenic	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Condition: not provided Ovarian neoplasm not specified Li-Fraumeni syndrome 1 Adrenocortical carcinoma, hereditary TP53-related disorder Neoplasm Spindle cell sarcoma Familial cancer of breast Li-Fraumeni syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA000282	rs_397516435	23 SubmittersRCV000131510 RCV000205265 RCV000412710 RCV000785329 RCV001527464 RCV002288535 RCV003473274 RCV004797592 RCV006273074 RCV006253728 RCV005357264
NM_000546.6(TP53):c.637C>T (p.Arg213Ter)	SNV Germline/somatic	Chr17:7674894	Pathogenic	Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1 Condition: not provided Ovarian neoplasm Squamous cell carcinoma of the head and neck Familial cancer of breast Colorectal cancer TP53-related disorder Neoplasm Malignant glioma	Criteria Provided Multiple Submitters No Conflicts	CA000301	rs_397516436	18 SubmittersRCV000036532 RCV000115730 RCV000144672 RCV000213050 RCV000785330 RCV001270263 RCV001270264 RCV001270265 RCV004797593 RCV005229850 RCV006253729
NM_000546.6(TP53):c.920-2A>G	SNV Germline/somatic	Chr17:7673610	Pathogenic/Likely pathogenic	Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Condition: not provided Ovarian neoplasm Li-Fraumeni syndrome 1 Breast and/or ovarian cancer Familial cancer of breast Li-Fraumeni syndrome 1 Squamous cell carcinoma of the head and neck Neoplasm Ovarian serous cystadenocarcinoma Lung cancer Squamous cell lung carcinoma Hepatocellular carcinoma	Criteria Provided Multiple Submitters No Conflicts	CA000500	rs_397516439	13 SubmittersRCV000036537 RCV000132190 RCV000483617 RCV000785489 RCV002288536 RCV001798102 RCV005357265 RCV005889017 RCV005229851 RCV005889020 RCV005889021 RCV005889018 RCV005889019
NM_022124.6(CDH23):c.6049G>A (p.Gly2017Ser)	SNV Germline	Chr10:71790413	Pathogenic/Likely pathogenic	Rare genetic deafness Usher syndrome type 1D Pituitary adenoma 5, multiple types Autosomal recessive nonsyndromic hearing loss 12 Usher syndrome type 1D Condition: not provided Pituitary adenoma 5, multiple types CDH23-related disorder Familial cancer of breast	Criteria Provided Multiple Submitters No Conflicts	CA261792	rs_183431253	10 SubmittersRCV000039235 RCV000763216 RCV001376240 RCV001377826 RCV003473280 RCV004757122 RCV005890074
NM_000337.6(SGCD):c.123C>G (p.Leu41=)	SNV Germline	Chr5:156344608	Conflicting classifications of pathogenicity	not specified Condition: not provided Autosomal recessive limb-girdle muscular dystrophy type 2F Qualitative or quantitative defects of delta-sarcoglycan Inborn genetic diseases Familial cancer of breast	Criteria Provided Conflicting Classifications	CA142617	rs_200670993	12 SubmittersRCV000041401 RCV000725068 RCV001085117 RCV001156235 RCV002371857 RCV005890247
NM_000548.5(TSC2):c.3884-17C>G	SNV Germline	Chr16:2083678	Conflicting classifications of pathogenicity	Tuberous sclerosis syndrome not specified Hereditary cancer-predisposing syndrome Condition: not provided Tuberous sclerosis 2 Familial cancer of breast	Criteria Provided Conflicting Classifications	CA019629	rs_45517317	13 SubmittersRCV000042773 RCV000125680 RCV000210793 RCV001579953 RCV001797604 RCV005890312
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.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.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.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.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.1241T>A (p.Leu414Ter)	SNV Germline	Chr13:32332719	Pathogenic	Familial cancer of breast Breast-ovarian cancer, familial, susceptibility to, 2	Reviewed By Expert Panel	CA011294	rs_397507576	2 SubmittersRCV000577820 RCV000661407
NM_000059.4(BRCA2):c.133G>T (p.Glu45Ter)	SNV Germline	Chr13:32319142	Pathogenic	Familial cancer of breast Breast-ovarian cancer, familial, susceptibility to, 2	Reviewed By Expert Panel	CA011664	rs_397507581	2 SubmittersRCV000577322 RCV000661718
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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.2372C>A (p.Ser791Ter)	SNV Germline	Chr13:32336727	Pathogenic	Familial cancer of breast Breast-ovarian cancer, familial, susceptibility to, 2	Reviewed By Expert Panel	CA015065	rs_397507624	2 SubmittersRCV000577387 RCV000661619
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.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.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.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.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.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.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.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.2950G>T (p.Glu984Ter)	SNV Germline	Chr13:32337305	Pathogenic	Familial cancer of breast Breast-ovarian cancer, familial, susceptibility to, 2	Reviewed By Expert Panel	CA016874	rs_397507648	3 SubmittersRCV000577557 RCV000661522
NM_000059.4(BRCA2):c.2990T>A (p.Leu997Ter)	SNV Germline	Chr13:32337345	Pathogenic	Familial cancer of breast Breast-ovarian cancer, familial, susceptibility to, 2	Reviewed By Expert Panel	CA016989	rs_397507649	2 SubmittersRCV000577014 RCV000661889
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.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.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.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.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.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.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.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.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.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.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.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.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.3812C>A (p.Ser1271Ter)	SNV Germline	Chr13:32338167	Pathogenic	Breast-ovarian cancer, familial, susceptibility to, 2 Familial cancer of breast	Reviewed By Expert Panel	CA018857	rs_80358623	3 SubmittersRCV000113222 RCV003460576
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.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.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.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.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.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.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.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.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.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.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.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.4684C>T (p.Gln1562Ter)	SNV Germline	Chr13:32339039	Pathogenic	Familial cancer of breast Breast-ovarian cancer, familial, susceptibility to, 2	Reviewed By Expert Panel	CA020641	rs_397507737	2 SubmittersRCV000577446 RCV000661788
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>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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.631+2T>C	SNV Germline	Chr13:32326615	Likely pathogenic	Familial cancer of breast Breast-ovarian cancer, familial, susceptibility to, 2	Criteria Provided Single Submitter	CA023850	rs_81002899	2 SubmittersRCV000577702 RCV002463632
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.632-2A>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.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.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.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.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>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.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.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.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.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.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.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.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.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.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>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.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.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.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.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.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.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.775A>T (p.Arg259Ter)	SNV Germline	Chr13:32331012	Pathogenic	Breast-ovarian cancer, familial, susceptibility to, 2 Familial cancer of breast Breast-ovarian cancer, familial, susceptibility to, 1	Reviewed By Expert Panel	CA025262	rs_397507937	3 SubmittersRCV000661611 RCV000577353 RCV001310168
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.7806-2A>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.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.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.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.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.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.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.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>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.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.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.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.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.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.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.8191C>T (p.Gln2731Ter)	SNV Germline	Chr13:32363393	Pathogenic	Familial cancer of breast Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome Condition: not provided	Reviewed By Expert Panel	CA025503	rs_397507966	5 SubmittersRCV000577609 RCV000661582 RCV003162389 RCV000657635
NM_000059.4(BRCA2):c.8195T>G (p.Leu2732Ter)	SNV Germline	Chr13:32363397	Pathogenic	Breast-ovarian cancer, familial, susceptibility to, 2 Breast neoplasm Familial cancer of breast Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome	Reviewed By Expert Panel	CA025504	rs_397507967	5 SubmittersRCV000257547 RCV000412877 RCV005357355 RCV004018935
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.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.8332-1G>C	SNV Germline	Chr13:32370401	Pathogenic/Likely pathogenic	Familial cancer of breast Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome 8 conditions	Criteria Provided Multiple Submitters No Conflicts	CA025583	rs_397507979	4 SubmittersRCV000577132 RCV001356312 RCV002433533 RCV002496696
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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.9007G>T (p.Gly3003Ter)	SNV Germline	Chr13:32379803	Pathogenic	Familial cancer of breast Breast-ovarian cancer, familial, susceptibility to, 2	Reviewed By Expert Panel	CA025922	rs_397508029	2 SubmittersRCV000577209 RCV000661574
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.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.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.9117+2T>A	SNV Germline	Chr13:32379915	Pathogenic	Familial cancer of breast Breast and/or ovarian cancer	No Assertion Criteria Provided	CA025991	rs_397508038	2 SubmittersRCV000576934 RCV001271064
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.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.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.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.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.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.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.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.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.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.9502-28A>G	SNV Germline	Chr13:32396870	Likely pathogenic	Familial cancer of breast 8 conditions	Criteria Provided Single Submitter	CA026189	rs_397508059	2 SubmittersRCV000577189 RCV005394275
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.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.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.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.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.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.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.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_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.1063A>T (p.Lys355Ter)	SNV Germline	Chr17:43094468	Pathogenic	Familial cancer of breast Breast-ovarian cancer, familial, susceptibility to, 1 Inherited breast cancer and ovarian cancer	Reviewed By Expert Panel	CA000707	rs_397508829	3 SubmittersRCV000577658 RCV000661293 RCV006439617
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.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.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.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.1279G>T (p.Glu427Ter)	SNV Germline	Chr17:43094252	Pathogenic	Familial cancer of breast Breast-ovarian cancer, familial, susceptibility to, 1	Reviewed By Expert Panel	CA000839	rs_397508851	2 SubmittersRCV000577635 RCV000661237
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.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.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.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.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.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.1519A>T (p.Arg507Ter)	SNV Germline	Chr17:43094012	Pathogenic	Breast-ovarian cancer, familial, susceptibility to, 1 Familial cancer of breast	Reviewed By Expert Panel	CA001026	rs_397508880	2 SubmittersRCV000661253 RCV000577053
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.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.1631A>C (p.Gln544Pro)	SNV Germline	Chr17:43093900	Conflicting classifications of pathogenicity	Familial cancer of breast Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA001083	rs_397508892	3 SubmittersRCV000577790 RCV001012499
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.1660G>T (p.Glu554Ter)	SNV Germline	Chr17:43093871	Pathogenic	Familial cancer of breast Breast-ovarian cancer, familial, susceptibility to, 1	Reviewed By Expert Panel	CA001096	rs_397508894	2 SubmittersRCV000577258 RCV000660951
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.1690A>C (p.Asn564His)	SNV Germline	Chr17:43093841	Conflicting classifications of pathogenicity	Familial cancer of breast Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA001109	rs_397507191	3 SubmittersRCV000577732 RCV003157335
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.1741A>T (p.Lys581Ter)	SNV Germline	Chr17:43093790	Pathogenic	Familial cancer of breast Breast-ovarian cancer, familial, susceptibility to, 1 Hereditary cancer-predisposing syndrome	Reviewed By Expert Panel	CA001139	rs_397508905	4 SubmittersRCV000577270 RCV000661261 RCV006362039
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.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.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.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.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.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.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.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.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.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.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.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.2600A>G (p.Gln867Arg)	SNV Germline	Chr17:43092931	Conflicting classifications of pathogenicity	Familial cancer of breast Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA001711	rs_397508985	3 SubmittersRCV000577062 RCV002433537
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.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.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.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_007294.3(BRCA1):c.2995C>A (p.Leu999Ile)	SNV Germline	Chr17:43092536	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Familial cancer of breast	Criteria Provided Conflicting Classifications	CA001944	rs_80356848	4 SubmittersRCV001017832 RCV000577570
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.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.3097G>T (p.Glu1033Ter)	SNV Germline	Chr17:43092434	Pathogenic	Breast-ovarian cancer, familial, susceptibility to, 1 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	Reviewed By Expert Panel	CA002029	rs_273899698	6 SubmittersRCV000077538 RCV000216019 RCV000763004
NM_007294.4(BRCA1):c.3152C>G (p.Thr1051Ser)	SNV Germline	Chr17:43092379	Conflicting classifications of pathogenicity	Familial cancer of breast Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA002054	rs_397509039	3 SubmittersRCV000577273 RCV002321545
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.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.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.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.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.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.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.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.3782T>G (p.Leu1261Ter)	SNV Germline	Chr17:43091749	Pathogenic	Familial cancer of breast Breast-ovarian cancer, familial, susceptibility to, 1	Reviewed By Expert Panel	CA002437	rs_397507219	2 SubmittersRCV000577218 RCV000661080
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.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.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.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.4072G>A (p.Glu1358Lys)	SNV Germline	Chr17:43091459	Conflicting classifications of pathogenicity	Familial cancer of breast Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA002601	rs_397509136	3 SubmittersRCV000577462 RCV000772125
NM_007294.4(BRCA1):c.4116T>A (p.Cys1372Ter)	SNV Germline	Chr17:43091013	Pathogenic	Familial cancer of breast Breast-ovarian cancer, familial, susceptibility to, 1	Reviewed By Expert Panel	CA002640	rs_397509140	2 SubmittersRCV000577285 RCV000661047
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_024675.4(PALB2):c.1653T>A (p.Tyr551Ter)

SNV
Germline

Chr16:23634893

Pathogenic/Likely pathogenic

Fanconi anemia complementation group N
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 5

Criteria Provided
Multiple Submitters
No Conflicts

CA251717

rs_118203997

14 SubmittersRCV000001302 RCV000217204 RCV000235772 RCV000476387 RCV005053882

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_024675.4(PALB2):c.2962C>T (p.Gln988Ter)

SNV
Germline

Chr16:23623003

Pathogenic

Fanconi anemia complementation group N
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 5

Criteria Provided
Multiple Submitters
No Conflicts

CA164468

rs_118203999

9 SubmittersRCV000001306 RCV000129469 RCV000662710 RCV000657596 RCV005053884

NM_000263.4(NAGLU):c.889C>T (p.Arg297Ter)

SNV
Germline

Chr17:42541074

Pathogenic/Likely pathogenic

Mucopolysaccharidosis, MPS-III-B
Condition: not provided
Mucopolysaccharidosis
Charcot-Marie-Tooth disease axonal type 2V
Mucopolysaccharidosis, MPS-III-B
Familial cancer of breast
Lysosomal storage disease

Criteria Provided
Multiple Submitters
No Conflicts

CA115045

rs_104894592

21 SubmittersRCV000001628 RCV000485168 RCV001030805 RCV001041784 RCV005887194 RCV006252548

NM_000391.4(TPP1):c.509-1G>C

SNV
Germline

Chr11:6617154

Pathogenic

Neuronal ceroid lipofuscinosis 2
Autosomal recessive spinocerebellar ataxia 7
Condition: not provided
Inborn genetic diseases
Neuronal ceroid lipofuscinosis
Autosomal recessive spinocerebellar ataxia 7
Neuronal ceroid lipofuscinosis 2
TPP1-related disorder
Familial cancer of breast
Malignant tumor of urinary bladder
Ovarian serous cystadenocarcinoma
Lung cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA145458

rs_56144125

39 SubmittersRCV000002763 RCV000074608 RCV000189765 RCV000210689 RCV000228119 RCV000763268 RCV004554581 RCV005887222 RCV005887223 RCV005887224 RCV005887225

NM_000051.4(ATM):c.5763-1050A>G

SNV
Germline

Chr11:108309110

Pathogenic

Ataxia - telangiectasia variant
Ataxia-telangiectasia syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast
Familial cancer of breast
Breast and/or ovarian cancer
ATM-related disorder
Familial colorectal cancer type X
ATM-related cancer predisposition

Reviewed By Expert Panel

CA115927

rs_774925473

20 SubmittersRCV000003157 RCV000229886 RCV000724150 RCV000494077 RCV002496239 RCV003466789 RCV003149561 RCV004739283 RCV005357061 RCV005000979

NM_000051.4(ATM):c.8480T>G (p.Phe2827Cys)

SNV
Germline

Chr11:108345804

Likely pathogenic

Ataxia - telangiectasia variant
Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
ATM-related cancer predisposition

Reviewed By Expert Panel

CA115928

rs_121434216

7 SubmittersRCV000003158 RCV000628126 RCV000581067 RCV003231072 RCV003460407 RCV005600613

NM_000051.4(ATM):c.7271T>G (p.Val2424Gly)

SNV
Germline/somatic

Chr11:108329202

Pathogenic

Ataxia - telangiectasia variant
T-cell prolymphocytic leukemia
Breast cancer, susceptibility to
Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided
Breast neoplasm
Ataxia-telangiectasia syndrome
Familial cancer of breast
Familial cancer of breast
Breast and/or ovarian cancer
ATM-related disorder
Inherited breast cancer and ovarian cancer
NICE approved PARP inhibitor treatment
ATM-related cancer predisposition

Reviewed By Expert Panel

CA115930

rs_28904921

35 SubmittersRCV000003159 RCV000003160 RCV000003161 RCV000115244 RCV000168223 RCV000212060 RCV000417259 RCV000515429 RCV000709707 RCV003149562 RCV004739284 RCV004584137 RCV004584175 RCV005638392

NM_000051.4(ATM):c.103C>T (p.Arg35Ter)

SNV
Germline

Chr11:108227806

Pathogenic/Likely pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Ataxia-telangiectasia syndrome
Familial cancer of breast
Familial cancer of breast
See cases
ATM-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA166087

rs_55861249

26 SubmittersRCV000003164 RCV000130278 RCV000236608 RCV000515417 RCV003466790 RCV004797749 RCV005249980

NM_000051.4(ATM):c.9139C>T (p.Arg3047Ter)

SNV
Germline/somatic

Chr11:108365476

Pathogenic

Ataxia-telangiectasia without immunodeficiency
Ataxia-telangiectasia syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Ataxia-telangiectasia syndrome
Familial cancer of breast
Malignant tumor of urinary bladder
ATM-related cancer predisposition
Inherited breast cancer and ovarian cancer

Reviewed By Expert Panel

CA115937

rs_121434219

21 SubmittersRCV000003168 RCV000199061 RCV000485169 RCV000493958 RCV002221466 RCV002476914 RCV003332073 RCV005364865 RCV005646836

NM_000051.4(ATM):c.3576G>A (p.Lys1192=)

SNV
Germline

Chr11:108281168

Pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Breast and/or ovarian cancer
Familial cancer of breast
Malignant tumor of pancreas
ATM-related cancer predisposition
Ataxia-telangiectasia syndrome
Familial cancer of breast

Reviewed By Expert Panel

CA193897

rs_587776551

30 SubmittersRCV000003174 RCV000165646 RCV000236731 RCV001797990 RCV002467434 RCV004554582 RCV005000980 RCV004819202

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.4081C>T (p.Gln1361Ter)

SNV
Germline/somatic

Chr11:108287687

Pathogenic

Mantle cell lymphoma
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA249428

rs_121434222

3 SubmittersRCV000003182 RCV000524615 RCV004018543

NM_000051.4(ATM):c.5309C>G (p.Ser1770Ter)

SNV
Germline/somatic

Chr11:108301779

Pathogenic

T-cell prolymphocytic leukemia
Ataxia-telangiectasia syndrome
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA115949

rs_121434223

6 SubmittersRCV000003183 RCV000814605 RCV003155908 RCV003362659

NM_000051.4(ATM):c.2250G>A (p.Lys750=)

SNV
Germline

Chr11:108256340

Pathogenic/Likely pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Ataxia-telangiectasia syndrome
Familial cancer of breast
Familial cancer of breast
Malignant tumor of breast
ATM-related cancer predisposition
Inherited breast cancer and ovarian cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA286741

rs_1137887

30 SubmittersRCV000003185 RCV000115149 RCV000235101 RCV000762817 RCV001171385 RCV001354985 RCV006554424 RCV006261931

NM_000051.4(ATM):c.8030A>G (p.Tyr2677Cys)

SNV
Germline

Chr11:108334988

Likely pathogenic

Ataxia - telangiectasia variant
Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA249431

rs_28942103

4 SubmittersRCV000003186 RCV000545206 RCV001027090 RCV004018544

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_000187.4(HGD):c.16-1G>A

SNV
Germline

Chr3:120675864

Pathogenic

Alkaptonuria
Condition: not provided
HGD-related disorder
Clear cell carcinoma of kidney
Familial cancer of breast
Nonpapillary renal cell carcinoma

Criteria Provided
Multiple Submitters
No Conflicts

CA340046

rs_397515347

12 SubmittersRCV000003320 RCV004597723 RCV004751195 RCV005887239 RCV005887237 RCV005887238

NM_000155.4(GALT):c.563A>G (p.Gln188Arg)

SNV
Germline

Chr9:34648170

Conflicting classifications of pathogenicity

Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
Condition: not provided
Galactosemia
Inborn genetic diseases
GALT-related disorder
Colorectal cancer
Malignant tumor of esophagus
Cervical cancer
Familial cancer of breast
Sarcoma
Melanoma
Thymoma
Acute myeloid leukemia

Criteria Provided
Conflicting Classifications

CA312566

rs_75391579

43 SubmittersRCV000003798 RCV000185917 RCV000825563 RCV004018548 RCV003415643 RCV005887263 RCV005887261 RCV005887262 RCV005887259 RCV005887264 RCV005887266 RCV005887265 RCV005887260

NM_000520.6(HEXA):c.805G>A (p.Gly269Ser)

SNV
Germline

Chr15:72350518

Pathogenic/Likely pathogenic

Gm2-gangliosidosis, adult
Tay-Sachs disease
Condition: not provided
Inborn genetic diseases
HEXA-related disorder
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA116500

rs_121907954

25 SubmittersRCV000004104 RCV000168285 RCV000434025 RCV002408450 RCV003924800 RCV005887276

NM_000520.6(HEXA):c.1073+1G>A

SNV
Germline

Chr15:72348047

Pathogenic/Likely pathogenic

Tay-Sachs disease
Condition: not provided
Inborn genetic diseases
HEXA-related disorder
Acute myeloid leukemia
Familial cancer of breast
Clear cell carcinoma of kidney
Thyroid cancer, nonmedullary, 1
Lung cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA221064

rs_76173977

26 SubmittersRCV000004126 RCV000079047 RCV002415396 RCV003952341 RCV005887279 RCV005887278 RCV005887280 RCV005887281 RCV005887282

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_032043.3(BRIP1):c.2392C>T (p.Arg798Ter)

SNV
Germline/somatic

Chr17:61716051

Pathogenic

Fanconi anemia complementation group J
Hereditary cancer-predisposing syndrome
Condition: not provided
Fanconi anemia complementation group J
Familial cancer of breast
Fanconi anemia
Breast cancer, early-onset
Esophageal atresia/tracheoesophageal fistula
Fanconi anemia complementation group J
Familial cancer of breast
BRIP1-related disorder
Familial cancer of breast
Fanconi anemia complementation group J
BRIP1-related disorder
Malignant tumor of breast
Breast and/or ovarian cancer
Ovarian cancer
Gastric cancer
Breast-ovarian cancer, familial, susceptibility to, 1
Inherited ovarian cancer (without breast cancer)
Neoplasm

Criteria Provided
Multiple Submitters
No Conflicts

CA253268

rs_137852986

45 SubmittersRCV000005004 RCV000116139 RCV000212324 RCV000205436 RCV000312325 RCV000504276 RCV000515368 RCV000778127 RCV000989994 RCV001535465 RCV001355458 RCV003149564 RCV003155909 RCV003162209 RCV005246591 RCV005252666 RCV006273047

NM_007194.4(CHEK2):c.470T>C (p.Ile157Thr)

SNV
Germline

Chr22:28725099

Conflicting classifications of pathogenicity; risk factor

CHEK2-related cancer predisposition
Hereditary cancer-predisposing syndrome
Familial cancer of breast
not specified
Breast and colorectal cancer, susceptibility to
Condition: not provided
Adrenal cortex carcinoma
Gastrointestinal carcinoma
Malignant tumor of breast
Predisposition to cancer
Breast and/or ovarian cancer
CHEK2-related disorder
TUMOR PREDISPOSITION SYNDROME 4, BREAST/PROSTATE/COLORECTAL
Prostate cancer
Familial prostate cancer
Bone osteosarcoma
CHEK2-related cancer predisposition
Familial prostate cancer
Bone osteosarcoma
CHEK2-related cancer predisposition
Familial cancer of breast
Familial prostate cancer
Bone osteosarcoma
CHEK2-related cancer predisposition
Familial cancer of breast
Colorectal cancer
Cystic fibrosis

Criteria Provided
Conflicting Classifications

CA117630

rs_17879961

47 SubmittersRCV000005936 RCV000116018 RCV000144596 RCV000120555 RCV000210131 RCV000212410 RCV000626718 RCV001358111 RCV002254675 RCV001797993 RCV004528085 RCV003333685 RCV003447470 RCV005025010 RCV005406726 RCV005406727 RCV005862701

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.715G>T (p.Glu239Ter)

SNV
Germline

Chr22:28711986

Pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Colorectal cancer
Prostate cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA117642

rs_121908702

8 SubmittersRCV000166320 RCV000657605 RCV000635628 RCV002288467 RCV003333688

NM_007194.4(CHEK2):c.715G>A (p.Glu239Lys)

SNV
Germline/somatic

Chr22:28711986

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast
not specified
Predisposition to cancer
Prostate cancer
Colorectal cancer
Bone osteosarcoma
CHEK2-related cancer predisposition
Familial cancer of breast
Prostate cancer
CHEK2-related cancer predisposition
CHEK2-related disorder

Criteria Provided
Conflicting Classifications

CA117644

rs_121908702

22 SubmittersRCV000114762 RCV000131201 RCV000205850 RCV001818140 RCV001789748 RCV002476934 RCV003333689 RCV004760322 RCV004532294

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_001171.6(ABCC6):c.3736-1G>A

SNV
Germline

Chr16:16157810

Pathogenic

Autosomal recessive inherited pseudoxanthoma elasticum
Arterial calcification, generalized, of infancy, 2
Condition: not provided
Arterial calcification, generalized, of infancy, 2
Autosomal recessive inherited pseudoxanthoma elasticum
Pseudoxanthoma elasticum, forme fruste
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA129119

rs_63750273

8 SubmittersRCV000006952 RCV000023274 RCV002512860 RCV005016251 RCV005887331

NM_006214.4(PHYH):c.135-2A>G

SNV
Germline

Chr10:13295608

Pathogenic

REFSUM DISEASE, ADULT, 1
Condition: not provided
Phytanic acid storage disease
Retinitis pigmentosa
PHYH-related disorder
Uterine corpus endometrial carcinoma
Clear cell carcinoma of kidney
Thyroid cancer, nonmedullary, 1
Retinal dystrophy
Acute myeloid leukemia
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA212871

rs_201578674

13 SubmittersRCV000008019 RCV000599568 RCV000660487 RCV001723551 RCV003407301 RCV005887359 RCV005887357 RCV005887358 RCV004814858 RCV005887356 RCV005887355

NM_000314.8(PTEN):c.1003C>T (p.Arg335Ter)

SNV
Germline/somatic

Chr10:87961095

Pathogenic

Proteus-like syndrome
Condition: not provided
Cowden syndrome 1
Hereditary cancer-predisposing syndrome
PTEN hamartoma tumor syndrome
Macrocephaly-autism syndrome
PTEN-related disorder
Cowden syndrome 1
Macrocephaly-autism syndrome
Ovarian neoplasm
Cowden syndrome
Cowden syndrome
Macrocephaly-autism syndrome
Abnormality of the nervous system
Glioma susceptibility 2
Prostate cancer
Familial meningioma
Cowden syndrome 1
Macrocephaly-autism syndrome
Familial cancer of breast
Neoplasm

Criteria Provided
Multiple Submitters
No Conflicts

CA000245

rs_121909231

42 SubmittersRCV000008281 RCV000078601 RCV000033179 RCV000162409 RCV000197423 RCV000414819 RCV000677405 RCV000679881 RCV000785564 RCV001174674 RCV001824562 RCV001813965 RCV002476945 RCV002272011 RCV004668710

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.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.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+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_000202.8(IDS):c.1122C>T (p.Gly374=)

SNV
Germline

ChrX:149486983

Pathogenic/Likely pathogenic

Mucopolysaccharidosis, MPS-II
Condition: not provided
Familial cancer of breast
Nonpapillary renal cell carcinoma

Criteria Provided
Multiple Submitters
No Conflicts

CA340989

rs_113993948

14 SubmittersRCV000011237 RCV002284352 RCV005887425 RCV005887426

NM_004360.5(CDH1):c.2095C>T (p.Gln699Ter)

SNV
Germline

Chr16:68823557

Pathogenic

Hereditary diffuse gastric adenocarcinoma
CDH1-related diffuse gastric and lobular breast cancer syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Ovarian cancer

Reviewed By Expert Panel

CA280993

rs_121964874

7 SubmittersRCV000013024 RCV003328152 RCV005305944 RCV005364875

NM_004360.5(CDH1):c.1792C>T (p.Arg598Ter)

SNV
Germline

Chr16:68822081

Pathogenic

Hereditary diffuse gastric adenocarcinoma
Hereditary cancer-predisposing syndrome
Condition: not provided
CDH1-related diffuse gastric and lobular breast cancer syndrome
Familial cancer of breast

Reviewed By Expert Panel

CA281000

rs_121964877

16 SubmittersRCV000013028 RCV000213248 RCV000484230 RCV003328155 RCV003473081

NM_000546.6(TP53):c.725G>A (p.Cys242Tyr)

SNV
Germline/somatic

Chr17:7674238

Pathogenic/Likely pathogenic

Li-fraumeni-like syndrome
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Ovarian neoplasm
Familial cancer of breast
Condition: not provided
Li-Fraumeni syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA000361

rs_121912655

11 SubmittersRCV000013148 RCV000129809 RCV000231770 RCV000785282 RCV002247332 RCV003314552 RCV002288484

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.818G>A (p.Arg273His)

SNV
Germline/somatic

Chr17:7673802

Pathogenic

Li-Fraumeni syndrome 1
Thyroid gland undifferentiated (anaplastic) carcinoma
Hereditary cancer-predisposing syndrome
Condition: not provided
Squamous cell carcinoma of the head and neck
Li-Fraumeni syndrome
Lung adenocarcinoma
Neoplasm
Ovarian neoplasm
Rhabdomyosarcoma
Malignant tumor of breast
Familial cancer of breast
Multiple myeloma
Colorectal cancer
Adrenocortical carcinoma, hereditary
Breast and/or ovarian cancer
Gastric cancer
12 conditions
TP53-related disorder
Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype
Diffuse midline glioma, H3 K27M-mutant
Desmoplastic small round cell tumor
Ewing sarcoma

Reviewed By Expert Panel

CA000434

rs_28934576

40 SubmittersRCV000013163 RCV000013164 RCV000115738 RCV000254693 RCV000422097 RCV000463420 RCV000431361 RCV000441169 RCV000785345 RCV001257517 RCV001358389 RCV001527484 RCV001527470 RCV003466853 RCV003492292 RCV003162246 RCV005003353 RCV004797590 RCV006253498 RCV006253499 RCV006253497 RCV006253496

NM_000546.6(TP53):c.524G>A (p.Arg175His)

SNV
Germline/somatic

Chr17:7675088

Pathogenic

Li-Fraumeni syndrome 1
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Condition: not provided
Neoplasm
Malignant tumor of esophagus
Colorectal cancer
Ovarian neoplasm
Gastric cancer
12 conditions
Adrenocortical carcinoma, hereditary
Lip and oral cavity carcinoma
Squamous cell carcinoma of the head and neck
TP53-related disorder
Familial cancer of breast
Astrocytoma IDH-mutant
Diffuse midline glioma, H3 K27M-mutant
Medulloblastoma SHH activated and TP53 mutant
Undifferentiated embryonal sarcoma of the liver
Neuroblastoma
IDH-wildtype glioblastoma
Small intestine adenocarcinoma

Reviewed By Expert Panel

CA000251

rs_28934578

35 SubmittersRCV000013173 RCV000131301 RCV000204931 RCV000213054 RCV000421746 RCV000239398 RCV001270269 RCV000785352 RCV003162247 RCV002476956 RCV003466854 RCV001255668 RCV001270268 RCV004797760 RCV001527463 RCV006253502 RCV006253503 RCV006253504 RCV006253506 RCV006253501 RCV006253505 RCV006253507

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_002875.5(RAD51):c.449G>A (p.Arg150Gln)

SNV
Germline

Chr15:40718818

Conflicting classifications of pathogenicity

Familial cancer of breast
Condition: not provided
not specified
Hereditary cancer
RAD51-related disorder
Clear cell carcinoma of kidney

Criteria Provided
Conflicting Classifications

CA256732

rs_121917739

9 SubmittersRCV000014007 RCV000889052 RCV001777137 RCV003492294 RCV004541001 RCV005887490

NM_020975.6(RET):c.2372A>T (p.Tyr791Phe)

SNV
Germline

Chr10:43118460

Conflicting classifications of pathogenicity

Pheochromocytoma
Familial medullary thyroid carcinoma
Hereditary cancer-predisposing syndrome
Condition: not provided
Aganglionic megacolon
not specified
Hirschsprung disease, susceptibility to, 1
Multiple endocrine neoplasia
Renal hypodysplasia/aplasia 1
Multiple endocrine neoplasia type 2A
Multiple endocrine neoplasia type 2B
Familial cancer of breast
Multiple endocrine neoplasia, type 2
Pheochromocytoma
Multiple endocrine neoplasia type 2B
Hirschsprung disease, susceptibility to, 1
Multiple endocrine neoplasia type 2A
Familial medullary thyroid carcinoma

Criteria Provided
Conflicting Classifications

CA008726

rs_77724903

27 SubmittersRCV000014963 RCV000014962 RCV000130367 RCV000034771 RCV000148769 RCV000235206 RCV000312825 RCV000370653 RCV000400976 RCV000436831 RCV000431156 RCV000754613 RCV001083710 RCV005394159

NM_000089.4(COL1A2):c.2123G>A (p.Arg708Gln)

SNV
Germline

Chr7:94420276

Conflicting classifications of pathogenicity

Marfan syndrome, atypical
Connective tissue disorder
Ehlers-Danlos syndrome, arthrochalasia type, 2
Osteogenesis imperfecta
Condition: not provided
Postmenopausal osteoporosis
Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, classic type, 1
Cardiovascular phenotype
Familial cancer of breast
not specified
Sarcoma
Cervical cancer
Malignant tumor of urinary bladder

Criteria Provided
Conflicting Classifications

CA210743

rs_72658163

13 SubmittersRCV000018790 RCV000680486 RCV001162671 RCV001162670 RCV001200183 RCV001330774 RCV002228038 RCV002415422 RCV005887558 RCV005237392 RCV005887561 RCV005887560 RCV005887559

NM_000089.4(COL1A2):c.1404+1G>A

SNV
Germline

Chr7:94412122

Pathogenic/Likely pathogenic

Ehlers-Danlos syndrome, cardiac valvular type
Familial cancer of breast
Ehlers-Danlos syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA212998

rs_67162110

4 SubmittersRCV000018816 RCV005887562 RCV002276562 RCV005429214

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.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_002875.5(RAD51):c.760C>T (p.Arg254Ter)

SNV
Germline

Chr15:40729620

Pathogenic

Mirror movements 2
Familial cancer of breast

Criteria Provided
Single Submitter

CA342718

rs_199925463

3 SubmittersRCV000022747 RCV003322592

NM_002878.4(RAD51D):c.480+1G>A

SNV
Germline

Chr17:35106987

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 4
Ovarian carcinoma
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA399089136

rs_1597862471

6 SubmittersRCV000023221 RCV001642233 RCV002336090 RCV001810402

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_024753.5(TTC21B):c.2758-2A>G

SNV
Germline

Chr2:165899882

Pathogenic/Likely pathogenic

Nephronophthisis 12
Infantile nephronophthisis
Asphyxiating thoracic dystrophy 4
Nephronophthisis 12
Jeune thoracic dystrophy
Nephronophthisis
Ovarian serous cystadenocarcinoma
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA259952

rs_766132877

5 SubmittersRCV000023926 RCV000857220 RCV001535927 RCV001852034 RCV005888658 RCV005888657

NM_001079802.2(FKTN):c.166-4A>G

SNV
Germline

Chr9:105601141

Conflicting classifications of pathogenicity

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
Dilated cardiomyopathy 1X
Condition: not provided
Walker-Warburg congenital muscular dystrophy
not specified
Myopathy caused by variation in FKTN
FKTN-related disorder
Cardiovascular phenotype
Clear cell carcinoma of kidney
Colon adenocarcinoma
Lymphoma
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA295355

rs_193922689

15 SubmittersRCV000311406 RCV000405586 RCV000710133 RCV001086528 RCV001844018 RCV002470721 RCV004541024 RCV004018687 RCV005888726 RCV005888725 RCV005888727 RCV005888724

NM_000363.5(TNNI3):c.373-10=

SNV
Germline

Chr19:55154216

Conflicting classifications of pathogenicity

Primary familial hypertrophic cardiomyopathy
not specified
Cardiomyopathy
Hypertrophic cardiomyopathy
Dilated cardiomyopathy 2A
Cardiomyopathy, familial restrictive, 1
Hypertrophic cardiomyopathy 7
Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome
Condition: not provided
Familial cancer of breast

Criteria Provided
Conflicting Classifications

rs_7252610

13 SubmittersRCV000030563 RCV000154609 RCV000769528 RCV000860231 RCV001129877 RCV001129874 RCV001129876 RCV001129875 RCV001701643 RCV005888813

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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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_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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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_001364171.2(ODAD1):c.853G>A (p.Ala285Thr)

SNV
Germline

Chr19:48303953

Pathogenic

Primary ciliary dyskinesia 20
Kartagener syndrome
Primary ciliary dyskinesia
Condition: not provided
ODAD1-related disorder
Adams-Oliver syndrome 5
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA130413

rs_147718607

16 SubmittersRCV000032837 RCV000190918 RCV000231978 RCV001579702 RCV004754279 RCV005862739 RCV005888870

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_003977.4(AIP):c.47G>A (p.Arg16His)

SNV
Germline

Chr11:67483205

Conflicting classifications of pathogenicity

Somatotroph adenoma
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial isolated pituitary adenoma
AIP-related disorder
Ovarian serous cystadenocarcinoma
Familial cancer of breast
Clear cell carcinoma of kidney
Sarcoma
Gastric cancer
Malignant tumor of esophagus

Criteria Provided
Conflicting Classifications

CA344116

rs_145047094

12 SubmittersRCV000034083 RCV000560928 RCV000893230 RCV001554284 RCV003924890 RCV005888917 RCV005888912 RCV005888914 RCV005888915 RCV005888916 RCV005888913

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.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_001042492.3(NF1):c.730+2T>G

SNV
Germline

Chr17:31181787

Pathogenic

Condition: not provided
not specified
Neurofibromatosis, type 1
Acute myeloid leukemia
Nonpapillary renal cell carcinoma
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA215750

rs_200962248

5 SubmittersRCV000034588 RCV000202947 RCV003597961 RCV005888925 RCV005888926 RCV005888924

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_144997.7(FLCN):c.1523A>G (p.Lys508Arg)

SNV
Germline

Chr17:17215000

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Hereditary cancer-predisposing syndrome
Birt-Hogg-Dube syndrome
Familial spontaneous pneumothorax
FLCN-related disorder
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA211431

rs_199643834

12 SubmittersRCV000034790 RCV000217068 RCV000573630 RCV001086352 RCV001121962 RCV003964837 RCV005888952

NM_003119.4(SPG7):c.1529C>T (p.Ala510Val)

SNV
Germline

Chr16:89546737

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia 7
Condition: not provided
Spastic Paraplegia, Recessive
Spastic paraparesis
Dysarthria
Gait ataxia
Cerebral cortical atrophy
Hereditary spastic paraplegia
Optic nerve hypoplasia
Inborn genetic diseases
Intellectual disability
Spastic ataxia
Sensorimotor neuropathy
Frontotemporal dementia and/or amyotrophic lateral sclerosis 2
SPG7-related disorder
Retinal dystrophy
Ovarian serous cystadenocarcinoma
Thymoma
Thyroid cancer, nonmedullary, 1
Melanoma
Acute myeloid leukemia
Uveal melanoma
Gastric cancer
Lung cancer
Familial cancer of breast
Hereditary ataxia
Uterine corpus endometrial carcinoma
Clear cell carcinoma of kidney
Sarcoma
Hepatocellular carcinoma
Cervical cancer
Optic neuropathy

Criteria Provided
Conflicting Classifications

CA090884

rs_61755320

72 SubmittersRCV000034858 RCV000195683 RCV000270813 RCV000626837 RCV000515835 RCV000677252 RCV000623796 RCV000850200 RCV001003619 RCV002463623 RCV003421943 RCV004814935 RCV005888961 RCV005888962 RCV005888963 RCV005888964 RCV005888954 RCV005888958 RCV005888960 RCV005888965 RCV005888953 RCV005624722 RCV005888966 RCV005888957 RCV005888959 RCV005888955 RCV005888956 RCV006255135

NM_000546.6(TP53):c.586C>T (p.Arg196Ter)

SNV
Germline/somatic

Chr17:7674945

Pathogenic

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Condition: not provided
Ovarian neoplasm
not specified
Li-Fraumeni syndrome 1
Adrenocortical carcinoma, hereditary
TP53-related disorder
Neoplasm
Spindle cell sarcoma
Familial cancer of breast
Li-Fraumeni syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA000282

rs_397516435

23 SubmittersRCV000131510 RCV000205265 RCV000412710 RCV000785329 RCV001527464 RCV002288535 RCV003473274 RCV004797592 RCV006273074 RCV006253728 RCV005357264

NM_000546.6(TP53):c.637C>T (p.Arg213Ter)

SNV
Germline/somatic

Chr17:7674894

Pathogenic

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1
Condition: not provided
Ovarian neoplasm
Squamous cell carcinoma of the head and neck
Familial cancer of breast
Colorectal cancer
TP53-related disorder
Neoplasm
Malignant glioma

Criteria Provided
Multiple Submitters
No Conflicts

CA000301

rs_397516436

18 SubmittersRCV000036532 RCV000115730 RCV000144672 RCV000213050 RCV000785330 RCV001270263 RCV001270264 RCV001270265 RCV004797593 RCV005229850 RCV006253729

NM_000546.6(TP53):c.920-2A>G

SNV
Germline/somatic

Chr17:7673610

Pathogenic/Likely pathogenic

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Ovarian neoplasm
Li-Fraumeni syndrome 1
Breast and/or ovarian cancer
Familial cancer of breast
Li-Fraumeni syndrome 1
Squamous cell carcinoma of the head and neck
Neoplasm
Ovarian serous cystadenocarcinoma
Lung cancer
Squamous cell lung carcinoma
Hepatocellular carcinoma

Criteria Provided
Multiple Submitters
No Conflicts

CA000500

rs_397516439

13 SubmittersRCV000036537 RCV000132190 RCV000483617 RCV000785489 RCV002288536 RCV001798102 RCV005357265 RCV005889017 RCV005229851 RCV005889020 RCV005889021 RCV005889018 RCV005889019

NM_022124.6(CDH23):c.6049G>A (p.Gly2017Ser)

SNV
Germline

Chr10:71790413

Pathogenic/Likely pathogenic

Rare genetic deafness
Usher syndrome type 1D
Pituitary adenoma 5, multiple types
Autosomal recessive nonsyndromic hearing loss 12
Usher syndrome type 1D
Condition: not provided
Pituitary adenoma 5, multiple types
CDH23-related disorder
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA261792

rs_183431253

10 SubmittersRCV000039235 RCV000763216 RCV001376240 RCV001377826 RCV003473280 RCV004757122 RCV005890074

NM_000337.6(SGCD):c.123C>G (p.Leu41=)

SNV
Germline

Chr5:156344608

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2F
Qualitative or quantitative defects of delta-sarcoglycan
Inborn genetic diseases
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA142617

rs_200670993

12 SubmittersRCV000041401 RCV000725068 RCV001085117 RCV001156235 RCV002371857 RCV005890247

NM_000548.5(TSC2):c.3884-17C>G

SNV
Germline

Chr16:2083678

Conflicting classifications of pathogenicity

Tuberous sclerosis syndrome
not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
Tuberous sclerosis 2
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA019629

rs_45517317

13 SubmittersRCV000042773 RCV000125680 RCV000210793 RCV001579953 RCV001797604 RCV005890312

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.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.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.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.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.1241T>A (p.Leu414Ter)

SNV
Germline

Chr13:32332719

Pathogenic

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

Reviewed By Expert Panel

CA011294

rs_397507576

2 SubmittersRCV000577820 RCV000661407

NM_000059.4(BRCA2):c.133G>T (p.Glu45Ter)

SNV
Germline

Chr13:32319142

Pathogenic

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

Reviewed By Expert Panel

CA011664

rs_397507581

2 SubmittersRCV000577322 RCV000661718

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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.2372C>A (p.Ser791Ter)

SNV
Germline

Chr13:32336727

Pathogenic

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

Reviewed By Expert Panel

CA015065

rs_397507624

2 SubmittersRCV000577387 RCV000661619

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.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.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.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.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.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.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.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.2950G>T (p.Glu984Ter)

SNV
Germline

Chr13:32337305

Pathogenic

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

Reviewed By Expert Panel

CA016874

rs_397507648

3 SubmittersRCV000577557 RCV000661522

NM_000059.4(BRCA2):c.2990T>A (p.Leu997Ter)

SNV
Germline

Chr13:32337345

Pathogenic

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

Reviewed By Expert Panel

CA016989

rs_397507649

2 SubmittersRCV000577014 RCV000661889

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.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.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.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.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.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.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.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.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.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.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.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.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.3812C>A (p.Ser1271Ter)

SNV
Germline

Chr13:32338167

Pathogenic

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

Reviewed By Expert Panel

CA018857

rs_80358623

3 SubmittersRCV000113222 RCV003460576

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.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.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.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.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.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.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.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.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.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.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.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.4684C>T (p.Gln1562Ter)

SNV
Germline

Chr13:32339039

Pathogenic

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

Reviewed By Expert Panel

CA020641

rs_397507737

2 SubmittersRCV000577446 RCV000661788

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>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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.631+2T>C

SNV
Germline

Chr13:32326615

Likely pathogenic

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

Criteria Provided
Single Submitter

CA023850

rs_81002899

2 SubmittersRCV000577702 RCV002463632

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.632-2A>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.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.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.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.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>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.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.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.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.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.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.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.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.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.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>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.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.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.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.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.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.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.775A>T (p.Arg259Ter)

SNV
Germline

Chr13:32331012

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 1

Reviewed By Expert Panel

CA025262

rs_397507937

3 SubmittersRCV000661611 RCV000577353 RCV001310168

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.7806-2A>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.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.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.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.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.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.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.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>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.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.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.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.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.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.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.8191C>T (p.Gln2731Ter)

SNV
Germline

Chr13:32363393

Pathogenic

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

Reviewed By Expert Panel

CA025503

rs_397507966

5 SubmittersRCV000577609 RCV000661582 RCV003162389 RCV000657635

NM_000059.4(BRCA2):c.8195T>G (p.Leu2732Ter)

SNV
Germline

Chr13:32363397

Pathogenic

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

Reviewed By Expert Panel

CA025504

rs_397507967

5 SubmittersRCV000257547 RCV000412877 RCV005357355 RCV004018935

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.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.8332-1G>C

SNV
Germline

Chr13:32370401

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA025583

rs_397507979

4 SubmittersRCV000577132 RCV001356312 RCV002433533 RCV002496696

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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.9007G>T (p.Gly3003Ter)

SNV
Germline

Chr13:32379803

Pathogenic

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

Reviewed By Expert Panel

CA025922

rs_397508029

2 SubmittersRCV000577209 RCV000661574

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.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.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.9117+2T>A

SNV
Germline

Chr13:32379915

Pathogenic

Familial cancer of breast
Breast and/or ovarian cancer

No Assertion Criteria Provided

CA025991

rs_397508038

2 SubmittersRCV000576934 RCV001271064

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.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.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.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.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.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.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.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.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.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.9502-28A>G

SNV
Germline

Chr13:32396870

Likely pathogenic

Familial cancer of breast
8 conditions

Criteria Provided
Single Submitter

CA026189

rs_397508059

2 SubmittersRCV000577189 RCV005394275

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.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.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.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.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.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.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.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_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.1063A>T (p.Lys355Ter)

SNV
Germline

Chr17:43094468

Pathogenic

Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 1
Inherited breast cancer and ovarian cancer

Reviewed By Expert Panel

CA000707

rs_397508829

3 SubmittersRCV000577658 RCV000661293 RCV006439617

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.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.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.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.1279G>T (p.Glu427Ter)

SNV
Germline

Chr17:43094252

Pathogenic

Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 1

Reviewed By Expert Panel

CA000839

rs_397508851

2 SubmittersRCV000577635 RCV000661237

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.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.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.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.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.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.1519A>T (p.Arg507Ter)

SNV
Germline

Chr17:43094012

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Familial cancer of breast

Reviewed By Expert Panel

CA001026

rs_397508880

2 SubmittersRCV000661253 RCV000577053

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.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.1631A>C (p.Gln544Pro)

SNV
Germline

Chr17:43093900

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA001083

rs_397508892

3 SubmittersRCV000577790 RCV001012499

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.1660G>T (p.Glu554Ter)

SNV
Germline

Chr17:43093871

Pathogenic

Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 1

Reviewed By Expert Panel

CA001096

rs_397508894

2 SubmittersRCV000577258 RCV000660951

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.1690A>C (p.Asn564His)

SNV
Germline

Chr17:43093841

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA001109

rs_397507191

3 SubmittersRCV000577732 RCV003157335

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.1741A>T (p.Lys581Ter)

SNV
Germline

Chr17:43093790

Pathogenic

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

Reviewed By Expert Panel

CA001139

rs_397508905

4 SubmittersRCV000577270 RCV000661261 RCV006362039

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.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.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.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.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.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.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.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.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.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.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.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.2600A>G (p.Gln867Arg)

SNV
Germline

Chr17:43092931

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA001711

rs_397508985

3 SubmittersRCV000577062 RCV002433537

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.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.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.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_007294.3(BRCA1):c.2995C>A (p.Leu999Ile)

SNV
Germline

Chr17:43092536

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA001944

rs_80356848

4 SubmittersRCV001017832 RCV000577570

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.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.3097G>T (p.Glu1033Ter)

SNV
Germline

Chr17:43092434

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
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

Reviewed By Expert Panel

CA002029

rs_273899698

6 SubmittersRCV000077538 RCV000216019 RCV000763004

NM_007294.4(BRCA1):c.3152C>G (p.Thr1051Ser)

SNV
Germline

Chr17:43092379

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA002054

rs_397509039

3 SubmittersRCV000577273 RCV002321545

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.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.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.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.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.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.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.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.3782T>G (p.Leu1261Ter)

SNV
Germline

Chr17:43091749

Pathogenic

Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 1

Reviewed By Expert Panel

CA002437

rs_397507219

2 SubmittersRCV000577218 RCV000661080

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.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.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.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.4072G>A (p.Glu1358Lys)

SNV
Germline

Chr17:43091459

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA002601

rs_397509136

3 SubmittersRCV000577462 RCV000772125

NM_007294.4(BRCA1):c.4116T>A (p.Cys1372Ter)

SNV
Germline

Chr17:43091013

Pathogenic

Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 1

Reviewed By Expert Panel

CA002640

rs_397509140

2 SubmittersRCV000577285 RCV000661047

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.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.4253T>G (p.Leu1418Ter)

SNV
Germline

Chr17:43082508

Pathogenic

Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 1

Reviewed By Expert Panel

CA002733

rs_397509157

2 SubmittersRCV000577149 RCV000661301

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.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.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.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.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.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.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.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.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.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.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.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.5072C>G (p.Thr1691Arg)

SNV
Germline

Chr17:43067610

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA003189

rs_80357034

4 SubmittersRCV001077998 RCV000577017 RCV002257395

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.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.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.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.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.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.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.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.5194-2A>C

SNV
Germline

Chr17:43057137

Likely pathogenic

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

Criteria Provided
Single Submitter

CA003346

rs_80358069

3 SubmittersRCV000571663 RCV000576907 RCV001072506

NM_007294.4(BRCA1):c.5201T>C (p.Phe1734Ser)

SNV
Germline

Chr17:43057128

Pathogenic

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

Criteria Provided
Single Submitter

CA003352

rs_397509237

3 SubmittersRCV001072513 RCV000576932 RCV005781925

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.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.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.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.5277+1G>C

SNV
Germline

Chr17:43057051

Pathogenic

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

Criteria Provided
Single Submitter

CA003420

rs_80358150

3 SubmittersRCV000576985 RCV001072607 RCV006362044

NM_007294.4(BRCA1):c.5278-2A>T

SNV
Germline

Chr17:43051119

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA003437

rs_397509253

4 SubmittersRCV000577095 RCV001077158 RCV000771915

NM_007294.4(BRCA1):c.5293G>T (p.Glu1765Ter)

SNV
Germline

Chr17:43051102

Pathogenic

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

Reviewed By Expert Panel

CA003451

rs_397509256

4 SubmittersRCV000661300 RCV000577333 RCV000583192

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.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.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.5377A>T (p.Lys1793Ter)

SNV
Germline

Chr17:43049150

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Familial cancer of breast

Reviewed By Expert Panel

CA003540

rs_397509274

4 SubmittersRCV000660975 RCV000577253

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.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.5467+5G>C

SNV
Germline

Chr17:43047638

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA003614

rs_397509287

4 SubmittersRCV000577140 RCV001076242 RCV006258991 RCV004018962

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.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.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.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.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.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.678T>A (p.Cys226Ter)

SNV
Germline

Chr17:43094853

Pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Familial cancer of breast

Reviewed By Expert Panel

CA003811

rs_397509308

3 SubmittersRCV000256652 RCV002288554

NM_007294.4(BRCA1):c.788G>T (p.Gly263Val)

SNV
Germline

Chr17:43094743

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA003872

rs_397509319

4 SubmittersRCV000577401 RCV001523965

NM_007294.4(BRCA1):c.791G>A (p.Ser264Asn)

SNV
Germline

Chr17:43094740

Conflicting classifications of pathogenicity

Familial cancer of breast
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA003877

rs_397509322

3 SubmittersRCV000576940 RCV004589542 RCV003157387

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.81-6T>A

SNV
Germline

Chr17:43115785

Likely pathogenic

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

Reviewed By Expert Panel

CA003915

rs_80358179

5 SubmittersRCV000577779 RCV001076940 RCV001582550 RCV002426608 RCV006258993

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.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.8T>G (p.Leu3Ter)

SNV
Germline

Chr17:43124089

Pathogenic

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

Reviewed By Expert Panel

CA003956

rs_397509332

4 SubmittersRCV000577822 RCV000661064 RCV000562883

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_152564.5(VPS13B):c.9331-1G>T

SNV
Germline

Chr8:99832368

Pathogenic

Cohen syndrome
Condition: not provided
VPS13B-related disorder
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA264152

rs_386834119

8 SubmittersRCV000050112 RCV003313035 RCV003415820 RCV005890364

NM_080860.4(RSPH1):c.275-2A>C

SNV
Germline

Chr21:42486463

Pathogenic

Primary ciliary dyskinesia 24
Kartagener syndrome
Primary ciliary dyskinesia
Condition: not provided
RSPH1-related disorder
Familial cancer of breast
Ovarian serous cystadenocarcinoma

Criteria Provided
Multiple Submitters
No Conflicts

CA144911

rs_151107532

16 SubmittersRCV000057512 RCV000190924 RCV000467674 RCV000726589 RCV003974945 RCV005890401 RCV005890402

NM_024675.4(PALB2):c.2057G>A (p.Arg686Lys)

SNV
Germline

Chr16:23630097

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
not specified
PALB2-related disorder

Criteria Provided
Conflicting Classifications

CA279492933

rs_267604470

8 SubmittersRCV000774635 RCV000704434 RCV001572169 RCV003226185 RCV004537269

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.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.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_000249.4(MLH1):c.-27C>A

SNV
Germline

Chr3:36993521

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Colorectal cancer, hereditary nonpolyposis, type 2
Hereditary nonpolyposis colorectal neoplasms
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA009494

rs_587779001

9 SubmittersRCV000132376 RCV000214578 RCV000583780 RCV000662782 RCV000695005 RCV005357453

NM_000249.4(MLH1):c.1039-2A>G

SNV
Germline/somatic

Chr3:37025635

Likely pathogenic

Lynch syndrome
Condition: not provided
Colorectal cancer, hereditary nonpolyposis, type 2
MLH1-related disorder
Hereditary nonpolyposis colorectal neoplasms
Familial cancer of breast

Reviewed By Expert Panel

CA004118

rs_267607815

7 SubmittersRCV000075090 RCV003441739 RCV003137609 RCV003390766 RCV002514335 RCV005357455

NM_000249.4(MLH1):c.117-11T>A

SNV
Germline

Chr3:36996608

Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA004599

rs_267607711

2 SubmittersRCV002331956 RCV005370206

NM_000249.4(MLH1):c.1409+1G>C

SNV
Germline

Chr3:37026008

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colon cancer
Hereditary nonpolyposis colorectal neoplasms
Colorectal cancer, hereditary nonpolyposis, type 2
Familial cancer of breast

Reviewed By Expert Panel

CA005254

rs_267607825

6 SubmittersRCV000075193 RCV002390216 RCV002281908 RCV002513800 RCV003451025 RCV005357460

NM_000249.4(MLH1):c.1558+13T>A

SNV
Germline

Chr3:37028945

Likely pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

rs_267607834

1 SubmittersRCV005362132

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_000251.3(MSH2):c.-225G>C

SNV
Germline

Chr2:47402967

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Familial cancer of breast
MSH2-related disorder

Criteria Provided
Conflicting Classifications

CA021836

rs_138068023

6 SubmittersRCV000165718 RCV000409105 RCV002055083 RCV001567568 RCV005357479 RCV004734625

NM_000251.3(MSH2):c.212-478T>G

SNV
Germline

Chr2:47407923

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Hereditary nonpolyposis colorectal neoplasms

Reviewed By Expert Panel

CA020095

rs_587779138

4 SubmittersRCV000076396 RCV002415566 RCV005357488 RCV005089520

NM_000251.3(MSH2):c.2634+5G>C

SNV
Germline

Chr2:47480876

Pathogenic

Lynch syndrome
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 1
Familial cancer of breast

Reviewed By Expert Panel

CA020838

rs_267608017

8 SubmittersRCV000076521 RCV000491990 RCV001063481 RCV003452925 RCV005364970

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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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_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.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.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.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.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.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.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.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.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.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.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_000048.4(ASL):c.446+1G>A

SNV
Germline

Chr7:66083175

Pathogenic

Condition: not provided
Argininosuccinate lyase deficiency
Malignant tumor of urinary bladder
Acute myeloid leukemia
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA285298

rs_142637046

17 SubmittersRCV000078011 RCV000409952 RCV005886136 RCV005886135 RCV005886134

NM_000286.3(PEX12):c.451C>T (p.Arg151Cys)

SNV
Germline

Chr17:35577267

Conflicting classifications of pathogenicity

not specified
Peroxisome biogenesis disorder 3A (Zellweger)
Condition: not provided
Inborn genetic diseases
PEX12-related disorder
Thyroid cancer, nonmedullary, 1
Sarcoma
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA145996

rs_138731505

10 SubmittersRCV000078561 RCV000970690 RCV001729380 RCV002515755 RCV004549499 RCV005886195 RCV005886194 RCV005886193

NM_001360.3(DHCR7):c.964-1G>C

SNV
Germline

Chr11:71435840

Pathogenic/Likely pathogenic

Condition: not provided
Smith-Lemli-Opitz syndrome
Inborn genetic diseases
DHCR7-related disorder
See cases
Thymoma
Melanoma
Familial cancer of breast
Acute myeloid leukemia
Malignant tumor of urinary bladder
Malignant tumor of esophagus
Nonpapillary renal cell carcinoma
Thyroid cancer, nonmedullary, 1
Cholangiocarcinoma
Cervical cancer
Uveal melanoma
Sarcoma
Ovarian serous cystadenocarcinoma

Criteria Provided
Multiple Submitters
No Conflicts

CA090917

rs_138659167

62 SubmittersRCV000079661 RCV000180570 RCV000623789 RCV003390775 RCV002251968 RCV005886297 RCV005886299 RCV005886288 RCV005886289 RCV005886290 RCV005886291 RCV005886292 RCV005886298 RCV005886300 RCV005886293 RCV005886294 RCV005886295 RCV005886296

NM_001849.4(COL6A2):c.1970-3C>A

SNV
Germline

Chr21:46125782

Conflicting classifications of pathogenicity

Collagen 6-related myopathy
Condition: not provided
Bethlem myopathy 1A
Ullrich congenital muscular dystrophy 1A
Bethlem myopathy 1A
Tip-toe gait
Myosclerosis
Bethlem myopathy 1B
Ullrich congenital muscular dystrophy 1B
not specified
Lung cancer
Familial cancer of breast
Limb-girdle muscular dystrophy
Ovarian serous cystadenocarcinoma
Melanoma
Acute myeloid leukemia
Malignant tumor of esophagus
Nonpapillary renal cell carcinoma
Cervical cancer

Criteria Provided
Conflicting Classifications

CA221815

rs_201879417

11 SubmittersRCV000300588 RCV000415855 RCV000709829 RCV001084118 RCV003319318 RCV005394344 RCV005417455 RCV005886336 RCV005886329 RCV005625276 RCV005886334 RCV005886335 RCV005886330 RCV005886331 RCV005886332 RCV005886333

NM_004369.4(COL6A3):c.4184G>A (p.Arg1395Gln)

SNV
Germline

Chr2:237371833

Conflicting classifications of pathogenicity

not specified
Collagen 6-related myopathy
Condition: not provided
Bethlem myopathy 1A
Dystonia 27
Bethlem myopathy 1A
Ullrich congenital muscular dystrophy 1A
Dystonia 27
Clear cell carcinoma of kidney
Malignant tumor of esophagus
Familial cancer of breast
Thymoma

Criteria Provided
Conflicting Classifications

CA147959

rs_80272723

13 SubmittersRCV000080934 RCV000362566 RCV000417628 RCV001079176 RCV002298466 RCV002483144 RCV005886469 RCV005886468 RCV005886467 RCV005886470

NM_014141.6(CNTNAP2):c.3716-6C>G

SNV
Germline

Chr7:148409385

Conflicting classifications of pathogenicity

not specified
Cortical dysplasia-focal epilepsy syndrome
Autism, susceptibility to, 15
Cortical dysplasia-focal epilepsy syndrome
Condition: not provided
Malignant lymphoma, large B-cell, diffuse
Acute myeloid leukemia
Uterine corpus endometrial carcinoma
Chronic lymphocytic leukemia/small lymphocytic lymphoma
Lymphoma
Nonpapillary renal cell carcinoma
Lung cancer
Familial cancer of breast
Ovarian cancer

Criteria Provided
Conflicting Classifications

CA285688

rs_77025884

14 SubmittersRCV000081603 RCV000576591 RCV003224139 RCV004706503 RCV005886551 RCV005886548 RCV005886554 RCV005886555 RCV005886552 RCV005886549 RCV005886553 RCV005886547 RCV005886550

NM_015102.5(NPHP4):c.3329C>T (p.Ala1110Val)

SNV
Germline

Chr1:5867883

Conflicting classifications of pathogenicity

not specified
Nephronophthisis
Senior-Loken syndrome 4
Nephronophthisis 4
Condition: not provided
Kidney disorder
Nephronophthisis 4
Senior-Loken syndrome 4
Malignant tumor of esophagus
Familial cancer of breast
Acute myeloid leukemia
Cervical cancer
Sarcoma
Thyroid cancer, nonmedullary, 1
Melanoma

Criteria Provided
Conflicting Classifications

CA223178

rs_139767853

16 SubmittersRCV000081715 RCV000292444 RCV000331197 RCV001093742 RCV001573175 RCV002294019 RCV002498430 RCV005886565 RCV005886563 RCV005886564 RCV005886566 RCV005886567 RCV005886568 RCV005886569

NM_152564.5(VPS13B):c.3866C>G (p.Thr1289Ser)

SNV
Germline

Chr8:99481798

Conflicting classifications of pathogenicity

Condition: not provided
Cohen syndrome
Inborn genetic diseases
Lung cancer
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA223442

rs_145569846

11 SubmittersRCV000081898 RCV000530711 RCV002311681 RCV005886614 RCV005886613

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.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.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.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.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.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.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.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.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.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.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_152384.3(BBS5):c.551A>G (p.Asn184Ser)

SNV
Germline

Chr2:169493769

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Cone dystrophy
Bardet-Biedl syndrome
Uterine corpus endometrial carcinoma
Colorectal cancer
Familial cancer of breast
Intellectual disability
Retinal dystrophy
Colon adenocarcinoma
Sarcoma
Lung cancer
Gastric cancer
Thyroid cancer, nonmedullary, 1
Melanoma
Cholangiocarcinoma

Criteria Provided
Conflicting Classifications

CA179794

rs_137853921

14 SubmittersRCV000087001 RCV000152843 RCV000504860 RCV001257073 RCV005887784 RCV005887777 RCV005887775 RCV005625287 RCV004815182 RCV005887776 RCV005887778 RCV005887783 RCV005887779 RCV005887780 RCV005887781 RCV005887782

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.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.5468-40T>A

SNV
Germline

Chr17:43045842

Likely pathogenic

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
Single Submitter

CA003626

rs_80358151

2 SubmittersRCV000112667 RCV005394366

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.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.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.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.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.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.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.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

NC_000016.10:g.23641315C>G

SNV
Germline

Chr16:23641315

Conflicting classifications of pathogenicity

Fanconi anemia complementation group N
Condition: not provided
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA269467

rs_138200248

4 SubmittersRCV000282144 RCV000829438 RCV001030094

NM_024675.4(PALB2):c.1000T>G (p.Tyr334Asp)

SNV
Germline

Chr16:23635546

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group N
Condition: not provided
Familial cancer of breast
not specified

Criteria Provided
Conflicting Classifications

CA193504

rs_202241382

8 SubmittersRCV000165476 RCV000402501 RCV000483117 RCV001087026 RCV004595925

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.1010T>C (p.Leu337Ser)

SNV
Germline

Chr16:23635536

Conflicting classifications of pathogenicity

Familial cancer of breast
not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
Fanconi anemia complementation group N
Malignant tumor of breast
Breast and/or ovarian cancer

Criteria Provided
Conflicting Classifications

CA151212

rs_45494092

29 SubmittersRCV000114450 RCV000121752 RCV000127306 RCV000755592 RCV001116860 RCV001354445 RCV001798291

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.110G>A (p.Arg37His)

SNV
Germline

Chr16:23637951

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

Criteria Provided
Conflicting Classifications

CA288386

rs_202194596

15 SubmittersRCV000114460 RCV000116061 RCV000212768 RCV000780571 RCV002483177 RCV004739369

NM_024675.4(PALB2):c.1145G>T (p.Ser382Ile)

SNV
Germline

Chr16:23635401

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA269483

rs_515726063

11 SubmittersRCV000114461 RCV000483203 RCV000567033 RCV002483178

NM_024675.4(PALB2):c.1194G>A (p.Val398=)

SNV
Germline

Chr16:23635352

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
not specified
Fanconi anemia complementation group N
Condition: not provided
Malignant tumor of breast
Breast and/or ovarian cancer
Breast-ovarian cancer, familial, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA151219

rs_61755173

30 SubmittersRCV000114462 RCV000127307 RCV000212786 RCV000327932 RCV000588666 RCV001357080 RCV001170350 RCV005234992

NM_024675.4(PALB2):c.11C>T (p.Pro4Leu)

SNV
Germline

Chr16:23641147

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Esophageal atresia/tracheoesophageal fistula
Pancreatic cancer, susceptibility to, 3
Familial cancer of breast
Fanconi anemia complementation group N
Condition: not provided
Malignant tumor of breast
not specified
Breast and/or ovarian cancer
PALB2-related disorder

Criteria Provided
Conflicting Classifications

CA288392

rs_45619737

16 SubmittersRCV000114464 RCV000116063 RCV000515208 RCV000590674 RCV001358373 RCV001797625 RCV001798292 RCV004739370

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.13C>T (p.Pro5Ser)

SNV
Germline

Chr16:23641145

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
PALB2-related disorder
Breast-ovarian cancer, familial, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA269492

rs_377085677

17 SubmittersRCV000114472 RCV000116068 RCV000589509 RCV001818256 RCV004739372 RCV005359040

NM_024675.4(PALB2):c.1544A>G (p.Lys515Arg)

SNV
Germline

Chr16:23635002

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Familial ovarian cancer
Breast and/or ovarian cancer
Hereditary cancer
PALB2-related disorder

Criteria Provided
Conflicting Classifications

CA163908

rs_515726072

21 SubmittersRCV000114479 RCV000129175 RCV000235723 RCV000586359 RCV001355376 RCV003149776 RCV004700413 RCV004528789

NM_024675.4(PALB2):c.1633G>T (p.Glu545Ter)

SNV
Germline

Chr16:23634913

Pathogenic

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
Malignant tumor of breast
Gastric cancer
PALB2-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA167823

rs_180177103

14 SubmittersRCV000114484 RCV000131237 RCV000255843 RCV001357967 RCV003162529 RCV004529917

NM_024675.4(PALB2):c.1699C>T (p.His567Tyr)

SNV
Germline

Chr16:23630455

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA288416

rs_370422990

18 SubmittersRCV000114495 RCV000116072 RCV000588850 RCV001171429 RCV001292820 RCV004529918 RCV005359042

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.2200A>T (p.Thr734Ser)

SNV
Germline

Chr16:23629954

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Malignant tumor of breast
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA288435

rs_45543843

13 SubmittersRCV000114515 RCV000116081 RCV000586054 RCV000855600 RCV001356351 RCV001358251

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.232G>A (p.Val78Ile)

SNV
Germline

Chr16:23636314

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Malignant tumor of breast
Breast and/or ovarian cancer
PALB2-related disorder

Criteria Provided
Conflicting Classifications

CA288441

rs_515726085

17 SubmittersRCV000114522 RCV000116083 RCV000212771 RCV000587015 RCV001356931 RCV003149780 RCV004529921

NM_024675.4(PALB2):c.2386G>T (p.Gly796Ter)

SNV
Germline

Chr16:23629768

Pathogenic/Likely pathogenic

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
Fanconi anemia complementation group N
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA163823

rs_180177112

15 SubmittersRCV000114524 RCV000129116 RCV000236024 RCV003330435

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.2514+3A>G

SNV
Germline

Chr16:23629637

Conflicting classifications of pathogenicity

Familial cancer of breast
Condition: not provided
Hereditary cancer-predisposing syndrome
Breast and/or ovarian cancer
Familial pancreatic carcinoma
Fanconi anemia complementation group N
Breast-ovarian cancer, familial, susceptibility to, 5
Pancreatic cancer, susceptibility to, 3

Criteria Provided
Conflicting Classifications

CA269537

rs_515726088

9 SubmittersRCV000114530 RCV000160843 RCV000573333 RCV003149781 RCV005359046 RCV005016384

PALB2:c.2515-1G>T

SNV
Germline

Chr16:23629276

Pathogenic/Likely pathogenic

Pancreatic cancer, susceptibility to, 3
Condition: not provided
Familial cancer of breast
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA114879

rs_587776417

7 SubmittersRCV000001312 RCV000133479 RCV001030317 RCV001171466 RCV002426654

NM_024675.4(PALB2):c.2559C>T (p.Gly853=)

SNV
Germline

Chr16:23629231

Likely pathogenic

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Hereditary cancer-predisposing syndrome
PALB2-related cancer predisposition

Reviewed By Expert Panel

CA269540

rs_180177115

12 SubmittersRCV000114536 RCV000116088 RCV000212813 RCV001171467 RCV005639028

NM_024675.4(PALB2):c.2586+10A>G

SNV
Germline

Chr16:23629194

Conflicting classifications of pathogenicity

Familial cancer of breast
not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
Fanconi anemia complementation group N
Endometrial carcinoma
Breast and/or ovarian cancer

Criteria Provided
Conflicting Classifications

CA292645

rs_373321719

17 SubmittersRCV000114537 RCV000127295 RCV000580770 RCV000588544 RCV001118200 RCV001358400 RCV003149782

NM_024675.4(PALB2):c.2674G>A (p.Glu892Lys)

SNV
Germline

Chr16:23626310

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA167879

rs_45476495

22 SubmittersRCV000114549 RCV000131257 RCV000483553 RCV000587708 RCV001118198 RCV003483473 RCV005016385 RCV004739374

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.2732C>T (p.Thr911Ile)

SNV
Germline

Chr16:23626252

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA269564

rs_180177123

7 SubmittersRCV000114553 RCV000454363 RCV000589395

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.2752C>T (p.Pro918Ser)

SNV
Germline

Chr16:23624091

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Inherited breast cancer and ovarian cancer

Criteria Provided
Conflicting Classifications

CA192533

rs_515726094

12 SubmittersRCV000114556 RCV000165106 RCV000478088 RCV001171432 RCV006436433

NM_024675.4(PALB2):c.2761C>T (p.Gln921Ter)

SNV
Germline

Chr16:23624082

Pathogenic

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA269569

rs_180177124

4 SubmittersRCV001030342 RCV003162530

NM_024675.4(PALB2):c.2773G>C (p.Val925Leu)

SNV
Germline

Chr16:23624070

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
Fanconi anemia complementation group N
Familial cancer of breast
Pancreatic cancer, susceptibility to, 3
Breast and/or ovarian cancer

Criteria Provided
Conflicting Classifications

CA164110

rs_180177125

13 SubmittersRCV000114558 RCV000129279 RCV000235847 RCV000764047 RCV001798299

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.2835-1G>C

SNV
Germline

Chr16:23623131

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA331795

rs_515726099

11 SubmittersRCV000114567 RCV000220116 RCV001171468 RCV004589552 RCV005016386 RCV006554450

NM_024675.4(PALB2):c.2851T>C (p.Ser951Pro)

SNV
Germline

Chr16:23623114

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Fanconi anemia complementation group N
Condition: not provided
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA161355

rs_149522412

22 SubmittersRCV000129725 RCV000121763 RCV000397940 RCV000589520 RCV001030355 RCV005359047

NM_024675.4(PALB2):c.2869A>C (p.Lys957Gln)

SNV
Germline

Chr16:23623096

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
Fanconi anemia complementation group N
Familial cancer of breast
Pancreatic cancer, susceptibility to, 3
not specified

Criteria Provided
Conflicting Classifications

CA299741

rs_515726103

13 SubmittersRCV000114573 RCV000160848 RCV000212818 RCV000764046 RCV003226198

NM_024675.4(PALB2):c.2903C>G (p.Ala968Gly)

SNV
Germline

Chr16:23623062

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA167762

rs_369132015

15 SubmittersRCV000114574 RCV000131197 RCV000215879 RCV001704012 RCV004545746 RCV005887873 RCV005394375

NM_024675.4(PALB2):c.298C>T (p.Leu100Phe)

SNV
Germline

Chr16:23636248

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA288454

rs_61756147

18 SubmittersRCV000114577 RCV000116095 RCV000212772 RCV001192907 RCV001249253 RCV001355228 RCV001119843 RCV003492442 RCV004528791

NM_024675.4(PALB2):c.3056T>C (p.Val1019Ala)

SNV
Germline

Chr16:23621419

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Pancreatic cancer, susceptibility to, 3

Criteria Provided
Conflicting Classifications

CA168345

rs_376619846

12 SubmittersRCV000114589 RCV000131550 RCV000235226 RCV001192771 RCV005359048

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.3128G>C (p.Gly1043Ala)

SNV
Germline

Chr16:23614077

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

Criteria Provided
Conflicting Classifications

CA168501

rs_377713277

14 SubmittersRCV000114598 RCV000131630 RCV000485289 RCV000780560 RCV002483180

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.3202-1G>C

SNV
Germline

Chr16:23608013

Pathogenic/Likely pathogenic

Familial cancer of breast
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA269608

rs_515726111

9 SubmittersRCV000114605 RCV000160851 RCV002321588

NM_024675.4(PALB2):c.3251C>T (p.Ser1084Leu)

SNV
Germline

Chr16:23607963

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
Pancreatic cancer, susceptibility to, 3
Familial cancer of breast
Fanconi anemia complementation group N
Fanconi anemia complementation group N
Malignant tumor of breast
not specified
PALB2-related disorder

Criteria Provided
Conflicting Classifications

CA239946

rs_62625271

17 SubmittersRCV000114610 RCV000160852 RCV000656940 RCV000764043 RCV001116749 RCV001358132 RCV003493439 RCV004739377

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.3321G>A (p.Leu1107=)

SNV
Germline

Chr16:23607893

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA269613

rs_515726113

4 SubmittersRCV001030409 RCV001019988

NM_024675.4(PALB2):c.3350+11A>G

SNV
Germline

Chr16:23607853

Conflicting classifications of pathogenicity

not specified
Familial cancer of breast
Fanconi anemia complementation group N

Criteria Provided
Conflicting Classifications

CA269616

rs_515726114

5 SubmittersRCV000424366 RCV001030411 RCV002466432

NM_024675.4(PALB2):c.3350+4A>G

SNV
Germline

Chr16:23607860

Likely pathogenic

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 5
PALB2-related disorder
PALB2-related cancer predisposition
Malignant tumor of breast

Reviewed By Expert Panel

CA269618

rs_180177136

18 SubmittersRCV000114621 RCV000213830 RCV000433683 RCV003315407 RCV004528794 RCV005359051 RCV004798779

NM_024675.4(PALB2):c.3356T>C (p.Leu1119Pro)

SNV
Germline

Chr16:23603664

Conflicting classifications of pathogenicity

Familial cancer of breast
Condition: not provided
Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group N
Breast-ovarian cancer, familial, susceptibility to, 5
Pancreatic cancer, susceptibility to, 3

Criteria Provided
Conflicting Classifications

CA331796

rs_515726116

8 SubmittersRCV000114623 RCV000481742 RCV000574823 RCV005016389

NM_024675.4(PALB2):c.3428T>A (p.Leu1143His)

SNV
Germline

Chr16:23603592

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA288478

rs_62625284

24 SubmittersRCV000114625 RCV000116104 RCV000585950 RCV000764041 RCV001004833 RCV001804169 RCV004528795 RCV005394376

NM_024675.4(PALB2):c.344G>T (p.Gly115Val)

SNV
Germline

Chr16:23636202

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
Malignant tumor of breast
Breast and/or ovarian cancer
PALB2-related disorder

Criteria Provided
Conflicting Classifications

CA193686

rs_145598272

14 SubmittersRCV000114628 RCV000165559 RCV000589320 RCV001357627 RCV003149789 RCV004528796

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.48+1G>C

SNV
Germline

Chr16:23641109

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA269629

rs_515726118

4 SubmittersRCV000213648 RCV000236723 RCV001030106

NM_024675.4(PALB2):c.503C>A (p.Ser168Ter)

SNV
Germline

Chr16:23636043

Pathogenic

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA269633

rs_515726122

7 SubmittersRCV000114642 RCV000562468 RCV003332116

NM_024675.4(PALB2):c.505C>A (p.Leu169Ile)

SNV
Germline

Chr16:23636041

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA269636

rs_180177086

3 SubmittersRCV001030154 RCV002336247

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.620C>G (p.Pro207Arg)

SNV
Germline

Chr16:23635926

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
PALB2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA331799

rs_515726125

8 SubmittersRCV000114649 RCV000776330 RCV001572249 RCV006554451

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_024675.4(PALB2):c.656A>G (p.Asp219Gly)

SNV
Germline

Chr16:23635890

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Hereditary cancer
PALB2-related disorder
Breast-ovarian cancer, familial, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA294094

rs_45594034

19 SubmittersRCV000114652 RCV000129603 RCV000589693 RCV000855601 RCV003492444 RCV004542814 RCV005359053

NM_024675.4(PALB2):c.751C>T (p.Gln251Ter)

SNV
Germline

Chr16:23635795

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA269645

rs_180177091

17 SubmittersRCV000114657 RCV000210097 RCV000413603 RCV003492446 RCV004813057 RCV004796018 RCV006554452

NM_024675.4(PALB2):c.814G>A (p.Glu272Lys)

SNV
Germline

Chr16:23635732

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group N
Familial cancer of breast
Pancreatic cancer, susceptibility to, 3
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA193995

rs_515726127

11 SubmittersRCV000114664 RCV000165689 RCV002483181 RCV003477491 RCV004595926

NM_024675.4(PALB2):c.897T>C (p.Ser299=)

SNV
Germline

Chr16:23635649

Conflicting classifications of pathogenicity

Familial cancer of breast
not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
Fanconi anemia complementation group N
Breast and/or ovarian cancer

Criteria Provided
Conflicting Classifications

CA269660

rs_180177095

11 SubmittersRCV000114668 RCV000419649 RCV000566337 RCV000858848 RCV001118310 RCV001798304

NM_024675.4(PALB2):c.899C>T (p.Thr300Ile)

SNV
Germline

Chr16:23635647

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA161336

rs_528541334

14 SubmittersRCV000114669 RCV000121751 RCV000219489 RCV001284670 RCV001354467

NM_024675.4(PALB2):c.94C>G (p.Leu32Val)

SNV
Germline

Chr16:23638084

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA161318

rs_151316635

20 SubmittersRCV000114673 RCV000116117 RCV000121744 RCV000656932 RCV001119845 RCV001357251 RCV004529927 RCV005016391

NM_007194.4(CHEK2):c.684-4C>G

SNV
Germline

Chr22:28712021

Conflicting classifications of pathogenicity

Condition: not provided
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA230676

rs_121908695

3 SubmittersRCV000114754 RCV000546556 RCV001025721

NM_007194.4(CHEK2):c.1336A>G (p.Asn446Asp)

SNV
Germline

Chr22:28695166

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA230682

rs_121908705

19 SubmittersRCV000114765 RCV000160437 RCV000196666 RCV000449435 RCV000515378 RCV001356532 RCV001798305 RCV005414454 RCV005600660

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_007194.4(CHEK2):c.1259+1G>C

SNV
Germline

Chr22:28695709

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA230686

rs_121908707

5 SubmittersRCV000114767 RCV000566906 RCV000816882

NM_007194.4(CHEK2):c.444+1G>T

SNV
Germline

Chr22:28725242

Pathogenic/Likely pathogenic

Condition: not provided
Familial cancer of breast
Hereditary cancer-predisposing syndrome
CHEK2-related cancer predisposition
Familial prostate cancer
Bone osteosarcoma

Criteria Provided
Multiple Submitters
No Conflicts

CA230689

rs_121908698

9 SubmittersRCV000114770 RCV000199852 RCV001022484 RCV005394377

NM_002485.5(NBN):c.1262T>C (p.Leu421Ser)

SNV
Germline

Chr8:89955418

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Microcephaly, normal intelligence and immunodeficiency
not specified
Microcephaly, normal intelligence and immunodeficiency
Aplastic anemia
Acute lymphoid leukemia
Familial cancer of breast
Malignant tumor of breast

Criteria Provided
Conflicting Classifications

CA230729

rs_104895032

24 SubmittersRCV000114875 RCV000115780 RCV000123203 RCV000212745 RCV000515275 RCV000757930 RCV001358304

NM_000059.4(BRCA2):c.5555T>A (p.Val1852Asp)

SNV
Germline

Chr13:32339910

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA022558

rs_483352930

2 SubmittersRCV000114983 RCV003157407

NM_000051.4(ATM):c.1009C>T (p.Arg337Cys)

SNV
Germline

Chr11:108247071

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided
not specified
Malignant tumor of breast
Familial cancer of breast
Familial cancer of breast
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

CA286702

rs_138398778

22 SubmittersRCV000115130 RCV000168399 RCV000656756 RCV000780894 RCV001356891 RCV001762215 RCV005042205

NM_000051.4(ATM):c.1010G>A (p.Arg337His)

SNV
Germline/somatic

Chr11:108247072

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Ataxia-telangiectasia syndrome
not specified
Familial cancer of breast
Malignant tumor of breast
Breast and/or ovarian cancer
Neoplasm

Criteria Provided
Conflicting Classifications

CA286705

rs_202160435

21 SubmittersRCV000115131 RCV000211955 RCV000204640 RCV001174655 RCV001257472 RCV001354564 RCV003492451 RCV005229902

NM_000051.4(ATM):c.1138T>A (p.Tyr380Asn)

SNV
Germline

Chr11:108249005

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA286714

rs_34083085

10 SubmittersRCV000115135 RCV000464763 RCV000590112 RCV004589554 RCV004767076

NM_000051.4(ATM):c.1229T>C (p.Val410Ala)

SNV
Germline

Chr11:108249096

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
not specified
Condition: not provided
Carcinoma of colon
Breast and/or ovarian cancer
ATM-related disorder
Familial cancer of breast
Intellectual disability

Criteria Provided
Conflicting Classifications

CA157210

rs_56128736

31 SubmittersRCV000115136 RCV000119195 RCV000120171 RCV000590142 RCV001356635 RCV001798307 RCV004549538 RCV004589555 RCV005625289

NM_000051.4(ATM):c.1235G>A (p.Trp412Ter)

SNV
Germline

Chr11:108249102

Pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Malignant tumor of breast
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA286720

rs_587779813

6 SubmittersRCV000115138 RCV000567498 RCV001038728 RCV001358353 RCV004019605

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.1339C>T (p.Arg447Ter)

SNV
Germline

Chr11:108250804

Pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided
Ataxia-telangiectasia syndrome
Breast cancer, susceptibility to
Gastric cancer
Familial cancer of breast
ATM-related cancer predisposition

Criteria Provided
Multiple Submitters
No Conflicts

CA274271

rs_587779815

17 SubmittersRCV000115141 RCV000169409 RCV000211960 RCV001258117 RCV003162534 RCV003460799 RCV006554454

NM_000051.4(ATM):c.1444A>C (p.Lys482Gln)

SNV
Germline

Chr11:108250909

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided
not specified
Familial cancer of breast
ATM-related disorder

Criteria Provided
Conflicting Classifications

CA286729

rs_202173660

23 SubmittersRCV000115142 RCV000197378 RCV000211962 RCV000779759 RCV001762217 RCV004739386

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.170G>A (p.Trp57Ter)

SNV
Germline

Chr11:108227873

Pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided
Familial cancer of breast
Ataxia-telangiectasia syndrome
Breast cancer, susceptibility to
Malignant tumor of breast
Ataxia-telangiectasia syndrome
Familial cancer of breast
Ataxia-telangiectasia syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA286735

rs_587779818

20 SubmittersRCV000115145 RCV000197540 RCV000211942 RCV001257476 RCV001258115 RCV001509557 RCV005042206

NM_000051.4(ATM):c.1744T>C (p.Phe582Leu)

SNV
Germline

Chr11:108251973

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Ataxia-telangiectasia syndrome
Condition: not provided
Malignant tumor of breast
Breast and/or ovarian cancer
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA151457

rs_2235006

35 SubmittersRCV000115146 RCV000120118 RCV000122822 RCV000588398 RCV001269378 RCV001798308 RCV003315634

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.202A>G (p.Ile68Val)

SNV
Germline

Chr11:108229194

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast
Ataxia-telangiectasia syndrome
Condition: not provided
Carcinoma of colon
Breast and/or ovarian cancer
Familial cancer of breast
ATM-related disorder

Criteria Provided
Conflicting Classifications

CA286738

rs_35389822

16 SubmittersRCV000115148 RCV000199503 RCV000515328 RCV000587881 RCV001355668 RCV003149792 RCV003467020 RCV004739387

NM_000051.4(ATM):c.2275A>G (p.Ser759Gly)

SNV
Germline

Chr11:108257505

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast
Ataxia-telangiectasia syndrome
Condition: not provided
Breast and/or ovarian cancer
not specified
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA286747

rs_148705269

17 SubmittersRCV000115151 RCV000205470 RCV000515206 RCV000589762 RCV001798310 RCV002469010 RCV003460800

NM_000051.4(ATM):c.2289T>A (p.Phe763Leu)

SNV
Germline

Chr11:108257519

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
not specified
Familial cancer of breast
Ataxia-telangiectasia syndrome
Condition: not provided
Familial ovarian cancer
Breast and/or ovarian cancer
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA286750

rs_34231402

27 SubmittersRCV000115152 RCV000122834 RCV000211979 RCV000515303 RCV000588896 RCV001355251 RCV001798311 RCV004589556

NM_000051.4(ATM):c.2539A>G (p.Met847Val)

SNV
Germline

Chr11:108267243

Conflicting classifications of pathogenicity

Condition: not provided
Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast
ATM-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA286760

rs_587779823

6 SubmittersRCV000115157 RCV000689269 RCV001015804 RCV004566994 RCV005364991

NM_000051.4(ATM):c.2564T>C (p.Met855Thr)

SNV
Germline

Chr11:108267268

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA286763

rs_587779824

7 SubmittersRCV000115158 RCV000565873 RCV000698456 RCV002288587 RCV005229903

NM_000051.4(ATM):c.2578G>A (p.Asp860Asn)

SNV
Germline

Chr11:108267282

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA286766

rs_587779825

6 SubmittersRCV000115159 RCV000534079 RCV000580576 RCV003460801

NM_000051.4(ATM):c.2608A>G (p.Asn870Asp)

SNV
Germline

Chr11:108267312

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
ATM-related disorder
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA286769

rs_61734354

18 SubmittersRCV000115160 RCV000168041 RCV000211984 RCV000858203 RCV000767896 RCV001354304 RCV004549542 RCV004589558

NM_000051.4(ATM):c.2630G>C (p.Ser877Thr)

SNV
Germline

Chr11:108267334

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA286772

rs_370269552

12 SubmittersRCV000115161 RCV000211985 RCV001083203 RCV001174578 RCV002288588

NM_000051.4(ATM):c.2638+2T>C

SNV
Germline

Chr11:108267344

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA286775

rs_587779826

14 SubmittersRCV000115162 RCV000211986 RCV000477335 RCV001171402 RCV003330437

NM_000051.4(ATM):c.2770C>T (p.Arg924Trp)

SNV
Germline

Chr11:108268541

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
ATM-related disorder

Criteria Provided
Conflicting Classifications

CA286776

rs_55723361

23 SubmittersRCV000115163 RCV000232085 RCV000590158 RCV000763692 RCV001549271 RCV002288589 RCV004739388

NM_000051.4(ATM):c.2919A>G (p.Leu973=)

SNV
Germline

Chr11:108271144

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Ataxia-telangiectasia syndrome
Malignant tumor of breast
not specified
ATM-related disorder
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA286785

rs_587779829

12 SubmittersRCV000115166 RCV000211990 RCV000463962 RCV001355592 RCV004525873 RCV004549544 RCV004589559

NM_000051.4(ATM):c.295A>G (p.Ser99Gly)

SNV
Germline

Chr11:108229287

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
ATM-related disorder

Criteria Provided
Conflicting Classifications

CA286794

rs_137882485

19 SubmittersRCV000115169 RCV000196996 RCV000515313 RCV000588846 RCV000855626 RCV001293035 RCV004739389

NM_000051.4(ATM):c.3014A>G (p.Asn1005Ser)

SNV
Germline

Chr11:108271343

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Familial cancer of breast
Ataxia-telangiectasia syndrome
Condition: not provided
Ataxia-telangiectasia syndrome
Malignant tumor of breast
Familial cancer of breast
ATM-related disorder
Breast and/or ovarian cancer
Hereditary cancer

Criteria Provided
Conflicting Classifications

CA208751

rs_146531614

23 SubmittersRCV000115171 RCV000194529 RCV000515446 RCV000588986 RCV001079613 RCV001354960 RCV002291557 RCV004549545 RCV003492454 RCV004700416

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.3372C>G (p.Tyr1124Ter)

SNV
Germline

Chr11:108279578

Pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided
Familial cancer of breast
Ataxia-telangiectasia syndrome
Familial cancer of breast
Breast and/or ovarian cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA274336

rs_587779833

12 SubmittersRCV000115176 RCV000169463 RCV000211999 RCV000515217 RCV003467025 RCV003492455

NM_000051.4(ATM):c.3449G>C (p.Arg1150Thr)

SNV
Germline

Chr11:108281041

Conflicting classifications of pathogenicity

Condition: not provided
Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
not specified
Familial cancer of breast
ATM-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA286809

rs_555219189

11 SubmittersRCV000115177 RCV000199179 RCV000215488 RCV001818259 RCV003338413 RCV005359063

NM_000051.4(ATM):c.3836G>A (p.Trp1279Ter)

SNV
Germline

Chr11:108284316

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA286819

rs_587779836

6 SubmittersRCV000115181 RCV000212003 RCV001274265 RCV004019606

NM_000051.4(ATM):c.4060C>A (p.Pro1354Thr)

SNV
Germline

Chr11:108287666

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
not specified
Condition: not provided
Malignant tumor of breast
ATM-related disorder
Hereditary cancer
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA206573

rs_145119475

21 SubmittersRCV000115184 RCV000168271 RCV000193232 RCV000656759 RCV001354169 RCV004549549 RCV003492456 RCV004589563

NM_000051.4(ATM):c.4066A>G (p.Asn1356Asp)

SNV
Germline

Chr11:108287672

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
Familial cancer of breast
ATM-related disorder

Criteria Provided
Conflicting Classifications

CA286825

rs_147600485

19 SubmittersRCV000115185 RCV000122846 RCV000212008 RCV000586490 RCV001535806 RCV001358328 RCV003492457 RCV004589564 RCV004739390

NM_000051.4(ATM):c.4148C>T (p.Ser1383Leu)

SNV
Germline

Chr11:108289015

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Ataxia-telangiectasia syndrome
not specified
Malignant tumor of breast
See cases
Familial cancer of breast
ATM-related disorder
Familial cancer of breast
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

CA286831

rs_141087784

26 SubmittersRCV000115187 RCV000212009 RCV000459643 RCV000780883 RCV001354350 RCV002251983 RCV003474711 RCV004549550 RCV005042207

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.4388T>G (p.Phe1463Cys)

SNV
Germline

Chr11:108289753

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Ataxia-telangiectasia syndrome
Condition: not provided
Malignant tumor of breast
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA151463

rs_138327406

26 SubmittersRCV000115193 RCV000120139 RCV000122848 RCV000588436 RCV001356026 RCV004589565

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.4424A>G (p.Tyr1475Cys)

SNV
Germline

Chr11:108289789

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
not specified
Condition: not provided
Familial cancer of breast
Familial cancer of breast
Ataxia-telangiectasia syndrome
Malignant tumor of breast
Breast and/or ovarian cancer
ATM-related disorder

Criteria Provided
Conflicting Classifications

CA286855

rs_34640941

27 SubmittersRCV000115197 RCV000122849 RCV000212017 RCV000590782 RCV001250427 RCV001281009 RCV001355381 RCV001798316 RCV004549553

NM_000051.4(ATM):c.4606A>G (p.Lys1536Glu)

SNV
Germline

Chr11:108292788

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided
not specified
ATM-related disorder
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA286858

rs_587779841

10 SubmittersRCV000115198 RCV000465699 RCV000679122 RCV003114258 RCV004549554 RCV004589566

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.5009C>T (p.Ala1670Val)

SNV
Germline

Chr11:108299717

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA286867

rs_375131360

15 SubmittersRCV000115202 RCV000206394 RCV000561604 RCV001171473 RCV002490773 RCV003315637

NM_000051.4(ATM):c.5071A>C (p.Ser1691Arg)

SNV
Germline

Chr11:108299779

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
not specified
Condition: not provided
Malignant tumor of breast
Breast and/or ovarian cancer
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA157131

rs_1800059

33 SubmittersRCV000115204 RCV000119119 RCV000120143 RCV000679127 RCV001354566 RCV001798318 RCV004589567

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.5228C>T (p.Thr1743Ile)

SNV
Germline

Chr11:108301698

Pathogenic

Condition: not provided
Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast
ATM-related cancer predisposition

Reviewed By Expert Panel

CA286882

rs_587779844

13 SubmittersRCV000115208 RCV000168297 RCV000220146 RCV003460805 RCV005359068

NM_000051.4(ATM):c.5489T>C (p.Met1830Thr)

SNV
Germline

Chr11:108303022

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
ATM-related disorder

Criteria Provided
Conflicting Classifications

CA286894

rs_145812395

15 SubmittersRCV000115213 RCV000167908 RCV000212029 RCV001281031 RCV001804843 RCV003460806 RCV004549558

NM_000051.4(ATM):c.5882A>G (p.Tyr1961Cys)

SNV
Germline

Chr11:108310279

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided
Familial cancer of breast
Ataxia-telangiectasia syndrome
not specified
Breast carcinoma
Familial cancer of breast
Cancer or benign tumor

Criteria Provided
Conflicting Classifications

CA286907

rs_56399311

21 SubmittersRCV000115218 RCV000195828 RCV000589184 RCV000763707 RCV001263508 RCV001799619 RCV003237337 RCV005625290

NM_000051.4(ATM):c.5932G>T (p.Glu1978Ter)

SNV
Germline

Chr11:108312424

Pathogenic

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
Ataxia-telangiectasia syndrome
Breast cancer, susceptibility to
ATM-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA286910

rs_587779852

35 SubmittersRCV000115219 RCV000205725 RCV000212035 RCV000515323 RCV001270929 RCV001310112 RCV001258122 RCV004549559

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.6100C>T (p.Arg2034Ter)

SNV
Germline

Chr11:108316015

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA286916

rs_532480170

20 SubmittersRCV000115222 RCV000122867 RCV000235108 RCV001762221 RCV005862980

NM_000051.4(ATM):c.6101G>A (p.Arg2034Gln)

SNV
Germline

Chr11:108316016

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Ataxia-telangiectasia syndrome
Malignant tumor of breast
Familial cancer of breast
not specified

Criteria Provided
Conflicting Classifications

CA286919

rs_3218670

10 SubmittersRCV000115223 RCV000212038 RCV000457673 RCV001358622 RCV002288590 RCV003320457

NM_000051.4(ATM):c.610G>A (p.Gly204Arg)

SNV
Germline

Chr11:108244066

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
Ataxia-telangiectasia syndrome
Breast and/or ovarian cancer
Familial cancer of breast
ATM-related disorder
Familial colorectal cancer type X

Criteria Provided
Conflicting Classifications

CA286922

rs_147915571

26 SubmittersRCV000115224 RCV000122868 RCV000235097 RCV000764935 RCV001193006 RCV001535620 RCV001798321 RCV003335103 RCV004549561 RCV005364992

NM_000051.4(ATM):c.6160G>T (p.Ala2054Ser)

SNV
Germline

Chr11:108316075

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA286925

rs_587779853

9 SubmittersRCV000115225 RCV000526670 RCV000566375 RCV001193632 RCV003467029

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.6572+1G>A

SNV
Germline

Chr11:108321421

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA286940

rs_587779856

6 SubmittersRCV000115231 RCV000212046 RCV000410003 RCV004019607

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.6974C>T (p.Ala2325Val)

SNV
Germline

Chr11:108326224

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA286950

rs_200940211

15 SubmittersRCV000115236 RCV000122881 RCV000212052 RCV001375520 RCV002477275 RCV003460809

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.6998C>A (p.Thr2333Lys)

SNV
Germline

Chr11:108327667

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Ataxia-telangiectasia syndrome
not specified
Hepatoblastoma
Breast and/or ovarian cancer
ATM-related disorder
Familial colorectal cancer type X
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA286957

rs_150503164

15 SubmittersRCV000115239 RCV000212056 RCV001079437 RCV001201251 RCV001843477 RCV003492467 RCV004549567 RCV005359070 RCV004589573

NM_000051.4(ATM):c.6998C>T (p.Thr2333Ile)

SNV
Germline

Chr11:108327667

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided
not specified
ATM-related disorder
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA286960

rs_150503164

10 SubmittersRCV000115240 RCV000206376 RCV000590099 RCV000855568 RCV004549568 RCV004589574

NM_000051.4(ATM):c.7181C>T (p.Ser2394Leu)

SNV
Germline

Chr11:108329112

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA286966

rs_587779861

11 SubmittersRCV000115242 RCV000494662 RCV000534806 RCV001171474 RCV002483185 RCV003467031

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.7390T>C (p.Cys2464Arg)

SNV
Germline

Chr11:108330296

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
not specified
Condition: not provided
Malignant tumor of breast
Breast and/or ovarian cancer
ATM-related disorder
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA249000

rs_55801750

24 SubmittersRCV000115249 RCV000119204 RCV000202803 RCV000589438 RCV001356727 RCV001798325 RCV004549571 RCV004589576

NM_000051.4(ATM):c.7456C>T (p.Arg2486Ter)

SNV
Germline

Chr11:108330362

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Ataxia-telangiectasia syndrome
Abnormal central motor function
Gastric cancer
Familial cancer of breast
Inherited breast cancer and ovarian cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA286987

rs_587779865

14 SubmittersRCV000115251 RCV000212068 RCV000462583 RCV001814060 RCV003162535 RCV003467032 RCV004782241

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.7630-2A>C

SNV
Germline

Chr11:108331877

Pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Ataxia-telangiectasia syndrome
Familial cancer of breast
Ataxia-telangiectasia syndrome
Familial cancer of breast
Breast and/or ovarian cancer
Colorectal cancer
Tip-toe gait
ATM-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA286993

rs_587779866

28 SubmittersRCV000115253 RCV000212074 RCV000206201 RCV000515371 RCV001253391 RCV001270954 RCV002463639 RCV003319320 RCV004739398

NM_000051.4(ATM):c.7740A>C (p.Arg2580Ser)

SNV
Germline

Chr11:108331989

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided
not specified
Ovarian cancer
ATM-related disorder
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA286994

rs_199915459

16 SubmittersRCV000115254 RCV000205594 RCV000589821 RCV000855570 RCV003153367 RCV004549572 RCV004589577

NM_000051.4(ATM):c.7778A>G (p.Gln2593Arg)

SNV
Germline

Chr11:108332027

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA286997

rs_587779867

14 SubmittersRCV000115255 RCV000197623 RCV000588147 RCV001257470 RCV002228249 RCV004700417

NM_000051.4(ATM):c.7788+8G>T

SNV
Germline

Chr11:108332045

Conflicting classifications of pathogenicity

not specified
Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Malignant tumor of breast
Breast and/or ovarian cancer
Familial cancer of breast
Intellectual disability

Criteria Provided
Conflicting Classifications

CA287000

rs_112775908

34 SubmittersRCV000115256 RCV000119166 RCV000579980 RCV000589845 RCV001357795 RCV001798326 RCV004589578 RCV005625291

NM_000051.4(ATM):c.7928-10T>C

SNV
Germline

Chr11:108333876

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Malignant tumor of breast
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA287004

rs_188404773

15 SubmittersRCV000115258 RCV000588523 RCV000776053 RCV001083708 RCV001357331 RCV004589579

NM_000051.4(ATM):c.8113G>A (p.Val2705Ile)

SNV
Germline

Chr11:108335071

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA287006

rs_587779870

12 SubmittersRCV000115260 RCV000234753 RCV000235110 RCV000779774 RCV003467033

NM_000051.4(ATM):c.8113G>T (p.Val2705Leu)

SNV
Germline

Chr11:108335071

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA287009

rs_587779870

6 SubmittersRCV000115261 RCV000212078 RCV000464258 RCV004566997

NM_000051.4(ATM):c.8156G>A (p.Arg2719His)

SNV
Germline

Chr11:108335849

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided
Familial cancer of breast
Ataxia-telangiectasia syndrome
Familial cancer of breast
Breast and/or ovarian cancer
not specified
ATM-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA287012

rs_55982963

28 SubmittersRCV000115262 RCV000232453 RCV000586113 RCV000764949 RCV001257471 RCV001798327 RCV001818260 RCV005359071

NM_000051.4(ATM):c.8494C>T (p.Arg2832Cys)

SNV
Germline/somatic

Chr11:108345818

Likely pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided
Familial cancer of breast
Abnormal central motor function
Gastric cancer
Familial cancer of breast
Ataxia-telangiectasia syndrome
ATM-related cancer predisposition
Diffuse midline glioma, H3 K27M-mutant

Reviewed By Expert Panel

CA287019

rs_587779872

31 SubmittersRCV000115265 RCV000169354 RCV000212084 RCV001197256 RCV001814061 RCV003162536 RCV005049421 RCV005638427 RCV006253796

NM_000051.4(ATM):c.8786+1G>A

SNV
Germline

Chr11:108353881

Pathogenic

Condition: not provided
Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Ataxia-telangiectasia syndrome
Malignant glioma
Familial cancer of breast
ATM-related cancer predisposition

Reviewed By Expert Panel

CA274150

rs_17174393

19 SubmittersRCV000115269 RCV000169303 RCV000220586 RCV000763226 RCV000761159 RCV003467035 RCV005638428

NM_000051.4(ATM):c.8968G>A (p.Glu2990Lys)

SNV
Germline

Chr11:108365199

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided
Malignant tumor of breast
not specified
Familial cancer of breast
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA287036

rs_1800558

13 SubmittersRCV000115272 RCV000200530 RCV000212095 RCV001358118 RCV002271407 RCV003330438 RCV003467036

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_000465.4(BARD1):c.1028C>T (p.Thr343Ile)

SNV
Germline

Chr2:214780846

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
not specified
BARD1-related disorder

Criteria Provided
Conflicting Classifications

CA331810

rs_201032007

16 SubmittersRCV000115608 RCV000206115 RCV000235113 RCV003320563 RCV003891610

NM_000465.4(BARD1):c.1217G>A (p.Arg406Gln)

SNV
Germline

Chr2:214780657

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Carcinoma of colon
BARD1-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA287510

rs_587780014

9 SubmittersRCV000115609 RCV000222471 RCV000226218 RCV000855729 RCV005600668

NM_000465.4(BARD1):c.1568T>C (p.Val523Ala)

SNV
Germline

Chr2:214767482

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Familial cancer of breast
BARD1-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA331812

rs_587780017

11 SubmittersRCV000115612 RCV000589446 RCV000722111 RCV001079586 RCV005359080

NM_000465.4(BARD1):c.1569-13C>G

SNV
Germline

Chr2:214752568

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast
not specified

Criteria Provided
Conflicting Classifications

CA287516

rs_587780018

8 SubmittersRCV000115613 RCV000580058 RCV000708905 RCV003320564

NM_000465.4(BARD1):c.1677+5G>A

SNV
Germline

Chr2:214752442

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast
not specified
BARD1-related cancer predisposition
Malignant tumor of breast

Criteria Provided
Conflicting Classifications

CA287517

rs_587780019

9 SubmittersRCV000115614 RCV000215087 RCV000635683 RCV002271408 RCV005600669 RCV005237548

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.1694G>A (p.Arg565His)

SNV
Germline

Chr2:214745838

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
not specified
Condition: not provided
Malignant tumor of breast
BARD1-related disorder

Criteria Provided
Conflicting Classifications

CA287520

rs_146946984

18 SubmittersRCV000115617 RCV000197934 RCV000212137 RCV000589818 RCV001355455 RCV003952549

NM_000465.4(BARD1):c.1718T>C (p.Ile573Thr)

SNV
Germline

Chr2:214745814

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
not specified
BARD1-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA287522

rs_587780022

12 SubmittersRCV000115618 RCV000227623 RCV000586551 RCV001420717 RCV005359082

NM_000465.4(BARD1):c.1793C>A (p.Thr598Asn)

SNV
Germline

Chr2:214745739

Conflicting classifications of pathogenicity

Condition: not provided
Familial cancer of breast
Hereditary cancer-predisposing syndrome
not specified
Breast and/or ovarian cancer

Criteria Provided
Conflicting Classifications

CA331816

rs_376256852

13 SubmittersRCV000115619 RCV000206143 RCV000566888 RCV001526924 RCV003492476

NM_000465.4(BARD1):c.1977A>G (p.Arg659=)

SNV
Germline

Chr2:214730435

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
not specified
Condition: not provided
Malignant tumor of breast
Breast and/or ovarian cancer
BARD1-related disorder

Criteria Provided
Conflicting Classifications

CA287528

rs_147215925

28 SubmittersRCV000115623 RCV000200663 RCV000417370 RCV000586474 RCV001357201 RCV003492477 RCV003891611

NM_000465.4(BARD1):c.2002-12T>G

SNV
Germline

Chr2:214729020

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Hereditary cancer

Criteria Provided
Conflicting Classifications

CA287532

rs_587780027

5 SubmittersRCV000115625 RCV000771218 RCV002055274 RCV005229907

NM_000465.4(BARD1):c.2116A>G (p.Lys706Glu)

SNV
Germline

Chr2:214728894

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Malignant tumor of breast
Familial adenomatous polyposis 2
BARD1-related cancer predisposition
not specified

Criteria Provided
Conflicting Classifications

CA331819

rs_149262370

13 SubmittersRCV000115626 RCV000204656 RCV000590177 RCV001355765 RCV003153369 RCV005600671 RCV005055583

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.2282G>A (p.Ser761Asn)

SNV
Germline

Chr2:214728728

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Familial cancer of breast
Hereditary cancer
Condition: not provided
Malignant tumor of breast
Breast and/or ovarian cancer

Criteria Provided
Conflicting Classifications

CA287539

rs_142155101

22 SubmittersRCV000115631 RCV000212144 RCV000197696 RCV000415317 RCV000588281 RCV001357958 RCV003492480

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.33G>T (p.Gln11His)

SNV
Germline

Chr2:214809537

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
not specified
Condition: not provided
Malignant tumor of breast
Breast and/or ovarian cancer

Criteria Provided
Conflicting Classifications

CA287543

rs_143914387

25 SubmittersRCV000115633 RCV000195673 RCV000417369 RCV000587822 RCV001281075 RCV003492481

NM_000465.4(BARD1):c.353A>G (p.Asn118Ser)

SNV
Germline

Chr2:214792308

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Familial cancer of breast
Condition: not provided
Malignant tumor of breast
Clear cell carcinoma of kidney

Criteria Provided
Conflicting Classifications

CA287545

rs_142864491

13 SubmittersRCV000115634 RCV000212113 RCV000468892 RCV000656769 RCV001358028 RCV005887909

NM_000465.4(BARD1):c.3G>A (p.Met1Ile)

SNV
Germline

Chr2:214809567

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA287547

rs_587780031

4 SubmittersRCV000115635 RCV001216890 RCV001356012 RCV002371945

NM_000465.4(BARD1):c.54C>G (p.Asn18Lys)

SNV
Germline

Chr2:214809516

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
not specified
Ovarian cancer
BARD1-related disorder

Criteria Provided
Conflicting Classifications

CA287549

rs_587780032

13 SubmittersRCV000115636 RCV000535960 RCV000766538 RCV001731379 RCV003153370 RCV003935101

NM_000465.4(BARD1):c.668A>G (p.Glu223Gly)

SNV
Germline

Chr2:214781206

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
not specified
Malignant tumor of breast
Breast and/or ovarian cancer
BARD1-related disorder
BARD1-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA287552

rs_145009419

20 SubmittersRCV000115639 RCV000198939 RCV000587223 RCV000855630 RCV001355551 RCV003492483 RCV003421992 RCV005600672

NM_000465.4(BARD1):c.690C>G (p.Asp230Glu)

SNV
Germline

Chr2:214781184

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast
not specified

Criteria Provided
Conflicting Classifications

CA287554

rs_587780034

6 SubmittersRCV000115640 RCV000561313 RCV000813058 RCV004800290

NM_000465.4(BARD1):c.709C>G (p.Gln237Glu)

SNV
Germline

Chr2:214781165

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
not specified
BARD1-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA331823

rs_587780035

10 SubmittersRCV000115641 RCV000205761 RCV000587339 RCV002465514 RCV005359083

NM_000465.4(BARD1):c.716T>A (p.Leu239Gln)

SNV
Germline

Chr2:214781158

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
not specified
Breast and/or ovarian cancer
BARD1-related disorder
Thyroid cancer, nonmedullary, 1

Criteria Provided
Conflicting Classifications

CA287556

rs_200359745

21 SubmittersRCV000115642 RCV000212121 RCV000206495 RCV000779824 RCV003492484 RCV004739401 RCV005887910

NM_000465.4(BARD1):c.776A>G (p.Asp259Gly)

SNV
Germline

Chr2:214781098

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
not specified
BARD1-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA331825

rs_587780036

9 SubmittersRCV000115643 RCV000197946 RCV000212124 RCV000781933 RCV005600673

NM_000465.4(BARD1):c.79G>C (p.Glu27Gln)

SNV
Germline

Chr2:214809491

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA287558

rs_587780037

9 SubmittersRCV000115644 RCV000204805 RCV000585925 RCV001818274

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_000465.4(BARD1):c.976A>G (p.Asn326Asp)

SNV
Germline

Chr2:214780898

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA287562

rs_587780038

8 SubmittersRCV000115646 RCV000213809 RCV000458970

NM_000535.7(PMS2):c.1999G>A (p.Glu667Lys)

SNV
Germline

Chr7:5986766

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
not specified
Familial cancer of breast
Lynch syndrome 4
Lynch syndrome
PMS2-related disorder

Criteria Provided
Conflicting Classifications

CA010622

rs_587780045

15 SubmittersRCV000115669 RCV000468280 RCV000588762 RCV002281936 RCV003322597 RCV003467052 RCV003997289 RCV004742257

NM_000546.6(TP53):c.659A>G (p.Tyr220Cys)

SNV
Germline/somatic

Chr17:7674872

Pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Li-Fraumeni syndrome
Squamous cell carcinoma of the head and neck
Ovarian neoplasm
Li-Fraumeni syndrome 1
Breast carcinoma
B-cell chronic lymphocytic leukemia
12 conditions
Gastric cancer
TP53-related disorder
Adrenocortical carcinoma, hereditary
Adrenal cortex carcinoma
Neoplasm
Pancreatic adenocarcinoma
Colon adenocarcinoma
Sarcoma
Glioma susceptibility 1
Squamous cell lung carcinoma
Malignant tumor of esophagus
Malignant tumor of urinary bladder
Lung cancer
Familial cancer of breast
Embryonal rhabdomyosarcoma
Diffuse midline glioma, H3 K27M-mutant
Adenocarcinoma of the large intestine
Ovarian mucinous adenocarcinoma
Astrocytoma IDH-mutant

Reviewed By Expert Panel

CA000315

rs_121912666

31 SubmittersRCV000115731 RCV000213055 RCV000232050 RCV000433936 RCV000785544 RCV001310212 RCV001579295 RCV001527468 RCV002490776 RCV003162539 RCV003407499 RCV003460829 RCV003997298 RCV004668782 RCV005887917 RCV005887912 RCV005887918 RCV005887913 RCV005887914 RCV005887916 RCV005887915 RCV005887919 RCV005887911 RCV006253802 RCV006253804 RCV006253805 RCV006253806 RCV006253803

NM_004360.5(CDH1):c.1334A>C (p.Glu445Ala)

SNV
Germline

Chr16:68815528

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary diffuse gastric adenocarcinoma
Condition: not provided
Familial cancer of breast
not specified

Criteria Provided
Conflicting Classifications

CA288031

rs_374398608

7 SubmittersRCV000115839 RCV000123235 RCV000212366 RCV003460830 RCV006273523

NM_004360.5(CDH1):c.1565+1G>A

SNV
Germline

Chr16:68815760

Pathogenic

Hereditary cancer-predisposing syndrome
Hereditary diffuse gastric adenocarcinoma
Condition: not provided
Familial cancer of breast
Hereditary diffuse gastric adenocarcinoma
Familial cancer of breast
CDH1-related diffuse gastric and lobular breast cancer syndrome
Familial cancer of breast
Ovarian cancer
Thyroid cancer, nonmedullary, 1

Reviewed By Expert Panel

CA288040

rs_587780113

21 SubmittersRCV000115843 RCV000123238 RCV000212372 RCV001171458 RCV001310107 RCV003328172 RCV005364998 RCV005887922

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_004360.5(CDH1):c.2080G>A (p.Val694Ile)

SNV
Germline

Chr16:68823542

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary diffuse gastric adenocarcinoma
Familial cancer of breast
not specified
Familial cancer of breast
Ovarian cancer

Criteria Provided
Conflicting Classifications

CA288051

rs_587780118

11 SubmittersRCV000115849 RCV000222804 RCV000530518 RCV002288600 RCV002509224 RCV005364999

NM_004360.5(CDH1):c.2515G>A (p.Gly839Ser)

SNV
Germline

Chr16:68833365

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary diffuse gastric adenocarcinoma
Familial cancer of breast
not specified

Criteria Provided
Conflicting Classifications

CA288061

rs_587780121

11 SubmittersRCV000115858 RCV000212391 RCV000231558 RCV004567021 RCV005237552

NM_004360.5(CDH1):c.2644G>A (p.Asp882Asn)

SNV
Germline

Chr16:68833494

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary diffuse gastric adenocarcinoma
not specified
Familial cancer of breast
CDH1-related disorder
Endometrial carcinoma
Ovarian cancer
Blepharocheilodontic syndrome 1
Hereditary diffuse gastric adenocarcinoma
Familial cancer of breast
Ovarian cancer
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA288067

rs_200104963

13 SubmittersRCV000115860 RCV000212394 RCV000232913 RCV002465518 RCV003460831 RCV003398713 RCV005016396 RCV005359094

NM_005359.6(SMAD4):c.424+5G>A

SNV
Germline

Chr18:51048865

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Generalized juvenile polyposis/juvenile polyposis coli
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
Myhre syndrome
Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection
Hereditary cancer-predisposing syndrome
Juvenile polyposis syndrome
SMAD4-related disorder
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA288122

rs_200772603

23 SubmittersRCV000115883 RCV000213004 RCV000204731 RCV000306889 RCV000346296 RCV000656977 RCV000770696 RCV002311002 RCV002228348 RCV004745191 RCV005887925

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.2647C>T (p.Arg883Cys)

SNV
Germline

Chr5:132604928

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Nijmegen breakage syndrome-like disorder
not specified
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA331875

rs_138749920

10 SubmittersRCV000115944 RCV000212919 RCV000515220 RCV002469013 RCV003997299

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.-6G>A

SNV
Germline

Chr22:28734727

Conflicting classifications of pathogenicity

Familial cancer of breast
Condition: not provided
not specified
Hereditary cancer-predisposing syndrome
Malignant tumor of breast
CHEK2-related disorder
CHEK2-related cancer predisposition
Colorectal cancer
Bone osteosarcoma
Familial cancer of breast
Familial prostate cancer

Criteria Provided
Conflicting Classifications

CA288250

rs_376995740

10 SubmittersRCV000197200 RCV000590166 RCV000722128 RCV000776065 RCV001357979 RCV004542827 RCV005406829

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.1420C>T (p.Arg474Cys)

SNV
Germline

Chr22:28694073

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Lung carcinoma
Prostate cancer
Carcinoma of colon
Familial cancer of breast
Condition: not provided
CHEK2-related cancer predisposition
Bone osteosarcoma
Prostate cancer
Familial cancer of breast
not specified
CHEK2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA288280

rs_540635787

21 SubmittersRCV000115999 RCV000206044 RCV000234795 RCV000588723 RCV000764370 RCV002222396 RCV003493445

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.1448A>G (p.His483Arg)

SNV
Germline

Chr22:28694045

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided

Criteria Provided
Conflicting Classifications

CA288284

rs_587780177

8 SubmittersRCV000116002 RCV000199678 RCV000679674

NM_007194.4(CHEK2):c.1470C>A (p.Asp490Glu)

SNV
Germline

Chr22:28689207

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
not specified

Criteria Provided
Conflicting Classifications

CA288286

rs_587780178

9 SubmittersRCV000116003 RCV000212469 RCV000462156 RCV003321507

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>A (p.Arg519Gln)

SNV
Germline

Chr22:28687973

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
not specified

Criteria Provided
Conflicting Classifications

CA288292

rs_587780180

11 SubmittersRCV000116006 RCV000212475 RCV000227687 RCV002265609

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.1604G>A (p.Arg535His)

SNV
Germline

Chr22:28687925

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
not specified
Hereditary nonpolyposis colon cancer

Criteria Provided
Conflicting Classifications

CA288296

rs_544216926

16 SubmittersRCV000116008 RCV000212482 RCV000412260 RCV001818284 RCV005359097

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.320-5T>A

SNV
Germline

Chr22:28725372

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
not specified
CHEK2-related cancer predisposition
Familial cancer of breast
Breast and/or ovarian cancer
Hereditary cancer
CHEK2-related disorder
Acute myeloid leukemia

Criteria Provided
Conflicting Classifications

CA231722

rs_121908700

23 SubmittersRCV000116011 RCV000119289 RCV000195943 RCV000212412 RCV001171460 RCV001798354 RCV003492504 RCV004528807 RCV005887928

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.400G>C (p.Asp134His)

SNV
Germline

Chr22:28725287

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Familial cancer of breast
CHEK2-related cancer predisposition
Prostate cancer
Bone osteosarcoma
Colorectal cancer
Hereditary nonpolyposis colon cancer

Criteria Provided
Conflicting Classifications

CA288303

rs_372874441

12 SubmittersRCV000116013 RCV000212415 RCV000473822 RCV002477285 RCV005365002

NM_007194.4(CHEK2):c.410G>A (p.Arg137Gln)

SNV
Germline

Chr22:28725277

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
not specified
Condition: not provided
Breast and/or ovarian cancer
CHEK2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA288305

rs_368570187

22 SubmittersRCV000116014 RCV000204285 RCV000254657 RCV000588933 RCV001798356 RCV005234999

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.479T>G (p.Ile160Arg)

SNV
Germline

Chr22:28725090

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
CHEK2-related cancer predisposition
Predisposition to cancer
not specified

Criteria Provided
Conflicting Classifications

CA288310

rs_72552323

10 SubmittersRCV000116019 RCV000464571 RCV000766748 RCV001292859 RCV003444201 RCV006268616

NM_007194.4(CHEK2):c.480A>G (p.Ile160Met)

SNV
Germline

Chr22:28725089

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
not specified
Breast and/or ovarian cancer
CHEK2-related cancer predisposition
CHEK2-related disorder

Criteria Provided
Conflicting Classifications

CA288312

rs_575910805

22 SubmittersRCV000116020 RCV000586231 RCV001005035 RCV001549277 RCV001798357 RCV003387765 RCV004529942

NM_007194.4(CHEK2):c.500G>A (p.Gly167Glu)

SNV
Germline

Chr22:28725069

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA288314

rs_144850845

5 SubmittersRCV000116021 RCV000565735 RCV000474336

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.74T>C (p.Val25Ala)

SNV
Germline

Chr22:28734648

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA288324

rs_587780188

7 SubmittersRCV000233411 RCV000571943 RCV001704016 RCV003150946

NM_007194.4(CHEK2):c.751A>T (p.Ile251Phe)

SNV
Germline

Chr22:28711950

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Familial cancer of breast
Condition: not provided
Bone osteosarcoma
Prostate cancer
Colorectal cancer
Familial cancer of breast
CHEK2-related cancer predisposition
CHEK2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA288326

rs_587780189

18 SubmittersRCV000116030 RCV000212436 RCV000206871 RCV000587105 RCV002490783 RCV005359101

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.1347A>G (p.Lys449=)

SNV
Germline

Chr16:23635199

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Pancreatic cancer, susceptibility to, 3
not specified

Criteria Provided
Conflicting Classifications

CA288401

rs_587780205

8 SubmittersRCV000116066 RCV000590184 RCV001087089 RCV001356241 RCV001818286

NM_024675.4(PALB2):c.1564C>T (p.Pro522Ser)

SNV
Germline

Chr16:23634982

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA288407

rs_373876101

10 SubmittersRCV000116069 RCV000205286 RCV000563884 RCV001357507 RCV001192765

NM_024675.4(PALB2):c.1697G>A (p.Arg566His)

SNV
Germline

Chr16:23630457

Conflicting classifications of pathogenicity

Condition: not provided
Familial cancer of breast
Hereditary cancer-predisposing syndrome
not specified
PALB2-related disorder
Fanconi anemia complementation group N
Breast-ovarian cancer, familial, susceptibility to, 5
Pancreatic cancer, susceptibility to, 3
Breast-ovarian cancer, familial, susceptibility to, 5
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA288413

rs_144617793

16 SubmittersRCV000116071 RCV000229982 RCV000564017 RCV001030254 RCV004542828 RCV005016399 RCV005359104 RCV005623303

NM_024675.4(PALB2):c.1733G>T (p.Ser578Ile)

SNV
Germline

Chr16:23630421

Conflicting classifications of pathogenicity

Condition: not provided
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group N
Familial cancer of breast
Pancreatic cancer, susceptibility to, 3

Criteria Provided
Conflicting Classifications

CA288419

rs_587780207

6 SubmittersRCV000116074 RCV000474485 RCV000567502 RCV002483190

NM_024675.4(PALB2):c.194C>T (p.Pro65Leu)

SNV
Germline

Chr16:23637867

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
not specified
Condition: not provided
Pancreatic cancer, susceptibility to, 3

Criteria Provided
Conflicting Classifications

CA161321

rs_62625272

21 SubmittersRCV000116075 RCV000168167 RCV000121745 RCV000585283 RCV001030125

NM_024675.4(PALB2):c.1987C>T (p.Arg663Cys)

SNV
Germline

Chr16:23630167

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
not specified
Familial pancreatic carcinoma

Criteria Provided
Conflicting Classifications

CA288422

rs_62625277

12 SubmittersRCV000116076 RCV000212804 RCV000410272 RCV002509225 RCV005365003

NM_024675.4(PALB2):c.2078A>G (p.His693Arg)

SNV
Germline

Chr16:23630076

Conflicting classifications of pathogenicity

Condition: not provided
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA288425

rs_587780208

4 SubmittersRCV000116077 RCV000467228 RCV000576106

NM_024675.4(PALB2):c.2230G>A (p.Glu744Lys)

SNV
Germline

Chr16:23629924

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast
not specified

Criteria Provided
Conflicting Classifications

CA288438

rs_62625278

8 SubmittersRCV000116082 RCV000234885 RCV000635763 RCV002265611

NM_024675.4(PALB2):c.2379C>T (p.Gly793=)

SNV
Germline

Chr16:23629775

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Fanconi anemia complementation group N
not specified
Malignant tumor of breast
PALB2-related disorder

Criteria Provided
Conflicting Classifications

CA288444

rs_377626805

17 SubmittersRCV000116084 RCV000212811 RCV000200135 RCV000292657 RCV000780574 RCV001354155 RCV004542829

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.2846G>A (p.Cys949Tyr)

SNV
Germline

Chr16:23623119

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA161352

rs_587778588

8 SubmittersRCV000121761 RCV000656938 RCV000635686 RCV001804846 RCV005016400

NM_024675.4(PALB2):c.2897T>C (p.Ile966Thr)

SNV
Germline

Chr16:23623068

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Triple-negative breast cancer
Pancreatic cancer, susceptibility to, 3
Fanconi anemia complementation group N
Familial cancer of breast
not specified
Breast-ovarian cancer, familial, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA210470

rs_587780214

19 SubmittersRCV000116094 RCV000204848 RCV000212819 RCV000202384 RCV000764045 RCV002267857 RCV004760383

NM_024675.4(PALB2):c.3132A>C (p.Gln1044His)

SNV
Germline

Chr16:23614073

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA288460

rs_587780216

3 SubmittersRCV000116098 RCV000454267 RCV000635880

NM_024675.4(PALB2):c.353T>C (p.Ile118Thr)

SNV
Germline

Chr16:23636193

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA288485

rs_370404126

11 SubmittersRCV000116107 RCV000211074 RCV000212774 RCV002222397

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_024675.4(PALB2):c.551G>C (p.Ser184Thr)

SNV
Germline

Chr16:23635995

Conflicting classifications of pathogenicity

Condition: not provided
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group N
Familial cancer of breast
Pancreatic cancer, susceptibility to, 3

Criteria Provided
Conflicting Classifications

CA288489

rs_587780220

5 SubmittersRCV000116109 RCV000559113 RCV001024216 RCV002498499

NM_024675.4(PALB2):c.571C>G (p.Pro191Ala)

SNV
Germline

Chr16:23635975

Conflicting classifications of pathogenicity

Condition: not provided
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA288492

rs_587780221

5 SubmittersRCV000116110 RCV000211086 RCV000774642

NM_024675.4(PALB2):c.856C>T (p.Pro286Ser)

SNV
Germline

Chr16:23635690

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA288495

rs_45585833

9 SubmittersRCV000410687 RCV000567956 RCV000766543 RCV001174832 RCV005394395

NM_024675.4(PALB2):c.928A>G (p.Ser310Gly)

SNV
Germline

Chr16:23635618

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
not specified
Malignant tumor of breast
Breast and/or ovarian cancer
PALB2-related disorder

Criteria Provided
Conflicting Classifications

CA288501

rs_45561331

12 SubmittersRCV000116115 RCV000200242 RCV000212782 RCV001290583 RCV001354315 RCV003149811 RCV004528810

NM_024675.4(PALB2):c.949A>C (p.Thr317Pro)

SNV
Germline

Chr16:23635597

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Fanconi anemia complementation group N
Familial cancer of breast
Pancreatic cancer, susceptibility to, 3

Criteria Provided
Conflicting Classifications

CA288504

rs_587780223

8 SubmittersRCV000116116 RCV000212783 RCV000472765 RCV002483191

NM_032043.3(BRIP1):c.1246C>T (p.Arg416Trp)

SNV
Germline

Chr17:61799194

Conflicting classifications of pathogenicity

Condition: not provided
Fanconi anemia complementation group J
Familial cancer of breast
Hereditary cancer-predisposing syndrome
not specified
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA288508

rs_587780225

6 SubmittersRCV000116119 RCV000558154 RCV000571154 RCV000780058 RCV003137632

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.1357G>A (p.Ala453Thr)

SNV
Germline

Chr17:61793713

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group J
Familial cancer of breast
not specified
Familial cancer of breast
Familial ovarian cancer

Criteria Provided
Conflicting Classifications

CA288514

rs_587780227

10 SubmittersRCV000116122 RCV000221894 RCV000524937 RCV002465521 RCV004567028 RCV005359107

NM_032043.3(BRIP1):c.1372G>T (p.Glu458Ter)

SNV
Germline

Chr17:61793698

Pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Fanconi anemia complementation group J
Familial cancer of breast
Familial cancer of breast
Fanconi anemia complementation group J
Familial ovarian cancer
Fanconi anemia complementation group J
Ovarian cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA288517

rs_587780228

15 SubmittersRCV000116123 RCV000212309 RCV000473135 RCV000781186 RCV001781450 RCV005359108 RCV005430126

NM_032043.3(BRIP1):c.1735C>T (p.Arg579Cys)

SNV
Germline

Chr17:61780899

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group J
Familial cancer of breast
Condition: not provided
Fanconi anemia complementation group J
not specified
Familial cancer of breast
BRIP1-related disorder
Ovarian cancer

Criteria Provided
Conflicting Classifications

CA288532

rs_28997571

15 SubmittersRCV000116130 RCV000196018 RCV000212315 RCV000412043 RCV001192970 RCV003315649 RCV004528811 RCV005430129

NM_032043.3(BRIP1):c.2233G>A (p.Ala745Thr)

SNV
Germline

Chr17:61744456

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Fanconi anemia complementation group J
Familial cancer of breast
Condition: not provided
Familial cancer of breast
BRIP1-related disorder
Fanconi anemia complementation group J
Ovarian cancer

Criteria Provided
Conflicting Classifications

CA208855

rs_587780235

20 SubmittersRCV000116137 RCV000194594 RCV000477497 RCV000586157 RCV001762241 RCV004732686 RCV005430132

NM_032043.3(BRIP1):c.2706A>G (p.Ile902Met)

SNV
Germline

Chr17:61686035

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Fanconi anemia complementation group J
Familial cancer of breast
Fanconi anemia complementation group J
Condition: not provided
Familial cancer of breast
Ovarian cancer

Criteria Provided
Conflicting Classifications

CA288567

rs_587780244

11 SubmittersRCV000116148 RCV000212329 RCV000229209 RCV000410789 RCV000656814 RCV003315654 RCV005430137

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.3104G>A (p.Arg1035His)

SNV
Germline

Chr17:61683942

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group J
Familial cancer of breast
Condition: not provided
not specified
Familial cancer of breast
Fanconi anemia complementation group J
Ovarian cancer

Criteria Provided
Conflicting Classifications

CA288579

rs_367816363

9 SubmittersRCV000116152 RCV000206801 RCV000212333 RCV000781175 RCV003315656 RCV005430139

NM_032043.3(BRIP1):c.316C>T (p.Arg106Cys)

SNV
Germline

Chr17:61857121

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Fanconi anemia complementation group J
Familial cancer of breast
Ovarian neoplasm
Fanconi anemia complementation group J
not specified
Familial cancer of breast
BRIP1-related disorder
Ovarian cancer
Familial ovarian cancer

Criteria Provided
Conflicting Classifications

CA288582

rs_587780247

18 SubmittersRCV000116153 RCV000212298 RCV000205068 RCV000409171 RCV000411175 RCV000780051 RCV000990040 RCV004529952 RCV005430140 RCV005359112

NM_032043.3(BRIP1):c.3236T>C (p.Ile1079Thr)

SNV
Germline

Chr17:61683810

Conflicting classifications of pathogenicity

Condition: not provided
Fanconi anemia complementation group J
Familial cancer of breast
Hereditary cancer-predisposing syndrome
not specified
Familial cancer of breast
BRIP1-related disorder
Fanconi anemia complementation group J
Ovarian cancer
Inherited ovarian cancer (without breast cancer)

Criteria Provided
Conflicting Classifications

CA288585

rs_150813402

10 SubmittersRCV000116154 RCV000204707 RCV000218787 RCV000780057 RCV003315657 RCV004732687 RCV005430141 RCV005237555

NM_032043.3(BRIP1):c.3331G>C (p.Glu1111Gln)

SNV
Germline

Chr17:61683715

Conflicting classifications of pathogenicity

Condition: not provided
Familial cancer of breast
Fanconi anemia complementation group J
Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group J
not specified
Malignant tumor of breast
Familial cancer of breast
Ovarian cancer

Criteria Provided
Conflicting Classifications

CA288588

rs_587780248

13 SubmittersRCV000116155 RCV000204181 RCV000214821 RCV000409119 RCV001194197 RCV001354313 RCV003315658 RCV005430142

NM_032043.3(BRIP1):c.3378A>C (p.Glu1126Asp)

SNV
Germline

Chr17:61683668

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Fanconi anemia complementation group J
Condition: not provided
Familial cancer of breast
Fanconi anemia complementation group J
Familial cancer of breast
Malignant tumor of breast
BRIP1-related disorder
Ovarian cancer

Criteria Provided
Conflicting Classifications

CA288591

rs_145855459

14 SubmittersRCV000116156 RCV000212334 RCV000410562 RCV000587193 RCV001080937 RCV000989979 RCV001354736 RCV004529953 RCV005430143

NM_032043.3(BRIP1):c.3464G>A (p.Gly1155Glu)

SNV
Germline

Chr17:61683582

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group J
Familial cancer of breast
Condition: not provided
Fanconi anemia complementation group J
not specified
Familial cancer of breast
Fanconi anemia complementation group J
Ovarian cancer
Familial ovarian cancer

Criteria Provided
Conflicting Classifications

CA288597

rs_45603843

14 SubmittersRCV000116158 RCV000200049 RCV000662347 RCV001535683 RCV003150947 RCV003315659 RCV005430144 RCV005600683

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_032043.3(BRIP1):c.790C>T (p.Arg264Trp)

SNV
Germline

Chr17:61808595

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA157728

rs_28997569

24 SubmittersRCV000116164 RCV000120409 RCV000411226 RCV000515771 RCV000679792 RCV001082519 RCV001269494 RCV001798362 RCV004528813 RCV005430148

NM_032043.3(BRIP1):c.890A>G (p.Lys297Arg)

SNV
Germline

Chr17:61808495

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA151532

rs_28997570

26 SubmittersRCV000116167 RCV000120408 RCV000412293 RCV000590718 RCV000990022 RCV001084039 RCV001354244 RCV001798363 RCV004732688 RCV005430150

NM_032043.3(BRIP1):c.993G>A (p.Met331Ile)

SNV
Germline

Chr17:61801400

Conflicting classifications of pathogenicity

Condition: not provided
Fanconi anemia complementation group J
Familial cancer of breast
Hereditary cancer-predisposing syndrome
not specified

Criteria Provided
Conflicting Classifications

CA288615

rs_587780252

7 SubmittersRCV000116168 RCV000636062 RCV000771331 RCV002267858

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_001379610.1(SPINK1):c.194+2T>C

SNV
Germline

Chr5:147828020

Pathogenic/Likely pathogenic

Hereditary pancreatitis
Chronic pancreatitis
Tropical pancreatitis
Hereditary pancreatitis
Diabetes mellitus
Condition: not provided
SPINK1-related disorder
Tropical pancreatitis
Colon adenocarcinoma
Familial cancer of breast
Hepatocellular carcinoma

Criteria Provided
Multiple Submitters
No Conflicts

CA345639

rs_148954387

18 SubmittersRCV000119031 RCV000626838 RCV000763134 RCV001249189 RCV001529765 RCV003398721 RCV005359120 RCV005889448 RCV005889447 RCV005889449

NM_004360.5(CDH1):c.715G>A (p.Gly239Arg)

SNV
Germline

Chr16:68810224

Pathogenic

Hereditary diffuse gastric adenocarcinoma
Hereditary cancer-predisposing syndrome
Condition: not provided
6 conditions
Familial cancer of breast
CDH1-related diffuse gastric and lobular breast cancer syndrome
CDH1-related disorder

Reviewed By Expert Panel

CA298980

rs_587780537

14 SubmittersRCV000119150 RCV000160387 RCV000507875 RCV002483202 RCV003460841 RCV003328182 RCV004724812

NM_024675.4(PALB2):c.1054G>C (p.Glu352Gln)

SNV
Germline

Chr16:23635492

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
Pancreatic cancer, susceptibility to, 3

Criteria Provided
Conflicting Classifications

CA167241

rs_201035780

10 SubmittersRCV000119209 RCV000130853 RCV000858055 RCV001356550

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_007194.4(CHEK2):c.*7T>C

SNV
Germline

Chr22:28687890

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA231723

rs_121908710

12 SubmittersRCV000119290 RCV000160461 RCV000206507 RCV000584174 RCV001355148

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.2449G>C (p.Asp817His)

SNV
Germline

Chr11:108259058

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided
Familial cancer of breast
Endometrial carcinoma
ATM-related disorder

Criteria Provided
Conflicting Classifications

CA157079

rs_587778067

15 SubmittersRCV000120124 RCV000159695 RCV000168026 RCV000656758 RCV001250428 RCV001356154 RCV004551177

NM_000051.4(ATM):c.3630G>A (p.Met1210Ile)

SNV
Germline

Chr11:108282763

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided
Familial cancer of breast
Familial colorectal cancer type X

Criteria Provided
Conflicting Classifications

CA157107

rs_587778073

15 SubmittersRCV000120134 RCV000131218 RCV000476722 RCV000657063 RCV004567038 RCV005359133

NM_000051.4(ATM):c.4658A>C (p.Glu1553Ala)

SNV
Germline

Chr11:108293359

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA157122

rs_587778075

12 SubmittersRCV000120140 RCV000166074 RCV000200014 RCV000656761 RCV003467069

NM_000051.4(ATM):c.4779A>G (p.Glu1593=)

SNV
Germline

Chr11:108294929

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA157125

rs_587778076

8 SubmittersRCV000120141 RCV000164622 RCV000841327 RCV001085126 RCV004589587

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.275A>C (p.Lys92Thr)

SNV
Germline

Chr11:108229267

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA157141

rs_200151849

12 SubmittersRCV000120147 RCV000165208 RCV000205193 RCV000656755 RCV000764932 RCV003460845

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.400G>A (p.Gly134Ser)

SNV
Germline

Chr11:108235738

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA157168

rs_2234998

9 SubmittersRCV000120157 RCV000476735 RCV000571088 RCV000764934 RCV003467070 RCV006259021

NM_000051.4(ATM):c.7757A>G (p.Asn2586Ser)

SNV
Germline

Chr11:108332006

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA157171

rs_587778079

13 SubmittersRCV000120158 RCV000465515 RCV000561937 RCV000587034 RCV005359134

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.8545C>T (p.Arg2849Ter)

SNV
Germline

Chr11:108345869

Pathogenic/Likely pathogenic

not specified
Ataxia-telangiectasia syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Breast cancer, susceptibility to
Tip-toe gait
Familial cancer of breast
Familial cancer of breast
Ataxia-telangiectasia syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA157183

rs_587778080

16 SubmittersRCV000120162 RCV000407552 RCV000478987 RCV000566641 RCV001258124 RCV001352893 RCV003460846 RCV005042223

NM_000051.4(ATM):c.8495G>A (p.Arg2832His)

SNV
Germline

Chr11:108345819

Conflicting classifications of pathogenicity

not specified
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
Ovarian cancer

Criteria Provided
Conflicting Classifications

CA157186

rs_529296539

20 SubmittersRCV000120163 RCV000159755 RCV000462707 RCV000656764 RCV000764951 RCV001798380 RCV003153383 RCV003153384

NM_000051.4(ATM):c.649A>G (p.Ile217Val)

SNV
Germline

Chr11:108244105

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided
Familial cancer of breast
ATM-related disorder
Hereditary cancer

Criteria Provided
Conflicting Classifications

CA157189

rs_547045780

18 SubmittersRCV000120164 RCV000217843 RCV000472458 RCV000657028 RCV003467071 RCV004551181 RCV004700427

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_000051.4(ATM):c.1021G>A (p.Val341Ile)

SNV
Germline

Chr11:108247083

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided
Familial cancer of breast
Breast and/or ovarian cancer
ATM-related disorder

Criteria Provided
Conflicting Classifications

CA157207

rs_200601781

13 SubmittersRCV000120170 RCV000167222 RCV000234064 RCV000657017 RCV002288608 RCV003492519 RCV004739412

NM_000057.4(BLM):c.2263A>G (p.Lys755Glu)

SNV
Germline

Chr15:90766979

Conflicting classifications of pathogenicity

not specified
Bloom syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
BLM-related disorder
Hereditary cancer
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA157379

rs_142551229

14 SubmittersRCV000120225 RCV000469034 RCV000566842 RCV000731068 RCV003905143 RCV003492521 RCV005889463

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.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.1742G>A (p.Arg581Gln)

SNV
Germline

Chr17:61780892

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group J
Familial cancer of breast
Condition: not provided
Breast and/or ovarian cancer
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA157682

rs_587778133

11 SubmittersRCV000120392 RCV000221625 RCV000527065 RCV001569960 RCV001798381 RCV003328525

NM_032043.3(BRIP1):c.2220G>T (p.Gln740His)

SNV
Germline

Chr17:61744469

Conflicting classifications of pathogenicity

not specified
Fanconi anemia complementation group J
Familial cancer of breast
Hereditary cancer-predisposing syndrome
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 cancer
Ovarian cancer

Criteria Provided
Conflicting Classifications

CA157692

rs_45589637

28 SubmittersRCV000120396 RCV000123354 RCV000131414 RCV000409608 RCV000488342 RCV000778128 RCV000989999 RCV001358098 RCV001798382 RCV003492522 RCV005430154

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.2804T>G (p.Val935Gly)

SNV
Germline

Chr17:61685937

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group J
Familial cancer of breast
Condition: not provided
Fanconi anemia complementation group J
Breast and/or ovarian cancer
Familial cancer of breast
Inherited ovarian cancer (without breast cancer)
Familial ovarian cancer
Ovarian cancer
Fanconi anemia complementation group J

Criteria Provided
Conflicting Classifications

CA157707

rs_4988356

15 SubmittersRCV000120401 RCV000213879 RCV000468023 RCV000656815 RCV003144130 RCV003149827 RCV003315737 RCV004584195 RCV005359136 RCV005430158

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_032043.3(BRIP1):c.517C>T (p.Arg173Cys)

SNV
Germline

Chr17:61847211

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group J
Condition: not provided
Familial cancer of breast
Fanconi anemia complementation group J
Familial cancer of breast
Malignant tumor of breast
Breast and/or ovarian cancer
Ovarian cancer

Criteria Provided
Conflicting Classifications

CA157719

rs_4988345

27 SubmittersRCV000120405 RCV000129172 RCV000410168 RCV000512967 RCV000990031 RCV001082598 RCV001355393 RCV001798383 RCV005430161

NM_032043.3(BRIP1):c.964C>T (p.Gln322Ter)

SNV
Germline

Chr17:61801429

Pathogenic

not specified
Fanconi anemia complementation group J
Familial cancer of breast
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA157732

rs_587778139

3 SubmittersRCV000120411 RCV001854601 RCV003335108

NM_004360.5(CDH1):c.2074G>A (p.Ala692Thr)

SNV
Germline

Chr16:68823536

Conflicting classifications of pathogenicity

not specified
Hereditary diffuse gastric adenocarcinoma
Hereditary cancer-predisposing syndrome
Condition: not provided
Ovarian cancer
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA157957

rs_376854556

9 SubmittersRCV000120502 RCV000199731 RCV000574554 RCV000656823 RCV005359137

NM_004360.5(CDH1):c.2246G>A (p.Arg749Gln)

SNV
Germline

Chr16:68828255

Conflicting classifications of pathogenicity

not specified
Hereditary diffuse gastric adenocarcinoma
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
CDH1-related disorder
Ovarian cancer

Criteria Provided
Conflicting Classifications

CA157960

rs_530717933

13 SubmittersRCV000120503 RCV000123244 RCV000164201 RCV000657030 RCV004567044 RCV004739413 RCV005359138

NM_004360.5(CDH1):c.322A>G (p.Arg108Gly)

SNV
Germline

Chr16:68801828

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Hereditary diffuse gastric adenocarcinoma
Malignant tumor of breast
Blepharocheilodontic syndrome 1
Endometrial carcinoma
Ovarian cancer
Familial cancer of breast
Hereditary diffuse gastric adenocarcinoma

Criteria Provided
Conflicting Classifications

CA157974

rs_587778172

6 SubmittersRCV000120509 RCV000580672 RCV000692854 RCV001354907 RCV005016409

NM_007194.4(CHEK2):c.14C>T (p.Ser5Leu)

SNV
Germline

Chr22:28734708

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA158091

rs_201084748

11 SubmittersRCV000120550 RCV000129718 RCV000196102 RCV000656829 RCV001355777

NM_007194.4(CHEK2):c.58C>T (p.Gln20Ter)

SNV
Germline

Chr22:28734664

Pathogenic/Likely pathogenic

not specified
Condition: not provided
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Familial ovarian cancer
Breast carcinoma
CHEK2-related cancer predisposition
Inherited breast cancer and ovarian cancer
CHEK2-related cancer predisposition
Familial cancer of breast
Familial prostate cancer
Bone osteosarcoma

Criteria Provided
Multiple Submitters
No Conflicts

CA158093

rs_536907995

22 SubmittersRCV000120552 RCV000255024 RCV000458969 RCV000579628 RCV001356492 RCV001640105 RCV003992188 RCV004584196 RCV004796025

NM_007194.4(CHEK2):c.157T>A (p.Ser53Thr)

SNV
Germline

Chr22:28734565

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Familial cancer of breast
CHEK2-related cancer predisposition
Prostate cancer
Familial cancer of breast
Bone osteosarcoma
Condition: not provided
Li-Fraumeni syndrome
CHEK2-related cancer predisposition
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA158095

rs_371657037

15 SubmittersRCV000120553 RCV000132037 RCV000231176 RCV000765627 RCV000766741 RCV005359141 RCV005414457 RCV005604779

NM_007194.4(CHEK2):c.953G>A (p.Arg318His)

SNV
Germline

Chr22:28699893

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Breast and/or ovarian cancer
CHEK2-related cancer predisposition
Familial cancer of breast
Bone osteosarcoma
Prostate cancer
Colorectal cancer
CHEK2-related disorder
CHEK2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA158099

rs_143611747

18 SubmittersRCV000120557 RCV000131968 RCV000460267 RCV000656832 RCV003149829 RCV002498557 RCV004529998 RCV005359143

NM_000400.4(ERCC2):c.2150C>G (p.Ala717Gly)

SNV
Germline

Chr19:45352249

Pathogenic/Likely pathogenic

not specified
Condition: not provided
Mixed Phenotype Acute Leukemia, T/Myeloid, Not Otherwise Specified
ERCC2-related disorder
Xeroderma pigmentosum, group D
Trichothiodystrophy 1, photosensitive
Inborn genetic diseases
Xeroderma pigmentosum
Xeroderma pigmentosum, group D
Trichothiodystrophy 1, photosensitive
Cerebrooculofacioskeletal syndrome 2
Cervical cancer
Familial cancer of breast
Colon adenocarcinoma
Ovarian serous cystadenocarcinoma
Melanoma

Criteria Provided
Multiple Submitters
No Conflicts

CA158773

rs_144564120

16 SubmittersRCV000120774 RCV000255243 RCV000761018 RCV000778547 RCV000990227 RCV001329855 RCV002515854 RCV003114266 RCV005025191 RCV005889474 RCV005889472 RCV005889473 RCV005889475 RCV005889476

NM_017617.5(NOTCH1):c.4014G>A (p.Ala1338=)

SNV
Germline

Chr9:136506527

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Adams-Oliver syndrome 5
Familial thoracic aortic aneurysm and aortic dissection
Familial cancer of breast
Ovarian cancer

Criteria Provided
Conflicting Classifications

CA161189

rs_377217445

9 SubmittersRCV000121681 RCV000727323 RCV001087168 RCV002313938 RCV005889570 RCV005889571

NM_024675.4(PALB2):c.2456A>G (p.Lys819Arg)

SNV
Germline

Chr16:23629698

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided

Criteria Provided
Conflicting Classifications

CA161343

rs_587778585

10 SubmittersRCV000121755 RCV000129773 RCV000410682 RCV000657026

NM_024675.4(PALB2):c.2258G>A (p.Arg753Gln)

SNV
Germline

Chr16:23629896

Conflicting classifications of pathogenicity

not specified
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA161346

rs_587778586

14 SubmittersRCV000121757 RCV000195647 RCV000561765 RCV000588075

NM_000553.6(WRN):c.95A>G (p.Lys32Arg)

SNV
Germline

Chr8:31058542

Conflicting classifications of pathogenicity

not specified
Werner syndrome
Condition: not provided
Colon adenocarcinoma
Colorectal cancer
Gastric cancer
Ovarian serous cystadenocarcinoma
Chronic lymphocytic leukemia/small lymphocytic lymphoma
Cervical cancer
Clear cell carcinoma of kidney
Malignant tumor of esophagus
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA162716

rs_34477820

12 SubmittersRCV000122279 RCV000344080 RCV000857870 RCV005890468 RCV005890472 RCV005890473 RCV005890474 RCV005890475 RCV005890470 RCV005890471 RCV005890469 RCV005890467

NM_000051.4(ATM):c.1020C>A (p.Ala340=)

SNV
Germline

Chr11:108247082

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Familial cancer of breast
ATM-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA189304

rs_546927781

12 SubmittersRCV000122815 RCV000163834 RCV000437511 RCV001704040 RCV004589592 RCV005359151

NM_000051.4(ATM):c.1272T>C (p.Pro424=)

SNV
Germline

Chr11:108250737

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

Criteria Provided
Conflicting Classifications

CA297982

rs_35578748

24 SubmittersRCV000122817 RCV000159603 RCV000211959 RCV000588662 RCV001355372 RCV001798388 RCV004589593

NM_000051.4(ATM):c.1960C>A (p.Gln654Lys)

SNV
Germline

Chr11:108253875

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA192475

rs_528165789

15 SubmittersRCV000122828 RCV000165083 RCV000254742 RCV001354480 RCV003320097 RCV003467083 RCV003492531 RCV005623305

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.2281A>T (p.Thr761Ser)

SNV
Germline

Chr11:108257511

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Familial cancer of breast
ATM-related disorder

Criteria Provided
Conflicting Classifications

CA294031

rs_2235011

12 SubmittersRCV000122833 RCV000129351 RCV000586568 RCV002223130 RCV004589597 RCV004551196

NM_000051.4(ATM):c.2805G>C (p.Thr935=)

SNV
Germline

Chr11:108268576

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

Criteria Provided
Conflicting Classifications

CA289548

rs_55934812

23 SubmittersRCV000122836 RCV000123732 RCV000211989 RCV000586912 RCV001357062 RCV003149832 RCV003315805

NM_000051.4(ATM):c.3150T>C (p.Leu1050=)

SNV
Germline

Chr11:108272604

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
not specified
Malignant tumor of breast
Condition: not provided
Breast and/or ovarian cancer
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA186610

rs_3092859

16 SubmittersRCV000122839 RCV000162639 RCV000679110 RCV001358528 RCV001640111 RCV001798391 RCV003315806

NM_000051.4(ATM):c.3300G>A (p.Thr1100=)

SNV
Germline

Chr11:108279506

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
not specified
Malignant tumor of breast
Condition: not provided
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA186446

rs_587780621

10 SubmittersRCV000122841 RCV000162548 RCV000779771 RCV001356792 RCV001657770 RCV004589599

NM_000051.4(ATM):c.3342G>A (p.Lys1114=)

SNV
Germline

Chr11:108279548

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Ataxia-telangiectasia syndrome
Malignant tumor of breast
Breast and/or ovarian cancer
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA289556

rs_138393322

20 SubmittersRCV000123738 RCV000211997 RCV000586815 RCV000988672 RCV001356781 RCV001798392 RCV003315807

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.4871A>G (p.His1624Arg)

SNV
Germline

Chr11:108295021

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA294028

rs_56354559

12 SubmittersRCV000122854 RCV000129349 RCV000587947 RCV002223131 RCV004589603 RCV004551198 RCV005604780

NM_000051.4(ATM):c.5639C>T (p.Thr1880Met)

SNV
Germline

Chr11:108304817

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA294391

rs_587780628

7 SubmittersRCV000122860 RCV000131551 RCV000212030 RCV004567060

NM_000051.4(ATM):c.591A>T (p.Gly197=)

SNV
Germline

Chr11:108244047

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
not specified
Malignant tumor of breast
Condition: not provided
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA192923

rs_587780630

10 SubmittersRCV000122862 RCV000165264 RCV000254428 RCV001356581 RCV001682838 RCV003315808

NM_000051.4(ATM):c.609C>T (p.Asp203=)

SNV
Germline

Chr11:108244065

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Breast and/or ovarian cancer
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA289529

rs_144709948

22 SubmittersRCV000122866 RCV000123719 RCV000211950 RCV000679133 RCV001798396 RCV003315809

NM_000051.4(ATM):c.6293T>C (p.Leu2098Pro)

SNV
Germline

Chr11:108317467

Conflicting classifications of pathogenicity

Ataxia-telangiectasia 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

CA192478

rs_587780631

11 SubmittersRCV000122870 RCV000165084 RCV000235401 RCV003320098 RCV003467084 RCV005623306

NM_000051.4(ATM):c.6315G>C (p.Arg2105Ser)

SNV
Germline

Chr11:108317489

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Malignant tumor of breast
Familial cancer of breast
ATM-related disorder

Criteria Provided
Conflicting Classifications

CA167882

rs_587780632

15 SubmittersRCV000122871 RCV000131258 RCV000589612 RCV001293417 RCV001356310 RCV003467085 RCV004551200

NM_000051.4(ATM):c.6343G>A (p.Val2115Ile)

SNV
Germline

Chr11:108317517

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Breast and/or ovarian cancer
Familial cancer of breast
Familial cancer of breast
Ataxia-telangiectasia syndrome
Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA168504

rs_587780634

20 SubmittersRCV000122874 RCV000131631 RCV000237090 RCV001269134 RCV001798397 RCV002288612 RCV002483232 RCV003483488

NM_000051.4(ATM):c.6572+4T>C

SNV
Germline

Chr11:108321424

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA289576

rs_587780636

12 SubmittersRCV000122876 RCV000123756 RCV000417368 RCV000679137 RCV004589606

NM_000051.4(ATM):c.6795C>T (p.Phe2265=)

SNV
Germline

Chr11:108325532

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

Criteria Provided
Conflicting Classifications

CA289516

rs_3218699

20 SubmittersRCV000122878 RCV000123710 RCV000212049 RCV000679140 RCV001356930 RCV003149833 RCV004589608

NM_000051.4(ATM):c.6807G>A (p.Gln2269=)

SNV
Germline

Chr11:108325544

Pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Breast and/or ovarian cancer
Familial cancer of breast
ATM-related cancer predisposition

Reviewed By Expert Panel

CA332354

rs_587780638

11 SubmittersRCV000122879 RCV000213885 RCV001288455 RCV001798398 RCV003985275 RCV005359154

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.7788G>A (p.Glu2596=)

SNV
Germline

Chr11:108332037

Pathogenic/Likely pathogenic

Ataxia-telangiectasia syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Malignant tumor of breast
Familial cancer of breast
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA298062

rs_587780639

16 SubmittersRCV000122884 RCV000159654 RCV000217179 RCV001255554 RCV002505072 RCV003155919

NM_000051.4(ATM):c.8266A>T (p.Lys2756Ter)

SNV
Germline

Chr11:108335959

Pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial ovarian cancer
Familial cancer of breast
Familial cancer of breast
Ataxia-telangiectasia syndrome
Breast and/or ovarian cancer
ATM-related disorder
ATM-related cancer predisposition
Inherited breast cancer and ovarian cancer

Reviewed By Expert Panel

CA293899

rs_371638537

24 SubmittersRCV000122886 RCV000128904 RCV000212082 RCV001356913 RCV002272133 RCV002483233 RCV003492532 RCV004739421 RCV005001002 RCV006461503

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.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.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_004360.5(CDH1):c.2287G>T (p.Glu763Ter)

SNV
Germline

Chr16:68828296

Pathogenic

Hereditary diffuse gastric adenocarcinoma
Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast
CDH1-related diffuse gastric and lobular breast cancer syndrome

Reviewed By Expert Panel

CA332835

rs_587780787

9 SubmittersRCV000123245 RCV000223099 RCV000568475 RCV003474740 RCV003328195

NM_024675.4(PALB2):c.12T>C (p.Pro4=)

SNV
Germline

Chr16:23641146

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
not specified
Condition: not provided
Fanconi anemia complementation group N

Criteria Provided
Conflicting Classifications

CA299688

rs_567706422

15 SubmittersRCV000160826 RCV000123332 RCV000212765 RCV000858740 RCV001121824

NM_024675.4(PALB2):c.1637T>C (p.Val546Ala)

SNV
Germline

Chr16:23634909

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
Fanconi anemia complementation group N
Pancreatic cancer, susceptibility to, 3
Familial cancer of breast
PALB2-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA332967

rs_148647206

10 SubmittersRCV000123333 RCV000215046 RCV000589758 RCV002492444 RCV004739425 RCV006456717

NM_024675.4(PALB2):c.2087C>T (p.Thr696Met)

SNV
Germline

Chr16:23630067

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA170045

rs_587780820

12 SubmittersRCV000123336 RCV000132543 RCV001030277 RCV003492552 RCV004530058 RCV005016426 RCV006273537

NM_024675.4(PALB2):c.2289G>C (p.Leu763Phe)

SNV
Germline

Chr16:23629865

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Malignant tumor of breast
Breast and/or ovarian cancer
PALB2-related disorder

Criteria Provided
Conflicting Classifications

CA294144

rs_373478248

23 SubmittersRCV000123338 RCV000130052 RCV000212808 RCV000587948 RCV001357632 RCV001798407 RCV004528842

NM_024675.4(PALB2):c.2571G>A (p.Leu857=)

SNV
Germline

Chr16:23629219

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
Fanconi anemia complementation group N
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA332973

rs_587780821

6 SubmittersRCV000123339 RCV000560973 RCV000486288 RCV001535717

NM_024675.4(PALB2):c.2753C>A (p.Pro918Gln)

SNV
Germline

Chr16:23624090

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
PALB2-related disorder

Criteria Provided
Conflicting Classifications

CA332974

rs_587780822

10 SubmittersRCV000123341 RCV000220315 RCV001546031 RCV004739426

NM_024675.4(PALB2):c.722A>G (p.Asn241Ser)

SNV
Germline

Chr16:23635824

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA168406

rs_587780823

5 SubmittersRCV000123343 RCV000131587

NM_024675.4(PALB2):c.769G>A (p.Gly257Ser)

SNV
Germline

Chr16:23635777

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA194606

rs_587780824

9 SubmittersRCV000123344 RCV000165945 RCV003226206 RCV003492553 RCV004530060 RCV004589611 RCV005394457

NM_032043.3(BRIP1):c.1165G>A (p.Val389Ile)

SNV
Germline

Chr17:61799275

Conflicting classifications of pathogenicity

Fanconi anemia complementation group J
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA332977

rs_587780825

5 SubmittersRCV000123345 RCV000219844 RCV000521223 RCV003460876

NM_032043.3(BRIP1):c.1473+6A>G

SNV
Germline

Chr17:61793591

Conflicting classifications of pathogenicity

Fanconi anemia complementation group J
Familial cancer of breast
Fanconi anemia complementation group J
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Familial cancer of breast
Ovarian cancer

Criteria Provided
Conflicting Classifications

CA332986

rs_587780827

9 SubmittersRCV000123349 RCV000411067 RCV000580346 RCV001618289 RCV001818297 RCV003315825 RCV005430169

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.2097+7G>A

SNV
Germline

Chr17:61776394

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Fanconi anemia complementation group J
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group J
Familial cancer of breast
Malignant tumor of breast
Breast and/or ovarian cancer
Ovarian cancer

Criteria Provided
Conflicting Classifications

CA289756

rs_4988352

27 SubmittersRCV000123353 RCV000124038 RCV000412184 RCV000579602 RCV000990005 RCV001079247 RCV001354110 RCV001798408 RCV005430171

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.3275C>T (p.Pro1092Leu)

SNV
Germline

Chr17:61683771

Conflicting classifications of pathogenicity

Fanconi anemia complementation group J
Familial cancer of breast
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 1
Familial cancer of breast
BRIP1-related disorder
Ovarian cancer
Fanconi anemia complementation group J

Criteria Provided
Conflicting Classifications

CA165900

rs_587780830

10 SubmittersRCV000123358 RCV000130186 RCV000442394 RCV001284121 RCV004584610 RCV003315827 RCV004732691 RCV005430172

NM_032043.3(BRIP1):c.612C>G (p.Ser204=)

SNV
Germline

Chr17:61847116

Conflicting classifications of pathogenicity

Fanconi anemia complementation group J
Familial cancer of breast
Fanconi anemia complementation group J
not specified
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Ovarian cancer

Criteria Provided
Conflicting Classifications

CA332993

rs_587780832

7 SubmittersRCV000123362 RCV000410021 RCV000603905 RCV000776533 RCV003315828 RCV005430173

NM_032043.3(BRIP1):c.627+1G>A

SNV
Germline

Chr17:61847100

Pathogenic/Likely pathogenic

Fanconi anemia complementation group J
Familial cancer of breast
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA298834

rs_587780833

4 SubmittersRCV000123363 RCV000160322 RCV000223616

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_000051.4(ATM):c.7044G>A (p.Thr2348=)

SNV
Germline

Chr11:108327713

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
not specified
Familial cancer of breast
Breast and/or ovarian cancer
Condition: not provided
ATM-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA289519

rs_140104789

15 SubmittersRCV000123712 RCV000196795 RCV000212057 RCV003315830 RCV003492555 RCV004546434 RCV005359170

NM_000051.4(ATM):c.8671+9T>G

SNV
Germline

Chr11:108347374

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
Ataxia-telangiectasia syndrome
Familial cancer of breast
Familial colorectal cancer type X

Criteria Provided
Conflicting Classifications

CA289528

rs_200190537

16 SubmittersRCV000123717 RCV000448274 RCV000589757 RCV000988738 RCV002288615 RCV005359171

NM_000051.4(ATM):c.1773T>C (p.Asn591=)

SNV
Germline

Chr11:108252002

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Ataxia-telangiectasia syndrome
Breast and/or ovarian cancer
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA289535

rs_61734356

21 SubmittersRCV000123723 RCV000196069 RCV000211968 RCV001085839 RCV001798412 RCV004589614

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_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_032043.3(BRIP1):c.2310T>C (p.Asp770=)

SNV
Germline

Chr17:61743082

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA289737

rs_148752066

7 SubmittersRCV000124024 RCV000212322 RCV000467053 RCV004786388 RCV004530072 RCV006259036

NM_032043.3(BRIP1):c.380-17T>A

SNV
Germline

Chr17:61849273

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
Fanconi anemia complementation group J
Familial cancer of breast
Breast and/or ovarian cancer
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA289740

rs_200050729

14 SubmittersRCV000124025 RCV000580079 RCV000679789 RCV001397865 RCV003149853 RCV005235028

NM_032043.3(BRIP1):c.3459T>C (p.Asp1153=)

SNV
Germline

Chr17:61683587

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Fanconi anemia complementation group J
Condition: not provided
Familial cancer of breast
Fanconi anemia complementation group J
Familial cancer of breast
Breast and/or ovarian cancer
BRIP1-related disorder
Ovarian cancer

Criteria Provided
Conflicting Classifications

CA289745

rs_4987050

19 SubmittersRCV000124030 RCV000212336 RCV000411782 RCV000679785 RCV000989977 RCV001082541 RCV001798415 RCV004732693 RCV005430177

NM_032043.3(BRIP1):c.-30-3T>C

SNV
Germline

Chr17:61861572

Conflicting classifications of pathogenicity

not specified
Fanconi anemia complementation group J
Condition: not provided
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA289748

rs_370728413

9 SubmittersRCV000124031 RCV001122188 RCV001689674 RCV000990046 RCV000580838

NM_032043.3(BRIP1):c.36G>T (p.Gly12=)

SNV
Germline

Chr17:61861504

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Fanconi anemia complementation group J
Condition: not provided
Fanconi anemia complementation group J
Familial cancer of breast
Breast and/or ovarian cancer
Familial cancer of breast
Ovarian cancer

Criteria Provided
Conflicting Classifications

CA289749

rs_45566938

15 SubmittersRCV000124032 RCV000212296 RCV000410111 RCV000588076 RCV001086934 RCV001798416 RCV003315841 RCV005430178

NM_032043.3(BRIP1):c.1629-11T>C

SNV
Germline

Chr17:61781016

Conflicting classifications of pathogenicity

not specified
Fanconi anemia complementation group J
Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group J
Familial cancer of breast
Familial cancer of breast
Ovarian cancer
Fanconi anemia complementation group J

Criteria Provided
Conflicting Classifications

CA289755

rs_375710640

9 SubmittersRCV000124036 RCV000383630 RCV000580125 RCV002055435 RCV003315843 RCV005430180

NM_021830.5(TWNK):c.1735-14C>A

SNV
Germline

Chr10:100993176

Conflicting classifications of pathogenicity

not specified
Infantile onset spinocerebellar ataxia
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3
Autosomal recessive cerebellar ataxia
Condition: not provided
Ovarian serous cystadenocarcinoma
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA289762

rs_201795189

5 SubmittersRCV000124046 RCV000314586 RCV000335702 RCV000369307 RCV000396649 RCV002055436 RCV005890591 RCV005890590

NM_007194.4(CHEK2):c.*18C>T

SNV
Germline

Chr22:28687879

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Breast and/or ovarian cancer
CHEK2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA290074

rs_17884403

12 SubmittersRCV000124268 RCV000580710 RCV000411985 RCV001682839 RCV003149858 RCV005414459

NM_001371596.2(MFSD8):c.1351-9C>A

SNV
Germline

Chr4:127920845

Conflicting classifications of pathogenicity

not specified
Neuronal ceroid lipofuscinosis 7
Retinal dystrophy
Late-infantile neuronal ceroid lipofuscinosis
MFSD8-related disorder
Familial cancer of breast
Cervical cancer

Criteria Provided
Conflicting Classifications

CA292094

rs_75039907

7 SubmittersRCV000126766 RCV000462645 RCV001074091 RCV001831924 RCV004757961 RCV005886631 RCV005886632

NM_001377299.1(NDUFS2):c.1354+5G>A

SNV
Germline

Chr1:161213926

Conflicting classifications of pathogenicity

not specified
Mitochondrial complex I deficiency, nuclear type 1
Condition: not provided
NDUFS2-related disorder
Optic atrophy
Colorectal cancer
Gastric cancer
Ovarian serous cystadenocarcinoma
Thyroid cancer, nonmedullary, 1
Familial cancer of breast
Uveal melanoma
Melanoma

Criteria Provided
Conflicting Classifications

CA292498

rs_190184430

8 SubmittersRCV000127152 RCV000275644 RCV001303885 RCV003965059 RCV004815196 RCV005886717 RCV005886718 RCV005886719 RCV005886720 RCV005886715 RCV005886716 RCV005886721

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_000465.4(BARD1):c.1568+15G>T

SNV
Germline

Chr2:214767467

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA163527

rs_145936354

8 SubmittersRCV000128899 RCV000679333 RCV001141499 RCV001358417 RCV006273538

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_007194.4(CHEK2):c.444+3A>G

SNV
Germline

Chr22:28725240

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Malignant tumor of breast
CHEK2-related disorder

Criteria Provided
Conflicting Classifications

CA163557

rs_587781279

10 SubmittersRCV000128944 RCV000231163 RCV000578769 RCV001355288 RCV004737214

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_032043.3(BRIP1):c.2753C>T (p.Thr918Ile)

SNV
Germline

Chr17:61685988

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA163640

rs_587781298

2 SubmittersRCV000129006 RCV002295282

NM_032043.3(BRIP1):c.3103C>T (p.Arg1035Cys)

SNV
Germline

Chr17:61683943

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA163643

rs_45437094

20 SubmittersRCV000129008 RCV000410906 RCV000590794 RCV001081667 RCV001355322 RCV001800423 RCV003149886 RCV003315867 RCV004532542 RCV005430182

NM_000051.4(ATM):c.6047A>G (p.Asp2016Gly)

SNV
Germline

Chr11:108315863

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided
Breast carcinoma
Abnormal central motor function
Familial cancer of breast
Familial cancer of breast
Ataxia-telangiectasia syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA163663

rs_587781302

10 SubmittersRCV000129013 RCV000449587 RCV001090516 RCV001657792 RCV001814064 RCV003155920 RCV005049427

NM_032043.3(BRIP1):c.3149C>A (p.Thr1050Asn)

SNV
Germline

Chr17:61683897

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group J
Condition: not provided
Familial cancer of breast
Familial ovarian cancer
not specified
Ovarian cancer
Fanconi anemia complementation group J

Criteria Provided
Conflicting Classifications

CA163667

rs_373040333

12 SubmittersRCV000129015 RCV000197620 RCV000213740 RCV003315868 RCV005359194 RCV005055596 RCV005430183

NM_000051.4(ATM):c.133C>T (p.Arg45Trp)

SNV
Germline

Chr11:108227836

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided
not specified
Familial cancer of breast
Ataxia-telangiectasia syndrome
Familial cancer of breast
Familial colorectal cancer type X

Criteria Provided
Conflicting Classifications

CA163682

rs_3218684

12 SubmittersRCV000129025 RCV000199094 RCV000219679 RCV001199867 RCV002498640 RCV003315869 RCV005359195

NM_007194.4(CHEK2):c.661A>G (p.Ile221Val)

SNV
Germline

Chr22:28719417

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
CHEK2-related disorder

Criteria Provided
Conflicting Classifications

CA163697

rs_199749372

9 SubmittersRCV000129028 RCV000206722 RCV000481035 RCV004532543

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_000465.4(BARD1):c.1013C>A (p.Thr338Asn)

SNV
Germline

Chr2:214780861

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA163716

rs_587781313

6 SubmittersRCV000129042 RCV000464058 RCV001526908 RCV003236781

NM_000051.4(ATM):c.4666T>C (p.Tyr1556His)

SNV
Germline

Chr11:108293367

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA163737

rs_587781320

11 SubmittersRCV000129059 RCV000530097 RCV000587733 RCV004567076 RCV005042244

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_032043.3(BRIP1):c.3025G>A (p.Gly1009Arg)

SNV
Germline

Chr17:61684021

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group J
not specified

Criteria Provided
Conflicting Classifications

CA163764

rs_587781328

4 SubmittersRCV000129073 RCV000636097 RCV003321509

NM_000051.4(ATM):c.2494C>T (p.Arg832Cys)

SNV
Germline

Chr11:108267198

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
not specified
Condition: not provided
Breast and/or ovarian cancer
ATM-related disorder
Hereditary cancer
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA293954

rs_2229022

22 SubmittersRCV000129082 RCV000199664 RCV000211982 RCV000587618 RCV003492583 RCV004551237 RCV004700436 RCV004589620

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_024675.4(PALB2):c.1697G>C (p.Arg566Pro)

SNV
Germline

Chr16:23630457

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Pancreatic cancer, susceptibility to, 3
Fanconi anemia complementation group N
Breast-ovarian cancer, familial, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA163866

rs_144617793

7 SubmittersRCV000129134 RCV000476315 RCV001775617 RCV005394468

NM_004360.5(CDH1):c.2254G>A (p.Val752Ile)

SNV
Germline

Chr16:68828263

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary diffuse gastric adenocarcinoma
Condition: not provided
not specified
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA163869

rs_587781351

8 SubmittersRCV000129135 RCV000229329 RCV000479491 RCV002265613 RCV003460889

NM_000051.4(ATM):c.8473C>T (p.Gln2825Ter)

SNV
Germline

Chr11:108345797

Pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Ataxia-telangiectasia syndrome
Familial cancer of breast
ATM-related cancer predisposition

Reviewed By Expert Panel

CA163889

rs_587781363

10 SubmittersRCV000129156 RCV000523615 RCV000549950 RCV003467103 RCV005867916

NM_000051.4(ATM):c.7592T>C (p.Met2531Thr)

SNV
Germline

Chr11:108331520

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided
not specified
Familial cancer of breast
ATM-related disorder

Criteria Provided
Conflicting Classifications

CA293988

rs_587781365

14 SubmittersRCV000129166 RCV000195721 RCV000656762 RCV001192416 RCV003460890 RCV004551240

NM_007194.4(CHEK2):c.*5C>T

SNV
Germline

Chr22:28687892

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA163907

rs_587781367

5 SubmittersRCV000129171 RCV001357135 RCV005246661

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_000051.4(ATM):c.1703G>T (p.Arg568Ile)

SNV
Germline

Chr11:108251932

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
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA294000

rs_200381392

19 SubmittersRCV000129176 RCV000195658 RCV000416037 RCV000515396 RCV000855571 RCV001357003 RCV004589621

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.727T>C (p.Cys243Arg)

SNV
Germline

Chr22:28711974

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
CHEK2-related cancer predisposition
not specified
CHEK2-related disorder
Bone osteosarcoma
Familial prostate cancer
CHEK2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA294007

rs_141776984

15 SubmittersRCV000129205 RCV000205087 RCV000590667 RCV001292616 RCV001731481 RCV004737215 RCV005031636

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_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_007194.4(CHEK2):c.73G>A (p.Val25Ile)

SNV
Germline

Chr22:28734649

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
not specified
Familial prostate cancer

Criteria Provided
Conflicting Classifications

CA164058

rs_142243299

8 SubmittersRCV000129252 RCV000690552 RCV003237736 RCV003320459 RCV005359203

NM_000465.4(BARD1):c.160A>G (p.Thr54Ala)

SNV
Germline

Chr2:214797116

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
not specified

Criteria Provided
Conflicting Classifications

CA164088

rs_200254470

10 SubmittersRCV000129266 RCV000236190 RCV000473762 RCV003320570

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_032043.3(BRIP1):c.2948T>A (p.Ile983Asn)

SNV
Germline

Chr17:61684098

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
Familial cancer of breast
Ovarian cancer
Familial ovarian cancer

Criteria Provided
Conflicting Classifications

CA164119

rs_587781417

8 SubmittersRCV000129283 RCV000412403 RCV000636117 RCV001775619 RCV003315873 RCV005430185 RCV005359204

NM_032043.3(BRIP1):c.823A>G (p.Ile275Val)

SNV
Germline

Chr17:61808562

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group J
Condition: not provided
Familial cancer of breast
Breast and/or ovarian cancer
Ovarian cancer
Fanconi anemia complementation group J

Criteria Provided
Conflicting Classifications

CA164166

rs_587781425

12 SubmittersRCV000129307 RCV000473432 RCV000485268 RCV002288624 RCV003492588 RCV005430186

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_000465.4(BARD1):c.733C>T (p.Gln245Ter)

SNV
Germline

Chr2:214781141

Pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA164190

rs_587781430

6 SubmittersRCV000129318 RCV000480724 RCV000692258

NM_007194.4(CHEK2):c.1567C>T (p.Arg523Cys)

SNV
Germline

Chr22:28687962

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
not specified
Breast and/or ovarian cancer
CHEK2-related disorder
Bone osteosarcoma
Familial prostate cancer
CHEK2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA294024

rs_149501505

14 SubmittersRCV000129321 RCV000212479 RCV000228412 RCV003235052 RCV003492589 RCV004532549 RCV005025207

NM_000465.4(BARD1):c.1877A>G (p.Asn626Ser)

SNV
Germline

Chr2:214745093

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
not specified
Condition: not provided
Breast and/or ovarian cancer

Criteria Provided
Conflicting Classifications

CA164264

rs_587781443

9 SubmittersRCV000129356 RCV000458915 RCV000587311 RCV001546125 RCV003149890

NM_000465.4(BARD1):c.1067A>T (p.Asn356Ile)

SNV
Germline

Chr2:214780807

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided

Criteria Provided
Conflicting Classifications

CA164292

rs_577834428

7 SubmittersRCV000129369 RCV000234423 RCV000758760

NM_000051.4(ATM):c.8965C>G (p.Gln2989Glu)

SNV
Germline

Chr11:108365196

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided
Familial cancer of breast
Malignant tumor of breast
not specified

Criteria Provided
Conflicting Classifications

CA294038

rs_147695170

11 SubmittersRCV000129371 RCV000204504 RCV000212094 RCV001262814 RCV001358613 RCV002298476

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_000465.4(BARD1):c.835T>C (p.Ser279Pro)

SNV
Germline

Chr2:214781039

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA333190

rs_587781456

6 SubmittersRCV000129387 RCV000203936 RCV000378845 RCV001356926

NM_024675.4(PALB2):c.2712G>A (p.Trp904Ter)

SNV
Germline

Chr16:23626272

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA164329

rs_587781457

6 SubmittersRCV000129390 RCV000485246 RCV000799015

NM_024675.4(PALB2):c.2417C>T (p.Pro806Leu)

SNV
Germline

Chr16:23629737

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Pancreatic cancer, susceptibility to, 3
not specified
Malignant tumor of breast
Breast and/or ovarian cancer

Criteria Provided
Conflicting Classifications

CA164360

rs_45464991

13 SubmittersRCV000129403 RCV000204760 RCV000235688 RCV001030305 RCV001192769 RCV001355012 RCV003149891

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_024675.4(PALB2):c.438A>C (p.Arg146Ser)

SNV
Germline

Chr16:23636108

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
not specified

Criteria Provided
Conflicting Classifications

CA294070

rs_587781498

9 SubmittersRCV000129467 RCV000212775 RCV000410126 RCV006268620

NM_024675.4(PALB2):c.2743G>A (p.Ala915Thr)

SNV
Germline

Chr16:23626241

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Malignant tumor of breast
Diffuse midline glioma, H3 K27-altered
PALB2-related disorder
Breast-ovarian cancer, familial, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA164485

rs_374736398

11 SubmittersRCV000129474 RCV000471567 RCV000481045 RCV001355149 RCV003315231 RCV004545873 RCV005600709

NM_000051.4(ATM):c.3628A>G (p.Met1210Val)

SNV
Germline

Chr11:108282761

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Ataxia-telangiectasia syndrome
not specified
Familial cancer of breast
ATM-related disorder

Criteria Provided
Conflicting Classifications

CA164516

rs_138212452

11 SubmittersRCV000129482 RCV000482081 RCV000529913 RCV001193060 RCV003467109 RCV004739430

NM_000051.4(ATM):c.967A>G (p.Ile323Val)

SNV
Germline

Chr11:108247029

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA164527

rs_587781511

9 SubmittersRCV000129488 RCV000486107 RCV000675169 RCV002483260 RCV004019731

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_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_000051.4(ATM):c.6739A>G (p.Ile2247Val)

SNV
Germline

Chr11:108325476

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA164564

rs_587781521

9 SubmittersRCV000129510 RCV000196259 RCV002262749 RCV003460894

NM_004360.5(CDH1):c.1927A>G (p.Asn643Asp)

SNV
Germline

Chr16:68822216

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary diffuse gastric adenocarcinoma
Endometrial carcinoma
Ovarian cancer
Blepharocheilodontic syndrome 1
Familial cancer of breast
Hereditary diffuse gastric adenocarcinoma

Criteria Provided
Conflicting Classifications

CA164642

rs_587781540

6 SubmittersRCV000129550 RCV001577632 RCV001849924 RCV005016434

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_000051.4(ATM):c.283C>T (p.Gln95Ter)

SNV
Germline

Chr11:108229275

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Ataxia-telangiectasia syndrome
Familial cancer of breast
Ataxia-telangiectasia syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA164660

rs_587781545

8 SubmittersRCV000129559 RCV001194302 RCV001857440 RCV002492495

NM_000465.4(BARD1):c.1070T>C (p.Ile357Thr)

SNV
Germline

Chr2:214780804

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
BARD1-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA164689

rs_587781555

6 SubmittersRCV000129571 RCV000228197 RCV003327369 RCV005600711

NM_000051.4(ATM):c.2921+1G>A

SNV
Germline/somatic

Chr11:108271147

Pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided
not specified
Familial cancer of breast
Ataxia-telangiectasia syndrome
Endometrial carcinoma
Familial cancer of breast
Neoplasm
ATM-related disorder
Clear cell carcinoma of kidney

Criteria Provided
Multiple Submitters
No Conflicts

CA164701

rs_587781558

29 SubmittersRCV000129576 RCV000169059 RCV000215085 RCV000507017 RCV000762820 RCV003128149 RCV003467112 RCV004668790 RCV004739431 RCV005886902

NM_000051.4(ATM):c.2021A>G (p.His674Arg)

SNV
Germline

Chr11:108253936

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Bilateral breast carcinoma
Condition: not provided
Familial cancer of breast
Ataxia-telangiectasia syndrome
not specified
Malignant tumor of breast
Breast and/or ovarian cancer
Familial cancer of breast
ATM-related disorder

Criteria Provided
Conflicting Classifications

CA164702

rs_201762714

22 SubmittersRCV000129577 RCV000168255 RCV000181010 RCV000236547 RCV000515195 RCV000780908 RCV001356825 RCV003492590 RCV004589624 RCV004551243

NM_004360.5(CDH1):c.1565+1G>T

SNV
Germline

Chr16:68815760

Pathogenic

Hereditary cancer-predisposing syndrome
Hereditary diffuse gastric adenocarcinoma
Condition: not provided
CDH1-related diffuse gastric and lobular breast cancer syndrome
Familial cancer of breast

Reviewed By Expert Panel

CA164768

rs_587780113

12 SubmittersRCV000129610 RCV000639239 RCV000985655 RCV003328208 RCV003474752

NM_000051.4(ATM):c.2377A>G (p.Lys793Glu)

SNV
Germline

Chr11:108258986

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
not specified
Familial cancer of breast
ATM-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA164793

rs_587781583

7 SubmittersRCV000129623 RCV000227337 RCV003323408 RCV003467114 RCV005359208

NM_000051.4(ATM):c.6095+1G>A

SNV
Germline

Chr11:108315912

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA164796

rs_587781584

7 SubmittersRCV000129624 RCV000780909 RCV003114280 RCV003467115

NM_000465.4(BARD1):c.335G>A (p.Arg112Gln)

SNV
Germline

Chr2:214792326

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Familial cancer of breast
Condition: not provided
BARD1-related disorder

Criteria Provided
Conflicting Classifications

CA164844

rs_587781591

7 SubmittersRCV000129641 RCV000780950 RCV000551695 RCV002512532 RCV003407542

NM_007194.4(CHEK2):c.151C>T (p.Gln51Ter)

SNV
Germline

Chr22:28734571

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA164865

rs_587781592

6 SubmittersRCV000129647 RCV000195906 RCV003321510

NM_000051.4(ATM):c.7913G>A (p.Trp2638Ter)

SNV
Germline

Chr11:108332886

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided
Familial cancer of breast
Ataxia-telangiectasia syndrome
See cases
Familial cancer of breast
ATM-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA294097

rs_377349459

20 SubmittersRCV000129649 RCV000169621 RCV000212077 RCV000768151 RCV002251994 RCV003460899 RCV004739433

NM_000465.4(BARD1):c.1108C>T (p.Arg370Cys)

SNV
Germline

Chr2:214780766

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
BARD1-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA164888

rs_587781596

11 SubmittersRCV000129660 RCV000232099 RCV000985344 RCV005600712

NM_000051.4(ATM):c.8505C>A (p.Cys2835Ter)

SNV
Germline

Chr11:108345829

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA164890

rs_587781597

8 SubmittersRCV000129661 RCV000557950 RCV003467116 RCV004998263

NM_000051.4(ATM):c.1888G>A (p.Val630Met)

SNV
Germline

Chr11:108252902

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Ataxia-telangiectasia syndrome
Malignant tumor of breast
not specified
Breast and/or ovarian cancer
ATM-related disorder
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA164912

rs_148191382

16 SubmittersRCV000129681 RCV000590311 RCV001079129 RCV001356176 RCV001731482 RCV003149894 RCV004551246 RCV004589625

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_004360.5(CDH1):c.1897G>A (p.Gly633Arg)

SNV
Germline

Chr16:68822186

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary diffuse gastric adenocarcinoma
Familial cancer of breast
CDH1-related disorder

Criteria Provided
Conflicting Classifications

CA164951

rs_587781615

5 SubmittersRCV000129704 RCV000792280 RCV004567093 RCV004724825

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_004360.5(CDH1):c.854C>T (p.Thr285Ile)

SNV
Germline

Chr16:68811705

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary diffuse gastric adenocarcinoma
Condition: not provided
Familial cancer of breast
CDH1-related disorder

Criteria Provided
Conflicting Classifications

CA165006

rs_587781634

11 SubmittersRCV000129743 RCV000534721 RCV000656819 RCV003460901 RCV003925275

NM_000051.4(ATM):c.3154-5C>T

SNV
Germline

Chr11:108272717

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA165018

rs_55719759

12 SubmittersRCV000129749 RCV000462650 RCV000779795 RCV001311785 RCV004589627 RCV005394473

NM_032043.3(BRIP1):c.2689A>G (p.Lys897Glu)

SNV
Germline

Chr17:61686052

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Fanconi anemia complementation group J

Criteria Provided
Conflicting Classifications

CA165061

rs_587781644

4 SubmittersRCV000129774 RCV000478765 RCV001088100

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_032043.3(BRIP1):c.485G>A (p.Arg162Gln)

SNV
Germline

Chr17:61849151

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA165098

rs_61757643

7 SubmittersRCV000129791 RCV000424619 RCV000466396 RCV003387768

NM_032043.3(BRIP1):c.918+1G>A

SNV
Germline

Chr17:61808466

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Fanconi anemia complementation group J
Fanconi anemia complementation group J
Familial cancer of breast
Breast and/or ovarian cancer
Ovarian cancer, susceptibility to, 1
Familial ovarian cancer
Inherited ovarian cancer (without breast cancer)

Criteria Provided
Multiple Submitters
No Conflicts

CA165105

rs_587781655

16 SubmittersRCV000129793 RCV000434292 RCV000472419 RCV001781468 RCV003335113 RCV003492592 RCV005256567 RCV005600715 RCV006252558

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_032043.3(BRIP1):c.3237T>G (p.Ile1079Met)

SNV
Germline

Chr17:61683809

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Fanconi anemia complementation group J
Familial cancer of breast
Familial cancer of breast
Condition: not provided
Fanconi anemia complementation group J
Ovarian cancer

Criteria Provided
Conflicting Classifications

CA165144

rs_587781666

9 SubmittersRCV000129821 RCV000780068 RCV000200144 RCV003315884 RCV000758998 RCV005430187

NM_000051.4(ATM):c.7096G>T (p.Glu2366Ter)

SNV
Germline

Chr11:108329027

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA165161

rs_587781672

9 SubmittersRCV000129830 RCV000169152 RCV002467440 RCV003128614

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_000051.4(ATM):c.8998C>T (p.Gln3000Ter)

SNV
Germline

Chr11:108365335

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast
Familial cancer of breast
Ataxia-telangiectasia syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA165254

rs_587781698

6 SubmittersRCV000129865 RCV000576680 RCV004019733 RCV005042251

NM_007194.4(CHEK2):c.908+1G>A

SNV
Germline

Chr22:28703504

Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA165257

rs_587781699

5 SubmittersRCV000129866 RCV000546023 RCV002225428

NM_004360.5(CDH1):c.2017C>A (p.Gln673Lys)

SNV
Germline

Chr16:68823479

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary diffuse gastric adenocarcinoma
Condition: not provided
Breast and/or ovarian cancer
Familial cancer of breast
not specified
CDH1-related disorder
Ovarian cancer
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA294129

rs_587781701

12 SubmittersRCV000129870 RCV000459635 RCV000589626 RCV001798437 RCV003460904 RCV004586561 RCV004739435 RCV005359217

NM_007194.4(CHEK2):c.216T>G (p.Tyr72Ter)

SNV
Germline

Chr22:28734506

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast
CHEK2-related cancer predisposition
Bone osteosarcoma
Prostate cancer
Familial cancer of breast
Condition: not provided
Predisposition to cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA165273

rs_587781705

8 SubmittersRCV000129876 RCV000763478 RCV001247758 RCV004998264 RCV005055075

NM_032043.3(BRIP1):c.1240C>T (p.Gln414Ter)

SNV
Germline

Chr17:61799200

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group J
Condition: not provided
Familial cancer of breast
Fanconi anemia complementation group J
Familial cancer of breast
BRIP1-associated familial cancer predisposition
Ovarian cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA165277

rs_368796923

10 SubmittersRCV000129878 RCV000409609 RCV000445256 RCV000701846 RCV000781179 RCV003335116 RCV005430188

NM_000465.4(BARD1):c.1652C>G (p.Ser551Ter)

SNV
Germline

Chr2:214752472

Pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Breast cancer, susceptibility to
BARD1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA333205

rs_587781707

14 SubmittersRCV000129880 RCV000206283 RCV000212133 RCV000501812 RCV004739436

NM_000051.4(ATM):c.4673C>T (p.Thr1558Met)

SNV
Germline

Chr11:108293374

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Ataxia-telangiectasia syndrome
Familial cancer of breast
Ataxia-telangiectasia syndrome
not specified
Diffuse midline glioma, H3 K27-altered
Familial cancer of breast
ATM-related disorder

Criteria Provided
Conflicting Classifications

CA294134

rs_587781712

13 SubmittersRCV000129888 RCV000212020 RCV000542530 RCV000763704 RCV002222401 RCV003315232 RCV003467125 RCV004551250

NM_032043.3(BRIP1):c.3651G>T (p.Trp1217Cys)

SNV
Germline

Chr17:61683395

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group J
Condition: not provided
Familial cancer of breast
Hereditary cancer
not specified

Criteria Provided
Conflicting Classifications

CA165328

rs_542698396

11 SubmittersRCV000129907 RCV000227303 RCV000657056 RCV000989972 RCV003492594 RCV004595931

NM_000051.4(ATM):c.5908C>T (p.Gln1970Ter)

SNV
Germline

Chr11:108310305

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided
Familial cancer of breast
Ataxia-telangiectasia syndrome
Ataxia-telangiectasia syndrome
Breast cancer, susceptibility to
Familial cancer of breast
ATM-related cancer predisposition

Criteria Provided
Multiple Submitters
No Conflicts

CA165332

rs_587781722

17 SubmittersRCV000129909 RCV000200350 RCV000235704 RCV000762823 RCV001258121 RCV003460905 RCV006554462

NM_000465.4(BARD1):c.947T>G (p.Leu316Ter)

SNV
Germline

Chr2:214780927

Pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA165353

rs_587781728

2 SubmittersRCV000129918 RCV003335118

NM_000051.4(ATM):c.3993+1G>A

SNV
Germline

Chr11:108284474

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA165426

rs_200196781

12 SubmittersRCV000129961 RCV000228950 RCV000438634 RCV003155921 RCV005055598

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_000314.8(PTEN):c.493-2A>G

SNV
Germline

Chr10:87952116

Pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Cowden syndrome 1
PTEN hamartoma tumor syndrome
Squamous cell lung carcinoma
Familial cancer of breast

Reviewed By Expert Panel

CA000478

rs_587781784

11 SubmittersRCV000130038 RCV000254682 RCV000515821 RCV000710293 RCV005886912 RCV005886911

NM_032043.3(BRIP1):c.463C>T (p.Gln155Ter)

SNV
Germline

Chr17:61849173

Pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA165590

rs_587781786

6 SubmittersRCV000130041 RCV000213568 RCV000699984 RCV003335119

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_024675.4(PALB2):c.3201+1G>T

SNV
Germline

Chr16:23614003

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA165631

rs_587776423

4 SubmittersRCV000130058 RCV001206798

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_000051.4(ATM):c.2531G>A (p.Gly844Glu)

SNV
Germline

Chr11:108267235

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided
Familial cancer of breast
not specified
ATM-related disorder

Criteria Provided
Conflicting Classifications

CA294150

rs_587781808

10 SubmittersRCV000130079 RCV000168121 RCV000211983 RCV002288634 RCV003226209 RCV004551252

NM_000051.4(ATM):c.3284G>A (p.Arg1095Lys)

SNV
Germline

Chr11:108272852

Likely pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast
ATM-related cancer predisposition

Reviewed By Expert Panel

CA165678

rs_587781815

5 SubmittersRCV000130088 RCV001037119 RCV005867918 RCV005438366

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_024675.4(PALB2):c.1364A>G (p.Asn455Ser)

SNV
Germline

Chr16:23635182

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Fanconi anemia complementation group N

Criteria Provided
Conflicting Classifications

CA294158

rs_587781824

7 SubmittersRCV000130104 RCV000212792 RCV000409652 RCV001116859

NM_000051.4(ATM):c.616A>C (p.Asn206His)

SNV
Germline

Chr11:108244072

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA165723

rs_587781829

7 SubmittersRCV000130115 RCV000463431 RCV000480488 RCV003467132

NM_007194.4(CHEK2):c.1212T>A (p.Tyr404Ter)

SNV
Germline

Chr22:28695757

Pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA165763

rs_587781836

3 SubmittersRCV000130129 RCV003335120

NM_024675.4(PALB2):c.3044C>T (p.Thr1015Ile)

SNV
Germline

Chr16:23621431

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA165765

rs_367840862

7 SubmittersRCV000130130 RCV000236113 RCV000781686 RCV000689784

NM_000051.4(ATM):c.7999A>G (p.Met2667Val)

SNV
Germline

Chr11:108333957

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Ataxia-telangiectasia syndrome
Breast and/or ovarian cancer
Familial cancer of breast
ATM-related disorder

Criteria Provided
Conflicting Classifications

CA165779

rs_34099398

11 SubmittersRCV000130136 RCV000416016 RCV000474473 RCV001798440 RCV002288635 RCV004739439

NM_000051.4(ATM):c.1379C>T (p.Thr460Met)

SNV
Germline

Chr11:108250844

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA165785

rs_587781841

9 SubmittersRCV000130139 RCV000466948 RCV000478287 RCV001196781 RCV004595932

NM_000051.4(ATM):c.7618G>A (p.Val2540Ile)

SNV
Germline

Chr11:108331546

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
ATM-related disorder
Intellectual disability
ATM-related cancer predisposition
Familial cancer of breast
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

CA165843

rs_35203200

24 SubmittersRCV000130162 RCV000167957 RCV000236319 RCV000779778 RCV001798442 RCV003474759 RCV004739440 RCV005625307 RCV005365023 RCV005042252

NM_024675.4(PALB2):c.1042C>A (p.Gln348Lys)

SNV
Germline

Chr16:23635504

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
not specified
Chordoma
PALB2-related disorder

Criteria Provided
Conflicting Classifications

CA165871

rs_375699023

13 SubmittersRCV000130172 RCV000232741 RCV000589687 RCV001251061 RCV002266924 RCV004739441

NM_032043.3(BRIP1):c.728T>C (p.Ile243Thr)

SNV
Germline

Chr17:61808657

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Fanconi anemia complementation group J
Fanconi anemia complementation group J
Familial cancer of breast
not specified
Hereditary cancer

Criteria Provided
Conflicting Classifications

CA165876

rs_587781860

13 SubmittersRCV000130174 RCV000484934 RCV000473070 RCV000709557 RCV000990023 RCV003321513 RCV003492596

NM_000465.4(BARD1):c.1448A>G (p.His483Arg)

SNV
Germline

Chr2:214767602

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Familial pancreatic carcinoma
not specified
BARD1-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA333217

rs_587781874

12 SubmittersRCV000130200 RCV000206542 RCV001284525 RCV001354083 RCV004767083 RCV005600718

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_000051.4(ATM):c.9023G>A (p.Arg3008His)

SNV
Germline/somatic

Chr11:108365360

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided
Malignant tumor of breast
Gastric cancer
Familial cancer of breast
Familial cancer of breast
Ataxia-telangiectasia syndrome
Inherited breast cancer and ovarian cancer
ATM-related cancer predisposition
Diffuse midline glioma, H3 K27M-mutant

Criteria Provided
Conflicting Classifications

CA165987

rs_587781894

16 SubmittersRCV000130230 RCV000196159 RCV000254719 RCV002281955 RCV003162582 RCV003467134 RCV005394475 RCV006436676 RCV006554464 RCV006253813

NM_000051.4(ATM):c.3388G>T (p.Gly1130Ter)

SNV
Germline

Chr11:108279594

Pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA166048

rs_587781911

5 SubmittersRCV000130253 RCV001223207 RCV004019737

NM_032043.3(BRIP1):c.3298G>A (p.Asp1100Asn)

SNV
Germline

Chr17:61683748

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group J
Familial cancer of breast
Condition: not provided
not specified
Fanconi anemia complementation group J

Criteria Provided
Conflicting Classifications

CA166081

rs_587781923

10 SubmittersRCV000130274 RCV000546539 RCV000989980 RCV001284122 RCV002267875 RCV005055076

NM_000051.4(ATM):c.4776+2T>C

SNV
Germline

Chr11:108293479

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA249436

rs_587781927

13 SubmittersRCV000003170 RCV000130284 RCV000235350 RCV003467137

NM_000051.4(ATM):c.6975G>A (p.Ala2325=)

SNV
Germline

Chr11:108326225

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided
Familial cancer of breast
not specified
ATM-related disorder
ATM-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA166105

rs_556778314

12 SubmittersRCV000130288 RCV000196388 RCV000679141 RCV002243794 RCV002469019 RCV004739442 RCV005359233

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_000051.4(ATM):c.4198A>T (p.Lys1400Ter)

SNV
Germline

Chr11:108289065

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA166177

rs_587781950

7 SubmittersRCV000130320 RCV000204266 RCV000483525 RCV003460920

NM_024675.4(PALB2):c.1756G>A (p.Asp586Asn)

SNV
Germline

Chr16:23630398

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Pancreatic cancer, susceptibility to, 3
Familial cancer of breast
Fanconi anemia complementation group N
Breast and/or ovarian cancer
not specified

Criteria Provided
Conflicting Classifications

CA166193

rs_587781954

11 SubmittersRCV000130326 RCV000411835 RCV000481375 RCV000764051 RCV001798444 RCV005886913

NM_007194.4(CHEK2):c.1513T>C (p.Ser505Pro)

SNV
Germline

Chr22:28689164

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
not specified
Familial prostate cancer
CHEK2-related cancer predisposition
Bone osteosarcoma

Criteria Provided
Conflicting Classifications

CA166219

rs_587781960

11 SubmittersRCV000130339 RCV000393706 RCV000475981 RCV003150950 RCV005025212

NM_000051.4(ATM):c.8185C>T (p.Gln2729Ter)

SNV
Germline

Chr11:108335878

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA166241

rs_587781967

9 SubmittersRCV000130347 RCV000410300 RCV000657613 RCV003467141

NM_024675.4(PALB2):c.563C>G (p.Ala188Gly)

SNV
Germline

Chr16:23635983

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA166273

rs_587781975

7 SubmittersRCV000130368 RCV000168329 RCV001818311 RCV004791275

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_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_000051.4(ATM):c.646G>T (p.Ala216Ser)

SNV
Germline

Chr11:108244102

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Ataxia-telangiectasia syndrome
Familial cancer of breast
ATM-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA166296

rs_2235002

10 SubmittersRCV000130381 RCV000235636 RCV000229944 RCV003467145 RCV004551255 RCV005237566

NM_032043.3(BRIP1):c.628C>T (p.Pro210Ser)

SNV
Germline

Chr17:61808757

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group J
Condition: not provided
not specified
Familial cancer of breast
BRIP1-related disorder
Ovarian cancer
Fanconi anemia complementation group J

Criteria Provided
Conflicting Classifications

CA166320

rs_150313156

11 SubmittersRCV000130394 RCV000200420 RCV000590600 RCV001290444 RCV003315892 RCV004532557 RCV005430195

NM_000051.4(ATM):c.2836A>G (p.Met946Val)

SNV
Germline

Chr11:108268607

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided
Familial cancer of breast
Ataxia-telangiectasia syndrome
not specified
Carcinoma of colon
Familial cancer of breast
Breast and/or ovarian cancer
ATM-related disorder

Criteria Provided
Conflicting Classifications

CA166340

rs_587781992

13 SubmittersRCV000130397 RCV000168097 RCV000485729 RCV000515251 RCV000779792 RCV001356743 RCV003467147 RCV003492600 RCV004739444

NM_000546.6(TP53):c.799C>T (p.Arg267Trp)

SNV
Germline/somatic

Chr17:7673821

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Li-Fraumeni syndrome
11 conditions
Lip and oral cavity carcinoma
Familial cancer of breast
Li-Fraumeni syndrome 1
Breast and/or ovarian cancer
Adrenocortical carcinoma, hereditary
TP53-related disorder
Familial cancer of breast
Li-Fraumeni syndrome 1
Neoplasm
Medulloblastoma WNT activated

Criteria Provided
Multiple Submitters
No Conflicts

CA000423

rs_55832599

24 SubmittersRCV000130398 RCV000413074 RCV000538977 RCV000763416 RCV001255676 RCV002247507 RCV002288637 RCV003149899 RCV003460927 RCV004797597 RCV005359236 RCV006273546 RCV006253814

NM_000051.4(ATM):c.7951C>T (p.Gln2651Ter)

SNV
Germline

Chr11:108333909

Pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA166363

rs_587781994

4 SubmittersRCV000130403 RCV000411562 RCV004019739

NM_000051.4(ATM):c.8129A>G (p.Lys2710Arg)

SNV
Germline

Chr11:108335087

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA166386

rs_587782001

9 SubmittersRCV000130416 RCV000485472 RCV000547885 RCV002505108 RCV003474762

NM_024675.4(PALB2):c.424A>T (p.Lys142Ter)

SNV
Germline

Chr16:23636122

Pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Malignant tumor of breast
Breast cancer, susceptibility to
PALB2-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA166400

rs_587782005

14 SubmittersRCV000130421 RCV000412725 RCV000476449 RCV001357166 RCV002251434 RCV003387508

NM_024675.4(PALB2):c.3146T>C (p.Met1049Thr)

SNV
Germline

Chr16:23614059

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA166426

rs_138273800

18 SubmittersRCV000130431 RCV000204730 RCV000482622 RCV001194140 RCV001355887 RCV002505109 RCV003389456 RCV003444205 RCV004544294

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_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_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_032043.3(BRIP1):c.93+1G>T

SNV
Germline

Chr17:61861446

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Fanconi anemia complementation group J
Familial cancer of breast
Malignant tumor of esophagus

Criteria Provided
Multiple Submitters
No Conflicts

CA166569

rs_587782047

11 SubmittersRCV000130514 RCV000223400 RCV000558720 RCV003335121 RCV005886915

NM_024675.4(PALB2):c.3476G>A (p.Trp1159Ter)

SNV
Germline

Chr16:23603544

Pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA166575

rs_587782050

3 SubmittersRCV000130518 RCV003453075

NM_007194.4(CHEK2):c.1534C>G (p.Leu512Val)

SNV
Germline

Chr22:28689143

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Familial cancer of breast
CHEK2-related cancer predisposition
Bone osteosarcoma
Prostate cancer
not specified

Criteria Provided
Conflicting Classifications

CA166627

rs_17882942

10 SubmittersRCV000130543 RCV000197078 RCV000587712 RCV000764367 RCV004782245

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_000465.4(BARD1):c.1216C>G (p.Arg406Gly)

SNV
Germline

Chr2:214780658

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA294208

rs_377153250

6 SubmittersRCV000130569 RCV000212125 RCV000685720

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_024675.4(PALB2):c.2521A>G (p.Thr841Ala)

SNV
Germline

Chr16:23629269

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA166713

rs_368990417

2 SubmittersRCV000130589 RCV000470365

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_000051.4(ATM):c.3077G>A (p.Trp1026Ter)

SNV
Germline

Chr11:108271406

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA166759

rs_587782103

4 SubmittersRCV000130616 RCV000798032 RCV003467149

NM_000051.4(ATM):c.6326G>A (p.Trp2109Ter)

SNV
Germline

Chr11:108317500

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA166794

rs_587782114

6 SubmittersRCV000130633 RCV000521744 RCV001857452 RCV002492505 RCV003467150

NM_000465.4(BARD1):c.1793C>T (p.Thr598Ile)

SNV
Germline

Chr2:214745739

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
not specified
BARD1-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA166812

rs_376256852

11 SubmittersRCV000130644 RCV000230852 RCV000487282 RCV003320571 RCV005359241

NM_000051.4(ATM):c.5063T>C (p.Ile1688Thr)

SNV
Germline

Chr11:108299771

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Ataxia-telangiectasia syndrome
not specified
Ataxia-telangiectasia syndrome
Malignant tumor of breast
Breast and/or ovarian cancer
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA166824

rs_199836342

11 SubmittersRCV000130648 RCV000484463 RCV000538544 RCV001194272 RCV001535791 RCV003149900 RCV005359242

NM_000465.4(BARD1):c.2083G>A (p.Val695Ile)

SNV
Germline

Chr2:214728927

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
BARD1-related disorder
BARD1-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA166844

rs_111367604

9 SubmittersRCV000130659 RCV000474704 RCV000484351 RCV003398765 RCV005600724

NM_000051.4(ATM):c.1898+2T>G

SNV
Germline

Chr11:108252914

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA166848

rs_587782124

15 SubmittersRCV000130662 RCV000235311 RCV000461282 RCV003322598

NM_000051.4(ATM):c.4909+4C>T

SNV
Germline

Chr11:108295063

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA166849

rs_587782125

7 SubmittersRCV000130663 RCV000460771 RCV003467151

NM_000051.4(ATM):c.2354G>A (p.Arg785His)

SNV
Germline

Chr11:108257584

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA166861

rs_587782128

11 SubmittersRCV000130667 RCV000167917 RCV000482225 RCV002298480 RCV003153421

NM_032043.3(BRIP1):c.380-5A>G

SNV
Germline

Chr17:61849261

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA166877

rs_587782131

11 SubmittersRCV000130674 RCV000547580 RCV000990037 RCV000985642 RCV004532564 RCV005229965

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_024675.4(PALB2):c.3307G>C (p.Val1103Leu)

SNV
Germline

Chr16:23607907

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Pancreatic cancer, susceptibility to, 3
Familial cancer of breast
Fanconi anemia complementation group N
not specified
Breast and/or ovarian cancer
Ovarian cancer

Criteria Provided
Conflicting Classifications

CA166991

rs_201657283

12 SubmittersRCV000130728 RCV000226292 RCV000483048 RCV000764042 RCV001194142 RCV003149901 RCV003153422

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_000051.4(ATM):c.5039C>T (p.Pro1680Leu)

SNV
Germline

Chr11:108299747

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA166999

rs_587782153

10 SubmittersRCV000130731 RCV000205355 RCV000481018 RCV003461998

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_024675.4(PALB2):c.557A>T (p.Asn186Ile)

SNV
Germline

Chr16:23635989

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA167050

rs_587782164

12 SubmittersRCV000130756 RCV000197454 RCV000588642 RCV002478396 RCV003315411 RCV004595933

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_000051.4(ATM):c.3980T>G (p.Leu1327Ter)

SNV
Germline

Chr11:108284460

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA167215

rs_587782192

6 SubmittersRCV000130840 RCV000463924 RCV003462002 RCV005251076

NM_000051.4(ATM):c.3689A>G (p.Asn1230Ser)

SNV
Germline

Chr11:108282822

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided
Malignant tumor of breast
not specified
Familial cancer of breast
Familial cancer of breast
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

CA294243

rs_587782195

18 SubmittersRCV000130847 RCV000200096 RCV000587182 RCV001357259 RCV003321515 RCV003474771 RCV005042265

NM_000051.4(ATM):c.3242A>G (p.Asn1081Ser)

SNV
Germline

Chr11:108272810

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
Breast and/or ovarian cancer
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA294246

rs_368111672

12 SubmittersRCV000130850 RCV000475427 RCV000515162 RCV000588298 RCV001354773 RCV001731389 RCV003149903 RCV004589629

NM_024675.4(PALB2):c.1189A>T (p.Thr397Ser)

SNV
Germline

Chr16:23635357

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
not specified
Breast and/or ovarian cancer
Familial ovarian cancer
Inherited breast cancer and ovarian cancer
Breast-ovarian cancer, familial, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA294249

rs_367578415

15 SubmittersRCV000130855 RCV000205533 RCV000586638 RCV002267878 RCV003149904 RCV003447500 RCV004584197 RCV005359248

NM_007194.4(CHEK2):c.842A>G (p.Asn281Ser)

SNV
Germline

Chr22:28710010

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
not specified
CHEK2-related disorder
Hereditary nonpolyposis colon cancer

Criteria Provided
Conflicting Classifications

CA167244

rs_587782196

9 SubmittersRCV000130856 RCV000206362 RCV000222277 RCV001818319 RCV004737223 RCV005359249

NM_024675.4(PALB2):c.1127G>C (p.Ser376Thr)

SNV
Germline

Chr16:23635419

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided

Criteria Provided
Conflicting Classifications

CA167264

rs_587782200

6 SubmittersRCV000130860 RCV000465244 RCV003159104

NM_000051.4(ATM):c.8546G>A (p.Arg2849Gln)

SNV
Germline

Chr11:108345870

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Ataxia-telangiectasia syndrome
Familial cancer of breast
not specified
Familial cancer of breast
Ataxia-telangiectasia syndrome
ATM-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA167269

rs_587782202

8 SubmittersRCV000130863 RCV000482134 RCV000627888 RCV004527323 RCV005229966 RCV005042266 RCV006554466

NM_000051.4(ATM):c.2921+1G>T

SNV
Germline

Chr11:108271147

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided
Malignant tumor of breast
Familial cancer of breast
Familial cancer of breast
Ataxia-telangiectasia syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA167275

rs_587781558

13 SubmittersRCV000130866 RCV000233536 RCV001571421 RCV003330505 RCV003462003 RCV005042267

NM_024675.4(PALB2):c.2947A>T (p.Thr983Ser)

SNV
Germline

Chr16:23623018

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided

Criteria Provided
Conflicting Classifications

CA167318

rs_587782211

5 SubmittersRCV000130889 RCV000206313 RCV000522868

NM_024675.4(PALB2):c.734C>T (p.Ala245Val)

SNV
Germline

Chr16:23635812

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
not specified
Breast-ovarian cancer, familial, susceptibility to, 5
Pancreatic cancer, susceptibility to, 3
Fanconi anemia complementation group N
Breast-ovarian cancer, familial, susceptibility to, 5
Uterine corpus endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA167345

rs_571063157

13 SubmittersRCV000130900 RCV000200032 RCV000483902 RCV001030168 RCV003315412 RCV005394483 RCV005886917

NM_024675.4(PALB2):c.3492G>T (p.Trp1164Cys)

SNV
Germline

Chr16:23603528

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA167348

rs_587782217

8 SubmittersRCV000130901 RCV000412141 RCV000487310 RCV004551258

NM_000051.4(ATM):c.5645G>A (p.Arg1882Gln)

SNV
Germline

Chr11:108304823

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA167411

rs_587782236

8 SubmittersRCV000130937 RCV000530461 RCV001260302 RCV003314563 RCV003467161

NM_032043.3(BRIP1):c.2863A>C (p.Asn955His)

SNV
Germline

Chr17:61685878

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA167441

rs_587782244

10 SubmittersRCV000130948 RCV000367894 RCV000464105 RCV001192822 RCV002254681 RCV004532567

NM_000465.4(BARD1):c.2192G>A (p.Arg731His)

SNV
Germline

Chr2:214728818

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA167457

rs_587782248

7 SubmittersRCV000130957 RCV000235487 RCV000543499

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_032043.3(BRIP1):c.1650T>G (p.Ile550Met)

SNV
Germline

Chr17:61780984

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA167467

rs_587782254

8 SubmittersRCV000130967 RCV000479209 RCV000636069 RCV003462006 RCV004528857 RCV003479016

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_000051.4(ATM):c.8560C>T (p.Arg2854Cys)

SNV
Germline/somatic

Chr11:108345884

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast
Condition: not provided
not specified
Carcinoma of colon
Papillary thyroid carcinoma
Breast and/or ovarian cancer
Familial cancer of breast
Ataxia-telangiectasia syndrome
ATM-related disorder
Neoplasm
Astrocytoma IDH-mutant

Criteria Provided
Conflicting Classifications

CA246481

rs_201958469

29 SubmittersRCV000131002 RCV000199741 RCV000585658 RCV000656765 RCV000779783 RCV001354297 RCV001357714 RCV001798447 RCV003483503 RCV004551260 RCV004668795 RCV004776277

NM_000465.4(BARD1):c.346C>T (p.His116Tyr)

SNV
Germline

Chr2:214792315

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
not specified
Malignant tumor of breast
BARD1-related disorder

Criteria Provided
Conflicting Classifications

CA294279

rs_144856889

13 SubmittersRCV000131018 RCV000205245 RCV000590105 RCV000855574 RCV001357830 RCV004739450

NM_000546.6(TP53):c.994-1G>A

SNV
Germline

Chr17:7670716

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1
Adrenocortical carcinoma, hereditary
Colon adenocarcinoma
Ovarian serous cystadenocarcinoma
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA000528

rs_587782272

8 SubmittersRCV000131124 RCV000786811 RCV001380070 RCV002288645 RCV003992194 RCV005886926 RCV005886927 RCV005886925

NM_000051.4(ATM):c.5973A>C (p.Glu1991Asp)

SNV
Germline

Chr11:108312465

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA167651

rs_587782274

6 SubmittersRCV000131129 RCV000484990 RCV001035231 RCV005359251

NM_000051.4(ATM):c.3994-2A>G

SNV
Germline

Chr11:108287598

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA167657

rs_587782276

9 SubmittersRCV000131133 RCV000198837 RCV001580458 RCV003155922

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_000465.4(BARD1):c.568G>A (p.Asp190Asn)

SNV
Germline

Chr2:214781306

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
not specified
Malignant tumor of breast
Breast and/or ovarian cancer

Criteria Provided
Conflicting Classifications

CA333240

rs_369561166

18 SubmittersRCV000131169 RCV000206249 RCV000586963 RCV001175546 RCV001355491 RCV003492614

NM_000051.4(ATM):c.9022C>T (p.Arg3008Cys)

SNV
Germline/somatic

Chr11:108365359

Likely pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided
Gastric cancer
Familial cancer of breast
Familial cancer of breast
Ataxia-telangiectasia syndrome
ATM-related cancer predisposition
Medulloblastoma WNT activated

Reviewed By Expert Panel

CA294307

rs_587782292

21 SubmittersRCV000131173 RCV000169274 RCV000212096 RCV003162585 RCV003474775 RCV005042268 RCV005001006 RCV006253816

NM_000051.4(ATM):c.4370T>G (p.Leu1457Ter)

SNV
Germline

Chr11:108289735

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA167716

rs_373226793

7 SubmittersRCV000131174 RCV000411522 RCV001560591 RCV003467163

NM_007194.4(CHEK2):c.428A>G (p.His143Arg)

SNV
Germline

Chr22:28725259

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
not specified
CHEK2-related disorder
Predisposition to cancer
Li-Fraumeni syndrome
Familial colorectal cancer type X

Criteria Provided
Conflicting Classifications

CA294315

rs_587782300

12 SubmittersRCV000131183 RCV000212416 RCV000233502 RCV001818320 RCV004532568 RCV005600731 RCV005359253

NM_007194.4(CHEK2):c.7C>T (p.Arg3Trp)

SNV
Germline

Chr22:28734715

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
not specified
Malignant tumor of breast
Breast and/or ovarian cancer
Hereditary cancer
CHEK2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA294322

rs_199708878

16 SubmittersRCV000131200 RCV000200637 RCV000588366 RCV001174557 RCV001357365 RCV001798448 RCV004700447 RCV005414462

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_000465.4(BARD1):c.308G>A (p.Ser103Asn)

SNV
Germline

Chr2:214792353

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
BARD1-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA294324

rs_145629242

13 SubmittersRCV000131209 RCV000200605 RCV000212110 RCV003407553 RCV006452442

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_000051.4(ATM):c.1855A>C (p.Asn619His)

SNV
Germline

Chr11:108252869

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided
not specified
Familial cancer of breast
ATM-related disorder

Criteria Provided
Conflicting Classifications

CA167802

rs_140882609

13 SubmittersRCV000131223 RCV000203692 RCV000587634 RCV001530924 RCV003467169 RCV004551262

NM_000465.4(BARD1):c.659T>C (p.Leu220Ser)

SNV
Germline

Chr2:214781215

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA333244

rs_138593305

17 SubmittersRCV000131224 RCV000205881 RCV000585398 RCV000855575 RCV001357448

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_007194.4(CHEK2):c.61C>A (p.Pro21Thr)

SNV
Germline

Chr22:28734661

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
CHEK2-related disorder

Criteria Provided
Conflicting Classifications

CA167812

rs_587782323

7 SubmittersRCV000131230 RCV000219060 RCV000461003 RCV004528858

NM_000465.4(BARD1):c.946T>G (p.Leu316Val)

SNV
Germline

Chr2:214780928

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided

Criteria Provided
Conflicting Classifications

CA167816

rs_587782325

8 SubmittersRCV000131232 RCV000525698 RCV001283885

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_000051.4(ATM):c.8558C>T (p.Thr2853Met)

SNV
Germline/somatic

Chr11:108345882

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided
Malignant tumor of breast
not specified
Familial cancer of breast
Ataxia-telangiectasia syndrome
Familial cancer of breast
Neoplasm
ATM-related disorder

Criteria Provided
Conflicting Classifications

CA294334

rs_141534716

16 SubmittersRCV000131262 RCV000203831 RCV000589725 RCV001356460 RCV002265616 RCV002483265 RCV003474776 RCV004668797 RCV004739452

NM_000051.4(ATM):c.3154-4G>A

SNV
Germline

Chr11:108272718

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Ataxia-telangiectasia syndrome
Malignant tumor of breast
Condition: not provided
Breast and/or ovarian cancer
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA294338

rs_199543313

19 SubmittersRCV000131267 RCV000211993 RCV001079697 RCV001358310 RCV002292436 RCV003149907 RCV003315904

NM_007194.4(CHEK2):c.931G>A (p.Asp311Asn)

SNV
Germline

Chr22:28699915

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
not specified
Bone osteosarcoma
Prostate cancer
Colorectal cancer
Familial cancer of breast
CHEK2-related cancer predisposition
Hereditary nonpolyposis colon cancer

Criteria Provided
Conflicting Classifications

CA294339

rs_587782347

16 SubmittersRCV000131287 RCV000212441 RCV000231753 RCV002271417 RCV002483267 RCV005365033

NM_004360.5(CDH1):c.1244T>C (p.Ile415Thr)

SNV
Germline

Chr16:68813419

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary diffuse gastric adenocarcinoma
Condition: not provided
not specified
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA168013

rs_587782372

7 SubmittersRCV000131355 RCV000462419 RCV000759725 RCV001251339 RCV004567133

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_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_024675.4(PALB2):c.2619T>G (p.Ser873Arg)

SNV
Germline

Chr16:23626365

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA168079

rs_587782387

13 SubmittersRCV000131395 RCV000199659 RCV000507756 RCV001281710 RCV001357530

NM_000465.4(BARD1):c.1835A>T (p.Asp612Val)

SNV
Germline

Chr2:214745135

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
not specified
Breast and/or ovarian cancer
Hereditary cancer

Criteria Provided
Conflicting Classifications

CA333248

rs_201140528

15 SubmittersRCV000131406 RCV000205160 RCV000590537 RCV001174675 RCV003492619 RCV004700450

NM_007194.4(CHEK2):c.663C>G (p.Ile221Met)

SNV
Germline

Chr22:28719415

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Predisposition to cancer
not specified
CHEK2-related disorder
Hereditary nonpolyposis colon cancer
CHEK2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA294367

rs_200451612

14 SubmittersRCV000131415 RCV000204676 RCV000588152 RCV001543106 RCV003330506 RCV004737224 RCV005359264 RCV005414464

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_000051.4(ATM):c.2476A>C (p.Ile826Leu)

SNV
Germline

Chr11:108267180

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA168126

rs_587782397

15 SubmittersRCV000131419 RCV000168043 RCV000484154 RCV000779790 RCV001762310 RCV005229968

NM_000051.4(ATM):c.1703G>A (p.Arg568Lys)

SNV
Germline

Chr11:108251932

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided
Familial cancer of breast
Breast and/or ovarian cancer

Criteria Provided
Conflicting Classifications

CA168134

rs_200381392

11 SubmittersRCV000131429 RCV000230854 RCV000679099 RCV003462014 RCV003492620

NM_007194.4(CHEK2):c.319+2T>A

SNV
Germline

Chr22:28734401

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Bone osteosarcoma
Familial cancer of breast
CHEK2-related cancer predisposition
Prostate cancer
Familial cancer of breast
Prostate cancer susceptibility
Breast cancer, susceptibility to
Malignant tumor of breast
CHEK2-related cancer predisposition

Criteria Provided
Multiple Submitters
No Conflicts

CA294375

rs_587782401

19 SubmittersRCV000131434 RCV000212411 RCV000515447 RCV000545158 RCV001258067 RCV003492621 RCV006554468

NM_000051.4(ATM):c.1110C>G (p.Tyr370Ter)

SNV
Germline

Chr11:108248977

Pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Ataxia-telangiectasia syndrome
Familial cancer of breast
Familial cancer of breast
Ataxia-telangiectasia syndrome
Familial colorectal cancer type X

Criteria Provided
Multiple Submitters
No Conflicts

CA168151

rs_376170600

13 SubmittersRCV000131436 RCV000236856 RCV000228285 RCV003467175 RCV005042271 RCV005359266

NM_000051.4(ATM):c.6976-2A>C

SNV
Germline

Chr11:108327643

Pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Ataxia-telangiectasia syndrome
Familial cancer of breast
ATM-related cancer predisposition

Reviewed By Expert Panel

CA294376

rs_587782403

9 SubmittersRCV000131437 RCV000212053 RCV000228133 RCV001171406 RCV005001007

NM_004360.5(CDH1):c.1501G>A (p.Val501Met)

SNV
Germline

Chr16:68815695

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary diffuse gastric adenocarcinoma
not specified
Condition: not provided
Endometrial carcinoma
Ovarian cancer
Blepharocheilodontic syndrome 1
Familial cancer of breast
Hereditary diffuse gastric adenocarcinoma
CDH1-related diffuse gastric and lobular breast cancer syndrome

Criteria Provided
Conflicting Classifications

CA168156

rs_368690400

15 SubmittersRCV000131439 RCV000167909 RCV000478959 RCV000585007 RCV005016449 RCV005365034

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_000465.4(BARD1):c.2104A>G (p.Ile702Val)

SNV
Germline

Chr2:214728906

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided

Criteria Provided
Conflicting Classifications

CA168186

rs_587782415

5 SubmittersRCV000131457 RCV001071201 RCV001775626

NM_007194.4(CHEK2):c.949A>G (p.Lys317Glu)

SNV
Germline

Chr22:28699897

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Breast and/or ovarian cancer

Criteria Provided
Conflicting Classifications

CA168192

rs_587782416

8 SubmittersRCV000131462 RCV000226721 RCV000486217 RCV001798451

NM_000051.4(ATM):c.8353G>A (p.Asp2785Asn)

SNV
Germline

Chr11:108343306

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA168194

rs_587782417

9 SubmittersRCV000131464 RCV000198515 RCV000479519 RCV002469022 RCV004567136

NM_032043.3(BRIP1):c.299T>C (p.Met100Thr)

SNV
Germline

Chr17:61857138

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group J
Familial cancer of breast
Familial ovarian cancer
Ovarian cancer
Fanconi anemia complementation group J

Criteria Provided
Conflicting Classifications

CA168226

rs_587782427

7 SubmittersRCV000131481 RCV000460063 RCV003315907 RCV005359270 RCV005430201

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_024675.4(PALB2):c.1258C>T (p.Gln420Ter)

SNV
Germline

Chr16:23635288

Pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA168278

rs_587782446

5 SubmittersRCV000131515 RCV000529684 RCV000657737

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_007194.4(CHEK2):c.904G>A (p.Glu302Lys)

SNV
Germline

Chr22:28703509

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
not specified
Predisposition to cancer

Criteria Provided
Conflicting Classifications

CA168331

rs_587782460

13 SubmittersRCV000131547 RCV000199375 RCV000759047 RCV001192412 RCV002292378

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_000051.4(ATM):c.1464G>T (p.Trp488Cys)

SNV
Germline

Chr11:108250929

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
Familial cancer of breast
ATM-related disorder

Criteria Provided
Conflicting Classifications

CA294394

rs_377597949

15 SubmittersRCV000131552 RCV000168391 RCV000235099 RCV000515383 RCV001199851 RCV001357286 RCV003462015 RCV004551263

NM_000465.4(BARD1):c.97G>C (p.Ala33Pro)

SNV
Germline

Chr2:214809473

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
not specified
BARD1-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA168351

rs_587782465

11 SubmittersRCV000131555 RCV000235721 RCV000461802 RCV001582606 RCV005600735

NM_004360.5(CDH1):c.2380G>A (p.Val794Ile)

SNV
Germline

Chr16:68829738

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary diffuse gastric adenocarcinoma
Condition: not provided
Malignant tumor of breast
Blepharocheilodontic syndrome 1
Endometrial carcinoma
Ovarian cancer
Familial cancer of breast
Hereditary diffuse gastric adenocarcinoma

Criteria Provided
Conflicting Classifications

CA168355

rs_587782466

11 SubmittersRCV000131558 RCV000205207 RCV000484196 RCV001354689 RCV005016451

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_000465.4(BARD1):c.2129A>T (p.Asp710Val)

SNV
Germline

Chr2:214728881

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
not specified
Condition: not provided
BARD1-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA168404

rs_150121935

11 SubmittersRCV000131586 RCV000198509 RCV000236887 RCV001857462 RCV005359273

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_000051.4(ATM):c.6718G>C (p.Asp2240His)

SNV
Germline

Chr11:108325455

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA168417

rs_587782478

7 SubmittersRCV000131592 RCV000692438 RCV001193604 RCV004567141 RCV006450022

NM_024675.4(PALB2):c.3320T>C (p.Leu1107Pro)

SNV
Germline

Chr16:23607894

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA168427

rs_149194681

13 SubmittersRCV000131597 RCV000204289 RCV000235261 RCV001818326 RCV003315413 RCV005394489

NM_024675.4(PALB2):c.10C>T (p.Pro4Ser)

SNV
Germline

Chr16:23641148

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided

Criteria Provided
Conflicting Classifications

CA294407

rs_587782483

8 SubmittersRCV000131600 RCV000205368 RCV004696852

NM_032043.3(BRIP1):c.1619A>T (p.Gln540Leu)

SNV
Germline

Chr17:61784279

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Fanconi anemia complementation group J
not specified
Familial cancer of breast
Ovarian cancer
Fanconi anemia complementation group J

Criteria Provided
Conflicting Classifications

CA168446

rs_4988349

14 SubmittersRCV000131607 RCV000222534 RCV000465039 RCV000781166 RCV002288649 RCV005430203

NM_007194.4(CHEK2):c.1510G>C (p.Glu504Gln)

SNV
Germline

Chr22:28689167

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Bone osteosarcoma
Familial cancer of breast
CHEK2-related cancer predisposition
Prostate cancer
not specified
Hereditary cancer
CHEK2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA168459

rs_587782489

13 SubmittersRCV000131614 RCV000198676 RCV000214263 RCV000764369 RCV001251282 RCV004700451 RCV005365035

NM_032043.3(BRIP1):c.485G>T (p.Arg162Leu)

SNV
Germline

Chr17:61849151

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group J
not specified
Condition: not provided
Familial cancer of breast
Ovarian cancer
Fanconi anemia complementation group J

Criteria Provided
Conflicting Classifications

CA168512

rs_61757643

8 SubmittersRCV000131634 RCV000231093 RCV001174711 RCV001559562 RCV003315913 RCV005430204

NM_000051.4(ATM):c.2804C>T (p.Thr935Met)

SNV
Germline

Chr11:108268575

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided
not specified
Familial pancreatic carcinoma
Familial cancer of breast
ATM-related disorder
Cancer or benign tumor

Criteria Provided
Conflicting Classifications

CA294422

rs_3218708

16 SubmittersRCV000131651 RCV000204695 RCV000211988 RCV000780917 RCV001358229 RCV002291569 RCV004739457 RCV005625310

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_032043.3(BRIP1):c.804T>G (p.Tyr268Ter)

SNV
Germline

Chr17:61808581

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA168563

rs_587782514

2 SubmittersRCV000131664 RCV003462019

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_000051.4(ATM):c.670A>G (p.Lys224Glu)

SNV
Germline

Chr11:108244795

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
not specified
Condition: not provided
Familial cancer of breast
ATM-related disorder

Criteria Provided
Conflicting Classifications

CA294425

rs_145053092

24 SubmittersRCV000131698 RCV000205199 RCV000211951 RCV000587384 RCV001257492 RCV004551265

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_032043.3(BRIP1):c.2542C>A (p.Arg848Ser)

SNV
Germline

Chr17:61693463

Likely pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Fanconi anemia complementation group J

Criteria Provided
Multiple Submitters
No Conflicts

CA294430

rs_45572934

3 SubmittersRCV000131711 RCV000212326 RCV001220332

NM_007194.4(CHEK2):c.1216C>T (p.Arg406Cys)

SNV
Germline

Chr22:28695753

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
Malignant tumor of breast
Breast and/or ovarian cancer
CHEK2-related disorder
CHEK2-related cancer predisposition
Predisposition to cancer

Criteria Provided
Conflicting Classifications

CA294433

rs_587782527

20 SubmittersRCV000131715 RCV000228975 RCV000515410 RCV000587346 RCV000855593 RCV001356488 RCV003492628 RCV004532574 RCV004776434 RCV005600739

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_000051.4(ATM):c.7381C>T (p.Arg2461Cys)

SNV
Germline

Chr11:108330287

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided
Familial cancer of breast
Ataxia-telangiectasia syndrome
not specified
Ataxia-telangiectasia syndrome
Malignant tumor of breast
Familial cancer of breast
ATM-related disorder

Criteria Provided
Conflicting Classifications

CA294439

rs_201314561

20 SubmittersRCV000131731 RCV000206694 RCV000212067 RCV000764944 RCV001375519 RCV001535788 RCV003462021 RCV004551267

NM_032043.3(BRIP1):c.2576-1G>A

SNV
Germline

Chr17:61686166

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group J
Familial cancer of breast
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA168685

rs_587782539

5 SubmittersRCV000131744 RCV000763016 RCV003335125

NM_007194.4(CHEK2):c.1526C>T (p.Pro509Leu)

SNV
Germline

Chr22:28689151

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
not specified
CHEK2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA294442

rs_587782541

10 SubmittersRCV000131748 RCV000212473 RCV000469852 RCV003155082 RCV005365036

NM_032043.3(BRIP1):c.2380-3T>A

SNV
Germline

Chr17:61716066

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA168696

rs_587782542

2 SubmittersRCV000131750 RCV000701258

NM_004360.5(CDH1):c.2387G>A (p.Arg796Gln)

SNV
Germline

Chr16:68829745

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary diffuse gastric adenocarcinoma
Condition: not provided
not specified
Ovarian cancer
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA168715

rs_587782549

13 SubmittersRCV000131762 RCV000228473 RCV000587217 RCV002271418 RCV005359281

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_000465.4(BARD1):c.2075T>C (p.Ile692Thr)

SNV
Germline

Chr2:214728935

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
not specified
BARD1-related disorder

Criteria Provided
Conflicting Classifications

CA333275

rs_587782555

9 SubmittersRCV000131771 RCV000206765 RCV000521519 RCV003493459 RCV004739458

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_032043.3(BRIP1):c.2377C>T (p.Gln793Ter)

SNV
Germline

Chr17:61743015

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Fanconi anemia complementation group J
Familial cancer of breast
Ovarian cancer
Fanconi anemia complementation group J

Criteria Provided
Multiple Submitters
No Conflicts

CA168781

rs_587782574

7 SubmittersRCV000131801 RCV000519624 RCV000703456 RCV003315916 RCV005430205

NM_007194.4(CHEK2):c.1462-2A>G

SNV
Germline

Chr22:28689217

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA168786

rs_587782575

7 SubmittersRCV000131803 RCV000555386 RCV003884358

NM_024675.4(PALB2):c.2557G>A (p.Gly853Ser)

SNV
Germline

Chr16:23629233

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
not specified
Familial cancer of breast
Fanconi anemia complementation group N
Pancreatic cancer, susceptibility to, 3

Criteria Provided
Conflicting Classifications

CA168790

rs_587782579

10 SubmittersRCV000131807 RCV000230627 RCV000483722 RCV001800443 RCV002478401

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_000546.6(TP53):c.541C>T (p.Arg181Cys)

SNV
Germline/somatic

Chr17:7675071

Likely pathogenic

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Condition: not provided
Adrenocortical carcinoma, hereditary
Familial cancer of breast
Colorectal cancer
Neoplasm
Li-Fraumeni syndrome 1

Reviewed By Expert Panel

CA000257

rs_587782596

12 SubmittersRCV000131943 RCV000168292 RCV000236276 RCV003474780 RCV004544301 RCV006253818 RCV005229969 RCV006633898

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_004360.5(CDH1):c.2600A>G (p.Asn867Ser)

SNV
Germline

Chr16:68833450

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Hereditary diffuse gastric adenocarcinoma
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA169060

rs_587782623

7 SubmittersRCV000132006 RCV000482832 RCV000766437 RCV001070946 RCV003462025

NM_000051.4(ATM):c.8147T>C (p.Val2716Ala)

SNV
Germline

Chr11:108335105

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided
Familial cancer of breast
Breast carcinoma
Familial cancer of breast
Ataxia-telangiectasia syndrome
Uterine corpus cancer
Tip-toe gait
Breast and/or ovarian cancer
ATM-related disorder
ATM-related cancer predisposition

Criteria Provided
Multiple Submitters
No Conflicts

CA294465

rs_587782652

49 SubmittersRCV000132066 RCV000169105 RCV000212079 RCV000709709 RCV001640164 RCV002285144 RCV003128150 RCV003318553 RCV003492629 RCV004551268 RCV006554469

NM_024675.4(PALB2):c.740C>G (p.Thr247Arg)

SNV
Germline

Chr16:23635806

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided

Criteria Provided
Conflicting Classifications

CA169202

rs_587782658

9 SubmittersRCV000132073 RCV000211087 RCV000588870

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_032043.3(BRIP1):c.2902A>G (p.Lys968Glu)

SNV
Germline

Chr17:61685839

Conflicting classifications of pathogenicity

Familial cancer of breast
Fanconi anemia complementation group J
Familial cancer of breast
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA294472

rs_587782679

7 SubmittersRCV000470512 RCV000989989 RCV006259055 RCV000132105

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_024675.4(PALB2):c.2608G>A (p.Val870Ile)

SNV
Germline

Chr16:23626376

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Familial cancer of breast
Condition: not provided

Criteria Provided
Conflicting Classifications

CA294480

rs_376641234

12 SubmittersRCV000132122 RCV000212815 RCV000227189 RCV000656937

NM_000051.4(ATM):c.7559T>G (p.Met2520Arg)

SNV
Germline

Chr11:108331487

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA169309

rs_587782692

5 SubmittersRCV000132126 RCV000522314 RCV000627852 RCV004589632

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_000546.6(TP53):c.455C>T (p.Pro152Leu)

SNV
Germline/somatic

Chr17:7675157

Pathogenic

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Condition: not provided
Li-Fraumeni syndrome 1
Familial cancer of breast
Squamous cell carcinoma of the head and neck
Lip and oral cavity carcinoma
Adrenocortical carcinoma, hereditary
Neoplasm
TP53-related disorder
Diffuse glioma, H3 G34 mutant

Reviewed By Expert Panel

CA000204

rs_587782705

21 SubmittersRCV000132156 RCV000168122 RCV000583667 RCV000677669 RCV000755703 RCV001270267 RCV001255632 RCV003462034 RCV004668801 RCV004797600 RCV006253820

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_004360.5(CDH1):c.1351A>C (p.Ile451Leu)

SNV
Germline

Chr16:68815545

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary diffuse gastric adenocarcinoma
Condition: not provided
not specified
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA294502

rs_377416092

10 SubmittersRCV000132204 RCV000475311 RCV000586976 RCV001818330 RCV003462038

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_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.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_004360.5(CDH1):c.794A>T (p.Glu265Val)

SNV
Germline

Chr16:68810303

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary diffuse gastric adenocarcinoma
Familial cancer of breast
Familial cancer of breast
Hereditary diffuse gastric adenocarcinoma

Criteria Provided
Conflicting Classifications

CA294505

rs_587782728

7 SubmittersRCV000132223 RCV000212356 RCV000230097 RCV004567152 RCV005416268

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_032043.3(BRIP1):c.326A>G (p.Asn109Ser)

SNV
Germline

Chr17:61857111

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA169463

rs_587782734

11 SubmittersRCV000132232 RCV000213770 RCV000687515 RCV000990039 RCV002267884 RCV004532579

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_024675.4(PALB2):c.2401G>A (p.Asp801Asn)

SNV
Germline

Chr16:23629753

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
See cases

Criteria Provided
Conflicting Classifications

CA169572

rs_587782765

8 SubmittersRCV000132292 RCV000167989 RCV001570317 RCV002251997

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_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_032043.3(BRIP1):c.3064G>A (p.Glu1022Lys)

SNV
Germline

Chr17:61683982

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group J
Familial cancer of breast
Malignant tumor of breast
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA169715

rs_587782808

6 SubmittersRCV000132368 RCV000461152 RCV001357266 RCV001775628 RCV006273558

NM_000465.4(BARD1):c.119C>T (p.Ala40Val)

SNV
Germline

Chr2:214809451

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA333289

rs_71579841

11 SubmittersRCV000132381 RCV000198072 RCV000480381 RCV001264532

NM_000051.4(ATM):c.94C>T (p.Arg32Cys)

SNV
Germline

Chr11:108227797

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Ataxia-telangiectasia syndrome
Familial cancer of breast
Malignant tumor of breast
not specified

Criteria Provided
Conflicting Classifications

CA169733

rs_148061139

10 SubmittersRCV000132385 RCV000236602 RCV000233534 RCV001197402 RCV001355326 RCV002465534

NM_004360.5(CDH1):c.2318A>G (p.His773Arg)

SNV
Germline

Chr16:68829676

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary diffuse gastric adenocarcinoma
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA294526

rs_587782823

7 SubmittersRCV000132399 RCV000212384 RCV000459654 RCV003462044

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_000465.4(BARD1):c.581G>A (p.Arg194Lys)

SNV
Germline

Chr2:214781293

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
not specified
BARD1-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA169829

rs_181748854

10 SubmittersRCV000132426 RCV000230484 RCV000485505 RCV001174906 RCV005600745

NM_007194.4(CHEK2):c.1096-4T>C

SNV
Germline

Chr22:28695877

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA169835

rs_587782840

8 SubmittersRCV000132429 RCV000412166 RCV000590391 RCV005406842

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_024675.4(PALB2):c.2852C>T (p.Ser951Phe)

SNV
Germline

Chr16:23623113

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA170010

rs_587782889

6 SubmittersRCV000132527 RCV000535908 RCV000590893 RCV006259057

NM_000051.4(ATM):c.4477C>T (p.Leu1493Phe)

SNV
Germline

Chr11:108292659

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA170018

rs_377595814

11 SubmittersRCV000132531 RCV000232961 RCV000479110 RCV001192364 RCV002478404 RCV003467199

NM_000051.4(ATM):c.4921G>C (p.Asp1641His)

SNV
Germline

Chr11:108297298

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA170032

rs_587782896

9 SubmittersRCV000132535 RCV000225809 RCV000478375 RCV003474793 RCV005237576

NM_024675.4(PALB2):c.995T>A (p.Leu332His)

SNV
Germline

Chr16:23635551

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA170038

rs_377149139

14 SubmittersRCV000132538 RCV000199494 RCV000589127 RCV001354291

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.1108C>T (p.Gln370Ter)

SNV
Germline

Chr16:23635438

Pathogenic

Condition: not provided
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA294547

rs_587776411

8 SubmittersRCV000133472 RCV001030200 RCV001525190

NM_024675.4(PALB2):c.1571C>G (p.Ser524Ter)

SNV
Germline

Chr16:23634975

Pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA294552

rs_587776413

8 SubmittersRCV000133475 RCV000454158 RCV000701075

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.2834+1G>T

SNV
Germline

Chr16:23624008

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA294560

rs_587776419

9 SubmittersRCV000133481 RCV000411304 RCV000567638 RCV000763377

NM_024675.4(PALB2):c.3201+1G>C

SNV
Germline

Chr16:23614003

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA191641

rs_587776423

10 SubmittersRCV000133485 RCV000164723 RCV000230297

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_024675.4(PALB2):c.48G>A (p.Lys16=)

SNV
Germline

Chr16:23641110

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group N
Pancreatic cancer, susceptibility to, 3
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA294568

rs_587776405

8 SubmittersRCV000133492 RCV000566830 RCV001030105 RCV004796039

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.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.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_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_004360.5(CDH1):c.1137G>A (p.Thr379=)

SNV
Germline

Chr16:68812263

Pathogenic

Hereditary diffuse gastric adenocarcinoma
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
CDH1-related diffuse gastric and lobular breast cancer syndrome
Diffuse gastric and lobular breast cancer syndrome with cleft lip and with or without cleft palate
Ovarian cancer
Familial cancer of breast

Reviewed By Expert Panel

CA186229

rs_587783050

19 SubmittersRCV000144593 RCV000162417 RCV000520174 RCV002467442 RCV003328240 RCV004579539 RCV005359309

NM_002354.3(EPCAM):c.556-14A>G

SNV
Germline

Chr2:47378939

Pathogenic/Likely pathogenic

Congenital diarrhea 5 with tufting enteropathy
Congenital diarrhea 5 with tufting enteropathy
Lynch syndrome 8
EPCAM-related disorder
Condition: not provided
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA171016

rs_376155665

16 SubmittersRCV000144936 RCV000763487 RCV004751287 RCV003654209 RCV005359310

NM_018136.5(ASPM):c.10331+5G>A

SNV
Germline

Chr1:197086798

Conflicting classifications of pathogenicity

Microcephaly 5, primary, autosomal recessive
Condition: not provided
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA270995

rs_368843607

4 SubmittersRCV000145075 RCV001560972 RCV005887025

NM_018136.5(ASPM):c.3599-4A>G

SNV
Germline

Chr1:197122305

Conflicting classifications of pathogenicity

Microcephaly 5, primary, autosomal recessive
not specified
Condition: not provided
ASPM-related disorder
Clear cell carcinoma of kidney
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA271028

rs_149303254

7 SubmittersRCV000145114 RCV000214044 RCV000961914 RCV003945162 RCV005887028 RCV005887027

NM_003392.7(WNT5A):c.141-8C>G

SNV
Germline

Chr3:55479572

Conflicting classifications of pathogenicity

Autosomal dominant Robinow syndrome 1
Condition: not provided
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA272814

rs_188798140

3 SubmittersRCV000147983 RCV000924585 RCV005888283

NM_000059.4(BRCA2):c.3280A>T (p.Lys1094Ter)

SNV
Germline

Chr13:32337635

Pathogenic

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

Reviewed By Expert Panel

CA017703

rs_690016539

2 SubmittersRCV000149512 RCV000241256

NM_000426.4(LAMA2):c.9211+6T>C

SNV
Germline

Chr6:129514601

Conflicting classifications of pathogenicity

not specified
Merosin deficient congenital muscular dystrophy
Condition: not provided
LAMA2-related muscular dystrophy
Congenital muscular dystrophy due to partial LAMA2 deficiency
Merosin deficient congenital muscular dystrophy
Muscular dystrophy, limb-girdle, autosomal recessive 23
Inborn genetic diseases
Familial cancer of breast
Ovarian cancer
Cervical cancer

Criteria Provided
Conflicting Classifications

CA246937

rs_201375881

15 SubmittersRCV000253869 RCV000515327 RCV000723450 RCV001084465 RCV001154395 RCV001810426 RCV002514873 RCV005888294 RCV005888296 RCV005888295

NM_000492.4(CFTR):c.1210-11T>G

SNV
Germline

Chr7:117548630

Pathogenic/Likely pathogenic; other

Cystic fibrosis
Congenital bilateral aplasia of vas deferens from CFTR mutation
Cystic fibrosis
Condition: not provided
Congenital bilateral aplasia of vas deferens from CFTR mutation
Uterine corpus endometrial carcinoma
Familial pancreatic carcinoma
Malignant lymphoma, large B-cell, diffuse
Sarcoma
Malignant tumor of esophagus
Bronchiectasis with or without elevated sweat chloride 1
Cystic fibrosis
Congenital bilateral aplasia of vas deferens from CFTR mutation
Bronchiectasis with or without elevated sweat chloride 1
Hereditary pancreatitis
Cystic fibrosis
Congenital bilateral aplasia of vas deferens from CFTR mutation
Lung cancer
Cervical cancer
Familial cancer of breast
Cholangiocarcinoma
Nonpapillary renal cell carcinoma

Criteria Provided
Multiple Submitters
No Conflicts

CA273555

rs_73715573

24 SubmittersRCV000155471 RCV000309488 RCV000381834 RCV001329936 RCV005888517 RCV005888512 RCV005888513 RCV005888514 RCV005888509 RCV005359333 RCV005431500 RCV005888516 RCV005888511 RCV005888508 RCV005888515 RCV005888510

NM_004415.4(DSP):c.273+5G>A

SNV
Germline

Chr6:7555825

Conflicting classifications of pathogenicity

not specified
Primary dilated cardiomyopathy
Long QT syndrome
Primary dilated cardiomyopathy
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic right ventricular cardiomyopathy
Condition: not provided
Cardiomyopathy
Arrhythmogenic right ventricular dysplasia 8
Lethal acantholytic epidermolysis bullosa
Woolly hair-skin fragility syndrome
Cardiovascular phenotype
6 conditions
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Cervical cancer
Familial cancer of breast
Colon adenocarcinoma

Criteria Provided
Conflicting Classifications

CA005542

rs_200473206

19 SubmittersRCV000150557 RCV000157211 RCV000157212 RCV000232421 RCV000239152 RCV000589518 RCV000776291 RCV001160815 RCV001162435 RCV001162436 RCV002433645 RCV002492553 RCV003989330 RCV005888324 RCV005888322 RCV005888323

NM_004817.4(TJP2):c.61-6A>T

SNV
Germline

Chr9:69212542

Conflicting classifications of pathogenicity

not specified
Condition: not provided
TJP2-related disorder
Familial cancer of breast
Clear cell carcinoma of kidney
Gastric cancer

Criteria Provided
Conflicting Classifications

CA178160

rs_200415824

8 SubmittersRCV000152017 RCV000907762 RCV003917482 RCV005888366 RCV005888367 RCV005888368

NM_000260.4(MYO7A):c.6363G>A (p.Thr2121=)

SNV
Germline

Chr11:77212960

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal dominant nonsyndromic hearing loss 11
Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1
MYO7A-related disorder
Lung cancer
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA182434

rs_367738288

7 SubmittersRCV000155241 RCV000842733 RCV001111950 RCV001111952 RCV001111951 RCV004544434 RCV005888501 RCV005888500

NM_004369.4(COL6A3):c.6751C>T (p.Arg2251Trp)

SNV
Germline

Chr2:237352524

Conflicting classifications of pathogenicity

not specified
Collagen 6-related myopathy
Bethlem myopathy 1A
Condition: not provided
Inborn genetic diseases
Familial cancer of breast
Thyroid cancer, nonmedullary, 1

Criteria Provided
Conflicting Classifications

CA233825

rs_116690555

9 SubmittersRCV000248266 RCV000354274 RCV000653606 RCV001706017 RCV002514950 RCV005888409 RCV005888410

NM_000465.4(BARD1):c.2248G>A (p.Val750Ile)

SNV
Germline

Chr2:214728762

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA298482

rs_34677017

6 SubmittersRCV000220702 RCV000586005 RCV000800753

NM_000465.4(BARD1):c.2179G>A (p.Asp727Asn)

SNV
Germline

Chr2:214728831

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided

Criteria Provided
Conflicting Classifications

CA298480

rs_730881424

8 SubmittersRCV000570038 RCV000635642 RCV000679340

NM_000465.4(BARD1):c.1996C>T (p.Gln666Ter)

SNV
Germline

Chr2:214730416

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA298474

rs_730881422

8 SubmittersRCV000159820 RCV000222541 RCV000225939

NM_000465.4(BARD1):c.1808C>A (p.Thr603Lys)

SNV
Germline

Chr2:214745724

Conflicting classifications of pathogenicity

Condition: not provided
Familial cancer of breast
Hereditary cancer-predisposing syndrome
not specified

Criteria Provided
Conflicting Classifications

CA298472

rs_730881421

8 SubmittersRCV000159819 RCV000474889 RCV000564659 RCV002229764

NM_000465.4(BARD1):c.1360C>G (p.Pro454Ala)

SNV
Germline

Chr2:214769267

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
not specified

Criteria Provided
Conflicting Classifications

CA298438

rs_730881408

10 SubmittersRCV000159802 RCV000212129 RCV000234332 RCV003114308

NM_000465.4(BARD1):c.1347A>G (p.Gln449=)

SNV
Germline

Chr2:214769280

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
not specified
Triple-Negative Breast Cancer Finding
Condition: not provided
Familial ovarian cancer
Breast and/or ovarian cancer
BARD1-related disorder

Criteria Provided
Conflicting Classifications

CA298431

rs_373257776

16 SubmittersRCV000159796 RCV000199945 RCV000212128 RCV000678224 RCV000858081 RCV001355909 RCV003492642 RCV003398822

NM_000465.4(BARD1):c.1339C>G (p.Leu447Val)

SNV
Germline

Chr2:214769288

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Familial cancer of breast
Condition: not provided
BARD1-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA298464

rs_376727038

17 SubmittersRCV000159815 RCV000212127 RCV000230416 RCV000656772 RCV005359347

NM_000465.4(BARD1):c.1109G>A (p.Arg370His)

SNV
Germline

Chr2:214780765

Conflicting classifications of pathogenicity

Condition: not provided
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA298460

rs_730881416

5 SubmittersRCV000159813 RCV000700132 RCV001017347

NM_000465.4(BARD1):c.1016G>A (p.Ser339Asn)

SNV
Germline

Chr2:214780858

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast
not specified
Breast and/or ovarian cancer
BARD1-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA298458

rs_201261729

13 SubmittersRCV000159812 RCV000216014 RCV000524916 RCV000780951 RCV003492644 RCV005359345

NM_000465.4(BARD1):c.783A>G (p.Leu261=)

SNV
Germline

Chr2:214781091

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Breast and/or ovarian cancer
Condition: not provided
Hepatocellular carcinoma

Criteria Provided
Conflicting Classifications

CA298429

rs_201862973

13 SubmittersRCV000159795 RCV000219687 RCV000476533 RCV003492641 RCV003477571 RCV005888569

NM_000465.4(BARD1):c.607G>T (p.Gly203Ter)

SNV
Germline

Chr2:214781267

Pathogenic

Condition: not provided
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA298456

rs_730881415

2 SubmittersRCV000159811 RCV001850251

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_000465.4(BARD1):c.215+12C>T

SNV
Germline

Chr2:214797049

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Breast and/or ovarian cancer

Criteria Provided
Conflicting Classifications

CA298428

rs_373816832

6 SubmittersRCV000159792 RCV000580823 RCV002053915 RCV003492640

NM_000251.3(MSH2):c.1276+11A>G

SNV
Germline

Chr2:47429952

Conflicting classifications of pathogenicity

not specified
Lynch syndrome 1
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA017737

rs_189015988

7 SubmittersRCV000160644 RCV000410246 RCV000580774 RCV002053928 RCV005359373

NM_000051.4(ATM):c.1A>G (p.Met1Val)

SNV
Germline

Chr11:108227625

Pathogenic/Likely pathogenic

Ataxia-telangiectasia syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Familial pancreatic carcinoma
Familial cancer of breast
Familial cancer of breast
Ataxia-telangiectasia syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA298204

rs_730881359

10 SubmittersRCV000258119 RCV001093019 RCV001175687 RCV001355020 RCV003137690 RCV005049437

NM_000051.4(ATM):c.95G>A (p.Arg32His)

SNV
Germline

Chr11:108227798

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA298213

rs_368161489

10 SubmittersRCV000459267 RCV000562263 RCV001721017 RCV002288671 RCV005237593

NM_000051.4(ATM):c.154G>T (p.Gly52Ter)

SNV
Germline

Chr11:108227857

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA298216

rs_730881362

4 SubmittersRCV000159713 RCV002399581 RCV003462073

NM_000051.4(ATM):c.283C>A (p.Gln95Lys)

SNV
Germline

Chr11:108229275

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA298245

rs_587781545

10 SubmittersRCV000159724 RCV000229615 RCV000445811 RCV000764933 RCV001175058

NM_000051.4(ATM):c.518G>T (p.Arg173Met)

SNV
Germline

Chr11:108243974

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA298111

rs_372694758

9 SubmittersRCV000456186 RCV000575164 RCV000991561 RCV002281972 RCV005042311

NM_000051.4(ATM):c.538C>T (p.Gln180Ter)

SNV
Germline

Chr11:108243994

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA298114

rs_730881333

10 SubmittersRCV000505724 RCV000531127 RCV001024018 RCV004019935 RCV005055644

NM_000051.4(ATM):c.742C>T (p.Arg248Ter)

SNV
Germline

Chr11:108244867

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA298123

rs_730881336

15 SubmittersRCV000159678 RCV000211945 RCV000410046 RCV000515228 RCV000709708 RCV003162669

NM_000051.4(ATM):c.1080T>G (p.Asp360Glu)

SNV
Germline

Chr11:108248947

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA298135

rs_199869975

7 SubmittersRCV000159682 RCV000565732 RCV000696558 RCV002243828

NM_000051.4(ATM):c.1727T>C (p.Ile576Thr)

SNV
Germline

Chr11:108251956

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided
not specified
Familial cancer of breast
ATM-related disorder

Criteria Provided
Conflicting Classifications

CA298144

rs_730881342

13 SubmittersRCV000159685 RCV000196810 RCV000590025 RCV003230420 RCV003462071 RCV004739497

NM_000051.4(ATM):c.1748A>G (p.Tyr583Cys)

SNV
Germline

Chr11:108251977

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA298336

rs_587780614

13 SubmittersRCV000228653 RCV000218850 RCV000590682 RCV003467239

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.2192A>T (p.Tyr731Phe)

SNV
Germline

Chr11:108256282

Conflicting classifications of pathogenicity

Condition: not provided
Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Endometrial carcinoma
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA298159

rs_730881345

7 SubmittersRCV000159690 RCV000462835 RCV000568629 RCV001355000 RCV003467226

NM_000051.4(ATM):c.2251-10T>G

SNV
Germline

Chr11:108257471

Pathogenic/Likely pathogenic

Condition: not provided
Ataxia-telangiectasia syndrome
Familial cancer of breast
Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast
ATM-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA298162

rs_730881346

15 SubmittersRCV000159691 RCV000161929 RCV000515310 RCV000580644 RCV001253609 RCV004739498

NM_000051.4(ATM):c.2346A>G (p.Leu782=)

SNV
Germline

Chr11:108257576

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Ataxia-telangiectasia syndrome
Breast and/or ovarian cancer
Familial cancer of breast
ATM-related disorder

Criteria Provided
Conflicting Classifications

CA297990

rs_730881285

14 SubmittersRCV000159608 RCV000211981 RCV000727061 RCV001085827 RCV001798540 RCV004589660 RCV004551367

NM_000051.4(ATM):c.2598T>G (p.Val866=)

SNV
Germline

Chr11:108267302

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA298179

rs_730881350

6 SubmittersRCV000159699 RCV000562239 RCV001078605 RCV001199919 RCV004589671

NM_000051.4(ATM):c.2635A>G (p.Ile879Val)

SNV
Germline

Chr11:108267339

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA298339

rs_556598169

8 SubmittersRCV000159759 RCV000469928 RCV000568728 RCV003235076 RCV005042315 RCV005359343

NM_000051.4(ATM):c.2735A>G (p.Gln912Arg)

SNV
Germline

Chr11:108268506

Conflicting classifications of pathogenicity

not specified
Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary cancer
ATM-related disorder
Familial cancer of breast
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

CA298188

rs_730881353

10 SubmittersRCV000159702 RCV000474750 RCV000567796 RCV001711426 RCV003492638 RCV004551372 RCV005863008

NM_000051.4(ATM):c.3049C>T (p.Gln1017Ter)

SNV
Germline

Chr11:108271378

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Ataxia-telangiectasia syndrome
Ataxia-telangiectasia syndrome
Breast cancer, susceptibility to
Familial cancer of breast
Familial cancer of breast
Ataxia-telangiectasia syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA298345

rs_730881388

11 SubmittersRCV000159761 RCV000211992 RCV000457084 RCV001258064 RCV003467240 RCV005042316

NM_000051.4(ATM):c.3085A>T (p.Thr1029Ser)

SNV
Germline

Chr11:108272539

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA298194

rs_730881355

6 SubmittersRCV000159705 RCV000234598 RCV001180649 RCV004567191

NM_000051.4(ATM):c.3154-2A>G

SNV
Germline

Chr11:108272720

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA298200

rs_730881357

12 SubmittersRCV000159707 RCV000206276 RCV000211994 RCV003128229 RCV003467229

NM_000051.4(ATM):c.3299C>T (p.Thr1100Met)

SNV
Germline

Chr11:108279505

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA298348

rs_189445371

10 SubmittersRCV000159762 RCV000215728 RCV000559406 RCV003467241

NM_000051.4(ATM):c.3304G>T (p.Gly1102Ter)

SNV
Germline

Chr11:108279510

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA298219

rs_147557621

4 SubmittersRCV000159714 RCV000213174 RCV001388988 RCV004019936

NM_000051.4(ATM):c.3352A>G (p.Thr1118Ala)

SNV
Germline

Chr11:108279558

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Ataxia-telangiectasia syndrome
not specified
Familial cancer of breast
Familial colorectal cancer type X

Criteria Provided
Conflicting Classifications

CA298222

rs_572564322

11 SubmittersRCV000159715 RCV000211998 RCV000335065 RCV003226222 RCV004589672 RCV005359338

NM_000051.4(ATM):c.3747-1G>C

SNV
Germline

Chr11:108284226

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA298228

rs_730881364

6 SubmittersRCV000159717 RCV000494137 RCV001215130 RCV004019938

NM_000051.4(ATM):c.3848T>C (p.Leu1283Pro)

SNV
Germline

Chr11:108284328

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Malignant tumor of breast
Familial cancer of breast
Condition: not provided
Familial cancer of breast
Ataxia-telangiectasia syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA298351

rs_730881389

10 SubmittersRCV000159763 RCV000474326 RCV001290629 RCV002466454 RCV003225035 RCV005042317

NM_000051.4(ATM):c.3899A>G (p.Tyr1300Cys)

SNV
Germline

Chr11:108284379

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA298232

rs_183263185

14 SubmittersRCV000159719 RCV000212005 RCV000398586 RCV002288672 RCV002281973 RCV005042313

NM_000051.4(ATM):c.3961A>G (p.Met1321Val)

SNV
Germline

Chr11:108284441

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Malignant tumor of breast
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA298235

rs_730881366

8 SubmittersRCV000159720 RCV000573270 RCV000703729 RCV001357834 RCV004567192

NM_000051.4(ATM):c.4394T>C (p.Leu1465Pro)

SNV
Germline

Chr11:108289759

Likely pathogenic

Condition: not provided
Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast
ATM-related cancer predisposition

Reviewed By Expert Panel

CA298357

rs_730881391

9 SubmittersRCV000159765 RCV000206187 RCV000220574 RCV003467242 RCV005638452

NM_000051.4(ATM):c.4396C>G (p.Arg1466Gly)

SNV
Germline

Chr11:108289761

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided
Familial cancer of breast
Familial colorectal cancer type X

Criteria Provided
Conflicting Classifications

CA298242

rs_730881369

8 SubmittersRCV000159723 RCV000197917 RCV000212014 RCV003467230 RCV005359339

NM_000051.4(ATM):c.4466G>A (p.Arg1489His)

SNV
Germline

Chr11:108292648

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA298251

rs_201594549

9 SubmittersRCV000159726 RCV000217727 RCV000467957 RCV003467232

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.4768C>T (p.Leu1590Phe)

SNV
Germline

Chr11:108293469

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
not specified

Criteria Provided
Conflicting Classifications

CA298257

rs_35962982

17 SubmittersRCV000159728 RCV000196470 RCV000515177 RCV000589456 RCV001257475 RCV003321521

NM_000051.4(ATM):c.4856G>A (p.Arg1619Lys)

SNV
Germline

Chr11:108295006

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
not specified
Familial cancer of breast
ATM-related disorder

Criteria Provided
Conflicting Classifications

CA298362

rs_730881393

11 SubmittersRCV000159767 RCV000213785 RCV000539303 RCV001194329 RCV004567195 RCV004739502

NM_000051.4(ATM):c.5630T>C (p.Phe1877Ser)

SNV
Germline

Chr11:108304808

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Malignant tumor of breast
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA298278

rs_202028401

7 SubmittersRCV000159735 RCV000567744 RCV000472045 RCV001357645 RCV003338433

NM_000051.4(ATM):c.5825C>T (p.Ala1942Val)

SNV
Germline

Chr11:108310222

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA298365

rs_730881394

8 SubmittersRCV000159768 RCV000218056 RCV000463126 RCV003462077

NM_000051.4(ATM):c.5890A>T (p.Lys1964Ter)

SNV
Germline

Chr11:108310287

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA298368

rs_201963507

8 SubmittersRCV000159769 RCV000206728 RCV000570753 RCV003467244

NM_000051.4(ATM):c.6095G>A (p.Arg2032Lys)

SNV
Germline

Chr11:108315911

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided
Familial cancer of breast
Ataxia-telangiectasia syndrome
Familial cancer of breast
Carcinoma of pancreas
Adenocarcinoma
Breast carcinoma
Gastric cancer
ATM-related cancer predisposition
ATM-related disorder
Inherited breast cancer and ovarian cancer
Melanoma

Criteria Provided
Multiple Submitters
No Conflicts

CA298296

rs_139770721

30 SubmittersRCV000159742 RCV000167946 RCV000212037 RCV000762824 RCV000709711 RCV001391204 RCV001706063 RCV001657897 RCV003162671 RCV005359341 RCV004551374 RCV006276074 RCV005888568

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_000051.4(ATM):c.6257A>T (p.Tyr2086Phe)

SNV
Germline

Chr11:108317431

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA298305

rs_730881380

11 SubmittersRCV000159745 RCV000231734 RCV000568069 RCV001731490 RCV002288674

NM_000051.4(ATM):c.6604T>G (p.Tyr2202Asp)

SNV
Germline

Chr11:108325341

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
not specified
Familial cancer of breast
Ataxia-telangiectasia syndrome
Condition: not provided
Breast and/or ovarian cancer
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA298028

rs_730881311

15 SubmittersRCV000159641 RCV000199822 RCV000212047 RCV000764938 RCV000766519 RCV001798542 RCV003462068

NM_000051.4(ATM):c.6679C>T (p.Arg2227Cys)

SNV
Germline/somatic

Chr11:108325416

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided
Familial cancer of breast
Ataxia-telangiectasia syndrome
Malignant tumor of breast
Familial cancer of breast
Neoplasm

Criteria Provided
Multiple Submitters
No Conflicts

CA298317

rs_564652222

26 SubmittersRCV000159749 RCV000196419 RCV000212048 RCV000762827 RCV001255479 RCV002288675 RCV005229997

NM_000051.4(ATM):c.6823A>G (p.Ile2275Val)

SNV
Germline

Chr11:108326073

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
ATM-related disorder

Criteria Provided
Conflicting Classifications

CA298040

rs_587779857

9 SubmittersRCV000219191 RCV000456777 RCV000589270 RCV002484994 RCV003226221 RCV003467220 RCV004724945

NM_000051.4(ATM):c.7307+4A>G

SNV
Germline

Chr11:108329242

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA298052

rs_730881316

4 SubmittersRCV000159649 RCV000212061 RCV001051122 RCV005420570

NM_000051.4(ATM):c.7494T>C (p.Ser2498=)

SNV
Germline

Chr11:108330400

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
not specified
Condition: not provided
Carcinoma of colon
Breast and/or ovarian cancer
ATM-related disorder
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA297966

rs_34393781

16 SubmittersRCV000159594 RCV000205045 RCV000212070 RCV000589020 RCV001356383 RCV003492636 RCV004551364 RCV004589650

NM_000051.4(ATM):c.7927+10T>C

SNV
Germline

Chr11:108332910

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA297970

rs_730881277

6 SubmittersRCV000159596 RCV000198055 RCV000582584 RCV004589651 RCV004998307 RCV005394548

NM_000051.4(ATM):c.7997C>A (p.Thr2666Asn)

SNV
Germline

Chr11:108333955

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA298325

rs_730881384

4 SubmittersRCV000159752 RCV000628059 RCV001027026 RCV003467237

NM_000051.4(ATM):c.8405A>G (p.Gln2802Arg)

SNV
Germline

Chr11:108343358

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA298077

rs_730881324

8 SubmittersRCV000159660 RCV000464909 RCV000562069 RCV003467222

NM_000051.4(ATM):c.8428A>C (p.Lys2810Gln)

SNV
Germline

Chr11:108345752

Conflicting classifications of pathogenicity

Condition: not provided
Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Ataxia-telangiectasia syndrome
Malignant tumor of breast
not specified
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA298080

rs_730881325

21 SubmittersRCV000159661 RCV000168380 RCV000569229 RCV000764950 RCV001354380 RCV001526890 RCV003467223

NM_000051.4(ATM):c.8532T>C (p.Ile2844=)

SNV
Germline

Chr11:108345856

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Ataxia-telangiectasia syndrome
Condition: not provided
ATM-related disorder
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA297972

rs_730881278

17 SubmittersRCV000159598 RCV000212085 RCV000231198 RCV001580007 RCV004551365 RCV004589652

NM_000051.4(ATM):c.8584+2T>C

SNV
Germline

Chr11:108345910

Pathogenic/Likely pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Breast and/or ovarian cancer
Familial cancer of breast
Familial cancer of breast
Ataxia-telangiectasia syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA298083

rs_730881326

10 SubmittersRCV000411372 RCV000567828 RCV001798543 RCV003462070 RCV005042309

NM_000051.4(ATM):c.8672-13T>G

SNV
Germline

Chr11:108353753

Conflicting classifications of pathogenicity

not specified
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA297978

rs_730881280

3 SubmittersRCV000159600 RCV001857580 RCV004567186

NM_000051.4(ATM):c.8988-1G>C

SNV
Germline

Chr11:108365324

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA298332

rs_730881386

12 SubmittersRCV000159756 RCV000627869 RCV000563949 RCV003467238 RCV002492633

NM_000051.4(ATM):c.9008A>G (p.Asn3003Ser)

SNV
Germline

Chr11:108365345

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA298099

rs_144636562

8 SubmittersRCV000159669 RCV000221585 RCV000531722 RCV004567189

NM_000051.4(ATM):c.9031A>G (p.Met3011Val)

SNV
Germline

Chr11:108365368

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided
not specified
Familial cancer of breast
ATM-related disorder

Criteria Provided
Conflicting Classifications

CA298102

rs_372795527

14 SubmittersRCV000159670 RCV000196967 RCV000212097 RCV000779780 RCV003153436 RCV004739496

NM_000051.4(ATM):c.9166G>T (p.Val3056Leu)

SNV
Germline

Chr11:108365503

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided
Familial cancer of breast
ATM-related disorder
Familial cancer of breast
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

CA298108

rs_371767164

15 SubmittersRCV000159672 RCV000200661 RCV000589071 RCV003467224 RCV004551370 RCV005042310

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.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.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.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.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.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.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.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.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.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.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_024675.4(PALB2):c.3474T>A (p.His1158Gln)

SNV
Germline

Chr16:23603546

Conflicting classifications of pathogenicity

Condition: not provided
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA299759

rs_730881896

4 SubmittersRCV000160857 RCV000464364 RCV000576122

NM_024675.4(PALB2):c.3404G>A (p.Gly1135Glu)

SNV
Germline

Chr16:23603616

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
Carcinoma of colon
not specified
Familial cancer of breast
Pancreatic cancer, susceptibility to, 3
Fanconi anemia complementation group N

Criteria Provided
Conflicting Classifications

CA299753

rs_730881894

12 SubmittersRCV000232726 RCV000570480 RCV000589198 RCV001030415 RCV000855602 RCV002492638

NM_024675.4(PALB2):c.3278T>C (p.Ile1093Thr)

SNV
Germline

Chr16:23607936

Conflicting classifications of pathogenicity

Condition: not provided
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Malignant tumor of breast
Breast-ovarian cancer, familial, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA299750

rs_45616636

9 SubmittersRCV000160854 RCV000197231 RCV000223658 RCV001357444 RCV003483530

NM_024675.4(PALB2):c.3235G>T (p.Ala1079Ser)

SNV
Germline

Chr16:23607979

Conflicting classifications of pathogenicity

Condition: not provided
Familial cancer of breast
Hereditary cancer-predisposing syndrome
not specified
Breast-ovarian cancer, familial, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA299697

rs_730881878

12 SubmittersRCV000160829 RCV000543305 RCV000564254 RCV001797644 RCV005359383

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.3202-8G>A

SNV
Germline

Chr16:23608020

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA299679

rs_367979106

7 SubmittersRCV000160821 RCV000488296 RCV000579984 RCV001081288

NM_024675.4(PALB2):c.2922G>T (p.Lys974Asn)

SNV
Germline

Chr16:23623043

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA299744

rs_730881892

11 SubmittersRCV000160849 RCV000205333 RCV000566246 RCV001355089 RCV002267894

NM_024675.4(PALB2):c.2834+1G>A

SNV
Germline

Chr16:23624008

Pathogenic/Likely pathogenic

Condition: not provided
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Malignant tumor of breast
Fanconi anemia complementation group N
Pancreatic cancer, susceptibility to, 3
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA299740

rs_587776419

9 SubmittersRCV000160847 RCV000635960 RCV001016726 RCV001268941 RCV002478488

NM_024675.4(PALB2):c.2699C>T (p.Ala900Val)

SNV
Germline

Chr16:23626285

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Familial cancer of breast
Pancreatic cancer, susceptibility to, 3
Fanconi anemia complementation group N
Pancreatic cancer, susceptibility to, 3
Fanconi anemia complementation group N
Breast-ovarian cancer, familial, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA299734

rs_730881890

7 SubmittersRCV000160844 RCV000216145 RCV000555792 RCV002485001 RCV005394561

NM_024675.4(PALB2):c.2353C>T (p.Pro785Ser)

SNV
Germline

Chr16:23629801

Conflicting classifications of pathogenicity

Condition: not provided
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Hereditary cancer

Criteria Provided
Conflicting Classifications

CA299731

rs_730881889

7 SubmittersRCV000160842 RCV000460019 RCV001015124 RCV004700497

NM_024675.4(PALB2):c.2329G>A (p.Asp777Asn)

SNV
Germline

Chr16:23629825

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided

Criteria Provided
Conflicting Classifications

CA299728

rs_148026749

8 SubmittersRCV000160841 RCV000204167 RCV000212809

NM_024675.4(PALB2):c.2229T>A (p.Tyr743Ter)

SNV
Germline

Chr16:23629925

Pathogenic/Likely pathogenic

Condition: not provided
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 5

Criteria Provided
Multiple Submitters
No Conflicts

CA299725

rs_730881888

6 SubmittersRCV000160839 RCV002466252 RCV002426793 RCV004992040

NM_024675.4(PALB2):c.2128A>G (p.Thr710Ala)

SNV
Germline

Chr16:23630026

Conflicting classifications of pathogenicity

Condition: not provided
Familial cancer of breast
Hereditary cancer-predisposing syndrome
not specified
Familial cancer of breast
Pancreatic cancer, susceptibility to, 3
Fanconi anemia complementation group N
PALB2-related disorder

Criteria Provided
Conflicting Classifications

CA299722

rs_730881887

12 SubmittersRCV000160838 RCV000232377 RCV000569204 RCV000780572 RCV002485000 RCV004535048

NM_024675.4(PALB2):c.2106A>G (p.Ile702Met)

SNV
Germline

Chr16:23630048

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided

Criteria Provided
Conflicting Classifications

CA299719

rs_730881886

10 SubmittersRCV000160837 RCV000211076 RCV000212805

NM_024675.4(PALB2):c.2020G>A (p.Asp674Asn)

SNV
Germline

Chr16:23630134

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group N
Pancreatic cancer, susceptibility to, 3
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA299716

rs_730881885

6 SubmittersRCV000160836 RCV000217309 RCV000548729 RCV002505195

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.1610C>T (p.Ser537Leu)

SNV
Germline

Chr16:23634936

Conflicting classifications of pathogenicity

Condition: not provided
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Carcinoma of colon
Fanconi anemia complementation group N
PALB2-related disorder

Criteria Provided
Conflicting Classifications

CA299796

rs_142103232

14 SubmittersRCV000160871 RCV000168207 RCV000220923 RCV001030240 RCV001121722 RCV004535051

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.1471G>C (p.Ala491Pro)

SNV
Germline

Chr16:23635075

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Familial cancer of breast
Pancreatic cancer, susceptibility to, 3
Fanconi anemia complementation group N
PALB2-related disorder

Criteria Provided
Conflicting Classifications

CA299793

rs_577969558

7 SubmittersRCV000160869 RCV000216241 RCV000635626 RCV002485002 RCV004535050

NM_024675.4(PALB2):c.1407C>G (p.Cys469Trp)

SNV
Germline

Chr16:23635139

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA299710

rs_730881883

5 SubmittersRCV000160834 RCV000571438 RCV000810010

NM_024675.4(PALB2):c.1400G>A (p.Gly467Asp)

SNV
Germline

Chr16:23635146

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA299790

rs_730881906

6 SubmittersRCV000160868 RCV000212793 RCV000549785 RCV006450037

NM_024675.4(PALB2):c.1156A>G (p.Thr386Ala)

SNV
Germline

Chr16:23635390

Conflicting classifications of pathogenicity

Condition: not provided
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Pancreatic cancer, susceptibility to, 3
Fanconi anemia complementation group N

Criteria Provided
Conflicting Classifications

CA299787

rs_148102335

6 SubmittersRCV000160867 RCV000528086 RCV000773131 RCV002492639

NM_024675.4(PALB2):c.688G>T (p.Glu230Ter)

SNV
Germline

Chr16:23635858

Pathogenic

Condition: not provided
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA299784

rs_730881905

8 SubmittersRCV000160866 RCV000471920 RCV000561729

NM_024675.4(PALB2):c.587G>A (p.Arg196Lys)

SNV
Germline

Chr16:23635959

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast
PALB2-related disorder

Criteria Provided
Conflicting Classifications

CA299781

rs_730881904

7 SubmittersRCV000160865 RCV000216462 RCV000228567 RCV004535049

NM_024675.4(PALB2):c.397A>G (p.Ser133Gly)

SNV
Germline

Chr16:23636149

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA299704

rs_730881881

6 SubmittersRCV000227552 RCV000454193 RCV000587887

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_024675.4(PALB2):c.161A>G (p.Glu54Gly)

SNV
Germline

Chr16:23637900

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
not specified

Criteria Provided
Conflicting Classifications

CA299763

rs_730881898

5 SubmittersRCV000160859 RCV000212769 RCV000463943 RCV000780564

NM_024675.4(PALB2):c.109-2A>G

SNV
Germline

Chr16:23637954

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 5
Fanconi anemia complementation group N
Pancreatic cancer, susceptibility to, 3

Criteria Provided
Multiple Submitters
No Conflicts

CA299762

rs_730881897

9 SubmittersRCV000160858 RCV000572657 RCV000803061 RCV005016482

NM_024675.4(PALB2):c.43G>T (p.Glu15Ter)

SNV
Germline

Chr16:23641115

Pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA299713

rs_730881884

6 SubmittersRCV000160835 RCV000567534 RCV001036521

NM_004360.5(CDH1):c.200C>G (p.Ala67Gly)

SNV
Germline

Chr16:68801706

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary diffuse gastric adenocarcinoma
Hereditary cancer-predisposing syndrome
not specified
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA298962

rs_730881660

6 SubmittersRCV000160381 RCV000458777 RCV001014024 RCV001192626 RCV003462087

NM_004360.5(CDH1):c.268C>T (p.Arg90Trp)

SNV
Germline

Chr16:68801774

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary diffuse gastric adenocarcinoma
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA298965

rs_730881661

8 SubmittersRCV000160382 RCV000212347 RCV000410067 RCV004567204

NM_004360.5(CDH1):c.1143G>C (p.Lys381Asn)

SNV
Germline

Chr16:68813318

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary diffuse gastric adenocarcinoma
Condition: not provided
not specified
Familial cancer of breast
Blepharocheilodontic syndrome 1
Endometrial carcinoma
Hereditary diffuse gastric adenocarcinoma
Ovarian cancer

Criteria Provided
Conflicting Classifications

CA298983

rs_143727462

11 SubmittersRCV000160388 RCV000168152 RCV000589641 RCV001420706 RCV005016479

NM_004360.5(CDH1):c.1477G>C (p.Val493Leu)

SNV
Germline

Chr16:68815671

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary diffuse gastric adenocarcinoma
not specified
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA298992

rs_730881666

8 SubmittersRCV000160392 RCV000221777 RCV000206225 RCV001800470 RCV003462088

NM_004360.5(CDH1):c.1610C>T (p.Pro537Leu)

SNV
Germline

Chr16:68819324

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary diffuse gastric adenocarcinoma
Carcinoma of colon
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA298995

rs_730881667

9 SubmittersRCV000160393 RCV000212373 RCV000234355 RCV001356277 RCV004567205

NM_004360.5(CDH1):c.2026G>A (p.Asp676Asn)

SNV
Germline

Chr16:68823488

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary diffuse gastric adenocarcinoma
Condition: not provided
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA299004

rs_115408226

9 SubmittersRCV000160396 RCV000168234 RCV000212379 RCV003462089

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.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.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.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.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.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.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_032043.3(BRIP1):c.3559G>A (p.Ala1187Thr)

SNV
Germline

Chr17:61683487

Conflicting classifications of pathogenicity

Condition: not provided
Familial cancer of breast
Fanconi anemia complementation group J
Hereditary cancer-predisposing syndrome
Familial cancer of breast
not specified
BRIP1-related disorder
Breast and/or ovarian cancer
Fanconi anemia complementation group J
Ovarian cancer

Criteria Provided
Conflicting Classifications

CA298847

rs_367610893

12 SubmittersRCV000160327 RCV000226626 RCV000573454 RCV000989974 RCV001192971 RCV004544466 RCV003492648 RCV005430213

NM_032043.3(BRIP1):c.2935A>G (p.Lys979Glu)

SNV
Germline

Chr17:61684111

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
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA298844

rs_730881627

8 SubmittersRCV000160326 RCV000205057 RCV000212331 RCV002254684 RCV004567202

NM_032043.3(BRIP1):c.2390A>G (p.Lys797Arg)

SNV
Germline

Chr17:61716053

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Fanconi anemia complementation group J
not specified
Fanconi anemia complementation group J
Familial cancer of breast
Fanconi anemia complementation group J
Ovarian cancer

Criteria Provided
Conflicting Classifications

CA298825

rs_730881622

12 SubmittersRCV000160319 RCV000212323 RCV000477092 RCV000781178 RCV001194708 RCV003315951 RCV005430211

NM_032043.3(BRIP1):c.1684A>G (p.Ile562Val)

SNV
Germline

Chr17:61780950

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Fanconi anemia complementation group J
Familial cancer of breast
not specified
Fanconi anemia complementation group J
Ovarian cancer
Familial ovarian cancer

Criteria Provided
Conflicting Classifications

CA298890

rs_45533636

9 SubmittersRCV000160342 RCV000212314 RCV000456914 RCV003315954 RCV004689633 RCV005430215 RCV005600754

NM_032043.3(BRIP1):c.1356C>T (p.Asn452=)

SNV
Germline

Chr17:61793714

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group J
BRIP1-related disorder
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA298911

rs_730881640

8 SubmittersRCV000160351 RCV000213455 RCV000205394 RCV004544467 RCV004791283

NM_032043.3(BRIP1):c.1257G>A (p.Arg419=)

SNV
Germline

Chr17:61799183

Conflicting classifications of pathogenicity

not specified
Familial cancer of breast
Fanconi anemia complementation group J
Hereditary cancer-predisposing syndrome
Familial ovarian cancer
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA298908

rs_148429663

8 SubmittersRCV000160350 RCV000534624 RCV000570359 RCV005365049 RCV004786436

NM_032043.3(BRIP1):c.1156A>T (p.Lys386Ter)

SNV
Germline

Chr17:61799284

Pathogenic/Likely pathogenic

Condition: not provided
Fanconi anemia complementation group J
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA298875

rs_730881635

4 SubmittersRCV000505742 RCV001390434 RCV002354404 RCV003335147

NM_032043.3(BRIP1):c.1077A>G (p.Ile359Met)

SNV
Germline

Chr17:61801316

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA298872

rs_730881634

5 SubmittersRCV000160336 RCV000565573 RCV001300398 RCV004567203

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.394A>T (p.Thr132Ser)

SNV
Germline

Chr17:61849242

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group J
Condition: not provided
not specified
Familial cancer of breast
Familial ovarian cancer
Fanconi anemia complementation group J
Ovarian cancer

Criteria Provided
Conflicting Classifications

CA298828

rs_730881623

10 SubmittersRCV000160320 RCV000167936 RCV000212300 RCV002298487 RCV003315952 RCV005359357 RCV005430212

NM_032043.3(BRIP1):c.370A>G (p.Thr124Ala)

SNV
Germline

Chr17:61857067

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
Familial cancer of breast
BRIP1-related disorder
Ovarian cancer

Criteria Provided
Conflicting Classifications

CA298931

rs_45617634

9 SubmittersRCV000160363 RCV000205266 RCV000212299 RCV000409265 RCV003315958 RCV004732719 RCV005430225

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.493C>T (p.Gln165Ter)

SNV
Germline/somatic

Chr17:7675119

Pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Ovarian neoplasm
Lip and oral cavity carcinoma
Squamous cell carcinoma of the head and neck
Familial cancer of breast
Li-Fraumeni syndrome 1
Neoplasm

Criteria Provided
Multiple Submitters
No Conflicts

CA000243

rs_730882001

12 SubmittersRCV000161028 RCV000219202 RCV000633373 RCV000785484 RCV001255634 RCV001270262 RCV002272147 RCV002288688 RCV006273578

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.1501G>A (p.Glu501Lys)

SNV
Germline

Chr22:28689176

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA299092

rs_17883172

10 SubmittersRCV000160440 RCV000205886 RCV000213437 RCV001356202 RCV002265635

NM_007194.4(CHEK2):c.1462-7C>G

SNV
Germline

Chr22:28689222

Conflicting classifications of pathogenicity

not specified
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Breast and/or ovarian cancer
Condition: not provided
Bone osteosarcoma
Familial prostate cancer
CHEK2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA299125

rs_730881707

9 SubmittersRCV000160460 RCV000203819 RCV000776283 RCV001798551 RCV002510799 RCV005394554

NM_007194.4(CHEK2):c.1356G>A (p.Trp452Ter)

SNV
Germline

Chr22:28695146

Pathogenic

Condition: not provided
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA299112

rs_730881702

6 SubmittersRCV000160453 RCV000559596 RCV001804883

NM_007194.4(CHEK2):c.1260-10C>G

SNV
Germline

Chr22:28695252

Conflicting classifications of pathogenicity

not specified
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
Breast and/or ovarian cancer

Criteria Provided
Conflicting Classifications

CA299124

rs_730881706

14 SubmittersRCV000160459 RCV000199374 RCV000581114 RCV001528944 RCV003149974

NM_007194.4(CHEK2):c.1039G>A (p.Asp347Asn)

SNV
Germline

Chr22:28696957

Conflicting classifications of pathogenicity

Condition: not provided
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA299076

rs_28909980

11 SubmittersRCV000160431 RCV000205583 RCV000221549

NM_007194.4(CHEK2):c.1037G>A (p.Arg346His)

SNV
Germline

Chr22:28696959

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
not specified
Predisposition to cancer
Hereditary nonpolyposis colon cancer
CHEK2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA299074

rs_730881688

13 SubmittersRCV000160430 RCV000203780 RCV000656833 RCV001844056 RCV004786437 RCV005359363 RCV005414469

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_007194.4(CHEK2):c.322T>C (p.Cys108Arg)

SNV
Germline

Chr22:28725365

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided

Criteria Provided
Conflicting Classifications

CA299061

rs_730881681

11 SubmittersRCV000160423 RCV000198019 RCV000212413

NM_001048174.2(MUTYH):c.206G>A (p.Arg69Gln)

SNV
Germline

Chr1:45333471

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 2
not specified
Carcinoma of colon
Condition: not provided
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA013305

rs_755653922

12 SubmittersRCV000164952 RCV000555612 RCV000612945 RCV001354534 RCV003151751 RCV003153444

NM_000465.4(BARD1):c.2280G>A (p.Ser760=)

SNV
Germline

Chr2:214728730

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA188501

rs_749959440

11 SubmittersRCV000163516 RCV000506402 RCV000469571 RCV001085037 RCV001355524

NM_000465.4(BARD1):c.2268G>A (p.Trp756Ter)

SNV
Germline

Chr2:214728742

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast
BARD1-related cancer predisposition

Criteria Provided
Multiple Submitters
No Conflicts

CA191740

rs_786202118

4 SubmittersRCV000164774 RCV003500508 RCV006554481

NM_000465.4(BARD1):c.2255A>G (p.Gln752Arg)

SNV
Germline

Chr2:214728755

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
not specified

Criteria Provided
Conflicting Classifications

CA190373

rs_755369095

3 SubmittersRCV000164220 RCV000463776 RCV003479034

NM_000465.4(BARD1):c.2191C>T (p.Arg731Cys)

SNV
Germline

Chr2:214728819

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Ovarian cancer
BARD1-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA333916

rs_76744638

11 SubmittersRCV000167289 RCV000204878 RCV000483971 RCV003153458 RCV005600796

NM_000465.4(BARD1):c.2082C>T (p.Leu694=)

SNV
Germline

Chr2:214728928

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Familial cancer of breast
BARD1-related disorder

Criteria Provided
Conflicting Classifications

CA194479

rs_139620052

8 SubmittersRCV000165901 RCV000419050 RCV000636008 RCV003975237

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.1613G>A (p.Ser538Asn)

SNV
Germline

Chr2:214752511

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
not specified
BARD1-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA194054

rs_370771157

12 SubmittersRCV000165715 RCV000206723 RCV000679334 RCV002469037 RCV005600783

NM_000465.4(BARD1):c.1586G>A (p.Arg529Gln)

SNV
Germline

Chr2:214752538

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Familial pancreatic carcinoma
not specified
BARD1-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA198126

rs_753479021

12 SubmittersRCV000167371 RCV000226041 RCV000485842 RCV001357502 RCV001582659 RCV005600797

NM_000465.4(BARD1):c.1585C>T (p.Arg529Trp)

SNV
Germline

Chr2:214752539

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
not specified
BARD1-related disorder
BARD1-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA333867

rs_375515606

12 SubmittersRCV000164385 RCV000205438 RCV000485744 RCV003479035 RCV004739518 RCV005600770

NM_000465.4(BARD1):c.1473G>A (p.Gly491=)

SNV
Germline

Chr2:214767577

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Familial cancer of breast
BARD1-related disorder
BARD1-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA187765

rs_151080730

12 SubmittersRCV000163219 RCV000438192 RCV000531846 RCV001085196 RCV003927535 RCV005359414

NM_000465.4(BARD1):c.1317C>T (p.Gly439=)

SNV
Germline

Chr2:214769310

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA195728

rs_369986649

6 SubmittersRCV000166386 RCV000606302 RCV000997656 RCV001056190

NM_000465.4(BARD1):c.1268A>G (p.Lys423Arg)

SNV
Germline

Chr2:214780606

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
BARD1-related disorder

Criteria Provided
Conflicting Classifications

CA196559

rs_749383704

11 SubmittersRCV000166718 RCV000482421 RCV000635819 RCV003407620

NM_000465.4(BARD1):c.1159T>C (p.Phe387Leu)

SNV
Germline

Chr2:214780715

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA195649

rs_759370463

10 SubmittersRCV000166361 RCV000228647 RCV000236125 RCV003987385

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.1152C>T (p.Ser384=)

SNV
Germline

Chr2:214780722

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Triple-Negative Breast Cancer Finding
Familial cancer of breast
not specified

Criteria Provided
Conflicting Classifications

CA190263

rs_368291318

13 SubmittersRCV000164186 RCV000590620 RCV000678223 RCV001080316 RCV001281718

NM_000465.4(BARD1):c.1148T>A (p.Met383Lys)

SNV
Germline

Chr2:214780726

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA190846

rs_763596413

9 SubmittersRCV000164393 RCV000462462 RCV001354646 RCV001569258

NM_000465.4(BARD1):c.1136A>G (p.Lys379Arg)

SNV
Germline

Chr2:214780738

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
BARD1-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA196078

rs_750827325

7 SubmittersRCV000166517 RCV000692255 RCV001284378 RCV003947432 RCV003987387

NM_000465.4(BARD1):c.1084T>G (p.Cys362Gly)

SNV
Germline

Chr2:214780790

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided

Criteria Provided
Conflicting Classifications

CA190505

rs_141351035

7 SubmittersRCV000164272 RCV000470186 RCV000478667

NM_000465.4(BARD1):c.1061C>G (p.Ser354Ter)

SNV
Germline

Chr2:214780813

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA193360

rs_786202559

5 SubmittersRCV000165421 RCV000810857 RCV005001010

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_000465.4(BARD1):c.644A>G (p.Asn215Ser)

SNV
Germline

Chr2:214781230

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
not specified
BARD1-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA188538

rs_774929973

10 SubmittersRCV000163529 RCV000237014 RCV000461423 RCV000781938 RCV005600767

NM_000465.4(BARD1):c.565G>A (p.Ala189Thr)

SNV
Germline

Chr2:214781309

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
not specified

Criteria Provided
Conflicting Classifications

CA191704

rs_786202110

4 SubmittersRCV000164758 RCV000635712 RCV002247567

NM_000465.4(BARD1):c.496C>T (p.Gln166Ter)

SNV
Germline

Chr2:214781378

Pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
BARD1-related cancer predisposition

Criteria Provided
Multiple Submitters
No Conflicts

CA193142

rs_786202500

7 SubmittersRCV000165343 RCV000437177 RCV000691023 RCV005600780

NM_000465.4(BARD1):c.476G>A (p.Ser159Asn)

SNV
Germline

Chr2:214781398

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA195899

rs_786203226

5 SubmittersRCV000166447 RCV000226311 RCV000479746 RCV001192857

NM_000465.4(BARD1):c.334C>T (p.Arg112Ter)

SNV
Germline

Chr2:214792327

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Breast and/or ovarian cancer
Malignant tumor of breast
Autosomal dominant BARD1-related disorders

Criteria Provided
Multiple Submitters
No Conflicts

CA191137

rs_758972589

12 SubmittersRCV000164507 RCV000413073 RCV000233846 RCV001270959 RCV002281980 RCV006554480

NM_000465.4(BARD1):c.298C>T (p.Gln100Ter)

SNV
Germline

Chr2:214792363

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
BARD1-related cancer predisposition

Criteria Provided
Multiple Submitters
No Conflicts

CA190946

rs_786201912

9 SubmittersRCV000164438 RCV000459220 RCV002307421 RCV005600774

NM_000465.4(BARD1):c.279A>G (p.Gln93=)

SNV
Germline

Chr2:214792382

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
not specified
BARD1-related disorder
BARD1-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA186410

rs_370000575

12 SubmittersRCV000162525 RCV000206287 RCV000434949 RCV003927533 RCV005359392

NM_000465.4(BARD1):c.267G>A (p.Pro89=)

SNV
Germline

Chr2:214792394

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA187834

rs_756165637

8 SubmittersRCV000163243 RCV000686113 RCV001721041 RCV006456753

NM_000465.4(BARD1):c.159T>C (p.Cys53=)

SNV
Germline

Chr2:214797117

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Breast and/or ovarian cancer
BARD1-related disorder

Criteria Provided
Conflicting Classifications

CA194230

rs_201708813

9 SubmittersRCV000165804 RCV000198977 RCV001085437 RCV003491903 RCV003954979

NM_000465.4(BARD1):c.144G>A (p.Leu48=)

SNV
Germline

Chr2:214809426

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Breast and/or ovarian cancer

Criteria Provided
Conflicting Classifications

CA333850

rs_151168457

11 SubmittersRCV000163861 RCV000587640 RCV001079693 RCV003492683

NM_000465.4(BARD1):c.73G>C (p.Ala25Pro)

SNV
Germline

Chr2:214809497

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Malignant tumor of breast
not specified
BARD1-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA333878

rs_751646468

10 SubmittersRCV000164946 RCV000203712 RCV001354641 RCV002465549 RCV005600778

NM_000465.4(BARD1):c.-4G>A

SNV
Germline

Chr2:214809573

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
BARD1-related disorder
Hereditary cancer
not specified

Criteria Provided
Conflicting Classifications

CA189055

rs_761863671

9 SubmittersRCV000163727 RCV000588551 RCV001356902 RCV003895113 RCV004698828 RCV005889603

NM_000251.3(MSH2):c.-181G>A

SNV
Germline

Chr2:47403011

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms
Condition: not provided
Familial cancer of breast
Lynch syndrome 1
Muir-Torré syndrome
Mismatch repair cancer syndrome 2
MSH2-related disorder

Criteria Provided
Conflicting Classifications

CA021770

rs_786201698

7 SubmittersRCV000164108 RCV000410088 RCV001346811 RCV001536270 RCV005359463 RCV002492654 RCV004535093

NM_000249.4(MLH1):c.954C>A (p.His318Gln)

SNV
Germline

Chr3:37020379

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Familial cancer of breast
Colorectal cancer, hereditary nonpolyposis, type 2
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA013266

rs_146777069

7 SubmittersRCV000167219 RCV000702569 RCV001005036 RCV003468801 RCV003995574

NM_000249.4(MLH1):c.1667G>C (p.Ser556Thr)

SNV
Germline

Chr3:37040294

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colorectal neoplasms
Familial cancer of breast
Condition: not provided
Lynch syndrome
Hereditary nonpolyposis colon cancer
Muir-Torré syndrome

Criteria Provided
Conflicting Classifications

CA006285

rs_63751596

9 SubmittersRCV000164556 RCV000822496 RCV002463655 RCV003477610 RCV004806133 RCV005237615 RCV005359479

NM_000314.8(PTEN):c.370T>G (p.Cys124Gly)

SNV
Germline

Chr10:87933129

Pathogenic

Hereditary cancer-predisposing syndrome
PTEN hamartoma tumor syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA000149

rs_121909223

3 SubmittersRCV000165307 RCV002517621 RCV005889617

NM_000051.4(ATM):c.1A>C (p.Met1Leu)

SNV
Germline

Chr11:108227625

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA197028

rs_730881359

7 SubmittersRCV000166918 RCV000576648 RCV004019993

NM_000051.4(ATM):c.2T>C (p.Met1Thr)

SNV
Germline

Chr11:108227626

Pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided
Familial cancer of breast
Familial cancer of breast
Ataxia-telangiectasia syndrome
ATM-related cancer predisposition

Reviewed By Expert Panel

CA197209

rs_786203606

14 SubmittersRCV000166992 RCV000168377 RCV000519260 RCV002221505 RCV003483551 RCV005638457

NM_000051.4(ATM):c.115A>G (p.Thr39Ala)

SNV
Germline

Chr11:108227818

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided
Ataxia-telangiectasia syndrome
Malignant tumor of breast
Familial cancer of breast
not specified
ATM-related disorder

Criteria Provided
Conflicting Classifications

CA190693

rs_779297339

18 SubmittersRCV000164338 RCV000231502 RCV000416278 RCV001535538 RCV002288733 RCV002509264 RCV004552886

NM_000051.4(ATM):c.131A>G (p.Asp44Gly)

SNV
Germline

Chr11:108227834

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA194916

rs_150143957

16 SubmittersRCV000166071 RCV000197254 RCV000590355 RCV001255212 RCV003474873

NM_000051.4(ATM):c.151C>T (p.Gln51Ter)

SNV
Germline

Chr11:108227854

Pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA198174

rs_786203888

3 SubmittersRCV000167389 RCV001068287 RCV004019997

NM_000051.4(ATM):c.180T>G (p.Val60=)

SNV
Germline

Chr11:108227883

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA188454

rs_786201375

5 SubmittersRCV000163497 RCV000628316 RCV002291576 RCV004589713

NM_000051.4(ATM):c.332-3T>C

SNV
Germline

Chr11:108235667

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
not specified
Condition: not provided
Familial cancer of breast
ATM-related disorder

Criteria Provided
Conflicting Classifications

CA194908

rs_376116157

10 SubmittersRCV000166067 RCV000226757 RCV000430214 RCV001704210 RCV004589781 RCV004552915

NM_000051.4(ATM):c.411C>T (p.Tyr137=)

SNV
Germline

Chr11:108235749

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided
not specified
ATM-related disorder
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA186984

rs_756160533

9 SubmittersRCV000162797 RCV000272976 RCV001721030 RCV002222414 RCV004551383 RCV004589690

NM_000051.4(ATM):c.507T>C (p.Ser169=)

SNV
Germline

Chr11:108243963

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
not specified
Breast and/or ovarian cancer
Condition: not provided
Familial cancer of breast
ATM-related disorder
Familial colorectal cancer type X

Criteria Provided
Conflicting Classifications

CA187471

rs_758619186

16 SubmittersRCV000163111 RCV000228014 RCV000500341 RCV001798569 RCV001711435 RCV004589699 RCV004551385 RCV005359408

NM_000051.4(ATM):c.513C>G (p.Tyr171Ter)

SNV
Germline

Chr11:108243969

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA190051

rs_786201693

8 SubmittersRCV000164103 RCV000520700 RCV000533506 RCV003467285

NM_000051.4(ATM):c.712A>G (p.Ile238Val)

SNV
Germline

Chr11:108244837

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA194160

rs_754275014

15 SubmittersRCV000165761 RCV000229485 RCV000235409 RCV001196993 RCV005055661

NM_000051.4(ATM):c.728T>C (p.Leu243Ser)

SNV
Germline

Chr11:108244853

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided
ATM-related disorder
Familial cancer of breast
ATM-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA191675

rs_786202096

8 SubmittersRCV000164740 RCV000476928 RCV000479879 RCV004552896 RCV004567252 RCV005359487

NM_000051.4(ATM):c.858A>G (p.Gln286=)

SNV
Germline

Chr11:108244983

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
not specified
Condition: not provided
ATM-related disorder
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA191148

rs_145301478

9 SubmittersRCV000164514 RCV000468266 RCV000606983 RCV002460940 RCV004552892 RCV004589750

NM_000051.4(ATM):c.901+1G>A

SNV
Germline

Chr11:108245027

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast
Ataxia-telangiectasia syndrome
Familial cancer of breast
Ovarian serous cystadenocarcinoma

Criteria Provided
Multiple Submitters
No Conflicts

CA195792

rs_748840480

13 SubmittersRCV000166407 RCV000205735 RCV000515230 RCV003474877 RCV005889629

NM_000051.4(ATM):c.1065+1G>T

SNV
Germline

Chr11:108247128

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Ataxia-telangiectasia syndrome
Malignant tumor of breast
Familial cancer of breast
Familial cancer of breast
Ataxia-telangiectasia syndrome
ATM-related cancer predisposition

Criteria Provided
Multiple Submitters
No Conflicts

CA194915

rs_201089102

15 SubmittersRCV000166070 RCV000436210 RCV000411731 RCV001420920 RCV003468770 RCV005396486 RCV006554483

NM_000051.4(ATM):c.1261T>C (p.Ser421Pro)

SNV
Germline

Chr11:108250726

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA193982

rs_376196220

5 SubmittersRCV000165683 RCV000203884 RCV000480887 RCV003468750

NM_000051.4(ATM):c.1271C>A (p.Pro424His)

SNV
Germline

Chr11:108250736

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Ataxia-telangiectasia syndrome
not specified
Familial cancer of breast
Familial colorectal cancer type X

Criteria Provided
Conflicting Classifications

CA190822

rs_147472613

13 SubmittersRCV000164384 RCV000218574 RCV000526201 RCV001193062 RCV003467294 RCV005359470

NM_000051.4(ATM):c.1351C>T (p.Arg451Cys)

SNV
Germline

Chr11:108250816

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided
ATM-related disorder
Familial cancer of breast
Ataxia-telangiectasia syndrome
Familial cancer of breast
not specified

Criteria Provided
Conflicting Classifications

CA191951

rs_201719927

13 SubmittersRCV000164863 RCV000200270 RCV000235327 RCV004552897 RCV005042330 RCV004589759 RCV005406867

NM_000051.4(ATM):c.1481G>A (p.Gly494Asp)

SNV
Germline

Chr11:108250946

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA192151

rs_786202233

8 SubmittersRCV000164949 RCV000669269 RCV001574162 RCV003462158 RCV003153443

NM_000051.4(ATM):c.1629T>G (p.Thr543=)

SNV
Germline

Chr11:108251858

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided
not specified
ATM-related disorder
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA187640

rs_760285673

11 SubmittersRCV000163170 RCV000232728 RCV001668321 RCV001582640 RCV004551388 RCV004589704

NM_000051.4(ATM):c.1648A>G (p.Ile550Val)

SNV
Germline

Chr11:108251877

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided
Malignant tumor of breast
Familial cancer of breast
ATM-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA192929

rs_202144949

12 SubmittersRCV000165266 RCV000470788 RCV001721071 RCV001356838 RCV002288745 RCV004552903 RCV006263705

NM_000051.4(ATM):c.1700A>G (p.Asn567Ser)

SNV
Germline

Chr11:108251929

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA195908

rs_786203230

6 SubmittersRCV000166452 RCV000235690 RCV001071389 RCV004567303

NM_000051.4(ATM):c.1737G>A (p.Trp579Ter)

SNV
Germline

Chr11:108251966

Pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA190035

rs_786201689

4 SubmittersRCV000164097 RCV001215174 RCV004019962

NM_000051.4(ATM):c.1844T>C (p.Leu615Pro)

SNV
Germline

Chr11:108252858

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA197807

rs_786203783

9 SubmittersRCV000167236 RCV000819663 RCV003444209 RCV004721285

NM_000051.4(ATM):c.2064A>G (p.Glu688=)

SNV
Germline

Chr11:108253979

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Ataxia-telangiectasia syndrome
Familial cancer of breast
ATM-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA189331

rs_772739433

6 SubmittersRCV000163846 RCV000600866 RCV000924632 RCV004589734 RCV005359445

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.2098C>T (p.Gln700Ter)

SNV
Germline

Chr11:108254013

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA194043

rs_786202743

8 SubmittersRCV000165710 RCV000525812 RCV000430405 RCV000762816 RCV003462186

NM_000051.4(ATM):c.2220A>G (p.Ala740=)

SNV
Germline

Chr11:108256310

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
not specified
Malignant tumor of breast
Condition: not provided
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA188498

rs_56353517

12 SubmittersRCV000163515 RCV000232692 RCV001192849 RCV001356556 RCV001711329 RCV003315999

NM_000051.4(ATM):c.2251-4A>G

SNV
Germline

Chr11:108257477

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA194765

rs_786202935

11 SubmittersRCV000166010 RCV000628167 RCV000658621 RCV003462196 RCV005861070

NM_000051.4(ATM):c.2426C>A (p.Ser809Ter)

SNV
Germline

Chr11:108259035

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Ataxia-telangiectasia syndrome
Malignant tumor of breast
Familial cancer of breast
Familial colorectal cancer type X

Criteria Provided
Multiple Submitters
No Conflicts

CA197946

rs_730881348

9 SubmittersRCV000167295 RCV000235751 RCV000457197 RCV003114318 RCV003468805 RCV005365096

NM_000051.4(ATM):c.2492A>G (p.Asp831Gly)

SNV
Germline

Chr11:108267196

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA196932

rs_587781352

10 SubmittersRCV000166878 RCV000474811 RCV000478109 RCV002498828 RCV003315416

NM_000051.4(ATM):c.2519A>T (p.Asp840Val)

SNV
Germline

Chr11:108267223

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided
Breast and/or ovarian cancer
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA193546

rs_786202605

11 SubmittersRCV000165495 RCV000459754 RCV000679104 RCV003150023 RCV003468746

NM_000051.4(ATM):c.2522A>C (p.Asp841Ala)

SNV
Germline

Chr11:108267226

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast
Ataxia-telangiectasia syndrome
Condition: not provided
Breast and/or ovarian cancer
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA189280

rs_587781812

13 SubmittersRCV000163825 RCV000205271 RCV000515444 RCV000589287 RCV003492681 RCV005359443

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.2606C>T (p.Ala869Val)

SNV
Germline

Chr11:108267310

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA195312

rs_145513717

11 SubmittersRCV000166230 RCV000225924 RCV000487118 RCV001844060 RCV003153451 RCV005042336

NM_000051.4(ATM):c.2615C>T (p.Pro872Leu)

SNV
Germline

Chr11:108267319

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA194919

rs_786202977

4 SubmittersRCV000166072 RCV000196727 RCV003468771

NM_000051.4(ATM):c.2778A>G (p.Lys926=)

SNV
Germline

Chr11:108268549

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided
ATM-related disorder
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA187843

rs_372569168

10 SubmittersRCV000163247 RCV000332678 RCV001706073 RCV004551389 RCV004589707

NM_000051.4(ATM):c.2789T>G (p.Leu930Ter)

SNV
Germline

Chr11:108268560

Pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast
Familial cancer of breast
Ataxia-telangiectasia syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA196179

rs_786203309

7 SubmittersRCV000166556 RCV000410598 RCV003462218 RCV005042339

NM_000051.4(ATM):c.2849T>G (p.Leu950Arg)

SNV
Germline

Chr11:108271074

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA195209

rs_786203054

10 SubmittersRCV000166191 RCV000255989 RCV000628016 RCV003483541 RCV003468776

NM_000051.4(ATM):c.2927T>C (p.Val976Ala)

SNV
Germline

Chr11:108271256

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided
not specified
Familial cancer of breast
Hereditary cancer
Familial colorectal cancer type X

Criteria Provided
Conflicting Classifications

CA196789

rs_146145357

12 SubmittersRCV000166813 RCV000230218 RCV000588819 RCV002271439 RCV003462227 RCV003491911 RCV005365090

NM_000051.4(ATM):c.2945G>A (p.Arg982His)

SNV
Germline

Chr11:108271274

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Ataxia-telangiectasia syndrome
not specified
Familial cancer of breast
ATM-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA190572

rs_749471737

16 SubmittersRCV000164299 RCV000235707 RCV000476746 RCV002247564 RCV003325192 RCV005359469

NM_000051.4(ATM):c.3137T>C (p.Leu1046Pro)

SNV
Germline

Chr11:108272591

Likely pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided
Familial cancer of breast
ATM-related cancer predisposition
Familial cancer of breast
Ataxia-telangiectasia syndrome

Reviewed By Expert Panel

CA195169

rs_568461905

14 SubmittersRCV000166173 RCV000667954 RCV001795288 RCV002221504 RCV005638456 RCV005042335

NM_000051.4(ATM):c.3349C>T (p.Gln1117Ter)

SNV
Germline

Chr11:108279555

Pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast
ATM-related cancer predisposition

Reviewed By Expert Panel

CA191131

rs_786201957

5 SubmittersRCV000164505 RCV000554388 RCV004019965 RCV005001009

NM_000051.4(ATM):c.3378A>G (p.Lys1126=)

SNV
Germline

Chr11:108279584

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided
Malignant tumor of breast
ATM-related disorder
Familial cancer of breast
not specified

Criteria Provided
Conflicting Classifications

CA191584

rs_149182949

14 SubmittersRCV000164706 RCV000206390 RCV000858786 RCV001357285 RCV004552894 RCV004589755 RCV006268641

NM_000051.4(ATM):c.3415G>C (p.Glu1139Gln)

SNV
Germline

Chr11:108281007

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA195191

rs_786203048

4 SubmittersRCV000166182 RCV001070498 RCV001762384 RCV004567297

NM_000051.4(ATM):c.3447T>C (p.Asn1149=)

SNV
Germline

Chr11:108281039

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA192470

rs_763473729

5 SubmittersRCV000165081 RCV001248472 RCV001704200 RCV004589764

NM_000051.4(ATM):c.3468G>A (p.Thr1156=)

SNV
Germline

Chr11:108281060

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
not specified
Condition: not provided
ATM-related disorder
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA186944

rs_148358896

14 SubmittersRCV000162776 RCV000198955 RCV000419306 RCV001721028 RCV004551381 RCV004589688

NM_000051.4(ATM):c.3588A>G (p.Lys1196=)

SNV
Germline

Chr11:108282721

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
not specified
Condition: not provided
ATM-related disorder
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA188209

rs_376524625

9 SubmittersRCV000163406 RCV000205348 RCV000779757 RCV001711328 RCV004551395 RCV004589710

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.3978C>A (p.Asn1326Lys)

SNV
Germline

Chr11:108284458

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA193830

rs_778123057

12 SubmittersRCV000165616 RCV000481947 RCV000472893 RCV002478509 RCV003114316 RCV003468748

NM_000051.4(ATM):c.4082A>G (p.Gln1361Arg)

SNV
Germline

Chr11:108287688

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided
not specified
Familial cancer of breast
ATM-related disorder
Familial colorectal cancer type X

Criteria Provided
Conflicting Classifications

CA191395

rs_141921797

15 SubmittersRCV000164614 RCV000167992 RCV000479421 RCV000780899 RCV003153441 RCV004739522 RCV005359484

NM_000051.4(ATM):c.4451T>C (p.Met1484Thr)

SNV
Germline

Chr11:108292633

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Ovarian cancer
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA197812

rs_786203785

6 SubmittersRCV000167238 RCV001212030 RCV003153456 RCV004567337

NM_000051.4(ATM):c.4492T>C (p.Leu1498=)

SNV
Germline

Chr11:108292674

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Ataxia-telangiectasia syndrome
not specified
Breast and/or ovarian cancer
ATM-related disorder
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA189119

rs_748949478

11 SubmittersRCV000163758 RCV000761806 RCV001085061 RCV002265641 RCV003492680 RCV004551410 RCV004589727

NM_000051.4(ATM):c.4665C>T (p.Leu1555=)

SNV
Germline

Chr11:108293366

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA188508

rs_374431061

8 SubmittersRCV000163519 RCV000330293 RCV000725936 RCV001081281 RCV004589714

NM_000051.4(ATM):c.4702C>T (p.His1568Tyr)

SNV
Germline

Chr11:108293403

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA192867

rs_753269143

7 SubmittersRCV000165250 RCV000531059 RCV002273966 RCV003468736 RCV004689637

NM_000051.4(ATM):c.4776G>C (p.Glu1592Asp)

SNV
Germline

Chr11:108293477

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA194897

rs_786202973

3 SubmittersRCV000166063 RCV000548784 RCV004786469

NM_000051.4(ATM):c.4814C>T (p.Ala1605Val)

SNV
Germline

Chr11:108294964

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA196897

rs_786203520

4 SubmittersRCV000166861 RCV000808496 RCV003991018

NM_000051.4(ATM):c.4852C>T (p.Arg1618Ter)

SNV
Germline/somatic

Chr11:108295002

Pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Ataxia-telangiectasia syndrome
Abnormal central motor function
Familial cancer of breast
Gastric cancer
ATM-related disorder
Familial cancer of breast
Ataxia-telangiectasia syndrome
Inherited breast cancer and ovarian cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA197013

rs_762083530

20 SubmittersRCV000166912 RCV000483137 RCV000525721 RCV001814077 RCV001808440 RCV003162714 RCV004739542 RCV005042342 RCV006450040

NM_000051.4(ATM):c.4853G>A (p.Arg1618Gln)

SNV
Germline

Chr11:108295003

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA190612

rs_765759912

12 SubmittersRCV000164315 RCV000228294 RCV000994709 RCV003474856 RCV005230006

NM_000051.4(ATM):c.4964C>A (p.Ser1655Tyr)

SNV
Germline

Chr11:108297341

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA187451

rs_786201215

8 SubmittersRCV000163104 RCV000486511 RCV000804749 RCV002228686 RCV002485008 RCV004589698

NM_000051.4(ATM):c.5352C>T (p.Asn1784=)

SNV
Germline

Chr11:108302885

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Ataxia-telangiectasia syndrome
not specified
ATM-related disorder
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA186379

rs_140641762

12 SubmittersRCV000162510 RCV000732576 RCV000988695 RCV004700498 RCV004551378 RCV004589675

NM_000051.4(ATM):c.5417T>C (p.Ile1806Thr)

SNV
Germline

Chr11:108302950

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided
Breast and/or ovarian cancer
Familial cancer of breast
not specified

Criteria Provided
Conflicting Classifications

CA194797

rs_773546064

8 SubmittersRCV000166025 RCV000232405 RCV001571325 RCV003491904 RCV003462197 RCV003493474

NM_000051.4(ATM):c.5497-2A>G

SNV
Germline

Chr11:108304673

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA197864

rs_786203796

8 SubmittersRCV000167256 RCV000627890 RCV003468802 RCV004719730

NM_000051.4(ATM):c.5917A>G (p.Arg1973Gly)

SNV
Germline

Chr11:108310314

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA191653

rs_786202089

8 SubmittersRCV000164728 RCV000227713 RCV000481261 RCV003468721

NM_000051.4(ATM):c.6006+1G>A

SNV
Germline

Chr11:108312499

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA191382

rs_786202016

3 SubmittersRCV000164608 RCV001215993 RCV004019966

NM_000051.4(ATM):c.6108T>C (p.Tyr2036=)

SNV
Germline

Chr11:108316023

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Ataxia-telangiectasia syndrome
Malignant tumor of breast
Condition: not provided
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA192745

rs_3092826

13 SubmittersRCV000165201 RCV000586950 RCV001085669 RCV001356445 RCV001528538 RCV004589768

NM_000051.4(ATM):c.6114C>T (p.His2038=)

SNV
Germline

Chr11:108316029

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Ataxia-telangiectasia syndrome
Malignant tumor of breast
Breast and/or ovarian cancer
Condition: not provided
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA198154

rs_774993357

11 SubmittersRCV000167380 RCV000438751 RCV000458818 RCV001355851 RCV001798601 RCV004546446 RCV004589824

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.6198+3A>G

SNV
Germline

Chr11:108316116

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Ataxia-telangiectasia syndrome
Familial cancer of breast
Malignant tumor of breast

Criteria Provided
Conflicting Classifications

CA191660

rs_786202092

8 SubmittersRCV000164733 RCV000486622 RCV000532401 RCV003462146 RCV005237618

NM_000051.4(ATM):c.6234C>T (p.Ser2078=)

SNV
Germline

Chr11:108317408

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Ataxia-telangiectasia syndrome
Breast and/or ovarian cancer
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA187719

rs_569483748

12 SubmittersRCV000163200 RCV000422005 RCV000726706 RCV001081503 RCV001798573 RCV004589705

NM_000051.4(ATM):c.6382T>C (p.Leu2128=)

SNV
Germline

Chr11:108319988

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
not specified
Condition: not provided
ATM-related disorder
Familial colorectal cancer type X
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA195413

rs_753646931

17 SubmittersRCV000166269 RCV000200503 RCV000432613 RCV003477627 RCV004552918 RCV005361009 RCV004589788

NM_000051.4(ATM):c.6465G>A (p.Val2155=)

SNV
Germline

Chr11:108321313

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA188290

rs_140423883

11 SubmittersRCV000163439 RCV000439900 RCV000679135 RCV001083758 RCV004589712

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.6860G>A (p.Gly2287Glu)

SNV
Germline

Chr11:108326110

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided
not specified
Malignant tumor of breast
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA190777

rs_1800061

17 SubmittersRCV000164364 RCV000234176 RCV000485783 RCV001201232 RCV001355759 RCV003467292

NM_000051.4(ATM):c.7004C>T (p.Thr2335Ile)

SNV
Germline

Chr11:108327673

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided
not specified
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
ATM-related disorder

Criteria Provided
Conflicting Classifications

CA196086

rs_3092831

17 SubmittersRCV000166521 RCV000168468 RCV000586878 RCV000855628 RCV003468785 RCV003483545 RCV004739536

NM_000051.4(ATM):c.7135C>G (p.Leu2379Val)

SNV
Germline

Chr11:108329066

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA194928

rs_778888033

13 SubmittersRCV000166076 RCV000236581 RCV000463701 RCV001257490 RCV002509268 RCV005042334

NM_000051.4(ATM):c.7157C>A (p.Ala2386Glu)

SNV
Germline

Chr11:108329088

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA197532

rs_786203697

4 SubmittersRCV000167115 RCV000487239 RCV000627922 RCV005042344

NM_000051.4(ATM):c.7174C>T (p.Arg2392Trp)

SNV
Germline

Chr11:108329105

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Malignant tumor of breast
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
ATM-related disorder
Familial cancer of breast
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

CA196089

rs_149827260

16 SubmittersRCV000168469 RCV000166522 RCV000590313 RCV000855629 RCV001356845 RCV003468786 RCV003483546 RCV004739537 RCV005049445

NM_000051.4(ATM):c.7235A>G (p.Asn2412Ser)

SNV
Germline

Chr11:108329166

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
Hereditary cancer

Criteria Provided
Conflicting Classifications

CA196193

rs_786203311

16 SubmittersRCV000166564 RCV000205986 RCV000235284 RCV000764942 RCV001358721 RCV003468787 RCV005230018

NM_000051.4(ATM):c.7289A>G (p.His2430Arg)

SNV
Germline

Chr11:108329220

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA194451

rs_786202856

7 SubmittersRCV000165890 RCV000458599 RCV001770130 RCV003153448 RCV004567287

NM_000051.4(ATM):c.7307G>A (p.Arg2436Lys)

SNV
Germline

Chr11:108329238

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast
Condition: not provided
ATM-related disorder

Criteria Provided
Conflicting Classifications

CA196452

rs_786203394

9 SubmittersRCV000166679 RCV000230377 RCV003338435 RCV004724961 RCV004739538

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.7359T>G (p.Arg2453=)

SNV
Germline

Chr11:108330265

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA189323

rs_786201541

6 SubmittersRCV000163843 RCV000195799 RCV001088026 RCV004589733

NM_000051.4(ATM):c.7375C>T (p.Arg2459Cys)

SNV
Germline

Chr11:108330281

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

Criteria Provided
Conflicting Classifications

CA193139

rs_730881383

18 SubmittersRCV000165342 RCV000197298 RCV000512906 RCV000764943 RCV001193059 RCV002288746 RCV003491896

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.7522G>A (p.Gly2508Arg)

SNV
Germline

Chr11:108331450

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Ataxia-telangiectasia syndrome
ATM-related disorder
not specified
Familial cancer of breast
Hereditary cancer

Criteria Provided
Conflicting Classifications

CA197186

rs_754395517

11 SubmittersRCV000166982 RCV000235394 RCV000461205 RCV004552929 RCV004800304 RCV004567324 RCV004698829

NM_000051.4(ATM):c.7542T>C (p.Tyr2514=)

SNV
Germline

Chr11:108331470

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Ataxia-telangiectasia syndrome
Condition: not provided
ATM-related disorder
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA197160

rs_777925486

10 SubmittersRCV000166968 RCV000430989 RCV000463235 RCV001711449 RCV004552928 RCV004589813

NM_000051.4(ATM):c.7593G>A (p.Met2531Ile)

SNV
Germline

Chr11:108331521

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA197744

rs_786203764

5 SubmittersRCV000167211 RCV000235970 RCV000684945 RCV004567334

NM_000051.4(ATM):c.7629+2T>C

SNV
Germline

Chr11:108331559

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA195221

rs_786203059

9 SubmittersRCV000166196 RCV000236019 RCV000697479 RCV000762828 RCV001171408

NM_000051.4(ATM):c.7816A>G (p.Ile2606Val)

SNV
Germline

Chr11:108332789

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided
not specified
Familial cancer of breast
Familial cancer of breast
Ataxia-telangiectasia syndrome
Uveal melanoma

Criteria Provided
Conflicting Classifications

CA196681

rs_376824528

16 SubmittersRCV000166765 RCV000197716 RCV000513206 RCV000625763 RCV002265647 RCV002485035 RCV005889632

NM_000051.4(ATM):c.7948G>A (p.Asp2650Asn)

SNV
Germline

Chr11:108333906

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA192109

rs_786202219

3 SubmittersRCV000164935 RCV002516471 RCV003468725

NM_000051.4(ATM):c.8293G>A (p.Gly2765Ser)

SNV
Germline

Chr11:108343246

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA194563

rs_748634900

7 SubmittersRCV000165932 RCV000200060 RCV003468762 RCV004821986

NM_000051.4(ATM):c.8556T>C (p.Tyr2852=)

SNV
Germline

Chr11:108345880

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA188843

rs_779394254

6 SubmittersRCV000163648 RCV000539465 RCV000612311 RCV002478499 RCV004589719

NM_000051.4(ATM):c.8596C>G (p.Leu2866Val)

SNV
Germline

Chr11:108347290

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
ATM-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA194948

rs_368666328

14 SubmittersRCV000168218 RCV000166084 RCV002272149 RCV003316050 RCV005359518

NM_000051.4(ATM):c.8711A>G (p.Glu2904Gly)

SNV
Germline

Chr11:108353805

Likely pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA194327

rs_786202826

6 SubmittersRCV000165842 RCV000230822 RCV000659280

NM_000051.4(ATM):c.8763G>A (p.Thr2921=)

SNV
Germline

Chr11:108353857

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA188268

rs_781528244

6 SubmittersRCV000163433 RCV000700345 RCV001651032 RCV004589711

NM_000051.4(ATM):c.8786+1G>C

SNV
Germline

Chr11:108353881

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA196631

rs_17174393

8 SubmittersRCV000166748 RCV000196816 RCV000254910 RCV003162711 RCV003468793

NM_000051.4(ATM):c.8786+1G>T

SNV
Germline

Chr11:108353881

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA189911

rs_17174393

11 SubmittersRCV000164050 RCV000540315 RCV001558979 RCV003467284 RCV002485015

NM_000051.4(ATM):c.8938C>A (p.Leu2980Ile)

SNV
Germline

Chr11:108365169

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA197606

rs_786203721

7 SubmittersRCV000167148 RCV000537024 RCV004567331 RCV004589818

NM_000051.4(ATM):c.8942A>G (p.His2981Arg)

SNV
Germline

Chr11:108365173

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA198131

rs_750441954

9 SubmittersRCV000167373 RCV000225919 RCV000486851 RCV001543124

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_000051.4(ATM):c.8983C>A (p.Leu2995Ile)

SNV
Germline

Chr11:108365214

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided
Familial cancer of breast
Ataxia-telangiectasia syndrome
Familial cancer of breast
Breast and/or ovarian cancer

Criteria Provided
Conflicting Classifications

CA190478

rs_142322668

11 SubmittersRCV000164264 RCV000313650 RCV000480659 RCV001535473 RCV002288730 RCV003491891

NM_000051.4(ATM):c.8987+1G>C

SNV
Germline

Chr11:108365219

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA197313

rs_786203631

3 SubmittersRCV000167026 RCV003500511 RCV004019994

NM_000051.4(ATM):c.8987+3G>A

SNV
Germline

Chr11:108365221

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
not specified
Condition: not provided
Familial ovarian cancer
ATM-related disorder
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA189127

rs_56360226

11 SubmittersRCV000163760 RCV000233461 RCV000318833 RCV000725914 RCV001357667 RCV004551411 RCV004589728

NM_000051.4(ATM):c.8988-2A>G

SNV
Germline

Chr11:108365323

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Ataxia-telangiectasia syndrome
Breast cancer, susceptibility to
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA191650

rs_786202087

7 SubmittersRCV000164726 RCV000627859 RCV001258066 RCV003468720

NM_000051.4(ATM):c.9045G>A (p.Glu3015=)

SNV
Germline

Chr11:108365382

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided
Familial cancer of breast
ATM-related disorder

Criteria Provided
Conflicting Classifications

CA196279

rs_786203336

8 SubmittersRCV000166602 RCV000459874 RCV001704222 RCV004589803 RCV004552924

NM_000051.4(ATM):c.9119T>C (p.Ile3040Thr)

SNV
Germline

Chr11:108365456

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA197338

rs_369870357

8 SubmittersRCV000167036 RCV000526903 RCV003156228 RCV005042343 RCV004567325

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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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_024675.4(PALB2):c.3545T>C (p.Val1182Ala)

SNV
Germline

Chr16:23603475

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA196999

rs_747149179

4 SubmittersRCV000166908 RCV000548591

NM_024675.4(PALB2):c.3433G>A (p.Gly1145Ser)

SNV
Germline

Chr16:23603587

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Malignant lymphoma, large B-cell, diffuse

Criteria Provided
Conflicting Classifications

CA193870

rs_180177137

6 SubmittersRCV000165631 RCV000798287 RCV004998336 RCV005889619

NM_024675.4(PALB2):c.3244A>G (p.Ser1082Gly)

SNV
Germline

Chr16:23607970

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group N
Familial cancer of breast
Pancreatic cancer, susceptibility to, 3
Condition: not provided

Criteria Provided
Conflicting Classifications

CA196312

rs_786203345

8 SubmittersRCV000166614 RCV000232382 RCV002505212 RCV004998351

NM_024675.4(PALB2):c.3114-5C>T

SNV
Germline

Chr16:23614096

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided

Criteria Provided
Conflicting Classifications

CA198420

rs_753307725

6 SubmittersRCV000167480 RCV000934763 RCV001775654

NM_024675.4(PALB2):c.2986G>T (p.Glu996Ter)

SNV
Germline

Chr16:23622979

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA197777

rs_786203775

7 SubmittersRCV000167226 RCV000227242 RCV000485825 RCV002271440

NM_024675.4(PALB2):c.2792T>G (p.Leu931Arg)

SNV
Germline

Chr16:23624051

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Malignant tumor of breast
not specified
Breast-ovarian cancer, familial, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA196017

rs_773831304

16 SubmittersRCV000166492 RCV000408812 RCV000483646 RCV001354782 RCV002298494 RCV003389046

NM_024675.4(PALB2):c.2782G>A (p.Val928Met)

SNV
Germline

Chr16:23624061

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA192592

rs_771288520

3 SubmittersRCV000165137 RCV002516474

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.2662A>T (p.Ile888Leu)

SNV
Germline

Chr16:23626322

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided

Criteria Provided
Conflicting Classifications

CA192991

rs_786202468

4 SubmittersRCV000165291 RCV000456550 RCV002284368

NM_024675.4(PALB2):c.2474G>C (p.Arg825Thr)

SNV
Germline

Chr16:23629680

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Familial cancer of breast
Endometrial carcinoma
Breast-ovarian cancer, familial, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA192462

rs_146218439

13 SubmittersRCV000165079 RCV000236812 RCV000780569 RCV001086620 RCV001256975 RCV005359498

NM_024675.4(PALB2):c.2453T>C (p.Phe818Ser)

SNV
Germline

Chr16:23629701

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Hereditary cancer

Criteria Provided
Conflicting Classifications

CA186194

rs_370908330

7 SubmittersRCV000162394 RCV000476189 RCV004589674 RCV005235052

NM_024675.4(PALB2):c.2356C>T (p.His786Tyr)

SNV
Germline

Chr16:23629798

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Familial cancer of breast
Fanconi anemia complementation group N
Pancreatic cancer, susceptibility to, 3
not specified

Criteria Provided
Conflicting Classifications

CA197222

rs_786203608

10 SubmittersRCV000166996 RCV000226421 RCV001566992 RCV002505215 RCV003321534

NM_024675.4(PALB2):c.2344C>T (p.Pro782Ser)

SNV
Germline

Chr16:23629810

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Malignant tumor of breast
not specified
Fanconi anemia complementation group N
Pancreatic cancer, susceptibility to, 3
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA196135

rs_786203296

11 SubmittersRCV000166543 RCV000470017 RCV000478256 RCV001355915 RCV003479039 RCV002492670

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.2277A>G (p.Gln759=)

SNV
Germline

Chr16:23629877

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
not specified
Fanconi anemia complementation group N
Breast and/or ovarian cancer
PALB2-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA193209

rs_786202524

12 SubmittersRCV000165372 RCV000472744 RCV000614133 RCV001119745 RCV003150021 RCV004535111 RCV006259112

NM_024675.4(PALB2):c.2228A>T (p.Tyr743Phe)

SNV
Germline

Chr16:23629926

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA191248

rs_141749524

2 SubmittersRCV000164551 RCV000698708

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.2134G>C (p.Ala712Pro)

SNV
Germline

Chr16:23630020

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group N
Familial cancer of breast
Pancreatic cancer, susceptibility to, 3

Criteria Provided
Conflicting Classifications

CA194955

rs_765942523

5 SubmittersRCV000166087 RCV000459199 RCV002485027

NM_024675.4(PALB2):c.2100A>T (p.Ser700=)

SNV
Germline

Chr16:23630054

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group N
not specified
Condition: not provided
PALB2-related disorder

Criteria Provided
Conflicting Classifications

CA190176

rs_757145884

10 SubmittersRCV000164155 RCV000200038 RCV000347505 RCV000611803 RCV001358505 RCV004539543

NM_024675.4(PALB2):c.2067G>A (p.Ser689=)

SNV
Germline

Chr16:23630087

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
not specified
Fanconi anemia complementation group N
Condition: not provided
Carcinoma of colon
PALB2-related disorder

Criteria Provided
Conflicting Classifications

CA193263

rs_371149159

16 SubmittersRCV000165391 RCV000197495 RCV000420216 RCV001119747 RCV001284030 RCV001356268 RCV004535112

NM_024675.4(PALB2):c.1958G>A (p.Cys653Tyr)

SNV
Germline

Chr16:23630196

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA198426

rs_771246748

3 SubmittersRCV000167483 RCV000456974

NM_024675.4(PALB2):c.1766C>T (p.Thr589Met)

SNV
Germline

Chr16:23630388

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
not specified
Carcinoma of colon
Malignant tumor of breast
PALB2-related disorder

Criteria Provided
Conflicting Classifications

CA198251

rs_773340677

11 SubmittersRCV000167418 RCV000474329 RCV000479496 RCV001175052 RCV001030258 RCV001357624 RCV004739545

NM_024675.4(PALB2):c.1748T>C (p.Leu583Ser)

SNV
Germline

Chr16:23630406

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA195224

rs_587782151

7 SubmittersRCV000166198 RCV000464125 RCV000996241 RCV005016500 RCV005230014

NM_024675.4(PALB2):c.1691A>G (p.Lys564Arg)

SNV
Germline

Chr16:23630463

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided

Criteria Provided
Conflicting Classifications

CA194670

rs_62625276

7 SubmittersRCV000165968 RCV000197146 RCV001030253

NM_024675.4(PALB2):c.1662A>G (p.Glu554=)

SNV
Germline

Chr16:23634884

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Breast and/or ovarian cancer
not specified

Criteria Provided
Conflicting Classifications

CA193865

rs_786202692

10 SubmittersRCV000165629 RCV000462332 RCV001567936 RCV003491900 RCV005889618

NM_024675.4(PALB2):c.1659C>G (p.His553Gln)

SNV
Germline

Chr16:23634887

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
not specified

Criteria Provided
Conflicting Classifications

CA196924

rs_370318597

4 SubmittersRCV000166875 RCV000547924 RCV001201201

NM_024675.4(PALB2):c.1599T>C (p.Thr533=)

SNV
Germline

Chr16:23634947

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group N
Condition: not provided
not specified
PALB2-related disorder
Familial pancreatic carcinoma

Criteria Provided
Conflicting Classifications

CA186523

rs_786201088

11 SubmittersRCV000162589 RCV000232866 RCV001121723 RCV001704155 RCV001818362 RCV004544477 RCV005359395

NM_024675.4(PALB2):c.1526G>A (p.Gly509Asp)

SNV
Germline

Chr16:23635020

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group N
Familial cancer of breast
Pancreatic cancer, susceptibility to, 3
not specified

Criteria Provided
Conflicting Classifications

CA195692

rs_786203176

5 SubmittersRCV000166375 RCV000458684 RCV000765273 RCV002228767

NM_024675.4(PALB2):c.1510G>A (p.Val504Ile)

SNV
Germline

Chr16:23635036

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA196712

rs_771846754

3 SubmittersRCV000166778 RCV000816945

NM_024675.4(PALB2):c.1454C>T (p.Thr485Ile)

SNV
Germline

Chr16:23635092

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
not specified
Carcinoma of colon

Criteria Provided
Conflicting Classifications

CA193882

rs_786202699

5 SubmittersRCV000165637 RCV000205126 RCV000507136 RCV001030228

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.1421G>A (p.Ser474Asn)

SNV
Germline

Chr16:23635125

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA190537

rs_786201806

7 SubmittersRCV000164284 RCV000235242 RCV000693357

NM_024675.4(PALB2):c.1408A>G (p.Thr470Ala)

SNV
Germline

Chr16:23635138

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
not specified
Inherited breast cancer and ovarian cancer
Breast-ovarian cancer, familial, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA191289

rs_150636811

10 SubmittersRCV000164567 RCV000480806 RCV000525404 RCV002265643 RCV005237616 RCV005359480

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.1252A>G (p.Asn418Asp)

SNV
Germline

Chr16:23635294

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Pancreatic cancer, susceptibility to, 3
Fanconi anemia complementation group N
Breast-ovarian cancer, familial, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA194782

rs_786202943

7 SubmittersRCV000166018 RCV000228629 RCV001775647 RCV005016498

NM_024675.4(PALB2):c.1123C>A (p.Leu375Ile)

SNV
Germline

Chr16:23635423

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
not specified
PALB2-related disorder

Criteria Provided
Conflicting Classifications

CA196837

rs_373298267

13 SubmittersRCV000166837 RCV000198293 RCV000236203 RCV001420780 RCV004545875

NM_024675.4(PALB2):c.1097A>G (p.Asn366Ser)

SNV
Germline

Chr16:23635449

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
PALB2-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA191737

rs_554849907

6 SubmittersRCV000164773 RCV000204324 RCV004535105 RCV005054172

NM_024675.4(PALB2):c.1093A>G (p.Arg365Gly)

SNV
Germline

Chr16:23635453

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Familial cancer of breast
Pancreatic cancer, susceptibility to, 3
Fanconi anemia complementation group N
Inherited breast cancer and ovarian cancer

Criteria Provided
Conflicting Classifications

CA191954

rs_773001248

9 SubmittersRCV000164864 RCV000205169 RCV000486708 RCV002485020 RCV006277727

NM_024675.4(PALB2):c.1030A>G (p.Asn344Asp)

SNV
Germline

Chr16:23635516

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided

Criteria Provided
Conflicting Classifications

CA194420

rs_786202850

4 SubmittersRCV000165880 RCV000230594 RCV004692776

NM_024675.4(PALB2):c.980G>A (p.Cys327Tyr)

SNV
Germline

Chr16:23635566

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided

Criteria Provided
Conflicting Classifications

CA193324

rs_786202550

5 SubmittersRCV000165411 RCV000460541 RCV001836740

NM_024675.4(PALB2):c.950C>T (p.Thr317Ile)

SNV
Germline

Chr16:23635596

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA191811

rs_45548638

8 SubmittersRCV000164806 RCV000200449 RCV000766544 RCV001357471

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_024675.4(PALB2):c.829G>A (p.Asp277Asn)

SNV
Germline

Chr16:23635717

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Carcinoma of colon
Fanconi anemia complementation group N

Criteria Provided
Conflicting Classifications

CA195935

rs_778309339

9 SubmittersRCV000166462 RCV000235601 RCV000477600 RCV001030179 RCV001336120

NM_024675.4(PALB2):c.813T>A (p.Ser271Arg)

SNV
Germline

Chr16:23635733

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA195966

rs_786203246

9 SubmittersRCV000166472 RCV000556676 RCV001193465 RCV001555224

NM_024675.4(PALB2):c.788A>G (p.Glu263Gly)

SNV
Germline

Chr16:23635758

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Pancreatic cancer, susceptibility to, 3
Fanconi anemia complementation group N
Breast-ovarian cancer, familial, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA192260

rs_745553724

8 SubmittersRCV000164996 RCV000233981 RCV000485489 RCV005016493

NM_024675.4(PALB2):c.739A>G (p.Thr247Ala)

SNV
Germline

Chr16:23635807

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group N
Pancreatic cancer, susceptibility to, 3
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA195172

rs_786203040

6 SubmittersRCV000166174 RCV000459460 RCV002485029

NM_024675.4(PALB2):c.637G>C (p.Val213Leu)

SNV
Germline

Chr16:23635909

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
not specified
Familial cancer of breast
Pancreatic cancer, susceptibility to, 3
Fanconi anemia complementation group N

Criteria Provided
Conflicting Classifications

CA198128

rs_786203875

5 SubmittersRCV000167372 RCV000635925 RCV001193467 RCV002485041

NM_024675.4(PALB2):c.495C>T (p.Gly165=)

SNV
Germline

Chr16:23636051

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Familial cancer of breast
Condition: not provided
Fanconi anemia complementation group N
Bile duct cancer

Criteria Provided
Conflicting Classifications

CA193911

rs_200937538

15 SubmittersRCV000165654 RCV000444952 RCV000532734 RCV000679773 RCV001119841 RCV001357741

NM_024675.4(PALB2):c.266A>G (p.Asp89Gly)

SNV
Germline

Chr16:23636280

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA190463

rs_786201790

2 SubmittersRCV000164258 RCV002517613

NM_024675.4(PALB2):c.101G>T (p.Arg34Leu)

SNV
Germline

Chr16:23638077

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Fanconi anemia complementation group N
Familial cancer of breast
Pancreatic cancer, susceptibility to, 3

Criteria Provided
Conflicting Classifications

CA196241

rs_144944814

9 SubmittersRCV000166587 RCV000456690 RCV000520497 RCV002498826

NM_024675.4(PALB2):c.100C>T (p.Arg34Cys)

SNV
Germline

Chr16:23638078

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
not specified
Inherited breast cancer and ovarian cancer

Criteria Provided
Conflicting Classifications

CA191499

rs_373483056

14 SubmittersRCV000164663 RCV000199940 RCV000236984 RCV002222417 RCV004808602

NM_024675.4(PALB2):c.36G>A (p.Glu12=)

SNV
Germline

Chr16:23641122

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided

Criteria Provided
Conflicting Classifications

CA192309

rs_760609798

6 SubmittersRCV000165018 RCV000476001 RCV004998329

NM_004360.5(CDH1):c.304G>T (p.Ala102Ser)

SNV
Germline

Chr16:68801810

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary diffuse gastric adenocarcinoma
not specified
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA198423

rs_368492235

7 SubmittersRCV000167482 RCV000479588 RCV000639246 RCV001818399 RCV003462244

NM_004360.5(CDH1):c.901G>A (p.Ala301Thr)

SNV
Germline

Chr16:68811752

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary diffuse gastric adenocarcinoma
Condition: not provided
Familial cancer of breast
not specified

Criteria Provided
Conflicting Classifications

CA191878

rs_749056300

11 SubmittersRCV000164825 RCV000409432 RCV001582648 RCV003462151 RCV006273596

NM_004360.5(CDH1):c.1171G>A (p.Val391Ile)

SNV
Germline

Chr16:68813346

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary diffuse gastric adenocarcinoma
Condition: not provided
6 conditions
Familial cancer of breast
not specified

Criteria Provided
Conflicting Classifications

CA189596

rs_556110297

15 SubmittersRCV000163940 RCV000409091 RCV000757068 RCV000765303 RCV001253170 RCV006273589

NM_004360.5(CDH1):c.1241C>A (p.Thr414Asn)

SNV
Germline

Chr16:68813416

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary diffuse gastric adenocarcinoma
Condition: not provided
not specified
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA190083

rs_755571454

9 SubmittersRCV000164120 RCV000466208 RCV000590115 RCV001260252 RCV004567236

NM_004360.5(CDH1):c.1315G>A (p.Ala439Thr)

SNV
Germline

Chr16:68813490

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary diffuse gastric adenocarcinoma
Condition: not provided
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA190565

rs_758764445

8 SubmittersRCV000164296 RCV000168147 RCV000218750 RCV003462129

NM_004360.5(CDH1):c.1711G>A (p.Gly571Ser)

SNV
Germline

Chr16:68819425

Likely pathogenic

Hereditary cancer-predisposing syndrome
Hereditary diffuse gastric adenocarcinoma
Familial cancer of breast
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA192333

rs_786202290

3 SubmittersRCV000165027 RCV001171459 RCV004760409

NM_004360.5(CDH1):c.1789C>A (p.Pro597Thr)

SNV
Germline

Chr16:68822078

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Hereditary diffuse gastric adenocarcinoma
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA195370

rs_201625049

5 SubmittersRCV000166250 RCV000506747 RCV001237470 RCV003462206

NM_004360.5(CDH1):c.1996A>C (p.Asn666His)

SNV
Germline

Chr16:68823458

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary diffuse gastric adenocarcinoma
Condition: not provided
not specified
Familial cancer of breast
Ovarian cancer

Criteria Provided
Conflicting Classifications

CA192499

rs_150427791

11 SubmittersRCV000165090 RCV000206535 RCV000679568 RCV001001975 RCV005359499

NM_004360.5(CDH1):c.2079C>T (p.Gly693=)

SNV
Germline

Chr16:68823541

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary diffuse gastric adenocarcinoma
not specified
Condition: not provided
CDH1-related disorder
Familial cancer of breast
Ovarian cancer

Criteria Provided
Conflicting Classifications

CA189603

rs_771993728

10 SubmittersRCV000163943 RCV000352740 RCV000505950 RCV000827333 RCV003907512 RCV005359453

NM_004360.5(CDH1):c.2261A>G (p.Tyr754Cys)

SNV
Germline

Chr16:68828270

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary diffuse gastric adenocarcinoma
Condition: not provided
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA193357

rs_767613429

10 SubmittersRCV000165420 RCV000411136 RCV000485531 RCV004567271

NM_004360.5(CDH1):c.2359G>A (p.Val787Ile)

SNV
Germline

Chr16:68829717

Conflicting classifications of pathogenicity

Hereditary diffuse gastric adenocarcinoma
Hereditary cancer-predisposing syndrome
Malignant tumor of breast
Condition: not provided
Familial cancer of breast
not specified

Criteria Provided
Conflicting Classifications

CA194701

rs_766270336

12 SubmittersRCV000168317 RCV000165982 RCV001358013 RCV003159106 RCV003462195 RCV004596090

NM_004360.5(CDH1):c.2371C>T (p.Leu791Phe)

SNV
Germline

Chr16:68829729

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary diffuse gastric adenocarcinoma
Condition: not provided
6 conditions
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA193525

rs_786202598

10 SubmittersRCV000165485 RCV000205557 RCV001355113 RCV002492661 RCV003462174

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.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.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.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.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.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.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.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_032043.3(BRIP1):c.3605A>G (p.Glu1202Gly)

SNV
Germline

Chr17:61683441

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Fanconi anemia complementation group J
Familial cancer of breast
BRIP1-related disorder

Criteria Provided
Conflicting Classifications

CA194566

rs_776010326

6 SubmittersRCV000165933 RCV000214877 RCV000233466 RCV003230428 RCV004535122

NM_032043.3(BRIP1):c.3571A>G (p.Ile1191Val)

SNV
Germline

Chr17:61683475

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Fanconi anemia complementation group J
not specified
Breast and/or ovarian cancer
Familial cancer of breast
Familial ovarian cancer
Fanconi anemia complementation group J
Ovarian cancer

Criteria Provided
Conflicting Classifications

CA196415

rs_761405340

13 SubmittersRCV000166662 RCV000219026 RCV000198324 RCV000781167 RCV001798598 RCV003316056 RCV005600792 RCV005430253

NM_032043.3(BRIP1):c.3567T>C (p.Asp1189=)

SNV
Germline

Chr17:61683479

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA191229

rs_764848326

10 SubmittersRCV000164542 RCV000432753 RCV000472623 RCV000989973 RCV001124767 RCV001704197 RCV004535101

NM_032043.3(BRIP1):c.3260A>G (p.Asn1087Ser)

SNV
Germline

Chr17:61683786

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group J
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA191419

rs_786202024

6 SubmittersRCV000164623 RCV000551876 RCV003237749 RCV006452463

NM_032043.3(BRIP1):c.3232A>T (p.Lys1078Ter)

SNV
Germline

Chr17:61683814

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group J

Criteria Provided
Conflicting Classifications

CA194731

rs_786202927

2 SubmittersRCV000165998 RCV001850330

NM_032043.3(BRIP1):c.3096T>G (p.Ser1032Arg)

SNV
Germline

Chr17:61683950

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group J
Condition: not provided
Familial cancer of breast
Fanconi anemia complementation group J
not specified
Familial cancer of breast
BRIP1-related disorder
Ovarian cancer

Criteria Provided
Conflicting Classifications

CA190983

rs_763162379

8 SubmittersRCV000164450 RCV000412033 RCV000520126 RCV000636160 RCV002247565 RCV003316022 RCV004528910 RCV005430236

NM_032043.3(BRIP1):c.3050C>T (p.Pro1017Leu)

SNV
Germline

Chr17:61683996

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group J
Condition: not provided
Familial cancer of breast
not specified
Fanconi anemia complementation group J
Ovarian cancer

Criteria Provided
Conflicting Classifications

CA194343

rs_747907706

11 SubmittersRCV000165849 RCV000231204 RCV000586787 RCV001262876 RCV001549276 RCV005430246

NM_032043.3(BRIP1):c.2914G>A (p.Val972Ile)

SNV
Germline

Chr17:61684132

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group J
Familial cancer of breast
Ovarian cancer
Fanconi anemia complementation group J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA195885

rs_786203224

7 SubmittersRCV000166442 RCV000472014 RCV000989986 RCV005430252 RCV002259316

NM_032043.3(BRIP1):c.2893A>C (p.Arg965=)

SNV
Germline

Chr17:61685848

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Fanconi anemia complementation group J
not specified
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA186604

rs_113697814

6 SubmittersRCV000162637 RCV000300079 RCV001078734 RCV001358720 RCV004791286

NM_032043.3(BRIP1):c.2885T>C (p.Ile962Thr)

SNV
Germline

Chr17:61685856

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group J
not specified
Familial cancer of breast
BRIP1-related disorder
Condition: not provided
Fanconi anemia complementation group J
Ovarian cancer

Criteria Provided
Conflicting Classifications

CA189776

rs_786201632

8 SubmittersRCV000164008 RCV000197368 RCV001797647 RCV003316014 RCV004732724 RCV005235065 RCV005430233

NM_032043.3(BRIP1):c.2873T>A (p.Leu958Gln)

SNV
Germline

Chr17:61685868

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group J
Condition: not provided
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA197020

rs_145859791

7 SubmittersRCV000166915 RCV000542669 RCV000588258 RCV003462229

NM_032043.3(BRIP1):c.2811T>C (p.Asp937=)

SNV
Germline

Chr17:61685930

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group J
Fanconi anemia complementation group J
not specified
Breast and/or ovarian cancer
BRIP1-related disorder
Familial cancer of breast
Condition: not provided

Criteria Provided
Conflicting Classifications

CA187400

rs_374335608

14 SubmittersRCV000163081 RCV000233012 RCV000374312 RCV000440198 RCV003492667 RCV004535063 RCV004791288 RCV006259077

NM_032043.3(BRIP1):c.2723C>T (p.Thr908Ile)

SNV
Germline

Chr17:61686018

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Fanconi anemia complementation group J

Criteria Provided
Conflicting Classifications

CA190975

rs_786201919

5 SubmittersRCV000164448 RCV000586440 RCV000699974

NM_032043.3(BRIP1):c.2493-1G>C

SNV
Germline

Chr17:61693513

Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Gastric cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA196671

rs_786203451

3 SubmittersRCV000166762 RCV003335166 RCV003162712

NM_032043.3(BRIP1):c.2258-3A>G

SNV
Germline

Chr17:61743137

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group J
not specified
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA197042

rs_786203561

5 SubmittersRCV000166925 RCV000472114 RCV000506334 RCV003474883

NM_032043.3(BRIP1):c.2100A>G (p.Leu700=)

SNV
Germline

Chr17:61744589

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group J
Familial cancer of breast
Condition: not provided
BRIP1-related disorder

Criteria Provided
Conflicting Classifications

CA190604

rs_766047812

9 SubmittersRCV000164312 RCV000470869 RCV000990002 RCV001618320 RCV004535096

NM_032043.3(BRIP1):c.2097+1G>C

SNV
Germline

Chr17:61776400

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA194780

rs_786202941

7 SubmittersRCV000166016 RCV000690601 RCV002267914

NM_032043.3(BRIP1):c.1897A>C (p.Ile633Leu)

SNV
Germline

Chr17:61780299

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Fanconi anemia complementation group J
Familial cancer of breast
not specified

Criteria Provided
Conflicting Classifications

CA191781

rs_765314472

6 SubmittersRCV000164796 RCV000217145 RCV000457977 RCV000999642 RCV003493473

NM_032043.3(BRIP1):c.1831G>A (p.Val611Ile)

SNV
Germline

Chr17:61780365

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group J
Condition: not provided
Familial cancer of breast
Fanconi anemia complementation group J
Ovarian cancer

Criteria Provided
Conflicting Classifications

CA194306

rs_777741543

8 SubmittersRCV000165836 RCV000233742 RCV000480949 RCV003230262 RCV005430245

NM_032043.3(BRIP1):c.1552G>A (p.Val518Ile)

SNV
Germline

Chr17:61784346

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Familial cancer of breast
Fanconi anemia complementation group J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA190066

rs_786201701

7 SubmittersRCV000164112 RCV000439785 RCV000475560 RCV001356649

NM_032043.3(BRIP1):c.1474-3T>C

SNV
Germline

Chr17:61784427

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group J
not specified
Condition: not provided
Familial cancer of breast
Fanconi anemia complementation group J
Familial cancer of breast
BRIP1-related disorder
Fanconi anemia complementation group J
Ovarian cancer

Criteria Provided
Conflicting Classifications

CA192215

rs_552752779

14 SubmittersRCV000164980 RCV000348888 RCV000430204 RCV000589721 RCV001085989 RCV003316033 RCV004535106 RCV005430240

NM_032043.3(BRIP1):c.1005G>A (p.Trp335Ter)

SNV
Germline

Chr17:61801388

Pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA190545

rs_786201808

2 SubmittersRCV000164287 RCV003335156

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.689C>T (p.Ser230Leu)

SNV
Germline

Chr17:61808696

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Fanconi anemia complementation group J
Familial cancer of breast
Familial cancer of breast
Fanconi anemia complementation group J
not specified
Ovarian cancer

Criteria Provided
Conflicting Classifications

CA195418

rs_759031349

16 SubmittersRCV000166271 RCV000386668 RCV000411446 RCV000515765 RCV001086889 RCV001328338 RCV005430249

NM_032043.3(BRIP1):c.667C>T (p.Gln223Ter)

SNV
Germline

Chr17:61808718

Pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA190233

rs_786201733

3 SubmittersRCV000164174 RCV003335154 RCV003765019

NM_032043.3(BRIP1):c.638A>G (p.His213Arg)

SNV
Germline

Chr17:61808747

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA195347

rs_376760085

7 SubmittersRCV000166239 RCV000205783 RCV000217577 RCV001194200 RCV003462205 RCV004724959

NM_032043.3(BRIP1):c.550G>A (p.Asp184Asn)

SNV
Germline

Chr17:61847178

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA195893

rs_201047375

2 SubmittersRCV000166445 RCV000461927

NM_032043.3(BRIP1):c.537A>G (p.Glu179=)

SNV
Germline

Chr17:61847191

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group J
Condition: not provided
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA192432

rs_775509896

6 SubmittersRCV000165068 RCV000196641 RCV000524004 RCV004791295

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_032043.3(BRIP1):c.370A>C (p.Thr124Pro)

SNV
Germline

Chr17:61857067

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group J
Familial cancer of breast
not specified

Criteria Provided
Conflicting Classifications

CA192862

rs_45617634

4 SubmittersRCV000165248 RCV000460048 RCV002307422

NM_032043.3(BRIP1):c.349G>T (p.Glu117Ter)

SNV
Germline

Chr17:61857088

Pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA198178

rs_786203890

2 SubmittersRCV000167391 RCV003335172

NM_032043.3(BRIP1):c.249A>G (p.Gln83=)

SNV
Germline

Chr17:61857188

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Fanconi anemia complementation group J
BRIP1-related disorder
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA188832

rs_45528833

11 SubmittersRCV000163644 RCV000178374 RCV001084487 RCV004539533 RCV004786449

NM_032043.3(BRIP1):c.206-2A>G

SNV
Germline

Chr17:61857233

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Fanconi anemia complementation group J
Ovarian neoplasm
Fanconi anemia complementation group J
Familial cancer of breast
BRIP1-related disorder
Fanconi anemia complementation group J
Ovarian cancer

Criteria Provided
Conflicting Classifications

CA197546

rs_786203700

10 SubmittersRCV000167120 RCV000214974 RCV000526148 RCV001310101 RCV001781516 RCV003462235 RCV004732730 RCV005430255

NM_032043.3(BRIP1):c.1A>G (p.Met1Val)

SNV
Germline

Chr17:61861539

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
Genetic non-acquired premature ovarian failure
Ovarian cancer

Criteria Provided
Conflicting Classifications

CA197496

rs_764585550

8 SubmittersRCV000167101 RCV000410570 RCV000474167 RCV000484413 RCV002283462 RCV003153455

NM_000546.6(TP53):c.376-2A>G

SNV
Germline/somatic

Chr17:7675238

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Li-Fraumeni syndrome
Ovarian neoplasm
Gallbladder cancer
Li-Fraumeni syndrome 1
Malignant tumor of esophagus
Ovarian serous cystadenocarcinoma
Familial cancer of breast
Uterine corpus endometrial carcinoma
Neoplasm
Gastric cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA000146

rs_786202799

11 SubmittersRCV000165794 RCV000480344 RCV000554039 RCV000785343 RCV001374443 RCV002288750 RCV005889621 RCV005889623 RCV005889620 RCV005889624 RCV006273602 RCV005889622

NM_007194.4(CHEK2):c.1566C>T (p.Pro522=)

SNV
Germline

Chr22:28687963

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA187862

rs_202104749

4 SubmittersRCV000163254 RCV000507670 RCV003422056 RCV005246687

NM_007194.4(CHEK2):c.1499C>T (p.Ser500Phe)

SNV
Germline

Chr22:28689178

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
not specified

Criteria Provided
Conflicting Classifications

CA186920

rs_28909981

4 SubmittersRCV000162769 RCV001226286 RCV001420739

NM_007194.4(CHEK2):c.1392G>A (p.Lys464=)

SNV
Germline

Chr22:28694101

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided

Criteria Provided
Conflicting Classifications

CA186770

rs_764396738

5 SubmittersRCV000162701 RCV002516442 RCV006259075

NM_007194.4(CHEK2):c.1323C>T (p.Thr441=)

SNV
Germline

Chr22:28695179

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Familial cancer of breast
Condition: not provided

Criteria Provided
Conflicting Classifications

CA189468

rs_753839004

7 SubmittersRCV000163900 RCV000428627 RCV000461169 RCV004998314

NM_007194.4(CHEK2):c.1287G>A (p.Glu429=)

SNV
Germline

Chr22:28695215

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA187020

rs_758102180

10 SubmittersRCV000162813 RCV000410591 RCV000506278 RCV001706070

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.1214A>G (p.Asn405Ser)

SNV
Germline

Chr22:28695755

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
CHEK2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA193808

rs_369070738

8 SubmittersRCV000165608 RCV000585949 RCV000550320 RCV005414474

NM_007194.4(CHEK2):c.1011C>A (p.Tyr337Ter)

SNV
Germline

Chr22:28696985

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA191748

rs_760502479

8 SubmittersRCV000164779 RCV000424411 RCV000532130

NM_007194.4(CHEK2):c.683+1G>T

SNV
Germline

Chr22:28719394

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA197378

rs_786203650

9 SubmittersRCV000167053 RCV000204794 RCV000216702 RCV001358419

NM_007194.4(CHEK2):c.664A>G (p.Met222Val)

SNV
Germline

Chr22:28719414

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided

Criteria Provided
Conflicting Classifications

CA196742

rs_786203472

4 SubmittersRCV000166790 RCV000204804 RCV002273967

NM_007194.4(CHEK2):c.651A>G (p.Arg217=)

SNV
Germline

Chr22:28719427

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Familial cancer of breast
Condition: not provided

Criteria Provided
Conflicting Classifications

CA186957

rs_774245273

7 SubmittersRCV000162782 RCV000426763 RCV000475798 RCV001704158

NM_007194.4(CHEK2):c.593-1G>A

SNV
Germline

Chr22:28719486

Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA195907

rs_786203229

4 SubmittersRCV000166451 RCV001850343

NM_007194.4(CHEK2):c.580A>T (p.Ser194Cys)

SNV
Germline

Chr22:28724989

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided

Criteria Provided
Conflicting Classifications

CA195180

rs_786203042

6 SubmittersRCV000166176 RCV000461326 RCV001564596

NM_007194.4(CHEK2):c.573G>C (p.Leu191=)

SNV
Germline

Chr22:28724996

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
CHEK2-related cancer predisposition
not specified

Criteria Provided
Conflicting Classifications

CA187712

rs_786201267

11 SubmittersRCV000163198 RCV000410420 RCV001721039 RCV005359412 RCV004767100

NM_007194.4(CHEK2):c.549G>C (p.Leu183Phe)

SNV
Germline

Chr22:28725020

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Breast and colorectal cancer, susceptibility to
Condition: not provided
Familial cancer of breast
Malignant tumor of breast
CHEK2-related disorder

Criteria Provided
Conflicting Classifications

CA190500

rs_745646057

13 SubmittersRCV000164270 RCV000210079 RCV000221179 RCV000459747 RCV001357576 RCV004535095

NM_007194.4(CHEK2):c.475T>C (p.Tyr159His)

SNV
Germline

Chr22:28725094

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
not specified
See cases
CHEK2-related cancer predisposition
Familial prostate cancer
Bone osteosarcoma

Criteria Provided
Conflicting Classifications

CA193390

rs_781254437

12 SubmittersRCV000165429 RCV000206006 RCV000658932 RCV001175503 RCV001537852 RCV005025260

NM_007194.4(CHEK2):c.278G>A (p.Trp93Ter)

SNV
Germline

Chr22:28734444

Pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast
CHEK2-related cancer predisposition

Criteria Provided
Multiple Submitters
No Conflicts

CA198177

rs_786203889

4 SubmittersRCV000167390 RCV000635868 RCV005361038

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_007194.4(CHEK2):c.3G>A (p.Met1Ile)

SNV
Germline

Chr22:28734719

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA198495

rs_786203977

7 SubmittersRCV000167514 RCV000487390 RCV000990400

NM_000051.4(ATM):c.72+1G>A

SNV
Germline

Chr11:108227697

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA334106

rs_786204088

8 SubmittersRCV000167987 RCV000777649 RCV001564314 RCV004019999

NM_000051.4(ATM):c.134G>A (p.Arg45Gln)

SNV
Germline

Chr11:108227837

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA334193

rs_762382111

7 SubmittersRCV000168047 RCV000217445 RCV000235357 RCV003468822 RCV004586586

NM_000051.4(ATM):c.902G>A (p.Gly301Asp)

SNV
Germline

Chr11:108246964

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Malignant tumor of breast
not specified
Familial cancer of breast
Familial cancer of breast
Ataxia-telangiectasia syndrome
Familial cancer of breast
Ataxia-telangiectasia syndrome
Pancreatic cancer, susceptibility to

Criteria Provided
Conflicting Classifications

CA334716

rs_202208861

29 SubmittersRCV000168392 RCV000221865 RCV000585382 RCV001355167 RCV001818406 RCV001762393 RCV002485047 RCV005863013

NM_000051.4(ATM):c.928A>G (p.Ser310Gly)

SNV
Germline

Chr11:108246990

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA334063

rs_745773225

10 SubmittersRCV000167964 RCV000219840 RCV000481289 RCV003338436

NM_000051.4(ATM):c.2921+1G>C

SNV
Germline

Chr11:108271147

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA334038

rs_587781558

8 SubmittersRCV000167947 RCV000217319 RCV000236109 RCV003468819

NM_000051.4(ATM):c.3295G>A (p.Asp1099Asn)

SNV
Germline

Chr11:108279501

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Malignant tumor of breast
not specified
Familial cancer of breast
ATM-related disorder

Criteria Provided
Conflicting Classifications

CA334286

rs_372966951

13 SubmittersRCV000168114 RCV000214286 RCV000590021 RCV001354999 RCV001731417 RCV003462257 RCV004739548

NM_000051.4(ATM):c.4304A>C (p.Lys1435Thr)

SNV
Germline

Chr11:108289669

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA334280

rs_769980220

10 SubmittersRCV000168111 RCV000220668 RCV000478130 RCV000780906 RCV003468825

NM_000051.4(ATM):c.5612C>T (p.Thr1871Ile)

SNV
Germline

Chr11:108304790

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA334655

rs_538452060

13 SubmittersRCV000168364 RCV000236794 RCV000221360 RCV003468831 RCV004689646

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.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_024675.4(PALB2):c.3106G>C (p.Val1036Leu)

SNV
Germline

Chr16:23621369

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
Carcinoma of colon
not specified
Fanconi anemia complementation group N
Familial cancer of breast
Pancreatic cancer, susceptibility to, 3

Criteria Provided
Conflicting Classifications

CA334122

rs_756906403

12 SubmittersRCV000168000 RCV000216674 RCV000479177 RCV001030381 RCV001731498 RCV002485044

NM_024675.4(PALB2):c.2835-1G>A

SNV
Germline

Chr16:23623131

Pathogenic/Likely pathogenic

Familial cancer of breast
Condition: not provided
Hereditary cancer-predisposing syndrome
PALB2-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA334206

rs_515726099

6 SubmittersRCV000168057 RCV000255033 RCV000454148 RCV004528920

NM_024675.4(PALB2):c.1659C>A (p.His553Gln)

SNV
Germline

Chr16:23634887

Conflicting classifications of pathogenicity

Familial cancer of breast
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA334554

rs_370318597

6 SubmittersRCV000168288 RCV000519942 RCV000582233

NM_024675.4(PALB2):c.1316G>T (p.Gly439Val)

SNV
Germline

Chr16:23635230

Conflicting classifications of pathogenicity

Familial cancer of breast
Condition: not provided
Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group N
Familial cancer of breast
Pancreatic cancer, susceptibility to, 3
not specified

Criteria Provided
Conflicting Classifications

CA334035

rs_537258442

13 SubmittersRCV000167944 RCV000588409 RCV000565232 RCV000765276 RCV001818401

NM_024675.4(PALB2):c.1115G>C (p.Ser372Thr)

SNV
Germline

Chr16:23635431

Conflicting classifications of pathogenicity

Familial cancer of breast
Fanconi anemia complementation group N
Familial cancer of breast
Pancreatic cancer, susceptibility to, 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA334752

rs_786204243

4 SubmittersRCV000168425 RCV000765277 RCV000774638

NM_024675.4(PALB2):c.1096A>G (p.Asn366Asp)

SNV
Germline

Chr16:23635450

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Inherited breast cancer and ovarian cancer

Criteria Provided
Conflicting Classifications

CA334083

rs_786204080

6 SubmittersRCV000167975 RCV000774639 RCV004808606

NM_024675.4(PALB2):c.85A>G (p.Ser29Gly)

SNV
Germline

Chr16:23638093

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA333979

rs_776110440

5 SubmittersRCV000167900 RCV000217631 RCV002262763

NM_004360.5(CDH1):c.1793G>A (p.Arg598Gln)

SNV
Germline

Chr16:68822082

Conflicting classifications of pathogenicity

Hereditary diffuse gastric adenocarcinoma
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
not specified

Criteria Provided
Conflicting Classifications

CA334368

rs_780759537

8 SubmittersRCV000168156 RCV000216786 RCV001565239 RCV003462259 RCV003479040

NM_032043.3(BRIP1):c.2447G>A (p.Trp816Ter)

SNV
Germline

Chr17:61715996

Pathogenic

Familial cancer of breast
Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA334772

rs_786204250

2 SubmittersRCV000168450 RCV001382996

NM_032043.3(BRIP1):c.617C>T (p.Ser206Leu)

SNV
Germline

Chr17:61847111

Conflicting classifications of pathogenicity

Familial cancer of breast
Fanconi anemia complementation group J
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Familial cancer of breast
Fanconi anemia complementation group J
Ovarian cancer

Criteria Provided
Conflicting Classifications

CA334612

rs_565458815

11 SubmittersRCV000168335 RCV000222015 RCV000506651 RCV001546767 RCV003316070 RCV005430257

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_000051.4(ATM):c.3G>A (p.Met1Ile)

SNV
Germline

Chr11:108227627

Pathogenic/Likely pathogenic

Ataxia-telangiectasia syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast
See cases

Criteria Provided
Multiple Submitters
No Conflicts

CA274099

rs_781404312

14 SubmittersRCV000169261 RCV000215466 RCV000223021 RCV004020015 RCV004797788

NM_000051.4(ATM):c.802C>T (p.Gln268Ter)

SNV
Germline

Chr11:108244927

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA274188

rs_557012154

11 SubmittersRCV000169336 RCV000222842 RCV000519059 RCV003468841 RCV005042354

NM_000051.4(ATM):c.5188C>T (p.Arg1730Ter)

SNV
Germline

Chr11:108301658

Pathogenic/Likely pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Gastric cancer
Familial cancer of breast
Malignant tumor of breast
Familial colorectal cancer type X

Criteria Provided
Multiple Submitters
No Conflicts

CA334791

rs_764389018

12 SubmittersRCV000169451 RCV000570483 RCV000657610 RCV003162723 RCV003468844 RCV005414322 RCV005361053

NM_000051.4(ATM):c.5515C>T (p.Gln1839Ter)

SNV
Germline

Chr11:108304693

Pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
ATM-related cancer predisposition

Reviewed By Expert Panel

CA274462

rs_786204751

11 SubmittersRCV000169605 RCV000777919 RCV001310117 RCV001579826 RCV005001013

NM_000051.4(ATM):c.5644C>T (p.Arg1882Ter)

SNV
Germline

Chr11:108304822

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA334788

rs_786204433

16 SubmittersRCV000169043 RCV000213135 RCV000235346 RCV003162721 RCV003129794 RCV004796061

NM_000051.4(ATM):c.8307G>A (p.Trp2769Ter)

SNV
Germline

Chr11:108343260

Pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
ATM-related cancer predisposition
Familial cancer of breast
Ataxia-telangiectasia syndrome
Inherited breast cancer and ovarian cancer

Reviewed By Expert Panel

CA334794

rs_778269655

15 SubmittersRCV000169516 RCV000579481 RCV001564923 RCV003468846 RCV005001012 RCV005042359 RCV005252786

NM_000053.4(ATP7B):c.3556+1G>A

SNV
Germline

Chr13:51941080

Pathogenic/Likely pathogenic

Wilson disease
Condition: not provided
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA274325

rs_184388696

10 SubmittersRCV000169452 RCV003159558 RCV005889646

NM_000053.4(ATP7B):c.1285+2T>A

SNV
Germline

Chr13:51973933

Pathogenic/Likely pathogenic

Wilson disease
Condition: not provided
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA274399

rs_759749626

9 SubmittersRCV000169532 RCV003480073 RCV005889648

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_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_000124.4(ERCC6):c.2924G>A (p.Arg975Gln)

SNV
Germline

Chr10:49472376

Conflicting classifications of pathogenicity

Condition: not provided
ERCC6-related disorder
Clear cell carcinoma of kidney
Uveal melanoma
Colon adenocarcinoma
Melanoma
Malignant tumor of esophagus
Familial cancer of breast
Ovarian serous cystadenocarcinoma
Malignant tumor of urinary bladder

Criteria Provided
Conflicting Classifications

CA240638

rs_145720191

10 SubmittersRCV000174989 RCV004537372 RCV005889797 RCV005889798 RCV005889794 RCV005889800 RCV005889796 RCV005889793 RCV005889799 RCV005889795

NM_004380.3(CREBBP):c.4133+4A>G

SNV
Germline

Chr16:3740395

Conflicting classifications of pathogenicity

not specified
Rubinstein-Taybi syndrome
Condition: not provided
Inborn genetic diseases
CREBBP-related disorder
Familial cancer of breast
Uterine corpus endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA201953

rs_372126168

7 SubmittersRCV000176481 RCV000951517 RCV001640269 RCV002326963 RCV003927626 RCV005889882 RCV005889883

NM_000088.4(COL1A1):c.1984-5C>A

SNV
Germline

Chr17:50192029

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Connective tissue disorder
Osteogenesis imperfecta type I
Infantile cortical hyperostosis
Osteogenesis imperfecta
Ehlers-Danlos syndrome, arthrochalasia type
Ehlers-Danlos syndrome
Cardiovascular phenotype
Ehlers-Danlos/osteogenesis imperfecta syndrome
COL1A1-related disorder
Clear cell carcinoma of kidney
Colon adenocarcinoma
Gastric cancer
Ovarian serous cystadenocarcinoma
Thymoma
Lung cancer
Familial cancer of breast
Cervical cancer

Criteria Provided
Conflicting Classifications

CA202470

rs_66592376

22 SubmittersRCV000177437 RCV000514224 RCV000659353 RCV000989945 RCV001127681 RCV001127682 RCV001125582 RCV002277393 RCV002415762 RCV003993859 RCV004552992 RCV005889926 RCV005889924 RCV005889927 RCV005889928 RCV005889929 RCV005889930 RCV005889923 RCV005889925

NM_001130438.3(SPTAN1):c.4580A>G (p.Asn1527Ser)

SNV
Germline

Chr9:128608962

Conflicting classifications of pathogenicity

Condition: not provided
Developmental and epileptic encephalopathy, 5
Inborn genetic diseases
SPTAN1-related disorder
Clear cell carcinoma of kidney
Colon adenocarcinoma
Gastric cancer
Thymoma
Melanoma
Familial cancer of breast
Early-infantile DEE

Criteria Provided
Conflicting Classifications

CA244765

rs_145038571

9 SubmittersRCV000713515 RCV001808453 RCV002314636 RCV004552999 RCV005889942 RCV005889941 RCV005889943 RCV005889944 RCV005889945 RCV005889940 RCV006461782

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_001384732.1(CPLANE1):c.8958+4A>C

SNV
Germline

Chr5:37125240

Conflicting classifications of pathogenicity

not specified
Joubert syndrome 17
Condition: not provided
Clear cell carcinoma of kidney
Melanoma
Malignant tumor of esophagus
CPLANE1-related disorder
Colon adenocarcinoma
Sarcoma
Gastric cancer
Ovarian serous cystadenocarcinoma
Intellectual disability
Nonpapillary renal cell carcinoma
Cervical cancer
Familial cancer of breast
Uveal melanoma
Thymoma
Malignant tumor of urinary bladder

Criteria Provided
Conflicting Classifications

CA245783

rs_199810663

11 SubmittersRCV000247706 RCV000321409 RCV000428354 RCV005891973 RCV005891979 RCV005891970 RCV003891741 RCV005891968 RCV005891975 RCV005891976 RCV005891977 RCV005621904 RCV005891971 RCV005891972 RCV005891967 RCV005891974 RCV005891978 RCV005891969

NM_005609.4(PYGM):c.660G>A (p.Gln220=)

SNV
Germline

Chr11:64757779

Conflicting classifications of pathogenicity

not specified
Glycogen storage disease, type V
Condition: not provided
Tip-toe gait
Malignant tumor of esophagus
Familial cancer of breast
PYGM-related disorder

Criteria Provided
Conflicting Classifications

CA246105

rs_142234258

20 SubmittersRCV000242887 RCV000374157 RCV000656957 RCV001813765 RCV005891988 RCV005891987 RCV005625383

NM_024675.4(PALB2):c.2505C>T (p.Ser835=)

SNV
Germline

Chr16:23629649

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA246241

rs_756502783

12 SubmittersRCV000575425 RCV000724499 RCV001085109 RCV001354928 RCV003321538

NM_000051.4(ATM):c.8518T>C (p.Leu2840=)

SNV
Germline

Chr11:108345842

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA246478

rs_794727769

5 SubmittersRCV000179200 RCV000563134 RCV001426526 RCV004589833

NM_006214.4(PHYH):c.678+5G>T

SNV
Germline

Chr10:13288355

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa
Phytanic acid storage disease
Retinal dystrophy
PHYH-related disorder
Phytanoyl-CoA hydroxylase deficiency
Colon adenocarcinoma
Thymoma
Sarcoma
Acute myeloid leukemia
not specified
Malignant tumor of esophagus
Nonpapillary renal cell carcinoma
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA246715

rs_201499815

13 SubmittersRCV000179461 RCV000504947 RCV000673770 RCV001075452 RCV003927682 RCV005361081 RCV005892024 RCV005892029 RCV005892028 RCV005892025 RCV006268652 RCV005892026 RCV005892027 RCV005892023

NM_000382.3(ALDH3A2):c.1108-3C>T

SNV
Germline

Chr17:19664945

Conflicting classifications of pathogenicity

Condition: not provided
Sjögren-Larsson syndrome
ALDH3A2-related disorder
Familial cancer of breast
Gastric cancer

Criteria Provided
Conflicting Classifications

CA247526

rs_148944691

5 SubmittersRCV000180151 RCV001833094 RCV003967442 RCV005892056 RCV005892057

NM_000235.4(LIPA):c.894G>A (p.Gln298=)

SNV
Germline

Chr10:89222511

Pathogenic/Likely pathogenic

Lysosomal acid lipase deficiency
Condition: not provided
LIPA-related disorder
Wolman disease
Cholesteryl ester storage disease
Cardiovascular phenotype
Cholesteryl ester storage disease
Wolman disease
Acute myeloid leukemia
Hepatocellular carcinoma
Melanoma
Malignant tumor of urinary bladder
Lung cancer
Familial cancer of breast
Colorectal cancer
Ovarian serous cystadenocarcinoma

Criteria Provided
Multiple Submitters
No Conflicts

CA346907

rs_116928232

36 SubmittersRCV000185528 RCV000478829 RCV000778291 RCV001376623 RCV001823874 RCV002372140 RCV005003537 RCV005892122 RCV005892124 RCV005892127 RCV005892123 RCV005892128 RCV005892121 RCV005892125 RCV005892126

NM_003060.4(SLC22A5):c.1451G>T (p.Gly484Val)

SNV
Germline

Chr5:132393676

Conflicting classifications of pathogenicity

Condition: not provided
Renal carnitine transport defect
High myopia
not specified
SLC22A5-related disorder
Colorectal cancer
Ovarian serous cystadenocarcinoma
Colon adenocarcinoma
Gastric cancer
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA312956

rs_28383480

14 SubmittersRCV000186146 RCV000549976 RCV000785735 RCV002307436 RCV004754341 RCV005892150 RCV005892152 RCV005892149 RCV005892151 RCV005892148

NM_000255.4(MMUT):c.753+2T>A

SNV
Germline

Chr6:49457689

Pathogenic

Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
Methylmalonic acidemia
Condition: not provided
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA312780

rs_796052006

7 SubmittersRCV000672182 RCV000781610 RCV001852417 RCV005892141

NM_000158.4(GBE1):c.691+2T>C

SNV
Germline

Chr3:81648854

Pathogenic/Likely pathogenic

Glycogen storage disease, type IV
Condition: not provided
GBE1-related disorder
Adult polyglucosan body disease
Glycogen storage disease, type IV
Glycogen storage disease, type IV
Glycogen storage disease IV, classic hepatic
Glycogen storage disease
Adult polyglucosan body disease
Inborn genetic diseases
Acute myeloid leukemia
Familial cancer of breast
Sarcoma
Adrenocortical carcinoma, hereditary
Arthrogryposis syndrome
Dementia
Clear cell carcinoma of kidney
Familial pancreatic carcinoma

Criteria Provided
Multiple Submitters
No Conflicts

CA276004

rs_192044702

35 SubmittersRCV000190589 RCV000224184 RCV000368399 RCV000660553 RCV000706641 RCV001449661 RCV003388833 RCV004020302 RCV005892214 RCV005892213 RCV005892218 RCV005892215 RCV005621909 RCV005625419 RCV005892216 RCV005892217

NM_014236.4(GNPAT):c.555A>T (p.Ile185=)

SNV
Germline

Chr1:231262839

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Rhizomelic chondrodysplasia punctata type 2
Colon adenocarcinoma
Familial cancer of breast
Colorectal cancer
Thyroid cancer, nonmedullary, 1
Malignant tumor of esophagus
Cervical cancer

Criteria Provided
Conflicting Classifications

CA209454

rs_34613633

7 SubmittersRCV000194948 RCV000757338 RCV000999765 RCV005892295 RCV005892294 RCV005892298 RCV005892299 RCV005892296 RCV005892297

NM_004525.3(LRP2):c.4351G>T (p.Val1451Phe)

SNV
Germline

Chr2:169238246

Conflicting classifications of pathogenicity

not specified
Donnai-Barrow syndrome
Condition: not provided
LRP2-related disorder
Thyroid cancer, nonmedullary, 1
Lung cancer
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA208536

rs_146289506

9 SubmittersRCV000194393 RCV000366184 RCV000879518 RCV003927790 RCV005892322 RCV005892323 RCV005892321

NM_001377299.1(NDUFS2):c.968G>A (p.Arg323Gln)

SNV
Germline

Chr1:161210692

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Mitochondrial complex I deficiency, nuclear type 6
Mitochondrial complex I deficiency, nuclear type 1
NDUFS2-related disorder
Sarcoma
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA323026

rs_35086265

9 SubmittersRCV000198518 RCV000224386 RCV000986449 RCV001098905 RCV004757162 RCV005893532 RCV005893531

NM_000465.4(BARD1):c.2216A>G (p.Tyr739Cys)

SNV
Germline

Chr2:214728794

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA339298

rs_777013688

11 SubmittersRCV000200408 RCV000220244 RCV000392820 RCV006273625

NM_000465.4(BARD1):c.1060T>A (p.Ser354Thr)

SNV
Germline

Chr2:214780814

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Malignant tumor of breast
BARD1-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA337598

rs_863224670

8 SubmittersRCV000214176 RCV000198033 RCV001357819 RCV003401081 RCV003327379

NM_000465.4(BARD1):c.71C>G (p.Pro24Arg)

SNV
Germline

Chr2:214809499

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA336143

rs_863224674

7 SubmittersRCV000196061 RCV000219522 RCV003477670

NM_000051.4(ATM):c.140C>G (p.Ser47Ter)

SNV
Germline

Chr11:108227843

Pathogenic

Ataxia-telangiectasia syndrome
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA336635

rs_774185390

3 SubmittersRCV000196694 RCV003454496 RCV002390530

NM_000051.4(ATM):c.748C>T (p.Arg250Ter)

SNV
Germline

Chr11:108244873

Pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Malignant tumor of breast
Gastric cancer
Familial cancer of breast
ATM-related disorder
ATM-related cancer predisposition
Familial cancer of breast
Ataxia-telangiectasia syndrome

Reviewed By Expert Panel

CA336868

rs_772821016

19 SubmittersRCV000196975 RCV000216766 RCV000479464 RCV001328429 RCV003165463 RCV003468894 RCV004739586 RCV005001014 RCV005049473

NM_000051.4(ATM):c.1228G>A (p.Val410Met)

SNV
Germline

Chr11:108249095

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA337783

rs_863224555

8 SubmittersRCV000198295 RCV000234895 RCV001840315 RCV003462315

NM_000051.4(ATM):c.1943T>C (p.Val648Ala)

SNV
Germline

Chr11:108253858

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA335930

rs_141175037

8 SubmittersRCV000195774 RCV000221613 RCV000479071 RCV000780905 RCV003474956

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_000051.4(ATM):c.2480A>G (p.Lys827Arg)

SNV
Germline

Chr11:108267184

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA337420

rs_372230498

6 SubmittersRCV000197770 RCV000218054 RCV003462316

NM_000051.4(ATM):c.2838+9C>G

SNV
Germline

Chr11:108268618

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
ATM-related disorder

Criteria Provided
Conflicting Classifications

CA337973

rs_370160823

8 SubmittersRCV000198514 RCV000579471 RCV004589847 RCV004700594 RCV004553071

NM_000051.4(ATM):c.3153+9T>C

SNV
Germline

Chr11:108272616

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Breast and/or ovarian cancer
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA339555

rs_770464168

4 SubmittersRCV000200790 RCV000777898 RCV003150084 RCV004589850

NM_000051.4(ATM):c.3613C>T (p.Arg1205Cys)

SNV
Germline

Chr11:108282746

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA335899

rs_760928285

11 SubmittersRCV000195728 RCV000479830 RCV000562379 RCV001192418 RCV004786534

NM_000051.4(ATM):c.3843T>G (p.Ser1281Arg)

SNV
Germline

Chr11:108284323

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA338716

rs_863224565

6 SubmittersRCV000199552 RCV000567335 RCV001555609 RCV003462317

NM_000051.4(ATM):c.4109+6T>C

SNV
Germline

Chr11:108287721

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA336807

rs_368606937

11 SubmittersRCV000196920 RCV000588070 RCV000776097 RCV001530925 RCV004589864 RCV005396610

NM_000051.4(ATM):c.6007-5T>C

SNV
Germline

Chr11:108315818

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA338988

rs_863224294

4 SubmittersRCV000199950 RCV001175894 RCV004589854

NM_000051.4(ATM):c.6583C>T (p.His2195Tyr)

SNV
Germline

Chr11:108325320

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA337541

rs_780946471

8 SubmittersRCV000197918 RCV000564354 RCV002464143 RCV004567418

NM_000051.4(ATM):c.6845A>G (p.Asn2282Ser)

SNV
Germline

Chr11:108326095

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA339436

rs_863224579

6 SubmittersRCV000200616 RCV000567702 RCV001582694 RCV003468901 RCV005049474

NM_000051.4(ATM):c.6975+7T>A

SNV
Germline

Chr11:108326232

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA339515

rs_754834282

6 SubmittersRCV000200740 RCV000580211 RCV000609358 RCV004589859 RCV006259159

NM_000051.4(ATM):c.7240C>T (p.Gln2414Ter)

SNV
Germline/somatic

Chr11:108329171

Pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Ovarian serous cystadenocarcinoma
Neoplasm

Criteria Provided
Multiple Submitters
No Conflicts

CA339145

rs_863224462

5 SubmittersRCV000200187 RCV000492913 RCV004020459 RCV005893582 RCV006273621

NM_000051.4(ATM):c.7926A>C (p.Arg2642Ser)

SNV
Germline

Chr11:108332899

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA337507

rs_863224440

8 SubmittersRCV000197870 RCV000215938 RCV000420030 RCV001250432

NM_000051.4(ATM):c.7985T>A (p.Val2662Asp)

SNV
Germline

Chr11:108333943

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA339537

rs_863224463

10 SubmittersRCV000200768 RCV001176540 RCV003468895 RCV005641535

NM_000051.4(ATM):c.8959G>C (p.Asp2987His)

SNV
Germline

Chr11:108365190

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA338090

rs_863224582

4 SubmittersRCV000198659 RCV002444808 RCV003468903

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.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.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_024675.4(PALB2):c.3538A>G (p.Ile1180Val)

SNV
Germline

Chr16:23603482

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA335883

rs_863224788

10 SubmittersRCV000195715 RCV000216876 RCV000478251 RCV001251265 RCV002492923 RCV005396619

NM_024675.4(PALB2):c.3473A>G (p.His1158Arg)

SNV
Germline

Chr16:23603547

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Breast and/or ovarian cancer
PALB2-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA338566

rs_45505500

9 SubmittersRCV000199321 RCV000217762 RCV001798672 RCV004739589 RCV004998415

NM_024675.4(PALB2):c.3448C>T (p.Leu1150Phe)

SNV
Germline

Chr16:23603572

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA337664

rs_863224787

6 SubmittersRCV000198123 RCV000776376 RCV001284322

NM_024675.4(PALB2):c.3260G>A (p.Ser1087Asn)

SNV
Germline

Chr16:23607954

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA336127

rs_863224786

2 SubmittersRCV000196033 RCV001019497

NM_024675.4(PALB2):c.3202-9C>T

SNV
Germline

Chr16:23608021

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Pancreatic cancer, susceptibility to, 3
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA336806

rs_757444247

7 SubmittersRCV000196913 RCV000579396 RCV001354308 RCV001711353 RCV001818478

NM_024675.4(PALB2):c.3103A>G (p.Ile1035Val)

SNV
Germline

Chr16:23621372

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
Chordoma

Criteria Provided
Conflicting Classifications

CA336715

rs_863224783

10 SubmittersRCV000196785 RCV000220160 RCV001797063 RCV002266931

NM_024675.4(PALB2):c.2515-1G>C

SNV
Germline

Chr16:23629276

Pathogenic/Likely pathogenic

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 5

Criteria Provided
Multiple Submitters
No Conflicts

CA337588

rs_587776417

6 SubmittersRCV000198016 RCV000580827 RCV000985889 RCV005868088

NM_024675.4(PALB2):c.2506G>T (p.Val836Phe)

SNV
Germline

Chr16:23629648

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA335985

rs_536644825

5 SubmittersRCV000195841 RCV000584448 RCV001030312

NM_024675.4(PALB2):c.2360C>T (p.Thr787Ile)

SNV
Germline

Chr16:23629794

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
Carcinoma of colon
not specified

Criteria Provided
Conflicting Classifications

CA337312

rs_201042302

14 SubmittersRCV000197564 RCV000216753 RCV000236931 RCV001030299 RCV004586620

NM_024675.4(PALB2):c.2176C>T (p.Pro726Ser)

SNV
Germline

Chr16:23629978

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA337127

rs_566813395

6 SubmittersRCV000197340 RCV000569353 RCV001775663 RCV005361158

NM_024675.4(PALB2):c.2140G>A (p.Asp714Asn)

SNV
Germline

Chr16:23630014

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial pancreatic carcinoma

Criteria Provided
Conflicting Classifications

CA335668

rs_45537237

7 SubmittersRCV000195423 RCV000562225 RCV003223619 RCV005361157

NM_024675.4(PALB2):c.1337A>T (p.Asp446Val)

SNV
Germline

Chr16:23635209

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA339587

rs_146434474

12 SubmittersRCV000200861 RCV000255070 RCV000562823 RCV000761148 RCV001194137 RCV002492922 RCV004530198 RCV005600809

NM_024675.4(PALB2):c.985C>G (p.Leu329Val)

SNV
Germline

Chr16:23635561

Conflicting classifications of pathogenicity

Familial cancer of breast
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA336763

rs_863224792

3 SubmittersRCV000196873 RCV001030192 RCV005452958

NM_024675.4(PALB2):c.929G>A (p.Ser310Asn)

SNV
Germline

Chr16:23635617

Conflicting classifications of pathogenicity

Familial cancer of breast
Condition: not provided
Hereditary cancer-predisposing syndrome
not specified
PALB2-related disorder

Criteria Provided
Conflicting Classifications

CA336641

rs_370887726

9 SubmittersRCV000196709 RCV000480147 RCV000570793 RCV004689672 RCV004739590

NM_024675.4(PALB2):c.380A>G (p.His127Arg)

SNV
Germline

Chr16:23636166

Conflicting classifications of pathogenicity

Familial cancer of breast
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA338916

rs_863224789

6 SubmittersRCV000199860 RCV001030147 RCV001804936

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_032043.3(BRIP1):c.3080A>C (p.Glu1027Ala)

SNV
Germline

Chr17:61683966

Conflicting classifications of pathogenicity

Fanconi anemia complementation group J
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA335902

rs_863224804

2 SubmittersRCV001297341 RCV005305982

NM_032043.3(BRIP1):c.2800T>G (p.Phe934Val)

SNV
Germline

Chr17:61685941

Conflicting classifications of pathogenicity

Familial cancer of breast
Fanconi anemia complementation group J
Fanconi anemia complementation group J
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Ovarian cancer
not specified

Criteria Provided
Conflicting Classifications

CA339524

rs_863224801

9 SubmittersRCV000200748 RCV000408962 RCV000567218 RCV003316114 RCV004812306 RCV005430264 RCV005406940

NM_032043.3(BRIP1):c.1383T>G (p.Tyr461Ter)

SNV
Germline

Chr17:61793687

Pathogenic

Fanconi anemia complementation group J
Familial cancer of breast
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA336051

rs_587780875

3 SubmittersRCV000195948 RCV000657659 RCV002381683

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_032043.3(BRIP1):c.679C>G (p.Gln227Glu)

SNV
Germline

Chr17:61808706

Conflicting classifications of pathogenicity

Familial cancer of breast
Fanconi anemia complementation group J
Fanconi anemia complementation group J
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
not specified
Ovarian cancer

Criteria Provided
Conflicting Classifications

CA336231

rs_45459799

14 SubmittersRCV000196200 RCV000410552 RCV000564063 RCV001546249 RCV001762423 RCV002267935 RCV005430265

NM_032043.3(BRIP1):c.260G>C (p.Cys87Ser)

SNV
Germline

Chr17:61857177

Conflicting classifications of pathogenicity

Fanconi anemia complementation group J
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA336891

rs_863224800

2 SubmittersRCV001307947 RCV006362149

NM_032043.3(BRIP1):c.205+3A>G

SNV
Germline

Chr17:61859793

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group J

Criteria Provided
Conflicting Classifications

CA336991

rs_539329589

3 SubmittersRCV000583027 RCV001426470

NM_000546.6(TP53):c.584T>C (p.Ile195Thr)

SNV
Germline/somatic

Chr17:7674947

Pathogenic

Li-Fraumeni syndrome
Lung adenocarcinoma
Condition: not provided
Hereditary cancer-predisposing syndrome
Ovarian neoplasm
Breast and/or ovarian cancer
Li-Fraumeni syndrome 1
Adrenocortical carcinoma, hereditary
Familial cancer of breast
Li-Fraumeni syndrome 1
Neoplasm
TP53-related disorder
Astrocytoma IDH-mutant

Criteria Provided
Multiple Submitters
No Conflicts

CA002232

rs_760043106

17 SubmittersRCV000198789 RCV000421097 RCV000487386 RCV001024600 RCV000785324 RCV001271054 RCV002288812 RCV003474953 RCV005361139 RCV004668846 RCV004725053 RCV006253879

NM_007194.4(CHEK2):c.1586G>A (p.Gly529Asp)

SNV
Germline

Chr22:28687943

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA339590

rs_751653049

7 SubmittersRCV000200863 RCV000777665 RCV001564935 RCV001255545

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_007194.4(CHEK2):c.593-1G>T

SNV
Germline

Chr22:28719486

Pathogenic/Likely pathogenic

Familial cancer of breast
Hereditary cancer-predisposing syndrome
CHEK2-related cancer predisposition
Familial cancer of breast
Prostate cancer
Colorectal cancer
Bone osteosarcoma

Criteria Provided
Multiple Submitters
No Conflicts

CA336037

rs_786203229

9 SubmittersRCV000195929 RCV000566129 RCV002485316

NM_007194.4(CHEK2):c.1A>G (p.Met1Val)

SNV
Germline

Chr22:28734721

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA335740

rs_863224748

4 SubmittersRCV000195519 RCV000570536

NM_024675.4(PALB2):c.3073G>A (p.Ala1025Thr)

SNV
Germline

Chr16:23621402

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA277851

rs_746872839

12 SubmittersRCV000202108 RCV000213208 RCV000479987 RCV001174762 RCV001116750 RCV003491950 RCV005396622

NM_000251.3(MSH2):c.1276+2T>C

SNV
Germline

Chr2:47429943

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Familial cancer of breast
Uterine corpus endometrial carcinoma

Criteria Provided
Multiple Submitters
No Conflicts

CA027509

rs_267607953

12 SubmittersRCV000202216 RCV000460835 RCV000492023 RCV000576479 RCV005361164 RCV005893616

NM_015967.8(PTPN22):c.2250G>C (p.Lys750Asn)

SNV
Germline

Chr1:113829592

Conflicting classifications of pathogenicity

not specified
Condition: not provided
PTPN22-related disorder
Uterine corpus endometrial carcinoma
Lymphoma
Thymoma
Familial cancer of breast
Melanoma
Hepatocellular carcinoma
Malignant tumor of esophagus
Nonpapillary renal cell carcinoma
Clear cell carcinoma of kidney
Ovarian serous cystadenocarcinoma
Thyroid cancer, nonmedullary, 1
Lung cancer
Familial pancreatic carcinoma
Colon adenocarcinoma
Colorectal cancer
Sarcoma
Gastric cancer

Criteria Provided
Conflicting Classifications

CA249375

rs_56048322

5 SubmittersRCV000203173 RCV003407718 RCV004758670 RCV005893668 RCV005893662 RCV005893664 RCV005893652 RCV005893666 RCV005893654 RCV005893655 RCV005893656 RCV005893657 RCV005893663 RCV005893665 RCV005893667 RCV005893658 RCV005893653 RCV005893659 RCV005893660 RCV005893661

NM_024079.5(ALG8):c.96-6G>C

SNV
Germline

Chr11:78127442

Conflicting classifications of pathogenicity

not specified
ALG8 congenital disorder of glycosylation
Condition: not provided
Acute myeloid leukemia
Uterine corpus endometrial carcinoma
Familial cancer of breast
Clear cell carcinoma of kidney
Sarcoma
Uterine carcinosarcoma
Cervical cancer

Criteria Provided
Conflicting Classifications

CA249119

rs_199911532

6 SubmittersRCV000202922 RCV000547349 RCV003390947 RCV005893623 RCV005893628 RCV005893622 RCV005893625 RCV005893626 RCV005893627 RCV005893624

NM_000465.4(BARD1):c.2057A>G (p.His686Arg)

SNV
Germline

Chr2:214728953

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA348340

rs_864622380

7 SubmittersRCV000204083 RCV000220357 RCV000481119

NM_000465.4(BARD1):c.1904-2A>T

SNV
Germline

Chr2:214730510

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA350672

rs_864622239

3 SubmittersRCV000206670 RCV002408889

NM_000465.4(BARD1):c.1678A>G (p.Met560Val)

SNV
Germline

Chr2:214745854

Conflicting classifications of pathogenicity

Familial cancer of breast
Condition: not provided
Hereditary cancer-predisposing syndrome
BARD1-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA350148

rs_587780020

8 SubmittersRCV000206080 RCV000479722 RCV000771293 RCV005361181

NM_000465.4(BARD1):c.1601C>T (p.Thr534Ile)

SNV
Germline

Chr2:214752523

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
Ovarian cancer
BARD1-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA350610

rs_374293292

10 SubmittersRCV000206592 RCV000217210 RCV002469066 RCV003153479 RCV005600814

NM_000465.4(BARD1):c.1240A>T (p.Met414Leu)

SNV
Germline

Chr2:214780634

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA350391

rs_759601398

7 SubmittersRCV000206347 RCV000573295 RCV001192859 RCV002260630

NM_000465.4(BARD1):c.1077G>T (p.Leu359Phe)

SNV
Germline

Chr2:214780797

Conflicting classifications of pathogenicity

Familial cancer of breast
Ovarian cancer
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA348822

rs_864622283

3 SubmittersRCV000204604 RCV003153484 RCV002415866

NM_000465.4(BARD1):c.907G>C (p.Val303Leu)

SNV
Germline

Chr2:214780967

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA348824

rs_375048835

4 SubmittersRCV000204605 RCV002372201 RCV003477698

NM_000465.4(BARD1):c.684A>G (p.Glu228=)

SNV
Germline

Chr2:214781190

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided

Criteria Provided
Conflicting Classifications

CA350659

rs_780627045

5 SubmittersRCV000213234 RCV001088108 RCV006259181

NM_000465.4(BARD1):c.566C>T (p.Ala189Val)

SNV
Germline

Chr2:214781308

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
BARD1-related disorder

Criteria Provided
Conflicting Classifications

CA348210

rs_864622686

6 SubmittersRCV000203931 RCV000216695 RCV002271463 RCV004719757 RCV004739601

NM_000465.4(BARD1):c.293A>G (p.Asn98Ser)

SNV
Germline

Chr2:214792368

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA350831

rs_763707275

2 SubmittersRCV000206838 RCV003165488

NM_000251.3(MSH2):c.646-3T>C

SNV
Germline

Chr2:47412411

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Condition: not provided
Breast and/or ovarian cancer
MSH2-related disorder
not specified
Familial cancer of breast
Lynch syndrome

Criteria Provided
Conflicting Classifications

CA039878

rs_267607930

13 SubmittersRCV000203689 RCV000565426 RCV000662873 RCV001722122 RCV001798681 RCV004530227 RCV003235128 RCV005361183 RCV003997616

NM_000051.4(ATM):c.185+1G>A

SNV
Germline

Chr11:108227889

Likely pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA349320

rs_112805604

4 SubmittersRCV000205116 RCV002408894 RCV003468943

NM_000051.4(ATM):c.785T>A (p.Leu262Ter)

SNV
Germline

Chr11:108244910

Pathogenic/Likely pathogenic

Ataxia-telangiectasia syndrome
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA350365

rs_864622163

6 SubmittersRCV000206320 RCV003462368 RCV004948211

NM_000051.4(ATM):c.946T>C (p.Tyr316His)

SNV
Germline

Chr11:108247008

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA348479

rs_142317485

11 SubmittersRCV000204232 RCV000234905 RCV000486900 RCV001818502 RCV003468951

NM_000051.4(ATM):c.1369C>T (p.Arg457Ter)

SNV
Germline

Chr11:108250834

Pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast
Abnormal central motor function
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA349954

rs_749036865

11 SubmittersRCV000205849 RCV000493633 RCV000762813 RCV001814115 RCV003322602

NM_000051.4(ATM):c.1511A>G (p.Asn504Ser)

SNV
Germline

Chr11:108250976

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA349700

rs_56365018

7 SubmittersRCV000205555 RCV000218923 RCV001778794 RCV005365140

NM_000051.4(ATM):c.1584T>C (p.Thr528=)

SNV
Germline

Chr11:108251049

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA348353

rs_864622408

4 SubmittersRCV001012289 RCV001465734 RCV004589884

NM_000051.4(ATM):c.1607+1G>T

SNV
Germline

Chr11:108251073

Pathogenic

Ataxia-telangiectasia syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Ataxia-telangiectasia syndrome
Familial cancer of breast
ATM-related cancer predisposition

Reviewed By Expert Panel

CA348209

rs_772926890

11 SubmittersRCV000203930 RCV000235749 RCV000563715 RCV002221512 RCV005396649 RCV005638463

NM_000051.4(ATM):c.1688T>G (p.Met563Arg)

SNV
Germline

Chr11:108251917

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA349901

rs_750815208

8 SubmittersRCV000205789 RCV000575377 RCV002265684 RCV002286716 RCV005042439

NM_000051.4(ATM):c.2127T>G (p.Ile709Met)

SNV
Germline

Chr11:108256217

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA350788

rs_56252953

7 SubmittersRCV000206792 RCV000222064 RCV002243888 RCV003493501 RCV005049481

NM_000051.4(ATM):c.2386A>T (p.Asn796Tyr)

SNV
Germline

Chr11:108258995

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Familial colorectal cancer type X

Criteria Provided
Conflicting Classifications

CA350217

rs_201793499

8 SubmittersRCV000206155 RCV000563514 RCV000710666 RCV004567453 RCV005361174

NM_000051.4(ATM):c.2463T>G (p.Ser821Arg)

SNV
Germline

Chr11:108259072

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Malignant tumor of breast
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA349704

rs_864622412

4 SubmittersRCV000205560 RCV001358330 RCV002453740 RCV003468944

NM_000051.4(ATM):c.3077+1G>A

SNV
Germline

Chr11:108271407

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA350862

rs_192810283

5 SubmittersRCV000206879 RCV001018496 RCV001531757 RCV004020519

NM_000051.4(ATM):c.3284+1G>A

SNV
Germline

Chr11:108272853

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA350813

rs_864622129

8 SubmittersRCV000206819 RCV000220530 RCV000235974 RCV004020504

NM_000051.4(ATM):c.3489C>T (p.Ser1163=)

SNV
Germline

Chr11:108281081

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
not specified
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA350763

rs_864622097

5 SubmittersRCV000206758 RCV001020424 RCV003321543 RCV004589875

NM_000051.4(ATM):c.3601T>A (p.Phe1201Ile)

SNV
Germline

Chr11:108282734

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Ataxia-telangiectasia syndrome
Familial cancer of breast
Familial cancer of breast
ATM-related disorder

Criteria Provided
Conflicting Classifications

CA349153

rs_576884305

10 SubmittersRCV000204970 RCV000567287 RCV000726329 RCV002478738 RCV003462391 RCV004739600

NM_000051.4(ATM):c.3663G>A (p.Trp1221Ter)

SNV
Germline

Chr11:108282796

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA350108

rs_864622490

13 SubmittersRCV000206039 RCV000235543 RCV000563523 RCV002478731 RCV003468949

NM_000051.4(ATM):c.3993G>C (p.Gln1331His)

SNV
Germline

Chr11:108284473

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA350344

rs_863224566

5 SubmittersRCV000206293 RCV000221742 RCV000479019 RCV003468966

NM_000051.4(ATM):c.3994-159A>G

SNV
Germline

Chr11:108287441

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA349592

rs_864622543

5 SubmittersRCV000205430 RCV001021603 RCV004701272 RCV005396647

NM_000051.4(ATM):c.4588G>T (p.Glu1530Ter)

SNV
Germline

Chr11:108292770

Pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA349160

rs_864622479

4 SubmittersRCV000204978 RCV001022740 RCV004020529

NM_000051.4(ATM):c.5002C>T (p.Leu1668=)

SNV
Germline

Chr11:108297379

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Breast and/or ovarian cancer
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA350792

rs_747317946

11 SubmittersRCV000206796 RCV000565986 RCV001355666 RCV003491959 RCV004589891

NM_000051.4(ATM):c.5320-10T>C

SNV
Germline

Chr11:108302843

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
not specified
Hereditary cancer-predisposing syndrome
ATM-related disorder
Familial cancer of breast
Condition: not provided

Criteria Provided
Conflicting Classifications

CA350374

rs_864622731

7 SubmittersRCV000206328 RCV000439365 RCV000777916 RCV004547501 RCV004589901 RCV004998435

NM_000051.4(ATM):c.5375T>C (p.Ile1792Thr)

SNV
Germline

Chr11:108302908

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Malignant tumor of breast
Familial cancer of breast
Condition: not provided

Criteria Provided
Conflicting Classifications

CA350670

rs_776309355

7 SubmittersRCV000206668 RCV000566874 RCV001354647 RCV002288821 RCV004786540

NM_000051.4(ATM):c.6115G>A (p.Glu2039Lys)

SNV
Germline

Chr11:108316030

Pathogenic/Likely pathogenic

Ataxia-telangiectasia syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Breast and/or ovarian cancer
ATM-related disorder
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA348515

rs_864622251

11 SubmittersRCV000204272 RCV000255601 RCV000574550 RCV001270952 RCV004547473 RCV003334385

NM_000051.4(ATM):c.6198+5A>G

SNV
Germline

Chr11:108316118

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Familial cancer of breast
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

CA349713

rs_771047560

7 SubmittersRCV000205574 RCV000568174 RCV004589879 RCV005396634

NM_000051.4(ATM):c.6318T>C (p.Asn2106=)

SNV
Germline

Chr11:108317492

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA350275

rs_864622730

6 SubmittersRCV000206216 RCV000571280 RCV001561845 RCV004589900

NM_000051.4(ATM):c.6348-2A>G

SNV
Germline

Chr11:108319952

Likely pathogenic

Ataxia-telangiectasia syndrome
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA348351

rs_864622367

3 SubmittersRCV000204096 RCV004020520 RCV004948215

NM_000051.4(ATM):c.6503C>T (p.Ser2168Leu)

SNV
Germline

Chr11:108321351

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA350774

rs_200431631

13 SubmittersRCV000206774 RCV000216900 RCV000588892 RCV000763709 RCV001268980 RCV004567472

NM_000051.4(ATM):c.7566A>G (p.Gln2522=)

SNV
Germline

Chr11:108331494

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
not specified
Familial cancer of breast
Ataxia-telangiectasia syndrome
Familial cancer of breast
Hepatocellular carcinoma

Criteria Provided
Conflicting Classifications

CA350418

rs_775621333

10 SubmittersRCV000206378 RCV000483209 RCV000574825 RCV001193662 RCV004589890 RCV005042444 RCV005893704

NM_000051.4(ATM):c.7789-3T>G

SNV
Germline

Chr11:108332759

Pathogenic/Likely pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Breast and/or ovarian cancer
Familial cancer of breast
Condition: not provided
Gastric cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA350818

rs_864622185

14 SubmittersRCV000206828 RCV000562166 RCV001270955 RCV001310118 RCV003326373 RCV005893697

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_000051.4(ATM):c.8988-1G>A

SNV
Germline

Chr11:108365324

Pathogenic/Likely pathogenic

Ataxia-telangiectasia syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast
ATM-related cancer predisposition

Criteria Provided
Multiple Submitters
No Conflicts

CA348186

rs_730881386

15 SubmittersRCV000203896 RCV000440256 RCV000570351 RCV001171410 RCV006554495

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.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.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.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.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.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_001382430.1(AKT1):c.1394G>A (p.Arg465His)

SNV
Germline

Chr14:104770390

Conflicting classifications of pathogenicity

Cowden syndrome 6
Condition: not provided
Proteus syndrome
Colorectal cancer
Cowden syndrome 6
Ovarian cancer
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA349773

rs_113547523

4 SubmittersRCV000205643 RCV003237770 RCV005008148

NM_024675.4(PALB2):c.3350+1G>A

SNV
Germline

Chr16:23607863

Pathogenic/Likely pathogenic

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA348374

rs_864622192

4 SubmittersRCV000204129 RCV006406657

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_024675.4(PALB2):c.3271C>T (p.Gln1091Ter)

SNV
Germline

Chr16:23607943

Pathogenic/Likely pathogenic

Familial cancer of breast
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 5

Criteria Provided
Multiple Submitters
No Conflicts

CA350661

rs_864622138

5 SubmittersRCV000206656 RCV000708617 RCV004692825

NM_024675.4(PALB2):c.2834+2T>G

SNV
Germline

Chr16:23624007

Pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA349966

rs_864622481

1 SubmittersRCV000205865

NM_024675.4(PALB2):c.2561A>G (p.Asn854Ser)

SNV
Germline

Chr16:23629229

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA348183

rs_146455175

8 SubmittersRCV000203889 RCV000573572 RCV000679765

NM_024675.4(PALB2):c.1647C>A (p.His549Gln)

SNV
Germline

Chr16:23634899

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA348236

rs_747842085

12 SubmittersRCV000203956 RCV000219639 RCV000479905 RCV000766620 RCV001798683 RCV005396646

NM_024675.4(PALB2):c.1457A>T (p.Lys486Ile)

SNV
Germline

Chr16:23635089

Conflicting classifications of pathogenicity

Familial cancer of breast
not specified
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA349277

rs_864622291

4 SubmittersRCV000205091 RCV000780561 RCV001030229 RCV002390544

NM_024675.4(PALB2):c.761C>A (p.Ser254Ter)

SNV
Germline

Chr16:23635785

Pathogenic

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA350807

rs_864622695

2 SubmittersRCV000206812 RCV002390551

NM_024675.4(PALB2):c.508A>G (p.Arg170Gly)

SNV
Germline

Chr16:23636038

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA349481

rs_864622622

8 SubmittersRCV000205323 RCV000215139 RCV000484020 RCV003114369

NM_024675.4(PALB2):c.398G>T (p.Ser133Ile)

SNV
Germline

Chr16:23636148

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 5
Fanconi anemia complementation group N
Pancreatic cancer, susceptibility to, 3
Pancreatic cancer, susceptibility to, 3

Criteria Provided
Conflicting Classifications

CA348953

rs_864622411

5 SubmittersRCV000204748 RCV000575642 RCV005016566 RCV005361185

NM_024675.4(PALB2):c.226A>G (p.Ile76Val)

SNV
Germline

Chr16:23636320

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
Carcinoma of colon
not specified
Breast-ovarian cancer, familial, susceptibility to, 5
Fanconi anemia complementation group N
Pancreatic cancer, susceptibility to, 3

Criteria Provided
Conflicting Classifications

CA348162

rs_541028076

8 SubmittersRCV000203860 RCV000223229 RCV000590079 RCV001030134 RCV001526861 RCV005016565

NM_024675.4(PALB2):c.149A>C (p.Lys50Thr)

SNV
Germline

Chr16:23637912

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Malignant tumor of breast
Breast and/or ovarian cancer

Criteria Provided
Conflicting Classifications

CA349816

rs_763598472

13 SubmittersRCV000205692 RCV000221595 RCV000236334 RCV000656934 RCV001357513 RCV003491955

NM_024675.4(PALB2):c.109C>T (p.Arg37Cys)

SNV
Germline

Chr16:23637952

Conflicting classifications of pathogenicity

Familial cancer of breast
Condition: not provided
Hereditary cancer-predisposing syndrome
not specified
PALB2-related disorder

Criteria Provided
Conflicting Classifications

CA348301

rs_200048921

12 SubmittersRCV000204029 RCV000485666 RCV000561601 RCV002247634 RCV004530229

NM_004360.5(CDH1):c.251C>T (p.Thr84Ile)

SNV
Germline

Chr16:68801757

Conflicting classifications of pathogenicity

Hereditary diffuse gastric adenocarcinoma
Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA348746

rs_754388534

9 SubmittersRCV000204522 RCV000480914 RCV000569606 RCV003462364

NM_004360.5(CDH1):c.846G>A (p.Met282Ile)

SNV
Germline

Chr16:68811697

Conflicting classifications of pathogenicity

Hereditary diffuse gastric adenocarcinoma
Condition: not provided
Hereditary cancer-predisposing syndrome
Malignant tumor of breast
not specified
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA349115

rs_200932258

10 SubmittersRCV000204924 RCV000478288 RCV000572511 RCV001355763 RCV002282039 RCV003462374

NM_004360.5(CDH1):c.1303A>G (p.Ile435Val)

SNV
Germline

Chr16:68813478

Conflicting classifications of pathogenicity

Hereditary diffuse gastric adenocarcinoma
Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA348421

rs_864622644

7 SubmittersRCV000204180 RCV000519205 RCV000566585 RCV003462388

NM_004360.5(CDH1):c.2194C>T (p.Arg732Trp)

SNV
Germline

Chr16:68828203

Conflicting classifications of pathogenicity

Hereditary diffuse gastric adenocarcinoma
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA347994

rs_864622198

10 SubmittersRCV000203693 RCV000569039 RCV001795330 RCV002288823

NM_004360.5(CDH1):c.2602C>T (p.Arg868Cys)

SNV
Germline

Chr16:68833452

Conflicting classifications of pathogenicity

Hereditary diffuse gastric adenocarcinoma
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA349826

rs_864622630

11 SubmittersRCV000205707 RCV000217355 RCV000478079 RCV004567479

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_032043.3(BRIP1):c.3431A>G (p.Glu1144Gly)

SNV
Germline

Chr17:61683615

Conflicting classifications of pathogenicity

Familial cancer of breast
Fanconi anemia complementation group J
Fanconi anemia complementation group J
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Familial ovarian cancer
Ovarian cancer

Criteria Provided
Conflicting Classifications

CA350798

rs_774605759

11 SubmittersRCV000206799 RCV000411587 RCV000581063 RCV002466467 RCV003316132 RCV005361177 RCV005430268

NM_032043.3(BRIP1):c.3266C>G (p.Ser1089Cys)

SNV
Germline

Chr17:61683780

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA349425

rs_761278503

3 SubmittersRCV000568092 RCV001194752 RCV001369002

NM_032043.3(BRIP1):c.2801T>C (p.Phe934Ser)

SNV
Germline

Chr17:61685940

Conflicting classifications of pathogenicity

Familial cancer of breast
Fanconi anemia complementation group J
Fanconi anemia complementation group J
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA348966

rs_778916092

8 SubmittersRCV000204761 RCV000320950 RCV000221756 RCV001575907 RCV001192827 RCV005361171

NM_032043.3(BRIP1):c.1341-3C>G

SNV
Germline

Chr17:61793732

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group J
Fanconi anemia complementation group J
Familial cancer of breast
Condition: not provided

Criteria Provided
Conflicting Classifications

CA348725

rs_864622597

7 SubmittersRCV000204500 RCV000568412 RCV000709549 RCV001348527 RCV001753619

NM_032043.3(BRIP1):c.508-1G>C

SNV
Germline

Chr17:61847221

Pathogenic/Likely pathogenic

Familial cancer of breast
Fanconi anemia complementation group J
Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group J
Condition: not provided
Familial cancer of breast
Ovarian cancer
Fanconi anemia complementation group J

Criteria Provided
Multiple Submitters
No Conflicts

CA348058

rs_864622277

9 SubmittersRCV000203783 RCV000449088 RCV001781610 RCV003477682 RCV003316134 RCV005430269

NM_032043.3(BRIP1):c.293A>G (p.Asn98Ser)

SNV
Germline

Chr17:61857144

Conflicting classifications of pathogenicity

Familial cancer of breast
Fanconi anemia complementation group J
Condition: not provided
Hereditary cancer-predisposing syndrome
not specified

Criteria Provided
Conflicting Classifications

CA350472

rs_781121675

7 SubmittersRCV000206440 RCV000478530 RCV000567628 RCV004689675

NM_007194.4(CHEK2):c.908+6T>C

SNV
Germline

Chr22:28703499

Conflicting classifications of pathogenicity

Familial cancer of breast
not specified
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA349791

rs_748988275

7 SubmittersRCV000205660 RCV001818497 RCV001582708 RCV003584566

NM_007194.4(CHEK2):c.846+1G>C

SNV
Germline

Chr22:28710005

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
CHEK2-related cancer predisposition
Familial prostate cancer
Bone osteosarcoma
CHEK2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA350863

rs_864622149

15 SubmittersRCV000206880 RCV000218773 RCV000255179 RCV005396633 RCV005414478

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_007194.4(CHEK2):c.320-1G>C

SNV
Germline

Chr22:28725368

Likely pathogenic

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA348175

rs_864622613

2 SubmittersRCV000203880 RCV003165500

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_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_170707.4(LMNA):c.937-8C>A

SNV
Germline

Chr1:156135893

Conflicting classifications of pathogenicity

Primary dilated cardiomyopathy
Charcot-Marie-Tooth disease type 2
Cardiomyopathy
Lethal tight skin contracture syndrome
Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules
Congenital muscular dystrophy due to LMNA mutation
Dilated cardiomyopathy 1A
Emery-Dreifuss muscular dystrophy
Familial partial lipodystrophy, Dunnigan type
Hutchinson-Gilford syndrome
Charcot-Marie-Tooth disease type 2B1
Emery-Dreifuss muscular dystrophy 2, autosomal dominant
Mandibuloacral dysplasia with type A lipodystrophy
Condition: not provided
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA054885

rs_751707982

7 SubmittersRCV000207998 RCV000545586 RCV000777940 RCV001096749 RCV001096751 RCV001098487 RCV001096746 RCV001096747 RCV001096748 RCV001098486 RCV001096750 RCV001096752 RCV001098488 RCV001697242 RCV005893800

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.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_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_000051.4(ATM):c.-30-1G>T

SNV
Germline

Chr11:108227594

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Ataxia-telangiectasia syndrome
Familial cancer of breast
ATM-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA353500

rs_869312754

8 SubmittersRCV000210108 RCV000255796 RCV001171384 RCV002478758 RCV005361222

NM_000051.4(ATM):c.4735C>T (p.Gln1579Ter)

SNV
Germline

Chr11:108293436

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA353545

rs_869312755

10 SubmittersRCV000210197 RCV000234068 RCV000255389 RCV004020572

NM_000051.4(ATM):c.5762+1G>T

SNV
Germline

Chr11:108307985

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA353503

rs_869312756

9 SubmittersRCV000210115 RCV000229503 RCV003468971 RCV005243160 RCV005861082

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_032043.3(BRIP1):c.2576-2A>G

SNV
Germline

Chr17:61686167

Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group J
Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA353505

rs_869312763

6 SubmittersRCV000210117 RCV000796090 RCV001781630 RCV003335229

NM_032043.3(BRIP1):c.1340+5G>C

SNV
Germline

Chr17:61799095

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA353521

rs_869312791

5 SubmittersRCV000210143 RCV001070293 RCV003474990

NM_017909.4(RMND1):c.830+1G>A

SNV
Germline

Chr6:151427481

Pathogenic

Mitochondrial disease
Familial cancer of breast

No Assertion Criteria Provided

CA4050907

rs_773470671

2 SubmittersRCV000240838 RCV005893882

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_024675.4(PALB2):c.2755G>A (p.Val919Ile)

SNV
Germline

Chr16:23624088

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
Chordoma
not specified
Breast and/or ovarian cancer
Breast-ovarian cancer, familial, susceptibility to, 5
Pancreatic cancer, susceptibility to, 3
Fanconi anemia complementation group N

Criteria Provided
Conflicting Classifications

CA7963488

rs_775193384

10 SubmittersRCV000211057 RCV000454132 RCV000478723 RCV002266935 RCV002465567 RCV003150103 RCV005016571

NM_024675.4(PALB2):c.1478C>T (p.Pro493Leu)

SNV
Germline

Chr16:23635068

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Pilocytic astrocytoma
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7963704

rs_770965402

7 SubmittersRCV000211081 RCV000217376 RCV000761143 RCV001582721

NM_024675.4(PALB2):c.1194G>T (p.Val398=)

SNV
Germline

Chr16:23635352

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10576114

rs_61755173

5 SubmittersRCV000211072 RCV002336588 RCV004998437

NM_012144.4(DNAI1):c.47A>G (p.Gln16Arg)

SNV
Germline

Chr9:34459052

Conflicting classifications of pathogenicity

not specified
Primary ciliary dyskinesia
DNAI1-related disorder
Familial cancer of breast
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5033878

rs_148701985

6 SubmittersRCV000216654 RCV000458049 RCV003977620 RCV005895022 RCV005411376

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_006736.6(DNAJB2):c.230-2A>G

SNV
Germline

Chr2:219281937

Conflicting classifications of pathogenicity

Condition: not provided
Neuronopathy, distal hereditary motor, autosomal recessive 5
Neuronopathy, distal hereditary motor, autosomal recessive 5
Charcot-Marie-Tooth disease type 2
Inborn genetic diseases
Cervical cancer
Thyroid cancer, nonmedullary, 1
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA2122889

rs_369661561

9 SubmittersRCV000214459 RCV000545700 RCV001535597 RCV002444871 RCV005895077 RCV005895078 RCV005895076

NM_000051.4(ATM):c.799A>G (p.Thr267Ala)

SNV
Germline

Chr11:108244924

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10577424

rs_876660962

7 SubmittersRCV000214811 RCV000567197 RCV000818514 RCV002503873

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_000051.4(ATM):c.3257G>A (p.Arg1086His)

SNV
Germline

Chr11:108272825

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6265234

rs_769857066

11 SubmittersRCV000213977 RCV000234243 RCV000575194 RCV002485436 RCV003463608 RCV003338472

NM_000051.4(ATM):c.3478G>C (p.Val1160Leu)

SNV
Germline

Chr11:108281070

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6265298

rs_567344545

6 SubmittersRCV000218210 RCV000221290 RCV000474968 RCV000780901 RCV002288862

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.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.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.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.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.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_004360.5(CDH1):c.1679C>G (p.Thr560Arg)

SNV
Germline

Chr16:68819393

Pathogenic

not specified
Hereditary cancer-predisposing syndrome
Hereditary diffuse gastric adenocarcinoma
Gastric cancer
CDH1-related diffuse gastric and lobular breast cancer syndrome
Familial cancer of breast
Condition: not provided

Reviewed By Expert Panel

CA10577547

rs_746481984

11 SubmittersRCV000219965 RCV000492731 RCV000678243 RCV003165581 RCV003328295 RCV003463612 RCV003477778

NM_032043.3(BRIP1):c.2994G>C (p.Lys998Asn)

SNV
Germline

Chr17:61684052

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group J
Familial cancer of breast
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA8690414

rs_757225144

6 SubmittersRCV000217097 RCV000220971 RCV000544259 RCV000989984

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_032043.3(BRIP1):c.1760A>T (p.His587Leu)

SNV
Germline

Chr17:61780874

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group J
not specified
Familial cancer of breast
Fanconi anemia complementation group J
Ovarian cancer

Criteria Provided
Conflicting Classifications

CA10577562

rs_876660646

9 SubmittersRCV000219246 RCV000216569 RCV000460900 RCV001194199 RCV003316230 RCV005430286

NM_032043.3(BRIP1):c.629C>A (p.Pro210His)

SNV
Germline

Chr17:61808756

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group J
Familial cancer of breast
Familial ovarian cancer

Criteria Provided
Conflicting Classifications

CA8690872

rs_140097800

11 SubmittersRCV000213204 RCV000214330 RCV000465031 RCV000990027 RCV005600837

NM_032043.3(BRIP1):c.1776G>A (p.Trp592Ter)

SNV
Germline

Chr17:61780858

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group J
Familial cancer of breast
Familial ovarian cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA8690674

rs_753023295

5 SubmittersRCV000215063 RCV001013105 RCV001047429 RCV003335268 RCV005361360

NM_032043.3(BRIP1):c.380-9T>C

SNV
Germline

Chr17:61849265

Conflicting classifications of pathogenicity

Condition: not provided
Familial cancer of breast
Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA10577567

rs_876661141

3 SubmittersRCV000217751 RCV001089355 RCV004791350

NM_007194.4(CHEK2):c.1522C>G (p.Leu508Val)

SNV
Germline

Chr22:28689155

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
not specified

Criteria Provided
Conflicting Classifications

CA10577623

rs_876660898

7 SubmittersRCV000219795 RCV000223593 RCV000545753 RCV001192411

NM_007194.4(CHEK2):c.1376-12T>C

SNV
Germline

Chr22:28694129

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast
CHEK2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA10577631

rs_876660970

5 SubmittersRCV000222949 RCV001192140 RCV002054998 RCV005361354

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_007194.4(CHEK2):c.205C>T (p.Gln69Ter)

SNV
Germline

Chr22:28734517

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA10577648

rs_768384031

6 SubmittersRCV000218911 RCV000222824 RCV000663138

NM_000465.4(BARD1):c.2224T>A (p.Leu742Met)

SNV
Germline

Chr2:214728786

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10577761

rs_876659765

6 SubmittersRCV000215561 RCV000691932 RCV001283882

NM_000465.4(BARD1):c.2181T>G (p.Asp727Glu)

SNV
Germline

Chr2:214728829

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA10577764

rs_876660554

3 SubmittersRCV000219564 RCV002515731

NM_000465.4(BARD1):c.2054A>G (p.His685Arg)

SNV
Germline

Chr2:214728956

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2090080

rs_368488821

6 SubmittersRCV000217333 RCV000559010 RCV003323462 RCV004998491

NM_000465.4(BARD1):c.2002-2A>T

SNV
Germline

Chr2:214729010

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA10577770

rs_876658260

5 SubmittersRCV000217545 RCV000691382

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.1922G>A (p.Arg641Gln)

SNV
Germline

Chr2:214730490

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2090115

rs_752870879

6 SubmittersRCV000219953 RCV000232354 RCV000483818

NM_000465.4(BARD1):c.1904-3C>T

SNV
Germline

Chr2:214730511

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
not specified

Criteria Provided
Conflicting Classifications

CA10577780

rs_876660360

5 SubmittersRCV000214963 RCV000686199 RCV001174928

NM_000465.4(BARD1):c.1903+1G>T

SNV
Germline

Chr2:214745066

Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA10577781

rs_876660237

3 SubmittersRCV000220803 RCV002515701

NM_000465.4(BARD1):c.1810+1G>A

SNV
Germline

Chr2:214745721

Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA10577783

rs_876659894

4 SubmittersRCV000215189 RCV002515675 RCV003488477

NM_000465.4(BARD1):c.1724G>A (p.Ser575Asn)

SNV
Germline

Chr2:214745808

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2090181

rs_774352844

7 SubmittersRCV000220167 RCV000547252 RCV000781931 RCV001589147

NM_000465.4(BARD1):c.1714C>T (p.Leu572Phe)

SNV
Germline

Chr2:214745818

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2090182

rs_772222117

7 SubmittersRCV000219042 RCV000474211 RCV000767169

NM_000465.4(BARD1):c.1639G>T (p.Glu547Ter)

SNV
Germline

Chr2:214752485

Pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA10577794

rs_876658429

3 SubmittersRCV000213181 RCV003335242

NM_000465.4(BARD1):c.1598A>T (p.Tyr533Phe)

SNV
Germline

Chr2:214752526

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Hepatocellular carcinoma

Criteria Provided
Conflicting Classifications

CA2090214

rs_761673463

7 SubmittersRCV000213824 RCV000526059 RCV001546645 RCV005895042

NM_000465.4(BARD1):c.1525A>G (p.Ile509Val)

SNV
Germline

Chr2:214767525

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA10577801

rs_876658576

5 SubmittersRCV000215779 RCV000560609

NM_000465.4(BARD1):c.1353A>T (p.Gly451=)

SNV
Germline

Chr2:214769274

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA2090278

rs_369564500

7 SubmittersRCV000217509 RCV000226879 RCV002243896 RCV003387811

NM_000465.4(BARD1):c.1264G>A (p.Val422Met)

SNV
Germline

Chr2:214780610

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA10577816

rs_876660910

3 SubmittersRCV000213789 RCV002516182

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.1052C>T (p.Thr351Met)

SNV
Germline

Chr2:214780822

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA2090345

rs_767208122

8 SubmittersRCV000215474 RCV000228874 RCV000486938 RCV001357827

NM_000465.4(BARD1):c.907G>A (p.Val303Ile)

SNV
Germline

Chr2:214780967

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
not specified

Criteria Provided
Conflicting Classifications

CA2090367

rs_375048835

6 SubmittersRCV000217260 RCV000468062 RCV001269246

NM_000465.4(BARD1):c.896C>G (p.Thr299Ser)

SNV
Germline

Chr2:214780978

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA10577830

rs_141934748

2 SubmittersRCV000219572 RCV001202506

NM_000465.4(BARD1):c.826A>G (p.Thr276Ala)

SNV
Germline

Chr2:214781048

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA10577832

rs_876659291

2 SubmittersRCV000222445 RCV002515634

NM_000465.4(BARD1):c.748T>G (p.Ser250Ala)

SNV
Germline

Chr2:214781126

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA10577834

rs_570022823

2 SubmittersRCV000217405 RCV000457263

NM_000465.4(BARD1):c.709C>T (p.Gln237Ter)

SNV
Germline

Chr2:214781165

Pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA10577838

rs_587780035

3 SubmittersRCV000221541 RCV000486426 RCV003335240

NM_000465.4(BARD1):c.676G>C (p.Asp226His)

SNV
Germline

Chr2:214781198

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10577839

rs_876659965

7 SubmittersRCV000221827 RCV000230323 RCV002291601

NM_000465.4(BARD1):c.617A>G (p.Gln206Arg)

SNV
Germline

Chr2:214781257

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA10577841

rs_760718143

3 SubmittersRCV000221813 RCV001049658

NM_000465.4(BARD1):c.607G>A (p.Gly203Arg)

SNV
Germline

Chr2:214781267

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10577842

rs_730881415

5 SubmittersRCV000216447 RCV000689233 RCV001705224

NM_000465.4(BARD1):c.592G>T (p.Ala198Ser)

SNV
Germline

Chr2:214781282

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2090405

rs_748834249

5 SubmittersRCV000215501 RCV000475185 RCV003156234

NM_000465.4(BARD1):c.568G>T (p.Asp190Tyr)

SNV
Germline

Chr2:214781306

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA2090408

rs_369561166

2 SubmittersRCV000218063 RCV000824534

NM_000465.4(BARD1):c.562C>T (p.Pro188Ser)

SNV
Germline

Chr2:214781312

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA2090410

rs_373249008

3 SubmittersRCV000218801 RCV000560844

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_000465.4(BARD1):c.493A>T (p.Thr165Ser)

SNV
Germline

Chr2:214781381

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10577846

rs_876658147

6 SubmittersRCV000218271 RCV000230133 RCV003328565

NM_000465.4(BARD1):c.277C>T (p.Gln93Ter)

SNV
Germline

Chr2:214792384

Pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA10577853

rs_876658571

2 SubmittersRCV000219047 RCV000635720

NM_000465.4(BARD1):c.216-1G>A

SNV
Germline

Chr2:214792446

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA10577857

rs_876658905

4 SubmittersRCV000217544 RCV001065792

NM_000465.4(BARD1):c.86A>T (p.Asp29Val)

SNV
Germline

Chr2:214809484

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10577864

rs_777491507

5 SubmittersRCV000217089 RCV000560249 RCV001762477

NM_000465.4(BARD1):c.55G>T (p.Glu19Ter)

SNV
Germline

Chr2:214809515

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
BARD1-related cancer predisposition

Criteria Provided
Multiple Submitters
No Conflicts

CA2090530

rs_752514155

10 SubmittersRCV000215389 RCV000458694 RCV000482172 RCV006554504

NM_000535.7(PMS2):c.825A>G (p.Gln275=)

SNV
Germline

Chr7:5995612

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
Mismatch repair cancer syndrome 1
Lynch syndrome 4
Lynch syndrome 4
Gastric cancer
Lynch syndrome
Hereditary nonpolyposis colon cancer
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA10578696

rs_876659736

14 SubmittersRCV000219153 RCV000479060 RCV000541550 RCV000763588 RCV001267893 RCV003165571 RCV003997969 RCV004525906 RCV005895045

NM_000051.4(ATM):c.67C>T (p.Arg23Ter)

SNV
Germline/somatic

Chr11:108227691

Pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Ataxia-telangiectasia syndrome
Familial cancer of breast
ATM-related cancer predisposition
Neoplasm

Reviewed By Expert Panel

CA6264503

rs_746235533

17 SubmittersRCV000215307 RCV000579150 RCV000627840 RCV001310099 RCV005001021 RCV005230121

NM_000051.4(ATM):c.69A>G (p.Arg23=)

SNV
Germline

Chr11:108227693

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10578940

rs_876659304

7 SubmittersRCV000221002 RCV000484040 RCV001086703 RCV004589975

NM_000051.4(ATM):c.104G>A (p.Arg35Gln)

SNV
Germline

Chr11:108227807

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10578942

rs_876659324

8 SubmittersRCV000216920 RCV000460608 RCV001770178 RCV003469040

NM_000051.4(ATM):c.156A>C (p.Gly52=)

SNV
Germline

Chr11:108227859

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided
ATM-related disorder
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA10578945

rs_876660725

5 SubmittersRCV000222551 RCV001400504 RCV003238744 RCV004547560 RCV004591027

NM_000051.4(ATM):c.172G>T (p.Asp58Tyr)

SNV
Germline

Chr11:108227875

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA10578947

rs_876660661

4 SubmittersRCV000222411 RCV000627984 RCV002265695

NM_000051.4(ATM):c.200A>G (p.Tyr67Cys)

SNV
Germline

Chr11:108229192

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6264536

rs_754033733

10 SubmittersRCV000213607 RCV000501575 RCV000556463 RCV001250443 RCV001548023

NM_000051.4(ATM):c.238C>T (p.Pro80Ser)

SNV
Germline

Chr11:108229230

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6264539

rs_750597831

5 SubmittersRCV000222655 RCV000590630 RCV003105829 RCV004567624

NM_000051.4(ATM):c.331+5G>A

SNV
Germline

Chr11:108229328

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA6264551

rs_752135143

20 SubmittersRCV000216445 RCV000410500 RCV000761802 RCV002494588 RCV003469016 RCV005895033

NM_000051.4(ATM):c.332-1G>A

SNV
Germline

Chr11:108235669

Pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Ataxia-telangiectasia syndrome
ATM-related cancer predisposition

Reviewed By Expert Panel

CA6264590

rs_747855862

8 SubmittersRCV000217634 RCV000480467 RCV002221517 RCV002519688 RCV005638467

NM_000051.4(ATM):c.496+1G>A

SNV
Germline

Chr11:108235835

Likely pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA10578961

rs_876658500

3 SubmittersRCV000220072 RCV001379244 RCV005044444

NM_000051.4(ATM):c.496+3A>G

SNV
Germline

Chr11:108235837

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10578962

rs_876658311

9 SubmittersRCV000222498 RCV000509292 RCV000546346 RCV001535556 RCV003468991

NM_000051.4(ATM):c.672G>C (p.Lys224Asn)

SNV
Germline

Chr11:108244797

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6264665

rs_769731317

5 SubmittersRCV000221484 RCV000485993 RCV000474412 RCV000589106 RCV004567632

NM_000051.4(ATM):c.753G>A (p.Val251=)

SNV
Germline

Chr11:108244878

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10578975

rs_876658806

8 SubmittersRCV000214576 RCV000461267 RCV003128605 RCV004589944

NM_000051.4(ATM):c.829G>T (p.Glu277Ter)

SNV
Germline

Chr11:108244954

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Ataxia-telangiectasia syndrome
Abnormal central motor function
Gastric cancer
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA10578979

rs_876660933

11 SubmittersRCV000223320 RCV000235851 RCV000669686 RCV001814123 RCV003165577 RCV003469103

NM_000051.4(ATM):c.875C>T (p.Pro292Leu)

SNV
Germline

Chr11:108245000

Likely pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Ataxia-telangiectasia syndrome
Breast carcinoma
Gastric cancer
Familial cancer of breast
ATM-related cancer predisposition

Reviewed By Expert Panel

CA6264689

rs_747727055

17 SubmittersRCV000220769 RCV000255507 RCV000526404 RCV001658022 RCV003165551 RCV003468983 RCV005638465

NM_000051.4(ATM):c.901+1G>T

SNV
Germline

Chr11:108245027

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA10578981

rs_748840480

6 SubmittersRCV000216527 RCV001379229 RCV003469102

NM_000051.4(ATM):c.1066-1G>A

SNV
Germline

Chr11:108248932

Likely pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA10578992

rs_876660038

3 SubmittersRCV000223052 RCV002515683 RCV004020679

NM_000051.4(ATM):c.1168G>A (p.Glu390Lys)

SNV
Germline

Chr11:108249035

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA10578998

rs_876660106

2 SubmittersRCV000216867 RCV002288881

NM_000051.4(ATM):c.1340G>A (p.Arg447Gln)

SNV
Germline

Chr11:108250805

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6264802

rs_760676955

10 SubmittersRCV000219262 RCV000555662 RCV001193008 RCV001582744 RCV003462432

NM_000051.4(ATM):c.1396C>T (p.Gln466Ter)

SNV
Germline

Chr11:108250861

Pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Ataxia-telangiectasia syndrome
Familial cancer of breast
Inherited breast cancer and ovarian cancer
ATM-related cancer predisposition

Reviewed By Expert Panel

CA10579008

rs_876660485

9 SubmittersRCV000221369 RCV000486468 RCV000552755 RCV004020688 RCV004782315 RCV005001022

NM_000051.4(ATM):c.1608-3T>C

SNV
Germline

Chr11:108251834

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6264852

rs_774196176

7 SubmittersRCV000220922 RCV000538430 RCV001705209 RCV001804954 RCV004589928

NM_000051.4(ATM):c.1702A>G (p.Arg568Gly)

SNV
Germline

Chr11:108251931

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast
ATM-related disorder

Criteria Provided
Conflicting Classifications

CA10579021

rs_876659425

7 SubmittersRCV000213694 RCV000821518 RCV003462480 RCV004547546

NM_000051.4(ATM):c.1931C>A (p.Ser644Ter)

SNV
Germline

Chr11:108253846

Pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Ataxia-telangiectasia syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast
Malignant tumor of breast
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA10579032

rs_768362387

9 SubmittersRCV000222313 RCV000482158 RCV000576759 RCV000762815 RCV003235146 RCV004020689

NM_000051.4(ATM):c.1935C>T (p.Phe645=)

SNV
Germline

Chr11:108253850

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA10579033

rs_876659709

4 SubmittersRCV000219027 RCV001488487 RCV004590983

NM_000051.4(ATM):c.2023C>T (p.Gln675Ter)

SNV
Germline/somatic

Chr11:108253938

Pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Ataxia-telangiectasia syndrome
Familial cancer of breast
Malignant tumor of urinary bladder

Criteria Provided
Multiple Submitters
No Conflicts

CA6264916

rs_777849257

9 SubmittersRCV000215540 RCV000255863 RCV000411314 RCV001293971 RCV003332147

NM_000051.4(ATM):c.2251-1G>C

SNV
Germline

Chr11:108257480

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA10579044

rs_876659710

3 SubmittersRCV000223310 RCV000464660 RCV004020675

NM_000051.4(ATM):c.2466A>G (p.Leu822=)

SNV
Germline

Chr11:108259075

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6265025

rs_747108452

9 SubmittersRCV000223348 RCV000228916 RCV001705212 RCV004589939 RCV005237738

NM_000051.4(ATM):c.2500G>T (p.Glu834Ter)

SNV
Germline

Chr11:108267204

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA10579057

rs_876660430

4 SubmittersRCV000218880 RCV000544182 RCV003469080

NM_000051.4(ATM):c.2552A>G (p.Asp851Gly)

SNV
Germline

Chr11:108267256

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6265058

rs_748203812

8 SubmittersRCV000216103 RCV000234621 RCV000478364 RCV002485433

NM_000051.4(ATM):c.2569C>G (p.Leu857Val)

SNV
Germline

Chr11:108267273

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10579062

rs_876659486

5 SubmittersRCV000215421 RCV000236914 RCV001221171 RCV002478797

NM_000051.4(ATM):c.2672C>G (p.Ser891Ter)

SNV
Germline

Chr11:108268443

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Ataxia-telangiectasia syndrome
Familial cancer of breast
Ataxia-telangiectasia syndrome
Familial cancer of breast
Familial colorectal cancer type X

Criteria Provided
Multiple Submitters
No Conflicts

CA10579065

rs_876660780

11 SubmittersRCV000218040 RCV000657742 RCV000697837 RCV003463596 RCV005044458 RCV005361348

NM_000051.4(ATM):c.2838+4A>G

SNV
Germline

Chr11:108268613

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast
ATM-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10579072

rs_876659907

8 SubmittersRCV000222111 RCV001215325 RCV003462502 RCV004547551 RCV005230122

NM_000051.4(ATM):c.3077+4G>A

SNV
Germline

Chr11:108271410

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Ataxia-telangiectasia syndrome
Malignant tumor of breast
Familial cancer of breast
ATM-related disorder

Criteria Provided
Conflicting Classifications

CA6265179

rs_201222237

12 SubmittersRCV000213394 RCV000430951 RCV000988671 RCV001355758 RCV004589979 RCV004547547

NM_000051.4(ATM):c.3078-1G>A

SNV
Germline

Chr11:108272531

Pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided
Familial cancer of breast
ATM-related cancer predisposition

Reviewed By Expert Panel

CA6265193

rs_750663117

8 SubmittersRCV000219914 RCV000410565 RCV000482905 RCV003462457 RCV005638466

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.3190A>G (p.Met1064Val)

SNV
Germline

Chr11:108272758

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6265222

rs_79431304

9 SubmittersRCV000214272 RCV000671975 RCV001546529 RCV003153495 RCV003468979

NM_000051.4(ATM):c.3256C>T (p.Arg1086Cys)

SNV
Germline

Chr11:108272824

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6265233

rs_201780199

11 SubmittersRCV000220781 RCV000462986 RCV000757014 RCV003330592 RCV003469092 RCV003491988 RCV005861091

NM_000051.4(ATM):c.3285-5T>C

SNV
Germline

Chr11:108279486

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA10579094

rs_876659715

4 SubmittersRCV000214287 RCV001417887 RCV004590984

NM_000051.4(ATM):c.3365A>G (p.Asn1122Ser)

SNV
Germline

Chr11:108279571

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6265269

rs_745863765

4 SubmittersRCV000219389 RCV000478505 RCV001853542 RCV005044447

NM_000051.4(ATM):c.3382C>G (p.Gln1128Glu)

SNV
Germline

Chr11:108279588

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA10579103

rs_876659825

6 SubmittersRCV000219396 RCV000695904 RCV005361320

NM_000051.4(ATM):c.3511C>T (p.Gln1171Ter)

SNV
Germline

Chr11:108281103

Pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA10579109

rs_876659067

6 SubmittersRCV000213580 RCV000802075 RCV003155932

NM_000051.4(ATM):c.3746+5G>A

SNV
Germline

Chr11:108282884

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA10579121

rs_876658419

4 SubmittersRCV000215462 RCV000550255 RCV003462426

NM_000051.4(ATM):c.3982T>C (p.Leu1328=)

SNV
Germline

Chr11:108284462

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
not specified
Breast and/or ovarian cancer
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA10579130

rs_876658204

8 SubmittersRCV000218295 RCV000952246 RCV001658023 RCV003150117 RCV004589914

NM_000051.4(ATM):c.4092C>A (p.Asp1364Glu)

SNV
Germline

Chr11:108287698

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA10579133

rs_876660956

5 SubmittersRCV000218537 RCV002516183 RCV004567673

NM_000051.4(ATM):c.4150C>A (p.His1384Asn)

SNV
Germline

Chr11:108289017

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast
not specified

Criteria Provided
Conflicting Classifications

CA10579135

rs_876660576

5 SubmittersRCV000218137 RCV001242525 RCV004567650 RCV003493532

NM_000051.4(ATM):c.4196C>G (p.Thr1399Ser)

SNV
Germline

Chr11:108289063

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided
Familial cancer of breast
Breast and/or ovarian cancer

Criteria Provided
Conflicting Classifications

CA10579137

rs_786203761

8 SubmittersRCV000215942 RCV000473821 RCV000486909 RCV003462488 RCV003491980

NM_000051.4(ATM):c.4236+1G>T

SNV
Germline

Chr11:108289104

Likely pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial prostate cancer
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA10579139

rs_876660674

6 SubmittersRCV000220335 RCV000628077 RCV002469081 RCV004020692

NM_000051.4(ATM):c.4437-5A>G

SNV
Germline

Chr11:108292614

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10579150

rs_876658290

5 SubmittersRCV000221017 RCV001454607 RCV004589919 RCV004998443

NM_000051.4(ATM):c.4437-1G>C

SNV
Germline

Chr11:108292618

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA6265475

rs_759520465

9 SubmittersRCV000216400 RCV000486776 RCV000530451 RCV003469042

NM_000051.4(ATM):c.4468A>G (p.Ser1490Gly)

SNV
Germline

Chr11:108292650

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Ataxia-telangiectasia syndrome
not specified
Ataxia-telangiectasia syndrome
Familial cancer of breast
Familial cancer of breast
ATM-related disorder

Criteria Provided
Conflicting Classifications

CA10579151

rs_876658711

10 SubmittersRCV000218371 RCV000487259 RCV000555359 RCV002247648 RCV002500725 RCV004589937 RCV004547534

NM_000051.4(ATM):c.4612-4T>G

SNV
Germline

Chr11:108293309

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6265519

rs_569983068

8 SubmittersRCV000222370 RCV000539535 RCV001596995 RCV003493514 RCV004589942

NM_000051.4(ATM):c.4774G>T (p.Glu1592Ter)

SNV
Germline

Chr11:108293475

Pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA10579165

rs_876658587

2 SubmittersRCV000219771 RCV003454618

NM_000051.4(ATM):c.5319+1G>A

SNV
Germline

Chr11:108301790

Likely pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA10579177

rs_876660175

3 SubmittersRCV000214126 RCV002519724 RCV006633908

NM_000051.4(ATM):c.5319+3C>A

SNV
Germline

Chr11:108301792

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided
Familial cancer of breast
ATM-related disorder

Criteria Provided
Conflicting Classifications

CA6265670

rs_371640963

6 SubmittersRCV000222959 RCV000628003 RCV000838632 RCV004589970 RCV004547542

NM_000051.4(ATM):c.5456C>T (p.Thr1819Ile)

SNV
Germline

Chr11:108302989

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6265701

rs_760060843

7 SubmittersRCV000219062 RCV000485146 RCV000544430 RCV001818530 RCV005044449

NM_000051.4(ATM):c.5497-1G>A

SNV
Germline

Chr11:108304674

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA10579182

rs_876660245

7 SubmittersRCV000220437 RCV000254723 RCV001853622 RCV003469067

NM_000051.4(ATM):c.5618G>A (p.Cys1873Tyr)

SNV
Germline

Chr11:108304796

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10579188

rs_587782239

6 SubmittersRCV000222325 RCV000627966 RCV000587287 RCV003469066

NM_000051.4(ATM):c.5763-2A>C

SNV
Germline

Chr11:108310158

Pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA10579195

rs_876659489

3 SubmittersRCV000216373 RCV003605611 RCV004020674

NM_000051.4(ATM):c.5798G>A (p.Trp1933Ter)

SNV
Germline

Chr11:108310195

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided
Familial cancer of breast
Malignant tumor of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA10579198

rs_876658740

9 SubmittersRCV000218884 RCV000409971 RCV000627198 RCV003469013 RCV006263768

NM_000051.4(ATM):c.5919-2A>G

SNV
Germline

Chr11:108312409

Likely pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA6265805

rs_746623393

5 SubmittersRCV000216360 RCV000665828 RCV003468989

NM_000051.4(ATM):c.6056A>G (p.Tyr2019Cys)

SNV
Germline/somatic

Chr11:108315872

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
not specified
Condition: not provided
Familial cancer of breast
Neoplasm

Criteria Provided
Conflicting Classifications

CA10579205

rs_876658415

7 SubmittersRCV000216689 RCV000543617 RCV001251347 RCV004701282 RCV005361257 RCV005230107

NM_000051.4(ATM):c.6082C>T (p.Gln2028Ter)

SNV
Germline

Chr11:108315898

Pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA10579207

rs_876659454

5 SubmittersRCV000213485 RCV000666075 RCV004020673

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.6226A>G (p.Ile2076Val)

SNV
Germline

Chr11:108317400

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast
Ataxia-telangiectasia syndrome
Familial cancer of breast
Condition: not provided
not specified
ATM-related disorder

Criteria Provided
Conflicting Classifications

CA6265897

rs_755973863

12 SubmittersRCV000217659 RCV000456769 RCV002288898 RCV002494598 RCV003441803 RCV003488480 RCV004739622

NM_000051.4(ATM):c.6255T>A (p.Asp2085Glu)

SNV
Germline

Chr11:108317429

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6265900

rs_376898203

5 SubmittersRCV000213929 RCV000236427 RCV000458993 RCV004567599

NM_000051.4(ATM):c.6338C>G (p.Thr2113Ser)

SNV
Germline

Chr11:108317512

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6265906

rs_573290117

10 SubmittersRCV000221486 RCV000533728 RCV001174836 RCV003227722 RCV004725094

NM_000051.4(ATM):c.6397C>T (p.Gln2133Ter)

SNV
Germline

Chr11:108320003

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA10579222

rs_876658163

5 SubmittersRCV000219604 RCV000472831 RCV000657712 RCV003468981

NM_000051.4(ATM):c.6443A>G (p.Lys2148Arg)

SNV
Germline

Chr11:108320049

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6265935

rs_730881382

8 SubmittersRCV000218229 RCV000274807 RCV000529492 RCV004556772

NM_000051.4(ATM):c.6475T>G (p.Cys2159Gly)

SNV
Germline

Chr11:108321323

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6265955

rs_150408832

11 SubmittersRCV000220825 RCV000554683 RCV000587154 RCV003469006 RCV003483577 RCV006268676

NM_000051.4(ATM):c.6741T>G (p.Ile2247Met)

SNV
Germline

Chr11:108325478

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10579232

rs_876658607

8 SubmittersRCV000215949 RCV000477596 RCV000764939 RCV001545304 RCV003114384 RCV003469005

NM_000051.4(ATM):c.6975G>C (p.Ala2325=)

SNV
Germline

Chr11:108326225

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Ataxia-telangiectasia syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast
Malignant tumor of breast
not specified
Familial cancer of breast
ATM-related disorder

Criteria Provided
Conflicting Classifications

CA10579244

rs_556778314

15 SubmittersRCV000215860 RCV000481810 RCV000538344 RCV000764940 RCV001354654 RCV003235145 RCV004020683 RCV004739617

NM_000051.4(ATM):c.6975+4T>A

SNV
Germline

Chr11:108326229

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA10579245

rs_876660240

3 SubmittersRCV000214086 RCV001059044 RCV004591010

NM_000051.4(ATM):c.6975+5G>T

SNV
Germline

Chr11:108326230

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6266037

rs_575354684

9 SubmittersRCV000223599 RCV000525908 RCV002472972 RCV003469039

NM_000051.4(ATM):c.7408T>G (p.Tyr2470Asp)

SNV
Germline

Chr11:108330314

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA10579258

rs_876659365

6 SubmittersRCV000220077 RCV000528764 RCV002247654

NM_000051.4(ATM):c.7487G>A (p.Gly2496Glu)

SNV
Germline

Chr11:108330393

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Ovarian cancer
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA6266113

rs_764478418

6 SubmittersRCV000215037 RCV001042097 RCV003153502 RCV005044448

NM_000051.4(ATM):c.7502A>G (p.Asn2501Ser)

SNV
Germline

Chr11:108330408

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6266116

rs_531617441

16 SubmittersRCV000222504 RCV000233636 RCV000486420 RCV000764945 RCV001818535 RCV003338468

NM_000051.4(ATM):c.7630-3C>T

SNV
Germline

Chr11:108331876

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10579265

rs_587782448

5 SubmittersRCV000217123 RCV000689792 RCV001697248 RCV003468995

NM_000051.4(ATM):c.8072G>A (p.Arg2691His)

SNV
Germline

Chr11:108335030

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Ataxia-telangiectasia syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast
ATM-related disorder
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA10579281

rs_876658385

8 SubmittersRCV000218643 RCV000236137 RCV000628082 RCV000764948 RCV004547528 RCV004567513

NM_000051.4(ATM):c.8211A>T (p.Thr2737=)

SNV
Germline

Chr11:108335904

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
not specified
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA10579288

rs_876660946

8 SubmittersRCV000219301 RCV000979478 RCV003320462 RCV004591040

NM_000051.4(ATM):c.8268+1G>T

SNV
Germline

Chr11:108335962

Likely pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Malignant tumor of breast
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA10579293

rs_876658957

7 SubmittersRCV000220293 RCV000988734 RCV003235141 RCV003469024

NM_000051.4(ATM):c.8287C>T (p.Arg2763Ter)

SNV
Germline

Chr11:108343240

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA10579294

rs_876659872

8 SubmittersRCV000214803 RCV000538433 RCV001531760 RCV004020676

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_000051.4(ATM):c.8549T>A (p.Leu2850Ter)

SNV
Germline

Chr11:108345873

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA10579304

rs_876658716

12 SubmittersRCV000215215 RCV000526852 RCV000519674 RCV003469011 RCV004668855

NM_000051.4(ATM):c.8565T>G (p.Ser2855Arg)

SNV
Germline

Chr11:108345889

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA6266379

rs_780905851

9 SubmittersRCV000220309 RCV000695412 RCV002264921 RCV003469029 RCV003483578 RCV005895037

NM_000051.4(ATM):c.8585-1G>A

SNV
Germline

Chr11:108347278

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA10579307

rs_876660066

2 SubmittersRCV000217583 RCV004020680

NM_000051.4(ATM):c.8737G>T (p.Asp2913Tyr)

SNV
Germline

Chr11:108353831

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast
ATM-related cancer predisposition

Criteria Provided
Multiple Submitters
No Conflicts

CA10579315

rs_756899044

7 SubmittersRCV000221292 RCV000802642 RCV003316210 RCV005361281

NM_000051.4(ATM):c.8851-3T>G

SNV
Germline

Chr11:108365079

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6266483

rs_748874219

8 SubmittersRCV000222144 RCV000399889 RCV002281068 RCV005396712 RCV006273645

NM_000051.4(ATM):c.8950C>A (p.Leu2984Met)

SNV
Germline

Chr11:108365181

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA6266495

rs_747445236

4 SubmittersRCV000219819 RCV000691686 RCV005361302

NM_000051.4(ATM):c.8987+5G>C

SNV
Germline

Chr11:108365223

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA10579329

rs_876660570

4 SubmittersRCV000220961 RCV001245673 RCV005396728

NM_000051.4(ATM):c.9002G>A (p.Ser3001Asn)

SNV
Germline

Chr11:108365339

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided
not specified
Ataxia-telangiectasia syndrome
Familial cancer of breast
Familial cancer of breast
ATM-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA10579331

rs_587781413

13 SubmittersRCV000217769 RCV000555618 RCV000994721 RCV001193665 RCV002478796 RCV004567583 RCV005361304

NM_000051.4(ATM):c.9019G>T (p.Glu3007Ter)

SNV
Germline

Chr11:108365356

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided
Clear cell carcinoma of kidney
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA10579335

rs_876660382

12 SubmittersRCV000222768 RCV000233073 RCV000255661 RCV001854694 RCV004020686

NM_000051.4(ATM):c.9049C>T (p.Leu3017=)

SNV
Germline

Chr11:108365386

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10579339

rs_876658991

5 SubmittersRCV000223235 RCV000479815 RCV001084757 RCV004589956

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.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.1909+2T>A

SNV
Germline

Chr13:32333389

Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA10579514

rs_876658577

2 SubmittersRCV000214167 RCV002279716

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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.9356T>A (p.Leu3119Ter)

SNV
Germline

Chr13:32394788

Pathogenic

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

Reviewed By Expert Panel

CA10579829

rs_80359207

4 SubmittersRCV000215065 RCV000256908 RCV004567627

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.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_024675.4(PALB2):c.3544G>C (p.Val1182Leu)

SNV
Germline

Chr16:23603476

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA10579910

rs_876660474

2 SubmittersRCV000215738 RCV000802184

NM_024675.4(PALB2):c.3494C>T (p.Ser1165Leu)

SNV
Germline

Chr16:23603526

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Fanconi anemia complementation group N
Chordoma
Familial cancer of breast
Fanconi anemia complementation group N
Pancreatic cancer, susceptibility to, 3

Criteria Provided
Conflicting Classifications

CA7963328

rs_773829275

12 SubmittersRCV000220953 RCV000485944 RCV000535759 RCV001121621 RCV002266936 RCV002478804

NM_024675.4(PALB2):c.3412G>A (p.Ala1138Thr)

SNV
Germline

Chr16:23603608

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA7963343

rs_577651839

9 SubmittersRCV000215508 RCV000686283 RCV000759188 RCV005016592

NM_024675.4(PALB2):c.3392T>C (p.Ile1131Thr)

SNV
Germline

Chr16:23603628

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10579918

rs_876658196

10 SubmittersRCV000215576 RCV000229527 RCV000590765 RCV005396705

NM_024675.4(PALB2):c.3358G>T (p.Glu1120Ter)

SNV
Germline

Chr16:23603662

Pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA10579919

rs_876658773

4 SubmittersRCV000215626 RCV003454620

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.3232T>A (p.Cys1078Ser)

SNV
Germline

Chr16:23607982

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Carcinoma of colon
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA10579924

rs_876659587

8 SubmittersRCV000214649 RCV000530258 RCV001030400 RCV001788088 RCV003230458

NM_024675.4(PALB2):c.3225T>A (p.Ser1075Arg)

SNV
Germline

Chr16:23607989

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Familial cancer of breast
Fanconi anemia complementation group N
Pancreatic cancer, susceptibility to, 3
Fanconi anemia complementation group N
Breast-ovarian cancer, familial, susceptibility to, 5
Pancreatic cancer, susceptibility to, 3
not specified

Criteria Provided
Conflicting Classifications

CA7963396

rs_202222149

8 SubmittersRCV000218610 RCV000466966 RCV002500726 RCV005396711 RCV005895032

NM_024675.4(PALB2):c.3201+3A>C

SNV
Germline

Chr16:23614001

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA10579928

rs_876660215

2 SubmittersRCV000216437 RCV001853618

NM_024675.4(PALB2):c.3165C>A (p.Tyr1055Ter)

SNV
Germline

Chr16:23614040

Pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA10579929

rs_876658157

4 SubmittersRCV000222632 RCV001857756 RCV004998440

NM_024675.4(PALB2):c.3114G>A (p.Trp1038Ter)

SNV
Germline

Chr16:23614091

Pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA10579930

rs_778345761

4 SubmittersRCV000222262 RCV001030388 RCV001070907

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.3096G>C (p.Met1032Ile)

SNV
Germline

Chr16:23621379

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA7963436

rs_778705498

3 SubmittersRCV000217483 RCV001216363

NM_024675.4(PALB2):c.3061G>A (p.Gly1021Arg)

SNV
Germline

Chr16:23621414

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Breast and/or ovarian cancer
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7963440

rs_143808171

9 SubmittersRCV000214675 RCV000558947 RCV001798715 RCV002265691 RCV003328567

NM_024675.4(PALB2):c.2978C>T (p.Thr993Met)

SNV
Germline

Chr16:23622987

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA7963457

rs_61756146

12 SubmittersRCV000213330 RCV000236936 RCV000544190 RCV002478799 RCV002267960 RCV005396720

NM_024675.4(PALB2):c.2968G>T (p.Glu990Ter)

SNV
Germline

Chr16:23622997

Pathogenic

Hereditary cancer-predisposing syndrome
Breast neoplasm
Familial cancer of breast
Condition: not provided
Fanconi anemia complementation group N
Breast-ovarian cancer, familial, susceptibility to, 5
Pancreatic cancer, susceptibility to, 3
Breast-ovarian cancer, familial, susceptibility to, 5

Criteria Provided
Multiple Submitters
No Conflicts

CA10579941

rs_876659036

10 SubmittersRCV000219424 RCV000504617 RCV000635907 RCV000657700 RCV004796114 RCV005361290

NM_024675.4(PALB2):c.2835G>A (p.Arg945=)

SNV
Germline

Chr16:23623130

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA10579948

rs_876659983

3 SubmittersRCV000217381 RCV000483812 RCV001320081

NM_024675.4(PALB2):c.2693G>A (p.Trp898Ter)

SNV
Germline

Chr16:23626291

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Breast and/or ovarian cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA10579954

rs_876658983

6 SubmittersRCV000216899 RCV000478895 RCV002518293 RCV003491974

NM_024675.4(PALB2):c.2674G>T (p.Glu892Ter)

SNV
Germline

Chr16:23626310

Pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Inherited breast cancer and ovarian cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA10579956

rs_45476495

7 SubmittersRCV000217992 RCV001045962 RCV005237756

NM_024675.4(PALB2):c.2667T>A (p.Thr889=)

SNV
Germline

Chr16:23626317

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group N
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA10579957

rs_876659224

4 SubmittersRCV000216116 RCV001118199 RCV005090094

NM_024675.4(PALB2):c.2630G>A (p.Trp877Ter)

SNV
Germline

Chr16:23626354

Pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA10579959

rs_876660678

3 SubmittersRCV000213186 RCV001064019

NM_024675.4(PALB2):c.2512C>G (p.Gln838Glu)

SNV
Germline

Chr16:23629642

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group N
Familial cancer of breast
Pancreatic cancer, susceptibility to, 3
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10579963

rs_750650768

6 SubmittersRCV000213341 RCV000635607 RCV002478788 RCV003223625

NM_024675.4(PALB2):c.2506G>C (p.Val836Leu)

SNV
Germline

Chr16:23629648

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
B lymphoblastic leukemia lymphoma with t(12
21)(p13
q22)
TEL-AML1 (ETV6-RUNX1)
Familial cancer of breast
Fanconi anemia complementation group N
Familial cancer of breast
Pancreatic cancer, susceptibility to, 3

Criteria Provided
Conflicting Classifications

CA7963565

rs_536644825

6 SubmittersRCV000215537 RCV000761094 RCV000687946 RCV002494591

NM_024675.4(PALB2):c.2506G>A (p.Val836Ile)

SNV
Germline

Chr16:23629648

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA7963564

rs_536644825

12 SubmittersRCV000214970 RCV000457210 RCV000586837 RCV001420721 RCV005361295 RCV005016588

NM_024675.4(PALB2):c.2448C>G (p.Phe816Leu)

SNV
Germline

Chr16:23629706

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
not specified

Criteria Provided
Conflicting Classifications

CA10579970

rs_876659879

4 SubmittersRCV000215749 RCV000635843 RCV002247661

NM_024675.4(PALB2):c.2167A>T (p.Met723Leu)

SNV
Germline

Chr16:23629987

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10579981

rs_876660336

5 SubmittersRCV000217611 RCV000467128 RCV003153509 RCV005016605

NM_024675.4(PALB2):c.2167A>G (p.Met723Val)

SNV
Germline

Chr16:23629987

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10579982

rs_876660336

3 SubmittersRCV000214669 RCV001350792 RCV005868132

NM_024675.4(PALB2):c.2147A>G (p.Asn716Ser)

SNV
Germline

Chr16:23630007

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Papillary thyroid carcinoma
Condition: not provided
not specified
PALB2-related disorder

Criteria Provided
Conflicting Classifications

CA7963618

rs_148335539

8 SubmittersRCV000214302 RCV000458608 RCV000761167 RCV001567281 RCV002271471 RCV004532798

NM_024675.4(PALB2):c.2108T>G (p.Leu703Ter)

SNV
Germline

Chr16:23630046

Pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA7963621

rs_752592662

3 SubmittersRCV000223583 RCV001221815

NM_024675.4(PALB2):c.1960A>G (p.Ile654Val)

SNV
Germline

Chr16:23630194

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
not specified
Breast-ovarian cancer, familial, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA7963642

rs_749842477

10 SubmittersRCV000215342 RCV000468846 RCV001030272 RCV004689684 RCV005361351

NM_024675.4(PALB2):c.1919C>A (p.Ser640Ter)

SNV
Germline

Chr16:23630235

Pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Fanconi anemia complementation group N
Breast-ovarian cancer, familial, susceptibility to, 5
Pancreatic cancer, susceptibility to, 3

Criteria Provided
Multiple Submitters
No Conflicts

CA7963646

rs_760094988

10 SubmittersRCV000214899 RCV000479396 RCV000545701 RCV005016586

NM_024675.4(PALB2):c.1918T>G (p.Ser640Ala)

SNV
Germline

Chr16:23630236

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group N
Familial cancer of breast
Pancreatic cancer, susceptibility to, 3
not specified

Criteria Provided
Conflicting Classifications

CA10579991

rs_876659058

7 SubmittersRCV000221223 RCV000635882 RCV002478798 RCV002509316

NM_024675.4(PALB2):c.1804C>G (p.Gln602Glu)

SNV
Germline

Chr16:23630350

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10579997

rs_876660475

4 SubmittersRCV000218759 RCV000538187 RCV005861090

NM_024675.4(PALB2):c.1767G>A (p.Thr589=)

SNV
Germline

Chr16:23630387

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA7963663

rs_769849072

13 SubmittersRCV000217926 RCV000436798 RCV000457514 RCV001121719 RCV002478785 RCV004532777 RCV005365148

NM_024675.4(PALB2):c.1744T>C (p.Ser582Pro)

SNV
Germline

Chr16:23630410

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA10579999

rs_876659597

2 SubmittersRCV000214800 RCV001316625

NM_024675.4(PALB2):c.1732A>G (p.Ser578Gly)

SNV
Germline

Chr16:23630422

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Pancreatic cancer, susceptibility to, 3
Breast-ovarian cancer, familial, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA7963665

rs_764023822

7 SubmittersRCV000217898 RCV000464403 RCV000985887 RCV001030256 RCV005361246

NM_024675.4(PALB2):c.1702C>A (p.Gln568Lys)

SNV
Germline

Chr16:23630452

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Familial cancer of breast
Fanconi anemia complementation group N
Pancreatic cancer, susceptibility to, 3
not specified
PALB2-related disorder

Criteria Provided
Conflicting Classifications

CA10580001

rs_876659354

7 SubmittersRCV000214422 RCV000818865 RCV002494593 RCV004701288 RCV004541351

NM_024675.4(PALB2):c.1694G>A (p.Ser565Asn)

SNV
Germline

Chr16:23630460

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA10580002

rs_876659914

5 SubmittersRCV000214165 RCV000536671 RCV001753674 RCV004526647

NM_024675.4(PALB2):c.1588C>T (p.Leu530Phe)

SNV
Germline

Chr16:23634958

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA10580006

rs_876659671

3 SubmittersRCV000218879 RCV000635734

NM_024675.4(PALB2):c.1573G>T (p.Asp525Tyr)

SNV
Germline

Chr16:23634973

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA10580007

rs_876659074

2 SubmittersRCV000219759 RCV001857775

NM_024675.4(PALB2):c.1540G>A (p.Gly514Arg)

SNV
Germline

Chr16:23635006

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Familial cancer of breast
Pancreatic cancer, susceptibility to, 3
Familial cancer of breast
Fanconi anemia complementation group N
Pancreatic cancer, susceptibility to, 3

Criteria Provided
Conflicting Classifications

CA7963698

rs_756778249

12 SubmittersRCV000214985 RCV000589880 RCV000989570 RCV001027798 RCV003224228

NM_024675.4(PALB2):c.1456A>G (p.Lys486Glu)

SNV
Germline

Chr16:23635090

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10580008

rs_876658949

4 SubmittersRCV000215703 RCV000811638 RCV001570464

NM_024675.4(PALB2):c.1378C>T (p.Gln460Ter)

SNV
Germline

Chr16:23635168

Pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA10580012

rs_876658166

4 SubmittersRCV000222117 RCV001853499

NM_024675.4(PALB2):c.1139G>C (p.Ser380Thr)

SNV
Germline

Chr16:23635407

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA10580020

rs_876659887

3 SubmittersRCV000218548 RCV000479465 RCV005090109

NM_024675.4(PALB2):c.1079A>G (p.Asp360Gly)

SNV
Germline

Chr16:23635467

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Familial cancer of breast
Fanconi anemia complementation group N
Pancreatic cancer, susceptibility to, 3

Criteria Provided
Conflicting Classifications

CA10580022

rs_876659751

8 SubmittersRCV000220824 RCV000459883 RCV000679759 RCV002500734

NM_024675.4(PALB2):c.1072C>T (p.Pro358Ser)

SNV
Germline

Chr16:23635474

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Fanconi anemia complementation group N
Pancreatic cancer, susceptibility to, 3
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA10580023

rs_876660876

6 SubmittersRCV000220349 RCV000235363 RCV000466160 RCV002494599

NM_024675.4(PALB2):c.1052C>A (p.Thr351Lys)

SNV
Germline

Chr16:23635494

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group N
Breast-ovarian cancer, familial, susceptibility to, 5
Pancreatic cancer, susceptibility to, 3

Criteria Provided
Conflicting Classifications

CA10580024

rs_876658656

5 SubmittersRCV000218423 RCV000531194 RCV005016578

NM_024675.4(PALB2):c.908T>C (p.Leu303Pro)

SNV
Germline

Chr16:23635638

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7963747

rs_774057025

5 SubmittersRCV000216402 RCV000822728 RCV001284671

NM_024675.4(PALB2):c.902A>G (p.Asp301Gly)

SNV
Germline

Chr16:23635644

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Pancreatic cancer, susceptibility to, 3
not specified

Criteria Provided
Conflicting Classifications

CA7963748

rs_759014440

8 SubmittersRCV000215213 RCV000461086 RCV000478906 RCV001354911 RCV004800343

NM_024675.4(PALB2):c.844A>G (p.Arg282Gly)

SNV
Germline

Chr16:23635702

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Breast and/or ovarian cancer

Criteria Provided
Conflicting Classifications

CA7963752

rs_45447991

9 SubmittersRCV000220267 RCV000462094 RCV000759905 RCV003491976

NM_024675.4(PALB2):c.826C>T (p.His276Tyr)

SNV
Germline

Chr16:23635720

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA10580030

rs_876658815

2 SubmittersRCV000215431 RCV000544750

NM_024675.4(PALB2):c.773G>A (p.Ser258Asn)

SNV
Germline

Chr16:23635773

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7963758

rs_371289600

4 SubmittersRCV000215658 RCV000635854 RCV002485415

NM_024675.4(PALB2):c.619C>T (p.Pro207Ser)

SNV
Germline

Chr16:23635927

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA10580036

rs_374090568

2 SubmittersRCV000214926 RCV001370562

NM_024675.4(PALB2):c.595C>T (p.Leu199Phe)

SNV
Germline

Chr16:23635951

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA10580037

rs_876660851

3 SubmittersRCV000216403 RCV003765443

NM_024675.4(PALB2):c.583A>G (p.Ile195Val)

SNV
Germline

Chr16:23635963

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 5
Pancreatic cancer, susceptibility to, 3
Fanconi anemia complementation group N
Breast-ovarian cancer, familial, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA7963779

rs_760784181

8 SubmittersRCV000215618 RCV001030160 RCV001234307 RCV005016591 RCV005365161

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_024675.4(PALB2):c.347T>A (p.Leu116Ter)

SNV
Germline

Chr16:23636199

Pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA10580044

rs_876660465

5 SubmittersRCV000223009 RCV000709748 RCV003227721

NM_024675.4(PALB2):c.338C>G (p.Pro113Arg)

SNV
Germline

Chr16:23636208

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA7963798

rs_374425261

3 SubmittersRCV000219266 RCV000552379

NM_024675.4(PALB2):c.308G>A (p.Gly103Glu)

SNV
Germline

Chr16:23636238

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA10580046

rs_876660794

2 SubmittersRCV000222248 RCV001854715

NM_024675.4(PALB2):c.229T>C (p.Cys77Arg)

SNV
Germline

Chr16:23636317

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
not specified
Breast-ovarian cancer, familial, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA7963811

rs_760045493

11 SubmittersRCV000222033 RCV000472473 RCV000485885 RCV001818541 RCV005361343

NM_024675.4(PALB2):c.115C>T (p.Gln39Ter)

SNV
Germline

Chr16:23637946

Pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 5

Criteria Provided
Multiple Submitters
No Conflicts

CA10580053

rs_876659319

5 SubmittersRCV000223492 RCV000551161 RCV005868128

NM_004360.5(CDH1):c.871G>A (p.Asp291Asn)

SNV
Germline

Chr16:68811722

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary diffuse gastric adenocarcinoma
Familial cancer of breast
Familial cancer of breast
Ovarian cancer

Criteria Provided
Conflicting Classifications

CA10580095

rs_876660645

7 SubmittersRCV000222993 RCV000482281 RCV000694385 RCV004567656 RCV005361347

NM_004360.5(CDH1):c.1008G>A (p.Glu336=)

SNV
Germline

Chr16:68811859

Pathogenic

Hereditary cancer-predisposing syndrome
Hereditary diffuse gastric adenocarcinoma
CDH1-related diffuse gastric and lobular breast cancer syndrome
Familial cancer of breast

Reviewed By Expert Panel

CA10580100

rs_267606712

5 SubmittersRCV000217412 RCV000639283 RCV003328287 RCV005895038

NM_004360.5(CDH1):c.1097C>G (p.Thr366Ser)

SNV
Germline

Chr16:68812223

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary diffuse gastric adenocarcinoma
Condition: not provided
Familial cancer of breast
CDH1-related diffuse gastric and lobular breast cancer syndrome

Criteria Provided
Conflicting Classifications

CA10580103

rs_876660260

6 SubmittersRCV000217212 RCV000639237 RCV001800573 RCV003462516 RCV005361333

NM_004360.5(CDH1):c.1137+1G>A

SNV
Germline

Chr16:68812264

Pathogenic

Hereditary cancer-predisposing syndrome
Hereditary diffuse gastric adenocarcinoma
Condition: not provided
CDH1-related diffuse gastric and lobular breast cancer syndrome
Familial cancer of breast
CDH1-related disorder

Reviewed By Expert Panel

CA10580104

rs_876660771

8 SubmittersRCV000219632 RCV000230827 RCV000483444 RCV003328292 RCV003463595 RCV004739621

NM_004360.5(CDH1):c.1183A>G (p.Thr395Ala)

SNV
Germline

Chr16:68813358

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary diffuse gastric adenocarcinoma
Condition: not provided
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA8130019

rs_201135424

6 SubmittersRCV000221628 RCV000234350 RCV000485174 RCV003462489

NM_004360.5(CDH1):c.1509G>C (p.Gln503His)

SNV
Germline

Chr16:68815703

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary diffuse gastric adenocarcinoma
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA10580118

rs_876659548

5 SubmittersRCV000214119 RCV001043764 RCV004567590

NM_004360.5(CDH1):c.1906G>A (p.Ala636Thr)

SNV
Germline

Chr16:68822195

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary diffuse gastric adenocarcinoma
Condition: not provided
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA10580138

rs_876658950

6 SubmittersRCV000221626 RCV000693174 RCV003477727 RCV004760448

NM_004360.5(CDH1):c.2249A>G (p.Asp750Gly)

SNV
Germline

Chr16:68828258

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary diffuse gastric adenocarcinoma
Familial cancer of breast
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8130236

rs_759608783

6 SubmittersRCV000216187 RCV000554709 RCV003338467 RCV006259255

NM_004360.5(CDH1):c.2335C>T (p.Arg779Trp)

SNV
Germline

Chr16:68829693

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary diffuse gastric adenocarcinoma
Condition: not provided
not specified
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA10580159

rs_876660183

8 SubmittersRCV000218940 RCV000457635 RCV000484296 RCV000780099 RCV004567631

NM_004360.5(CDH1):c.2603G>A (p.Arg868His)

SNV
Germline

Chr16:68833453

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary diffuse gastric adenocarcinoma
Condition: not provided
not specified
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 1
Familial cancer of breast
Blepharocheilodontic syndrome 1
Endometrial carcinoma
Hereditary diffuse gastric adenocarcinoma
Ovarian cancer

Criteria Provided
Conflicting Classifications

CA8130312

rs_369126891

11 SubmittersRCV000218816 RCV000233357 RCV000485189 RCV001824693 RCV004567519 RCV005861083 RCV005016577

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.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.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.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.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.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.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.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_032043.3(BRIP1):c.3737C>T (p.Pro1246Leu)

SNV
Germline

Chr17:61683309

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group J
Familial cancer of breast
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10580767

rs_876660074

6 SubmittersRCV000222505 RCV000636105 RCV001262871 RCV004591002

NM_032043.3(BRIP1):c.3475G>A (p.Ala1159Thr)

SNV
Germline

Chr17:61683571

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Fanconi anemia complementation group J

Criteria Provided
Conflicting Classifications

CA10580771

rs_368610199

5 SubmittersRCV000222116 RCV000521348 RCV000808973

NM_032043.3(BRIP1):c.3277C>T (p.Leu1093Phe)

SNV
Germline

Chr17:61683769

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA10580779

rs_876660638

3 SubmittersRCV000217837 RCV003765440

NM_032043.3(BRIP1):c.3079G>A (p.Glu1027Lys)

SNV
Germline

Chr17:61683967

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA8690401

rs_371185409

10 SubmittersRCV000215643 RCV000484982 RCV001087512 RCV001818520 RCV005055091 RCV005361269 RCV004732795

NM_032043.3(BRIP1):c.2905+1G>A

SNV
Germline

Chr17:61685835

Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group J
Familial cancer of breast
Ovarian cancer
Fanconi anemia complementation group J

Criteria Provided
Multiple Submitters
No Conflicts

CA10580785

rs_876660203

4 SubmittersRCV000216911 RCV000555856 RCV003316227 RCV005430284

NM_032043.3(BRIP1):c.2686A>G (p.Ile896Val)

SNV
Germline

Chr17:61686055

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Fanconi anemia complementation group J
Breast and/or ovarian cancer

Criteria Provided
Conflicting Classifications

CA8690466

rs_764406913

6 SubmittersRCV000222623 RCV000481975 RCV000458509 RCV001798718

NM_032043.3(BRIP1):c.2554A>G (p.Asn852Asp)

SNV
Germline

Chr17:61693451

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group J
Condition: not provided
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA8690490

rs_745782331

6 SubmittersRCV000218071 RCV000556037 RCV001194713 RCV005868130

NM_032043.3(BRIP1):c.2053C>T (p.Gln685Ter)

SNV
Germline

Chr17:61776445

Pathogenic

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group J
Familial cancer of breast
Familial cancer of breast
Fanconi anemia complementation group J
Ovarian cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA10580817

rs_876659533

5 SubmittersRCV000223392 RCV001041952 RCV003316221 RCV005430281

NM_032043.3(BRIP1):c.1780T>G (p.Leu594Val)

SNV
Germline

Chr17:61780854

Likely pathogenic

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA10580828

rs_876658256

2 SubmittersRCV000218008 RCV001066364

NM_032043.3(BRIP1):c.1704T>G (p.Asn568Lys)

SNV
Germline

Chr17:61780930

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group J
Condition: not provided
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA8690685

rs_763458922

5 SubmittersRCV000221496 RCV000636144 RCV002291598 RCV003462435

NM_032043.3(BRIP1):c.1688A>G (p.Asp563Gly)

SNV
Germline

Chr17:61780946

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group J
Familial cancer of breast
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8690687

rs_577768294

7 SubmittersRCV000218250 RCV000227822 RCV002291600 RCV002222450 RCV003238743

NM_032043.3(BRIP1):c.1473+1G>A

SNV
Germline

Chr17:61793596

Likely pathogenic

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group J
Familial cancer of breast
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA10580841

rs_748274524

5 SubmittersRCV000216204 RCV001857773 RCV003335251

NM_032043.3(BRIP1):c.1283A>C (p.Asn428Thr)

SNV
Germline

Chr17:61799157

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group J
Condition: not provided
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA8690768

rs_779237423

6 SubmittersRCV000219872 RCV000559529 RCV001533933 RCV003462473

NM_032043.3(BRIP1):c.1045G>T (p.Ala349Ser)

SNV
Germline

Chr17:61801348

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10580847

rs_149364097

3 SubmittersRCV000213526 RCV001051721 RCV002466471

NM_032043.3(BRIP1):c.725A>G (p.Lys242Arg)

SNV
Germline

Chr17:61808660

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group J
Familial cancer of breast
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10580861

rs_876660647

5 SubmittersRCV000222563 RCV000545432 RCV001194706

NM_032043.3(BRIP1):c.627+5G>A

SNV
Germline

Chr17:61847096

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group J
Familial cancer of breast
not specified
Condition: not provided
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA8690897

rs_745727200

7 SubmittersRCV000218647 RCV000234365 RCV003150982 RCV002267958 RCV004567567

NM_032043.3(BRIP1):c.626A>G (p.Lys209Arg)

SNV
Germline

Chr17:61847102

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group J
Condition: not provided
Familial cancer of breast
Fanconi anemia complementation group J
not specified

Criteria Provided
Conflicting Classifications

CA10580865

rs_748912293

8 SubmittersRCV000220042 RCV000464761 RCV001561778 RCV002288845 RCV003144166 RCV003321547

NM_032043.3(BRIP1):c.618G>T (p.Ser206=)

SNV
Germline

Chr17:61847110

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Familial cancer of breast
Fanconi anemia complementation group J
Condition: not provided
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA10580866

rs_367614726

8 SubmittersRCV000216368 RCV000588898 RCV001433289 RCV001580083 RCV004786576

NM_032043.3(BRIP1):c.610T>G (p.Ser204Ala)

SNV
Germline

Chr17:61847118

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group J
Condition: not provided
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA8690902

rs_761401027

5 SubmittersRCV000220255 RCV000636121 RCV002307457 RCV004567628

NM_032043.3(BRIP1):c.533C>T (p.Thr178Ile)

SNV
Germline

Chr17:61847195

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10580871

rs_876658780

7 SubmittersRCV000219733 RCV000555022 RCV000478045

NM_032043.3(BRIP1):c.508-2A>T

SNV
Germline

Chr17:61847222

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA10580872

rs_876659707

3 SubmittersRCV000214929 RCV000695130 RCV003335258

NM_032043.3(BRIP1):c.507G>A (p.Gln169=)

SNV
Germline

Chr17:61849129

Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group J
Condition: not provided
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA10580873

rs_876660937

7 SubmittersRCV000220906 RCV000463637 RCV000486318 RCV003463607

NM_032043.3(BRIP1):c.465A>G (p.Gln155=)

SNV
Germline

Chr17:61849171

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group J
Condition: not provided
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA10580876

rs_876659453

4 SubmittersRCV000219816 RCV000636170 RCV001775686 RCV003462484

NM_032043.3(BRIP1):c.400C>A (p.Leu134Met)

SNV
Germline

Chr17:61849236

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group J
Familial cancer of breast
Condition: not provided
Familial ovarian cancer

Criteria Provided
Conflicting Classifications

CA10580879

rs_876658195

9 SubmittersRCV000221937 RCV000463838 RCV002466470 RCV002508202 RCV005600826

NM_032043.3(BRIP1):c.363T>A (p.Thr121=)

SNV
Germline

Chr17:61857074

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group J
Condition: not provided
Familial ovarian cancer
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA10580883

rs_876660306

6 SubmittersRCV000222928 RCV000473212 RCV003477759 RCV005361334 RCV004786602

NM_032043.3(BRIP1):c.362C>G (p.Thr121Ser)

SNV
Germline

Chr17:61857075

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8690958

rs_777630298

5 SubmittersRCV000216740 RCV000705215 RCV001800562

NM_032043.3(BRIP1):c.211C>T (p.Pro71Ser)

SNV
Germline

Chr17:61857226

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group J

Criteria Provided
Conflicting Classifications

CA10580890

rs_876659680

2 SubmittersRCV000217208 RCV001366040

NM_032043.3(BRIP1):c.93+5G>A

SNV
Germline

Chr17:61861442

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA10580895

rs_730881629

5 SubmittersRCV000214234 RCV001308700 RCV002288861

NM_032043.3(BRIP1):c.56A>G (p.Tyr19Cys)

SNV
Germline

Chr17:61861484

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group J
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA10580898

rs_876660880

5 SubmittersRCV000217783 RCV000636140 RCV003441804 RCV006268680

NM_032043.3(BRIP1):c.24T>A (p.Tyr8Ter)

SNV
Germline

Chr17:61861516

Pathogenic

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group J
Familial cancer of breast
Familial cancer of breast
Familial ovarian cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA8691019

rs_752411477

4 SubmittersRCV000216493 RCV001853547 RCV003335253 RCV005361294

NM_032043.3(BRIP1):c.10A>G (p.Met4Val)

SNV
Germline

Chr17:61861530

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group J
Malignant tumor of breast
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA10580900

rs_45512093

7 SubmittersRCV000216902 RCV000467101 RCV001354597 RCV003148687 RCV004767177

NM_000546.6(TP53):c.1073A>T (p.Glu358Val)

SNV
Germline

Chr17:7670636

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA000790

rs_773553186

9 SubmittersRCV000219841 RCV000249541 RCV000463320 RCV001557066 RCV005365151

NM_000546.6(TP53):c.329G>C (p.Arg110Pro)

SNV
Germline/somatic

Chr17:7676040

Pathogenic

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1
Adrenocortical carcinoma, hereditary
Familial cancer of breast
IDH-wildtype glioblastoma
Astrocytoma, IDH-mutant, grade 3
Neoplasm

Reviewed By Expert Panel

CA10580948

rs_11540654

9 SubmittersRCV000222678 RCV000231991 RCV002288889 RCV003462528 RCV004698486 RCV006253917 RCV006253918 RCV006273660

NM_007194.4(CHEK2):c.1618G>A (p.Ala540Thr)

SNV
Germline

Chr22:28687911

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA10581020

rs_767414081

2 SubmittersRCV000222912 RCV001338616

NM_007194.4(CHEK2):c.1593G>A (p.Glu531=)

SNV
Germline

Chr22:28687936

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Familial cancer of breast
Condition: not provided
CHEK2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA10167604

rs_758555487

10 SubmittersRCV000214895 RCV000440523 RCV000465325 RCV001711509 RCV005414483

NM_007194.4(CHEK2):c.1591G>A (p.Glu531Lys)

SNV
Germline

Chr22:28687938

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA10167605

rs_587781710

7 SubmittersRCV000214317 RCV000470987 RCV001762482 RCV003230457

NM_007194.4(CHEK2):c.1486C>T (p.Gln496Ter)

SNV
Germline

Chr22:28689191

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Familial prostate cancer
CHEK2-related cancer predisposition
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Multiple Submitters
No Conflicts

CA10167625

rs_756250205

12 SubmittersRCV000219822 RCV000469433 RCV000483345 RCV002282053 RCV005414481 RCV005861084

NM_007194.4(CHEK2):c.1462-3C>T

SNV
Germline

Chr22:28689218

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10581025

rs_876658673

3 SubmittersRCV000219786 RCV000526712 RCV004772867

NM_007194.4(CHEK2):c.1459C>T (p.Gln487Ter)

SNV
Germline

Chr22:28694034

Pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA10581026

rs_876659250

4 SubmittersRCV000214536 RCV000657722 RCV000699485

NM_007194.4(CHEK2):c.1452G>A (p.Pro484=)

SNV
Germline

Chr22:28694041

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Familial cancer of breast
Condition: not provided
CHEK2-related cancer predisposition
Hereditary nonpolyposis colon cancer

Criteria Provided
Conflicting Classifications

CA10167654

rs_749156425

13 SubmittersRCV000215406 RCV000432175 RCV000990385 RCV001712100 RCV005414480 RCV005361271

NM_007194.4(CHEK2):c.1402G>A (p.Val468Ile)

SNV
Germline

Chr22:28694091

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA10581028

rs_876660084

4 SubmittersRCV000223247 RCV000471573

NM_007194.4(CHEK2):c.1376-1G>A

SNV
Germline

Chr22:28694118

Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA10581034

rs_876659287

2 SubmittersRCV000217905 RCV001230274

NM_007194.4(CHEK2):c.1315C>T (p.Gln439Ter)

SNV
Germline

Chr22:28695187

Pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA10581042

rs_778989252

8 SubmittersRCV000217777 RCV000255686 RCV000576345

NM_007194.4(CHEK2):c.1259G>A (p.Cys420Tyr)

SNV
Germline

Chr22:28695710

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10581044

rs_578218280

8 SubmittersRCV000217861 RCV000485639 RCV000539842 RCV000766899 RCV005361345

NM_007194.4(CHEK2):c.1095+1G>A

SNV
Germline

Chr22:28696900

Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA10167734

rs_768172525

7 SubmittersRCV000215927 RCV000468038 RCV000520428

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_007194.4(CHEK2):c.792+5G>A

SNV
Germline

Chr22:28711904

Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA10581076

rs_876658514

2 SubmittersRCV000213857 RCV001853514

NM_007194.4(CHEK2):c.417C>T (p.Tyr139=)

SNV
Germline

Chr22:28725270

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Familial cancer of breast
CHEK2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA10581097

rs_200917541

6 SubmittersRCV000221424 RCV000418461 RCV000635982 RCV005414485

NM_007194.4(CHEK2):c.356A>G (p.Lys119Arg)

SNV
Germline

Chr22:28725331

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA10168014

rs_373648967

2 SubmittersRCV000215367 RCV001202841

NM_007194.4(CHEK2):c.335A>G (p.Asn112Ser)

SNV
Germline

Chr22:28725352

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA10581103

rs_876660788

9 SubmittersRCV000222533 RCV000232766 RCV000586880 RCV003235148

NM_007194.4(CHEK2):c.304G>T (p.Gly102Ter)

SNV
Germline

Chr22:28734418

Pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA10581105

rs_876659833

2 SubmittersRCV000218820 RCV001212505

NM_007194.4(CHEK2):c.254C>G (p.Pro85Arg)

SNV
Germline

Chr22:28734468

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA10581107

rs_17883862

8 SubmittersRCV000214627 RCV000226448 RCV000657033 RCV003230460

NM_007194.4(CHEK2):c.215A>G (p.Tyr72Cys)

SNV
Germline

Chr22:28734507

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
not specified

Criteria Provided
Conflicting Classifications

CA10168058

rs_769819013

6 SubmittersRCV000213236 RCV000318548 RCV000475066 RCV001420839

NM_007194.4(CHEK2):c.138G>A (p.Met46Ile)

SNV
Germline

Chr22:28734584

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA10581111

rs_876660873

3 SubmittersRCV000216282 RCV000536362

NM_007194.4(CHEK2):c.132C>T (p.Ser44=)

SNV
Germline

Chr22:28734590

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10168071

rs_199715101

8 SubmittersRCV000220064 RCV000459450 RCV000444042 RCV000512899

NM_007194.4(CHEK2):c.24G>T (p.Glu8Asp)

SNV
Germline

Chr22:28734698

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10168084

rs_780920036

5 SubmittersRCV000213815 RCV000635939 RCV003238741

NM_001368809.2(AMPD2):c.1081-8C>A

SNV
Germline

Chr1:109628075

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 63
Pontocerebellar hypoplasia type 9
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA993026

rs_145268448

3 SubmittersRCV000224507 RCV001399673 RCV005895102

NM_000465.4(BARD1):c.2237A>G (p.His746Arg)

SNV
Germline

Chr2:214728773

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10581918

rs_878854007

2 SubmittersRCV000230635 RCV002429098

NM_000465.4(BARD1):c.2146A>G (p.Thr716Ala)

SNV
Germline

Chr2:214728864

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10581919

rs_878854006

7 SubmittersRCV000226287 RCV000568622 RCV000780943 RCV001574891

NM_000465.4(BARD1):c.1247T>G (p.Leu416Arg)

SNV
Germline

Chr2:214780627

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Hepatoblastoma

Criteria Provided
Conflicting Classifications

CA10581930

rs_878853996

12 SubmittersRCV000227805 RCV000564518 RCV001566238 RCV001553565 RCV001843497

NM_000465.4(BARD1):c.1172C>G (p.Ser391Ter)

SNV
Germline

Chr2:214780702

Pathogenic/Likely pathogenic

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA10581931

rs_878853995

3 SubmittersRCV000231412 RCV003584574

NM_000465.4(BARD1):c.1007G>A (p.Cys336Tyr)

SNV
Germline

Chr2:214780867

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2090348

rs_779527817

9 SubmittersRCV000230578 RCV000561387 RCV002298544 RCV003441808

NM_000465.4(BARD1):c.382C>T (p.Pro128Ser)

SNV
Germline

Chr2:214781492

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA10581940

rs_878854011

7 SubmittersRCV000228060 RCV000563282 RCV001354376 RCV003387815

NM_000465.4(BARD1):c.93C>G (p.Arg31=)

SNV
Germline

Chr2:214809477

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
BARD1-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA2090518

rs_778803692

8 SubmittersRCV000231602 RCV000565230 RCV001697225 RCV003955310 RCV006268686

NM_000465.4(BARD1):c.59C>T (p.Pro20Leu)

SNV
Germline

Chr2:214809511

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
BARD1-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA2090528

rs_753686197

6 SubmittersRCV000233249 RCV000774689 RCV005251102 RCV005600853

NM_000051.4(ATM):c.986G>A (p.Arg329Lys)

SNV
Germline

Chr11:108247048

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast
Condition: not provided
Familial cancer of breast
ATM-related disorder

Criteria Provided
Conflicting Classifications

CA6264714

rs_776938735

11 SubmittersRCV000227018 RCV000574680 RCV003224232 RCV003441806 RCV003463634 RCV004739628

NM_000051.4(ATM):c.1240C>T (p.Gln414Ter)

SNV
Germline

Chr11:108250705

Pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA10582793

rs_866521873

6 SubmittersRCV000230144 RCV000579465 RCV003463627

NM_000051.4(ATM):c.1468A>G (p.Ile490Val)

SNV
Germline

Chr11:108250933

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast
ATM-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA6264818

rs_761850075

6 SubmittersRCV000227312 RCV001011720 RCV003469120 RCV005365174

NM_000051.4(ATM):c.1903C>T (p.His635Tyr)

SNV
Germline

Chr11:108253818

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA6264910

rs_761491947

5 SubmittersRCV000229138 RCV000562554 RCV005365175

NM_000051.4(ATM):c.2075G>A (p.Arg692His)

SNV
Germline

Chr11:108253990

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA6264924

rs_751515818

6 SubmittersRCV000228332 RCV001014336 RCV003343712

NM_000051.4(ATM):c.2222A>G (p.Tyr741Cys)

SNV
Germline

Chr11:108256312

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Breast and/or ovarian cancer

Criteria Provided
Conflicting Classifications

CA10582802

rs_878853492

10 SubmittersRCV000226596 RCV000572488 RCV000589621 RCV003469123 RCV003491991

NM_000051.4(ATM):c.2250+7G>A

SNV
Germline

Chr11:108256347

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Condition: not provided
Familial cancer of breast
ATM-related disorder

Criteria Provided
Conflicting Classifications

CA10582803

rs_752009031

4 SubmittersRCV000229375 RCV003482245 RCV004591048 RCV004739626

NM_000051.4(ATM):c.2467-7C>T

SNV
Germline

Chr11:108267164

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Malignant tumor of breast
Familial cancer of breast
not specified

Criteria Provided
Conflicting Classifications

CA6265046

rs_768850329

11 SubmittersRCV000587579 RCV000579933 RCV001080098 RCV001354655 RCV004591050 RCV005406973

NM_000051.4(ATM):c.2925T>C (p.Asn975=)

SNV
Germline

Chr11:108271254

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast
ATM-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA6265160

rs_765848319

5 SubmittersRCV000227449 RCV000561101 RCV004591051 RCV005361365

NM_000051.4(ATM):c.2978A>G (p.His993Arg)

SNV
Germline

Chr11:108271307

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
ATM-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA10582807

rs_878853498

7 SubmittersRCV000227768 RCV000573991 RCV001566623 RCV003475053 RCV005361366

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_000051.4(ATM):c.4091A>G (p.Asp1364Gly)

SNV
Germline

Chr11:108287697

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Malignant tumor of breast
not specified
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA6265393

rs_751169467

14 SubmittersRCV000233318 RCV000295039 RCV000575696 RCV001356547 RCV001532978 RCV005868142

NM_000051.4(ATM):c.4396C>T (p.Arg1466Ter)

SNV
Germline

Chr11:108289761

Pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Ataxia-telangiectasia syndrome
Familial cancer of breast
Malignant tumor of breast
Familial cancer of breast
Gastric cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA6265441

rs_730881369

15 SubmittersRCV000227538 RCV000445657 RCV000657608 RCV000762821 RCV001356094 RCV003463629 RCV003165589

NM_000051.4(ATM):c.4436+10A>G

SNV
Germline

Chr11:108289811

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
not specified
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA10582817

rs_878853509

7 SubmittersRCV000230380 RCV000429871 RCV000582282 RCV004591058

NM_000051.4(ATM):c.4784A>G (p.Asn1595Ser)

SNV
Germline

Chr11:108294934

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6265557

rs_777812804

8 SubmittersRCV000231590 RCV000575403 RCV000586254 RCV003469126 RCV006452529

NM_000051.4(ATM):c.4825A>G (p.Thr1609Ala)

SNV
Germline

Chr11:108294975

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
not specified
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA6265562

rs_761197886

4 SubmittersRCV000226566 RCV000573693 RCV004701303 RCV005361368

NM_000051.4(ATM):c.5144T>C (p.Leu1715Pro)

SNV
Germline

Chr11:108299852

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6265633

rs_747800057

9 SubmittersRCV000233443 RCV000481313 RCV000579553 RCV003469127

NM_000051.4(ATM):c.7563C>G (p.Tyr2521Ter)

SNV
Germline

Chr11:108331491

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Familial cancer of breast
Malignant tumor of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10582854

rs_772228129

4 SubmittersRCV000230138 RCV004020738 RCV004689687 RCV005732071

NM_000051.4(ATM):c.7788G>T (p.Glu2596Asp)

SNV
Germline

Chr11:108332037

Pathogenic/Likely pathogenic

Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA10582857

rs_587780639

2 SubmittersRCV000227156 RCV003454687

NM_000051.4(ATM):c.8011-6T>G

SNV
Germline

Chr11:108334963

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6266263

rs_762092284

6 SubmittersRCV000234012 RCV000481088 RCV000776130 RCV001171475 RCV005396739

NM_000051.4(ATM):c.8268+6T>A

SNV
Germline

Chr11:108335967

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6266326

rs_747153940

6 SubmittersRCV000229843 RCV000584183 RCV001697224 RCV004689688 RCV005361371

NM_000051.4(ATM):c.8391T>C (p.Ser2797=)

SNV
Germline

Chr11:108343344

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
not specified
Hereditary cancer-predisposing syndrome
Endometrial carcinoma
Breast and/or ovarian cancer
ATM-related disorder
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA6266355

rs_566485657

12 SubmittersRCV000233368 RCV000423464 RCV000573042 RCV001357039 RCV003491992 RCV004547578 RCV004591076

NM_000051.4(ATM):c.8993T>C (p.Ile2998Thr)

SNV
Germline

Chr11:108365330

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Ataxia-telangiectasia syndrome
Familial cancer of breast
Familial cancer of breast
ATM-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA6266514

rs_778670498

10 SubmittersRCV000227223 RCV000569551 RCV000590595 RCV002057232 RCV003153520 RCV005361372

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.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.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.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.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_001113378.2(FANCI):c.753C>T (p.Asp251=)

SNV
Germline

Chr15:89264605

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group I
Condition: not provided
Ovarian serous cystadenocarcinoma
Thyroid cancer, nonmedullary, 1
Familial cancer of breast
Uterine corpus endometrial carcinoma
Gastric cancer

Criteria Provided
Conflicting Classifications

CA7722741

rs_151169233

11 SubmittersRCV000233693 RCV001094367 RCV001572978 RCV005895240 RCV005895241 RCV005895238 RCV005895242 RCV005895239

NM_024675.4(PALB2):c.3420G>A (p.Trp1140Ter)

SNV
Germline

Chr16:23603600

Pathogenic/Likely pathogenic

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA10583349

rs_878855118

2 SubmittersRCV000226507 RCV004020882

NM_024675.4(PALB2):c.2964A>G (p.Gln988=)

SNV
Germline

Chr16:23623001

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
PALB2-related disorder

Criteria Provided
Conflicting Classifications

CA7963460

rs_777244673

6 SubmittersRCV000229549 RCV000563128 RCV000759903 RCV001192741 RCV004725117

NM_024675.4(PALB2):c.2840T>C (p.Leu947Ser)

SNV
Germline

Chr16:23623125

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA7963465

rs_45464500

10 SubmittersRCV000229185 RCV000564890 RCV000587839 RCV005003582 RCV005238770 RCV005055099

NM_024675.4(PALB2):c.2624T>C (p.Met875Thr)

SNV
Germline

Chr16:23626360

Conflicting classifications of pathogenicity

Familial cancer of breast
not specified
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10583359

rs_878855110

3 SubmittersRCV000231157 RCV000780566 RCV004649110

NM_024675.4(PALB2):c.2594C>G (p.Ser865Ter)

SNV
Germline

Chr16:23626390

Pathogenic

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA10583360

rs_746604683

3 SubmittersRCV000234617 RCV003352808

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_024675.4(PALB2):c.2201C>A (p.Thr734Asn)

SNV
Germline

Chr16:23629953

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10583365

rs_878855107

17 SubmittersRCV000233965 RCV000569446 RCV001119746 RCV001566044 RCV001820767 RCV002487088 RCV004739637 RCV005361461

NM_024675.4(PALB2):c.2066C>T (p.Ser689Leu)

SNV
Germline

Chr16:23630088

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
PALB2-related disorder

Criteria Provided
Conflicting Classifications

CA7963627

rs_749602688

6 SubmittersRCV000228021 RCV000774634 RCV001030274 RCV004541455

NM_024675.4(PALB2):c.1753G>A (p.Asp585Asn)

SNV
Germline

Chr16:23630401

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10583370

rs_878855102

5 SubmittersRCV000227668 RCV000773064 RCV002277593

NM_024675.4(PALB2):c.1463G>T (p.Ser488Ile)

SNV
Germline

Chr16:23635083

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
Pancreatic cancer, susceptibility to, 3
Familial cancer of breast
Fanconi anemia complementation group N

Criteria Provided
Conflicting Classifications

CA7963705

rs_767926590

8 SubmittersRCV000226177 RCV000564692 RCV000589383 RCV002487087

NM_024675.4(PALB2):c.1369G>T (p.Glu457Ter)

SNV
Germline

Chr16:23635177

Pathogenic

Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA10583374

rs_878855099

2 SubmittersRCV000231944

NM_024675.4(PALB2):c.1226A>G (p.Tyr409Cys)

SNV
Germline

Chr16:23635320

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary cancer

Criteria Provided
Conflicting Classifications

CA10583375

rs_878855097

7 SubmittersRCV000230943 RCV000709387 RCV000985884 RCV003492015

NM_024675.4(PALB2):c.365A>G (p.Asp122Gly)

SNV
Germline

Chr16:23636181

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10583383

rs_866367185

4 SubmittersRCV000232654 RCV001189069 RCV004721317

NM_024675.4(PALB2):c.212-3C>T

SNV
Germline

Chr16:23636337

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10583385

rs_878855106

3 SubmittersRCV000228404 RCV000569563

NM_024675.4(PALB2):c.79G>T (p.Glu27Ter)

SNV
Germline/somatic

Chr16:23638099

Pathogenic/Likely pathogenic

Familial cancer of breast
Condition: not provided
Hereditary cancer-predisposing syndrome
Malignant tumor of breast
Lung cancer
Pancreatic cancer, susceptibility to, 3
Familial cancer of breast
Fanconi anemia complementation group N
PALB2-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA10583387

rs_878855122

16 SubmittersRCV000228882 RCV000255635 RCV000454231 RCV001175093 RCV002282082 RCV002500815 RCV004532964

NM_024675.4(PALB2):c.48+7G>C

SNV
Germline

Chr16:23641103

Conflicting classifications of pathogenicity

Familial cancer of breast
not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
PALB2-related disorder

Criteria Provided
Conflicting Classifications

CA7963885

rs_190626072

10 SubmittersRCV000230746 RCV000433452 RCV000580140 RCV000586925 RCV004541457

NM_024675.4(PALB2):c.7G>T (p.Glu3Ter)

SNV
Germline

Chr16:23641151

Pathogenic

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
PALB2-related cancer predisposition
Breast-ovarian cancer, familial, susceptibility to, 5

Reviewed By Expert Panel

CA10583388

rs_878855123

9 SubmittersRCV000231797 RCV000582525 RCV000657770 RCV005639046 RCV006261741

NM_024675.4(PALB2):c.2T>C (p.Met1Thr)

SNV
Germline

Chr16:23641156

Pathogenic/Likely pathogenic

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA7963891

rs_756519825

4 SubmittersRCV000230496 RCV002436040

NM_004360.5(CDH1):c.220C>T (p.Arg74Ter)

SNV
Germline

Chr16:68801726

Pathogenic

Hereditary diffuse gastric adenocarcinoma
Hereditary cancer-predisposing syndrome
6 conditions
Condition: not provided
CDH1-related diffuse gastric and lobular breast cancer syndrome
Familial cancer of breast

Reviewed By Expert Panel

CA10583404

rs_876658932

10 SubmittersRCV000227616 RCV000567709 RCV000763384 RCV003223631 RCV003328305 RCV003475082

NM_004360.5(CDH1):c.388-4T>C

SNV
Germline

Chr16:68808420

Conflicting classifications of pathogenicity

Hereditary diffuse gastric adenocarcinoma
Hereditary cancer-predisposing syndrome
not specified
Breast and/or ovarian cancer
Familial cancer of breast
Ovarian cancer

Criteria Provided
Conflicting Classifications

CA8129862

rs_750722169

8 SubmittersRCV000230716 RCV000572124 RCV000604379 RCV001798739 RCV005361420

NM_004360.5(CDH1):c.488G>C (p.Cys163Ser)

SNV
Germline

Chr16:68808524

Conflicting classifications of pathogenicity

Hereditary diffuse gastric adenocarcinoma
Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Hereditary diffuse gastric adenocarcinoma
Familial cancer of breast
Blepharocheilodontic syndrome 1
Endometrial carcinoma
Ovarian cancer
CDH1-related diffuse gastric and lobular breast cancer syndrome

Criteria Provided
Conflicting Classifications

CA8129869

rs_748783182

9 SubmittersRCV000228101 RCV000484023 RCV000574597 RCV004567742 RCV005016639 RCV005361421

NM_004360.5(CDH1):c.1526C>A (p.Thr509Asn)

SNV
Germline

Chr16:68815720

Conflicting classifications of pathogenicity

Hereditary diffuse gastric adenocarcinoma
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
not specified

Criteria Provided
Conflicting Classifications

CA8130090

rs_771551231

9 SubmittersRCV000232572 RCV000571668 RCV000679562 RCV003463665 RCV006263788

NM_004360.5(CDH1):c.2458A>G (p.Thr820Ala)

SNV
Germline

Chr16:68833308

Conflicting classifications of pathogenicity

Hereditary diffuse gastric adenocarcinoma
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA10583423

rs_878854685

5 SubmittersRCV000228053 RCV001015601 RCV004567741

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.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.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_032043.3(BRIP1):c.3262C>T (p.His1088Tyr)

SNV
Germline

Chr17:61683784

Conflicting classifications of pathogenicity

Familial cancer of breast
Fanconi anemia complementation group J
Hereditary cancer-predisposing syndrome
Condition: not provided
Malignant tumor of breast
BRIP1-related disorder

Criteria Provided
Conflicting Classifications

CA10583613

rs_878855154

9 SubmittersRCV000228140 RCV000564840 RCV001284120 RCV001354748 RCV004532967

NM_032043.3(BRIP1):c.3122T>C (p.Met1041Thr)

SNV
Germline

Chr17:61683924

Conflicting classifications of pathogenicity

Fanconi anemia complementation group J
Familial cancer of breast
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA8690394

rs_761225576

4 SubmittersRCV000233906 RCV000989983 RCV001175823

NM_032043.3(BRIP1):c.2479C>T (p.Gln827Ter)

SNV
Germline

Chr17:61715964

Pathogenic

Familial cancer of breast
Fanconi anemia complementation group J
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA10583622

rs_786203898

4 SubmittersRCV000229009 RCV000580273 RCV003335280

NM_032043.3(BRIP1):c.2238C>A (p.Ile746=)

SNV
Germline

Chr17:61744451

Conflicting classifications of pathogenicity

Fanconi anemia complementation group J
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA10583623

rs_876660416

5 SubmittersRCV000230937 RCV001183557 RCV003332156 RCV004786626

NM_032043.3(BRIP1):c.2138T>G (p.Leu713Ter)

SNV
Germline

Chr17:61744551

Pathogenic

Fanconi anemia complementation group J
Familial cancer of breast
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA10583625

rs_878855145

2 SubmittersRCV000229169 RCV003335279

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_032043.3(BRIP1):c.1936-2A>G

SNV
Germline

Chr17:61776564

Pathogenic/Likely pathogenic

Fanconi anemia complementation group J
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group J

Criteria Provided
Multiple Submitters
No Conflicts

CA10583628

rs_878855143

3 SubmittersRCV000232507 RCV001013770 RCV001782726

NM_032043.3(BRIP1):c.1368T>C (p.Leu456=)

SNV
Germline

Chr17:61793702

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10583633

rs_878855138

9 SubmittersRCV000231517 RCV000570575 RCV000601594 RCV004786622 RCV004532965 RCV004999161

NM_032043.3(BRIP1):c.1170C>T (p.Val390=)

SNV
Germline

Chr17:61799270

Conflicting classifications of pathogenicity

Familial cancer of breast
Fanconi anemia complementation group J
Hereditary cancer-predisposing syndrome
Malignant tumor of breast
Condition: not provided
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA8690778

rs_754755989

7 SubmittersRCV000234456 RCV000574241 RCV001356030 RCV001582791 RCV004791364

NM_032043.3(BRIP1):c.357T>A (p.Asn119Lys)

SNV
Germline

Chr17:61857080

Conflicting classifications of pathogenicity

Fanconi anemia complementation group J
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10583641

rs_786202477

2 SubmittersRCV000229479 RCV004020884

NM_007194.4(CHEK2):c.1269G>T (p.Gly423=)

SNV
Germline

Chr22:28695233

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10167684

rs_749368980

4 SubmittersRCV000229695 RCV000561613 RCV004999153

NM_007194.4(CHEK2):c.1072C>T (p.Gln358Ter)

SNV
Germline

Chr22:28696924

Pathogenic

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA10583903

rs_878854909

6 SubmittersRCV000229454 RCV000568332 RCV001795369

NM_007194.4(CHEK2):c.847-1G>A

SNV
Germline

Chr22:28703567

Likely pathogenic

Familial cancer of breast
Breast carcinoma
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA10583906

rs_878854926

5 SubmittersRCV000227592 RCV001579299 RCV002444910

NM_007194.4(CHEK2):c.762G>T (p.Arg254Ser)

SNV
Germline

Chr22:28711939

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10583909

rs_878854922

4 SubmittersRCV000230229 RCV000573507

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_007194.4(CHEK2):c.208G>T (p.Glu70Ter)

SNV
Germline

Chr22:28734514

Pathogenic

Familial cancer of breast
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA10583916

rs_878854917

3 SubmittersRCV000228482 RCV001782725 RCV005801761

NM_000465.4(BARD1):c.2242G>A (p.Glu748Lys)

SNV
Germline

Chr2:214728768

Conflicting classifications of pathogenicity

Condition: not provided
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10584170

rs_879253880

3 SubmittersRCV000236030 RCV001337193 RCV005771959

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.1314+14T>C

SNV
Germline

Chr2:214780546

Conflicting classifications of pathogenicity

Condition: not provided
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA10584177

rs_879254117

2 SubmittersRCV000235524 RCV006612276

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.760A>C (p.Ile254Leu)

SNV
Germline

Chr2:214781114

Conflicting classifications of pathogenicity

Condition: not provided
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10584180

rs_879253984

5 SubmittersRCV000236884 RCV000558386 RCV000569631

NM_000465.4(BARD1):c.304G>A (p.Asp102Asn)

SNV
Germline

Chr2:214792357

Conflicting classifications of pathogenicity

Condition: not provided
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10584182

rs_140254589

4 SubmittersRCV000586120 RCV000635867 RCV001018325

NM_000465.4(BARD1):c.161C>G (p.Thr54Ser)

SNV
Germline

Chr2:214797115

Conflicting classifications of pathogenicity

Condition: not provided
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Breast and/or ovarian cancer

Criteria Provided
Conflicting Classifications

CA10584183

rs_879253878

5 SubmittersRCV000236536 RCV000463541 RCV000571266 RCV003492016

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_000465.4(BARD1):c.102G>A (p.Trp34Ter)

SNV
Germline

Chr2:214809468

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA10584185

rs_879254280

6 SubmittersRCV000236996 RCV000575860 RCV000699165

NM_000051.4(ATM):c.1112C>T (p.Thr371Ile)

SNV
Germline

Chr11:108248979

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10584322

rs_879254289

8 SubmittersRCV000236757 RCV000460140 RCV000565895 RCV005044499

NM_000051.4(ATM):c.1463G>A (p.Trp488Ter)

SNV
Germline

Chr11:108250928

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA10584324

rs_879254093

8 SubmittersRCV000236088 RCV000476772 RCV001689762 RCV004020929

NM_000051.4(ATM):c.1918A>T (p.Lys640Ter)

SNV
Germline

Chr11:108253833

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA10584327

rs_879254190

5 SubmittersRCV000237008 RCV001013694 RCV001221172 RCV002494679 RCV004020934

NM_000051.4(ATM):c.2251-7A>G

SNV
Germline

Chr11:108257474

Conflicting classifications of pathogenicity

Condition: not provided
Ataxia-telangiectasia syndrome
ATM-related disorder
Familial cancer of breast
not specified

Criteria Provided
Conflicting Classifications

CA10584330

rs_879254103

5 SubmittersRCV000237040 RCV001078625 RCV004725124 RCV004591094 RCV005238780

NM_000051.4(ATM):c.2498G>C (p.Gly833Ala)

SNV
Germline

Chr11:108267202

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6265051

rs_552010421

5 SubmittersRCV000236450 RCV000773240 RCV001051136 RCV004567775

NM_000051.4(ATM):c.2636T>C (p.Ile879Thr)

SNV
Germline

Chr11:108267340

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6265070

rs_746265230

7 SubmittersRCV000235396 RCV000456860 RCV000562612 RCV002288935

NM_000051.4(ATM):c.2662G>T (p.Glu888Ter)

SNV
Germline

Chr11:108268433

Pathogenic/Likely pathogenic

Condition: not provided
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA10584333

rs_879254083

2 SubmittersRCV000235692 RCV004020928

NM_000051.4(ATM):c.4109+1G>T

SNV
Germline

Chr11:108287716

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA10584341

rs_879254034

7 SubmittersRCV000235964 RCV001378173 RCV002321904 RCV003469183 RCV005044492

NM_000051.4(ATM):c.4631A>G (p.Tyr1544Cys)

SNV
Germline

Chr11:108293332

Conflicting classifications of pathogenicity

Condition: not provided
Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
not specified
Familial cancer of breast
ATM-related disorder

Criteria Provided
Conflicting Classifications

CA6265523

rs_779718362

15 SubmittersRCV000236361 RCV000471874 RCV000566756 RCV000780886 RCV003469180 RCV004739639

NM_000051.4(ATM):c.5414G>A (p.Trp1805Ter)

SNV
Germline/somatic

Chr11:108302947

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA10584348

rs_879254171

8 SubmittersRCV000235544 RCV000674524 RCV001182325 RCV004020932 RCV004668871 RCV005044494

NM_000051.4(ATM):c.5573G>A (p.Trp1858Ter)

SNV
Germline

Chr11:108304751

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA10584352

rs_879254076

8 SubmittersRCV000236378 RCV000628037 RCV002347925 RCV004020927

NM_000051.4(ATM):c.5623C>T (p.Arg1875Ter)

SNV
Germline

Chr11:108304801

Pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast
Ataxia-telangiectasia syndrome
Breast cancer, susceptibility to
Inherited breast cancer and ovarian cancer
ATM-related cancer predisposition

Criteria Provided
Multiple Submitters
No Conflicts

CA6265737

rs_376603775

17 SubmittersRCV000236653 RCV000493350 RCV000540911 RCV001257477 RCV001258120 RCV006439865 RCV006554508

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_000051.4(ATM):c.6975+2T>C

SNV
Germline

Chr11:108326227

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA10584360

rs_879254199

5 SubmittersRCV000235948 RCV000582576 RCV004020935 RCV003605616

NM_000051.4(ATM):c.7449G>A (p.Trp2483Ter)

SNV
Germline

Chr11:108330355

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA6266108

rs_773516672

7 SubmittersRCV000236176 RCV000573086 RCV001203956 RCV003469182

NM_000051.4(ATM):c.8265T>G (p.Tyr2755Ter)

SNV
Germline

Chr11:108335958

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA10584371

rs_758654836

5 SubmittersRCV000237049 RCV001854865 RCV002429152 RCV004020930 RCV005860049

NM_024675.4(PALB2):c.3492G>A (p.Trp1164Ter)

SNV
Germline

Chr16:23603528

Pathogenic

Condition: not provided
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA10584499

rs_587782217

8 SubmittersRCV000235984 RCV000662671 RCV001020433

NM_024675.4(PALB2):c.3491G>A (p.Trp1164Ter)

SNV
Germline

Chr16:23603529

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA10584500

rs_879254113

6 SubmittersRCV000235914 RCV000454361 RCV000477362

NM_024675.4(PALB2):c.3436C>G (p.Gln1146Glu)

SNV
Germline

Chr16:23603584

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA10584501

rs_879254033

4 SubmittersRCV000236192 RCV001183519 RCV001854872

NM_024675.4(PALB2):c.2996+5G>T

SNV
Germline

Chr16:23622964

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
PALB2-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA10584507

rs_879254193

11 SubmittersRCV000562437 RCV000468560 RCV000587970 RCV004541468 RCV005238783

NM_024675.4(PALB2):c.2860G>T (p.Glu954Ter)

SNV
Germline

Chr16:23623105

Pathogenic

Condition: not provided
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA10584509

rs_879254015

2 SubmittersRCV000235480 RCV001854860

NM_024675.4(PALB2):c.2435C>T (p.Pro812Leu)

SNV
Germline

Chr16:23629719

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Malignant tumor of breast
Pancreatic cancer, susceptibility to, 3
Familial cancer of breast
Fanconi anemia complementation group N
not specified

Criteria Provided
Conflicting Classifications

CA7963575

rs_774502617

10 SubmittersRCV000235316 RCV000575251 RCV000635929 RCV001357974 RCV002494681 RCV003330604

NM_024675.4(PALB2):c.2197A>G (p.Thr733Ala)

SNV
Germline

Chr16:23629957

Conflicting classifications of pathogenicity

Condition: not provided
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Pancreatic cancer, susceptibility to, 3
Familial cancer of breast
Fanconi anemia complementation group N
not specified

Criteria Provided
Conflicting Classifications

CA10584511

rs_879254051

7 SubmittersRCV000236085 RCV000470751 RCV000571493 RCV002487097 RCV005230178

NM_024675.4(PALB2):c.2148T>A (p.Asn716Lys)

SNV
Germline

Chr16:23630006

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

Criteria Provided
Conflicting Classifications

CA7963617

rs_770145849

8 SubmittersRCV000236038 RCV000464776 RCV000574979 RCV002479940

NM_024675.4(PALB2):c.2066C>A (p.Ser689Ter)

SNV
Germline

Chr16:23630088

Pathogenic

Condition: not provided
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA10584512

rs_749602688

3 SubmittersRCV000236381 RCV003454716 RCV002418041

NM_024675.4(PALB2):c.2053A>C (p.Lys685Gln)

SNV
Germline

Chr16:23630101

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA10584513

rs_876660397

5 SubmittersRCV000235440 RCV000566295 RCV001854851

NM_024675.4(PALB2):c.1861C>A (p.Pro621Thr)

SNV
Germline

Chr16:23630293

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast
not specified

Criteria Provided
Conflicting Classifications

CA7963654

rs_756116550

10 SubmittersRCV000235273 RCV000454184 RCV000989565 RCV001192764

NM_024675.4(PALB2):c.668T>C (p.Ile223Thr)

SNV
Germline

Chr16:23635878

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast
not specified

Criteria Provided
Conflicting Classifications

CA7963771

rs_150517167

8 SubmittersRCV000236902 RCV000572381 RCV000635688 RCV001193466

NM_024675.4(PALB2):c.472C>T (p.Gln158Ter)

SNV
Germline

Chr16:23636074

Pathogenic/Likely pathogenic

Condition: not provided
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA10584523

rs_879254197

5 SubmittersRCV000237059 RCV001382726 RCV005692190

NM_024675.4(PALB2):c.398G>A (p.Ser133Asn)

SNV
Germline

Chr16:23636148

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast
not specified

Criteria Provided
Conflicting Classifications

CA10584524

rs_864622411

6 SubmittersRCV000235826 RCV000570939 RCV000691656 RCV000780568

NM_024675.4(PALB2):c.205C>T (p.His69Tyr)

SNV
Germline

Chr16:23637856

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast
not specified
Pancreatic cancer, susceptibility to, 3
Familial cancer of breast
Fanconi anemia complementation group N

Criteria Provided
Conflicting Classifications

CA10584525

rs_879253891

8 SubmittersRCV000236918 RCV000575557 RCV000823428 RCV000781688 RCV002494677

NM_024675.4(PALB2):c.155T>C (p.Val52Ala)

SNV
Germline

Chr16:23637906

Conflicting classifications of pathogenicity

Condition: not provided
Breast neoplasm
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA7963833

rs_373970237

8 SubmittersRCV000235666 RCV000417330 RCV000462987 RCV000568339

NM_024675.4(PALB2):c.1A>G (p.Met1Val)

SNV
Germline

Chr16:23641157

Pathogenic/Likely pathogenic

Condition: not provided
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA10584527

rs_879254144

5 SubmittersRCV000237093 RCV000696235 RCV002418043

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.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.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.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_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_018191.4(RCBTB1):c.919G>A (p.Val307Met)

SNV
Germline

Chr13:49549584

Pathogenic/Likely pathogenic

Retinitis pigmentosa
RCBTB1-related retinopathy
Familial cancer of breast

No Assertion Criteria Provided

CA6982736

rs_368217569

3 SubmittersRCV000239609 RCV000258120 RCV005891081

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.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.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.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.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.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_000465.4(BARD1):c.2002-2A>C

SNV
Germline

Chr2:214729010

Conflicting classifications of pathogenicity

Condition: not provided
Familial cancer of breast
Hereditary cancer-predisposing syndrome
BARD1-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA10588331

rs_876658260

5 SubmittersRCV000254847 RCV000635764 RCV001014054 RCV005600883

NM_004415.4(DSP):c.2799G>C (p.Leu933Phe)

SNV
Germline

Chr6:7576964

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia 8
Cardiomyopathy
Condition: not provided
6 conditions
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA035566

rs_372922674

9 SubmittersRCV000255568 RCV000620068 RCV000699886 RCV001171091 RCV001705402 RCV002487168 RCV005895435

NM_203447.4(DOCK8):c.54-1G>T

SNV
Germline

Chr9:271626

Conflicting classifications of pathogenicity

Condition: not provided
Combined immunodeficiency due to DOCK8 deficiency
not specified
Intellectual disability
DOCK8-related disorder
Acute myeloid leukemia
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA4957100

rs_192864327

17 SubmittersRCV000256030 RCV000645149 RCV000825915 RCV001251745 RCV003930033 RCV005895446 RCV005895445

NM_000051.4(ATM):c.193C>T (p.Gln65Ter)

SNV
Germline

Chr11:108229185

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Breast carcinoma
Ataxia-telangiectasia syndrome
Familial cancer of breast
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA10588487

rs_775248597

8 SubmittersRCV000254811 RCV000850055 RCV001640592 RCV001859488 RCV003469204 RCV005044516

NM_000051.4(ATM):c.601C>T (p.Gln201Ter)

SNV
Germline

Chr11:108244057

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast
Endometrial carcinoma
Ataxia-telangiectasia syndrome
Familial cancer of breast
ATM-related cancer predisposition

Criteria Provided
Multiple Submitters
No Conflicts

CA10588488

rs_886039666

11 SubmittersRCV000255049 RCV000572239 RCV000628178 RCV003463721 RCV003128156 RCV005044517 RCV005355567

NM_000051.4(ATM):c.1692T>A (p.Cys564Ter)

SNV
Germline

Chr11:108251921

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA10588490

rs_886039644

5 SubmittersRCV000255429 RCV001383509 RCV003298329 RCV004021035

NM_000051.4(ATM):c.2583C>A (p.Tyr861Ter)

SNV
Germline

Chr11:108267287

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA10588494

rs_886039633

6 SubmittersRCV000255920 RCV000797050 RCV003469202 RCV005492807

NM_000051.4(ATM):c.3756T>A (p.Tyr1252Ter)

SNV
Germline

Chr11:108284236

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA10588496

rs_886039637

9 SubmittersRCV000255522 RCV000569538 RCV000665264 RCV002272199 RCV003469203 RCV005044515

NM_000051.4(ATM):c.5192C>G (p.Ser1731Ter)

SNV
Germline

Chr11:108301662

Pathogenic/Likely pathogenic

Condition: not provided
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA10588504

rs_886039627

4 SubmittersRCV000255692 RCV002521856 RCV004021032

NM_000051.4(ATM):c.7792C>T (p.Arg2598Ter)

SNV
Germline

Chr11:108332765

Pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast
Gastric cancer
Familial cancer of breast
ATM-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA6266193

rs_138941496

9 SubmittersRCV000256020 RCV000564573 RCV000705286 RCV000763225 RCV003165701 RCV003463716 RCV004547649

NM_024675.4(PALB2):c.3234T>A (p.Cys1078Ter)

SNV
Germline

Chr16:23607980

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA10588601

rs_886039634

6 SubmittersRCV000254975 RCV001525205 RCV001855013

NM_024675.4(PALB2):c.3114-1G>A

SNV
Germline

Chr16:23614092

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Pancreatic cancer, susceptibility to, 3

Criteria Provided
Multiple Submitters
No Conflicts

CA10588602

rs_886039619

7 SubmittersRCV000255848 RCV000569707 RCV000551424 RCV005361500

NM_024675.4(PALB2):c.2996+1G>T

SNV
Germline

Chr16:23622968

Likely pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA10588605

rs_886039626

4 SubmittersRCV000255151 RCV001017834 RCV001379452

NM_024675.4(PALB2):c.2835-2A>C

SNV
Germline

Chr16:23623132

Likely pathogenic

Condition: not provided
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA10588606

rs_886039613

2 SubmittersRCV000256178 RCV003454780

NM_024675.4(PALB2):c.2514+1G>C

SNV
Germline

Chr16:23629639

Likely pathogenic

Condition: not provided
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA10588607

rs_886039729

5 SubmittersRCV000255296 RCV001229856 RCV002429197

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_024675.4(PALB2):c.1496T>A (p.Leu499Ter)

SNV
Germline

Chr16:23635050

Pathogenic/Likely pathogenic

Condition: not provided
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA10588610

rs_886039620

2 SubmittersRCV000254924 RCV001390098

NM_024675.4(PALB2):c.1424C>G (p.Ser475Ter)

SNV
Germline

Chr16:23635122

Pathogenic/Likely pathogenic

Condition: not provided
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA10588611

rs_886039479

4 SubmittersRCV000255228 RCV001066196 RCV002392782

NM_024675.4(PALB2):c.421C>T (p.Gln141Ter)

SNV
Germline

Chr16:23636125

Pathogenic/Likely pathogenic

Condition: not provided
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA10588614

rs_886039686

4 SubmittersRCV000256010 RCV003454783 RCV006406661

NM_024675.4(PALB2):c.178C>T (p.Gln60Ter)

SNV
Germline

Chr16:23637883

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA10588615

rs_886039747

4 SubmittersRCV000255924 RCV001013160 RCV002518769

NM_004360.5(CDH1):c.1320+1G>C

SNV
Germline

Chr16:68813496

Likely pathogenic

Condition: not provided
Blepharocheilodontic syndrome 1
Hereditary diffuse gastric adenocarcinoma
CDH1-related diffuse gastric and lobular breast cancer syndrome
Familial cancer of breast

Reviewed By Expert Panel

CA10588622

rs_886039685

5 SubmittersRCV000255500 RCV000505772 RCV003335297 RCV003328317 RCV005895452

NM_007194.4(CHEK2):c.1528C>T (p.Gln510Ter)

SNV
Germline

Chr22:28689149

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA10588716

rs_886039512

5 SubmittersRCV000254950 RCV001012022 RCV001046816

NM_007194.4(CHEK2):c.1461+1G>A

SNV
Germline

Chr22:28694031

Pathogenic/Likely pathogenic

Condition: not provided
Familial cancer of breast
Hereditary cancer-predisposing syndrome
CHEK2-related cancer predisposition
Bone osteosarcoma
Familial prostate cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA10588717

rs_886039629

6 SubmittersRCV000255259 RCV000468702 RCV000569979 RCV005396858

NM_007194.4(CHEK2):c.1170C>A (p.Tyr390Ter)

SNV
Germline

Chr22:28695799

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Hereditary nonpolyposis colon cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA10588718

rs_886039631

6 SubmittersRCV000255399 RCV002328750 RCV003335295 RCV005361502

NM_007194.4(CHEK2):c.909-1G>T

SNV
Germline

Chr22:28699938

Likely pathogenic

Condition: not provided
Familial cancer of breast
Thyroid cancer, nonmedullary, 1

Criteria Provided
Multiple Submitters
No Conflicts

CA10588719

rs_886039721

4 SubmittersRCV000256104 RCV000558415 RCV005895454

NM_007194.4(CHEK2):c.902T>A (p.Leu301Ter)

SNV
Germline

Chr22:28703511

Pathogenic/Likely pathogenic

Condition: not provided
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA10588720

rs_886039739

7 SubmittersRCV000255142 RCV000545100 RCV000573767

NM_007194.4(CHEK2):c.683+1G>C

SNV
Germline

Chr22:28719394

Likely pathogenic

Condition: not provided
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA10588722

rs_786203650

5 SubmittersRCV000255210 RCV000529813 RCV003584585

NM_007194.4(CHEK2):c.470T>G (p.Ile157Ser)

SNV
Germline

Chr22:28725099

Conflicting classifications of pathogenicity

Condition: not provided
Malignant tumor of breast
Familial cancer of breast
Hereditary cancer-predisposing syndrome
CHEK2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA10588724

rs_17879961

5 SubmittersRCV000255649 RCV001358222 RCV002518758 RCV004609336 RCV005624165

NM_000059.4(BRCA2):c.110C>G (p.Ser37Ter)

SNV
Germline

Chr13:32319119

Pathogenic

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

Reviewed By Expert Panel

CA10589010

rs_886040346

4 SubmittersRCV000257520 RCV004567814 RCV005520260

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.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.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.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.4985C>G (p.Ser1662Ter)

SNV
Germline

Chr13:32339340

Pathogenic

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

Reviewed By Expert Panel

CA10589281

rs_886040559

4 SubmittersRCV000256529 RCV003475872 RCV004021048

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.9739C>T (p.Gln3247Ter)

SNV
Germline

Chr13:32398252

Pathogenic

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

Reviewed By Expert Panel

CA10589572

rs_886040849

5 SubmittersRCV000257474 RCV002379105 RCV002519019 RCV003475880

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.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.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_000059.4(BRCA2):c.7806-2A>T

SNV
Germline

Chr13:32362521

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA10602542

rs_81002836

2 SubmittersRCV000258419 RCV000585732

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.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.8954-15T>G

SNV
Germline

Chr13:32379735

Pathogenic/Likely pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
Familial cancer of breast
8 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA10602554

rs_886040948

3 SubmittersRCV000258361 RCV003463732 RCV005396863

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.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_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.5297T>A (p.Ile1766Asn)

SNV
Germline

Chr17:43051098

Pathogenic/Likely pathogenic

Breast-ovarian cancer, familial, susceptibility to, 1
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA10590955

rs_80357463

3 SubmittersRCV000258372 RCV006255634

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_000465.4(BARD1):c.928T>G (p.Ser310Ala)

SNV
Germline

Chr2:214780946

Conflicting classifications of pathogenicity

Condition: not provided
Familial cancer of breast
Hereditary cancer-predisposing syndrome
not specified

Criteria Provided
Conflicting Classifications

CA10602837

rs_886041139

7 SubmittersRCV000284245 RCV000524789 RCV000569301 RCV003987485

NM_078470.6(COX15):c.396-3C>G

SNV
Germline

Chr10:99727157

Conflicting classifications of pathogenicity

Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2
Condition: not provided
Leigh syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA5642274

rs_200910834

8 SubmittersRCV000006553 RCV000266470 RCV002469094 RCV005895477

NM_000359.3(TGM1):c.877-2A>G

SNV
Germline

Chr14:24259813

Pathogenic

Condition: not provided
Autosomal recessive congenital ichthyosis 1
Autosomal recessive congenital ichthyosis
TGM1-related disorder
Lamellar ichthyosis
Cholangiocarcinoma
Lung cancer
Familial cancer of breast
Thyroid cancer, nonmedullary, 1

Criteria Provided
Multiple Submitters
No Conflicts

CA7131245

rs_142634031

22 SubmittersRCV000290112 RCV000762929 RCV001729500 RCV003930035 RCV004767207 RCV005895473 RCV005895474 RCV005895471 RCV005895472

NM_032043.3(BRIP1):c.2874A>T (p.Leu958=)

SNV
Germline

Chr17:61685867

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group J
Familial cancer of breast
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA10603311

rs_886041147

5 SubmittersRCV000275673 RCV000563681 RCV001080278 RCV004791384

NM_032043.3(BRIP1):c.878A>G (p.Asn293Ser)

SNV
Germline

Chr17:61808507

Conflicting classifications of pathogenicity

Condition: not provided
Fanconi anemia complementation group J
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Familial ovarian cancer

Criteria Provided
Conflicting Classifications

CA8690839

rs_746599076

6 SubmittersRCV000319358 RCV000636175 RCV000573698 RCV005600885

NM_032043.3(BRIP1):c.1474-7C>A

SNV
Germline

Chr17:61784431

Conflicting classifications of pathogenicity

Condition: not provided
Familial cancer of breast
Fanconi anemia complementation group J
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA10603385

rs_886041146

4 SubmittersRCV000400309 RCV000636092 RCV001526178 RCV001706409

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_007194.4(CHEK2):c.1462G>A (p.Asp488Asn)

SNV
Germline

Chr22:28689215

Conflicting classifications of pathogenicity

Condition: not provided
Familial cancer of breast
Hereditary cancer-predisposing syndrome
not specified

Criteria Provided
Conflicting Classifications

CA10603693

rs_886041173

5 SubmittersRCV000367328 RCV000473696 RCV000573852 RCV003235169

NM_001130987.2(DYSF):c.460+2T>G

SNV
Germline

Chr2:71511923

Conflicting classifications of pathogenicity

not specified
Autosomal recessive limb-girdle muscular dystrophy type 2B
Distal myopathy with anterior tibial onset
Autosomal recessive limb-girdle muscular dystrophy type 2B
Miyoshi muscular dystrophy 1
Familial cancer of breast
Acute myeloid leukemia
Familial pancreatic carcinoma
Nonpapillary renal cell carcinoma

Criteria Provided
Conflicting Classifications

CA1705352

rs_750356247

4 SubmittersRCV000264961 RCV000986769 RCV005025414 RCV005895495 RCV005895496 RCV005895498 RCV005895497

NM_002892.4(ARID4A):c.3211+1G>A

SNV
Germline

Chr14:58365301

Conflicting classifications of pathogenicity

Condition: not provided
Colorectal cancer
Gastric cancer
Acute myeloid leukemia
Malignant tumor of esophagus
Lymphoma
Ovarian serous cystadenocarcinoma
Uterine carcinosarcoma
Thymoma
Thyroid cancer, nonmedullary, 1
Colon adenocarcinoma
Sarcoma
Melanoma
Hepatocellular carcinoma
Uterine corpus endometrial carcinoma
Clear cell carcinoma of kidney
Uveal melanoma
Nonpapillary renal cell carcinoma
Lung cancer
Cervical cancer
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA7204782

rs_62621193

3 SubmittersRCV000377555 RCV005895508 RCV005895510 RCV005895501 RCV005895503 RCV005895511 RCV005895512 RCV005895513 RCV005895514 RCV005895515 RCV005895500 RCV005895509 RCV005895516 RCV005895502 RCV005895518 RCV005895506 RCV005895507 RCV005895504 RCV005895517 RCV005895505 RCV005895499

NM_022356.4(P3H1):c.1322A>G (p.Asp441Gly)

SNV
Germline

Chr1:42754892

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Osteogenesis imperfecta type 8
Osteogenesis imperfecta
P3H1-related disorder
Clear cell carcinoma of kidney
Colorectal cancer
Hepatocellular carcinoma
Lung cancer
Colon adenocarcinoma
Sarcoma
Malignant tumor of urinary bladder
Malignant tumor of esophagus
Cervical cancer
Familial cancer of breast
Gastric cancer
Ovarian serous cystadenocarcinoma
Melanoma
Acute myeloid leukemia

Criteria Provided
Conflicting Classifications

CA801884

rs_113593896

12 SubmittersRCV000402019 RCV000487953 RCV001079324 RCV002278278 RCV003982984 RCV005895610 RCV005895611 RCV005895607 RCV005895616 RCV005895604 RCV005895612 RCV005895606 RCV005895608 RCV005895609 RCV005895603 RCV005895613 RCV005895614 RCV005895615 RCV005895605

NM_000070.3(CAPN3):c.1746-7C>G

SNV
Germline

Chr15:42403734

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive limb-girdle muscular dystrophy type 2A
Lymphoma
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA7511492

rs_199978708

7 SubmittersRCV000382613 RCV001084708 RCV005895623 RCV005895622

NM_182961.4(SYNE1):c.24956G>A (p.Arg8319Gln)

SNV
Germline

Chr6:152148065

Conflicting classifications of pathogenicity

Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type
Condition: not provided
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Autosomal recessive ataxia, Beauce type
not specified
Clear cell carcinoma of kidney
Familial cancer of breast
Acute myeloid leukemia

Criteria Provided
Conflicting Classifications

CA4053040

rs_148008634

6 SubmittersRCV000319118 RCV000373820 RCV000725395 RCV001079883 RCV004999216 RCV005895639 RCV005895637 RCV005895638

NM_000046.5(ARSB):c.1373A>G (p.Asn458Ser)

SNV
Germline

Chr5:78780626

Conflicting classifications of pathogenicity

Mucopolysaccharidosis type 6
not specified
Ovarian serous cystadenocarcinoma
Familial cancer of breast
Colon adenocarcinoma
Thyroid cancer, nonmedullary, 1

Criteria Provided
Conflicting Classifications

CA3317993

rs_144222167

5 SubmittersRCV000302376 RCV000401780 RCV005895731 RCV005895729 RCV005895730 RCV005895732

NM_024757.5(EHMT1):c.32C>T (p.Ala11Val)

SNV
Germline

Chr9:137710977

Conflicting classifications of pathogenicity

Condition: not provided
Kleefstra syndrome 1
EHMT1-related disorder
Inborn genetic diseases
Familial cancer of breast
not specified

Criteria Provided
Conflicting Classifications

CA5374115

rs_200636818

8 SubmittersRCV000275935 RCV000638402 RCV003909997 RCV002519281 RCV005895766 RCV005434766

NM_025132.4(WDR19):c.2361C>T (p.Phe787=)

SNV
Germline

Chr4:39234873

Conflicting classifications of pathogenicity

not specified
Cranioectodermal dysplasia 4
Asphyxiating thoracic dystrophy 5
Senior-Loken syndrome 8
Asphyxiating thoracic dystrophy 5
Condition: not provided
Connective tissue disorder
Clear cell carcinoma of kidney
Colorectal cancer
Ovarian serous cystadenocarcinoma
Nonpapillary renal cell carcinoma
Lung cancer
Cervical cancer
Familial cancer of breast
Glioma susceptibility 1
Hepatocellular carcinoma

Criteria Provided
Conflicting Classifications

CA2892056

rs_200133722

9 SubmittersRCV000286180 RCV000365966 RCV000399917 RCV001085843 RCV001701934 RCV002278307 RCV005895782 RCV005895783 RCV005895784 RCV005895780 RCV005895785 RCV005895781 RCV005895777 RCV005895778 RCV005895779

NM_000295.5(SERPINA1):c.922G>T (p.Ala308Ser)

SNV
Germline

Chr14:94379607

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Alpha-1-antitrypsin deficiency
SERPINA1-related disorder
Hepatocellular carcinoma
Cervical cancer
Lung cancer
Familial cancer of breast
Uterine corpus endometrial carcinoma
Colon adenocarcinoma
Thyroid cancer, nonmedullary, 1
Acute myeloid leukemia

Criteria Provided
Conflicting Classifications

CA7327349

rs_141620200

9 SubmittersRCV000366637 RCV000766819 RCV001081168 RCV003401263 RCV005895844 RCV005895845 RCV005895847 RCV005895841 RCV005895848 RCV005895842 RCV005895846 RCV005895843

NM_006790.3(MYOT):c.1286C>G (p.Ala429Gly)

SNV
Germline

Chr5:137886959

Conflicting classifications of pathogenicity

Condition: not provided
Myofibrillar myopathy 3
not specified
Acute myeloid leukemia
Familial cancer of breast
MYOT-related disorder

Criteria Provided
Conflicting Classifications

CA3423144

rs_144731446

9 SubmittersRCV000295763 RCV000639970 RCV003323496 RCV005895861 RCV005895860 RCV003417907

NM_004183.4(BEST1):c.495G>A (p.Pro165=)

SNV
Germline

Chr11:61956857

Conflicting classifications of pathogenicity

Retinitis pigmentosa
Vitelliform macular dystrophy 2
not specified
Autosomal dominant vitreoretinochoroidopathy
Condition: not provided
Retinal dystrophy
Familial cancer of breast
Uterine carcinosarcoma
Thyroid cancer, nonmedullary, 1
Malignant tumor of esophagus
Lung cancer

Criteria Provided
Conflicting Classifications

CA6040767

rs_182941675

5 SubmittersRCV000314904 RCV000349792 RCV000396611 RCV000398400 RCV000919864 RCV003888693 RCV005895867 RCV005895869 RCV005895870 RCV005895868 RCV005895871

NM_001111.5(ADAR):c.2668+6T>C

SNV
Germline

Chr1:154589751

Conflicting classifications of pathogenicity

Symmetrical dyschromatosis of extremities
Symmetrical dyschromatosis of extremities
Aicardi-Goutieres syndrome 6
Condition: not provided
Familial pancreatic carcinoma
Gastric cancer
Acute myeloid leukemia
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA1131201

rs_190881240

8 SubmittersRCV000286952 RCV000650242 RCV000859489 RCV005891492 RCV005891493 RCV005891491 RCV005891490

NM_001852.4(COL9A2):c.1162-3C>T

SNV
Germline

Chr1:40304532

Conflicting classifications of pathogenicity

Epiphyseal dysplasia, multiple, 2
Condition: not provided
Uterine corpus endometrial carcinoma
Ovarian serous cystadenocarcinoma
Acute myeloid leukemia
Lung cancer
Familial cancer of breast
Colorectal cancer

Criteria Provided
Conflicting Classifications

CA791552

rs_368209124

5 SubmittersRCV000314435 RCV000415928 RCV005891701 RCV005891699 RCV005891697 RCV005891700 RCV005891696 RCV005891698

NM_000969.5(RPL5):c.325-11T>G

SNV
Germline

Chr1:92836179

Conflicting classifications of pathogenicity

Diamond-Blackfan anemia 6
Condition: not provided
not specified
Diamond-Blackfan anemia
Acute myeloid leukemia
Familial cancer of breast
Uterine corpus endometrial carcinoma
Sarcoma
Thymoma
Lung cancer

Criteria Provided
Conflicting Classifications

CA952446

rs_145058455

8 SubmittersRCV000361575 RCV001582922 RCV001820862 RCV002059503 RCV005891743 RCV005891742 RCV005891747 RCV005891744 RCV005891745 RCV005891746

NM_001136193.2(FASTKD2):c.2018A>G (p.Asn673Ser)

SNV
Germline

Chr2:206791687

Conflicting classifications of pathogenicity

Mitochondrial complex IV deficiency, nuclear type 1
Condition: not provided
Inborn genetic diseases
FASTKD2-related disorder
Uterine corpus endometrial carcinoma
Colon adenocarcinoma
Hepatocellular carcinoma
Cervical cancer
Sarcoma
Uterine carcinosarcoma
Thymoma
Thyroid cancer, nonmedullary, 1
Clear cell carcinoma of kidney
Lung cancer
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA2075354

rs_142211558

7 SubmittersRCV000289795 RCV000676953 RCV002521366 RCV003922435 RCV005896073 RCV005896064 RCV005896065 RCV005896066 RCV005896068 RCV005896069 RCV005896070 RCV005896071 RCV005896067 RCV005896072 RCV005896063

NM_000465.4(BARD1):c.245G>T (p.Gly82Val)

SNV
Germline

Chr2:214792416

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA10614212

rs_886055600

4 SubmittersRCV000580143 RCV000635842

NM_000465.4(BARD1):c.216-14T>C

SNV
Germline

Chr2:214792459

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA2090471

rs_775103922

4 SubmittersRCV000367198 RCV000776445

NM_000465.4(BARD1):c.215+13G>A

SNV
Germline

Chr2:214797048

Conflicting classifications of pathogenicity

Familial cancer of breast
not specified
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10614214

rs_886055601

5 SubmittersRCV000277248 RCV000425858 RCV000773109

NM_000096.4(CP):c.1217C>A (p.Ala406Glu)

SNV
Germline

Chr3:149202233

Conflicting classifications of pathogenicity

Deficiency of ferroxidase
Condition: not provided
Inborn genetic diseases
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA2661092

rs_147034302

8 SubmittersRCV000260851 RCV001770276 RCV002520097 RCV005897623

NM_001378452.1(ITPR1):c.2732C>T (p.Ala911Val)

SNV
Germline

Chr3:4675201

Conflicting classifications of pathogenicity

Autosomal dominant cerebellar ataxia
Spinocerebellar ataxia type 29
Condition: not provided
Inborn genetic diseases
Spinocerebellar ataxia type 15/16
Spinocerebellar ataxia type 29
Gillespie syndrome
Clear cell carcinoma of kidney
Malignant tumor of urinary bladder
Familial cancer of breast
Gastric cancer
Thymoma
Melanoma
Acute myeloid leukemia
Uterine corpus endometrial carcinoma
Lung cancer

Criteria Provided
Conflicting Classifications

CA2231486

rs_201519806

9 SubmittersRCV000377614 RCV000677361 RCV001598658 RCV002523265 RCV005398472 RCV005897693 RCV005897692 RCV005897690 RCV005897694 RCV005897695 RCV005897696 RCV005897691 RCV005897698 RCV005897697

NM_000532.5(PCCB):c.882C>T (p.Pro294=)

SNV
Germline

Chr3:136298070

Conflicting classifications of pathogenicity

Propionic acidemia
not specified
Condition: not provided
Thyroid cancer, nonmedullary, 1
Familial cancer of breast
Uterine corpus endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA2631904

rs_142730126

8 SubmittersRCV000281740 RCV000439688 RCV001705512 RCV005897604 RCV005897603 RCV005897605

NM_006017.3(PROM1):c.1683-3C>T

SNV
Germline

Chr4:15994074

Conflicting classifications of pathogenicity

Cone-rod dystrophy 12
Stargardt disease 4
Retinitis pigmentosa
Retinal macular dystrophy type 2
Condition: not provided
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA2866675

rs_143470288

3 SubmittersRCV000302494 RCV000308385 RCV000348076 RCV000398666 RCV000886518 RCV005897779

NM_001369.3(DNAH5):c.2431+5G>A

SNV
Germline

Chr5:13894645

Conflicting classifications of pathogenicity

Primary ciliary dyskinesia
Primary ciliary dyskinesia 3
Condition: not provided
DNAH5-related disorder
Familial cancer of breast
not specified

Criteria Provided
Conflicting Classifications

CA3204595

rs_369244905

8 SubmittersRCV000311206 RCV001095051 RCV000489824 RCV004742396 RCV005898926 RCV005418093

NM_014845.6(FIG4):c.2547-5T>G

SNV
Germline

Chr6:109825083

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 11
Charcot-Marie-Tooth disease type 4
Condition: not provided
Charcot-Marie-Tooth disease type 4J
Charcot-Marie-Tooth disease
Inborn genetic diseases
Chronic lymphocytic leukemia/small lymphocytic lymphoma
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA3956446

rs_200267243

10 SubmittersRCV000324185 RCV000475395 RCV000858660 RCV001095001 RCV001173264 RCV002429318 RCV005899028 RCV005899027

NM_000165.5(GJA1):c.-16-12T>A

SNV
Germline

Chr6:121446820

Conflicting classifications of pathogenicity

Hypoplastic left heart syndrome 1
Oculodentodigital dysplasia
Syndactyly type 3
Condition: not provided
Sarcoma
Lymphoma
Familial cancer of breast
Thymoma
Nonpapillary renal cell carcinoma
Lung cancer
Cervical cancer
Uterine corpus endometrial carcinoma
Gastric cancer
Ovarian cancer

Criteria Provided
Conflicting Classifications

CA3981646

rs_56199702

5 SubmittersRCV000284492 RCV000320948 RCV000383666 RCV000436781 RCV005899034 RCV005899036 RCV005899030 RCV005899037 RCV005899031 RCV005899038 RCV005899032 RCV005899039 RCV005899035 RCV005899033

NM_000037.4(ANK1):c.*774A>G

SNV
Germline

Chr8:41655016

Conflicting classifications of pathogenicity

Hereditary spherocytosis type 1
Spherocytosis
Ovarian serous cystadenocarcinoma
Familial cancer of breast
Cervical cancer

Criteria Provided
Conflicting Classifications

CA10625414

rs_142696529

2 SubmittersRCV000342881 RCV001162405 RCV005899376 RCV005899374 RCV005899375

NM_014855.3(AP5Z1):c.1557A>G (p.Gln519=)

SNV
Germline

Chr7:4788256

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia 48
Clear cell carcinoma of kidney
Cervical cancer
Familial cancer of breast
not specified
Hereditary spastic paraplegia
Sarcoma

Criteria Provided
Conflicting Classifications

CA4137867

rs_201687417

8 SubmittersRCV000710597 RCV001086379 RCV005899218 RCV005899217 RCV005899216 RCV006443183 RCV001848707 RCV005899219

NM_030962.4(SBF2):c.777G>A (p.Pro259=)

SNV
Germline

Chr11:10000998

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease
not specified
Condition: not provided
Inborn genetic diseases
Charcot-Marie-Tooth disease type 4B2
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA5882009

rs_142261202

8 SubmittersRCV000304687 RCV001173802 RCV001820880 RCV001565111 RCV002411193 RCV006450127 RCV005891929

NM_000051.4(ATM):c.6095+5A>G

SNV
Germline

Chr11:108315916

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA10629783

rs_757328753

5 SubmittersRCV000262597 RCV001024887 RCV004591117

NM_000428.3(LTBP2):c.3527-3C>A

SNV
Germline

Chr14:74508732

Conflicting classifications of pathogenicity

Weill-Marchesani syndrome
Glaucoma 3, primary congenital, D
Condition: not provided
LTBP2-related disorder
Ovarian serous cystadenocarcinoma
Uterine carcinosarcoma
Thymoma
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA7269125

rs_138194436

4 SubmittersRCV000305307 RCV000403118 RCV000909576 RCV004734973 RCV005893291 RCV005893292 RCV005893293 RCV005893290

NM_033100.4(CDHR1):c.783G>A (p.Pro261=)

SNV
Germline

Chr10:84203123

Conflicting classifications of pathogenicity

Cone-rod dystrophy 15
Retinal dystrophy
Condition: not provided
not specified
Retinitis pigmentosa
Macular dystrophy, retinal, 5
Retinitis pigmentosa 65
Optic atrophy
Colon adenocarcinoma
Colorectal cancer
Gastric cancer
Papillary renal cell carcinoma type 1
Melanoma
CDHR1-related disorder
Malignant tumor of urinary bladder
Familial cancer of breast
Hepatocellular carcinoma

Criteria Provided
Conflicting Classifications

CA5579673

rs_147346345

21 SubmittersRCV000625429 RCV000787811 RCV000487554 RCV000825304 RCV001723886 RCV003221896 RCV003221895 RCV004816533 RCV005891892 RCV005891896 RCV005891897 RCV005891893 RCV005891898 RCV004748711 RCV005891894 RCV005891891 RCV005891895

NM_000051.4(ATM):c.660G>A (p.Ala220=)

SNV
Germline

Chr11:108244116

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6264642

rs_763669136

8 SubmittersRCV000388037 RCV000776382 RCV001706450 RCV004591115

NM_022370.4(ROBO3):c.2993G>T (p.Gly998Val)

SNV
Germline

Chr11:124877943

Conflicting classifications of pathogenicity

Gaze palsy, familial horizontal, with progressive scoliosis 1
Condition: not provided
ROBO3-related disorder
Clear cell carcinoma of kidney
Malignant tumor of urinary bladder
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA6344020

rs_75098003

4 SubmittersRCV000360788 RCV000888335 RCV003920243 RCV005892941 RCV005892940 RCV005892939

NM_024675.4(PALB2):c.113C>G (p.Ala38Gly)

SNV
Germline

Chr16:23637948

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group N
Familial cancer of breast
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7963838

rs_371875379

6 SubmittersRCV000271163 RCV000328650 RCV000547522 RCV005407049 RCV006450134

NM_007194.4(CHEK2):c.1461+12A>G

SNV
Germline

Chr22:28694020

Conflicting classifications of pathogenicity

not specified
Familial cancer of breast
CHEK2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA10645226

rs_886057328

3 SubmittersRCV000611685 RCV002057798 RCV005414494

NM_001355436.2(SPTB):c.5052C>T (p.Arg1684=)

SNV
Germline

Chr14:64773346

Conflicting classifications of pathogenicity

Condition: not provided
Familial cancer of breast
Uterine corpus endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA7230083

rs_229593

4 SubmittersRCV001508364 RCV005893277 RCV005893278

NM_000088.4(COL1A1):c.627C>T (p.Gly209=)

SNV
Germline

Chr17:50197964

Conflicting classifications of pathogenicity

Ehlers-Danlos syndrome, arthrochalasia type
Infantile cortical hyperostosis
Osteogenesis imperfecta
Condition: not provided
Osteogenesis imperfecta type I
Ehlers-Danlos syndrome
Cardiovascular phenotype
Colon adenocarcinoma
Familial cancer of breast
Clear cell carcinoma of kidney
Thyroid cancer, nonmedullary, 1

Criteria Provided
Conflicting Classifications

CA8645632

rs_201136122

8 SubmittersRCV000298870 RCV000355982 RCV000392198 RCV000726816 RCV001079759 RCV002278497 RCV002365387 RCV005894647 RCV005894646 RCV005894648 RCV005894649

NM_001113378.2(FANCI):c.1491A>G (p.Gln497=)

SNV
Germline

Chr15:89281279

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group I
not specified
Condition: not provided
FANCI-related disorder
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA7723031

rs_145349375

8 SubmittersRCV000325551 RCV001094275 RCV001820936 RCV003409493 RCV003940239 RCV005893413

NM_000159.4(GCDH):c.471C>T (p.Ser157=)

SNV
Germline

Chr19:12893619

Conflicting classifications of pathogenicity

Condition: not provided
Glutaric aciduria, type 1
Inborn genetic diseases
Hepatocellular carcinoma
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA9234394

rs_146682905

8 SubmittersRCV000735103 RCV001087940 RCV003168488 RCV005894786 RCV005894785

NM_015272.5(RPGRIP1L):c.2682A>G (p.Ser894=)

SNV
Germline

Chr16:53645626

Conflicting classifications of pathogenicity

Nephronophthisis 8
Joubert syndrome 7
Meckel syndrome, type 5
Condition: not provided
Joubert syndrome
Meckel-Gruber syndrome
Joubert syndrome
Joubert syndrome 7
Meckel syndrome, type 5
COACH syndrome 3
Lung cancer
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA8057500

rs_141608712

9 SubmittersRCV000283664 RCV000341038 RCV000380415 RCV000996271 RCV001243917 RCV001271326 RCV005010283 RCV005894494 RCV005894493

NM_032043.3(BRIP1):c.*128A>G

SNV
Germline

Chr17:61683168

Conflicting classifications of pathogenicity

Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA10650614

rs_150444311

2 SubmittersRCV000280638 RCV002272211

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_000271.5(NPC1):c.3012G>A (p.Ser1004=)

SNV
Germline

Chr18:23538571

Conflicting classifications of pathogenicity

Condition: not provided
Niemann-Pick disease, type C1
Malignant tumor of esophagus
Papillary renal cell carcinoma type 1
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA8912896

rs_182413311

5 SubmittersRCV000729382 RCV001087791 RCV005894739 RCV005894738 RCV005894737

NM_001943.5(DSG2):c.2744G>C (p.Arg915Thr)

SNV
Germline

Chr18:31546130

Conflicting classifications of pathogenicity

Arrhythmogenic right ventricular dysplasia 10
Cardiomyopathy
Condition: not provided
Cardiovascular phenotype
Arrhythmogenic right ventricular dysplasia 10
Dilated cardiomyopathy 1BB
Arrhythmogenic right ventricular cardiomyopathy
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA047079

rs_375358300

9 SubmittersRCV000283532 RCV001184783 RCV002288973 RCV002436179 RCV002495031 RCV003995859 RCV005894740

NM_012434.5(SLC17A5):c.1259+1G>A

SNV
Germline

Chr6:73610399

Pathogenic/Likely pathogenic

Sialic acid storage disease, severe infantile type
Salla disease
Condition: not provided
Colon adenocarcinoma
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA16041077

rs_146095590

7 SubmittersRCV000005969 RCV000409414 RCV003137984 RCV005900631 RCV005900630

NM_000051.4(ATM):c.877A>T (p.Lys293Ter)

SNV
Germline

Chr11:108245002

Pathogenic

Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA16041383

rs_1057516442

3 SubmittersRCV000411113 RCV004022135

NM_000051.4(ATM):c.1803-2A>G

SNV
Germline

Chr11:108252815

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA16041386

rs_1057517358

10 SubmittersRCV000411840 RCV001573871 RCV002411275 RCV003475972

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.3541A>T (p.Lys1181Ter)

SNV
Germline

Chr11:108281133

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA16041401

rs_1057516981

8 SubmittersRCV000412416 RCV000582272 RCV003470342 RCV006452621

NM_000051.4(ATM):c.3577-1G>C

SNV
Germline

Chr11:108282709

Likely pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA16041402

rs_1057517226

6 SubmittersRCV000410163 RCV000708602 RCV004022148

NM_000051.4(ATM):c.3747-2A>G

SNV
Germline

Chr11:108284225

Pathogenic/Likely pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA16041404

rs_1057517213

6 SubmittersRCV000409065 RCV001805032 RCV004022147

NM_000051.4(ATM):c.3993+1G>T

SNV
Germline

Chr11:108284474

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA16041407

rs_200196781

6 SubmittersRCV000409640 RCV002374612 RCV003470339 RCV004591138

NM_000051.4(ATM):c.3994-1G>T

SNV
Germline

Chr11:108287599

Pathogenic/Likely pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA16041408

rs_1057516238

7 SubmittersRCV000411542 RCV000562309 RCV003470322

NM_000051.4(ATM):c.4732C>T (p.Gln1578Ter)

SNV
Germline

Chr11:108293433

Pathogenic

Ataxia-telangiectasia syndrome
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA6265531

rs_746499337

5 SubmittersRCV000409906 RCV003470336 RCV003168592

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_000051.4(ATM):c.5005+1G>T

SNV
Germline

Chr11:108297383

Likely pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast
ATM-related cancer predisposition
Condition: not provided

Reviewed By Expert Panel

CA16041413

rs_1057517427

9 SubmittersRCV000412271 RCV001023407 RCV003463809 RCV005001048 RCV004719808

NM_000051.4(ATM):c.5319+1G>T

SNV
Germline

Chr11:108301790

Pathogenic/Likely pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA16041415

rs_876660175

4 SubmittersRCV000411373 RCV003372697 RCV004022133

NM_000051.4(ATM):c.5554C>T (p.Gln1852Ter)

SNV
Germline

Chr11:108304732

Pathogenic/Likely pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast
ATM-related cancer predisposition
Inherited breast cancer and ovarian cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA6265729

rs_754562056

10 SubmittersRCV000409717 RCV002348124 RCV002272217 RCV005355688 RCV005252871

NM_000051.4(ATM):c.5763-2A>T

SNV
Germline

Chr11:108310158

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA16041419

rs_876659489

7 SubmittersRCV000410861 RCV000523412 RCV001525392 RCV003470346

NM_000051.4(ATM):c.6040G>T (p.Glu2014Ter)

SNV
Germline

Chr11:108315856

Pathogenic/Likely pathogenic

Ataxia-telangiectasia syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Breast and/or ovarian cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA16041420

rs_375783941

10 SubmittersRCV000412041 RCV000657612 RCV000775840 RCV002272219 RCV003150193

NM_000051.4(ATM):c.6095+2T>C

SNV
Germline

Chr11:108315913

Likely pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
ATM-related disorder
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA16041421

rs_1057516525

6 SubmittersRCV000410313 RCV002356505 RCV004549833 RCV004022136

NM_000051.4(ATM):c.6347+1G>A

SNV
Germline

Chr11:108317522

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA16041422

rs_1057517120

8 SubmittersRCV000409839 RCV001180642 RCV004022145 RCV005625577

NM_000051.4(ATM):c.6348-1G>A

SNV
Germline/somatic

Chr11:108319953

Likely pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Neoplasm

Criteria Provided
Multiple Submitters
No Conflicts

CA16041423

rs_1057517302

7 SubmittersRCV000408965 RCV002365447 RCV003470352 RCV005230278

NM_000051.4(ATM):c.7166C>G (p.Ser2389Ter)

SNV
Germline

Chr11:108329097

Pathogenic

Ataxia-telangiectasia syndrome
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA16041426

rs_1018140779

4 SubmittersRCV000411247 RCV004567881 RCV005502790

NM_000051.4(ATM):c.8098A>T (p.Lys2700Ter)

SNV
Germline

Chr11:108335056

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA16041429

rs_758588019

8 SubmittersRCV000411242 RCV001182536 RCV001268064 RCV003470345 RCV005055105

NM_000051.4(ATM):c.8418+1G>A

SNV
Germline

Chr11:108343372

Pathogenic/Likely pathogenic

Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA6266357

rs_766533795

5 SubmittersRCV000409887 RCV003993944

NM_000051.4(ATM):c.8851-1G>T

SNV
Germline

Chr11:108365081

Pathogenic/Likely pathogenic

Ataxia-telangiectasia syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA16041431

rs_1057516537

6 SubmittersRCV000410513 RCV002488837 RCV003463793 RCV004948275

NM_024675.4(PALB2):c.3202-1G>A

SNV
Germline

Chr16:23608013

Pathogenic/Likely pathogenic

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group N
Pancreatic cancer, susceptibility to, 3
Familial cancer of breast
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA16042147

rs_515726111

10 SubmittersRCV000409659 RCV001019201 RCV002481267 RCV003493565

NM_024675.4(PALB2):c.2748+1G>C

SNV
Germline

Chr16:23626235

Pathogenic/Likely pathogenic

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 5
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA16042148

rs_753153576

5 SubmittersRCV000409294 RCV001176291 RCV003315425 RCV003477909

NM_024675.4(PALB2):c.2576C>A (p.Ser859Ter)

SNV
Germline

Chr16:23629214

Pathogenic

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA16042149

rs_1057517539

4 SubmittersRCV000410429 RCV000454290

NM_024675.4(PALB2):c.3G>A (p.Met1Ile)

SNV
Germline

Chr16:23641155

Pathogenic/Likely pathogenic

Familial cancer of breast
Condition: not provided
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 5

Criteria Provided
Multiple Submitters
No Conflicts

CA16042152

rs_1057517585

8 SubmittersRCV000410696 RCV000505935 RCV000567207 RCV004698787

NM_004360.5(CDH1):c.1009-14C>T

SNV
Germline

Chr16:68812121

Conflicting classifications of pathogenicity

Hereditary diffuse gastric adenocarcinoma
not specified
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Ovarian cancer

Criteria Provided
Conflicting Classifications

CA16042156

rs_368293695

7 SubmittersRCV000410466 RCV000439045 RCV000579900 RCV005355694

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_032043.3(BRIP1):c.2111T>A (p.Leu704Ter)

SNV
Germline

Chr17:61744578

Pathogenic

Fanconi anemia complementation group J
Familial cancer of breast
Fanconi anemia complementation group J
Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Ovarian cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA16042174

rs_1057517643

7 SubmittersRCV000411722 RCV000636132 RCV001267955 RCV002418233 RCV003316518 RCV005430348

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_203447.4(DOCK8):c.4019A>G (p.Tyr1340Cys)

SNV
Germline

Chr9:420579

Conflicting classifications of pathogenicity

not specified
Combined immunodeficiency due to DOCK8 deficiency
Condition: not provided
DOCK8-related disorder
Intellectual disability
Ovarian serous cystadenocarcinoma
Thymoma
Thyroid cancer, nonmedullary, 1
Melanoma
Familial cancer of breast
Lung cancer

Criteria Provided
Conflicting Classifications

CA4958890

rs_116920018

12 SubmittersRCV000414337 RCV000645180 RCV001507743 RCV003922668 RCV005625579 RCV005900654 RCV005900655 RCV005900656 RCV005900657 RCV005900653 RCV005900658

NM_000051.4(ATM):c.6447T>C (p.Tyr2149=)

SNV
Germline

Chr11:108320053

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA16043811

rs_1057519167

4 SubmittersRCV000416147 RCV001080204 RCV002365457 RCV004591144

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_000051.4(ATM):c.497-1G>A

SNV
Germline

Chr11:108243952

Likely pathogenic

Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA6264624

rs_778624615

2 SubmittersRCV001865311 RCV004022190

NM_000051.4(ATM):c.1236-2A>T

SNV
Germline/somatic

Chr11:108250699

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast
Malignant tumor of urinary bladder
Acute myeloid leukemia
Malignant tumor of esophagus
Cervical cancer
Sarcoma
ATM-related cancer predisposition

Criteria Provided
Multiple Submitters
No Conflicts

CA6264792

rs_80159221

7 SubmittersRCV000492860 RCV000988653 RCV004022189 RCV003332166 RCV005900702 RCV005900703 RCV005900704 RCV005900705 RCV006554521

NM_000546.6(TP53):c.730G>T (p.Gly244Cys)

SNV
Germline/somatic

Chr17:7674233

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Familial cancer of breast
Condition: not provided
Hereditary cancer-predisposing syndrome
Ovarian serous cystadenocarcinoma
Neoplasm

Criteria Provided
Conflicting Classifications

CA16603021

rs_1057519989

7 SubmittersRCV000538079 RCV001270273 RCV001567979 RCV002379286 RCV005900739 RCV006273738

NM_000546.6(TP53):c.536A>G (p.His179Arg)

SNV
Germline/somatic

Chr17:7675076

Pathogenic/Likely pathogenic

Li-Fraumeni syndrome
Ovarian neoplasm
Hereditary cancer-predisposing syndrome
Condition: not provided
TP53-related disorder
Li-Fraumeni syndrome 1
Pancreatic adenocarcinoma
Squamous cell carcinoma of the head and neck
Malignant tumor of urinary bladder
Colon adenocarcinoma
Glioma susceptibility 1
Acute myeloid leukemia
Familial cancer of breast
Uterine corpus endometrial carcinoma
Gastric cancer
Squamous cell lung carcinoma
Ovarian serous cystadenocarcinoma
Uterine carcinosarcoma
Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype
Medulloblastoma SHH activated and TP53 mutant
Astrocytoma IDH-mutant
Neoplasm

Criteria Provided
Multiple Submitters
No Conflicts

CA16603027

rs_1057519991

12 SubmittersRCV000529132 RCV000785555 RCV001023983 RCV001591055 RCV003983035 RCV004022216 RCV005900747 RCV005900742 RCV005900746 RCV005900741 RCV005900743 RCV005900745 RCV005900740 RCV005900751 RCV005900748 RCV005900744 RCV005900749 RCV005900750 RCV006254035 RCV006254037 RCV006254036 RCV006273739

NM_001377299.1(NDUFS2):c.1355-4C>G

SNV
Germline

Chr1:161214152

Conflicting classifications of pathogenicity

Condition: not provided
Mitochondrial complex I deficiency, nuclear type 1
Uterine corpus endometrial carcinoma
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA1208875

rs_147235167

6 SubmittersRCV000885375 RCV001100981 RCV005900850 RCV005900849

NM_018122.5(DARS2):c.128-4A>T

SNV
Germline

Chr1:173826683

Conflicting classifications of pathogenicity

Condition: not provided
Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
Thymoma
Familial cancer of breast
Clear cell carcinoma of kidney
Pancreatic adenocarcinoma
Malignant tumor of urinary bladder
not specified

Criteria Provided
Conflicting Classifications

CA1250010

rs_769597479

7 SubmittersRCV000881319 RCV001099404 RCV005900826 RCV005900822 RCV005900824 RCV005900825 RCV005900823 RCV006447150

NM_000465.4(BARD1):c.158+5A>G

SNV
Germline

Chr2:214809407

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA16604050

rs_1057522270

4 SubmittersRCV000443036 RCV001012253 RCV002521750

NM_000465.4(BARD1):c.1205C>G (p.Ser402Ter)

SNV
Germline

Chr2:214780669

Pathogenic/Likely pathogenic

Condition: not provided
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA16604101

rs_796666047

6 SubmittersRCV000432054 RCV000685501 RCV001805044

NM_015662.3(IFT172):c.1525-6C>G

SNV
Germline

Chr2:27471101

Conflicting classifications of pathogenicity

not specified
Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71
Condition: not provided
Bardet-Biedl syndrome 20
Short-rib thoracic dysplasia 10 with or without polydactyly
Retinitis pigmentosa 71
Malignant tumor of esophagus
Familial cancer of breast
Cervical cancer
Ovarian serous cystadenocarcinoma
Acute myeloid leukemia

Criteria Provided
Conflicting Classifications

CA1580594

rs_201231401

6 SubmittersRCV000433325 RCV000877807 RCV001727724 RCV002506060 RCV005898063 RCV005898061 RCV005898064 RCV005898065 RCV005898062

NM_000179.3(MSH6):c.-12C>G

SNV
Germline

Chr2:47783222

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Lynch syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA067463

rs_766407370

6 SubmittersRCV000443454 RCV000580863 RCV003996067 RCV005355733

NM_000465.4(BARD1):c.1622C>A (p.Ser541Ter)

SNV
Germline

Chr2:214752502

Pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA16604377

rs_777937955

7 SubmittersRCV000438118 RCV000582853 RCV001388794

NM_198428.3(BBS9):c.2258A>T (p.Glu753Val)

SNV
Germline

Chr7:33505605

Conflicting classifications of pathogenicity

Condition: not provided
Bardet-Biedl syndrome
Bardet-Biedl syndrome 9
Inborn genetic diseases
BBS9-related disorder
Retinal dystrophy
Sarcoma
Clear cell carcinoma of kidney
Ovarian serous cystadenocarcinoma
Adrenocortical carcinoma, hereditary
Lung cancer
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA4214639

rs_61764068

9 SubmittersRCV000417647 RCV001083313 RCV001165275 RCV002521642 RCV003912685 RCV004816660 RCV005896668 RCV005896667 RCV005896669 RCV005896666 RCV005896670 RCV005896665

NM_000051.4(ATM):c.489G>A (p.Gln163=)

SNV
Germline

Chr11:108235827

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA16605755

rs_1057523087

6 SubmittersRCV000528589 RCV000575735 RCV001698214 RCV003235213 RCV004591248

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_000051.4(ATM):c.5005+15T>A

SNV
Germline

Chr11:108297397

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA6265595

rs_377355762

5 SubmittersRCV000420866 RCV000580446 RCV001103814 RCV005355713

NM_000051.4(ATM):c.5006-8A>G

SNV
Germline

Chr11:108299706

Conflicting classifications of pathogenicity

not specified
Ataxia-telangiectasia syndrome
Familial cancer of breast
Condition: not provided

Criteria Provided
Conflicting Classifications

CA16605807

rs_1057520447

4 SubmittersRCV000426289 RCV000460491 RCV004591158 RCV006259892

NM_000051.4(ATM):c.6096-14A>G

SNV
Germline

Chr11:108315997

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6265863

rs_184029731

6 SubmittersRCV000439213 RCV000580952 RCV001861490 RCV001796033 RCV005365269

NM_000051.4(ATM):c.6219C>T (p.Leu2073=)

SNV
Germline

Chr11:108317393

Conflicting classifications of pathogenicity

not specified
Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA16605818

rs_752478345

5 SubmittersRCV000431976 RCV000980136 RCV002365569 RCV004591274

NM_000051.4(ATM):c.8262T>G (p.Thr2754=)

SNV
Germline

Chr11:108335955

Conflicting classifications of pathogenicity

not specified
Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA16605840

rs_1057521506

4 SubmittersRCV000428132 RCV002062563 RCV004022366 RCV004591194

NM_000051.4(ATM):c.2124+6A>T

SNV
Germline

Chr11:108254045

Conflicting classifications of pathogenicity

not specified
Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA6264935

rs_550998406

5 SubmittersRCV000437197 RCV000457971 RCV001186650 RCV004591218

NM_000051.4(ATM):c.3285-12G>A

SNV
Germline

Chr11:108279479

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA16606059

rs_1057521452

4 SubmittersRCV000442856 RCV001805048 RCV002062531 RCV004591191

NM_000051.4(ATM):c.3994-12G>T

SNV
Germline

Chr11:108287588

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA16606069

rs_1057520398

5 SubmittersRCV000436977 RCV000580794 RCV002061572 RCV004591154

NM_000051.4(ATM):c.4106C>A (p.Ser1369Ter)

SNV
Germline

Chr11:108287712

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA16606070

rs_1057520640

8 SubmittersRCV000435435 RCV000472677 RCV000565000 RCV002506024 RCV003470377

NM_000051.4(ATM):c.6096-2A>G

SNV
Germline

Chr11:108316009

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA501172

rs_1057520704

3 SubmittersRCV000438350 RCV001024888 RCV005246948

NM_000051.4(ATM):c.6453-3T>C

SNV
Germline

Chr11:108321298

Conflicting classifications of pathogenicity

not specified
Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA6265952

rs_768073845

4 SubmittersRCV000419794 RCV001368282 RCV002365516 RCV004591211

NM_000051.4(ATM):c.2115C>G (p.Tyr705Ter)

SNV
Germline

Chr11:108254030

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA16606161

rs_876659149

4 SubmittersRCV000433818 RCV002522504 RCV002418317 RCV004022444

NM_000051.4(ATM):c.5178-11G>A

SNV
Germline

Chr11:108301637

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA16606193

rs_200876654

7 SubmittersRCV000428412 RCV000672242 RCV001179338 RCV001357439 RCV004591170

NM_000051.4(ATM):c.7314A>C (p.Thr2438=)

SNV
Germline

Chr11:108330220

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6266096

rs_199909913

5 SubmittersRCV000472317 RCV000572014 RCV001703580 RCV004591172

NM_000051.4(ATM):c.8151+3G>A

SNV
Germline

Chr11:108335112

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA6266279

rs_760065522

6 SubmittersRCV000423664 RCV001027229 RCV001211248 RCV004591175

NM_000051.4(ATM):c.8851-10C>T

SNV
Germline

Chr11:108365072

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Breast and/or ovarian cancer
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA16606226

rs_1057521676

5 SubmittersRCV000628296 RCV001177842 RCV001720186 RCV003492044 RCV004591201

NM_004990.4(MARS1):c.2391A>C (p.Thr797=)

SNV
Germline

Chr12:57515336

Conflicting classifications of pathogenicity

not specified
Charcot-Marie-Tooth disease axonal type 2U
Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
Charcot-Marie-Tooth disease
Condition: not provided
MARS1-related disorder
Ovarian serous cystadenocarcinoma
Thyroid cancer, nonmedullary, 1
Uterine carcinosarcoma
Acute myeloid leukemia
Cervical cancer
Familial cancer of breast
Uterine corpus endometrial carcinoma
Clear cell carcinoma of kidney
Colon adenocarcinoma
Sarcoma

Criteria Provided
Conflicting Classifications

CA6650784

rs_140573721

9 SubmittersRCV000428931 RCV000555547 RCV001173652 RCV001532701 RCV003942439 RCV005898090 RCV005898092 RCV005898091 RCV005898086 RCV005898087 RCV005898084 RCV005898093 RCV005898088 RCV005898085 RCV005898089

NM_000051.4(ATM):c.901+1G>C

SNV
Germline

Chr11:108245027

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA16606776

rs_748840480

4 SubmittersRCV000439479 RCV001018639 RCV004022310 RCV006462662

NM_000051.4(ATM):c.3480G>T (p.Val1160=)

SNV
Germline

Chr11:108281072

Conflicting classifications of pathogenicity

not specified
Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA16606807

rs_1001303564

4 SubmittersRCV000436361 RCV000628258 RCV002450979 RCV004591178

NM_000051.4(ATM):c.6453-5A>G

SNV
Germline

Chr11:108321296

Conflicting classifications of pathogenicity

Carcinoma of colon
Ataxia-telangiectasia syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA6265951

rs_755177899

6 SubmittersRCV001354090 RCV001455746 RCV001721479 RCV003298457 RCV004591278

NM_000051.4(ATM):c.8641C>T (p.Gln2881Ter)

SNV
Germline/somatic

Chr11:108347335

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA16606855

rs_1057520672

6 SubmittersRCV000421983 RCV001386462 RCV002446664 RCV004567907 RCV005044635 RCV005230331

NM_001009944.3(PKD1):c.10325C>T (p.Ala3442Val)

SNV
Germline

Chr16:2097399

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Inborn genetic diseases
Polycystic kidney disease, adult type
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA7829658

rs_144593342

9 SubmittersRCV000428826 RCV000756521 RCV004022416 RCV005398551 RCV005898035

NM_024675.4(PALB2):c.1746C>T (p.Ser582=)

SNV
Germline

Chr16:23630408

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided

Criteria Provided
Conflicting Classifications

CA16607213

rs_1057520985

6 SubmittersRCV000430741 RCV000775902 RCV001490679 RCV003477918

NM_024675.4(PALB2):c.1685-14T>A

SNV
Germline

Chr16:23630483

Conflicting classifications of pathogenicity

not specified
Familial cancer of breast
Hereditary cancer-predisposing syndrome
PALB2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA7963670

rs_780772404

6 SubmittersRCV000443095 RCV000663142 RCV003584602 RCV005355771

NM_024675.4(PALB2):c.1438A>T (p.Lys480Ter)

SNV
Germline

Chr16:23635108

Pathogenic

Condition: not provided
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA16607220

rs_1057520653

6 SubmittersRCV000424678 RCV001390153 RCV005384711

NM_024675.4(PALB2):c.66A>G (p.Ala22=)

SNV
Germline

Chr16:23638112

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group N
Condition: not provided
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA16607223

rs_1057520982

6 SubmittersRCV000569467 RCV001119846 RCV000923663 RCV001456862

NM_024675.4(PALB2):c.2992G>A (p.Gly998Arg)

SNV
Germline

Chr16:23622973

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA16607334

rs_1039184417

4 SubmittersRCV000442850 RCV000775926 RCV001046244

NM_024675.4(PALB2):c.1685-1G>C

SNV
Germline

Chr16:23630470

Pathogenic/Likely pathogenic

Condition: not provided
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA16607339

rs_1057520645

6 SubmittersRCV000431972 RCV001055212 RCV002411312

NM_032043.3(BRIP1):c.3093T>C (p.Ser1031=)

SNV
Germline

Chr17:61683953

Conflicting classifications of pathogenicity

Familial cancer of breast
Fanconi anemia complementation group J
Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group J
Condition: not provided
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA16607407

rs_937490699

5 SubmittersRCV000893813 RCV001018562 RCV001125759 RCV001696774 RCV004791462

NM_032043.3(BRIP1):c.2257+5C>T

SNV
Germline

Chr17:61744427

Conflicting classifications of pathogenicity

not specified
Fanconi anemia complementation group J
Familial cancer of breast
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA16607409

rs_1057523068

5 SubmittersRCV000439254 RCV000552085 RCV000989997 RCV002446721 RCV005641614

NM_032043.3(BRIP1):c.2102T>G (p.Leu701Ter)

SNV
Germline

Chr17:61744587

Pathogenic

Condition: not provided
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA16607410

rs_876658270

3 SubmittersRCV000423786 RCV003335323 RCV004022325

NM_000546.6(TP53):c.-11G>A

SNV
Germline

Chr17:7676605

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Li-Fraumeni syndrome

Criteria Provided
Conflicting Classifications

CA004011

rs_773666793

4 SubmittersRCV000433273 RCV001176466 RCV001198687 RCV004000417

NM_000546.6(TP53):c.673-1G>A

SNV
Germline/somatic

Chr17:7674291

Pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1
Squamous cell carcinoma of the head and neck
Squamous cell lung carcinoma
Neoplasm
Ovarian serous cystadenocarcinoma
Nonpapillary renal cell carcinoma
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA16607882

rs_878854073

8 SubmittersRCV000418491 RCV000708630 RCV001034938 RCV002289552 RCV005900878 RCV005900879 RCV006273750 RCV005900881 RCV005900880 RCV005900877

NM_000546.6(TP53):c.-12C>T

SNV
Germline

Chr17:7676606

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1
12 conditions
Familial cancer of breast
Li-Fraumeni syndrome 1

Criteria Provided
Conflicting Classifications

CA004012

rs_375229869

6 SubmittersRCV000434247 RCV000583581 RCV002289573 RCV002488960 RCV005365293

NM_024675.4(PALB2):c.2993G>C (p.Gly998Ala)

SNV
Germline

Chr16:23622972

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA16608106

rs_45551636

4 SubmittersRCV000425596 RCV000775893 RCV001038066

NM_024675.4(PALB2):c.1611G>A (p.Ser537=)

SNV
Germline

Chr16:23634935

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group N
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 5
not specified

Criteria Provided
Conflicting Classifications

CA7963693

rs_730881874

11 SubmittersRCV000572139 RCV000989569 RCV001121721 RCV001703482 RCV005355718 RCV005407090

NM_024675.4(PALB2):c.1424C>A (p.Ser475Ter)

SNV
Germline

Chr16:23635122

Pathogenic

Condition: not provided
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA16608121

rs_886039479

3 SubmittersRCV000436797 RCV003449055 RCV005384712

NM_007194.4(CHEK2):c.823G>T (p.Glu275Ter)

SNV
Germline

Chr22:28710029

Pathogenic

Condition: not provided
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA16608149

rs_749963436

2 SubmittersRCV000432752 RCV003335322

NM_007194.4(CHEK2):c.593-15T>A

SNV
Germline

Chr22:28719500

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Li-Fraumeni syndrome

Criteria Provided
Conflicting Classifications

CA16608152

rs_757717459

6 SubmittersRCV000435307 RCV000580819 RCV000662854 RCV005355752

NM_004360.5(CDH1):c.1565+13A>G

SNV
Germline

Chr16:68815772

Conflicting classifications of pathogenicity

not specified
Hereditary diffuse gastric adenocarcinoma
Ovarian cancer
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA16608246

rs_1057522979

4 SubmittersRCV000418515 RCV002522414 RCV005355768

NM_003620.4(PPM1D):c.1267G>T (p.Glu423Ter)

SNV
Germline

Chr17:60663001

Pathogenic

Condition: not provided
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA16608564

rs_1057524700

2 SubmittersRCV000440479 RCV002248662

NM_032043.3(BRIP1):c.2493-4C>G

SNV
Germline

Chr17:61693516

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group J

Criteria Provided
Conflicting Classifications

CA16608567

rs_1057521675

3 SubmittersRCV000427580 RCV001015694 RCV002062630

NM_032043.3(BRIP1):c.408A>C (p.Ala136=)

SNV
Germline

Chr17:61849228

Conflicting classifications of pathogenicity

not specified
Familial cancer of breast
Fanconi anemia complementation group J
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA16608582

rs_876660891

7 SubmittersRCV000435495 RCV000476947 RCV000571585 RCV000990036

NM_007194.4(CHEK2):c.1009-4G>A

SNV
Germline

Chr22:28696991

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA16608604

rs_1057521735

4 SubmittersRCV000429102 RCV004948285 RCV005246977

NM_007194.4(CHEK2):c.847-7T>G

SNV
Germline

Chr22:28703573

Conflicting classifications of pathogenicity

not specified
Familial cancer of breast
Condition: not provided

Criteria Provided
Conflicting Classifications

CA16608609

rs_1057520267

4 SubmittersRCV000425715 RCV001475129 RCV006259890

NM_007194.4(CHEK2):c.592+9A>G

SNV
Germline

Chr22:28724968

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA10167975

rs_538351542

7 SubmittersRCV000428609 RCV000777676 RCV000759043 RCV001089179

NM_007194.4(CHEK2):c.1461+4G>A

SNV
Germline

Chr22:28694028

Conflicting classifications of pathogenicity

not specified
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA16609081

rs_1057522400

7 SubmittersRCV000420551 RCV000459808 RCV000584112 RCV004999402

NM_024675.4(PALB2):c.3464C>G (p.Ser1155Cys)

SNV
Germline

Chr16:23603556

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7963332

rs_755609496

5 SubmittersRCV000454280 RCV000529716 RCV000480681

NM_024675.4(PALB2):c.3202-2A>C

SNV
Germline

Chr16:23608014

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA16609588

rs_1060499827

4 SubmittersRCV000454196 RCV000576715

NM_024675.4(PALB2):c.2748+2T>C

SNV
Germline

Chr16:23626234

Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA16609594

rs_1060499821

2 SubmittersRCV000454214 RCV003449105

NM_024675.4(PALB2):c.2473A>G (p.Arg825Gly)

SNV
Germline

Chr16:23629681

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group N
Pancreatic cancer, susceptibility to, 3
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA7963569

rs_745747228

4 SubmittersRCV000454362 RCV000764048 RCV001861653

NM_024675.4(PALB2):c.1039G>T (p.Glu347Ter)

SNV
Germline

Chr16:23635507

Pathogenic

Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 5
Familial cancer of breast
Inherited breast cancer and ovarian cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA16609602

rs_1060499812

6 SubmittersRCV000454356 RCV003315427 RCV003239290 RCV006612341

NM_024675.4(PALB2):c.931A>T (p.Lys311Ter)

SNV
Germline

Chr16:23635615

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA16609604

rs_1060499831

3 SubmittersRCV000454180 RCV003476020

NM_024675.4(PALB2):c.108+1G>A

SNV
Germline

Chr16:23638069

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Pancreatic cancer, susceptibility to, 3
Breast cancer, susceptibility to

Criteria Provided
Multiple Submitters
No Conflicts

CA16609606

rs_1060499814

12 SubmittersRCV000454354 RCV000466548 RCV000484652 RCV001258109

NM_024675.4(PALB2):c.106C>T (p.Gln36Ter)

SNV
Germline

Chr16:23638072

Pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Pancreatic cancer, susceptibility to, 3
Familial cancer of breast
Fanconi anemia complementation group N
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA16609607

rs_757369748

8 SubmittersRCV000454301 RCV000657579 RCV000763378 RCV001380280

NM_000059.4(BRCA2):c.-39-1G>A

SNV
Germline

Chr13:32316421

Likely pathogenic

Breast-ovarian cancer, familial, susceptibility to, 2
BRCA2-related cancer predisposition
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA16609830

rs_1060499566

3 SubmittersRCV000456118 RCV005355792 RCV003463835

NM_000051.4(ATM):c.7089+1G>T

SNV
Unknown

Chr11:108327759

Likely pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA16609836

rs_777741666

2 SubmittersRCV000465910

NM_000310.4(PPT1):c.234+7C>T

SNV
Germline

Chr1:40092391

Conflicting classifications of pathogenicity

Neuronal ceroid lipofuscinosis 1
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA789777

rs_200777536

4 SubmittersRCV000461907 RCV005899488

NM_000465.4(BARD1):c.1677+1G>C

SNV
Germline

Chr2:214752446

Likely pathogenic

Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA16610581

rs_1060501310

2 SubmittersRCV000474756

NM_000465.4(BARD1):c.1256A>G (p.Asn419Ser)

SNV
Germline

Chr2:214780618

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2090321

rs_776723079

6 SubmittersRCV000465845 RCV000776444 RCV003235221 RCV005639125

NM_000465.4(BARD1):c.520A>C (p.Ser174Arg)

SNV
Germline

Chr2:214781354

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA16610595

rs_1060501295

3 SubmittersRCV000466933 RCV002339144

NM_000465.4(BARD1):c.173G>A (p.Arg58Lys)

SNV
Germline

Chr2:214797103

Conflicting classifications of pathogenicity

Familial cancer of breast
Condition: not provided
Hereditary cancer-predisposing syndrome
not specified

Criteria Provided
Conflicting Classifications

CA2090491

rs_774009993

7 SubmittersRCV000462863 RCV000481113 RCV000574056 RCV003493575

NM_000465.4(BARD1):c.2051A>G (p.Lys684Arg)

SNV
Germline

Chr2:214728959

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2090081

rs_780161956

4 SubmittersRCV000469773 RCV000571857 RCV004596188 RCV006277838

NM_000465.4(BARD1):c.1904-5G>T

SNV
Germline

Chr2:214730513

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
BARD1-related disorder

Criteria Provided
Conflicting Classifications

CA2090118

rs_376639978

5 SubmittersRCV000462946 RCV000561248 RCV003899961

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.808G>C (p.Glu270Gln)

SNV
Germline

Chr2:214781066

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA16610656

rs_1060501288

3 SubmittersRCV000475332 RCV000561864 RCV006450189

NM_000465.4(BARD1):c.568G>C (p.Asp190His)

SNV
Germline

Chr2:214781306

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA16610659

rs_369561166

2 SubmittersRCV000468682 RCV003298481

NM_000465.4(BARD1):c.1761G>C (p.Glu587Asp)

SNV
Germline

Chr2:214745771

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
not specified

Criteria Provided
Conflicting Classifications

CA16610686

rs_1060501284

5 SubmittersRCV000465548 RCV000563027 RCV005239023

NM_000465.4(BARD1):c.1395+4G>T

SNV
Germline

Chr2:214769228

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA16610693

rs_1025329798

5 SubmittersRCV000475680 RCV000572496 RCV001836823

NM_000465.4(BARD1):c.1055T>C (p.Val352Ala)

SNV
Germline

Chr2:214780819

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA2090344

rs_773918507

6 SubmittersRCV000466654 RCV000562836 RCV001564268 RCV001824787

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_000465.4(BARD1):c.965G>A (p.Arg322His)

SNV
Germline

Chr2:214780909

Conflicting classifications of pathogenicity

Familial cancer of breast
Condition: not provided
Hereditary cancer-predisposing syndrome
not specified
BARD1-related disorder
BARD1-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA2090356

rs_774251286

10 SubmittersRCV000476140 RCV000483636 RCV000565795 RCV000780953 RCV004740232 RCV005600920

NM_000465.4(BARD1):c.2155A>G (p.Thr719Ala)

SNV
Germline

Chr2:214728855

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA2090071

rs_771852699

8 SubmittersRCV000465002 RCV000579794 RCV000679337 RCV001357531

NM_000465.4(BARD1):c.1759G>A (p.Glu587Lys)

SNV
Germline

Chr2:214745773

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA2090176

rs_780820468

2 SubmittersRCV000468259 RCV001012995

NM_000465.4(BARD1):c.1137A>C (p.Lys379Asn)

SNV
Germline

Chr2:214780737

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA16610736

rs_1060501306

6 SubmittersRCV000475280 RCV000568338

NM_000465.4(BARD1):c.1126T>G (p.Ser376Ala)

SNV
Germline

Chr2:214780748

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA16610739

rs_1060501279

5 SubmittersRCV000462114 RCV000562204

NM_000465.4(BARD1):c.933G>T (p.Lys311Asn)

SNV
Germline

Chr2:214780941

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
BARD1-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA16610744

rs_1060501297

5 SubmittersRCV000476251 RCV000566726 RCV003392276 RCV006259936

NM_000465.4(BARD1):c.526C>T (p.Gln176Ter)

SNV
Germline

Chr2:214781348

Pathogenic

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA2090414

rs_776851287

2 SubmittersRCV000462626 RCV002348302

NM_000368.5(TSC1):c.2626-3C>T

SNV
Germline

Chr9:132897613

Conflicting classifications of pathogenicity

Tuberous sclerosis 1
Condition: not provided
Hereditary cancer-predisposing syndrome
TSC1-related disorder
Tuberous sclerosis syndrome
Acute myeloid leukemia
Cholangiocarcinoma
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA16612736

rs_1060503192

11 SubmittersRCV000460170 RCV001703175 RCV002429538 RCV003912811 RCV005401450 RCV005899501 RCV005899502 RCV005899500

NM_000051.4(ATM):c.526C>G (p.Leu176Val)

SNV
Germline

Chr11:108243982

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA6264627

rs_375798802

5 SubmittersRCV000467265 RCV000579672 RCV004567997

NM_000051.4(ATM):c.1556T>C (p.Val519Ala)

SNV
Germline

Chr11:108251021

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
ATM-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA6264827

rs_574458765

8 SubmittersRCV000477403 RCV001012102 RCV004568006 RCV004999445 RCV005355824

NM_000051.4(ATM):c.1661C>T (p.Thr554Met)

SNV
Germline

Chr11:108251890

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA16612997

rs_1060501694

14 SubmittersRCV000458148 RCV000484925 RCV000561104 RCV002291630 RCV005044676 RCV005407118

NM_000051.4(ATM):c.1838T>G (p.Val613Gly)

SNV
Germline

Chr11:108252852

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA16613012

rs_762018538

9 SubmittersRCV000472274 RCV000572810 RCV001194266 RCV001584149 RCV003476061

NM_000051.4(ATM):c.1939G>T (p.Glu647Ter)

SNV
Germline

Chr11:108253854

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA16613019

rs_1060501599

5 SubmittersRCV000464991 RCV000567510 RCV000657762 RCV003168781 RCV004022646

NM_000051.4(ATM):c.3432G>A (p.Leu1144=)

SNV
Germline

Chr11:108281024

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA16613036

rs_1060501625

7 SubmittersRCV000476703 RCV001177305 RCV004591302 RCV004591303

NM_000051.4(ATM):c.121A>G (p.Lys41Glu)

SNV
Germline

Chr11:108227824

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA16613044

rs_1060501672

7 SubmittersRCV000472729 RCV000775928 RCV005044674 RCV005355821

NM_000051.4(ATM):c.4318A>T (p.Lys1440Ter)

SNV
Germline

Chr11:108289683

Pathogenic

Ataxia-telangiectasia syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast
ATM-related cancer predisposition

Reviewed By Expert Panel

CA16613046

rs_1060501551

8 SubmittersRCV000464318 RCV000657607 RCV001022283 RCV004022640 RCV005001054

NM_000051.4(ATM):c.662+1G>A

SNV
Germline

Chr11:108244119

Likely pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA16613056

rs_1060501690

3 SubmittersRCV000471240 RCV001025464 RCV004022660

NM_000051.4(ATM):c.5189G>T (p.Arg1730Leu)

SNV
Germline

Chr11:108301659

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast
not specified

Criteria Provided
Conflicting Classifications

CA16613065

rs_373789346

6 SubmittersRCV000463817 RCV000580727 RCV005044670 RCV004701498

NM_000051.4(ATM):c.1466G>T (p.Cys489Phe)

SNV
Germline

Chr11:108250931

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6264817

rs_776412334

5 SubmittersRCV000469083 RCV001011533 RCV001558594 RCV003463891

NM_000051.4(ATM):c.1695A>G (p.Glu565=)

SNV
Germline

Chr11:108251924

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6264858

rs_780932013

11 SubmittersRCV000472970 RCV000483767 RCV000563909 RCV003470443 RCV005044678

NM_000051.4(ATM):c.5999G>A (p.Ser2000Asn)

SNV
Germline

Chr11:108312491

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
not specified
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA6265813

rs_775921052

5 SubmittersRCV000470652 RCV001821249 RCV004568001 RCV004022650

NM_000051.4(ATM):c.1902A>G (p.Glu634=)

SNV
Germline

Chr11:108253817

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA16613084

rs_1060501633

8 SubmittersRCV000460856 RCV000566883 RCV001692130 RCV004591304

NM_000051.4(ATM):c.2095G>C (p.Glu699Gln)

SNV
Germline

Chr11:108254010

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Ovarian cancer
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA16613085

rs_1060501539

6 SubmittersRCV000460079 RCV000581722 RCV003153614 RCV003470413

NM_000051.4(ATM):c.6272G>A (p.Trp2091Ter)

SNV
Germline

Chr11:108317446

Pathogenic

Ataxia-telangiectasia syndrome
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA16613098

rs_1060501712

4 SubmittersRCV000467316 RCV004591310 RCV004668982

NM_000051.4(ATM):c.2547G>A (p.Val849=)

SNV
Germline

Chr11:108267251

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
not specified
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA16613106

rs_1060504262

4 SubmittersRCV000471465 RCV001015919 RCV003321622 RCV004591332

NM_000051.4(ATM):c.2554C>T (p.Gln852Ter)

SNV
Germline

Chr11:108267258

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA6265059

rs_758081262

14 SubmittersRCV000457787 RCV000762819 RCV001015914 RCV003155940 RCV003168780 RCV004696912

NM_000051.4(ATM):c.3214G>T (p.Glu1072Ter)

SNV
Germline

Chr11:108272782

Pathogenic

Ataxia-telangiectasia syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Breast cancer, susceptibility to
Familial cancer of breast
ATM-related cancer predisposition

Reviewed By Expert Panel

CA16613125

rs_1060501687

11 SubmittersRCV000459347 RCV000478659 RCV001019287 RCV001258118 RCV003463890 RCV005001055

NM_000051.4(ATM):c.3240C>A (p.Asp1080Glu)

SNV
Germline

Chr11:108272808

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6265231

rs_149911447

8 SubmittersRCV000470743 RCV000481741 RCV000575167 RCV001358722 RCV003470439

NM_000051.4(ATM):c.7818A>G (p.Ile2606Met)

SNV
Germline

Chr11:108332791

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA16613132

rs_1027959208

8 SubmittersRCV000485307 RCV000474353 RCV000565171 RCV005049556 RCV006273773

NM_000051.4(ATM):c.4036G>T (p.Glu1346Ter)

SNV
Germline

Chr11:108287642

Pathogenic/Likely pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA16613138

rs_1060501528

3 SubmittersRCV000461052 RCV001021727 RCV004567989

NM_000051.4(ATM):c.4114T>C (p.Leu1372=)

SNV
Germline

Chr11:108288981

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6265406

rs_762242838

5 SubmittersRCV000467849 RCV001021897 RCV004591373 RCV006260021

NM_000051.4(ATM):c.4906C>T (p.Gln1636Ter)

SNV
Germline

Chr11:108295056

Pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
ATM-related cancer predisposition

Criteria Provided
Multiple Submitters
No Conflicts

CA16613152

rs_1060501627

5 SubmittersRCV000456566 RCV001187841 RCV003148742 RCV004022648 RCV006554530

NM_000051.4(ATM):c.4910A>G (p.Asp1637Gly)

SNV
Germline

Chr11:108297287

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Familial colorectal cancer type X

Criteria Provided
Conflicting Classifications

CA6265583

rs_763457172

13 SubmittersRCV000456711 RCV000571141 RCV002473013 RCV003230499 RCV005355815

NM_000051.4(ATM):c.8164C>T (p.Leu2722=)

SNV
Germline

Chr11:108335857

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6266314

rs_587782399

7 SubmittersRCV000477334 RCV000580302 RCV004591390 RCV006260022 RCV006268797

NM_000051.4(ATM):c.5950A>T (p.Thr1984Ser)

SNV
Germline

Chr11:108312442

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA16613163

rs_1060501603

7 SubmittersRCV000474790 RCV000568406 RCV001556379 RCV003470421 RCV006263959

NM_000051.4(ATM):c.6658C>T (p.Gln2220Ter)

SNV
Germline

Chr11:108325395

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA16613190

rs_1060501536

10 SubmittersRCV000470482 RCV000497262 RCV001090518 RCV003155941 RCV005044669

NM_000051.4(ATM):c.185+4T>A

SNV
Germline

Chr11:108227892

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA16613223

rs_1060501685

3 SubmittersRCV000473109 RCV000566818 RCV004591307

NM_000051.4(ATM):c.279G>A (p.Lys93=)

SNV
Germline

Chr11:108229271

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6264545

rs_368196317

4 SubmittersRCV000456197 RCV000574249 RCV001468789 RCV004591367

NM_000051.4(ATM):c.8880G>A (p.Trp2960Ter)

SNV
Germline

Chr11:108365111

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA16613231

rs_1060501650

6 SubmittersRCV000472679 RCV000493966 RCV001753883 RCV003463886

NM_000051.4(ATM):c.2459A>G (p.Lys820Arg)

SNV
Germline

Chr11:108259068

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA16613280

rs_952566855

4 SubmittersRCV000473412 RCV002446807 RCV003470444 RCV006259941

NM_000051.4(ATM):c.2474T>G (p.Phe825Cys)

SNV
Germline

Chr11:108267178

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA16613284

rs_1060501648

7 SubmittersRCV000471039 RCV000775700 RCV003479123 RCV003470430 RCV004999444

NM_000051.4(ATM):c.1227T>C (p.Leu409=)

SNV
Germline

Chr11:108249094

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA16613316

rs_1060504273

6 SubmittersRCV000481318 RCV000569918 RCV001088601 RCV004591342

NM_000051.4(ATM):c.3320T>A (p.Leu1107Ter)

SNV
Germline

Chr11:108279526

Pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
ATM-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA16613322

rs_1060501711

7 SubmittersRCV000460640 RCV000571628 RCV000485900 RCV003470445 RCV004740236

NM_000051.4(ATM):c.4110-9C>G

SNV
Germline

Chr11:108288968

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA16613348

rs_730881367

7 SubmittersRCV000474638 RCV000479444 RCV001021891 RCV003476060

NM_000051.4(ATM):c.5062A>G (p.Ile1688Val)

SNV
Germline

Chr11:108299770

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6265624

rs_766053182

8 SubmittersRCV000470295 RCV000481399 RCV000568598 RCV000779765 RCV003470440

NM_000051.4(ATM):c.2466+8T>A

SNV
Germline

Chr11:108259083

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast
not specified

Criteria Provided
Conflicting Classifications

CA6265028

rs_765619483

4 SubmittersRCV001078578 RCV001185286 RCV004591382 RCV005407134

NM_000051.4(ATM):c.2638+6T>C

SNV
Germline

Chr11:108267348

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6265071

rs_768305533

7 SubmittersRCV000474452 RCV000584345 RCV000579264 RCV005398596

NM_000051.4(ATM):c.5319+8A>G

SNV
Germline

Chr11:108301797

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast
not specified

Criteria Provided
Conflicting Classifications

CA6265673

rs_375051697

5 SubmittersRCV000467409 RCV000771459 RCV004591341 RCV005056037

NM_000051.4(ATM):c.5470C>T (p.Leu1824Phe)

SNV
Germline

Chr11:108303003

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6265706

rs_764784077

11 SubmittersRCV000469808 RCV000679129 RCV000771874 RCV003114582 RCV003470438

NM_000051.4(ATM):c.2908C>T (p.Leu970=)

SNV
Germline

Chr11:108271133

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA16613377

rs_1060504260

7 SubmittersRCV000463142 RCV000567194 RCV001591120 RCV004591331

NM_000051.4(ATM):c.5914A>G (p.Lys1972Glu)

SNV
Germline

Chr11:108310311

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
not specified
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA16613395

rs_1060501652

6 SubmittersRCV000461483 RCV000587661 RCV000574705 RCV004568002

NM_000051.4(ATM):c.3284+1G>C

SNV
Germline

Chr11:108272853

Likely pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA16613402

rs_864622129

3 SubmittersRCV000459518 RCV002323709 RCV004022645

NM_000051.4(ATM):c.6325T>G (p.Trp2109Gly)

SNV
Germline

Chr11:108317499

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA16613408

rs_1060501654

5 SubmittersRCV000463293 RCV000478293 RCV000562429 RCV003470432

NM_000051.4(ATM):c.6759A>C (p.Lys2253Asn)

SNV
Germline

Chr11:108325496

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
not specified
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA16613416

rs_1060501602

7 SubmittersRCV000474857 RCV000583932 RCV003323546 RCV004567994 RCV005861110

NM_000051.4(ATM):c.4110-1G>A

SNV
Germline

Chr11:108288976

Pathogenic/Likely pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA16613418

rs_1060501692

7 SubmittersRCV000462992 RCV000566126 RCV001310115

NM_000051.4(ATM):c.4910-1G>T

SNV
Germline

Chr11:108297286

Likely pathogenic

Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA16613425

rs_1060501706

3 SubmittersRCV000477465 RCV003155942

NM_000051.4(ATM):c.7500C>T (p.Val2500=)

SNV
Germline

Chr11:108330406

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Breast and/or ovarian cancer
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA16613429

rs_1060504286

6 SubmittersRCV000462023 RCV000580070 RCV001567892 RCV003150226 RCV004591360

NM_000051.4(ATM):c.8585-2A>C

SNV
Germline

Chr11:108347277

Pathogenic

Ataxia-telangiectasia syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast
ATM-related cancer predisposition

Reviewed By Expert Panel

CA16613454

rs_1060501700

6 SubmittersRCV000462876 RCV000482474 RCV001018039 RCV002221539 RCV005638494

NM_000051.4(ATM):c.9042A>G (p.Gln3014=)

SNV
Germline

Chr11:108365379

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA16613463

rs_1060504291

5 SubmittersRCV000460483 RCV000573290 RCV004591370 RCV004999499

NM_000051.4(ATM):c.7308-6T>C

SNV
Germline

Chr11:108330208

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA6266095

rs_574836628

2 SubmittersRCV000463372 RCV004591305

NM_000051.4(ATM):c.8122G>C (p.Asp2708His)

SNV
Germline

Chr11:108335080

Likely pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA16613497

rs_587782719

3 SubmittersRCV000457844 RCV002418373 RCV005049557

NM_000051.4(ATM):c.8418+2T>C

SNV
Germline

Chr11:108343373

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA16613510

rs_1060501713

4 SubmittersRCV000462857 RCV000494154 RCV004022663 RCV004999447

NM_000051.4(ATM):c.8672-3T>C

SNV
Germline

Chr11:108353763

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Condition: not provided
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA16613518

rs_1060501550

4 SubmittersRCV000457502 RCV004999442 RCV004591299

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.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.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.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.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.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.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.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.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.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.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_020937.4(FANCM):c.5101C>T (p.Gln1701Ter)

SNV
Germline

Chr14:45189123

Pathogenic/Likely pathogenic

Fanconi anemia
Condition: not provided
Premature ovarian failure 15
Spermatogenic failure 28
Fanconi anemia complementation group A
Familial cancer of breast
Male infertility with spermatogenesis disorder
Spermatogenic failure 28
Premature ovarian failure 15
FANCM-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA7169906

rs_147021911

15 SubmittersRCV000456962 RCV000585292 RCV000678209 RCV000677276 RCV000989212 RCV001250424 RCV003991578 RCV005010382 RCV004737537

NM_024675.4(PALB2):c.3508C>A (p.His1170Asn)

SNV
Germline

Chr16:23603512

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA16614807

rs_200283306

3 SubmittersRCV000459786 RCV001192088

NM_024675.4(PALB2):c.3035C>T (p.Thr1012Ile)

SNV
Germline

Chr16:23621440

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA7963444

rs_761032954

13 SubmittersRCV000475841 RCV000479556 RCV000575045 RCV005018786 RCV006452653

NM_024675.4(PALB2):c.2940C>T (p.Ser980=)

SNV
Germline

Chr16:23623025

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA7963464

rs_766049739

7 SubmittersRCV000461224 RCV000580627 RCV001712437 RCV005355903

NM_024675.4(PALB2):c.2834+3A>G

SNV
Germline

Chr16:23624006

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA16614824

rs_1060502766

2 SubmittersRCV000474406 RCV001016728

NM_024675.4(PALB2):c.1553C>G (p.Ser518Ter)

SNV
Germline

Chr16:23634993

Pathogenic/Likely pathogenic

Familial cancer of breast
Hereditary cancer-predisposing syndrome
PALB2-related disorder
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA16614852

rs_1060502805

6 SubmittersRCV000469612 RCV001012094 RCV004529598 RCV005632409

NM_024675.4(PALB2):c.2749-1G>C

SNV
Germline

Chr16:23624095

Likely pathogenic

Familial cancer of breast
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA16614853

rs_1060502804

3 SubmittersRCV000461242 RCV002509392 RCV005452993

NM_024675.4(PALB2):c.1537A>G (p.Thr513Ala)

SNV
Germline

Chr16:23635009

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
Carcinoma of colon
Fanconi anemia complementation group N
Pancreatic cancer, susceptibility to, 3
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA16614855

rs_1060502741

7 SubmittersRCV000474363 RCV000575626 RCV000587874 RCV001030235 RCV002480416

NM_024675.4(PALB2):c.2730T>A (p.Tyr910Ter)

SNV
Germline

Chr16:23626254

Pathogenic/Likely pathogenic

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
Fanconi anemia complementation group N
Pancreatic cancer, susceptibility to, 3
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA16614856

rs_995629797

9 SubmittersRCV000459119 RCV000568217 RCV000657580 RCV002489062

NM_024675.4(PALB2):c.2677G>T (p.Asp893Tyr)

SNV
Germline

Chr16:23626307

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 5
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7963508

rs_765077104

8 SubmittersRCV000457988 RCV001016287 RCV003991027 RCV005243235

NM_024675.4(PALB2):c.1383T>A (p.Ser461Arg)

SNV
Germline

Chr16:23635163

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Fanconi anemia complementation group N
Pancreatic cancer, susceptibility to, 3
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA7963711

rs_768482110

8 SubmittersRCV000470251 RCV000568070 RCV000679760 RCV000781681 RCV002481444

NM_024675.4(PALB2):c.1084C>G (p.Leu362Val)

SNV
Germline

Chr16:23635462

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA16614861

rs_1060502758

2 SubmittersRCV000475695 RCV000572723

NM_024675.4(PALB2):c.880A>G (p.Lys294Glu)

SNV
Germline

Chr16:23635666

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7963750

rs_753676934

5 SubmittersRCV000468876 RCV000574047 RCV002223850

NM_024675.4(PALB2):c.2514+8C>T

SNV
Germline

Chr16:23629632

Conflicting classifications of pathogenicity

Familial cancer of breast
PALB2-related disorder
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA16614865

rs_1060504706

5 SubmittersRCV000470502 RCV004740248 RCV004017633 RCV006260047

NM_024675.4(PALB2):c.2389C>A (p.Gln797Lys)

SNV
Germline

Chr16:23629765

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA16614866

rs_1060502768

5 SubmittersRCV000476517 RCV000567346 RCV003318580

NM_024675.4(PALB2):c.2188A>G (p.Ile730Val)

SNV
Germline

Chr16:23629966

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA16614873

rs_1060502735

8 SubmittersRCV000479293 RCV000468216 RCV000563382 RCV001354437 RCV001199879

NM_024675.4(PALB2):c.304G>A (p.Val102Ile)

SNV
Germline

Chr16:23636242

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7963803

rs_778573607

6 SubmittersRCV000465446 RCV000562562 RCV003332178

NM_024675.4(PALB2):c.45A>G (p.Glu15=)

SNV
Germline

Chr16:23641113

Conflicting classifications of pathogenicity

Condition: not provided
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Familial pancreatic carcinoma

Criteria Provided
Conflicting Classifications

CA16614880

rs_1060504718

6 SubmittersRCV000828254 RCV001085519 RCV003168912 RCV005355905

NM_024675.4(PALB2):c.1435C>T (p.Gln479Ter)

SNV
Germline

Chr16:23635111

Pathogenic

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA16614893

rs_1060502761

2 SubmittersRCV000463150 RCV001011563

NM_024675.4(PALB2):c.1217C>T (p.Ala406Val)

SNV
Germline

Chr16:23635329

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
Fanconi anemia complementation group N
Pancreatic cancer, susceptibility to, 3
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA16614898

rs_1060502757

9 SubmittersRCV000463216 RCV000569051 RCV001561387 RCV002481447

NM_024675.4(PALB2):c.1144A>C (p.Ser382Arg)

SNV
Germline

Chr16:23635402

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA16614900

rs_1060502737

3 SubmittersRCV000476970 RCV000775933

NM_004360.5(CDH1):c.1096A>G (p.Thr366Ala)

SNV
Germline

Chr16:68812222

Conflicting classifications of pathogenicity

Hereditary diffuse gastric adenocarcinoma
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA16614974

rs_1060501238

4 SubmittersRCV000456768 RCV000583142 RCV003463876

NM_000135.4(FANCA):c.3183C>T (p.Ser1061=)

SNV
Germline

Chr16:89749786

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group A
not specified
Condition: not provided
FANCA-related disorder
Inborn genetic diseases
Clear cell carcinoma of kidney
Familial cancer of breast
Thymoma

Criteria Provided
Conflicting Classifications

CA8251308

rs_1800346

11 SubmittersRCV000458962 RCV001276506 RCV001821345 RCV001764459 RCV003970325 RCV004975545 RCV005899541 RCV005899540 RCV005899542

NM_024675.4(PALB2):c.3391A>G (p.Ile1131Val)

SNV
Germline

Chr16:23603629

Conflicting classifications of pathogenicity

Familial cancer of breast
Condition: not provided
Hereditary cancer-predisposing syndrome
not specified
Breast-ovarian cancer, familial, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA7963344

rs_774517454

7 SubmittersRCV000456527 RCV000589068 RCV000771464 RCV004596198 RCV005355850

NM_024675.4(PALB2):c.3351-2A>G

SNV
Germline

Chr16:23603671

Pathogenic/Likely pathogenic

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA16615066

rs_1060502764

5 SubmittersRCV000466376 RCV001020064 RCV004721374

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.2835-3T>C

SNV
Germline

Chr16:23623133

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
not specified

Criteria Provided
Conflicting Classifications

CA16615078

rs_1060502795

4 SubmittersRCV000468775 RCV001016565 RCV004596199

NM_024675.4(PALB2):c.2711G>A (p.Trp904Ter)

SNV
Germline

Chr16:23626273

Pathogenic

Familial cancer of breast
Condition: not provided
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 5

Criteria Provided
Multiple Submitters
No Conflicts

CA16615083

rs_1060502726

7 SubmittersRCV000465081 RCV000522916 RCV000566729 RCV005355847

NM_024675.4(PALB2):c.2328C>A (p.Phe776Leu)

SNV
Germline

Chr16:23629826

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 5
Fanconi anemia complementation group N
Pancreatic cancer, susceptibility to, 3

Criteria Provided
Conflicting Classifications

CA16615088

rs_45508997

4 SubmittersRCV000469475 RCV004943901 RCV005398628

NM_024675.4(PALB2):c.2303G>C (p.Cys768Ser)

SNV
Germline

Chr16:23629851

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA16615091

rs_1060502770

3 SubmittersRCV000471672 RCV001015017

NM_024675.4(PALB2):c.1696C>T (p.Arg566Cys)

SNV
Germline

Chr16:23630458

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
Fanconi anemia complementation group N
Pancreatic cancer, susceptibility to, 3
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA7963668

rs_746582620

10 SubmittersRCV000461240 RCV000563652 RCV000586825 RCV002481446

NM_024675.4(PALB2):c.1366G>T (p.Glu456Ter)

SNV
Germline

Chr16:23635180

Pathogenic

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA16615101

rs_1060502785

4 SubmittersRCV000472293 RCV005692206

NM_024675.4(PALB2):c.1103A>G (p.Asn368Ser)

SNV
Germline

Chr16:23635443

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA16615103

rs_1060502799

4 SubmittersRCV000469658 RCV000563832 RCV003153633

NM_024675.4(PALB2):c.727A>C (p.Thr243Pro)

SNV
Germline

Chr16:23635819

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA16615106

rs_1060502747

4 SubmittersRCV000464943 RCV000567643 RCV001848813

NM_024675.4(PALB2):c.602G>A (p.Ser201Asn)

SNV
Germline

Chr16:23635944

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA16615115

rs_1060502790

2 SubmittersRCV000476599 RCV004943900

NM_024675.4(PALB2):c.206A>T (p.His69Leu)

SNV
Germline

Chr16:23637855

Conflicting classifications of pathogenicity

Familial cancer of breast
Condition: not provided
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 5
Fanconi anemia complementation group N
Pancreatic cancer, susceptibility to, 3

Criteria Provided
Conflicting Classifications

CA16615126

rs_749443090

8 SubmittersRCV000476673 RCV000485056 RCV000569594 RCV005018787

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_004360.5(CDH1):c.532-1G>C

SNV
Germline

Chr16:68808692

Pathogenic

Hereditary diffuse gastric adenocarcinoma
Hereditary cancer-predisposing syndrome
Condition: not provided
CDH1-related diffuse gastric and lobular breast cancer syndrome
Familial cancer of breast

Reviewed By Expert Panel

CA8129891

rs_771085839

9 SubmittersRCV000465136 RCV001023925 RCV001782937 RCV003328346 RCV003476031

NM_024675.4(PALB2):c.2725C>G (p.Leu909Val)

SNV
Germline

Chr16:23626259

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA16615221

rs_1060502739

3 SubmittersRCV000463483 RCV000572861

NM_024675.4(PALB2):c.2587-2A>C

SNV
Germline

Chr16:23626399

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA16615225

rs_1060502787

3 SubmittersRCV000460478 RCV002429521

NM_024675.4(PALB2):c.2438T>C (p.Ile813Thr)

SNV
Germline

Chr16:23629716

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
PALB2-related disorder

Criteria Provided
Conflicting Classifications

CA7963573

rs_763191051

9 SubmittersRCV000476976 RCV000564912 RCV000588415 RCV004533194

NM_024675.4(PALB2):c.2375C>G (p.Ser792Ter)

SNV
Germline

Chr16:23629779

Pathogenic/Likely pathogenic

Familial cancer of breast
Fanconi anemia complementation group N
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA16615240

rs_1060502748

5 SubmittersRCV000457054 RCV001813781 RCV004649161

NM_024675.4(PALB2):c.1492G>A (p.Asp498Asn)

SNV
Germline

Chr16:23635054

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Pancreatic cancer, susceptibility to, 3
Fanconi anemia complementation group N
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA16615265

rs_75023630

5 SubmittersRCV000466463 RCV000572623 RCV002496776

NM_024675.4(PALB2):c.1343G>A (p.Ser448Asn)

SNV
Germline

Chr16:23635203

Conflicting classifications of pathogenicity

Familial cancer of breast
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA16615266

rs_956172059

5 SubmittersRCV000464002 RCV000486431 RCV000564122

NM_024675.4(PALB2):c.1213C>G (p.Pro405Ala)

SNV
Germline

Chr16:23635333

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Ovarian cancer
Breast and/or ovarian cancer
PALB2-related disorder
Breast-ovarian cancer, familial, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA7963723

rs_545119348

9 SubmittersRCV000456874 RCV000561159 RCV003153632 RCV003492059 RCV004529596 RCV005355849

NM_024675.4(PALB2):c.1048C>T (p.Gln350Ter)

SNV
Germline

Chr16:23635498

Pathogenic

Familial cancer of breast
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA16615273

rs_1060502788

5 SubmittersRCV000476491 RCV000520926 RCV002402280

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_024675.4(PALB2):c.510A>C (p.Arg170Ser)

SNV
Germline

Chr16:23636036

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group N
Condition: not provided

Criteria Provided
Conflicting Classifications

CA16615302

rs_1060502796

5 SubmittersRCV000474642 RCV000571001 RCV001294231 RCV003477982

NM_004360.5(CDH1):c.49-2A>G

SNV
Germline

Chr16:68738295

Pathogenic

Hereditary diffuse gastric adenocarcinoma
Hereditary cancer-predisposing syndrome
Familial cancer of breast
CDH1-related diffuse gastric and lobular breast cancer syndrome

Reviewed By Expert Panel

CA16615353

rs_1060501226

8 SubmittersRCV000462976 RCV002339140 RCV003476030 RCV003328344

NM_004360.5(CDH1):c.172G>A (p.Glu58Lys)

SNV
Germline

Chr16:68801678

Conflicting classifications of pathogenicity

Hereditary diffuse gastric adenocarcinoma
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA16615359

rs_1060501234

5 SubmittersRCV000460113 RCV000572545 RCV002510895 RCV004567975

NM_004360.5(CDH1):c.199G>A (p.Ala67Thr)

SNV
Germline

Chr16:68801705

Conflicting classifications of pathogenicity

Hereditary diffuse gastric adenocarcinoma
Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast
not specified

Criteria Provided
Conflicting Classifications

CA16615361

rs_1060501247

9 SubmittersRCV000465459 RCV000479101 RCV000574938 RCV003463877 RCV006458371

NM_004360.5(CDH1):c.2195G>A (p.Arg732Gln)

SNV
Germline

Chr16:68828204

Pathogenic

Hereditary diffuse gastric adenocarcinoma
Hereditary cancer-predisposing syndrome
Condition: not provided
CDH1-related diffuse gastric and lobular breast cancer syndrome
Familial cancer of breast

Reviewed By Expert Panel

CA16615410

rs_1060501244

12 SubmittersRCV000475163 RCV000492116 RCV001090443 RCV003328350 RCV005899446

NM_032043.3(BRIP1):c.3070G>A (p.Gly1024Arg)

SNV
Germline

Chr17:61683976

Conflicting classifications of pathogenicity

Familial cancer of breast
Fanconi anemia complementation group J
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Fanconi anemia complementation group J
Ovarian cancer
Familial ovarian cancer

Criteria Provided
Conflicting Classifications

CA8690405

rs_147119272

7 SubmittersRCV000457812 RCV000570958 RCV003316562 RCV004999449 RCV005430355 RCV005600925

NM_032043.3(BRIP1):c.1495C>T (p.Gln499Ter)

SNV
Germline

Chr17:61784403

Pathogenic/Likely pathogenic

Familial cancer of breast
Fanconi anemia complementation group J
Familial cancer of breast
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA16615495

rs_1060501739

4 SubmittersRCV000473198 RCV003335329 RCV004722776

NM_032043.3(BRIP1):c.1629-1G>T

SNV
Germline

Chr17:61781006

Likely pathogenic

Familial cancer of breast
Fanconi anemia complementation group J
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA16615513

rs_1060501757

3 SubmittersRCV000468302 RCV002402250 RCV003335332

NM_032043.3(BRIP1):c.1187A>G (p.His396Arg)

SNV
Germline

Chr17:61799253

Conflicting classifications of pathogenicity

Fanconi anemia complementation group J
Familial cancer of breast
Condition: not provided
Hereditary cancer-predisposing syndrome
Malignant tumor of breast
Familial cancer of breast
not specified

Criteria Provided
Conflicting Classifications

CA16615514

rs_996493095

8 SubmittersRCV000456902 RCV000483663 RCV000568743 RCV001354996 RCV003463900 RCV005899465

NM_032043.3(BRIP1):c.1018C>T (p.Leu340Phe)

SNV
Germline

Chr17:61801375

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA8690816

rs_755796609

10 SubmittersRCV000462189 RCV000563667 RCV001124866 RCV001194724 RCV001584150 RCV003463896 RCV004533180 RCV005600926

NM_032043.3(BRIP1):c.627+7A>G

SNV
Germline

Chr17:61847094

Conflicting classifications of pathogenicity

Familial cancer of breast
Fanconi anemia complementation group J
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA16615518

rs_1060504334

4 SubmittersRCV000464177 RCV000581250 RCV004787760

NM_032043.3(BRIP1):c.672A>G (p.Gly224=)

SNV
Germline

Chr17:61808713

Conflicting classifications of pathogenicity

Familial cancer of breast
Fanconi anemia complementation group J
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA8690863

rs_752356873

8 SubmittersRCV000466277 RCV000562768 RCV000615685 RCV001721521 RCV004791482

NM_032043.3(BRIP1):c.553G>A (p.Ala185Thr)

SNV
Germline

Chr17:61847175

Conflicting classifications of pathogenicity

Familial cancer of breast
Fanconi anemia complementation group J
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA8690910

rs_745645356

5 SubmittersRCV000471201 RCV000581355 RCV001775807 RCV005355827

NM_032043.3(BRIP1):c.226G>A (p.Val76Ile)

SNV
Germline

Chr17:61857211

Conflicting classifications of pathogenicity

Familial cancer of breast
Fanconi anemia complementation group J
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA16615534

rs_769573395

5 SubmittersRCV000473938 RCV000562576 RCV002056711

NM_032043.3(BRIP1):c.661A>G (p.Thr221Ala)

SNV
Germline

Chr17:61808724

Conflicting classifications of pathogenicity

Familial cancer of breast
Fanconi anemia complementation group J
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA8690865

rs_777618772

6 SubmittersRCV000457055 RCV000563866 RCV001284463 RCV003463897

NM_032043.3(BRIP1):c.499A>G (p.Thr167Ala)

SNV
Germline

Chr17:61849137

Conflicting classifications of pathogenicity

Familial cancer of breast
Fanconi anemia complementation group J
Hereditary cancer-predisposing syndrome
Familial ovarian cancer

Criteria Provided
Conflicting Classifications

CA16615545

rs_1060501738

3 SubmittersRCV000466657 RCV001023382 RCV005365316

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_032043.3(BRIP1):c.3191T>C (p.Phe1064Ser)

SNV
Germline

Chr17:61683855

Conflicting classifications of pathogenicity

Familial cancer of breast
Fanconi anemia complementation group J
Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA16615764

rs_916937983

6 SubmittersRCV000475646 RCV000573965 RCV000709529 RCV001556168

NM_032043.3(BRIP1):c.2705T>C (p.Ile902Thr)

SNV
Germline

Chr17:61686036

Conflicting classifications of pathogenicity

Familial cancer of breast
Fanconi anemia complementation group J
not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial ovarian cancer

Criteria Provided
Conflicting Classifications

CA16615780

rs_1060501781

7 SubmittersRCV000465302 RCV000589053 RCV000773139 RCV001563320 RCV005600927

NM_032043.3(BRIP1):c.2262A>T (p.Gly754=)

SNV
Germline

Chr17:61743130

Conflicting classifications of pathogenicity

Familial cancer of breast
Fanconi anemia complementation group J
Hereditary cancer-predisposing syndrome
BRIP1-related disorder
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA16615795

rs_1060504324

6 SubmittersRCV000463846 RCV001014974 RCV004732893 RCV004787745

NM_032043.3(BRIP1):c.3328G>T (p.Glu1110Ter)

SNV
Germline

Chr17:61683718

Conflicting classifications of pathogenicity

Familial cancer of breast
Fanconi anemia complementation group J
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA16615821

rs_1060501774

3 SubmittersRCV000465286 RCV000775737

NM_032043.3(BRIP1):c.270C>A (p.Cys90Ter)

SNV
Germline

Chr17:61857167

Pathogenic

Familial cancer of breast
Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA16615839

rs_1060501740

3 SubmittersRCV000460420 RCV003335330

NM_032043.3(BRIP1):c.1644T>C (p.Tyr548=)

SNV
Germline

Chr17:61780990

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA8690693

rs_372760869

7 SubmittersRCV000464059 RCV001012515 RCV001432732 RCV004787755

NM_032043.3(BRIP1):c.653G>A (p.Cys218Tyr)

SNV
Germline

Chr17:61808732

Conflicting classifications of pathogenicity

Familial cancer of breast
Fanconi anemia complementation group J
Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA8690866

rs_754242563

7 SubmittersRCV000461921 RCV000479866 RCV000580267 RCV003315428

NM_032043.3(BRIP1):c.205+2T>G

SNV
Germline

Chr17:61859794

Likely pathogenic

Familial cancer of breast
Fanconi anemia complementation group J

Criteria Provided
Single Submitter

CA16615868

rs_1060501763

1 SubmittersRCV000460534

NM_007194.4(CHEK2):c.1462-1G>A

SNV
Germline

Chr22:28689216

Pathogenic/Likely pathogenic

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Thymoma

Criteria Provided
Multiple Submitters
No Conflicts

CA16616300

rs_1060502698

5 SubmittersRCV000474737 RCV000773145 RCV005899485

NM_007194.4(CHEK2):c.1461+5G>A

SNV
Germline

Chr22:28694027

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
CHEK2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA16616302

rs_769841229

7 SubmittersRCV000468962 RCV000561946 RCV003444238

NM_007194.4(CHEK2):c.1376-1G>C

SNV
Germline

Chr22:28694118

Likely pathogenic

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA16616311

rs_876659287

4 SubmittersRCV000456304 RCV000572752

NM_007194.4(CHEK2):c.1196T>A (p.Val399Asp)

SNV
Germline

Chr22:28695773

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colon cancer

Criteria Provided
Conflicting Classifications

CA10167712

rs_527878975

5 SubmittersRCV000462827 RCV000573606 RCV004999467 RCV005355846

NM_007194.4(CHEK2):c.779C>A (p.Ser260Ter)

SNV
Germline

Chr22:28711922

Pathogenic

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA16616334

rs_1060502710

2 SubmittersRCV000460369 RCV004609388

NM_007194.4(CHEK2):c.645A>G (p.Ala215=)

SNV
Germline

Chr22:28719433

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA10167926

rs_761630560

4 SubmittersRCV000777675 RCV001481778

NM_007194.4(CHEK2):c.688G>C (p.Ala230Pro)

SNV
Germline

Chr22:28712013

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
CHEK2-related cancer predisposition
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA10167900

rs_748636216

9 SubmittersRCV000465132 RCV000568008 RCV001555558 RCV004595507 RCV005623329

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.444+6T>C

SNV
Germline

Chr22:28725237

Conflicting classifications of pathogenicity

Familial cancer of breast
Condition: not provided
not specified
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA16616354

rs_1060502720

4 SubmittersRCV000462929 RCV000482912 RCV001174668 RCV003584612

NM_000268.4(NF2):c.1446G>A (p.Pro482=)

SNV
Germline

Chr22:29674941

Conflicting classifications of pathogenicity

Neurofibromatosis, type 2
Hereditary cancer-predisposing syndrome
Familial meningioma
Condition: not provided
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA031490

rs_753751373

7 SubmittersRCV000460735 RCV002393165 RCV003470520 RCV004691779 RCV005899506

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_007194.4(CHEK2):c.683+9T>C

SNV
Germline

Chr22:28719386

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA16616565

rs_1060504691

7 SubmittersRCV000471802 RCV000583421 RCV000781306 RCV001613311

NM_007194.4(CHEK2):c.1542+3A>G

SNV
Germline

Chr22:28689132

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA16616566

rs_1060502722

7 SubmittersRCV000472776 RCV000568643 RCV000587215

NM_007194.4(CHEK2):c.1503G>A (p.Glu501=)

SNV
Germline

Chr22:28689174

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA16616568

rs_1060502721

5 SubmittersRCV000469899 RCV000581834 RCV000997889

NM_007194.4(CHEK2):c.643G>A (p.Ala215Thr)

SNV
Germline

Chr22:28719435

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA16616569

rs_1060502708

3 SubmittersRCV000475949 RCV002257724

NM_007194.4(CHEK2):c.1259+1G>T

SNV
Germline

Chr22:28695709

Likely pathogenic

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA16616580

rs_121908707

3 SubmittersRCV000465281 RCV006386847

NM_007194.4(CHEK2):c.1096-1G>A

SNV
Germline

Chr22:28695874

Pathogenic/Likely pathogenic

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
Gastric cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA16616582

rs_1060502716

6 SubmittersRCV000464247 RCV000565790 RCV001782952 RCV005899486

NM_001625.4(AK2):c.219+19A>G

SNV
Germline

Chr1:33024423

Conflicting classifications of pathogenicity

Condition: not provided
Reticular dysgenesis
Familial cancer of breast
Acute myeloid leukemia
Cervical cancer
Ovarian serous cystadenocarcinoma
Lung cancer
not specified
Uveal melanoma
Gastric cancer

Criteria Provided
Conflicting Classifications

CA747227

rs_148975919

4 SubmittersRCV000483208 RCV001520137 RCV005899621 RCV005899622 RCV005899623 RCV005899626 RCV005899627 RCV006458393 RCV005899624 RCV005899625

NM_001048174.2(MUTYH):c.469C>T (p.Arg157Trp)

SNV
Germline

Chr1:45332786

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 2
Familial cancer of breast
Breast carcinoma
Familial adenomatous polyposis 2
Gastric cancer

Criteria Provided
Conflicting Classifications

CA058212

rs_750592289

11 SubmittersRCV000478161 RCV000562580 RCV000803247 RCV001004834 RCV001643192 RCV005398688

NM_000465.4(BARD1):c.2271G>T (p.Lys757Asn)

SNV
Germline

Chr2:214728739

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA16617423

rs_1064796724

5 SubmittersRCV000480775 RCV000565929 RCV000687560

NM_000465.4(BARD1):c.2233T>G (p.Tyr745Asp)

SNV
Germline

Chr2:214728777

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA2090058

rs_771109295

6 SubmittersRCV000480804 RCV000562199 RCV000544437

NM_000465.4(BARD1):c.2226G>C (p.Leu742Phe)

SNV
Germline

Chr2:214728784

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast
not specified

Criteria Provided
Conflicting Classifications

CA16617424

rs_1064793606

5 SubmittersRCV000479587 RCV000575647 RCV000687817 RCV001821393

NM_000465.4(BARD1):c.2153A>G (p.Asn718Ser)

SNV
Germline

Chr2:214728857

Conflicting classifications of pathogenicity

Condition: not provided
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA2090072

rs_773166130

5 SubmittersRCV000483694 RCV000541644 RCV001184243

NM_000465.4(BARD1):c.1904-17T>A

SNV
Germline

Chr2:214730525

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA16617432

rs_1064795448

3 SubmittersRCV000480749 RCV000771168 RCV002063785

NM_000465.4(BARD1):c.1792A>G (p.Thr598Ala)

SNV
Germline

Chr2:214745740

Conflicting classifications of pathogenicity

Condition: not provided
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA2090172

rs_752628149

5 SubmittersRCV000487241 RCV000635933 RCV001013188

NM_000465.4(BARD1):c.1644G>A (p.Lys548=)

SNV
Germline

Chr2:214752480

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA16617434

rs_1064796411

3 SubmittersRCV000587041 RCV000855610 RCV004787791

NM_000465.4(BARD1):c.1393T>C (p.Leu465=)

SNV
Germline

Chr2:214769234

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA2090272

rs_779653364

5 SubmittersRCV000479695 RCV000772625 RCV001419932

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_000465.4(BARD1):c.216-8T>C

SNV
Germline

Chr2:214792453

Conflicting classifications of pathogenicity

Condition: not provided
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA16617456

rs_1064795148

4 SubmittersRCV000484406 RCV001232938 RCV003584629

NM_000051.4(ATM):c.229A>G (p.Ile77Val)

SNV
Germline

Chr11:108229221

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA16619096

rs_1064796032

5 SubmittersRCV000487019 RCV000571021 RCV000812838 RCV003470581

NM_000051.4(ATM):c.538C>A (p.Gln180Lys)

SNV
Germline

Chr11:108243994

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6264628

rs_730881333

7 SubmittersRCV000479337 RCV000555249 RCV000772112 RCV003463986

NM_000051.4(ATM):c.902-1G>T

SNV
Germline

Chr11:108246963

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA16619104

rs_1064793518

10 SubmittersRCV000478968 RCV000493667 RCV000685477 RCV002289623

NM_000051.4(ATM):c.1165A>G (p.Ile389Val)

SNV
Germline

Chr11:108249032

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA16619108

rs_1060501704

4 SubmittersRCV000479676 RCV000628025 RCV002323837 RCV004568198

NM_000051.4(ATM):c.1208C>A (p.Ser403Ter)

SNV
Germline

Chr11:108249075

Pathogenic/Likely pathogenic

Condition: not provided
Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Malignant tumor of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA16619109

rs_747563556

7 SubmittersRCV000486612 RCV000804410 RCV001010287 RCV003463998 RCV004586730

NM_000051.4(ATM):c.1236-2A>G

SNV
Germline

Chr11:108250699

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA16619112

rs_80159221

9 SubmittersRCV000483797 RCV000537165 RCV000771771 RCV003470541 RCV005044713

NM_000051.4(ATM):c.1295T>A (p.Leu432Gln)

SNV
Germline

Chr11:108250760

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6264797

rs_546621356

8 SubmittersRCV000483830 RCV000628034 RCV000579774 RCV003470585

NM_000051.4(ATM):c.1505C>G (p.Ala502Gly)

SNV
Germline

Chr11:108250970

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6264821

rs_766595156

8 SubmittersRCV000483795 RCV000566039 RCV000688771 RCV004568204

NM_000051.4(ATM):c.1905C>T (p.His635=)

SNV
Germline

Chr11:108253820

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA16619129

rs_1020808836

7 SubmittersRCV000478597 RCV000575131 RCV001475097 RCV002307518 RCV004591427

NM_000051.4(ATM):c.2125-4T>C

SNV
Germline

Chr11:108256211

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA16619133

rs_1064795623

5 SubmittersRCV000480304 RCV000567682 RCV001042707 RCV004591429

NM_000051.4(ATM):c.2466+5G>C

SNV
Germline

Chr11:108259080

Likely pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast
ATM-related cancer predisposition

Reviewed By Expert Panel

CA16619140

rs_1064795969

7 SubmittersRCV000486136 RCV000580666 RCV000800097 RCV005044729 RCV006252453

NM_000051.4(ATM):c.2553T>G (p.Asp851Glu)

SNV
Germline

Chr11:108267257

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA16619142

rs_1064793513

5 SubmittersRCV000483479 RCV000569986 RCV000821523 RCV003470538

NM_000051.4(ATM):c.2561C>A (p.Ser854Tyr)

SNV
Germline

Chr11:108267265

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
not specified
Familial cancer of breast
Familial colorectal cancer type X

Criteria Provided
Conflicting Classifications

CA6265060

rs_778123895

8 SubmittersRCV000478056 RCV000574598 RCV000706877 RCV003387855 RCV003470560 RCV005355945

NM_000051.4(ATM):c.5156A>G (p.Asn1719Ser)

SNV
Germline

Chr11:108299864

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6265636

rs_183531638

9 SubmittersRCV000485988 RCV000546123 RCV000565111 RCV002481518 RCV003470569

NM_000051.4(ATM):c.5697C>A (p.Cys1899Ter)

SNV
Germline

Chr11:108307919

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA6265759

rs_753839301

6 SubmittersRCV000478233 RCV001045999 RCV002350067 RCV004023152 RCV005044723

NM_000051.4(ATM):c.6188G>A (p.Gly2063Glu)

SNV
Germline

Chr11:108316103

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA16619209

rs_866290641

4 SubmittersRCV000484938 RCV001378077 RCV004023133 RCV003470551

NM_000051.4(ATM):c.6573-11G>A

SNV
Germline

Chr11:108325299

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6265985

rs_375599653

6 SubmittersRCV000479451 RCV000771923 RCV002063710 RCV004591419 RCV005398690

NM_000051.4(ATM):c.7630-2A>G

SNV
Germline

Chr11:108331877

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA16619236

rs_587779866

6 SubmittersRCV000484828 RCV000493469 RCV000525719 RCV004023156

NM_000051.4(ATM):c.8032G>A (p.Gly2678Arg)

SNV
Germline

Chr11:108334990

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6266267

rs_766730487

6 SubmittersRCV000484889 RCV000557756 RCV000567730 RCV002222523 RCV004568159

NM_000051.4(ATM):c.8140C>T (p.Gln2714Ter)

SNV
Germline

Chr11:108335098

Pathogenic

Condition: not provided
Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Gastric cancer
Breast and/or ovarian cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA16619247

rs_1060501695

11 SubmittersRCV000480590 RCV000627965 RCV001027217 RCV003155945 RCV003168944 RCV003492069

NM_000051.4(ATM):c.8149A>T (p.Lys2717Ter)

SNV
Germline

Chr11:108335107

Pathogenic/Likely pathogenic

Condition: not provided
Familial cancer of breast
Ataxia-telangiectasia syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA16619248

rs_774334667

4 SubmittersRCV000483856 RCV003464023 RCV003500539

NM_000051.4(ATM):c.8187A>G (p.Gln2729=)

SNV
Germline

Chr11:108335880

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA16619249

rs_587781946

7 SubmittersRCV000486743 RCV000799140 RCV001027254 RCV004591415

NM_000051.4(ATM):c.8268+1G>A

SNV
Germline

Chr11:108335962

Likely pathogenic

Condition: not provided
Familial cancer of breast
Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
ATM-related cancer predisposition

Reviewed By Expert Panel

CA16619252

rs_876658957

6 SubmittersRCV000479755 RCV001310098 RCV001377037 RCV002431404 RCV005638496

NM_000051.4(ATM):c.8314G>A (p.Gly2772Arg)

SNV
Germline

Chr11:108343267

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA16619256

rs_1064794239

8 SubmittersRCV000486226 RCV000565973 RCV000670258 RCV004568173

NM_000051.4(ATM):c.8373C>A (p.Tyr2791Ter)

SNV
Germline

Chr11:108343326

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA16619258

rs_1060504292

9 SubmittersRCV000479411 RCV000533131 RCV001177309 RCV003470552

NM_000051.4(ATM):c.8486C>T (p.Pro2829Leu)

SNV
Germline

Chr11:108345810

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA16619259

rs_938431501

6 SubmittersRCV000480686 RCV000566971 RCV000792087 RCV005421929

NM_000051.4(ATM):c.8631G>A (p.Leu2877=)

SNV
Germline

Chr11:108347325

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA16619264

rs_1064794840

5 SubmittersRCV000478997 RCV002446930 RCV003605625 RCV004591425

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.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.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.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.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.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_024675.4(PALB2):c.3421G>A (p.Asp1141Asn)

SNV
Germline

Chr16:23603599

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA16620112

rs_1064795975

3 SubmittersRCV000480747 RCV004943925 RCV002525917

NM_024675.4(PALB2):c.3122A>C (p.Lys1041Thr)

SNV
Germline

Chr16:23614083

Conflicting classifications of pathogenicity

Condition: not provided
Familial cancer of breast
Hereditary cancer-predisposing syndrome
not specified

Criteria Provided
Conflicting Classifications

CA7963418

rs_781663559

7 SubmittersRCV000478421 RCV000635632 RCV000708730 RCV006273828

NM_024675.4(PALB2):c.3114-6T>C

SNV
Germline

Chr16:23614097

Conflicting classifications of pathogenicity

Condition: not provided
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA16620116

rs_1064794886

3 SubmittersRCV000482960 RCV001078733

NM_024675.4(PALB2):c.3054G>T (p.Glu1018Asp)

SNV
Germline

Chr16:23621421

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Pancreatic cancer, susceptibility to, 3
not specified

Criteria Provided
Conflicting Classifications

CA16620118

rs_183489969

7 SubmittersRCV000481068 RCV000561822 RCV000694700 RCV001030372 RCV002268123

NM_024675.4(PALB2):c.2875G>T (p.Val959Leu)

SNV
Germline

Chr16:23623090

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA16620123

rs_1064793658

4 SubmittersRCV000484497 RCV000562675 RCV001865437

NM_024675.4(PALB2):c.2836G>A (p.Ala946Thr)

SNV
Germline

Chr16:23623129

Conflicting classifications of pathogenicity

Condition: not provided
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA16620124

rs_878855113

3 SubmittersRCV000484044 RCV001305631 RCV004943923

NM_024675.4(PALB2):c.2614G>A (p.Val872Met)

SNV
Germline

Chr16:23626370

Conflicting classifications of pathogenicity

Condition: not provided
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA16620129

rs_1064793628

4 SubmittersRCV000484695 RCV000696384 RCV004659056

NM_024675.4(PALB2):c.2422G>A (p.Gly808Arg)

SNV
Germline

Chr16:23629732

Conflicting classifications of pathogenicity

Condition: not provided
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA16620133

rs_1064795507

5 SubmittersRCV000486954 RCV000698122 RCV000775954

NM_024675.4(PALB2):c.2411C>T (p.Ser804Phe)

SNV
Germline

Chr16:23629743

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group N
Familial cancer of breast
Pancreatic cancer, susceptibility to, 3

Criteria Provided
Conflicting Classifications

CA7963582

rs_149836639

7 SubmittersRCV000481392 RCV000581656 RCV000635655 RCV002475930

NM_024675.4(PALB2):c.2340C>T (p.Gly780=)

SNV
Germline

Chr16:23629814

Conflicting classifications of pathogenicity

Condition: not provided
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA16620134

rs_1064794853

4 SubmittersRCV000485867 RCV000814645 RCV004943920

NM_024675.4(PALB2):c.2326T>C (p.Phe776Leu)

SNV
Germline

Chr16:23629828

Conflicting classifications of pathogenicity

Condition: not provided
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA7963593

rs_764925691

7 SubmittersRCV000486202 RCV000662841 RCV001015195

NM_024675.4(PALB2):c.1600T>G (p.Ser534Ala)

SNV
Germline

Chr16:23634946

Conflicting classifications of pathogenicity

Condition: not provided
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Chordoma

Criteria Provided
Conflicting Classifications

CA16620143

rs_1064793824

5 SubmittersRCV000484915 RCV000689372 RCV001012375 RCV002266967

NM_024675.4(PALB2):c.1491T>G (p.Asn497Lys)

SNV
Germline

Chr16:23635055

Conflicting classifications of pathogenicity

Condition: not provided
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA7963703

rs_374707677

3 SubmittersRCV000486048 RCV000635954 RCV001011852

NM_024675.4(PALB2):c.1463G>C (p.Ser488Thr)

SNV
Germline

Chr16:23635083

Conflicting classifications of pathogenicity

Condition: not provided
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA16620145

rs_767926590

5 SubmittersRCV000486572 RCV000538747 RCV002395159 RCV003315431

NM_024675.4(PALB2):c.1337A>G (p.Asp446Gly)

SNV
Germline

Chr16:23635209

Conflicting classifications of pathogenicity

Condition: not provided
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA7963717

rs_146434474

4 SubmittersRCV000478568 RCV000798423 RCV001010834

NM_024675.4(PALB2):c.1179A>G (p.Lys393=)

SNV
Germline

Chr16:23635367

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA16620151

rs_976340416

5 SubmittersRCV000480231 RCV000567685 RCV001396731

NM_024675.4(PALB2):c.769G>C (p.Gly257Arg)

SNV
Germline

Chr16:23635777

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA16620155

rs_587780824

3 SubmittersRCV000485497 RCV002402401 RCV003607293

NM_024675.4(PALB2):c.742G>C (p.Val248Leu)

SNV
Germline

Chr16:23635804

Conflicting classifications of pathogenicity

Condition: not provided
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA16620157

rs_572102702

4 SubmittersRCV000478004 RCV000635771 RCV002383910 RCV005355924

NM_024675.4(PALB2):c.108+9A>G

SNV
Germline

Chr16:23638061

Conflicting classifications of pathogenicity

Condition: not provided
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA16620164

rs_1064795783

2 SubmittersRCV000482406 RCV001495481

NM_024675.4(PALB2):c.20A>G (p.Lys7Arg)

SNV
Germline

Chr16:23641138

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast
not specified
PALB2-related disorder

Criteria Provided
Conflicting Classifications

CA16620166

rs_947155109

10 SubmittersRCV000483460 RCV000571040 RCV000702590 RCV003226305 RCV004527591

NM_004360.5(CDH1):c.107G>A (p.Ser36Asn)

SNV
Germline

Chr16:68738355

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary diffuse gastric adenocarcinoma
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA16620231

rs_1064794682

5 SubmittersRCV000479808 RCV001373026 RCV001805100 RCV003464012

NM_004360.5(CDH1):c.602C>G (p.Pro201Arg)

SNV
Germline

Chr16:68808763

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary diffuse gastric adenocarcinoma
CDH1-related disorder
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA8129897

rs_146777134

7 SubmittersRCV000484451 RCV000571741 RCV000639285 RCV003419812 RCV003464031

NM_004360.5(CDH1):c.1202C>A (p.Ala401Asp)

SNV
Germline

Chr16:68813377

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary diffuse gastric adenocarcinoma
CDH1-related disorder
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA8130021

rs_150795245

7 SubmittersRCV000486692 RCV000566539 RCV000639286 RCV003419813 RCV003464032

NM_004360.5(CDH1):c.1202C>T (p.Ala401Val)

SNV
Germline

Chr16:68813377

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary diffuse gastric adenocarcinoma
Hereditary cancer-predisposing syndrome
not specified
Hereditary diffuse gastric adenocarcinoma
Familial cancer of breast
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA8130020

rs_150795245

8 SubmittersRCV000478784 RCV000528041 RCV000569272 RCV000781218 RCV003483633 RCV003463989

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.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.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_032043.3(BRIP1):c.3371A>G (p.Glu1124Gly)

SNV
Germline

Chr17:61683675

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group J
not specified

Criteria Provided
Conflicting Classifications

CA16620510

rs_1064793894

5 SubmittersRCV000484914 RCV000570953 RCV000701214 RCV004596226

NM_032043.3(BRIP1):c.3058A>G (p.Thr1020Ala)

SNV
Germline

Chr17:61683988

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group J

Criteria Provided
Conflicting Classifications

CA16620511

rs_1064793073

4 SubmittersRCV000482641 RCV000569465 RCV000706762

NM_032043.3(BRIP1):c.2493-1G>A

SNV
Germline

Chr17:61693513

Pathogenic/Likely pathogenic

Condition: not provided
Familial cancer of breast
Fanconi anemia complementation group J
Hereditary cancer-predisposing syndrome
Melanoma

Criteria Provided
Multiple Submitters
No Conflicts

CA16620516

rs_786203451

4 SubmittersRCV000478650 RCV000694142 RCV002431385 RCV005899628

NM_032043.3(BRIP1):c.2448G>A (p.Trp816Ter)

SNV
Germline

Chr17:61715995

Pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA16620517

rs_1064795352

4 SubmittersRCV000485368 RCV000775951 RCV003335366 RCV005222962

NM_032043.3(BRIP1):c.2258-1G>A

SNV
Germline

Chr17:61743135

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA16620520

rs_1064793887

8 SubmittersRCV000477981 RCV000793928 RCV001014953 RCV000785425 RCV001358193 RCV002287408 RCV003128245 RCV003335352

NM_032043.3(BRIP1):c.1628+11A>G

SNV
Germline

Chr17:61784259

Conflicting classifications of pathogenicity

Condition: not provided
Familial cancer of breast
Fanconi anemia complementation group J

Criteria Provided
Conflicting Classifications

CA16620530

rs_1064793459

2 SubmittersRCV000479715 RCV002063704

NM_032043.3(BRIP1):c.1432C>T (p.His478Tyr)

SNV
Germline

Chr17:61793638

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group J
Familial ovarian cancer

Criteria Provided
Conflicting Classifications

CA8690743

rs_761452695

7 SubmittersRCV000481033 RCV000575059 RCV001038079 RCV005600943

NM_032043.3(BRIP1):c.868G>A (p.Gly290Ser)

SNV
Germline

Chr17:61808517

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group J

Criteria Provided
Conflicting Classifications

CA8690840

rs_145601931

4 SubmittersRCV000484748 RCV000775425 RCV000823332

NM_032043.3(BRIP1):c.504G>A (p.Gln168=)

SNV
Germline

Chr17:61849132

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA16620543

rs_1064795698

4 SubmittersRCV000487338 RCV000567711 RCV001478232 RCV004787787

NM_032043.3(BRIP1):c.487C>T (p.Pro163Ser)

SNV
Germline

Chr17:61849149

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group J

Criteria Provided
Conflicting Classifications

CA16620544

rs_1064795902

4 SubmittersRCV000483934 RCV000565081 RCV000811860

NM_000152.5(GAA):c.1552-3C>G

SNV
Germline

Chr17:80110938

Likely pathogenic

Condition: not provided
Glycogen storage disease, type II
Cardiovascular phenotype
Colon adenocarcinoma
Gastric cancer
Familial cancer of breast
Melanoma

Reviewed By Expert Panel

CA8815383

rs_375470378

19 SubmittersRCV000479616 RCV000593914 RCV003380590 RCV005899648 RCV005899649 RCV005899647 RCV005899650

NM_000214.3(JAG1):c.82G>C (p.Val28Leu)

SNV
Germline

Chr20:10673006

Conflicting classifications of pathogenicity

Condition: not provided
Alagille syndrome due to a JAG1 point mutation
Cardiovascular phenotype
JAG1-related disorder
Arteriohepatic dysplasia
not specified
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA9765218

rs_142855305

8 SubmittersRCV000731757 RCV001425112 RCV002431387 RCV004551579 RCV005002144 RCV005418154 RCV005899632

NM_007194.4(CHEK2):c.1610C>T (p.Ala537Val)

SNV
Germline

Chr22:28687919

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA16621042

rs_1064795821

4 SubmittersRCV000478951 RCV001012412 RCV002525912

NM_007194.4(CHEK2):c.1482G>C (p.Lys494Asn)

SNV
Germline

Chr22:28689195

Conflicting classifications of pathogenicity

Condition: not provided
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1
not specified
Familial prostate cancer
CHEK2-related cancer predisposition
Bone osteosarcoma

Criteria Provided
Conflicting Classifications

CA16621043

rs_767043399

9 SubmittersRCV000485124 RCV000556152 RCV000562793 RCV001174504 RCV004689756 RCV005027547

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_007194.4(CHEK2):c.1376-13A>G

SNV
Germline

Chr22:28694130

Conflicting classifications of pathogenicity

Condition: not provided
CHEK2-related cancer predisposition
Prostate cancer
Familial cancer of breast
Bone osteosarcoma
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA16621047

rs_1064793330

8 SubmittersRCV000487384 RCV000764371 RCV000775796 RCV001865432

NM_007194.4(CHEK2):c.1374A>G (p.Lys458=)

SNV
Germline

Chr22:28695128

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA10167673

rs_776093527

5 SubmittersRCV000480813 RCV000560968 RCV000543380

NM_007194.4(CHEK2):c.1260-4T>G

SNV
Germline

Chr22:28695246

Conflicting classifications of pathogenicity

Condition: not provided
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA16621051

rs_1064793337

2 SubmittersRCV000485039 RCV003766664

NM_007194.4(CHEK2):c.1115C>G (p.Ser372Cys)

SNV
Germline

Chr22:28695854

Conflicting classifications of pathogenicity

Condition: not provided
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Inherited breast cancer and ovarian cancer

Criteria Provided
Conflicting Classifications

CA16621057

rs_147877722

4 SubmittersRCV000484546 RCV001856811 RCV002436526 RCV005416034

NM_007194.4(CHEK2):c.908+5G>C

SNV
Germline

Chr22:28703500

Conflicting classifications of pathogenicity

Condition: not provided
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA16621065

rs_1064796016

2 SubmittersRCV000485985 RCV001343088

NM_007194.4(CHEK2):c.445-4T>C

SNV
Germline

Chr22:28725128

Conflicting classifications of pathogenicity

Condition: not provided
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA16621077

rs_1064795487

5 SubmittersRCV000487020 RCV001088821 RCV002329155

NM_007194.4(CHEK2):c.445-9C>G

SNV
Germline

Chr22:28725133

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA16621078

rs_1064794870

3 SubmittersRCV000484094 RCV001180854 RCV001079878

NM_007194.4(CHEK2):c.445-15T>A

SNV
Germline

Chr22:28725139

Conflicting classifications of pathogenicity

Condition: not provided
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA16621079

rs_1064793595

2 SubmittersRCV000479976 RCV003766665

NM_007194.4(CHEK2):c.444+2T>C

SNV
Germline

Chr22:28725241

Pathogenic/Likely pathogenic

Condition: not provided
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Prostate cancer
CHEK2-related cancer predisposition
Bone osteosarcoma
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA16621080

rs_560596101

10 SubmittersRCV000483398 RCV000543761 RCV000562639 RCV000763474

NM_007194.4(CHEK2):c.38A>G (p.His13Arg)

SNV
Germline

Chr22:28734684

Conflicting classifications of pathogenicity

Condition: not provided
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA16621085

rs_1064793324

4 SubmittersRCV000480755 RCV000547774 RCV000775780

NM_007194.4(CHEK2):c.28C>T (p.Gln10Ter)

SNV
Germline

Chr22:28734694

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA16621086

rs_1064793817

7 SubmittersRCV000480175 RCV001016911 RCV001066993

NM_003620.4(PPM1D):c.1281G>A (p.Trp427Ter)

SNV
Germline

Chr17:60663015

Pathogenic

Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold
Familial cancer of breast
Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold

Criteria Provided
Multiple Submitters
No Conflicts

CA16621552

rs_1064797099

3 SubmittersRCV000487769 RCV005222964

NM_000051.4(ATM):c.901G>A (p.Gly301Ser)

SNV
Germline

Chr11:108245026

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA16621626

rs_1064797160

6 SubmittersRCV000487981 RCV000579975 RCV000821980 RCV001171411 RCV005044733

NM_000051.4(ATM):c.5633C>T (p.Ser1878Leu)

SNV
Germline

Chr11:108304811

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6265741

rs_758908522

11 SubmittersRCV000489997 RCV000546553 RCV000569421 RCV000780900 RCV003316640

NM_000314.8(PTEN):c.634+2T>C

SNV
Germline

Chr10:87952261

Pathogenic

Cowden syndrome 1
PTEN hamartoma tumor syndrome
Hereditary cancer-predisposing syndrome
Glioma susceptibility 2
Familial prostate cancer
Macrocephaly-autism syndrome
Familial meningioma
Cowden syndrome 1
Familial cancer of breast

Reviewed By Expert Panel

CA377484731

rs_727504114

6 SubmittersRCV000516099 RCV001172260 RCV002356807 RCV005044738 RCV005899741

NM_000251.3(MSH2):c.1510+1G>A

SNV
Germline/somatic

Chr2:47463155

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Lynch syndrome
Lynch-like syndrome
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA346727215

rs_1114167852

6 SubmittersRCV000491735 RCV000780446 RCV001249922 RCV003449369 RCV005091026 RCV005367350

NM_000546.6(TP53):c.559+1G>A

SNV
Germline

Chr17:7675052

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
11 conditions
Condition: not provided
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1
Adrenocortical carcinoma, hereditary
Familial cancer of breast
Colorectal cancer
Squamous cell lung carcinoma
Ovarian serous cystadenocarcinoma
Melanoma
Colon adenocarcinoma
Malignant tumor of esophagus

Criteria Provided
Multiple Submitters
No Conflicts

CA397841068

rs_1131691042

10 SubmittersRCV000492159 RCV000763418 RCV000786834 RCV001210960 RCV002289678 RCV003476180 RCV005899768 RCV005899772 RCV005899770 RCV005899773 RCV005899774 RCV005899769 RCV005899771

NM_007194.4(CHEK2):c.1009-2A>G

SNV
Germline

Chr22:28696989

Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA10167745

rs_766158073

5 SubmittersRCV000492459 RCV000699758 RCV001543591

NM_007194.4(CHEK2):c.846+1G>A

SNV
Germline

Chr22:28710005

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA411102258

rs_864622149

6 SubmittersRCV000492671 RCV000522765 RCV000635951

NM_000051.4(ATM):c.850C>T (p.Gln284Ter)

SNV
Germline

Chr11:108244975

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA6264685

rs_757782702

5 SubmittersRCV000493159 RCV001389991 RCV003470607

NM_000051.4(ATM):c.2639-384A>G

SNV
Germline

Chr11:108268026

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA601698081

rs_1131691154

9 SubmittersRCV000493875 RCV001271168 RCV003464062 RCV005398714

NM_000051.4(ATM):c.3865A>T (p.Lys1289Ter)

SNV
Germline

Chr11:108284345

Pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382525312

rs_1131691160

3 SubmittersRCV000494348 RCV001224805 RCV004023292

NM_000051.4(ATM):c.4507C>T (p.Gln1503Ter)

SNV
Germline

Chr11:108292689

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA382533561

rs_1131691164

9 SubmittersRCV000493310 RCV000545871 RCV000657609 RCV000762822 RCV003470610

NM_000051.4(ATM):c.5771C>A (p.Ser1924Ter)

SNV
Germline

Chr11:108310168

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA382548290

rs_876658831

5 SubmittersRCV000493183 RCV001045119 RCV003470608 RCV004701558

NM_000051.4(ATM):c.7032G>A (p.Trp2344Ter)

SNV
Germline

Chr11:108327701

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA382558847

rs_1131691162

10 SubmittersRCV000493110 RCV000628129 RCV003470609 RCV002496891 RCV004999536

NM_000051.4(ATM):c.8431A>T (p.Lys2811Ter)

SNV
Germline

Chr11:108345755

Pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Ataxia-telangiectasia syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA382517770

rs_1131691158

3 SubmittersRCV000493282 RCV004023291 RCV005091035

NM_000051.4(ATM):c.8879G>A (p.Trp2960Ter)

SNV
Germline

Chr11:108365110

Pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382529659

rs_1131691149

6 SubmittersRCV000494678 RCV000552032 RCV003470606 RCV003483637

NM_000051.4(ATM):c.8495G>T (p.Arg2832Leu)

SNV
Germline

Chr11:108345819

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA382518109

rs_529296539

7 SubmittersRCV000493266 RCV000534120 RCV002413361 RCV005426079

NM_000465.4(BARD1):c.654G>A (p.Trp218Ter)

SNV
Germline

Chr2:214781220

Pathogenic/Likely pathogenic

Breast neoplasm
Familial cancer of breast
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA350456569

rs_1553622530

3 SubmittersRCV000504616 RCV002527116 RCV003488634

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_024675.4(PALB2):c.643G>T (p.Glu215Ter)

SNV
Germline

Chr16:23635903

Pathogenic

Breast neoplasm
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA395136539

rs_1555461693

2 SubmittersRCV000504603 RCV001385716

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_001002295.2(GATA3):c.1051-1G>C

SNV
Germline

Chr10:8073738

Pathogenic

Stage 5 chronic kidney disease
Familial cancer of breast
GATA3-related disorder

Criteria Provided
Single Submitter

CA202464157

rs_112417755

3 SubmittersRCV000494924 RCV005899790 RCV004730959

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.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_000094.4(COL7A1):c.5820G>A (p.Pro1940=)

SNV
Germline

Chr3:48576249

Pathogenic/Likely pathogenic

Epidermolysis bullosa dystrophica, autosomal recessive, localisata variant
Condition: not provided
7 conditions
Epidermolysis bullosa dystrophica
Epidermolysis bullosa dystrophica inversa, autosomal recessive
Recessive dystrophic epidermolysis bullosa
COL7A1-related disorder
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA2379312

rs_200972872

11 SubmittersRCV000018979 RCV000497540 RCV000763114 RCV001148931 RCV001272350 RCV002279273 RCV004535558 RCV005899797

NM_025114.4(CEP290):c.4813-2A>G

SNV
Germline

Chr12:88083232

Pathogenic/Likely pathogenic

Condition: not provided
Nephronophthisis
Joubert syndrome
Meckel-Gruber syndrome
Retinal dystrophy
Leber congenital amaurosis
Meckel syndrome, type 4
Bardet-Biedl syndrome 14
Leber congenital amaurosis 10
Joubert syndrome 5
Senior-Loken syndrome 6
Joubert syndrome 5
CEP290-related disorder
Bardet-Biedl syndrome 14
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA6711850

rs_369523378

14 SubmittersRCV000498458 RCV000687629 RCV001075395 RCV001271569 RCV001535842 RCV002248731 RCV002222534 RCV003464071 RCV005899811

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_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.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.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_000051.4(ATM):c.3927A>G (p.Ala1309=)

SNV
Germline

Chr11:108284407

Conflicting classifications of pathogenicity

not specified
Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Familial colorectal cancer type X

Criteria Provided
Conflicting Classifications

CA476744904

rs_1555093665

6 SubmittersRCV000500405 RCV000628210 RCV002376918 RCV004591443 RCV005356017

NM_001080414.4(CCDC88C):c.3202G>T (p.Ala1068Ser)

SNV
Germline

Chr14:91305920

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Inborn genetic diseases
Clear cell carcinoma of kidney
Colorectal cancer
Lung cancer
Cervical cancer
Familial cancer of breast
Uveal melanoma
Thyroid cancer, nonmedullary, 1

Criteria Provided
Conflicting Classifications

CA7309413

rs_201044013

9 SubmittersRCV000501265 RCV000951314 RCV002527213 RCV005899842 RCV005899844 RCV005899846 RCV005899841 RCV005899840 RCV005899843 RCV005899845

NM_032043.3(BRIP1):c.1741C>T (p.Arg581Ter)

SNV
Germline

Chr17:61780893

Pathogenic

Breast cancer, early-onset
Hereditary cancer-predisposing syndrome
Condition: not provided
Ovarian neoplasm
Familial cancer of breast
Fanconi anemia complementation group J
Familial cancer of breast
BRIP1-related disorder
Fanconi anemia complementation group D2

Criteria Provided
Multiple Submitters
No Conflicts

CA8690678

rs_780020495

15 SubmittersRCV000503203 RCV000568917 RCV000657756 RCV000785424 RCV000804787 RCV003335432 RCV004535588 RCV005055362

NM_032043.3(BRIP1):c.1141-9A>G

SNV
Germline

Chr17:61799308

Conflicting classifications of pathogenicity

Breast cancer, early-onset
not specified
Hereditary cancer-predisposing syndrome
Malignant tumor of breast
Fanconi anemia complementation group J
Familial cancer of breast
Familial cancer of breast
Condition: not provided

Criteria Provided
Conflicting Classifications

CA501151719

rs_1555607258

7 SubmittersRCV000500479 RCV000606663 RCV000776714 RCV001356605 RCV001405195 RCV004787810 RCV006260082

NM_004360.5(CDH1):c.1320G>T (p.Lys440Asn)

SNV
Germline

Chr16:68813495

Likely pathogenic

Blepharocheilodontic syndrome 1
Hereditary diffuse gastric adenocarcinoma
Familial cancer of breast
Ovarian cancer
Blepharocheilodontic syndrome 1
Endometrial carcinoma
Gastric cancer

Criteria Provided
Single Submitter

CA396461956

rs_1555515925

3 SubmittersRCV000505716 RCV005018868 RCV005900930

NM_000465.4(BARD1):c.79G>T (p.Glu27Ter)

SNV
Germline

Chr2:214809491

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA350465133

rs_587780037

5 SubmittersRCV000574708 RCV000508001 RCV001865645

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.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_024675.4(PALB2):c.62T>G (p.Leu21Ter)

SNV
Germline

Chr16:23638116

Pathogenic

Condition: not provided
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA7963863

rs_769240800

9 SubmittersRCV000507280 RCV000535566 RCV000575810

NM_004360.5(CDH1):c.833-2A>G

SNV
Germline

Chr16:68811682

Pathogenic

Hereditary diffuse gastric adenocarcinoma
Condition: not provided
CDH1-related diffuse gastric and lobular breast cancer syndrome
Familial cancer of breast

Reviewed By Expert Panel

CA396459533

rs_1555515596

5 SubmittersRCV000991086 RCV000508171 RCV003328388 RCV003476203

NM_032043.3(BRIP1):c.1182A>G (p.Glu394=)

SNV
Germline

Chr17:61799258

Conflicting classifications of pathogenicity

not specified
Familial cancer of breast
Fanconi anemia complementation group J
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA501151609

rs_1555607195

4 SubmittersRCV000507851 RCV002060165 RCV004787815 RCV004948374

NM_032043.3(BRIP1):c.387T>C (p.Pro129=)

SNV
Germline

Chr17:61849249

Conflicting classifications of pathogenicity

not specified
Familial cancer of breast
Fanconi anemia complementation group J
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA8690937

rs_779324498

5 SubmittersRCV000507927 RCV000548940 RCV001021345 RCV004787816

NM_007194.4(CHEK2):c.1259+8A>G

SNV
Germline

Chr22:28695702

Conflicting classifications of pathogenicity

not specified
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10167700

rs_368388249

7 SubmittersRCV000506517 RCV000527244 RCV000581749 RCV001712463

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.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.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.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.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.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.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.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_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_000546.6(TP53):c.478A>G (p.Met160Val)

SNV
Germline

Chr17:7675134

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Adrenocortical carcinoma, hereditary
Familial cancer of breast
Li-Fraumeni syndrome 1

Criteria Provided
Conflicting Classifications

CA397841976

rs_377274728

6 SubmittersRCV000513585 RCV000570720 RCV001051011 RCV004568658 RCV005356043

NM_147127.5(EVC2):c.1708C>T (p.Gln570Ter)

SNV
Germline

Chr4:5631795

Pathogenic

Short-rib thoracic dysplasia 6 with or without polydactyly
Type IV short rib polydactyly syndrome
Ellis-van Creveld syndrome
Curry-Hall syndrome
Ellis-van Creveld syndrome
Condition: not provided
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA2834978

rs_769864196

11 SubmittersRCV000515819 RCV000516102 RCV000666197 RCV001245243 RCV001574376 RCV005901105

NM_014363.6(SACS):c.1885G>A (p.Ala629Thr)

SNV
Germline

Chr13:23354727

Conflicting classifications of pathogenicity

Condition: not provided
Spastic paraplegia
Charlevoix-Saguenay spastic ataxia
Hereditary spastic paraplegia
Inborn genetic diseases
SACS-related disorder
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA6911833

rs_149638449

9 SubmittersRCV000518207 RCV001083870 RCV001113726 RCV001848890 RCV002525071 RCV004748801 RCV005901156

NM_000465.4(BARD1):c.2113A>T (p.Arg705Ter)

SNV
Germline

Chr2:214728897

Likely pathogenic

Condition: not provided
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA350450595

rs_1064795005

2 SubmittersRCV000522696 RCV005091214

NM_000465.4(BARD1):c.2002-1G>A

SNV
Germline

Chr2:214729009

Conflicting classifications of pathogenicity

Condition: not provided
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA2090090

rs_762601855

5 SubmittersRCV000523802 RCV000810463 RCV001188789

NM_000465.4(BARD1):c.363A>G (p.Ser121=)

SNV
Germline

Chr2:214792298

Conflicting classifications of pathogenicity

Condition: not provided
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA431141327

rs_1553624704

4 SubmittersRCV000522281 RCV000818097 RCV002456002

NM_000051.4(ATM):c.652C>T (p.Gln218Ter)

SNV
Germline

Chr11:108244108

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA382528550

rs_1555066551

8 SubmittersRCV000523860 RCV000575828 RCV001387799 RCV004023604

NM_000051.4(ATM):c.664C>T (p.Gln222Ter)

SNV
Germline

Chr11:108244789

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA382528913

rs_1555066917

6 SubmittersRCV000522207 RCV000672732 RCV002367729 RCV003464108

NM_000051.4(ATM):c.1066-2A>T

SNV
Germline

Chr11:108248931

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA382532304

rs_1555069514

5 SubmittersRCV000523800 RCV000777178 RCV001201887 RCV004023577

NM_000051.4(ATM):c.1264A>T (p.Lys422Ter)

SNV
Germline

Chr11:108250729

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA382533357

rs_1555070678

5 SubmittersRCV000523019 RCV002413412 RCV003605630 RCV004023584

NM_000051.4(ATM):c.2124+1G>T

SNV
Germline

Chr11:108254040

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA382537818

rs_1555073553

4 SubmittersRCV000522113 RCV000701337 RCV002420323 RCV004023620

NM_000051.4(ATM):c.3532A>T (p.Lys1178Ter)

SNV
Germline

Chr11:108281124

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA382520194

rs_1555091359

4 SubmittersRCV000520761 RCV002456010 RCV003605629 RCV004023582

NM_000051.4(ATM):c.4303A>T (p.Lys1435Ter)

SNV
Germline

Chr11:108289668

Pathogenic

Condition: not provided
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382531617

rs_876660964

3 SubmittersRCV000519120 RCV001203850 RCV004023542

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_000051.4(ATM):c.8152-1G>A

SNV
Germline

Chr11:108335844

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA382562325

rs_1398616877

7 SubmittersRCV000523454 RCV000574836 RCV001060841 RCV003470658

NM_000051.4(ATM):c.8793T>A (p.Cys2931Ter)

SNV
Germline

Chr11:108354817

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA382525570

rs_1555143494

6 SubmittersRCV000522033 RCV000539551 RCV001253612 RCV001018342

NM_024675.4(PALB2):c.1685-2A>G

SNV
Germline

Chr16:23630471

Likely pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast
PALB2-related disorder
Breast-ovarian cancer, familial, susceptibility to, 5

Criteria Provided
Multiple Submitters
No Conflicts

CA7963669

rs_754660432

6 SubmittersRCV000519126 RCV000568799 RCV001037839 RCV004527630 RCV005411471

NM_024675.4(PALB2):c.119G>A (p.Arg40Lys)

SNV
Germline

Chr16:23637942

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA279501900

rs_573118236

5 SubmittersRCV000523351 RCV000774647 RCV001063588 RCV003446134

NM_000546.6(TP53):c.596G>T (p.Gly199Val)

SNV
Germline/somatic

Chr17:7674935

Likely pathogenic

Condition: not provided
Familial prostate cancer
Familial cancer of breast
Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype

Criteria Provided
Single Submitter

CA397840476

rs_1555525857

3 SubmittersRCV000522967 RCV005901191 RCV005901190 RCV006254095

NM_007194.4(CHEK2):c.852C>A (p.Cys284Ter)

SNV
Germline

Chr22:28703561

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA411101344

rs_1555917031

5 SubmittersRCV000518920 RCV000571653 RCV001851498

NM_007194.4(CHEK2):c.232C>T (p.Gln78Ter)

SNV
Germline

Chr22:28734490

Pathogenic/Likely pathogenic

Condition: not provided
Familial cancer of breast
Hereditary cancer-predisposing syndrome
CHEK2-related cancer predisposition

Criteria Provided
Multiple Submitters
No Conflicts

CA411090665

rs_1555932341

7 SubmittersRCV000522849 RCV000576726 RCV001015209 RCV004577527

NM_000465.4(BARD1):c.2111G>A (p.Ser704Asn)

SNV
Germline

Chr2:214728899

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
BARD1-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA2090077

rs_764477334

3 SubmittersRCV000547710 RCV002420402 RCV005357562

NM_000465.4(BARD1):c.1925G>C (p.Arg642Thr)

SNV
Germline

Chr2:214730487

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA350451274

rs_1420797541

3 SubmittersRCV000531140 RCV002413485 RCV003441923

NM_000465.4(BARD1):c.1904-3C>G

SNV
Germline

Chr2:214730511

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA539535344

rs_876660360

6 SubmittersRCV000552715 RCV000570678 RCV003151785

NM_000465.4(BARD1):c.1767A>G (p.Ala589=)

SNV
Germline

Chr2:214745765

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
not specified

Criteria Provided
Conflicting Classifications

CA431145879

rs_1553615121

4 SubmittersRCV000536019 RCV002404407 RCV005231035

NM_000465.4(BARD1):c.1219G>A (p.Val407Met)

SNV
Germline

Chr2:214780655

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA350453682

rs_1553622168

2 SubmittersRCV000534021 RCV002367811

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.45C>A (p.Arg15=)

SNV
Germline

Chr2:214809525

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA64810433

rs_786201402

5 SubmittersRCV001141615 RCV000584097

NM_000465.4(BARD1):c.2001+1G>T

SNV
Germline

Chr2:214730410

Pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA2090109

rs_768490891

1 SubmittersRCV000545124

NM_000465.4(BARD1):c.1568+3A>G

SNV
Germline

Chr2:214767479

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA658657231

rs_1280734884

4 SubmittersRCV000548568 RCV000571992 RCV001755819

NM_000465.4(BARD1):c.1255A>G (p.Asn419Asp)

SNV
Germline

Chr2:214780619

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA64787909

rs_199834790

3 SubmittersRCV000559219 RCV002420401 RCV005416364

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.824T>A (p.Leu275Ter)

SNV
Germline

Chr2:214781050

Pathogenic

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA350455432

rs_765629130

2 SubmittersRCV000547826 RCV002431572

NM_000465.4(BARD1):c.726C>T (p.Phe242=)

SNV
Germline

Chr2:214781148

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA431390840

rs_876659277

3 SubmittersRCV000532699 RCV002384083

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.2227T>C (p.Cys743Arg)

SNV
Germline

Chr2:214728783

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA350450103

rs_1553612082

2 SubmittersRCV000560460 RCV000573841

NM_000465.4(BARD1):c.1161C>A (p.Phe387Leu)

SNV
Germline

Chr2:214780713

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2090332

rs_553790960

5 SubmittersRCV000546232 RCV001805155 RCV003488669

NM_000465.4(BARD1):c.975C>A (p.His325Gln)

SNV
Germline

Chr2:214780899

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA350454602

rs_876660202

2 SubmittersRCV000555133 RCV005298517

NM_000465.4(BARD1):c.637G>A (p.Glu213Lys)

SNV
Germline

Chr2:214781237

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA350456630

rs_1553622554

3 SubmittersRCV000526291 RCV002358483

NM_000465.4(BARD1):c.1877A>T (p.Asn626Ile)

SNV
Germline

Chr2:214745093

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA350452102

rs_587781443

2 SubmittersRCV000538708 RCV004948404

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_000465.4(BARD1):c.1802A>G (p.Asp601Gly)

SNV
Germline

Chr2:214745730

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2090170

rs_767765131

7 SubmittersRCV000524805 RCV000774675 RCV003318588

NM_000465.4(BARD1):c.1508A>G (p.Lys503Arg)

SNV
Germline

Chr2:214767542

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary cancer

Criteria Provided
Conflicting Classifications

CA2090246

rs_775002804

5 SubmittersRCV000545802 RCV000568989 RCV002285356 RCV004701621

NM_000465.4(BARD1):c.1487C>G (p.Ser496Ter)

SNV
Germline

Chr2:214767563

Pathogenic

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA350448401

rs_1405646805

4 SubmittersRCV000535461 RCV003362831

NM_000465.4(BARD1):c.1407C>A (p.Cys469Ter)

SNV
Germline

Chr2:214767643

Pathogenic/Likely pathogenic

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA350448807

rs_1553619349

4 SubmittersRCV000532723 RCV000565469

NM_000465.4(BARD1):c.1182A>G (p.Thr394=)

SNV
Germline

Chr2:214780692

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA2090327

rs_780580712

4 SubmittersRCV000545297 RCV001805156

NM_000465.4(BARD1):c.1147A>T (p.Met383Leu)

SNV
Germline

Chr2:214780727

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2090337

rs_761516178

5 SubmittersRCV000552814 RCV000570112 RCV004719857

NM_000465.4(BARD1):c.1042G>A (p.Val348Ile)

SNV
Germline

Chr2:214780832

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA350454199

rs_1315898207

3 SubmittersRCV000550101 RCV001009785 RCV001775853

NM_000465.4(BARD1):c.1016G>C (p.Ser339Thr)

SNV
Germline

Chr2:214780858

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA2090347

rs_201261729

3 SubmittersRCV000539750 RCV000776214

NM_000465.4(BARD1):c.463A>T (p.Arg155Ter)

SNV
Germline

Chr2:214781411

Pathogenic

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA350457639

rs_1553622669

3 SubmittersRCV000546594 RCV002330850

NM_000465.4(BARD1):c.54C>A (p.Asn18Lys)

SNV
Germline

Chr2:214809516

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA350465250

rs_587780032

6 SubmittersRCV000559915 RCV000571385 RCV001755820

NM_002292.4(LAMB2):c.3797+5G>A

SNV
Germline

Chr3:49123723

Conflicting classifications of pathogenicity

Condition: not provided
Familial cancer of breast
Pierson syndrome
LAMB2-related infantile-onset nephrotic syndrome

Criteria Provided
Conflicting Classifications

CA2393960

rs_150213016

4 SubmittersRCV005632497 RCV005896911 RCV006255722

NM_001182.5(ALDH7A1):c.246+6A>T

SNV
Germline

Chr5:126593345

Conflicting classifications of pathogenicity

Pyridoxine-dependent epilepsy
Condition: not provided
Thymoma
Gastric cancer
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA3389852

rs_759910341

3 SubmittersRCV000527906 RCV001704672 RCV005896790 RCV005896789 RCV005896788

NM_000553.6(WRN):c.3384-1G>A

SNV
Germline

Chr8:31147052

Pathogenic/Likely pathogenic

Werner syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA4705050

rs_776963381

4 SubmittersRCV000548461 RCV005901281

NM_001322934.2(NFKB2):c.2072-3C>T

SNV
Germline

Chr10:102401177

Conflicting classifications of pathogenicity

Immunodeficiency, common variable, 10
NFKB2-related disorder
Condition: not provided
not specified
Colon adenocarcinoma
Uterine carcinosarcoma
Cervical cancer
Familial cancer of breast
Sarcoma
Malignant tumor of esophagus
Uveal melanoma

Criteria Provided
Conflicting Classifications

CA5664988

rs_201550645

7 SubmittersRCV000550910 RCV003925698 RCV003424142 RCV005646965 RCV005897056 RCV005897061 RCV005897058 RCV005897055 RCV005897060 RCV005897057 RCV005897059

NM_000051.4(ATM):c.976A>G (p.Ile326Val)

SNV
Germline

Chr11:108247038

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA382531103

rs_1555068422

5 SubmittersRCV000528412 RCV000708662 RCV003470689

NM_000051.4(ATM):c.1068T>C (p.Val356=)

SNV
Germline

Chr11:108248935

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast
not specified

Criteria Provided
Conflicting Classifications

CA476671632

rs_1462038794

5 SubmittersRCV000545824 RCV000582494 RCV004591462 RCV006452713

NM_000051.4(ATM):c.1495C>T (p.Gln499Ter)

SNV
Germline

Chr11:108250960

Pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382534219

rs_1555071075

5 SubmittersRCV000528534 RCV001011781 RCV004023631

NM_000051.4(ATM):c.1547T>G (p.Leu516Ter)

SNV
Germline

Chr11:108251012

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA382534329

rs_786202195

4 SubmittersRCV000542486 RCV002404356 RCV004023632 RCV006260106

NM_000051.4(ATM):c.1881C>T (p.Phe627=)

SNV
Germline

Chr11:108252895

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA476672251

rs_1555072574

5 SubmittersRCV000540668 RCV001013489 RCV004591468 RCV005000098

NM_000051.4(ATM):c.2467-1G>A

SNV
Germline

Chr11:108267170

Likely pathogenic

Ataxia-telangiectasia syndrome
Malignant tumor of breast
Familial cancer of breast
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA382543080

rs_1328985852

6 SubmittersRCV000539233 RCV001260447 RCV003470665 RCV003225078 RCV004678733

NM_000051.4(ATM):c.2466+1G>A

SNV
Germline

Chr11:108259076

Pathogenic/Likely pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA228399971

rs_914092098

5 SubmittersRCV000555048 RCV002431495 RCV003476226

NM_000051.4(ATM):c.3382C>T (p.Gln1128Ter)

SNV
Germline

Chr11:108279588

Pathogenic

Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382517750

rs_876659825

2 SubmittersRCV000531887 RCV004023639

NM_000051.4(ATM):c.2751C>T (p.Ser917=)

SNV
Germline

Chr11:108268522

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA228407711

rs_876659611

4 SubmittersRCV000584244 RCV001457278 RCV004592467

NM_000051.4(ATM):c.4184A>G (p.Asn1395Ser)

SNV
Germline

Chr11:108289051

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA228374758

rs_375396787

5 SubmittersRCV000531934 RCV000777907 RCV005356061

NM_000051.4(ATM):c.4264A>G (p.Ile1422Val)

SNV
Germline

Chr11:108289629

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA6265430

rs_562445932

4 SubmittersRCV000557705 RCV000777908 RCV003464119

NM_000051.4(ATM):c.4639A>G (p.Ile1547Val)

SNV
Germline

Chr11:108293340

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6265524

rs_537377433

4 SubmittersRCV000528025 RCV000564870 RCV003464121 RCV004721408

NM_000051.4(ATM):c.5177+3G>A

SNV
Germline

Chr11:108299888

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA6265638

rs_774216164

4 SubmittersRCV000547011 RCV001181367 RCV004592502

NM_000051.4(ATM):c.5323T>G (p.Leu1775Val)

SNV
Germline

Chr11:108302856

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA228388283

rs_768820804

6 SubmittersRCV000548528 RCV000573724 RCV002060287 RCV004568679

NM_000051.4(ATM):c.5918+8A>C

SNV
Germline

Chr11:108310323

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast
not specified

Criteria Provided
Conflicting Classifications

CA601723866

rs_1401825950

6 SubmittersRCV000532576 RCV000583702 RCV004592510 RCV004701600

NM_000051.4(ATM):c.5971G>T (p.Glu1991Ter)

SNV
Germline

Chr11:108312463

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA382548737

rs_786203404

7 SubmittersRCV000554055 RCV000567120 RCV000991562 RCV003464123

NM_000051.4(ATM):c.6198+2T>C

SNV
Germline

Chr11:108316115

Pathogenic/Likely pathogenic

Ataxia-telangiectasia syndrome
Familial cancer of breast
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382550826

rs_1555113882

3 SubmittersRCV000556117 RCV004023650 RCV004796229

NM_000051.4(ATM):c.6196C>G (p.Gln2066Glu)

SNV
Germline

Chr11:108316111

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA382550803

rs_1361215494

4 SubmittersRCV000539253 RCV000560976 RCV003470677

NM_000051.4(ATM):c.6573-2A>G

SNV
Germline

Chr11:108325308

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA6265987

rs_751168951

6 SubmittersRCV000534309 RCV001025423 RCV003470678 RCV006260109

NM_000051.4(ATM):c.7308-2A>C

SNV
Germline

Chr11:108330212

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA382559855

rs_1555122938

4 SubmittersRCV000543267 RCV001026250 RCV003139744 RCV006435062

NM_000051.4(ATM):c.743G>T (p.Arg248Leu)

SNV
Germline

Chr11:108244868

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA382529260

rs_769166447

9 SubmittersRCV000540986 RCV000580624 RCV001267945 RCV003151081 RCV003470684

NM_000051.4(ATM):c.8903T>A (p.Leu2968Ter)

SNV
Germline

Chr11:108365134

Pathogenic

Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382529828

rs_1555151315

2 SubmittersRCV000543440 RCV004023660

NM_000051.4(ATM):c.2272G>T (p.Glu758Ter)

SNV
Germline

Chr11:108257502

Pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382539621

rs_1555075658

3 SubmittersRCV000546234 RCV000562105 RCV005869589

NM_000051.4(ATM):c.2693T>G (p.Leu898Ter)

SNV
Germline

Chr11:108268464

Pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382545194

rs_770610463

3 SubmittersRCV000540461 RCV002431498 RCV004023635

NM_000051.4(ATM):c.3488C>A (p.Ser1163Tyr)

SNV
Germline

Chr11:108281080

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA6265299

rs_372766122

3 SubmittersRCV000558586 RCV002341233 RCV003470667

NM_000051.4(ATM):c.4110-4T>C

SNV
Germline

Chr11:108288973

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial ovarian cancer
Breast and/or ovarian cancer
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA6265405

rs_777186156

6 SubmittersRCV000526638 RCV000570155 RCV001354274 RCV001798870 RCV004592486

NM_000051.4(ATM):c.4493T>G (p.Leu1498Ter)

SNV
Germline

Chr11:108292675

Pathogenic

Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382533389

rs_1329359780

2 SubmittersRCV000557405 RCV004023643

NM_000051.4(ATM):c.8959G>T (p.Asp2987Tyr)

SNV
Germline

Chr11:108365190

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
ATM-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA382530262

rs_863224582

10 SubmittersRCV000525512 RCV000570783 RCV001764521 RCV004568690 RCV005367373

NM_000051.4(ATM):c.557T>G (p.Leu186Ter)

SNV
Germline

Chr11:108244013

Pathogenic

Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382527749

rs_1555066388

2 SubmittersRCV000548202 RCV006633922

NM_000051.4(ATM):c.1442T>G (p.Leu481Ter)

SNV
Germline

Chr11:108250907

Pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast
Condition: not provided
Familial cancer of breast
ATM-related cancer predisposition

Reviewed By Expert Panel

CA382534080

rs_1555070980

10 SubmittersRCV000546281 RCV000564972 RCV000762814 RCV000657713 RCV002221550 RCV005638500

NM_000051.4(ATM):c.1775G>A (p.Ser592Asn)

SNV
Germline

Chr11:108252004

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6264865

rs_776911505

8 SubmittersRCV000537610 RCV000562395 RCV001292869 RCV001534928 RCV005044782

NM_000051.4(ATM):c.1898+1G>T

SNV
Germline

Chr11:108252913

Pathogenic/Likely pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382536128

rs_758325274

5 SubmittersRCV000529407 RCV000576102 RCV004023633

NM_000051.4(ATM):c.1898+3A>G

SNV
Germline

Chr11:108252915

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Breast and/or ovarian cancer
Condition: not provided
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA6264898

rs_200169643

7 SubmittersRCV000542135 RCV000571939 RCV003150259 RCV003324759 RCV005398764

NM_000051.4(ATM):c.2193C>A (p.Tyr731Ter)

SNV
Germline

Chr11:108256283

Pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Ataxia-telangiectasia syndrome
Familial cancer of breast
Familial colorectal cancer type X
Condition: not provided
ATM-related cancer predisposition

Criteria Provided
Multiple Submitters
No Conflicts

CA382538927

rs_2229019

8 SubmittersRCV000533402 RCV002431494 RCV003476225 RCV005044783 RCV005356060 RCV004719850 RCV006554548

NM_000051.4(ATM):c.2639-3T>C

SNV
Germline

Chr11:108268407

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA602132630

rs_1410247657

6 SubmittersRCV000551479 RCV001683551 RCV001805140 RCV004592466

NM_000051.4(ATM):c.3673C>T (p.Gln1225Ter)

SNV
Germline

Chr11:108282806

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA382523231

rs_1555092430

7 SubmittersRCV000542499 RCV000657606 RCV001020855 RCV004023641

NM_000051.4(ATM):c.3744T>C (p.Tyr1248=)

SNV
Germline

Chr11:108282877

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA476673401

rs_1555092589

5 SubmittersRCV000537614 RCV001021025 RCV004592481 RCV006260108

NM_000051.4(ATM):c.4609C>T (p.Gln1537Ter)

SNV
Germline

Chr11:108292791

Pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382534097

rs_1555100037

3 SubmittersRCV000534060 RCV002341234 RCV004023645

NM_000051.4(ATM):c.4910-5T>C

SNV
Germline

Chr11:108297282

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA658656218

rs_1309478967

5 SubmittersRCV000552366 RCV000567462 RCV003464122

NM_000051.4(ATM):c.5081C>T (p.Ala1694Val)

SNV
Germline

Chr11:108299789

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA382540630

rs_587782551

4 SubmittersRCV000531594 RCV002289715 RCV005502821

NM_000051.4(ATM):c.5674+6C>G

SNV
Germline

Chr11:108304858

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
not specified
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA6265749

rs_780204400

6 SubmittersRCV000557247 RCV000583627 RCV001293568 RCV005049588

NM_000051.4(ATM):c.5944C>T (p.Gln1982Ter)

SNV
Germline

Chr11:108312436

Pathogenic/Likely pathogenic

Ataxia-telangiectasia syndrome
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA382548683

rs_1555111775

5 SubmittersRCV000545189 RCV003470676 RCV004023649

NM_000051.4(ATM):c.6348-3C>T

SNV
Germline

Chr11:108319951

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA228405662

rs_946541820

4 SubmittersRCV000558871 RCV000565699 RCV005044786

NM_000051.4(ATM):c.7311C>A (p.Tyr2437Ter)

SNV
Germline

Chr11:108330217

Pathogenic/Likely pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Malignant tumor of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA228418043

rs_763470424

6 SubmittersRCV000526299 RCV001026262 RCV003470683 RCV003226319

NM_000051.4(ATM):c.7819T>C (p.Cys2607Arg)

SNV
Germline

Chr11:108332792

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA382561300

rs_1459650575

6 SubmittersRCV000546599 RCV000777212 RCV004592535 RCV004787835

NM_000051.4(ATM):c.7984G>A (p.Val2662Ile)

SNV
Germline

Chr11:108333942

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA382561767

rs_1315805984

7 SubmittersRCV000527553 RCV001180547 RCV001597153 RCV005044788

NM_000051.4(ATM):c.8671+1G>T

SNV
Germline

Chr11:108347366

Likely pathogenic

Ataxia-telangiectasia syndrome
Malignant tumor of breast
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA382521374

rs_1555139694

5 SubmittersRCV000542860 RCV003235271 RCV004023658 RCV004669025

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.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.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.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.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.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.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.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.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.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.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.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.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_024675.4(PALB2):c.2596G>T (p.Gly866Cys)

SNV
Germline

Chr16:23626388

Conflicting classifications of pathogenicity

Familial cancer of breast
Condition: not provided
Hereditary cancer-predisposing syndrome
not specified

Criteria Provided
Conflicting Classifications

CA7963516

rs_780415750

5 SubmittersRCV000536489 RCV000759899 RCV001187392 RCV004596242

NM_024675.4(PALB2):c.2017G>A (p.Glu673Lys)

SNV
Germline

Chr16:23630137

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA395127047

rs_1236182341

3 SubmittersRCV000540647 RCV000569513

NM_024675.4(PALB2):c.1643C>T (p.Ser548Leu)

SNV
Germline

Chr16:23634903

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA395130164

rs_1241049372

3 SubmittersRCV000547156 RCV000571222 RCV002259347

NM_024675.4(PALB2):c.1133C>T (p.Pro378Leu)

SNV
Germline

Chr16:23635413

Conflicting classifications of pathogenicity

Familial cancer of breast
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA395133627

rs_1442895662

4 SubmittersRCV000526864 RCV002293450 RCV002448657

NM_024675.4(PALB2):c.1109A>G (p.Gln370Arg)

SNV
Germline

Chr16:23635437

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA395133799

rs_1555461447

2 SubmittersRCV000557818 RCV005692216

NM_024675.4(PALB2):c.1004A>G (p.Asn335Ser)

SNV
Germline

Chr16:23635542

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA395134568

rs_1368473544

4 SubmittersRCV000554257 RCV000777235 RCV004719858

NM_024675.4(PALB2):c.223A>T (p.Lys75Ter)

SNV
Germline

Chr16:23636323

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 5

Criteria Provided
Multiple Submitters
No Conflicts

CA395138968

rs_1555461875

9 SubmittersRCV001014881 RCV000557714 RCV001008028 RCV005357565

NM_032444.4(SLX4):c.833G>A (p.Arg278Gln)

SNV
Germline

Chr16:3602235

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group P
Condition: not provided
Thyroid cancer, nonmedullary, 1
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA7866728

rs_201192909

7 SubmittersRCV000549439 RCV001118505 RCV002263734 RCV005901240 RCV005901239

NM_004360.5(CDH1):c.832+1G>A

SNV
Germline

Chr16:68810342

Pathogenic

Hereditary diffuse gastric adenocarcinoma
Hereditary cancer-predisposing syndrome
Malignant tumor of breast
Condition: not provided
CDH1-related diffuse gastric and lobular breast cancer syndrome
Familial cancer of breast

Reviewed By Expert Panel

CA396459027

rs_878854697

10 SubmittersRCV000552098 RCV000755032 RCV001357495 RCV001811046 RCV003328403 RCV005896759

NM_004360.5(CDH1):c.946A>G (p.Met316Val)

SNV
Germline

Chr16:68811797

Conflicting classifications of pathogenicity

Hereditary diffuse gastric adenocarcinoma
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Endometrial carcinoma
Hereditary diffuse gastric adenocarcinoma
Familial cancer of breast
Blepharocheilodontic syndrome 1
Ovarian cancer

Criteria Provided
Conflicting Classifications

CA8129956

rs_761182866

7 SubmittersRCV000559588 RCV000574966 RCV000780100 RCV003126813 RCV005018926

NM_016373.4(WWOX):c.406A>G (p.Ile136Val)

SNV
Germline

Chr16:78115151

Conflicting classifications of pathogenicity

Autosomal recessive spinocerebellar ataxia 12
Developmental and epileptic encephalopathy, 1
Developmental and epileptic encephalopathy, 28
Condition: not provided
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA8183177

rs_193027041

5 SubmittersRCV000537303 RCV001330929 RCV001507346 RCV005896926

NM_024675.4(PALB2):c.3436C>T (p.Gln1146Ter)

SNV
Germline

Chr16:23603584

Pathogenic

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA395138158

rs_879254033

3 SubmittersRCV000533343 RCV002456088

NM_024675.4(PALB2):c.3324C>G (p.Tyr1108Ter)

SNV
Germline

Chr16:23607890

Pathogenic/Likely pathogenic

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA395139370

rs_1218512317

7 SubmittersRCV000550532 RCV001019991 RCV004592566

NM_024675.4(PALB2):c.2835-5C>A

SNV
Germline

Chr16:23623135

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA658658401

rs_1555459605

2 SubmittersRCV000559855 RCV005692218

NM_024675.4(PALB2):c.3476G>T (p.Trp1159Leu)

SNV
Germline

Chr16:23603544

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA279524947

rs_587782050

6 SubmittersRCV000547300 RCV000564987 RCV003329296 RCV003317262

NM_024675.4(PALB2):c.2821A>G (p.Ile941Val)

SNV
Germline

Chr16:23624022

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 5
Fanconi anemia complementation group N
Pancreatic cancer, susceptibility to, 3

Criteria Provided
Conflicting Classifications

CA7963481

rs_778602038

9 SubmittersRCV000534984 RCV000572648 RCV000759902 RCV005004225

NM_024675.4(PALB2):c.2515-3C>T

SNV
Germline

Chr16:23629278

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA279491568

rs_957106428

4 SubmittersRCV000543762 RCV001015746 RCV001775854

NM_024675.4(PALB2):c.2290A>G (p.Lys764Glu)

SNV
Germline

Chr16:23629864

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA7963599

rs_573744591

3 SubmittersRCV000551829 RCV000771302

NM_024675.4(PALB2):c.1765A>G (p.Thr589Ala)

SNV
Germline

Chr16:23630389

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA395128203

rs_1437053825

4 SubmittersRCV000550043 RCV001013028 RCV003478137

NM_024675.4(PALB2):c.1471G>A (p.Ala491Thr)

SNV
Germline

Chr16:23635075

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA279498326

rs_577969558

5 SubmittersRCV000555891 RCV000563308 RCV001545090

NM_024675.4(PALB2):c.1082C>G (p.Thr361Ser)

SNV
Germline

Chr16:23635464

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA395133936

rs_1345668733

2 SubmittersRCV000557004 RCV005384760

NM_024675.4(PALB2):c.1061C>G (p.Ser354Cys)

SNV
Germline

Chr16:23635485

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA395134068

rs_1555461474

2 SubmittersRCV000532399 RCV005384759

NM_024675.4(PALB2):c.1066A>G (p.Lys356Glu)

SNV
Germline

Chr16:23635480

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Familial pancreatic carcinoma

Criteria Provided
Conflicting Classifications

CA395134035

rs_1202130508

9 SubmittersRCV000544610 RCV000575442 RCV001174761 RCV001538610 RCV005357564

NM_024675.4(PALB2):c.931A>G (p.Lys311Glu)

SNV
Germline

Chr16:23635615

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA395135258

rs_1060499831

5 SubmittersRCV000528073 RCV000564202 RCV001584261

NM_024675.4(PALB2):c.935G>A (p.Ser312Asn)

SNV
Germline

Chr16:23635611

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA395135226

rs_1407319475

4 SubmittersRCV000553560 RCV000567058 RCV001800745

NM_024675.4(PALB2):c.892G>A (p.Val298Ile)

SNV
Germline

Chr16:23635654

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA395135620

rs_1060502765

5 SubmittersRCV000551680 RCV000563746 RCV001800744 RCV005357568

NM_024675.4(PALB2):c.828C>T (p.His276=)

SNV
Germline

Chr16:23635718

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
Malignant tumor of breast
Fanconi anemia complementation group N
Familial ovarian cancer

Criteria Provided
Conflicting Classifications

CA279499381

rs_911713488

9 SubmittersRCV000557022 RCV000567452 RCV001171908 RCV001354533 RCV001118311 RCV001357885

NM_024675.4(PALB2):c.718C>A (p.Pro240Thr)

SNV
Germline

Chr16:23635828

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
Fanconi anemia complementation group N

Criteria Provided
Conflicting Classifications

CA7963768

rs_757567654

5 SubmittersRCV000530439 RCV000568617 RCV001030167 RCV001118312

NM_024675.4(PALB2):c.566G>T (p.Arg189Ile)

SNV
Germline

Chr16:23635980

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA7963780

rs_764180110

3 SubmittersRCV000535087 RCV001189068

NM_024675.4(PALB2):c.228A>G (p.Ile76Met)

SNV
Germline

Chr16:23636318

Conflicting classifications of pathogenicity

Familial cancer of breast
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA395138955

rs_1555461872

3 SubmittersRCV000534687 RCV003237908 RCV005692217

NM_024675.4(PALB2):c.406A>T (p.Ser136Cys)

SNV
Germline

Chr16:23636140

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
not specified

Criteria Provided
Conflicting Classifications

CA7963796

rs_144496685

5 SubmittersRCV000542390 RCV001021800 RCV004525963

NM_024675.4(PALB2):c.3394T>C (p.Leu1132=)

SNV
Germline

Chr16:23603626

Conflicting classifications of pathogenicity

Familial cancer of breast
not specified
Fanconi anemia complementation group N
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA494173743

rs_1282821765

7 SubmittersRCV000528385 RCV000602592 RCV001121623 RCV001020184 RCV001796099

NM_024675.4(PALB2):c.2452T>C (p.Phe818Leu)

SNV
Germline

Chr16:23629702

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA395124159

rs_1555460328

3 SubmittersRCV000546200 RCV001180795

NM_024675.4(PALB2):c.1702C>T (p.Gln568Ter)

SNV
Germline

Chr16:23630452

Pathogenic

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA395128442

rs_876659354

3 SubmittersRCV000549307 RCV002413486

NM_024675.4(PALB2):c.1507G>C (p.Ala503Pro)

SNV
Germline

Chr16:23635039

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA395131030

rs_1555461243

6 SubmittersRCV000540105 RCV000579884 RCV001755821

NM_024675.4(PALB2):c.1458A>G (p.Lys486=)

SNV
Germline

Chr16:23635088

Conflicting classifications of pathogenicity

Familial cancer of breast
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA494461445

rs_1555461270

4 SubmittersRCV000526724 RCV000985885 RCV004943959

NM_024675.4(PALB2):c.1192G>A (p.Val398Met)

SNV
Germline

Chr16:23635354

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7963726

rs_769097541

5 SubmittersRCV000553689 RCV000771520 RCV001030202

NM_024675.4(PALB2):c.1165C>G (p.Leu389Val)

SNV
Germline

Chr16:23635381

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA395133462

rs_1555461427

4 SubmittersRCV000552765 RCV000777229 RCV003236811

NM_024675.4(PALB2):c.305T>C (p.Val102Ala)

SNV
Germline

Chr16:23636241

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA395138793

rs_1313838988

5 SubmittersRCV000551090 RCV000575360 RCV001030141

NM_024675.4(PALB2):c.290C>A (p.Ser97Tyr)

SNV
Germline

Chr16:23636256

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA7963804

rs_776902295

3 SubmittersRCV000554765 RCV000580967

NM_004360.5(CDH1):c.1169A>G (p.Asn390Ser)

SNV
Germline

Chr16:68813344

Conflicting classifications of pathogenicity

Hereditary diffuse gastric adenocarcinoma
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA283307200

rs_964044070

4 SubmittersRCV000540402 RCV002289758 RCV002330866

NM_004360.5(CDH1):c.1103C>G (p.Thr368Ser)

SNV
Germline

Chr16:68812229

Conflicting classifications of pathogenicity

Hereditary diffuse gastric adenocarcinoma
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA8129996

rs_367868307

6 SubmittersRCV000537671 RCV000776452 RCV002289757 RCV004722889 RCV005431744

NM_004360.5(CDH1):c.1684A>T (p.Thr562Ser)

SNV
Germline

Chr16:68819398

Conflicting classifications of pathogenicity

Hereditary diffuse gastric adenocarcinoma
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
CDH1-related diffuse gastric and lobular breast cancer syndrome

Criteria Provided
Conflicting Classifications

CA396465371

rs_587782061

6 SubmittersRCV000549056 RCV001012720 RCV001561039 RCV003315437 RCV005357580

NM_004360.5(CDH1):c.1942G>T (p.Glu648Ter)

SNV
Germline

Chr16:68823404

Pathogenic

Hereditary diffuse gastric adenocarcinoma
Condition: not provided
CDH1-related diffuse gastric and lobular breast cancer syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Reviewed By Expert Panel

CA396467508

rs_971882211

9 SubmittersRCV000536569 RCV001268570 RCV003328394 RCV004948412 RCV005638111

NM_032043.3(BRIP1):c.2435C>T (p.Pro812Leu)

SNV
Germline

Chr17:61716008

Conflicting classifications of pathogenicity

Familial cancer of breast
Fanconi anemia complementation group J
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA400479625

rs_876659410

4 SubmittersRCV000535997 RCV000579710 RCV000587115

NM_032043.3(BRIP1):c.2307G>A (p.Leu769=)

SNV
Germline

Chr17:61743085

Conflicting classifications of pathogenicity

Familial cancer of breast
Fanconi anemia complementation group J
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Familial ovarian cancer

Criteria Provided
Conflicting Classifications

CA501151110

rs_1555590464

7 SubmittersRCV000546651 RCV000574495 RCV001551550 RCV003316702 RCV005367384

NM_032043.3(BRIP1):c.1936-7A>G

SNV
Germline

Chr17:61776569

Conflicting classifications of pathogenicity

Familial cancer of breast
Fanconi anemia complementation group J
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA658658668

rs_1427111542

3 SubmittersRCV000530471 RCV000777188 RCV004787868

NM_032043.3(BRIP1):c.791G>A (p.Arg264Gln)

SNV
Germline

Chr17:61808594

Conflicting classifications of pathogenicity

Familial cancer of breast
Fanconi anemia complementation group J
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA8690847

rs_758360637

7 SubmittersRCV000551521 RCV000572564 RCV001192825 RCV003478140 RCV003459219

NM_032043.3(BRIP1):c.385C>T (p.Pro129Ser)

SNV
Germline

Chr17:61849251

Conflicting classifications of pathogenicity

Familial cancer of breast
Fanconi anemia complementation group J
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA400484605

rs_1555616229

3 SubmittersRCV000536304 RCV002358486 RCV004691859

NM_032043.3(BRIP1):c.380-7A>G

SNV
Germline

Chr17:61849263

Conflicting classifications of pathogenicity

Familial cancer of breast
Fanconi anemia complementation group J
Hereditary cancer-predisposing syndrome
not specified
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA8690939

rs_748143260

6 SubmittersRCV000560139 RCV001526177 RCV004689784 RCV004787878

NM_032043.3(BRIP1):c.356A>G (p.Asn119Ser)

SNV
Germline

Chr17:61857081

Conflicting classifications of pathogenicity

Fanconi anemia complementation group J
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
not specified

Criteria Provided
Conflicting Classifications

CA292280535

rs_889877039

7 SubmittersRCV000539870 RCV000572830 RCV000985639 RCV001262881 RCV003987590

NM_032043.3(BRIP1):c.267A>T (p.Ala89=)

SNV
Germline

Chr17:61857170

Conflicting classifications of pathogenicity

Familial cancer of breast
Fanconi anemia complementation group J
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA501151410

rs_764027029

5 SubmittersRCV000535184 RCV000777013 RCV004767347 RCV004787871

NM_032043.3(BRIP1):c.93+1G>A

SNV
Germline

Chr17:61861446

Likely pathogenic

Familial cancer of breast
Fanconi anemia complementation group J
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA400485892

rs_587782047

4 SubmittersRCV000546192 RCV001171457 RCV002377045

NM_000546.6(TP53):c.783-1G>A

SNV
Germline

Chr17:7673838

Pathogenic/Likely pathogenic

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Li-Fraumeni syndrome 1
Familial cancer of breast
Li-Fraumeni syndrome 1
Gastric cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA397837303

rs_1555525367

10 SubmittersRCV000539601 RCV000565712 RCV001533211 RCV002289743 RCV005357555 RCV005901299

NM_001042492.3(NF1):c.3974+2T>C

SNV
Germline

Chr17:31236023

Likely pathogenic

Neurofibromatosis, type 1
Familial cancer of breast

Criteria Provided
Single Submitter

CA398993362

rs_1555615567

2 SubmittersRCV000526628 RCV005901257

NM_032043.3(BRIP1):c.2714A>G (p.Asn905Ser)

SNV
Germline

Chr17:61686027

Conflicting classifications of pathogenicity

Familial cancer of breast
Fanconi anemia complementation group J
Hereditary cancer-predisposing syndrome
not specified

Criteria Provided
Conflicting Classifications

CA400481678

rs_1555573412

4 SubmittersRCV000540935 RCV002431577 RCV006264033

NM_032043.3(BRIP1):c.1739C>T (p.Ser580Leu)

SNV
Germline

Chr17:61780895

Conflicting classifications of pathogenicity

Familial cancer of breast
Fanconi anemia complementation group J
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA400480351

rs_1356014648

3 SubmittersRCV000551078 RCV001012933

NM_032043.3(BRIP1):c.1140+7A>G

SNV
Germline

Chr17:61801246

Conflicting classifications of pathogenicity

Familial cancer of breast
Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA626807417

rs_1299846526

2 SubmittersRCV000555519 RCV004787861

NM_032043.3(BRIP1):c.338C>T (p.Thr113Ile)

SNV
Germline

Chr17:61857099

Conflicting classifications of pathogenicity

Familial cancer of breast
Fanconi anemia complementation group J
Hereditary cancer-predisposing syndrome
Condition: not provided
BRIP1-related disorder
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA8690960

rs_778480809

8 SubmittersRCV000535510 RCV000571933 RCV002284407 RCV004527640 RCV003459217

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_032043.3(BRIP1):c.3523A>G (p.Thr1175Ala)

SNV
Germline

Chr17:61683523

Conflicting classifications of pathogenicity

Familial cancer of breast
Fanconi anemia complementation group J
not specified
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA292267187

rs_372799558

6 SubmittersRCV000525915 RCV000780067 RCV000989975 RCV001020519 RCV001591213

NM_032043.3(BRIP1):c.2905+4T>A

SNV
Germline

Chr17:61685832

Conflicting classifications of pathogenicity

Familial cancer of breast
Fanconi anemia complementation group J
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA400481074

rs_373835270

3 SubmittersRCV000542761 RCV000561296 RCV004023848

NM_000546.6(TP53):c.673-2A>G

SNV
Germline/somatic

Chr17:7674292

Pathogenic/Likely pathogenic

Li-Fraumeni syndrome
Ovarian neoplasm
Condition: not provided
Li-Fraumeni syndrome 1
Hereditary cancer-predisposing syndrome
Uterine corpus endometrial carcinoma
Squamous cell lung carcinoma
Glioma susceptibility 1
Ovarian serous cystadenocarcinoma
Malignant tumor of esophagus
Lung cancer
Familial cancer of breast
Neoplasm

Criteria Provided
Multiple Submitters
No Conflicts

CA397839547

rs_1555525585

9 SubmittersRCV000553068 RCV000785307 RCV000786824 RCV002289737 RCV002289738 RCV005901298 RCV005901294 RCV005901293 RCV005901296 RCV005901295 RCV005901297 RCV005901292 RCV006273863

NM_032043.3(BRIP1):c.1795-9T>G

SNV
Germline

Chr17:61780410

Conflicting classifications of pathogenicity

Familial cancer of breast
Fanconi anemia complementation group J
not specified
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group J
Ovarian cancer

Criteria Provided
Conflicting Classifications

CA8690649

rs_777006706

7 SubmittersRCV000552644 RCV000615895 RCV001185499 RCV003316701 RCV005430366

NM_032043.3(BRIP1):c.1497A>G (p.Gln499=)

SNV
Germline

Chr17:61784401

Conflicting classifications of pathogenicity

Familial cancer of breast
Fanconi anemia complementation group J
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA501150798

rs_1555603597

4 SubmittersRCV000531033 RCV002282210 RCV002395347

NM_032043.3(BRIP1):c.736A>G (p.Ile246Val)

SNV
Germline

Chr17:61808649

Conflicting classifications of pathogenicity

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
not specified

Criteria Provided
Conflicting Classifications

CA8690851

rs_376893571

10 SubmittersRCV000534123 RCV000580310 RCV000759716 RCV001125840 RCV003324713 RCV006273868

NM_032043.3(BRIP1):c.397A>T (p.Thr133Ser)

SNV
Germline

Chr17:61849239

Conflicting classifications of pathogenicity

Fanconi anemia complementation group J
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA8690935

rs_764256720

3 SubmittersRCV000525072 RCV000570140

NM_032043.3(BRIP1):c.3272A>G (p.His1091Arg)

SNV
Germline

Chr17:61683774

Conflicting classifications of pathogenicity

Familial cancer of breast
Fanconi anemia complementation group J
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA8690376

rs_776129117

2 SubmittersRCV000540633 RCV005306068

NM_032043.3(BRIP1):c.2590G>A (p.Val864Ile)

SNV
Germline

Chr17:61686151

Conflicting classifications of pathogenicity

Familial cancer of breast
Fanconi anemia complementation group J
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8690474

rs_149529390

5 SubmittersRCV000546088 RCV000575702 RCV000679781

NM_032043.3(BRIP1):c.1825A>G (p.Thr609Ala)

SNV
Germline

Chr17:61780371

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA292281934

rs_189758577

7 SubmittersRCV000528910 RCV000581727 RCV000590700 RCV003144328 RCV003459211

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_032043.3(BRIP1):c.1141-3T>C

SNV
Germline

Chr17:61799302

Conflicting classifications of pathogenicity

Familial cancer of breast
Fanconi anemia complementation group J
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA8690782

rs_773264592

3 SubmittersRCV000531419 RCV001017440 RCV004787862

NM_000546.6(TP53):c.516T>G (p.Val172=)

SNV
Germline

Chr17:7675096

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA002450

rs_749309577

6 SubmittersRCV000556128 RCV001023655 RCV000578979 RCV005357554

NM_000546.6(TP53):c.917G>A (p.Arg306Gln)

SNV
Germline

Chr17:7673703

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Squamous cell carcinoma of the head and neck
not specified
Adrenocortical carcinoma, hereditary
Familial cancer of breast
Li-Fraumeni syndrome 1

Criteria Provided
Conflicting Classifications

CA287486566

rs_1048095040

11 SubmittersRCV000527123 RCV000561902 RCV000986056 RCV000664300 RCV000989706 RCV003330753 RCV004568752 RCV005357556

NM_007194.4(CHEK2):c.1159A>G (p.Thr387Ala)

SNV
Germline

Chr22:28695810

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10167717

rs_771387164

3 SubmittersRCV000555442 RCV000565631

NM_007194.4(CHEK2):c.684-8C>T

SNV
Germline

Chr22:28712025

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA658656816

rs_1555921406

6 SubmittersRCV000558950 RCV000776662 RCV001174804 RCV005000153

NM_007194.4(CHEK2):c.247C>T (p.Gln83Ter)

SNV
Germline

Chr22:28734475

Pathogenic

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA411090590

rs_1555932326

3 SubmittersRCV000525290 RCV002431573

NM_007194.4(CHEK2):c.1240G>T (p.Gly414Ter)

SNV
Germline

Chr22:28695729

Pathogenic

Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA411096597

rs_878854913

2 SubmittersRCV000536951

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_007194.4(CHEK2):c.1008+1G>T

SNV
Germline

Chr22:28699837

Likely pathogenic

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA411099231

rs_1555915298

3 SubmittersRCV000556065 RCV000570557

NM_007194.4(CHEK2):c.319+1G>C

SNV
Germline

Chr22:28734402

Likely pathogenic

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA411090153

rs_765080766

3 SubmittersRCV000532543 RCV005540106

NM_007194.4(CHEK2):c.1568G>A (p.Arg523His)

SNV
Germline

Chr22:28687961

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
Li-Fraumeni syndrome

Criteria Provided
Conflicting Classifications

CA411091342

rs_948928965

9 SubmittersRCV000546521 RCV000572698 RCV001569385 RCV005367381

NM_007194.4(CHEK2):c.1508A>G (p.Asn503Ser)

SNV
Germline

Chr22:28689169

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA411092397

rs_1555912017

2 SubmittersRCV000540027 RCV002395341

NM_007194.4(CHEK2):c.1297C>T (p.Gln433Ter)

SNV
Germline

Chr22:28695205

Pathogenic

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA411096112

rs_1555913494

4 SubmittersRCV000540634 RCV002384084

NM_000465.4(BARD1):c.2304G>A (p.Met768Ile)

SNV
Germline

Chr2:214728706

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided

Criteria Provided
Conflicting Classifications

CA64792574

rs_730881409

4 SubmittersRCV000574166 RCV001366906 RCV002473063

NM_000465.4(BARD1):c.1989C>T (p.Asn663=)

SNV
Germline

Chr2:214730423

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided

Criteria Provided
Conflicting Classifications

CA431139087

rs_587782767

6 SubmittersRCV000567070 RCV001429305 RCV003322788

NM_000465.4(BARD1):c.1905G>A (p.Trp635Ter)

SNV
Germline

Chr2:214730507

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
BARD1-related cancer predisposition

Criteria Provided
Multiple Submitters
No Conflicts

CA64793854

rs_773223671

7 SubmittersRCV000561015 RCV000635845 RCV001764637 RCV005357629

NM_000465.4(BARD1):c.1886G>A (p.Trp629Ter)

SNV
Germline

Chr2:214745084

Pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA2090145

rs_747446711

2 SubmittersRCV000562655 RCV006633927

NM_000465.4(BARD1):c.1810+2T>G

SNV
Germline

Chr2:214745720

Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Breast and/or ovarian cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA350452471

rs_1234033325

5 SubmittersRCV000569389 RCV000635609 RCV001270957

NM_000465.4(BARD1):c.2299G>T (p.Val767Leu)

SNV
Germline

Chr2:214728711

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA350449804

rs_1434753563

6 SubmittersRCV000570902 RCV001215604

NM_000465.4(BARD1):c.2059C>T (p.Pro687Ser)

SNV
Germline

Chr2:214728951

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA350450701

rs_1553612216

2 SubmittersRCV000562537 RCV001363654

NM_000465.4(BARD1):c.2002-1G>C

SNV
Germline

Chr2:214729009

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA350450833

rs_762601855

2 SubmittersRCV000561892 RCV003335476

NM_000465.4(BARD1):c.1843C>T (p.Gln615Ter)

SNV
Germline

Chr2:214745127

Pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Gastric cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA350452236

rs_751710099

4 SubmittersRCV000564576 RCV000804746 RCV003159961

NM_000465.4(BARD1):c.1744C>T (p.Gln582Ter)

SNV
Germline

Chr2:214745788

Pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA350452992

rs_1553615135

3 SubmittersRCV000574145 RCV001386467

NM_000465.4(BARD1):c.1924A>G (p.Arg642Gly)

SNV
Germline

Chr2:214730488

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA2090114

rs_765487816

4 SubmittersRCV000569437 RCV003114682

NM_000465.4(BARD1):c.1838C>A (p.Ala613Glu)

SNV
Germline

Chr2:214745132

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
BARD1-related disorder

Criteria Provided
Conflicting Classifications

CA2090152

rs_146629794

6 SubmittersRCV000568292 RCV000635905 RCV003313105 RCV004740334

NM_000465.4(BARD1):c.1568+2T>C

SNV
Germline

Chr2:214767480

Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA350448058

rs_1553619196

2 SubmittersRCV000569988 RCV003335516

NM_000465.4(BARD1):c.1385G>A (p.Trp462Ter)

SNV
Germline

Chr2:214769242

Pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA350450121

rs_1213894295

3 SubmittersRCV000574788 RCV001865702

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.2001+1G>C

SNV
Germline

Chr2:214730410

Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA350451081

rs_768490891

8 SubmittersRCV000571298 RCV000706252 RCV003488699

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_000465.4(BARD1):c.1822G>A (p.Val608Ile)

SNV
Germline

Chr2:214745148

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA2090154

rs_778987552

3 SubmittersRCV000565423 RCV002526768

NM_000465.4(BARD1):c.1912G>A (p.Ala638Thr)

SNV
Germline

Chr2:214730500

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
not specified
Condition: not provided
Ovarian cancer

Criteria Provided
Conflicting Classifications

CA2090116

rs_756136465

7 SubmittersRCV000568310 RCV000635747 RCV000779830 RCV002275108 RCV003153732

NM_000465.4(BARD1):c.1847G>A (p.Ser616Asn)

SNV
Germline

Chr2:214745123

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA350452222

rs_1475259063

3 SubmittersRCV000575244 RCV000635931

NM_000465.4(BARD1):c.1810+3G>T

SNV
Germline

Chr2:214745719

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided

Criteria Provided
Conflicting Classifications

CA658657221

rs_1310430913

3 SubmittersRCV000569239 RCV002528103 RCV003148794

NM_000465.4(BARD1):c.1204T>C (p.Ser402Pro)

SNV
Germline

Chr2:214780670

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA350453739

rs_1375796276

3 SubmittersRCV000570007 RCV001337339

NM_000465.4(BARD1):c.1314+4G>A

SNV
Germline

Chr2:214780556

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA658657236

rs_1553622081

2 SubmittersRCV000574866 RCV000700308

NM_000465.4(BARD1):c.1073C>T (p.Pro358Leu)

SNV
Germline

Chr2:214780801

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided

Criteria Provided
Conflicting Classifications

CA350454111

rs_1553622261

3 SubmittersRCV000568451 RCV001236137 RCV001764636

NM_000465.4(BARD1):c.653G>A (p.Trp218Ter)

SNV
Germline

Chr2:214781221

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA350456572

rs_1553622534

5 SubmittersRCV000571905 RCV001858245

NM_000465.4(BARD1):c.1338C>G (p.Tyr446Ter)

SNV
Germline

Chr2:214769289

Pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA350450445

rs_761702998

3 SubmittersRCV000561666 RCV001060889

NM_000465.4(BARD1):c.616C>A (p.Gln206Lys)

SNV
Germline

Chr2:214781258

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided

Criteria Provided
Conflicting Classifications

CA350456690

rs_1453894904

4 SubmittersRCV000573702 RCV001065603 RCV001591334

NM_000465.4(BARD1):c.1104C>G (p.Cys368Trp)

SNV
Germline

Chr2:214780770

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2090338

rs_371147849

7 SubmittersRCV000570710 RCV000635777 RCV000758761

NM_000465.4(BARD1):c.521G>A (p.Ser174Asn)

SNV
Germline

Chr2:214781353

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA350457474

rs_1277839212

3 SubmittersRCV000569317 RCV000635672

NM_000465.4(BARD1):c.517G>A (p.Ala173Thr)

SNV
Germline

Chr2:214781357

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA350457482

rs_1553622642

2 SubmittersRCV000567959 RCV001365347

NM_000465.4(BARD1):c.1083A>C (p.Glu361Asp)

SNV
Germline

Chr2:214780791

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2090340

rs_778116528

3 SubmittersRCV000569236 RCV001858249 RCV005000275

NM_000465.4(BARD1):c.986C>G (p.Ser329Cys)

SNV
Germline

Chr2:214780888

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA64788355

rs_905626929

8 SubmittersRCV000566662 RCV000694822 RCV001357677 RCV002476211

NM_000465.4(BARD1):c.931A>G (p.Lys311Glu)

SNV
Germline

Chr2:214780943

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA350454985

rs_1553622337

2 SubmittersRCV000562059 RCV003500556

NM_000465.4(BARD1):c.1057C>T (p.Pro353Ser)

SNV
Germline

Chr2:214780817

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA350454142

rs_1553622277

2 SubmittersRCV000562704 RCV000690479

NM_000465.4(BARD1):c.469G>A (p.Val157Ile)

SNV
Germline

Chr2:214781405

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA350457604

rs_1553622662

2 SubmittersRCV000567056 RCV000824560

NM_000465.4(BARD1):c.884A>G (p.Asn295Ser)

SNV
Germline

Chr2:214780990

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA350455152

rs_1448645093

2 SubmittersRCV000573008 RCV000697402

NM_000465.4(BARD1):c.808G>T (p.Glu270Ter)

SNV
Germline

Chr2:214781066

Pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA350455564

rs_1060501288

4 SubmittersRCV000565570 RCV000796390

NM_000465.4(BARD1):c.310A>G (p.Met104Val)

SNV
Germline

Chr2:214792351

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided

Criteria Provided
Conflicting Classifications

CA350460951

rs_1401565860

4 SubmittersRCV000569582 RCV000795148 RCV005241379

NM_000465.4(BARD1):c.217A>G (p.Asn73Asp)

SNV
Germline

Chr2:214792444

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA350461340

rs_1553624840

2 SubmittersRCV000566478 RCV002530248

NM_000465.4(BARD1):c.216-3A>C

SNV
Germline

Chr2:214792448

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided

Criteria Provided
Conflicting Classifications

CA539837398

rs_1329481396

4 SubmittersRCV000571467 RCV001371454 RCV002476244

NM_000465.4(BARD1):c.159T>G (p.Cys53Trp)

SNV
Germline

Chr2:214797117

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA350462334

rs_201708813

3 SubmittersRCV000572806 RCV001257154

NM_000465.4(BARD1):c.798G>C (p.Leu266Phe)

SNV
Germline

Chr2:214781076

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA350455633

rs_1553622436

6 SubmittersRCV000575594 RCV000695962 RCV002465715 RCV005000232

NM_000465.4(BARD1):c.420G>T (p.Lys140Asn)

SNV
Germline

Chr2:214781454

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA2090426

rs_758749603

3 SubmittersRCV000574944 RCV001238638

NM_000465.4(BARD1):c.389A>C (p.Lys130Thr)

SNV
Germline

Chr2:214781485

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
not specified

Criteria Provided
Conflicting Classifications

CA350458201

rs_1174079177

5 SubmittersRCV000563923 RCV001063014 RCV002265803

NM_000465.4(BARD1):c.365-4T>C

SNV
Germline

Chr2:214781513

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA658657212

rs_1553622735

3 SubmittersRCV000575423 RCV002528006

NM_002485.5(NBN):c.1502G>A (p.Trp501Ter)

SNV
Germline

Chr8:89953587

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Microcephaly, normal intelligence and immunodeficiency
Aplastic anemia
Aplastic anemia
Microcephaly, normal intelligence and immunodeficiency
Acute lymphoid leukemia

Criteria Provided
Multiple Submitters
No Conflicts

CA371655727

rs_1554558472

7 SubmittersRCV000568444 RCV000657733 RCV001005050 RCV001388337 RCV004569121 RCV005044839

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

SNV
Germline

Chr11:108235838

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Ataxia-telangiectasia syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA382525828

rs_587781375

5 SubmittersRCV000561000 RCV000613919 RCV001063793 RCV005398874

NM_000051.4(ATM):c.498A>T (p.Glu166Asp)

SNV
Germline

Chr11:108243954

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast
ATM-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA6264625

rs_587779842

7 SubmittersRCV000569717 RCV000627997 RCV003459313 RCV005357663

NM_000051.4(ATM):c.193C>G (p.Gln65Glu)

SNV
Germline

Chr11:108229185

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast
not specified

Criteria Provided
Conflicting Classifications

CA6264534

rs_775248597

6 SubmittersRCV000561045 RCV000627894 RCV004569259 RCV005431772

NM_000051.4(ATM):c.655T>C (p.Cys219Arg)

SNV
Germline

Chr11:108244111

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6264641

rs_771685059

8 SubmittersRCV000574948 RCV000627910 RCV000780889 RCV001549733 RCV005357673

NM_000051.4(ATM):c.362T>A (p.Leu121Ter)

SNV
Germline

Chr11:108235700

Pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA6264593

rs_771342315

3 SubmittersRCV000570543 RCV001858239 RCV004024497

NM_000051.4(ATM):c.456G>T (p.Val152=)

SNV
Germline

Chr11:108235794

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA476670414

rs_1555059433

5 SubmittersRCV000572522 RCV001500810 RCV004592710 RCV006260292

NM_000051.4(ATM):c.846A>T (p.Leu282Phe)

SNV
Germline

Chr11:108244971

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6264684

rs_754008850

6 SubmittersRCV000570159 RCV000627865 RCV003328603 RCV005367411

NM_000051.4(ATM):c.1492G>C (p.Glu498Gln)

SNV
Germline

Chr11:108250957

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA382534210

rs_1555071060

6 SubmittersRCV000568261 RCV000688060 RCV003465219 RCV005401497

NM_000051.4(ATM):c.1003G>T (p.Gly335Ter)

SNV
Germline

Chr11:108247065

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast
ATM-related cancer predisposition

Criteria Provided
Multiple Submitters
No Conflicts

CA382531372

rs_1555068471

5 SubmittersRCV000566562 RCV000689138 RCV004024453 RCV006554552

NM_000051.4(ATM):c.2033T>C (p.Ile678Thr)

SNV
Germline

Chr11:108253948

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
not specified
Familial cancer of breast
Breast and/or ovarian cancer

Criteria Provided
Conflicting Classifications

CA382537391

rs_1485409783

6 SubmittersRCV000561435 RCV001066679 RCV001328376 RCV002289826 RCV003150281

NM_000051.4(ATM):c.1178G>A (p.Trp393Ter)

SNV
Germline

Chr11:108249045

Pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382532540

rs_1025339570

3 SubmittersRCV000574876 RCV002526814 RCV004024473

NM_000051.4(ATM):c.2377-5T>C

SNV
Germline

Chr11:108258981

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA6265018

rs_754206007

3 SubmittersRCV000572482 RCV000628280 RCV004592661

NM_000051.4(ATM):c.1431G>C (p.Lys477Asn)

SNV
Germline

Chr11:108250896

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Malignant tumor of breast
Familial cancer of breast
Condition: not provided

Criteria Provided
Conflicting Classifications

CA382534043

rs_1555070941

5 SubmittersRCV000574447 RCV000697193 RCV001357554 RCV003465228 RCV004592742

NM_000051.4(ATM):c.73-1G>A

SNV
Germline

Chr11:108227775

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382519448

rs_1555054043

4 SubmittersRCV000561977 RCV001047640 RCV003465197

NM_000051.4(ATM):c.2838+1G>T

SNV
Germline

Chr11:108268610

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382545873

rs_1555083469

5 SubmittersRCV000563240 RCV000628011 RCV003459314

NM_000051.4(ATM):c.186-1G>A

SNV
Germline

Chr11:108229177

Likely pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382520987

rs_1259911051

3 SubmittersRCV000573660 RCV000810797 RCV003459312

NM_000051.4(ATM):c.4587T>G (p.Tyr1529Ter)

SNV
Germline

Chr11:108292769

Pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382533971

rs_1555100005

6 SubmittersRCV000575921 RCV000627912 RCV002289774

NM_000051.4(ATM):c.1235+3A>G

SNV
Germline

Chr11:108249105

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA602132545

rs_1417190414

8 SubmittersRCV000570921 RCV000698429 RCV003465220 RCV004721451 RCV005044848

NM_000051.4(ATM):c.4797A>C (p.Ser1599=)

SNV
Germline

Chr11:108294947

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA382536366

rs_1371876868

4 SubmittersRCV000562359 RCV003605641 RCV004592676

NM_000051.4(ATM):c.567A>G (p.Arg189=)

SNV
Germline

Chr11:108244023

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA476671434

rs_1555066398

5 SubmittersRCV000562303 RCV000928055 RCV004592620 RCV005000230

NM_000051.4(ATM):c.584C>T (p.Thr195Ile)

SNV
Germline

Chr11:108244040

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA382527950

rs_1196611507

5 SubmittersRCV000570373 RCV002272287 RCV001834818 RCV004569144

NM_000051.4(ATM):c.2141C>T (p.Thr714Ile)

SNV
Germline

Chr11:108256231

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA382538703

rs_1555074846

6 SubmittersRCV000569489 RCV000816814 RCV005357668 RCV006252703

NM_000051.4(ATM):c.5473C>A (p.Gln1825Lys)

SNV
Germline

Chr11:108303006

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA382544397

rs_1555106553

5 SubmittersRCV000572156 RCV001858170 RCV002476222 RCV003465194

NM_000051.4(ATM):c.680C>T (p.Ser227Leu)

SNV
Germline

Chr11:108244805

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6264666

rs_762998620

9 SubmittersRCV000569541 RCV000796269 RCV002222556 RCV003493663 RCV004776440

NM_000051.4(ATM):c.4888G>A (p.Asp1630Asn)

SNV
Germline

Chr11:108295038

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA382537200

rs_1555101921

3 SubmittersRCV000562636 RCV004024501

NM_000051.4(ATM):c.4947C>T (p.Val1649=)

SNV
Germline

Chr11:108297324

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA476674603

rs_1436324961

4 SubmittersRCV000562868 RCV001433564 RCV004592771 RCV004592770

NM_000051.4(ATM):c.2250+2T>C

SNV
Germline

Chr11:108256342

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382539329

rs_1555075037

4 SubmittersRCV000572322 RCV000821503 RCV003470805

NM_000051.4(ATM):c.2579A>G (p.Asp860Gly)

SNV
Germline

Chr11:108267283

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA228406449

rs_761251711

5 SubmittersRCV000563848 RCV000627857 RCV001770508 RCV003476327

NM_000051.4(ATM):c.6027C>G (p.Tyr2009Ter)

SNV
Germline

Chr11:108315843

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast
Ataxia-telangiectasia syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA382549871

rs_1555113567

4 SubmittersRCV000567406 RCV001385545 RCV005044849

NM_000051.4(ATM):c.1063C>T (p.Gln355Ter)

SNV
Germline

Chr11:108247125

Pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382531853

rs_1555068615

3 SubmittersRCV000568389 RCV001233528 RCV004024514

NM_000051.4(ATM):c.1176C>T (p.Gly392=)

SNV
Germline

Chr11:108249043

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA476671760

rs_1800727

5 SubmittersRCV000574348 RCV001248195 RCV005049606 RCV004592727

NM_000051.4(ATM):c.1537C>T (p.Gln513Ter)

SNV
Germline/somatic

Chr11:108251002

Pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Malignant tumor of urinary bladder
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA228391108

rs_865985297

6 SubmittersRCV000568251 RCV001865739 RCV003332200 RCV004024469

NM_000051.4(ATM):c.2922-5C>T

SNV
Germline

Chr11:108271246

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA658656159

rs_1452462211

4 SubmittersRCV000562081 RCV001499849 RCV004592660

NM_000051.4(ATM):c.3043C>T (p.Gln1015Ter)

SNV
Germline

Chr11:108271372

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382547577

rs_1555085210

4 SubmittersRCV000574063 RCV001057983 RCV003459341

NM_000051.4(ATM):c.3196A>C (p.Lys1066Gln)

SNV
Germline

Chr11:108272764

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA382515718

rs_1555086041

5 SubmittersRCV000561731 RCV001054716 RCV003222048 RCV004787948

NM_000051.4(ATM):c.3340A>T (p.Lys1114Ter)

SNV
Germline

Chr11:108279546

Pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Ataxia-telangiectasia syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA382517596

rs_1049900772

3 SubmittersRCV000568902 RCV004024456 RCV005091289

NM_000051.4(ATM):c.2376+1G>C

SNV
Germline

Chr11:108257607

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA382540429

rs_730881347

4 SubmittersRCV000565146 RCV002528970 RCV004024515 RCV004696951

NM_000051.4(ATM):c.6869A>C (p.Glu2290Ala)

SNV
Germline

Chr11:108326119

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA382556767

rs_1555119842

6 SubmittersRCV000569743 RCV001240932 RCV003459275

NM_000051.4(ATM):c.2722G>A (p.Val908Ile)

SNV
Germline

Chr11:108268493

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

CA382545317

rs_1190648236

3 SubmittersRCV000568746 RCV003465225 RCV003607315

NM_000051.4(ATM):c.6913C>T (p.Gln2305Ter)

SNV
Germline

Chr11:108326163

Pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Breast and/or ovarian cancer
Familial cancer of breast
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA382557041

rs_1282099124

6 SubmittersRCV000575199 RCV001208902 RCV001798899 RCV004024500 RCV005250077

NM_000051.4(ATM):c.6976-2A>G

SNV
Germline

Chr11:108327643

Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382557694

rs_587782403

2 SubmittersRCV000561983 RCV005248345

NM_000051.4(ATM):c.2902G>T (p.Glu968Ter)

SNV
Germline

Chr11:108271127

Pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382546939

rs_1555084723

3 SubmittersRCV000568610 RCV001388987 RCV005869623

NM_000051.4(ATM):c.8050C>T (p.Gln2684Ter)

SNV
Germline

Chr11:108335008

Pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Abnormal central motor function
Condition: not provided
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382561922

rs_1555127102

10 SubmittersRCV000571748 RCV001225686 RCV001814187 RCV003151789 RCV003459274

NM_000051.4(ATM):c.2922-4A>G

SNV
Germline

Chr11:108271247

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA658656160

rs_1555084924

4 SubmittersRCV000570633 RCV001461397 RCV004592619

NM_000051.4(ATM):c.4777-3T>C

SNV
Germline

Chr11:108294924

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA601721465

rs_1468242174

5 SubmittersRCV000568823 RCV000628271 RCV004592692 RCV006277920

NM_000051.4(ATM):c.8418+5G>A

SNV
Germline

Chr11:108343376

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast
Malignant tumor of breast
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA601698826

rs_1305740166

5 SubmittersRCV000566313 RCV001234263 RCV003470809 RCV005239223 RCV005629566

NM_000051.4(ATM):c.4909+3G>A

SNV
Germline

Chr11:108295062

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6265572

rs_778685122

9 SubmittersRCV000562529 RCV000628184 RCV001194330 RCV001584367 RCV004669045 RCV004592611

NM_000051.4(ATM):c.7921C>T (p.Gln2641Ter)

SNV
Germline

Chr11:108332894

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA6266213

rs_769523686

8 SubmittersRCV000574436 RCV000657754 RCV000628076 RCV003465192

NM_000051.4(ATM):c.4975A>G (p.Ile1659Val)

SNV
Germline

Chr11:108297352

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6265589

rs_778632065

6 SubmittersRCV000568872 RCV000812463 RCV001538998 RCV001764634

NM_000051.4(ATM):c.5065C>T (p.Gln1689Ter)

SNV
Germline

Chr11:108299773

Pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382540526

rs_1555104609

5 SubmittersRCV000562426 RCV000627893 RCV003470811

NM_000051.4(ATM):c.8850+2T>C

SNV
Germline

Chr11:108354876

Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382526141

rs_1555143623

2 SubmittersRCV000572161 RCV004024470

NM_000051.4(ATM):c.8150A>G (p.Lys2717Arg)

SNV
Germline

Chr11:108335108

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA382562265

rs_1555127353

5 SubmittersRCV000572136 RCV003500553 RCV004024472

NM_000051.4(ATM):c.3403-3A>C

SNV
Germline

Chr11:108280992

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
ATM-related disorder
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA6265290

rs_374866638

6 SubmittersRCV000561623 RCV000628193 RCV004553264 RCV004592652

NM_000051.4(ATM):c.8268G>T (p.Lys2756Asn)

SNV
Germline

Chr11:108335961

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA382562703

rs_1555128642

6 SubmittersRCV000564312 RCV001213681 RCV003465195 RCV003229841

NM_000051.4(ATM):c.5692C>T (p.Arg1898Ter)

SNV
Germline/somatic

Chr11:108307914

Pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided
Malignant tumor of urinary bladder
Gastric cancer
Familial cancer of breast
ATM-related cancer predisposition
Inherited breast cancer and ovarian cancer

Reviewed By Expert Panel

CA6265757

rs_775036118

16 SubmittersRCV000571941 RCV000671308 RCV002255463 RCV003332201 RCV003159965 RCV003465216 RCV005001082 RCV006556266

NM_000051.4(ATM):c.5762+1G>A

SNV
Germline

Chr11:108307985

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA382548029

rs_869312756

9 SubmittersRCV000572451 RCV000693089 RCV002305508 RCV003476328 RCV005056208

NM_000051.4(ATM):c.5763-5T>C

SNV
Germline

Chr11:108310155

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA658656269

rs_1555110219

3 SubmittersRCV000561688 RCV002060455 RCV004592749

NM_000051.4(ATM):c.5918G>A (p.Arg1973Lys)

SNV
Germline

Chr11:108310315

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA382548611

rs_1555110591

5 SubmittersRCV000566553 RCV000627987 RCV003465193

NM_000051.4(ATM):c.5935G>T (p.Glu1979Ter)

SNV
Germline

Chr11:108312427

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382548661

rs_1555111763

3 SubmittersRCV000570576 RCV001038293 RCV003459343

NM_000051.4(ATM):c.6002T>G (p.Leu2001Ter)

SNV
Germline

Chr11:108312494

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382548810

rs_1555111910

3 SubmittersRCV000573962 RCV003465190

NM_000051.4(ATM):c.4436+2T>C

SNV
Germline

Chr11:108289803

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382532302

rs_1555097898

4 SubmittersRCV000573320 RCV000628004 RCV005620972

NM_000051.4(ATM):c.6586A>T (p.Arg2196Ter)

SNV
Germline

Chr11:108325323

Pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382554668

rs_1555119011

4 SubmittersRCV000576576 RCV000571629 RCV004024499

NM_000051.4(ATM):c.4776+1G>T

SNV
Germline

Chr11:108293478

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA6265538

rs_771117943

7 SubmittersRCV000573615 RCV000669160 RCV001560132 RCV003470803

NM_000051.4(ATM):c.4777-4T>C

SNV
Germline

Chr11:108294923

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA6265556

rs_756025941

3 SubmittersRCV000562207 RCV001462822 RCV004592610

NM_000051.4(ATM):c.4909G>T (p.Asp1637Tyr)

SNV
Germline

Chr11:108295059

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA382537327

rs_753870656

4 SubmittersRCV000563264 RCV000686429 RCV005620980

NM_000051.4(ATM):c.4909+1G>A

SNV
Germline

Chr11:108295060

Pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA6265571

rs_756987454

5 SubmittersRCV000566360 RCV000628067 RCV004024452

NM_000051.4(ATM):c.5319+2T>C

SNV
Germline

Chr11:108301791

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA382542858

rs_1555105842

10 SubmittersRCV000565533 RCV000801687 RCV002060383 RCV003155950

NM_000051.4(ATM):c.5326G>T (p.Glu1776Ter)

SNV
Germline

Chr11:108302859

Pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Ataxia-telangiectasia syndrome
Familial cancer of breast
Ataxia-telangiectasia syndrome
Familial cancer of breast
ATM-related cancer predisposition

Criteria Provided
Multiple Submitters
No Conflicts

CA382543040

rs_1555106321

9 SubmittersRCV000564720 RCV000657611 RCV001218574 RCV002497210 RCV004024502 RCV005357674

NM_000051.4(ATM):c.5683C>A (p.His1895Asn)

SNV
Germline

Chr11:108307905

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA382547751

rs_766901049

5 SubmittersRCV000572229 RCV001208305 RCV003227795 RCV003459340

NM_000051.4(ATM):c.6096-3T>C

SNV
Germline

Chr11:108316008

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6265865

rs_748380897

6 SubmittersRCV000572845 RCV000628094 RCV001355568 RCV003237939 RCV004592763

NM_000051.4(ATM):c.6199-3T>C

SNV
Germline

Chr11:108317370

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA601724935

rs_1318760213

3 SubmittersRCV000567488 RCV001370807 RCV004592682

NM_000051.4(ATM):c.6277C>T (p.Pro2093Ser)

SNV
Germline

Chr11:108317451

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA228403260

rs_946942912

5 SubmittersRCV000571659 RCV000797659 RCV003459269

NM_000051.4(ATM):c.6289G>T (p.Glu2097Ter)

SNV
Germline

Chr11:108317463

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast
Condition: not provided
ATM-related cancer predisposition

Criteria Provided
Multiple Submitters
No Conflicts

CA382552045

rs_1555114737

8 SubmittersRCV000563760 RCV001384267 RCV004024450 RCV006250809 RCV006554551

NM_000051.4(ATM):c.6699C>T (p.Ile2233=)

SNV
Germline

Chr11:108325436

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA476745440

rs_1555119149

4 SubmittersRCV000565261 RCV001469993 RCV004592646 RCV004772998

NM_000051.4(ATM):c.7089+1G>A

SNV
Germline

Chr11:108327759

Likely pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA228414402

rs_777741666

3 SubmittersRCV000571077 RCV001210847 RCV004024513

NM_000051.4(ATM):c.7099G>C (p.Val2367Leu)

SNV
Germline

Chr11:108329030

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA382559394

rs_1060501647

4 SubmittersRCV000574066 RCV001217694 RCV004569091

NM_000051.4(ATM):c.7308-1G>C

SNV
Germline

Chr11:108330213

Likely pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382559857

rs_1555122941

4 SubmittersRCV000566704 RCV001858241 RCV003465226

NM_000051.4(ATM):c.8010+5T>G

SNV
Germline

Chr11:108333973

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA658656202

rs_56256497

4 SubmittersRCV000573344 RCV000628169 RCV004592740

NM_000051.4(ATM):c.8267A>G (p.Lys2756Arg)

SNV
Germline

Chr11:108335960

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA382562700

rs_1555128635

3 SubmittersRCV000569218 RCV001220325 RCV004569141

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.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.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.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.1732G>C (p.Gly578Arg)

SNV
Germline

Chr13:32333210

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Ovarian cancer

Criteria Provided
Conflicting Classifications

CA387765390

rs_1555282036

5 SubmittersRCV000570541 RCV002250660 RCV003153741

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.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.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.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.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.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.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.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.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.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.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.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_024675.4(PALB2):c.3165C>G (p.Tyr1055Ter)

SNV
Germline

Chr16:23614040

Pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA395141266

rs_876658157

3 SubmittersRCV000565155 RCV003451225

NM_024675.4(PALB2):c.2920A>G (p.Lys974Glu)

SNV
Germline

Chr16:23623045

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Familial cancer of breast
Pancreatic cancer, susceptibility to, 3
Fanconi anemia complementation group N
Condition: not provided

Criteria Provided
Conflicting Classifications

CA395144193

rs_1418709183

5 SubmittersRCV000568691 RCV000817606 RCV002491131 RCV003128630

NM_024675.4(PALB2):c.3500C>T (p.Thr1167Ile)

SNV
Germline

Chr16:23603520

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 5
Pancreatic cancer, susceptibility to, 3
Fanconi anemia complementation group N

Criteria Provided
Conflicting Classifications

CA395137900

rs_1308784980

8 SubmittersRCV000571848 RCV000635737 RCV000756459 RCV005018978

NM_024675.4(PALB2):c.2580G>T (p.Glu860Asp)

SNV
Germline

Chr16:23629210

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA395123652

rs_1348398121

5 SubmittersRCV000562114 RCV000704755 RCV005357695

NM_024675.4(PALB2):c.2509G>C (p.Glu837Gln)

SNV
Germline

Chr16:23629645

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided

Criteria Provided
Conflicting Classifications

CA395123935

rs_587778587

4 SubmittersRCV000566274 RCV001305394 RCV004592701

NM_024675.4(PALB2):c.2953T>C (p.Ser985Pro)

SNV
Germline

Chr16:23623012

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA7963462

rs_139726856

4 SubmittersRCV000572069 RCV000635674

NM_024675.4(PALB2):c.2858A>G (p.Asp953Gly)

SNV
Germline

Chr16:23623107

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided

Criteria Provided
Conflicting Classifications

CA395144455

rs_1555459583

5 SubmittersRCV000564938 RCV000814534 RCV003478226

NM_024675.4(PALB2):c.2245G>T (p.Glu749Ter)

SNV
Germline

Chr16:23629909

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Pancreatic cancer, susceptibility to, 3

Criteria Provided
Multiple Submitters
No Conflicts

CA395125490

rs_1555460431

5 SubmittersRCV000568921 RCV001242094 RCV003338667

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_024675.4(PALB2):c.2749-2A>C

SNV
Germline

Chr16:23624096

Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA395145283

rs_1555459747

3 SubmittersRCV000574502 RCV001858134

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_024675.4(PALB2):c.1945A>T (p.Lys649Ter)

SNV
Germline

Chr16:23630209

Pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA395127417

rs_1555460579

4 SubmittersRCV000563292 RCV001224726

NM_024675.4(PALB2):c.3350+4A>C

SNV
Germline

Chr16:23607860

Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA658658454

rs_180177136

2 SubmittersRCV000565846 RCV000701534

NM_024675.4(PALB2):c.3201G>A (p.Met1067Ile)

SNV
Germline

Chr16:23614004

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA395141087

rs_1555458809

4 SubmittersRCV000561229 RCV000635884

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_024675.4(PALB2):c.3091A>G (p.Ile1031Val)

SNV
Germline

Chr16:23621384

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA7963438

rs_757946618

3 SubmittersRCV000561086 RCV006556265

NM_024675.4(PALB2):c.2221G>A (p.Gly741Ser)

SNV
Germline

Chr16:23629933

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided

Criteria Provided
Conflicting Classifications

CA395125550

rs_1555460440

5 SubmittersRCV000565945 RCV000690008 RCV001030287

NM_024675.4(PALB2):c.1783G>A (p.Asp595Asn)

SNV
Germline

Chr16:23630371

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA395128128

rs_1555460653

2 SubmittersRCV000561858 RCV000804639

NM_024675.4(PALB2):c.2149G>A (p.Asp717Asn)

SNV
Germline

Chr16:23630005

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA7963616

rs_748692809

2 SubmittersRCV000562067 RCV002528017

NM_024675.4(PALB2):c.2026A>C (p.Ile676Leu)

SNV
Germline

Chr16:23630128

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Pancreatic cancer, susceptibility to, 3
Fanconi anemia complementation group N
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA7963636

rs_761478794

6 SubmittersRCV000563462 RCV000764049 RCV000989562

NM_024675.4(PALB2):c.2748+1G>A

SNV
Germline

Chr16:23626235

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 5
Pancreatic cancer, susceptibility to, 3
Fanconi anemia complementation group N

Criteria Provided
Multiple Submitters
No Conflicts

CA279488993

rs_753153576

8 SubmittersRCV000563623 RCV000985891 RCV001234382 RCV005018988

NM_024675.4(PALB2):c.1684+1G>T

SNV
Germline

Chr16:23634861

Likely pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA395129863

rs_1555461148

4 SubmittersRCV000572683 RCV002221556 RCV003485609

NM_024675.4(PALB2):c.2632G>T (p.Glu878Ter)

SNV
Germline

Chr16:23626352

Pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA395122165

rs_1555459999

4 SubmittersRCV000561696 RCV000635833 RCV001030334

NM_024675.4(PALB2):c.1660G>A (p.Glu554Lys)

SNV
Germline

Chr16:23634886

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA7963687

rs_377486858

5 SubmittersRCV000565852 RCV001053537 RCV001584375 RCV005231088

NM_024675.4(PALB2):c.2461A>T (p.Asn821Tyr)

SNV
Germline

Chr16:23629693

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA279492004

rs_958566673

8 SubmittersRCV000561459 RCV001240791 RCV003151105 RCV006260259

NM_024675.4(PALB2):c.1506G>C (p.Lys502Asn)

SNV
Germline

Chr16:23635040

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7963701

rs_371142570

5 SubmittersRCV000563604 RCV000691734 RCV005627371

NM_024675.4(PALB2):c.2402A>G (p.Asp801Gly)

SNV
Germline

Chr16:23629752

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA395124448

rs_1555460348

3 SubmittersRCV000563156 RCV001306017

NM_024675.4(PALB2):c.1327A>T (p.Lys443Ter)

SNV
Germline

Chr16:23635219

Pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA395132293

rs_1555461339

3 SubmittersRCV000574863 RCV000814465

NM_024675.4(PALB2):c.2234A>G (p.Lys745Arg)

SNV
Germline

Chr16:23629920

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Carcinoma of colon
Condition: not provided
Familial cancer of breast
Fanconi anemia complementation group N
Pancreatic cancer, susceptibility to, 3

Criteria Provided
Conflicting Classifications

CA7963609

rs_142343372

10 SubmittersRCV000566180 RCV000689640 RCV001030288 RCV001775883 RCV002491122

NM_024675.4(PALB2):c.1675C>T (p.Gln559Ter)

SNV
Germline

Chr16:23634871

Pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Gastric cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA395129920

rs_1555461154

9 SubmittersRCV000566479 RCV000989568 RCV001800773 RCV003159958

NM_024675.4(PALB2):c.2042A>C (p.Lys681Thr)

SNV
Germline

Chr16:23630112

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA395126889

rs_1555460514

3 SubmittersRCV000570278 RCV001035439

NM_024675.4(PALB2):c.1994A>T (p.Asp665Val)

SNV
Germline

Chr16:23630160

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA395127211

rs_1555460531

3 SubmittersRCV000563467 RCV001324301

NM_024675.4(PALB2):c.1833C>A (p.Asp611Glu)

SNV
Germline

Chr16:23630321

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA7963656

rs_779184831

9 SubmittersRCV000575169 RCV000586706 RCV000801789

NM_024675.4(PALB2):c.481G>C (p.Asp161His)

SNV
Germline

Chr16:23636065

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7963788

rs_769841151

6 SubmittersRCV000566918 RCV000817677 RCV002268179 RCV003318597

NM_024675.4(PALB2):c.371C>T (p.Thr124Ile)

SNV
Germline

Chr16:23636175

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA279500159

rs_45457297

4 SubmittersRCV000562435 RCV000693977 RCV003235296 RCV004689798

NM_024675.4(PALB2):c.1012C>A (p.Pro338Thr)

SNV
Germline

Chr16:23635534

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA395134450

rs_560853558

2 SubmittersRCV000566139 RCV001858211

NM_024675.4(PALB2):c.1243A>C (p.Ser415Arg)

SNV
Germline

Chr16:23635303

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA395132937

rs_1555461376

2 SubmittersRCV000570108 RCV001039556

NM_024675.4(PALB2):c.1176A>G (p.Glu392=)

SNV
Germline

Chr16:23635370

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
not specified

Criteria Provided
Conflicting Classifications

CA494461843

rs_1555461423

5 SubmittersRCV000570728 RCV001423280 RCV003321674

NM_024675.4(PALB2):c.808A>G (p.Ser270Gly)

SNV
Germline

Chr16:23635738

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided

Criteria Provided
Conflicting Classifications

CA395136000

rs_1347076714

5 SubmittersRCV000563900 RCV000807027 RCV000985895

NM_024675.4(PALB2):c.43G>A (p.Glu15Lys)

SNV
Germline

Chr16:23641115

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided

Criteria Provided
Conflicting Classifications

CA395141028

rs_730881884

4 SubmittersRCV000571125 RCV000635761 RCV004800469

NM_024675.4(PALB2):c.22C>T (p.Pro8Ser)

SNV
Germline

Chr16:23641136

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA395141151

rs_876660586

2 SubmittersRCV000575831 RCV001858135

NM_024675.4(PALB2):c.736A>T (p.Thr246Ser)

SNV
Germline

Chr16:23635810

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided

Criteria Provided
Conflicting Classifications

CA395136241

rs_1555461659

5 SubmittersRCV000567314 RCV000699347 RCV001775886

NM_024675.4(PALB2):c.560C>A (p.Pro187His)

SNV
Germline

Chr16:23635986

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 5
Hereditary cancer

Criteria Provided
Conflicting Classifications

CA7963781

rs_371582757

11 SubmittersRCV000563795 RCV000635903 RCV002476221 RCV003448324 RCV003492103

NM_024675.4(PALB2):c.509G>C (p.Arg170Thr)

SNV
Germline

Chr16:23636037

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided

Criteria Provided
Conflicting Classifications

CA279499902

rs_898765598

7 SubmittersRCV000564267 RCV000818311 RCV001030155

NM_024675.4(PALB2):c.193C>G (p.Pro65Ala)

SNV
Germline

Chr16:23637868

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided

Criteria Provided
Conflicting Classifications

CA395139040

rs_1229828972

3 SubmittersRCV000564430 RCV000704290 RCV006260286

NM_024675.4(PALB2):c.850A>G (p.Thr284Ala)

SNV
Germline

Chr16:23635696

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA395135866

rs_1555461584

4 SubmittersRCV000575140 RCV001030183 RCV003607310

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.311C>T (p.Pro104Leu)

SNV
Germline

Chr16:23636235

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA395138781

rs_1555461835

4 SubmittersRCV000574476 RCV000635862

NM_024675.4(PALB2):c.280G>C (p.Glu94Gln)

SNV
Germline

Chr16:23636266

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA395138842

rs_45602040

2 SubmittersRCV000566283 RCV001853787

NM_024675.4(PALB2):c.233T>C (p.Val78Ala)

SNV
Germline

Chr16:23636313

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided

Criteria Provided
Conflicting Classifications

CA395138944

rs_1313634930

5 SubmittersRCV000575076 RCV001044744 RCV006260287

NM_024675.4(PALB2):c.7G>A (p.Glu3Lys)

SNV
Germline

Chr16:23641151

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA395141243

rs_878855123

2 SubmittersRCV000561851 RCV001064138

NM_004360.5(CDH1):c.2T>C (p.Met1Thr)

SNV
Germline

Chr16:68737417

Pathogenic

Hereditary cancer-predisposing syndrome
Hereditary diffuse gastric adenocarcinoma
Familial cancer of breast
CDH1-related diffuse gastric and lobular breast cancer syndrome

Reviewed By Expert Panel

CA396451185

rs_1555509623

6 SubmittersRCV000566678 RCV000639234 RCV001310106 RCV003328425

NM_004360.5(CDH1):c.1843A>G (p.Ile615Val)

SNV
Germline

Chr16:68822132

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
6 conditions
Hereditary diffuse gastric adenocarcinoma
not specified
Endometrial carcinoma
Hereditary diffuse gastric adenocarcinoma
Familial cancer of breast
Blepharocheilodontic syndrome 1
Ovarian cancer
Condition: not provided

Criteria Provided
Conflicting Classifications

CA283312072

rs_1003012321

9 SubmittersRCV000566335 RCV000765307 RCV000701413 RCV001358762 RCV005018973 RCV004791586

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_024675.4(PALB2):c.2834+1G>C

SNV
Germline

Chr16:23624008

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA395144749

rs_587776419

3 SubmittersRCV000569964 RCV001858210 RCV003320696

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_024675.4(PALB2):c.2503T>A (p.Ser835Thr)

SNV
Germline

Chr16:23629651

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA395123952

rs_1343435250

2 SubmittersRCV000562867 RCV001858209

NM_024675.4(PALB2):c.2494C>T (p.His832Tyr)

SNV
Germline

Chr16:23629660

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA279491908

rs_901786175

5 SubmittersRCV000568602 RCV000635698 RCV001174939 RCV006260276

NM_024675.4(PALB2):c.1883A>C (p.Lys628Thr)

SNV
Germline

Chr16:23630271

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA279493367

rs_954390684

7 SubmittersRCV000570203 RCV000706639 RCV001584379 RCV004800473

NM_024675.4(PALB2):c.1784A>G (p.Asp595Gly)

SNV
Germline

Chr16:23630370

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA395128119

rs_1555460652

2 SubmittersRCV000571419 RCV000812280

NM_024675.4(PALB2):c.1648A>T (p.Lys550Ter)

SNV
Germline

Chr16:23634898

Pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA395130127

rs_1555461178

3 SubmittersRCV000569937 RCV001853819

NM_024675.4(PALB2):c.1627A>G (p.Lys543Glu)

SNV
Germline

Chr16:23634919

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7963689

rs_770908238

4 SubmittersRCV000565142 RCV000635743 RCV002274068

NM_024675.4(PALB2):c.1562C>T (p.Thr521Ile)

SNV
Germline

Chr16:23634984

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA395130739

rs_1555461218

2 SubmittersRCV000571175 RCV001304806

NM_024675.4(PALB2):c.1377C>A (p.Asp459Glu)

SNV
Germline

Chr16:23635169

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
not specified

Criteria Provided
Conflicting Classifications

CA7963712

rs_771002573

4 SubmittersRCV000564673 RCV001218569 RCV006273901

NM_024675.4(PALB2):c.1292G>A (p.Ser431Asn)

SNV
Germline

Chr16:23635254

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
not specified

Criteria Provided
Conflicting Classifications

CA395132501

rs_1555461357

4 SubmittersRCV000561985 RCV000635950 RCV000780557

NM_024675.4(PALB2):c.1141C>T (p.Leu381Phe)

SNV
Germline

Chr16:23635405

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA395133592

rs_1555461435

3 SubmittersRCV000566800 RCV001239808

NM_024675.4(PALB2):c.505C>G (p.Leu169Val)

SNV
Germline

Chr16:23636041

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA395137027

rs_180177086

2 SubmittersRCV000575213 RCV001345557

NM_024675.4(PALB2):c.349C>A (p.Pro117Thr)

SNV
Germline

Chr16:23636197

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 5
Condition: not provided

Criteria Provided
Conflicting Classifications

CA395137687

rs_1413238389

6 SubmittersRCV000567477 RCV000684939 RCV003444602 RCV003237929

NM_024675.4(PALB2):c.187C>G (p.Leu63Val)

SNV
Germline

Chr16:23637874

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA7963829

rs_730881899

2 SubmittersRCV000575025 RCV001858327

NM_024675.4(PALB2):c.90G>A (p.Lys30=)

SNV
Germline

Chr16:23638088

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided

Criteria Provided
Conflicting Classifications

CA494167972

rs_515726130

4 SubmittersRCV000566824 RCV001444109 RCV003478215

NM_024675.4(PALB2):c.48+1G>A

SNV
Germline

Chr16:23641109

Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA395140998

rs_515726118

5 SubmittersRCV000561202 RCV000635645 RCV000708619

NM_004360.5(CDH1):c.263C>G (p.Pro88Arg)

SNV
Germline

Chr16:68801769

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary diffuse gastric adenocarcinoma
Breast and/or ovarian cancer
Ovarian cancer
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA396457265

rs_1381409755

4 SubmittersRCV000565051 RCV000799734 RCV003150282 RCV005367419

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.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.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_032043.3(BRIP1):c.2627G>A (p.Ser876Asn)

SNV
Germline

Chr17:61686114

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group J

Criteria Provided
Conflicting Classifications

CA8690468

rs_750961319

3 SubmittersRCV000565343 RCV001300400

NM_032043.3(BRIP1):c.2225A>C (p.Tyr742Ser)

SNV
Germline

Chr17:61744464

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA400482924

rs_1555591351

5 SubmittersRCV000573545 RCV000801819 RCV000759707 RCV005604793

NM_032043.3(BRIP1):c.1894A>G (p.Thr632Ala)

SNV
Germline

Chr17:61780302

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group J

Criteria Provided
Conflicting Classifications

CA400479308

rs_1555602149

2 SubmittersRCV000576027 RCV001858189

NM_032043.3(BRIP1):c.3350C>T (p.Ser1117Leu)

SNV
Germline

Chr17:61683696

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group J
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA400478921

rs_1555572672

4 SubmittersRCV000574108 RCV000702483 RCV003478252 RCV003994022

NM_032043.3(BRIP1):c.1474-1G>A

SNV
Germline

Chr17:61784425

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Familial cancer of breast
Fanconi anemia complementation group J
Fanconi anemia complementation group J
Ovarian cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA400481794

rs_1555603638

7 SubmittersRCV000569916 RCV000758988 RCV000780062 RCV001867860 RCV005430367

NM_032043.3(BRIP1):c.2905+3A>G

SNV
Germline

Chr17:61685833

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group J
Condition: not provided
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA400481078

rs_1555573247

5 SubmittersRCV000570919 RCV001210391 RCV003478233 RCV003476330

NM_032043.3(BRIP1):c.1412A>G (p.Asn471Ser)

SNV
Germline

Chr17:61793658

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group J

Criteria Provided
Conflicting Classifications

CA400482165

rs_1555605906

2 SubmittersRCV000563546 RCV001372997

NM_032043.3(BRIP1):c.3026G>A (p.Gly1009Glu)

SNV
Germline

Chr17:61684020

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA400479966

rs_1555572908

3 SubmittersRCV000569183 RCV000696070 RCV004777742

NM_032043.3(BRIP1):c.2905+4T>C

SNV
Germline

Chr17:61685832

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group J
Condition: not provided
Familial ovarian cancer

Criteria Provided
Conflicting Classifications

CA8690444

rs_373835270

5 SubmittersRCV000565993 RCV000636100 RCV001571712 RCV005600999

NM_032043.3(BRIP1):c.2379+1G>A

SNV
Germline

Chr17:61743012

Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA400482519

rs_1555590286

5 SubmittersRCV000563402 RCV001865709 RCV003335483

NM_032043.3(BRIP1):c.1972C>A (p.Arg658=)

SNV
Germline

Chr17:61776526

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Familial cancer of breast
Fanconi anemia complementation group J
Familial cancer of breast
Condition: not provided

Criteria Provided
Conflicting Classifications

CA501150197

rs_786203170

6 SubmittersRCV000572359 RCV000589277 RCV000912673 RCV004787916 RCV006450244

NM_032043.3(BRIP1):c.721T>C (p.Ser241Pro)

SNV
Germline

Chr17:61808664

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8690852

rs_771542690

5 SubmittersRCV000561737 RCV001227266 RCV001194705

NM_032043.3(BRIP1):c.1953T>C (p.Ile651=)

SNV
Germline

Chr17:61776545

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Familial cancer of breast
Fanconi anemia complementation group J
Familial cancer of breast
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8690615

rs_754400631

5 SubmittersRCV000567916 RCV000781174 RCV001443618 RCV004791589 RCV004797836

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_032043.3(BRIP1):c.314C>G (p.Ser105Ter)

SNV
Germline

Chr17:61857123

Pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA400485388

rs_1555617829

2 SubmittersRCV000571146 RCV003335496

NM_032043.3(BRIP1):c.1414G>T (p.Glu472Ter)

SNV
Germline

Chr17:61793656

Pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA400482158

rs_1555605902

4 SubmittersRCV000575093 RCV000694857 RCV003335480

NM_032043.3(BRIP1):c.1340+1G>A

SNV
Germline

Chr17:61799099

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group J
Familial cancer of breast
Familial cancer of breast
Fanconi anemia complementation group J
Malignant tumor of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA400483267

rs_1555607022

6 SubmittersRCV000566442 RCV000636084 RCV000990019 RCV001783071 RCV003987606

NM_032043.3(BRIP1):c.1294A>T (p.Lys432Ter)

SNV
Germline

Chr17:61799146

Pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group J

Criteria Provided
Multiple Submitters
No Conflicts

CA400483503

rs_1555607070

3 SubmittersRCV000566907 RCV003767220

NM_032043.3(BRIP1):c.484C>A (p.Arg162=)

SNV
Germline

Chr17:61849152

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group J
Condition: not provided
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA501150872

rs_747604569

5 SubmittersRCV000565098 RCV000636227 RCV001530566 RCV004787904

NM_032043.3(BRIP1):c.305A>G (p.Gln102Arg)

SNV
Germline

Chr17:61857132

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group J
Familial ovarian cancer

Criteria Provided
Conflicting Classifications

CA400485406

rs_1484234707

5 SubmittersRCV000566912 RCV000636126 RCV005357636

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_032043.3(BRIP1):c.982T>C (p.Phe328Leu)

SNV
Germline

Chr17:61801411

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group J

Criteria Provided
Conflicting Classifications

CA400484184

rs_1555607763

2 SubmittersRCV000569097 RCV005223002

NM_032043.3(BRIP1):c.259T>A (p.Cys87Ser)

SNV
Germline

Chr17:61857178

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA400485515

rs_1555617897

4 SubmittersRCV000564994 RCV000802648 RCV001755930

NM_000546.6(TP53):c.275C>T (p.Pro92Leu)

SNV
Germline

Chr17:7676094

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1
Familial cancer of breast
Li-Fraumeni syndrome 1

Criteria Provided
Conflicting Classifications

CA397845138

rs_1210700121

7 SubmittersRCV000566433 RCV000811514 RCV002289782 RCV005357651

NM_000546.6(TP53):c.376-1G>A

SNV
Germline/somatic

Chr17:7675237

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Li-Fraumeni syndrome
Ovarian neoplasm
Lip and oral cavity carcinoma
Li-Fraumeni syndrome 1
Gastric cancer
Melanoma
Hepatocellular carcinoma
Familial cancer of breast
Ovarian serous cystadenocarcinoma
Acute myeloid leukemia
Familial prostate cancer
Colorectal cancer
Glioma susceptibility 1
Neoplasm

Criteria Provided
Multiple Submitters
No Conflicts

CA287488727

rs_868137297

12 SubmittersRCV000570638 RCV000786836 RCV000800144 RCV000785531 RCV001255670 RCV002289803 RCV005898510 RCV005898512 RCV005898507 RCV005898504 RCV005898511 RCV005898506 RCV005898508 RCV005898509 RCV005898505 RCV006273897

NM_000546.6(TP53):c.375G>C (p.Thr125=)

SNV
Germline

Chr17:7675994

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
TP53-related disorder
Li-Fraumeni syndrome
Adrenocortical carcinoma, hereditary
Li-Fraumeni syndrome 1
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA497926317

rs_55863639

8 SubmittersRCV000570944 RCV002508940 RCV003403351 RCV003509563 RCV003476320 RCV004024459 RCV005898501

NM_007294.4(BRCA1):c.724A>G (p.Ser242Gly)

SNV
Germline

Chr17:43094807

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA10600637

rs_1555593258

3 SubmittersRCV000563524 RCV003607302

NM_032043.3(BRIP1):c.3693A>G (p.Ile1231Met)

SNV
Germline

Chr17:61683353

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Familial cancer of breast
Fanconi anemia complementation group J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA292267084

rs_1046992728

6 SubmittersRCV000569978 RCV000989970 RCV001055410 RCV005861138

NM_032043.3(BRIP1):c.2472C>T (p.Ala824=)

SNV
Germline

Chr17:61715971

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA8690524

rs_767666616

6 SubmittersRCV000574587 RCV000759710 RCV001078779 RCV003316734

NM_032043.3(BRIP1):c.1936-1G>A

SNV
Germline

Chr17:61776563

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Familial cancer of breast
Fanconi anemia complementation group J
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA400478665

rs_1555601204

4 SubmittersRCV000566261 RCV001289543 RCV001858150 RCV001821665

NM_032043.3(BRIP1):c.991A>T (p.Met331Leu)

SNV
Germline

Chr17:61801402

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group J
Familial cancer of breast
Fanconi anemia complementation group J
Familial cancer of breast
Condition: not provided

Criteria Provided
Conflicting Classifications

CA400484162

rs_1380876424

6 SubmittersRCV000575763 RCV000709555 RCV000794975 RCV005357681 RCV004691925

NM_032043.3(BRIP1):c.206-1G>T

SNV
Germline

Chr17:61857232

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA400485634

rs_1555617934

5 SubmittersRCV000563712 RCV000693188 RCV001755942

NM_007194.4(CHEK2):c.1435G>T (p.Glu479Ter)

SNV
Germline

Chr22:28694058

Pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA411094167

rs_1555913106

3 SubmittersRCV000569419 RCV000635927

NM_007194.4(CHEK2):c.1588G>A (p.Ala530Thr)

SNV
Germline

Chr22:28687941

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Hereditary nonpolyposis colon cancer

Criteria Provided
Conflicting Classifications

CA411091194

rs_1444665408

7 SubmittersRCV000563374 RCV000692487 RCV002259352 RCV005367420

NM_007194.4(CHEK2):c.1516A>G (p.Thr506Ala)

SNV
Germline

Chr22:28689161

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA411092366

rs_1555912010

2 SubmittersRCV000562187 RCV002526828

NM_000546.6(TP53):c.772G>T (p.Glu258Ter)

SNV
Germline/somatic

Chr17:7674191

Pathogenic

Hereditary cancer-predisposing syndrome
Ovarian neoplasm
Li-Fraumeni syndrome 1
Li-Fraumeni syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA397837685

rs_121912652

6 SubmittersRCV000565601 RCV000785351 RCV002289838 RCV003767233 RCV005898531

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_007194.4(CHEK2):c.1008+2T>G

SNV
Germline

Chr22:28699836

Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast
CHEK2-related cancer predisposition
Familial prostate cancer
Bone osteosarcoma

Criteria Provided
Multiple Submitters
No Conflicts

CA411099208

rs_1555915295

7 SubmittersRCV000575839 RCV000709597 RCV005027662

NM_007194.4(CHEK2):c.961G>T (p.Glu321Ter)

SNV
Germline

Chr22:28699885

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA411099812

rs_1555915433

4 SubmittersRCV000568296 RCV003335491

NM_007194.4(CHEK2):c.909-1G>A

SNV
Germline

Chr22:28699938

Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA411100223

rs_886039721

5 SubmittersRCV000567556 RCV000794944

NM_007194.4(CHEK2):c.908+5G>A

SNV
Germline

Chr22:28703500

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
CHEK2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA658656845

rs_1064796016

5 SubmittersRCV000562595 RCV001221575 RCV004776439

NM_007194.4(CHEK2):c.657A>C (p.Glu219Asp)

SNV
Germline

Chr22:28719421

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA411104932

rs_1222043566

2 SubmittersRCV000574277 RCV001037457

NM_007194.4(CHEK2):c.1195G>T (p.Val399Phe)

SNV
Germline

Chr22:28695774

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA411096785

rs_876658682

2 SubmittersRCV000568640 RCV003607312

NM_007194.4(CHEK2):c.960A>T (p.Lys320Asn)

SNV
Germline

Chr22:28699886

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA411099816

rs_1237880782

3 SubmittersRCV000562481 RCV002527982

NM_007194.4(CHEK2):c.478A>C (p.Ile160Leu)

SNV
Germline

Chr22:28725091

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA411107611

rs_876659950

3 SubmittersRCV000562747 RCV001340655

NM_007194.4(CHEK2):c.909G>A (p.Leu303=)

SNV
Germline

Chr22:28699937

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA513945060

rs_786202256

2 SubmittersRCV000567710 RCV001858096

NM_007194.4(CHEK2):c.629C>G (p.Ser210Ter)

SNV
Germline

Chr22:28719449

Pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA411105055

rs_767253467

3 SubmittersRCV000570312 RCV001858193

NM_007194.4(CHEK2):c.684-1G>A

SNV
Germline/somatic

Chr22:28712018

Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Breast and/or ovarian cancer
Gastric cancer
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA411103528

rs_1298667185

8 SubmittersRCV000567692 RCV000806075 RCV001270938 RCV003159957 RCV004719877

NM_007194.4(CHEK2):c.529A>T (p.Lys177Ter)

SNV
Germline

Chr22:28725040

Pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA323033023

rs_796389290

4 SubmittersRCV000565297 RCV000700074

NM_007194.4(CHEK2):c.87A>G (p.Gln29=)

SNV
Germline

Chr22:28734635

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA322998844

rs_951525447

4 SubmittersRCV000567579 RCV000978906

NM_007194.4(CHEK2):c.56C>G (p.Ser19Ter)

SNV
Germline

Chr22:28734666

Pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA411091826

rs_1555932877

3 SubmittersRCV000562079 RCV001055511

NM_007194.4(CHEK2):c.401A>G (p.Asp134Gly)

SNV
Germline

Chr22:28725286

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
CHEK2-related disorder

Criteria Provided
Conflicting Classifications

CA411108009

rs_1404473412

3 SubmittersRCV000568579 RCV001248007 RCV004527662

NM_007194.4(CHEK2):c.372C>A (p.Cys124Ter)

SNV
Germline

Chr22:28725315

Pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA411108111

rs_1555927291

2 SubmittersRCV000573147 RCV006463362

NM_007194.4(CHEK2):c.320-5T>C

SNV
Germline

Chr22:28725372

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA658656842

rs_121908700

4 SubmittersRCV000566443 RCV001269219 RCV001503041

NM_007194.4(CHEK2):c.319+1G>A

SNV
Germline

Chr22:28734402

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Breast cancer, susceptibility to
Prostate cancer susceptibility
CHEK2-related disorder
CHEK2-related cancer predisposition
Bone osteosarcoma
Familial prostate cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA10168045

rs_765080766

9 SubmittersRCV000573370 RCV000635773 RCV001258068 RCV004737837 RCV005398885

NM_007194.4(CHEK2):c.*2C>T

SNV
Germline

Chr22:28687895

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA658656802

rs_1555911522

2 SubmittersRCV000575604 RCV005248290

NM_007194.4(CHEK2):c.1008+1G>A

SNV
Germline

Chr22:28699837

Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Inherited prostate cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA411099240

rs_1555915298

6 SubmittersRCV000564808 RCV000804027 RCV006438424

NM_007194.4(CHEK2):c.908T>A (p.Leu303Ter)

SNV
Germline

Chr22:28703505

Pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA411100884

rs_1233699096

4 SubmittersRCV000563054 RCV001284625 RCV003335487

NM_007194.4(CHEK2):c.846+3A>G

SNV
Germline

Chr22:28710003

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided

Criteria Provided
Conflicting Classifications

CA658656851

rs_1476026799

4 SubmittersRCV000564553 RCV000814139 RCV003237932

NM_007194.4(CHEK2):c.592G>C (p.Val198Leu)

SNV
Germline

Chr22:28724977

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
CHEK2-related disorder

Criteria Provided
Conflicting Classifications

CA411106892

rs_1555926708

5 SubmittersRCV000576138 RCV000686285 RCV004530602

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_000465.4(BARD1):c.1939C>T (p.Gln647Ter)

SNV
Unknown

Chr2:214730473

Pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA350451210

rs_1350570988

2 SubmittersRCV000576422

NM_024675.4(PALB2):c.866T>A (p.Leu289Ter)

SNV
Unknown

Chr16:23635680

Pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA395135804

rs_1555461574

2 SubmittersRCV000576557

NM_032043.3(BRIP1):c.2867C>G (p.Ser956Ter)

SNV
Germline

Chr17:61685874

Pathogenic

Familial cancer of breast
Fanconi anemia complementation group J
Ovarian cancer
Fanconi anemia complementation group J

Criteria Provided
Single Submitter

CA8690445

rs_761639530

2 SubmittersRCV001853824 RCV005430371

NM_032043.3(BRIP1):c.2830C>T (p.Gln944Ter)

SNV
Germline

Chr17:61685911

Pathogenic

Familial cancer of breast
Fanconi anemia complementation group J
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group J
Ovarian cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA8690450

rs_140233356

4 SubmittersRCV001853825 RCV003302896 RCV003335527 RCV005430372

NM_032043.3(BRIP1):c.40A>T (p.Lys14Ter)

SNV
Germline

Chr17:61861500

Pathogenic

Hereditary cancer-predisposing syndrome
Ovarian cancer
Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA400486016

rs_1555618727

3 SubmittersRCV001021864 RCV005430369 RCV003316749

NM_007194.4(CHEK2):c.909-2A>G

SNV
Germline

Chr22:28699939

Likely pathogenic

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
Bone osteosarcoma

Criteria Provided
Multiple Submitters
No Conflicts

CA411100226

rs_1555915589

7 SubmittersRCV000576712 RCV000584150 RCV003886415 RCV004732484

NM_000051.4(ATM):c.331+1G>A

SNV
Germline

Chr11:108229324

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA382521837

rs_1555055356

8 SubmittersRCV000576405 RCV000777474 RCV000788912 RCV003459414

NM_000051.4(ATM):c.8725A>T (p.Arg2909Ter)

SNV
Germline

Chr11:108353819

Pathogenic/Likely pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382523884

rs_1555142845

5 SubmittersRCV000576664 RCV002448810 RCV003459413

NM_015046.7(SETX):c.5949+5G>A

SNV
Germline

Chr9:132296882

Conflicting classifications of pathogenicity

Amyotrophic lateral sclerosis type 4
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Condition: not provided
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Amyotrophic lateral sclerosis type 4
Hereditary spastic paraplegia
not specified
Inborn genetic diseases
SETX-related disorder
Ovarian serous cystadenocarcinoma
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA5296870

rs_374656811

12 SubmittersRCV000644836 RCV000713224 RCV001169651 RCV001165667 RCV001848978 RCV001706679 RCV002358638 RCV004530626 RCV005898549 RCV005898548

NM_007194.4(CHEK2):c.612G>T (p.Leu204=)

SNV
Germline

Chr22:28719466

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Familial cancer of breast
Breast and/or ovarian cancer
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA501023

rs_752876192

9 SubmittersRCV000579370 RCV000780179 RCV001443690 RCV001798901 RCV002257848

NM_000465.4(BARD1):c.211T>A (p.Cys71Ser)

SNV
Germline

Chr2:214797065

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA350462140

rs_1060501308

5 SubmittersRCV000580172 RCV001284527 RCV001853863

NM_000051.4(ATM):c.5G>A (p.Ser2Asn)

SNV
Germline

Chr11:108227629

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA382518922

rs_730881360

7 SubmittersRCV000579727 RCV000821860 RCV001569149 RCV004568254 RCV004689801

NM_000051.4(ATM):c.5319+7T>A

SNV
Germline

Chr11:108301796

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast
ATM-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA228387683

rs_925428128

6 SubmittersRCV000579917 RCV000628276 RCV004592785 RCV004553294 RCV005000335

NM_000051.4(ATM):c.921A>T (p.Lys307Asn)

SNV
Germline

Chr11:108246983

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast
Familial cancer of breast
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

CA382530569

rs_1555068322

6 SubmittersRCV000579525 RCV000822799 RCV003465290 RCV005044864

NM_000051.4(ATM):c.5675-13T>A

SNV
Germline

Chr11:108307884

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6265754

rs_373219694

5 SubmittersRCV000581032 RCV001811082 RCV002060551 RCV005398925

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_000051.4(ATM):c.5994A>T (p.Gly1998=)

SNV
Germline

Chr11:108312486

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6265812

rs_56046250

5 SubmittersRCV000580862 RCV000829167 RCV000807523 RCV004592786

NM_000051.4(ATM):c.6203T>C (p.Leu2068Ser)

SNV
Germline

Chr11:108317377

Likely pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382551029

rs_1555114558

8 SubmittersRCV000579619 RCV000779043 RCV003336057

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.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_024675.4(PALB2):c.1595C>T (p.Pro532Leu)

SNV
Germline

Chr16:23634951

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA395130543

rs_1555461202

4 SubmittersRCV000580022 RCV001755967 RCV001853886

NM_024675.4(PALB2):c.1538C>T (p.Thr513Ile)

SNV
Germline

Chr16:23635008

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7963699

rs_778890869

5 SubmittersRCV000580586 RCV000635783 RCV001030236

NM_024675.4(PALB2):c.1130A>C (p.Gln377Pro)

SNV
Germline

Chr16:23635416

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
not specified
Fanconi anemia complementation group N
Familial cancer of breast
Pancreatic cancer, susceptibility to, 3

Criteria Provided
Conflicting Classifications

CA395133650

rs_1358484245

6 SubmittersRCV000579536 RCV000635851 RCV001821698 RCV002476263

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_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_024675.4(PALB2):c.1684+11A>G

SNV
Germline

Chr16:23634851

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group N
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA7963684

rs_201368043

3 SubmittersRCV000580824 RCV001121720 RCV001860051

NM_024675.4(PALB2):c.109-12T>A

SNV
Germline

Chr16:23637964

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
PALB2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA7963843

rs_774949203

8 SubmittersRCV000579887 RCV001030120 RCV000794723 RCV005357727

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_024675.4(PALB2):c.2500C>T (p.His834Tyr)

SNV
Germline

Chr16:23629654

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA395123962

rs_1555460308

3 SubmittersRCV000579392 RCV001853887

NM_024675.4(PALB2):c.1772C>A (p.Pro591Gln)

SNV
Germline

Chr16:23630382

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA7963662

rs_761773470

4 SubmittersRCV000581038 RCV000809631

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_000465.4(BARD1):c.2143C>T (p.Gln715Ter)

SNV
Germline

Chr2:214728867

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA350450495

rs_1553612164

5 SubmittersRCV000581178 RCV003320707 RCV003336065

NM_000465.4(BARD1):c.2151C>T (p.Ile717=)

SNV
Germline

Chr2:214728859

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA431393473

rs_1553612158

3 SubmittersRCV000582389 RCV004773033 RCV004787970

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_000465.4(BARD1):c.1156G>T (p.Glu386Ter)

SNV
Germline

Chr2:214780718

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Gastric cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA350453942

rs_1553622218

5 SubmittersRCV000582795 RCV002529209 RCV003159979

NM_000251.3(MSH2):c.2635-11A>G

SNV
Germline

Chr2:47482768

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary nonpolyposis colorectal neoplasms
not specified
Lynch syndrome 1
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA037106

rs_201291595

7 SubmittersRCV000583741 RCV001683596 RCV002061842 RCV003320710 RCV005422747 RCV005357753

NM_000051.4(ATM):c.1800C>T (p.His600=)

SNV
Germline

Chr11:108252029

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Familial cancer of breast
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

CA6264868

rs_750715942

5 SubmittersRCV000583999 RCV000588595 RCV003465297 RCV003500569

NM_000051.4(ATM):c.2251-3T>C

SNV
Germline

Chr11:108257478

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6264988

rs_752951518

5 SubmittersRCV000582636 RCV001059458 RCV004592812 RCV004592813

NM_000051.4(ATM):c.2262A>G (p.Gln754=)

SNV
Germline

Chr11:108257492

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA6264989

rs_778320952

6 SubmittersRCV000582538 RCV000702900 RCV004592815

NM_000051.4(ATM):c.2376+1G>A

SNV
Germline

Chr11:108257607

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA382540432

rs_730881347

8 SubmittersRCV000583695 RCV001224699 RCV001726253 RCV003465298 RCV005044866

NM_000051.4(ATM):c.2791A>G (p.Ile931Val)

SNV
Germline

Chr11:108268562

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA382545614

rs_1308253602

4 SubmittersRCV000583109 RCV000821489 RCV003465300

NM_000051.4(ATM):c.2465T>A (p.Leu822Ter)

SNV
Germline

Chr11:108259074

Pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Malignant tumor of breast
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382541426

rs_1442299125

5 SubmittersRCV000581413 RCV001860063 RCV003403371 RCV004024630

NM_000051.4(ATM):c.2838+10G>A

SNV
Germline

Chr11:108268619

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA658683757

rs_1555083482

4 SubmittersRCV000600988 RCV000582058 RCV000925335 RCV004592824

NM_000051.4(ATM):c.2467-2A>C

SNV
Germline

Chr11:108267169

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA382543075

rs_1555082050

6 SubmittersRCV000583860 RCV000672642 RCV004024631

NM_000051.4(ATM):c.2734C>T (p.Gln912Ter)

SNV
Germline

Chr11:108268505

Pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA6265104

rs_764409952

4 SubmittersRCV000583244 RCV001232394 RCV004024632

NM_000051.4(ATM):c.471T>A (p.Cys157Ter)

SNV
Germline

Chr11:108235809

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Ataxia-telangiectasia syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA382525531

rs_1555059459

2 SubmittersRCV000584528 RCV002497227

NM_000051.4(ATM):c.3994-2A>C

SNV
Germline

Chr11:108287598

Likely pathogenic

Hereditary cancer-predisposing syndrome
ATM-related disorder
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382527395

rs_587782276

4 SubmittersRCV000581173 RCV004553298 RCV003451298

NM_000051.4(ATM):c.3576G>T (p.Lys1192Asn)

SNV
Germline

Chr11:108281168

Likely pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382520816

rs_587776551

4 SubmittersRCV000583698 RCV001241162 RCV004024633

NM_000051.4(ATM):c.3747-16A>G

SNV
Germline

Chr11:108284211

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA658683111

rs_1555093241

4 SubmittersRCV000583850 RCV000608511 RCV001860064 RCV003471927

NM_000051.4(ATM):c.2251-6C>T

SNV
Germline

Chr11:108257475

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA658683740

rs_1555075617

2 SubmittersRCV000584093 RCV004592814

NM_000051.4(ATM):c.4237-8T>C

SNV
Germline

Chr11:108289594

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6265428

rs_750427647

6 SubmittersRCV000581253 RCV000628247 RCV000842153 RCV004592840 RCV005231124

NM_000051.4(ATM):c.6615G>A (p.Trp2205Ter)

SNV
Germline

Chr11:108325352

Pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Ataxia-telangiectasia syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382554733

rs_1555119041

4 SubmittersRCV000583749 RCV000762826 RCV001853900 RCV004024641

NM_000051.4(ATM):c.2839-7A>G

SNV
Germline

Chr11:108271057

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA602132590

rs_1445472389

5 SubmittersRCV000582384 RCV000613445 RCV001499375 RCV004592825

NM_000051.4(ATM):c.2922-1G>T

SNV
Germline

Chr11:108271250

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382547064

rs_1555084931

6 SubmittersRCV000581238 RCV000667991 RCV003451297

NM_000051.4(ATM):c.6453-15C>T

SNV
Germline

Chr11:108321286

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA6265948

rs_763296454

6 SubmittersRCV000581693 RCV000603363 RCV001107551 RCV004592869

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_000051.4(ATM):c.6808-6T>C

SNV
Germline

Chr11:108326052

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided

Criteria Provided
Conflicting Classifications

CA228412512

rs_995574419

3 SubmittersRCV000583200 RCV004592872 RCV005252973

NM_000051.4(ATM):c.1899-1G>A

SNV
Germline

Chr11:108253813

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382536246

rs_1555073065

3 SubmittersRCV000581303 RCV002529179 RCV004024628

NM_000051.4(ATM):c.8152-2A>G

SNV
Germline

Chr11:108335843

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA6266312

rs_777602049

3 SubmittersRCV000581351 RCV002529202 RCV004024642

NM_000051.4(ATM):c.8213T>G (p.Leu2738Ter)

SNV
Germline

Chr11:108335906

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA6266318

rs_773889320

3 SubmittersRCV000581268 RCV003465305

NM_000051.4(ATM):c.6347+6A>C

SNV
Germline

Chr11:108317527

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6265909

rs_750501197

5 SubmittersRCV000583289 RCV000801369 RCV001704690 RCV005357736

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_000051.4(ATM):c.5919-8A>G

SNV
Germline

Chr11:108312403

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA601724120

rs_1176654682

4 SubmittersRCV000584075 RCV000937254 RCV004592859 RCV006260353

NM_000051.4(ATM):c.6181C>T (p.Gln2061Ter)

SNV
Germline

Chr11:108316096

Pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382550728

rs_1555113845

5 SubmittersRCV000583766 RCV001381514 RCV004024639

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_000051.4(ATM):c.6572+11C>T

SNV
Germline

Chr11:108321431

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6265970

rs_368049107

6 SubmittersRCV000584458 RCV001662627 RCV002061675 RCV006273930 RCV005357737

NM_000051.4(ATM):c.7013T>C (p.Leu2338Pro)

SNV
Germline

Chr11:108327682

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA382558722

rs_1555120997

3 SubmittersRCV000583313 RCV003465304

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_024675.4(PALB2):c.211+1G>A

SNV
Germline

Chr16:23637849

Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 5

Criteria Provided
Multiple Submitters
No Conflicts

CA395139005

rs_1555462026

8 SubmittersRCV000581906 RCV000989582 RCV002466544 RCV005357759

NM_000051.4(ATM):c.8419-8A>G

SNV
Germline

Chr11:108345735

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6266369

rs_567215034

5 SubmittersRCV000583342 RCV000628209 RCV001549526 RCV001821699 RCV004592887

NM_000051.4(ATM):c.8546G>C (p.Arg2849Pro)

SNV
Germline

Chr11:108345870

Likely pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast
Condition: not provided
ATM-related cancer predisposition

Reviewed By Expert Panel

CA382518439

rs_587782202

8 SubmittersRCV000582030 RCV000805253 RCV002221560 RCV002280130 RCV005638510

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_024675.4(PALB2):c.3166C>T (p.Gln1056Ter)

SNV
Germline

Chr16:23614039

Pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Gastric cancer
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA279530832

rs_1021662947

8 SubmittersRCV000581301 RCV001038568 RCV003159983 RCV005256644

NM_024675.4(PALB2):c.2996+14T>G

SNV
Germline

Chr16:23622955

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group N
Familial cancer of breast
PALB2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA621661650

rs_1407045774

4 SubmittersRCV000583916 RCV001116751 RCV002061896 RCV005357760

NM_024675.4(PALB2):c.1227T>C (p.Tyr409=)

SNV
Germline

Chr16:23635319

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA494461670

rs_1555461386

8 SubmittersRCV000581501 RCV000600139 RCV000759892 RCV001451262

NM_024675.4(PALB2):c.3350+2C>G

SNV
Germline

Chr16:23607862

Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA395139182

rs_1555458171

5 SubmittersRCV000582943 RCV001361268

NM_024675.4(PALB2):c.3113+17G>T

SNV
Germline

Chr16:23621345

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA621356238

rs_1451806881

4 SubmittersRCV000581411 RCV000609993 RCV001853933

NM_024675.4(PALB2):c.2515-7T>G

SNV
Germline

Chr16:23629282

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA658683922

rs_1555460231

3 SubmittersRCV000582208 RCV002530804

NM_024675.4(PALB2):c.1301A>C (p.Asp434Ala)

SNV
Germline

Chr16:23635245

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA7963721

rs_757972600

3 SubmittersRCV000581417 RCV001345251

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_024675.4(PALB2):c.303T>G (p.Asp101Glu)

SNV
Germline

Chr16:23636243

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA395138797

rs_1417779335

6 SubmittersRCV000583166 RCV001800806 RCV005019008 RCV005630325 RCV006463444

NM_004360.5(CDH1):c.687+92T>A

SNV
Germline

Chr16:68808940

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Endometrial carcinoma
Hereditary diffuse gastric adenocarcinoma
Ovarian cancer
Familial cancer of breast
Blepharocheilodontic syndrome 1

Criteria Provided
Conflicting Classifications

CA623574739

rs_1303357315

3 SubmittersRCV000583935 RCV000679581 RCV005398932

NM_004360.5(CDH1):c.1711+7G>A

SNV
Germline

Chr16:68819432

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary diffuse gastric adenocarcinoma
Condition: not provided
Hereditary diffuse gastric adenocarcinoma
Familial cancer of breast
Ovarian cancer
Blepharocheilodontic syndrome 1
Endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA658683958

rs_762005138

5 SubmittersRCV000582253 RCV001496837 RCV003478314 RCV005398931

NM_024675.4(PALB2):c.2749-1G>T

SNV
Germline

Chr16:23624095

Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA16609292

rs_1060502804

4 SubmittersRCV000581632 RCV000824261

NM_024675.4(PALB2):c.2673C>A (p.Cys891Ter)

SNV
Germline

Chr16:23626311

Pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA395122040

rs_78179744

5 SubmittersRCV000582849 RCV002529275

NM_024675.4(PALB2):c.2464C>T (p.Gln822Ter)

SNV
Germline

Chr16:23629690

Pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA395124102

rs_1555460323

5 SubmittersRCV000581596 RCV002268211 RCV003451307

NM_024675.4(PALB2):c.2437A>C (p.Ile813Leu)

SNV
Germline

Chr16:23629717

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7963574

rs_766396469

4 SubmittersRCV000584188 RCV000699252 RCV001567582

NM_024675.4(PALB2):c.1940A>T (p.His647Leu)

SNV
Germline

Chr16:23630214

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA395127436

rs_1055533509

5 SubmittersRCV000582747 RCV000695699 RCV001755976 RCV002282244

NM_024675.4(PALB2):c.1685-7T>G

SNV
Germline

Chr16:23630476

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
not specified

Criteria Provided
Conflicting Classifications

CA658683933

rs_1555460705

5 SubmittersRCV000582581 RCV000663169 RCV004767419

NM_032043.3(BRIP1):c.2493-11A>G

SNV
Germline

Chr17:61693523

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA292270156

rs_890923836

5 SubmittersRCV000581242 RCV001704691 RCV002061781 RCV004787984

NM_032043.3(BRIP1):c.1691T>C (p.Ile564Thr)

SNV
Germline

Chr17:61780943

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group J

Criteria Provided
Conflicting Classifications

CA292282224

rs_755635967

3 SubmittersRCV000581220 RCV000686260

NM_032043.3(BRIP1):c.1126C>T (p.Gln376Ter)

SNV
Germline

Chr17:61801267

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group J
Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA292286062

rs_1028347439

7 SubmittersRCV000581764 RCV001234227 RCV001783084 RCV003336067

NM_032043.3(BRIP1):c.3275C>A (p.Pro1092Gln)

SNV
Germline

Chr17:61683771

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group J
Condition: not provided
Hereditary cancer

Criteria Provided
Conflicting Classifications

CA400479077

rs_587780830

5 SubmittersRCV000581888 RCV000636141 RCV004722954 RCV005235441

NM_032043.3(BRIP1):c.1725A>G (p.Lys575=)

SNV
Germline

Chr17:61780909

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Fanconi anemia complementation group J

Criteria Provided
Conflicting Classifications

CA501150511

rs_1555602537

3 SubmittersRCV000583955 RCV001755972 RCV001853913

NM_032043.3(BRIP1):c.1474-10T>C

SNV
Germline

Chr17:61784434

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group J

Criteria Provided
Conflicting Classifications

CA658684163

rs_1555603645

2 SubmittersRCV000583825 RCV002530793

NM_032043.3(BRIP1):c.1140+1G>A

SNV
Germline

Chr17:61801252

Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA400483848

rs_1555607628

4 SubmittersRCV000583292 RCV000636063 RCV004568292

NM_032043.3(BRIP1):c.14G>A (p.Trp5Ter)

SNV
Germline

Chr17:61861526

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group J

Criteria Provided
Multiple Submitters
No Conflicts

CA400486072

rs_1555618738

2 SubmittersRCV000583347 RCV003767301

NM_007194.4(CHEK2):c.1461+3G>A

SNV
Germline

Chr22:28694029

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA658684269

rs_1555913067

3 SubmittersRCV000582666 RCV005248349

NM_007194.4(CHEK2):c.1096-10T>C

SNV
Germline

Chr22:28695883

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA658684245

rs_1555913946

4 SubmittersRCV000581180 RCV000876089

NM_007194.4(CHEK2):c.793-2A>G

SNV
Germline

Chr22:28710061

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast
CHEK2-related cancer predisposition
Bone osteosarcoma
Familial prostate cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA411102526

rs_1555920257

5 SubmittersRCV000583186 RCV001209317 RCV005392128

NM_007194.4(CHEK2):c.100C>T (p.Gln34Ter)

SNV
Germline

Chr22:28734622

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast
CHEK2-related cancer predisposition
Bone osteosarcoma
Familial prostate cancer
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA411091502

rs_1231012263

7 SubmittersRCV000584578 RCV000778091 RCV005034151 RCV006260864

NM_032043.3(BRIP1):c.2576-17T>C

SNV
Germline

Chr17:61686182

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Familial cancer of breast
Fanconi anemia complementation group J
Breast and/or ovarian cancer
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA658684156

rs_1057517647

6 SubmittersRCV000583092 RCV000615869 RCV002061783 RCV003150285 RCV004791614

NM_007194.4(CHEK2):c.792+1G>A

SNV
Germline

Chr22:28711908

Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Gastric cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA411103030

rs_1555921011

5 SubmittersRCV000583981 RCV000801436 RCV003159980

NM_032043.3(BRIP1):c.2218C>T (p.Gln740Ter)

SNV
Germline

Chr17:61744471

Pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Familial cancer of breast
Fanconi anemia complementation group J
Familial ovarian cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA400482947

rs_1555591361

6 SubmittersRCV000581423 RCV003336071 RCV003767302 RCV005357744

NM_032043.3(BRIP1):c.1940G>A (p.Trp647Ter)

SNV
Germline

Chr17:61776558

Pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group J

Criteria Provided
Multiple Submitters
No Conflicts

CA400478643

rs_1555601203

2 SubmittersRCV000584404 RCV005223011

NM_007194.4(CHEK2):c.1095+1G>T

SNV
Germline

Chr22:28696900

Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA411097406

rs_768172525

4 SubmittersRCV000583746 RCV002530795

NM_007194.4(CHEK2):c.1009-14G>C

SNV
Germline

Chr22:28697001

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA658684246

rs_1172442364

3 SubmittersRCV000581660 RCV003607329

NM_007194.4(CHEK2):c.757A>T (p.Lys253Ter)

SNV
Germline

Chr22:28711944

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast
CHEK2-related cancer predisposition
CHEK2-related cancer predisposition
Bone osteosarcoma
Familial prostate cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA411103191

rs_786201896

6 SubmittersRCV000584130 RCV001386328 RCV001788295 RCV005027687

NM_007194.4(CHEK2):c.53G>C (p.Cys18Ser)

SNV
Germline

Chr22:28734669

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA411091856

rs_151218932

3 SubmittersRCV000582495 RCV001056853

NM_007194.4(CHEK2):c.1461+1G>T

SNV
Germline

Chr22:28694031

Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA411093852

rs_886039629

4 SubmittersRCV000581207 RCV000794905

NM_007194.4(CHEK2):c.1375+2T>A

SNV
Germline

Chr22:28695125

Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA411095305

rs_1483241325

3 SubmittersRCV000582469 RCV000694321

NM_007194.4(CHEK2):c.684-3T>C

SNV
Germline

Chr22:28712020

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA658684254

rs_1555921387

4 SubmittersRCV000583713 RCV001313014

NM_001854.4(COL11A1):c.4302+2T>C

SNV
Germline

Chr1:102898123

Likely pathogenic

Condition: not provided
Hearing impairment
Hearing loss, autosomal dominant 37
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA341155113

rs_1553196233

4 SubmittersRCV000585624 RCV001375057 RCV001449578 RCV005898587

NM_000059.4(BRCA2):c.682-1G>T

SNV
Germline

Chr13:32330918

Pathogenic

Familial cancer of breast
Gastric cancer

Criteria Provided
Single Submitter

CA387759830

rs_81002831

2 SubmittersRCV000585687 RCV003159987

NM_000465.4(BARD1):c.2196C>G (p.Phe732Leu)

SNV
Germline

Chr2:214728814

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast
not specified
BARD1-related disorder

Criteria Provided
Conflicting Classifications

CA350450272

rs_1553612117

7 SubmittersRCV000589232 RCV000772491 RCV001214902 RCV004586811 RCV004740346

NM_000059.4(BRCA2):c.5260G>A (p.Asp1754Asn)

SNV
Germline

Chr13:32339615

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Breast and/or ovarian cancer
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA387784724

rs_771571938

5 SubmittersRCV000589225 RCV000773243 RCV003492113 RCV005411496

NM_000051.4(ATM):c.157A>T (p.Lys53Ter)

SNV
Germline

Chr11:108227860

Pathogenic/Likely pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382520363

rs_876659078

4 SubmittersRCV000588106 RCV002404590 RCV004024668

NM_000051.4(ATM):c.1901A>T (p.Glu634Val)

SNV
Germline

Chr11:108253816

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA382536268

rs_1555073069

4 SubmittersRCV000586643 RCV001860116 RCV003465321 RCV002413661

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.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_024675.4(PALB2):c.413A>C (p.Glu138Ala)

SNV
Germline

Chr16:23636133

Conflicting classifications of pathogenicity

Condition: not provided
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA395137358

rs_1322095182

3 SubmittersRCV000586801 RCV000814273 RCV005692223

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.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_007194.4(CHEK2):c.1259+1G>A

SNV
Germline

Chr22:28695709

Likely pathogenic

Li-Fraumeni syndrome
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA411096478

rs_121908707

4 SubmittersRCV000587596 RCV001860142 RCV002431744

NM_004360.5(CDH1):c.2446A>T (p.Lys816Ter)

SNV
Germline

Chr16:68833296

Likely pathogenic

Hereditary cancer-predisposing syndrome
Hereditary diffuse gastric adenocarcinoma
CDH1-related diffuse gastric and lobular breast cancer syndrome
Familial cancer of breast

Reviewed By Expert Panel

CA396471960

rs_1555518211

4 SubmittersRCV000593954 RCV000639208 RCV003328437 RCV003471949

NM_198525.3(KIF7):c.2191+7C>T

SNV
Germline

Chr15:89645006

Conflicting classifications of pathogenicity

Condition: not provided
Acrocallosal syndrome
Acrocallosal syndrome
Multiple epiphyseal dysplasia, Al-Gazali type
Hydrolethalus syndrome 2
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA7728296

rs_371970440

4 SubmittersRCV000596660 RCV001854054 RCV002476314 RCV005898700

NM_138694.4(PKHD1):c.7734-6C>A

SNV
Germline

Chr6:51856076

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive polycystic kidney disease
not specified
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA3851847

rs_367564272

5 SubmittersRCV000591197 RCV001088505 RCV001174777 RCV005898737

NM_000379.4(XDH):c.1686+1G>C

SNV
Germline

Chr2:31373872

Conflicting classifications of pathogenicity

Hereditary xanthinuria type 1
Xanthinuria type II
Condition: not provided
Ovarian serous cystadenocarcinoma
Familial cancer of breast
XDH-related disorder

Criteria Provided
Conflicting Classifications

CA1599136

rs_148412639

9 SubmittersRCV000616942 RCV000685712 RCV003156264 RCV005898776 RCV005898775 RCV004730996

NM_000546.6(TP53):c.672+2T>A

SNV
Germline

Chr17:7674857

Likely pathogenic

Li-Fraumeni syndrome
Condition: not provided
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA397839761

rs_1555525703

4 SubmittersRCV000609770 RCV001613395 RCV005900059 RCV006287209

NM_001851.6(COL9A1):c.1665+5G>T

SNV
Germline

Chr6:70254958

Conflicting classifications of pathogenicity

Condition: not provided
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA3882089

rs_369698214

3 SubmittersRCV001065737 RCV005899930

NM_000051.4(ATM):c.4437-3T>C

SNV
Germline

Chr11:108292616

Conflicting classifications of pathogenicity

not specified
Familial cancer of breast
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

CA658795366

rs_1555099722

3 SubmittersRCV000614931 RCV004592931 RCV005091652

NM_000051.4(ATM):c.5919-13T>C

SNV
Germline

Chr11:108312398

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA658797761

rs_1555111740

4 SubmittersRCV001525232 RCV001821736 RCV002062995 RCV004592912

NM_018109.4(MTPAP):c.1313-3C>T

SNV
Germline

Chr10:30316039

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Familial cancer of breast
Acute myeloid leukemia

Criteria Provided
Conflicting Classifications

CA5458980

rs_201064853

4 SubmittersRCV000604613 RCV001698427 RCV005899971 RCV005899972

NM_000051.4(ATM):c.7090-14G>A

SNV
Germline

Chr11:108329007

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA658797766

rs_1486032156

4 SubmittersRCV000610451 RCV001181867 RCV002065238 RCV004592928

NM_000051.4(ATM):c.7794A>C (p.Arg2598=)

SNV
Germline

Chr11:108332767

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA476677312

rs_1555125220

5 SubmittersRCV000604474 RCV001026813 RCV000927280 RCV004592942 RCV005000384

NM_000051.4(ATM):c.1236-3T>C

SNV
Germline

Chr11:108250698

Conflicting classifications of pathogenicity

not specified
Ataxia-telangiectasia syndrome
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA658797786

rs_763976313

4 SubmittersRCV000615725 RCV000808804 RCV004592914 RCV004024920

NM_000051.4(ATM):c.2748G>T (p.Val916=)

SNV
Germline

Chr11:108268519

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Ovarian serous cystadenocarcinoma
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA228407709

rs_1050470790

6 SubmittersRCV000627946 RCV001016478 RCV004719097 RCV005899922 RCV004592936

NM_000293.3(PHKB):c.574A>G (p.Ile192Val)

SNV
Germline

Chr16:47515581

Conflicting classifications of pathogenicity

not specified
Glycogen storage disease IXb
Condition: not provided
PHKB-related disorder
Uterine corpus endometrial carcinoma
Lung cancer
Malignant tumor of esophagus
Familial cancer of breast
Clear cell carcinoma of kidney
Colon adenocarcinoma
Gastric cancer
Ovarian serous cystadenocarcinoma
Melanoma

Criteria Provided
Conflicting Classifications

CA8040532

rs_117218785

9 SubmittersRCV000603302 RCV000662068 RCV000675921 RCV003980181 RCV005900020 RCV005900019 RCV005900014 RCV005900012 RCV005900015 RCV005900013 RCV005900016 RCV005900017 RCV005900018

NM_032043.3(BRIP1):c.1794+6C>T

SNV
Germline

Chr17:61780834

Conflicting classifications of pathogenicity

not specified
Familial cancer of breast
Familial cancer of breast
Fanconi anemia complementation group J

Criteria Provided
Conflicting Classifications

CA658798938

rs_1429375125

3 SubmittersRCV000612963 RCV004788026 RCV003767696

NM_032043.3(BRIP1):c.3710C>A (p.Ser1237Tyr)

SNV
Germline

Chr17:61683336

Conflicting classifications of pathogenicity

not specified
Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA400477772

rs_587781819

2 SubmittersRCV000606452 RCV001860262

NM_000053.4(ATP7B):c.1285+5G>T

SNV
Germline

Chr13:51973930

Conflicting classifications of pathogenicity

Inborn genetic diseases
Condition: not provided
Wilson disease
ATP7B-related disorder
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA6989401

rs_370579582

20 SubmittersRCV000624233 RCV000996144 RCV001004593 RCV003980208 RCV005900080

NM_172364.5(CACNA2D4):c.2891C>T (p.Ala964Val)

SNV
Germline

Chr12:1800416

Conflicting classifications of pathogenicity

Retinal cone dystrophy 4
Condition: not provided
not specified
Gastric cancer
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA6386154

rs_201325274

8 SubmittersRCV000625485 RCV000971584 RCV001700279 RCV005900090 RCV005900089

NM_024675.4(PALB2):c.1597A>G (p.Thr533Ala)

SNV
Germline

Chr16:23634949

Conflicting classifications of pathogenicity

Breast carcinoma
Familial cancer of breast
Malignant tumor of breast
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA395130540

rs_1393117824

6 SubmittersRCV000626962 RCV000815815 RCV001356890 RCV001012327 RCV003478331

NM_000465.4(BARD1):c.2323C>T (p.Leu775Phe)

SNV
Germline

Chr2:214728687

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA350449663

rs_1553612005

3 SubmittersRCV000635610 RCV001175701

NM_000465.4(BARD1):c.2001+1G>A

SNV
Germline

Chr2:214730410

Likely pathogenic

Familial cancer of breast
BARD1-related cancer predisposition
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA350451082

rs_768490891

5 SubmittersRCV000635869 RCV005601058 RCV004773053 RCV006367172

NM_000465.4(BARD1):c.1300A>T (p.Ile434Phe)

SNV
Germline

Chr2:214780574

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA2090311

rs_758049210

5 SubmittersRCV000635821 RCV000774682

NM_000465.4(BARD1):c.934A>T (p.Lys312Ter)

SNV
Germline

Chr2:214780940

Pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA350454958

rs_1060501291

1 SubmittersRCV000635938

NM_000465.4(BARD1):c.400A>C (p.Asn134His)

SNV
Germline

Chr2:214781474

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA350458077

rs_876660852

2 SubmittersRCV000635874 RCV002377379

NM_000465.4(BARD1):c.163A>G (p.Asn55Asp)

SNV
Germline

Chr2:214797113

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA350462329

rs_1039799564

3 SubmittersRCV000635695 RCV002388038 RCV005000413

NM_000465.4(BARD1):c.1168C>A (p.Leu390Ile)

SNV
Germline

Chr2:214780706

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA350453886

rs_774439137

3 SubmittersRCV000635932 RCV004948499

NM_000465.4(BARD1):c.158+1G>T

SNV
Germline

Chr2:214809411

Likely pathogenic

Familial cancer of breast
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA350464686

rs_1553628351

5 SubmittersRCV000635701 RCV001569395

NM_000465.4(BARD1):c.632T>G (p.Leu211Ter)

SNV
Germline

Chr2:214781242

Pathogenic/Likely pathogenic

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA350456640

rs_762171436

4 SubmittersRCV000635947 RCV002360543

NM_000249.4(MLH1):c.1038+8C>A

SNV
Germline

Chr3:37020471

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Breast and/or ovarian cancer
Colorectal cancer, hereditary nonpolyposis, type 2
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA026718

rs_751872237

4 SubmittersRCV000630381 RCV003492121 RCV005248487 RCV005367468

NM_000532.5(PCCB):c.654+3A>C

SNV
Germline

Chr3:136283950

Conflicting classifications of pathogenicity

Propionic acidemia
Condition: not provided
PCCB-related disorder
Familial cancer of breast
Nonpapillary renal cell carcinoma

Criteria Provided
Conflicting Classifications

CA2631806

rs_199886085

7 SubmittersRCV000634873 RCV001637106 RCV003928063 RCV005900152 RCV005900153

NM_000051.4(ATM):c.737A>G (p.Asn246Ser)

SNV
Germline

Chr11:108244862

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6264676

rs_781023264

8 SubmittersRCV000779770 RCV000628206 RCV001311783 RCV002257863 RCV003459481

NM_000051.4(ATM):c.2434A>G (p.Met812Val)

SNV
Germline

Chr11:108259043

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Ovarian cancer
Condition: not provided
ATM-related disorder
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA228399932

rs_112357985

7 SubmittersRCV000628148 RCV001190867 RCV003153765 RCV003317304 RCV004547764 RCV005357830

NM_000051.4(ATM):c.4612G>T (p.Val1538Leu)

SNV
Germline

Chr11:108293313

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA228379070

rs_1034235291

8 SubmittersRCV000628017 RCV001562374 RCV002334041 RCV004568345

NM_000051.4(ATM):c.5178-7T>C

SNV
Germline

Chr11:108301641

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Condition: not provided
Breast and/or ovarian cancer
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA658797740

rs_1555105564

4 SubmittersRCV000628294 RCV001766333 RCV003150312 RCV004588041

NM_000051.4(ATM):c.6843C>G (p.Tyr2281Ter)

SNV
Germline

Chr11:108326093

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA382556650

rs_1555119797

4 SubmittersRCV000628154 RCV002360487 RCV004025309 RCV004721498

NM_000051.4(ATM):c.4202T>A (p.Leu1401Ter)

SNV
Germline

Chr11:108289069

Pathogenic

Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382530357

rs_1555096975

2 SubmittersRCV000628046 RCV004025302

NM_000051.4(ATM):c.7917G>A (p.Lys2639=)

SNV
Germline

Chr11:108332890

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA476677473

rs_1555125501

4 SubmittersRCV000628256 RCV004588026 RCV005000393 RCV005732137

NM_000051.4(ATM):c.5695T>C (p.Cys1899Arg)

SNV
Germline

Chr11:108307917

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA6265758

rs_373213507

5 SubmittersRCV000628014 RCV000777922 RCV004568344

NM_000051.4(ATM):c.1088C>T (p.Ser363Phe)

SNV
Germline

Chr11:108248955

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA382532358

rs_1555069560

6 SubmittersRCV000628132 RCV001189987 RCV003162775 RCV005049620

NM_000051.4(ATM):c.1501C>T (p.Gln501Ter)

SNV
Germline/somatic

Chr11:108250966

Pathogenic/Likely pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Malignant tumor of urinary bladder
Condition: not provided
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382534233

rs_1281817400

7 SubmittersRCV000627873 RCV001011901 RCV003332213 RCV003326478 RCV003451482

NM_000051.4(ATM):c.2341C>T (p.Gln781Ter)

SNV
Germline

Chr11:108257571

Pathogenic/Likely pathogenic

Ataxia-telangiectasia syndrome
Familial cancer of breast
Familial cancer of breast
Ataxia-telangiectasia syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA382540161

rs_1555075781

4 SubmittersRCV000627907 RCV002467450 RCV005044909

NM_000051.4(ATM):c.4415T>A (p.Leu1472Ter)

SNV
Germline

Chr11:108289780

Pathogenic

Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382532250

rs_772555314

2 SubmittersRCV000628130 RCV004025308

NM_000051.4(ATM):c.7220C>A (p.Ser2407Ter)

SNV
Germline

Chr11:108329151

Pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382559660

rs_1555122149

5 SubmittersRCV000627953 RCV001185806 RCV003465370

NM_000051.4(ATM):c.8403C>A (p.Cys2801Ter)

SNV
Germline

Chr11:108343356

Pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382516731

rs_1555135852

3 SubmittersRCV000628066 RCV003162774 RCV004025303

NM_000051.4(ATM):c.2677C>T (p.Gln893Ter)

SNV
Germline

Chr11:108268448

Pathogenic

Ataxia-telangiectasia syndrome
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA382545129

rs_1555083131

3 SubmittersRCV000628097 RCV003459480 RCV002438616

NM_000051.4(ATM):c.4612-8A>G

SNV
Germline

Chr11:108293305

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA658797723

rs_1555100341

3 SubmittersRCV000628302 RCV002256419 RCV004588044

NM_000051.4(ATM):c.6006+1G>C

SNV
Germline

Chr11:108312499

Pathogenic/Likely pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382548820

rs_786202016

4 SubmittersRCV000627911 RCV001185805 RCV004025296

NM_000051.4(ATM):c.6453-1G>C

SNV
Germline

Chr11:108321300

Likely pathogenic

Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382553804

rs_1555117071

2 SubmittersRCV000628171 RCV003139955

NM_000051.4(ATM):c.8786+2T>A

SNV
Germline

Chr11:108353882

Pathogenic/Likely pathogenic

Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382524492

rs_1555142918

2 SubmittersRCV000628191 RCV004025312

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.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.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.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.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_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_020937.4(FANCM):c.5791C>T (p.Arg1931Ter)

SNV
Germline

Chr14:45198718

Pathogenic/Likely pathogenic

Fanconi anemia
Spermatogenic failure 28
Malignant germ cell tumor of ovary
Familial cancer of breast
Condition: not provided
Azoospermia
not specified
Hereditary nonpolyposis colorectal carcinoma
Premature ovarian failure 15
Spermatogenic failure 28
Premature ovarian failure 15

Criteria Provided
Multiple Submitters
No Conflicts

CA7170069

rs_144567652

16 SubmittersRCV000630904 RCV000677277 RCV000722040 RCV001250442 RCV001531186 RCV001797115 RCV001821777 RCV002245059 RCV004595521 RCV005010605

NM_033028.5(BBS4):c.864G>A (p.Ala288=)

SNV
Germline

Chr15:72731457

Conflicting classifications of pathogenicity

Bardet-Biedl syndrome
Condition: not provided
Bardet-Biedl syndrome 4
Familial cancer of breast
Thyroid cancer, nonmedullary, 1

Criteria Provided
Conflicting Classifications

CA7646809

rs_141345544

4 SubmittersRCV000638350 RCV001537497 RCV002467947 RCV005900175 RCV005900176

NM_024675.4(PALB2):c.3523C>T (p.Gln1175Ter)

SNV
Germline

Chr16:23603497

Pathogenic

Familial cancer of breast
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA395137833

rs_1555457841

5 SubmittersRCV000635687 RCV001702535 RCV002334080

NM_024675.4(PALB2):c.2834+5G>A

SNV
Germline

Chr16:23624004

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
PALB2-related disorder

Criteria Provided
Conflicting Classifications

CA7963478

rs_570455216

5 SubmittersRCV000635658 RCV001016729 RCV004723006

NM_024675.4(PALB2):c.2694G>A (p.Trp898Ter)

SNV
Germline

Chr16:23626290

Pathogenic

Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA395121972

rs_1555459949

2 SubmittersRCV000635736

NM_024675.4(PALB2):c.2650G>T (p.Glu884Ter)

SNV
Germline

Chr16:23626334

Pathogenic

Familial cancer of breast
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 5

Criteria Provided
Multiple Submitters
No Conflicts

CA395122125

rs_1304351755

7 SubmittersRCV000635848 RCV000760341 RCV005416117

NM_024675.4(PALB2):c.2345C>A (p.Pro782Gln)

SNV
Germline

Chr16:23629809

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA7963590

rs_772095244

3 SubmittersRCV000635803 RCV002424398

NM_024675.4(PALB2):c.3494C>A (p.Ser1165Ter)

SNV
Germline

Chr16:23603526

Pathogenic/Likely pathogenic

Familial cancer of breast
Breast and/or ovarian cancer
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA395137923

rs_773829275

5 SubmittersRCV000635924 RCV001270994 RCV003303005

NM_024675.4(PALB2):c.2989G>T (p.Asp997Tyr)

SNV
Germline

Chr16:23622976

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA395143864

rs_1555459513

6 SubmittersRCV000635883 RCV000776383 RCV001192766 RCV004721509

NM_024675.4(PALB2):c.157G>A (p.Glu53Lys)

SNV
Germline

Chr16:23637904

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA395139231

rs_1184603042

5 SubmittersRCV000635779 RCV000709389

NM_024675.4(PALB2):c.2748+8G>A

SNV
Germline

Chr16:23626228

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 5
Condition: not provided

Criteria Provided
Conflicting Classifications

CA621661861

rs_1188895680

5 SubmittersRCV000636047 RCV001182085 RCV005357839 RCV006260921

NM_024675.4(PALB2):c.2587-7G>A

SNV
Germline

Chr16:23626404

Conflicting classifications of pathogenicity

Familial cancer of breast
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA279489186

rs_932395531

4 SubmittersRCV000635604 RCV001558518 RCV003584684

NM_024675.4(PALB2):c.1984A>T (p.Lys662Ter)

SNV
Germline

Chr16:23630170

Pathogenic

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA395127256

rs_1555460533

4 SubmittersRCV000635787 RCV001190673

NM_024675.4(PALB2):c.1685-3T>C

SNV
Germline

Chr16:23630472

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA658798577

rs_1254059410

5 SubmittersRCV000635992 RCV002404773 RCV003128674

NM_024675.4(PALB2):c.1448C>A (p.Ser483Ter)

SNV
Germline

Chr16:23635098

Pathogenic

Familial cancer of breast
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA395131234

rs_1057520736

5 SubmittersRCV000635841 RCV001591416 RCV002388041

NM_024675.4(PALB2):c.932A>G (p.Lys311Arg)

SNV
Germline

Chr16:23635614

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA7963744

rs_755129205

6 SubmittersRCV000635946 RCV001019174 RCV001030189 RCV001194138

NM_004360.5(CDH1):c.313T>A (p.Ser105Thr)

SNV
Germline

Chr16:68801819

Conflicting classifications of pathogenicity

Hereditary diffuse gastric adenocarcinoma
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA396457365

rs_1165815510

6 SubmittersRCV000639260 RCV000777364 RCV003459530

NM_024675.4(PALB2):c.2267G>A (p.Cys756Tyr)

SNV
Germline

Chr16:23629887

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA279492499

rs_925044785

8 SubmittersRCV000635807 RCV001014983 RCV001030292

NM_004360.5(CDH1):c.865G>A (p.Ala289Thr)

SNV
Germline

Chr16:68811716

Conflicting classifications of pathogenicity

Hereditary diffuse gastric adenocarcinoma
Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA396459602

rs_1255556757

6 SubmittersRCV000639266 RCV000759018 RCV000777632 RCV003459532

NM_024675.4(PALB2):c.926T>G (p.Ile309Arg)

SNV
Germline

Chr16:23635620

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA279499141

rs_201588519

4 SubmittersRCV000635796 RCV001189067 RCV006260917

NM_024675.4(PALB2):c.846A>T (p.Arg282Ser)

SNV
Germline

Chr16:23635700

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA395135882

rs_1555461587

3 SubmittersRCV000635901 RCV002448970

NM_024675.4(PALB2):c.2968G>C (p.Glu990Gln)

SNV
Germline

Chr16:23622997

Conflicting classifications of pathogenicity

Familial cancer of breast
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA395143969

rs_876659036

3 SubmittersRCV000635602 RCV001796150 RCV002438681

NM_024675.4(PALB2):c.2869A>T (p.Lys957Ter)

SNV
Germline

Chr16:23623096

Pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA395144397

rs_515726103

1 SubmittersRCV000635650

NM_024675.4(PALB2):c.1607T>C (p.Leu536Pro)

SNV
Germline

Chr16:23634939

Conflicting classifications of pathogenicity

Familial cancer of breast
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA395130490

rs_1555461198

3 SubmittersRCV000635825 RCV003233767 RCV004649235

NM_024675.4(PALB2):c.109-5T>C

SNV
Germline

Chr16:23637957

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA7963841

rs_749299119

9 SubmittersRCV001017270 RCV001030121 RCV001706691 RCV006452786

NM_004360.5(CDH1):c.2165-1G>C

SNV
Germline

Chr16:68828173

Likely pathogenic

Hereditary diffuse gastric adenocarcinoma
Hereditary cancer-predisposing syndrome
Condition: not provided
CDH1-related diffuse gastric and lobular breast cancer syndrome
Familial cancer of breast

Reviewed By Expert Panel

CA396469209

rs_1385720097

7 SubmittersRCV000639248 RCV002424416 RCV003156271 RCV003328445 RCV003459529

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_032043.3(BRIP1):c.2589G>A (p.Trp863Ter)

SNV
Germline

Chr17:61686152

Pathogenic

Familial cancer of breast
Fanconi anemia complementation group J
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA400481991

rs_1555573497

4 SubmittersRCV000636183 RCV001525099 RCV003336108

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_032043.3(BRIP1):c.628-10T>A

SNV
Germline

Chr17:61808767

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group J
Familial cancer of breast
Malignant tumor of esophagus

Criteria Provided
Conflicting Classifications

CA8690874

rs_375646029

4 SubmittersRCV000636216 RCV001180008 RCV001394030 RCV005900158

NM_032043.3(BRIP1):c.2907T>C (p.Asn969=)

SNV
Germline

Chr17:61684139

Conflicting classifications of pathogenicity

Fanconi anemia complementation group J
Familial cancer of breast
not specified
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided

Criteria Provided
Conflicting Classifications

CA501143332

rs_1555572999

5 SubmittersRCV000636203 RCV000781171 RCV002438686 RCV004788061 RCV006260922

NM_032043.3(BRIP1):c.1736G>A (p.Arg579His)

SNV
Germline

Chr17:61780898

Conflicting classifications of pathogenicity

Fanconi anemia complementation group J
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8690680

rs_768224857

5 SubmittersRCV000636129 RCV000775419 RCV005000414

NM_032043.3(BRIP1):c.1340+9A>T

SNV
Germline

Chr17:61799091

Conflicting classifications of pathogenicity

Fanconi anemia complementation group J
Familial cancer of breast
Condition: not provided
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA8690761

rs_376487588

3 SubmittersRCV000636190 RCV000758987 RCV004788056

NM_032043.3(BRIP1):c.1328G>A (p.Cys443Tyr)

SNV
Germline

Chr17:61799112

Conflicting classifications of pathogenicity

Fanconi anemia complementation group J
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA400483360

rs_1555607035

3 SubmittersRCV000636064 RCV001011049 RCV003441985

NM_032043.3(BRIP1):c.448G>T (p.Glu150Ter)

SNV
Germline

Chr17:61849188

Pathogenic

Fanconi anemia complementation group J
Familial cancer of breast
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA400484474

rs_762701532

3 SubmittersRCV000636081 RCV003336103 RCV004025468

NM_032043.3(BRIP1):c.380-6T>C

SNV
Germline

Chr17:61849262

Conflicting classifications of pathogenicity

Fanconi anemia complementation group J
Familial cancer of breast
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA8690938

rs_780921390

6 SubmittersRCV000636207 RCV000990038 RCV001185471 RCV001584468 RCV004526727

NM_032043.3(BRIP1):c.2990C>T (p.Thr997Ile)

SNV
Germline

Chr17:61684056

Conflicting classifications of pathogenicity

Fanconi anemia complementation group J
Familial cancer of breast
Condition: not provided
Hereditary cancer-predisposing syndrome
not specified
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA8690415

rs_749978235

9 SubmittersRCV000636087 RCV000758995 RCV000772635 RCV000780050 RCV003459518

NM_032043.3(BRIP1):c.2535G>A (p.Val845=)

SNV
Germline

Chr17:61693470

Conflicting classifications of pathogenicity

Fanconi anemia complementation group J
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA501144666

rs_1555574772

3 SubmittersRCV000636115 RCV002458022 RCV004788055

NM_032043.3(BRIP1):c.2517G>A (p.Trp839Ter)

SNV
Germline

Chr17:61693488

Pathogenic

Familial cancer of breast
Fanconi anemia complementation group J
Gastric cancer
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA400482454

rs_1555574803

3 SubmittersRCV000636075 RCV003162845 RCV003336100

NM_032043.3(BRIP1):c.507G>T (p.Gln169His)

SNV
Germline

Chr17:61849129

Likely pathogenic

Fanconi anemia complementation group J
Familial cancer of breast
Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA400484345

rs_876660937

4 SubmittersRCV000636164 RCV001775935 RCV002343241 RCV003451522

NM_032043.3(BRIP1):c.103G>T (p.Gly35Ter)

SNV
Germline

Chr17:61859898

Pathogenic/Likely pathogenic

Fanconi anemia complementation group J
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA400485866

rs_373104267

7 SubmittersRCV000636074 RCV001182086 RCV002289938 RCV006265144

NM_032043.3(BRIP1):c.3230T>G (p.Leu1077Ter)

SNV
Germline

Chr17:61683816

Conflicting classifications of pathogenicity

Fanconi anemia complementation group J
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA400479223

rs_1420431000

3 SubmittersRCV000636085 RCV000776642

NM_032043.3(BRIP1):c.2574T>C (p.Ser858=)

SNV
Germline

Chr17:61693431

Conflicting classifications of pathogenicity

Fanconi anemia complementation group J
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA501144547

rs_1555574712

2 SubmittersRCV000636119 RCV004948500

NM_032043.3(BRIP1):c.1140+3G>A

SNV
Germline

Chr17:61801250

Conflicting classifications of pathogenicity

Fanconi anemia complementation group J
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA626807418

rs_1322162359

3 SubmittersRCV000636133 RCV001017433 RCV004025470

NM_032043.3(BRIP1):c.919-10T>G

SNV
Germline

Chr17:61801484

Conflicting classifications of pathogenicity

Fanconi anemia complementation group J
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Uterine carcinosarcoma

Criteria Provided
Conflicting Classifications

CA8690825

rs_748497834

5 SubmittersRCV000636191 RCV000775424 RCV003314630 RCV003471997 RCV005900157

NM_032043.3(BRIP1):c.627A>G (p.Lys209=)

SNV
Germline

Chr17:61847101

Conflicting classifications of pathogenicity

Fanconi anemia complementation group J
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA501150600

rs_1555615717

3 SubmittersRCV000636149 RCV001025073 RCV004025471

NM_000152.5(GAA):c.119G>A (p.Arg40Gln)

SNV
Germline

Chr17:80104705

Conflicting classifications of pathogenicity

Glycogen storage disease, type II
Condition: not provided
Cardiovascular phenotype
Familial cancer of breast
not specified

Criteria Provided
Conflicting Classifications

CA8814792

rs_374476196

6 SubmittersRCV000631091 RCV002292572 RCV005831636 RCV005900118 RCV005431823

NM_000546.6(TP53):c.993+1G>A

SNV
Germline/somatic

Chr17:7673534

Pathogenic/Likely pathogenic

Li-Fraumeni syndrome
Ovarian neoplasm
Condition: not provided
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1
Neoplasm
Pancreatic adenocarcinoma
Colon adenocarcinoma
Familial cancer of breast
Squamous cell carcinoma of the head and neck
Squamous cell lung carcinoma
Ovarian serous cystadenocarcinoma
Malignant tumor of urinary bladder

Criteria Provided
Multiple Submitters
No Conflicts

CA397835645

rs_11575997

9 SubmittersRCV000633368 RCV000785467 RCV000786816 RCV002289929 RCV002289928 RCV005231205 RCV005900142 RCV005900138 RCV005900137 RCV005900139 RCV005900140 RCV005900143 RCV005900141

NM_007194.4(CHEK2):c.1259+2T>C

SNV
Germline

Chr22:28695708

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA411096471

rs_1555913631

2 SubmittersRCV000635820 RCV005801845

NM_007194.4(CHEK2):c.339C>G (p.Tyr113Ter)

SNV
Germline

Chr22:28725348

Pathogenic

Familial cancer of breast
Hereditary cancer-predisposing syndrome
CHEK2-related cancer predisposition
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA323033395

rs_905674348

8 SubmittersRCV000635735 RCV000771629 RCV001814204 RCV003483696

NM_007194.4(CHEK2):c.885A>G (p.Glu295=)

SNV
Germline

Chr22:28703528

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided

Criteria Provided
Conflicting Classifications

CA513945078

rs_1555916935

5 SubmittersRCV001182083 RCV001462161 RCV004783830

NM_007194.4(CHEK2):c.847-5C>G

SNV
Germline

Chr22:28703571

Conflicting classifications of pathogenicity

Familial cancer of breast
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA658799517

rs_1555917045

3 SubmittersRCV000635914 RCV001756056 RCV002248837

NM_007194.4(CHEK2):c.846+1G>T

SNV
Germline

Chr22:28710005

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
CHEK2-related cancer predisposition
Inherited breast cancer and ovarian cancer

Criteria Provided
Conflicting Classifications

CA411102255

rs_864622149

7 SubmittersRCV000635635 RCV002448967 RCV005401542 RCV006438524

NM_007194.4(CHEK2):c.468C>A (p.Tyr156Ter)

SNV
Germline

Chr22:28725101

Pathogenic

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA411107669

rs_1555926996

3 SubmittersRCV000635733 RCV002331139

NM_007194.4(CHEK2):c.1096-1G>T

SNV
Germline

Chr22:28695874

Likely pathogenic

Familial cancer of breast
Gastric cancer
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA411097244

rs_1060502716

4 SubmittersRCV000635919 RCV003162844 RCV006552558

NM_007194.4(CHEK2):c.1009-1G>A

SNV
Germline

Chr22:28696988

Likely pathogenic

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA411097868

rs_1555914382

3 SubmittersRCV000635904 RCV005318466

NM_007194.4(CHEK2):c.444+4G>A

SNV
Germline

Chr22:28725239

Conflicting classifications of pathogenicity

Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA658799526

rs_1434760802

3 SubmittersRCV000636009

NM_007194.4(CHEK2):c.79C>T (p.Gln27Ter)

SNV
Germline

Chr22:28734643

Pathogenic

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Colorectal cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA411091646

rs_376736188

5 SubmittersRCV000635876 RCV001027035 RCV001543607

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_000465.4(BARD1):c.632T>A (p.Leu211Ter)

SNV
Germline

Chr2:214781242

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA350456639

rs_762171436

6 SubmittersRCV000657689 RCV001025144 RCV001387044

NM_000051.4(ATM):c.392C>G (p.Ser131Ter)

SNV
Germline

Chr11:108235730

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA382524900

rs_1363726955

6 SubmittersRCV000657718 RCV001054804 RCV001021461 RCV003465428

NM_000051.4(ATM):c.3619G>T (p.Glu1207Ter)

SNV
Germline

Chr11:108282752

Pathogenic

Condition: not provided
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382522808

rs_772724024

2 SubmittersRCV000657746 RCV004026016

NM_000051.4(ATM):c.8419G>T (p.Glu2807Ter)

SNV
Germline

Chr11:108345743

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA382517708

rs_1555137929

4 SubmittersRCV000657598 RCV000813123 RCV004026012 RCV003303087

NM_000059.4(BRCA2):c.5006T>G (p.Leu1669Ter)

SNV
Germline

Chr13:32339361

Pathogenic

Condition: not provided
Familial cancer of breast

Criteria Provided
Single Submitter

CA387783933

rs_1555284032

2 SubmittersRCV000657740 RCV001004832

NM_024675.4(PALB2):c.3441T>A (p.Cys1147Ter)

SNV
Germline

Chr16:23603579

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA395138136

rs_1555457867

11 SubmittersRCV000657758 RCV001213219 RCV002458171 RCV004526734 RCV004740390 RCV005019096

NM_024675.4(PALB2):c.3425T>A (p.Leu1142Ter)

SNV
Germline

Chr16:23603595

Pathogenic

Condition: not provided
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA395138197

rs_1555457878

2 SubmittersRCV000657760 RCV001234062

NM_024675.4(PALB2):c.1288C>T (p.Gln430Ter)

SNV
Germline

Chr16:23635258

Pathogenic/Likely pathogenic

Condition: not provided
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA395132531

rs_1555461358

6 SubmittersRCV000657764 RCV000662965 RCV002386129

NM_003620.4(PPM1D):c.1714C>T (p.Arg572Ter)

SNV
Germline

Chr17:60663448

Conflicting classifications of pathogenicity

Condition: not provided
Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA8687856

rs_765769406

4 SubmittersRCV000657771 RCV000767346 RCV002248853

NM_032043.3(BRIP1):c.566C>G (p.Ser189Ter)

SNV
Germline

Chr17:61847162

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA400483082

rs_1555615763

3 SubmittersRCV000657683 RCV002343402 RCV003767890

NM_007194.4(CHEK2):c.1510G>T (p.Glu504Ter)

SNV
Germline

Chr22:28689167

Pathogenic/Likely pathogenic

Condition: not provided
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA411092388

rs_587782489

5 SubmittersRCV000657698 RCV001377422 RCV002388160

NM_001042492.3(NF1):c.1393-1G>C

SNV
Germline

Chr17:31214450

Pathogenic/Likely pathogenic

Neurofibromatosis, type 1
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA399001403

rs_1131691131

3 SubmittersRCV000659986 RCV005901418

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_000465.4(BARD1):c.2001+3A>G

SNV
Germline

Chr2:214730408

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA658821564

rs_1553612461

8 SubmittersRCV000662438 RCV001177935 RCV001357246 RCV006260962

NM_024675.4(PALB2):c.475G>T (p.Glu159Ter)

SNV
Germline

Chr16:23636071

Pathogenic

Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA395137122

rs_1555461788

3 SubmittersRCV000662619

NM_024675.4(PALB2):c.212-2A>T

SNV
Unknown

Chr16:23636336

Likely pathogenic

Familial cancer of breast

No Assertion Criteria Provided

CA395139000

rs_730881879

1 SubmittersRCV000662995

NM_004360.5(CDH1):c.1138-15C>G

SNV
Germline

Chr16:68813298

Conflicting classifications of pathogenicity

Hereditary diffuse gastric adenocarcinoma
Hereditary cancer-predisposing syndrome
Blepharocheilodontic syndrome 1
Familial cancer of breast
Ovarian cancer
Endometrial carcinoma
Hereditary diffuse gastric adenocarcinoma

Criteria Provided
Conflicting Classifications

CA8130010

rs_752733398

5 SubmittersRCV000663102 RCV001187080 RCV005392265

NM_032043.3(BRIP1):c.1360G>T (p.Glu454Ter)

SNV
Germline

Chr17:61793710

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Fanconi anemia complementation group J
Ovarian cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA400482282

rs_1555605955

5 SubmittersRCV002386137 RCV003316792 RCV003325510 RCV005430381

NM_007194.4(CHEK2):c.847-6T>G

SNV
Germline

Chr22:28703572

Conflicting classifications of pathogenicity

Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA658824095

rs_1555917050

3 SubmittersRCV000663238

NM_007194.4(CHEK2):c.593-14C>G

SNV
Germline

Chr22:28719499

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
CHEK2-related cancer predisposition
not specified

Criteria Provided
Conflicting Classifications

CA323028595

rs_145754558

6 SubmittersRCV000662945 RCV001181298 RCV005414525 RCV006273975

NM_001378454.1(ALMS1):c.12463-14C>G

SNV
Germline

Chr2:73609554

Conflicting classifications of pathogenicity

Alstrom syndrome
not specified
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA1715601

rs_766656843

4 SubmittersRCV000665787 RCV001797775 RCV005901442

NM_000051.4(ATM):c.4148C>A (p.Ser1383Ter)

SNV
Germline

Chr11:108289015

Pathogenic/Likely pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Malignant tumor of breast
Condition: not provided
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382529972

rs_141087784

8 SubmittersRCV000668716 RCV001021947 RCV004026103 RCV005407864 RCV004596324 RCV005046880

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.7788G>C (p.Glu2596Asp)

SNV
Germline

Chr11:108332037

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA501110

rs_587780639

7 SubmittersRCV000674257 RCV002406517 RCV003316796 RCV003332225

NM_000051.4(ATM):c.8585-2A>G

SNV
Germline

Chr11:108347277

Pathogenic/Likely pathogenic

Ataxia-telangiectasia syndrome
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA382520234

rs_1060501700

4 SubmittersRCV000668705 RCV004026102 RCV003303096

NM_000051.4(ATM):c.1235+1G>A

SNV
Germline

Chr11:108249103

Likely pathogenic

Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382532667

rs_1555069881

5 SubmittersRCV000668841 RCV003465485

NM_000051.4(ATM):c.1236-1G>A

SNV
Germline

Chr11:108250700

Pathogenic/Likely pathogenic

Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382533115

rs_1408719214

3 SubmittersRCV000672765 RCV004788102

NM_000051.4(ATM):c.4436+1G>T

SNV
Germline

Chr11:108289802

Pathogenic/Likely pathogenic

Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382532300

rs_1555097894

3 SubmittersRCV000669742 RCV004026111

NM_000051.4(ATM):c.3154-1G>A

SNV
Germline

Chr11:108272721

Pathogenic/Likely pathogenic

Ataxia-telangiectasia syndrome
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA382515471

rs_1555085973

5 SubmittersRCV000672474 RCV001171403 RCV005732161

NM_000051.4(ATM):c.8535G>A (p.Trp2845Ter)

SNV
Germline

Chr11:108345859

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA382518376

rs_1555138291

7 SubmittersRCV000671076 RCV000722036 RCV000991563 RCV003465507 RCV005732160

NM_000051.4(ATM):c.9109C>T (p.Gln3037Ter)

SNV
Germline/somatic

Chr11:108365446

Pathogenic

Ataxia-telangiectasia syndrome
Malignant tumor of urinary bladder
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA382531977

rs_1555152009

5 SubmittersRCV000673513 RCV003332224 RCV004026131 RCV005402963

NM_000051.4(ATM):c.5177+5G>A

SNV
Germline

Chr11:108299890

Pathogenic/Likely pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA6265639

rs_759373136

8 SubmittersRCV000673901 RCV000777914 RCV003459643 RCV005046908

NM_000051.4(ATM):c.5178-1G>A

SNV
Germline

Chr11:108301647

Pathogenic/Likely pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382542074

rs_1555105579

6 SubmittersRCV000674911 RCV001023662 RCV004026138

NM_000051.4(ATM):c.1120C>T (p.Gln374Ter)

SNV
Germline

Chr11:108248987

Pathogenic

Ataxia-telangiectasia syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382532421

rs_1185204988

6 SubmittersRCV000668668 RCV000762812 RCV001185328 RCV004026101

NM_000051.4(ATM):c.3102T>G (p.Tyr1034Ter)

SNV
Germline

Chr11:108272556

Pathogenic

Ataxia-telangiectasia syndrome
Familial cancer of breast
ATM-related cancer predisposition
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA382515111

rs_780240314

5 SubmittersRCV000672308 RCV003985408 RCV005638524 RCV005502871

NM_000137.4(FAH):c.1063-2A>G

SNV
Germline

Chr15:80181040

Pathogenic

Tyrosinemia type I
Familial cancer of breast

Criteria Provided
Single Submitter

CA393621854

rs_1555442385

3 SubmittersRCV000674452 RCV005901511

NM_000528.4(MAN2B1):c.2355G>A (p.Thr785=)

SNV
Germline

Chr19:12649341

Pathogenic/Likely pathogenic

Deficiency of alpha-mannosidase
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA305461972

rs_1008745697

5 SubmittersRCV000669668 RCV005901472

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_007194.4(CHEK2):c.341G>A (p.Trp114Ter)

SNV
Germline

Chr22:28725346

Pathogenic

Sarcoma
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA411108225

rs_1555927374

4 SubmittersRCV000677872 RCV002531391 RCV006552669

NM_024675.4(PALB2):c.778C>T (p.Gln260Ter)

SNV
Germline

Chr16:23635768

Pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Neuroendocrine tumor of pancreas

Criteria Provided
Multiple Submitters
No Conflicts

CA395136081

rs_1555461627

5 SubmittersRCV002406519 RCV003453394 RCV006607679

NM_024675.4(PALB2):c.2515-11T>C

SNV
Germline

Chr16:23629286

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA7963546

rs_780521904

6 SubmittersRCV000679764 RCV000771301 RCV002066995

NM_024675.4(PALB2):c.1991T>G (p.Met664Arg)

SNV
Germline

Chr16:23630163

Conflicting classifications of pathogenicity

Condition: not provided
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA395127223

rs_945657254

3 SubmittersRCV000679762 RCV000801768 RCV001013949

NM_000051.4(ATM):c.4432C>T (p.Gln1478Ter)

SNV
Germline

Chr11:108289797

Pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382532287

rs_1368412801

5 SubmittersRCV000680217 RCV001022468 RCV003465548

NM_014140.4(SMARCAL1):c.863-2A>G

SNV
Germline

Chr2:216420297

Pathogenic

Condition: not provided
Schimke immuno-osseous dysplasia
SMARCAL1-related disorder
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA2097729

rs_761546902

7 SubmittersRCV000681817 RCV000797448 RCV003420206 RCV005901603

NM_000465.4(BARD1):c.1111A>T (p.Lys371Ter)

SNV
Germline

Chr2:214780763

Pathogenic

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA350454036

rs_1364256214

3 SubmittersRCV000704468 RCV001017353

NM_000465.4(BARD1):c.215+2T>C

SNV
Germline

Chr2:214797059

Likely pathogenic

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA350462108

rs_1559441760

6 SubmittersRCV000698430 RCV002259005 RCV003156285

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_000465.4(BARD1):c.1240A>G (p.Met414Val)

SNV
Germline

Chr2:214780634

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA64787917

rs_759601398

3 SubmittersRCV000704930 RCV001010520 RCV006261009

NM_000465.4(BARD1):c.779T>G (p.Leu260Ter)

SNV
Germline

Chr2:214781095

Pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA350455819

rs_1559425010

1 SubmittersRCV000693671

NM_000465.4(BARD1):c.616C>T (p.Gln206Ter)

SNV
Germline

Chr2:214781258

Pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA350456686

rs_1453894904

1 SubmittersRCV000688795

NM_000465.4(BARD1):c.86A>C (p.Asp29Ala)

SNV
Germline

Chr2:214809484

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2090519

rs_777491507

6 SubmittersRCV000695298 RCV000774688 RCV001283884

NM_000465.4(BARD1):c.1904-10T>C

SNV
Germline

Chr2:214730518

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA64793866

rs_768259863

3 SubmittersRCV000706888 RCV001181311

NM_000465.4(BARD1):c.1396-5A>G

SNV
Germline

Chr2:214767659

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA891842524

rs_1559410251

3 SubmittersRCV000687169 RCV000772362

NM_000465.4(BARD1):c.365-1G>T

SNV
Germline

Chr2:214781510

Likely pathogenic

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA350458428

rs_1559426428

2 SubmittersRCV000694698 RCV002458250

NM_000051.4(ATM):c.497-1G>C

SNV
Germline

Chr11:108243952

Likely pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382527392

rs_778624615

3 SubmittersRCV000687478 RCV001176630 RCV004026265

NM_000051.4(ATM):c.2250+1G>A

SNV
Germline

Chr11:108256341

Pathogenic/Likely pathogenic

Ataxia-telangiectasia syndrome
Familial cancer of breast
ATM-related disorder
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA382539319

rs_1565395193

5 SubmittersRCV000702192 RCV004026586 RCV004547869 RCV004669093

NM_000051.4(ATM):c.3167C>A (p.Ser1056Ter)

SNV
Germline

Chr11:108272735

Pathogenic

Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382515552

rs_1565428419

2 SubmittersRCV000687188 RCV004026258

NM_000051.4(ATM):c.4909+1G>T

SNV
Germline

Chr11:108295060

Pathogenic/Likely pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382537329

rs_756987454

4 SubmittersRCV000704443 RCV003362917 RCV004026662

NM_000051.4(ATM):c.7629+1G>A

SNV
Germline

Chr11:108331558

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA382560876

rs_1565532703

6 SubmittersRCV000704900 RCV001026637 RCV004026672 RCV005231297

NM_000051.4(ATM):c.8911C>T (p.Gln2971Ter)

SNV
Germline

Chr11:108365142

Pathogenic/Likely pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Breast cancer, susceptibility to
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382529890

rs_1565607653

6 SubmittersRCV000706912 RCV000773913 RCV001258065 RCV003460987

NM_000051.4(ATM):c.484C>T (p.Gln162Ter)

SNV
Germline

Chr11:108235822

Pathogenic

Ataxia-telangiectasia syndrome
Condition: not provided
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382525668

rs_1565357383

4 SubmittersRCV000685533 RCV001093021 RCV003465556

NM_000051.4(ATM):c.597T>A (p.Cys199Ter)

SNV
Germline

Chr11:108244053

Pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382528065

rs_1565369633

4 SubmittersRCV000692604 RCV001024742 RCV003465585

NM_000051.4(ATM):c.1907A>G (p.His636Arg)

SNV
Germline

Chr11:108253822

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA382536307

rs_1333990758

4 SubmittersRCV000687002 RCV001013584 RCV003465560

NM_000051.4(ATM):c.2494C>G (p.Arg832Gly)

SNV
Germline

Chr11:108267198

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA382543254

rs_2229022

3 SubmittersRCV000694461 RCV001015701 RCV004569321

NM_000051.4(ATM):c.6311G>A (p.Trp2104Ter)

SNV
Germline

Chr11:108317485

Pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Familial prostate cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA382552155

rs_1064794143

4 SubmittersRCV000705717 RCV002352211 RCV004026701 RCV006459850

NM_000051.4(ATM):c.7076C>A (p.Thr2359Asn)

SNV
Germline

Chr11:108327745

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA382559142

rs_730881314

3 SubmittersRCV000698510 RCV001026008 RCV003465605

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.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_000051.4(ATM):c.299T>A (p.Leu100Ter)

SNV
Germline

Chr11:108229291

Pathogenic

Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382521735

rs_761936549

3 SubmittersRCV000706123 RCV003141703

NM_000051.4(ATM):c.1898+1G>A

SNV
Germline

Chr11:108252913

Pathogenic/Likely pathogenic

Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382536122

rs_758325274

2 SubmittersRCV000688133 RCV004026288

NM_000051.4(ATM):c.1954T>C (p.Phe652Leu)

SNV
Germline

Chr11:108253869

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA382536721

rs_1565389902

5 SubmittersRCV000705604 RCV000773598 RCV002499273

NM_000051.4(ATM):c.2125-2A>C

SNV
Germline

Chr11:108256213

Likely pathogenic

Ataxia-telangiectasia syndrome
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA382538624

rs_1565394403

3 SubmittersRCV000687112 RCV004026256 RCV005286172

NM_000051.4(ATM):c.2620G>T (p.Glu874Ter)

SNV
Germline

Chr11:108267324

Pathogenic/Likely pathogenic

Ataxia-telangiectasia syndrome
Familial cancer of breast
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382544261

rs_1565416901

4 SubmittersRCV000698372 RCV003465603 RCV005049663

NM_000051.4(ATM):c.8610T>C (p.Asp2870=)

SNV
Germline

Chr11:108347304

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA476673476

rs_1370524851

7 SubmittersRCV000697779 RCV001018087 RCV004588133 RCV004997189

NM_000051.4(ATM):c.8988-3T>C

SNV
Germline

Chr11:108365322

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA891843038

rs_1565608600

5 SubmittersRCV000701263 RCV001192208 RCV004588142

NM_024675.4(PALB2):c.3340C>T (p.Gln1114Ter)

SNV
Germline

Chr16:23607874

Pathogenic/Likely pathogenic

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA395139278

rs_1567206756

5 SubmittersRCV000700359 RCV000708618

NM_024675.4(PALB2):c.3262C>T (p.Pro1088Ser)

SNV
Germline

Chr16:23607952

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA395139751

rs_1060502777

2 SubmittersRCV000691622 RCV001019527

NM_024675.4(PALB2):c.2996+3A>C

SNV
Germline

Chr16:23622966

Conflicting classifications of pathogenicity

Familial cancer of breast
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA891844513

rs_876659931

3 SubmittersRCV000686952 RCV003478404 RCV005384815

NM_024675.4(PALB2):c.2540C>G (p.Ser847Cys)

SNV
Germline

Chr16:23629250

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group N
Familial cancer of breast
Pancreatic cancer, susceptibility to, 3

Criteria Provided
Conflicting Classifications

CA395123812

rs_1567216902

4 SubmittersRCV000686106 RCV001015881 RCV002485597

NM_024675.4(PALB2):c.1377C>G (p.Asp459Glu)

SNV
Germline

Chr16:23635169

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA395131410

rs_771002573

3 SubmittersRCV000687394 RCV000774945

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_001036.6(RYR3):c.7249A>G (p.Ile2417Val)

SNV
Germline

Chr15:33731519

Conflicting classifications of pathogenicity

Epileptic encephalopathy
Condition: not provided
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA7459833

rs_200294137

3 SubmittersRCV000704141 RCV003411639 RCV005901733

NM_032043.3(BRIP1):c.2605C>T (p.Gln869Ter)

SNV
Germline

Chr17:61686136

Pathogenic

Fanconi anemia complementation group J
Familial cancer of breast
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA400481958

rs_1060501766

2 SubmittersRCV000689517 RCV003336137

NM_024675.4(PALB2):c.3350+6T>C

SNV
Germline

Chr16:23607858

Pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA891843570

rs_1567206733

1 SubmittersRCV000704793

NM_024675.4(PALB2):c.2860G>A (p.Glu954Lys)

SNV
Germline

Chr16:23623105

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA395144445

rs_879254015

2 SubmittersRCV000701093 RCV006406734

NM_024675.4(PALB2):c.2515-1G>A

SNV
Germline

Chr16:23629276

Likely pathogenic

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Breast cancer, susceptibility to
Pancreatic cancer, susceptibility to, 3

Criteria Provided
Multiple Submitters
No Conflicts

CA395123879

rs_587776417

5 SubmittersRCV000707120 RCV001015744 RCV001258101

NM_000051.4(ATM):c.496G>T (p.Glu166Ter)

SNV
Germline

Chr11:108235834

Pathogenic/Likely pathogenic

Ataxia-telangiectasia syndrome
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Malignant tumor of esophagus

Criteria Provided
Multiple Submitters
No Conflicts

CA382525786

rs_1565357473

4 SubmittersRCV000687441 RCV003459673 RCV005502873 RCV005901622

NM_000051.4(ATM):c.680C>G (p.Ser227Ter)

SNV
Germline

Chr11:108244805

Pathogenic/Likely pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382529018

rs_762998620

4 SubmittersRCV000704975 RCV002360820 RCV004026677

NM_024675.4(PALB2):c.1150G>A (p.Glu384Lys)

SNV
Germline

Chr16:23635396

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group N
Pancreatic cancer, susceptibility to, 3

Criteria Provided
Conflicting Classifications

CA395133552

rs_1567221497

4 SubmittersRCV000693232 RCV001181141 RCV002493183

NM_000051.4(ATM):c.1547T>A (p.Leu516Ter)

SNV
Germline

Chr11:108251012

Pathogenic

Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382534328

rs_786202195

3 SubmittersRCV000699881 RCV004026492

NM_000051.4(ATM):c.1573A>T (p.Lys525Ter)

SNV
Germline

Chr11:108251038

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA382534387

rs_1565383766

4 SubmittersRCV000694520 RCV001683630 RCV002388257 RCV004025199

NM_024675.4(PALB2):c.938G>A (p.Gly313Asp)

SNV
Germline

Chr16:23635608

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA395135187

rs_1555461531

2 SubmittersRCV000704478 RCV005463103

NM_024675.4(PALB2):c.113C>T (p.Ala38Val)

SNV
Germline

Chr16:23637948

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group N
Pancreatic cancer, susceptibility to, 3
Ovarian cancer

Criteria Provided
Conflicting Classifications

CA7963837

rs_371875379

5 SubmittersRCV000694173 RCV000774648 RCV002477574 RCV003153807

NM_024675.4(PALB2):c.3037A>G (p.Ile1013Val)

SNV
Germline

Chr16:23621438

Conflicting classifications of pathogenicity

Familial cancer of breast
Condition: not provided
Fanconi anemia complementation group N
Familial cancer of breast
Pancreatic cancer, susceptibility to, 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA395143060

rs_1567212950

4 SubmittersRCV000695855 RCV001030369 RCV002507213 RCV003362904

NM_024675.4(PALB2):c.2698G>C (p.Ala900Pro)

SNV
Germline

Chr16:23626286

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA395121953

rs_1555459946

4 SubmittersRCV000691295 RCV001016341 RCV001729686

NM_024675.4(PALB2):c.1006A>C (p.Asn336His)

SNV
Germline

Chr16:23635540

Conflicting classifications of pathogenicity

Familial cancer of breast
Condition: not provided
Hereditary cancer-predisposing syndrome
not specified

Criteria Provided
Conflicting Classifications

CA395134551

rs_1060502774

5 SubmittersRCV000701789 RCV000985881 RCV002422574 RCV003479202

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_032043.3(BRIP1):c.2824T>C (p.Cys942Arg)

SNV
Germline

Chr17:61685917

Conflicting classifications of pathogenicity

Familial cancer of breast
Fanconi anemia complementation group J
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA400481439

rs_1567731308

3 SubmittersRCV000706890 RCV002440548 RCV004569395

NM_032043.3(BRIP1):c.939T>G (p.Tyr313Ter)

SNV
Germline

Chr17:61801454

Pathogenic

Familial cancer of breast
Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA400484282

rs_1436085018

2 SubmittersRCV000701553 RCV003336153

NM_000546.6(TP53):c.205G>A (p.Ala69Thr)

SNV
Germline

Chr17:7676164

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1
Familial cancer of breast
Li-Fraumeni syndrome 1

Criteria Provided
Conflicting Classifications

CA397845904

rs_1567556618

5 SubmittersRCV000698086 RCV001183319 RCV002289975 RCV005357934

NM_000088.4(COL1A1):c.697-1G>A

SNV
Germline

Chr17:50197234

Pathogenic

Osteogenesis imperfecta type I
Condition: not provided
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA400224346

rs_67163049

3 SubmittersRCV000705639 RCV005601083 RCV005901738

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_007194.4(CHEK2):c.1454G>A (p.Trp485Ter)

SNV
Germline

Chr22:28694039

Pathogenic

Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA411093942

rs_1199577809

2 SubmittersRCV000686426

NM_032043.3(BRIP1):c.3529A>C (p.Lys1177Gln)

SNV
Germline

Chr17:61683517

Conflicting classifications of pathogenicity

Fanconi anemia complementation group J
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA8690354

rs_756313788

3 SubmittersRCV000692471 RCV001020526 RCV003325213

NM_007194.4(CHEK2):c.683+2T>C

SNV
Germline

Chr22:28719393

Conflicting classifications of pathogenicity

Familial cancer of breast
Malignant tumor of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10167923

rs_781021132

5 SubmittersRCV000685127 RCV001357999 RCV004026184

NM_032043.3(BRIP1):c.2791C>T (p.Pro931Ser)

SNV
Germline

Chr17:61685950

Conflicting classifications of pathogenicity

Familial cancer of breast
Fanconi anemia complementation group J
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA400481525

rs_745940032

4 SubmittersRCV000703868 RCV004569380 RCV004026646

NM_032043.3(BRIP1):c.1162C>T (p.Gln388Ter)

SNV
Germline

Chr17:61799278

Pathogenic

Familial cancer of breast
Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA400483786

rs_1304655615

2 SubmittersRCV000690639 RCV003336139

NM_032043.3(BRIP1):c.514A>T (p.Lys172Ter)

SNV
Germline

Chr17:61847214

Pathogenic

Fanconi anemia complementation group J
Familial cancer of breast
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA400483426

rs_1060501765

2 SubmittersRCV000688451 RCV003336136

NM_032043.3(BRIP1):c.467T>C (p.Val156Ala)

SNV
Germline

Chr17:61849169

Conflicting classifications of pathogenicity

Familial cancer of breast
Fanconi anemia complementation group J
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA400484427

rs_1567868429

4 SubmittersRCV000702303 RCV002332487 RCV004569369

NM_032043.3(BRIP1):c.93+8T>G

SNV
Germline

Chr17:61861439

Conflicting classifications of pathogenicity

Familial cancer of breast
Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA891844434

rs_1567878012

3 SubmittersRCV000697304 RCV004788134

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_007194.4(CHEK2):c.1465G>T (p.Glu489Ter)

SNV
Germline

Chr22:28689212

Pathogenic

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA411092740

rs_1420382294

3 SubmittersRCV000707182 RCV003165931

NM_007194.4(CHEK2):c.1461+2T>C

SNV
Germline

Chr22:28694030

Likely pathogenic

Familial cancer of breast
Condition: not provided
Hereditary cancer-predisposing syndrome
Breast and/or ovarian cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA411093842

rs_779844113

6 SubmittersRCV000693670 RCV000708609 RCV002388249 RCV003492132

NM_024675.4(PALB2):c.3342G>C (p.Gln1114His)

SNV
Germline

Chr16:23607872

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA395139263

rs_1567206753

3 SubmittersRCV000707157 RCV000776589

NM_024675.4(PALB2):c.2645G>T (p.Cys882Phe)

SNV
Germline

Chr16:23626339

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA395122138

rs_45486906

3 SubmittersRCV000704896 RCV001184091

NM_007194.4(CHEK2):c.1095+2T>G

SNV
Germline/somatic

Chr22:28696899

Likely pathogenic

Familial cancer of breast
Malignant lymphoma, large B-cell, diffuse

Criteria Provided
Multiple Submitters
No Conflicts

CA411097402

rs_1569115687

3 SubmittersRCV000695376 RCV003448982

NM_007194.4(CHEK2):c.112A>G (p.Ile38Val)

SNV
Germline

Chr22:28734610

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10168074

rs_774192195

3 SubmittersRCV000707276 RCV001184818

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_032043.3(BRIP1):c.3631G>A (p.Gly1211Ser)

SNV
Germline

Chr17:61683415

Conflicting classifications of pathogenicity

Familial cancer of breast
Fanconi anemia complementation group J
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA400477949

rs_1567727439

4 SubmittersRCV000696975 RCV000776820 RCV003478427

NM_032043.3(BRIP1):c.297C>G (p.Asp99Glu)

SNV
Germline

Chr17:61857140

Conflicting classifications of pathogenicity

Familial cancer of breast
Fanconi anemia complementation group J
not specified
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA400485427

rs_201617644

4 SubmittersRCV000698838 RCV000781182 RCV002440496

NM_000465.4(BARD1):c.1069A>G (p.Ile357Val)

SNV
Germline

Chr2:214780805

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA350454118

rs_1559424056

3 SubmittersRCV000708663 RCV005092053

NM_000051.4(ATM):c.1110C>A (p.Tyr370Ter)

SNV
Germline

Chr11:108248977

Pathogenic/Likely pathogenic

Condition: not provided
Breast carcinoma
Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382532404

rs_376170600

5 SubmittersRCV000708600 RCV001653982 RCV001868317 RCV004678803 RCV004026758

NM_024675.4(PALB2):c.2813A>G (p.Asn938Ser)

SNV
Germline

Chr16:23624030

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided

Criteria Provided
Conflicting Classifications

CA395144893

rs_1567214357

5 SubmittersRCV000708729 RCV000802486 RCV002298749

NM_024675.4(PALB2):c.1152A>G (p.Glu384=)

SNV
Germline

Chr16:23635394

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA494461920

rs_1567221490

3 SubmittersRCV000708727 RCV005422950

NM_024675.4(PALB2):c.868G>T (p.Glu290Ter)

SNV
Germline

Chr16:23635678

Pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA395135793

rs_1567222143

4 SubmittersRCV000708621 RCV000794070

NM_024675.4(PALB2):c.49-1G>A

SNV
Germline

Chr16:23638130

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA395140039

rs_1440838364

4 SubmittersRCV000708620 RCV005092051

NM_032043.3(BRIP1):c.2575+1G>A

SNV
Germline

Chr17:61693429

Likely pathogenic

Condition: not provided
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA400482297

rs_1567737536

2 SubmittersRCV000708604 RCV003336159

NM_000051.4(ATM):c.4777-6T>C

SNV
Unknown

Chr11:108294921

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA891842926

rs_1565465980

2 SubmittersRCV000709183 RCV004588156

NM_024675.4(PALB2):c.2587-1G>C

SNV
Germline

Chr16:23626398

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA7963519

rs_761214886

7 SubmittersRCV000709380 RCV000989555 RCV001759427 RCV005357957

NM_024675.4(PALB2):c.50T>G (p.Leu17Ter)

SNV
Germline

Chr16:23638128

Pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA395140021

rs_1567224232

4 SubmittersRCV000709390 RCV000989583

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_032043.3(BRIP1):c.1936-2A>C

SNV
Unknown

Chr17:61776564

Likely pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA400478670

rs_878855143

1 SubmittersRCV000990007

NM_032043.3(BRIP1):c.588C>G (p.Asn196Lys)

SNV
Germline

Chr17:61847140

Conflicting classifications of pathogenicity

Fanconi anemia complementation group J
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Hereditary cancer
Condition: not provided

Criteria Provided
Conflicting Classifications

CA292277712

rs_758851721

5 SubmittersRCV000792364 RCV001175891 RCV003492152 RCV006261018

NM_007194.4(CHEK2):c.1567C>A (p.Arg523Ser)

SNV
Germline

Chr22:28687962

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA411091353

rs_149501505

3 SubmittersRCV000709594 RCV006386960

NM_007194.4(CHEK2):c.988C>T (p.Gln330Ter)

SNV
Germline

Chr22:28699858

Pathogenic

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA411099480

rs_768973809

4 SubmittersRCV000709598 RCV002386280

NM_007194.4(CHEK2):c.319+3966G>A

SNV
Germline

Chr22:28730437

Conflicting classifications of pathogenicity

Familial cancer of breast
Condition: not provided
CHEK2-related disorder
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA10168035

rs_137926355

4 SubmittersRCV000709600 RCV000997891 RCV004535758 RCV005623365

NM_000465.4(BARD1):c.2106C>G (p.Ile702Met)

SNV
Germline

Chr2:214728904

Conflicting classifications of pathogenicity

Familial cancer of breast
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA350450610

rs_1559372357

5 SubmittersRCV000714523 RCV002289994 RCV002422624

NM_000051.4(ATM):c.8425C>T (p.Gln2809Ter)

SNV
Germline

Chr11:108345749

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382517734

rs_1555137973

6 SubmittersRCV000755036 RCV000796609 RCV002467451

NM_024675.4(PALB2):c.2192T>G (p.Leu731Ter)

SNV
Germline

Chr16:23629962

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA395125606

rs_1567217898

6 SubmittersRCV000755035 RCV001354086 RCV001855858

NM_004360.5(CDH1):c.2165-1G>T

SNV
Germline

Chr16:68828173

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Hereditary diffuse gastric adenocarcinoma
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA396469216

rs_1385720097

4 SubmittersRCV000755033 RCV003336168 RCV005897274

NM_032043.3(BRIP1):c.2492+1G>C

SNV
Germline

Chr17:61715950

Likely pathogenic

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group J
Familial cancer of breast
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA400479378

rs_1567755539

4 SubmittersRCV000755024 RCV001377589 RCV003336167

NM_183050.4(BCKDHB):c.744G>A (p.Ala248=)

SNV
Germline

Chr6:80200935

Conflicting classifications of pathogenicity

Condition: not provided
Maple syrup urine disease
BCKDHB-related disorder
Sarcoma
Familial cancer of breast
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3902752

rs_147719822

7 SubmittersRCV000755846 RCV001080961 RCV003955490 RCV005897288 RCV005897287 RCV005306143

NM_024675.4(PALB2):c.1919C>G (p.Ser640Ter)

SNV
Germline

Chr16:23630235

Pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA395127515

rs_760094988

5 SubmittersRCV000756460 RCV002406678 RCV003453539

NM_024675.4(PALB2):c.1941T>C (p.His647=)

SNV
Germline

Chr16:23630213

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA7963643

rs_745467835

5 SubmittersRCV000759182 RCV000781683 RCV001080752 RCV002406684

NM_024675.4(PALB2):c.1673T>C (p.Ile558Thr)

SNV
Germline

Chr16:23634873

Conflicting classifications of pathogenicity

Condition: not provided
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA7963686

rs_766583287

4 SubmittersRCV000759897 RCV001340380 RCV003166013

NM_024675.4(PALB2):c.1046A>C (p.Asn349Thr)

SNV
Germline

Chr16:23635500

Conflicting classifications of pathogenicity

Condition: not provided
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA395134191

rs_1567221740

3 SubmittersRCV000759891 RCV000806524 RCV003279043

NM_024675.4(PALB2):c.379C>T (p.His127Tyr)

SNV
Germline

Chr16:23636167

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA279500141

rs_1056494105

4 SubmittersRCV000759189 RCV001021174 RCV002533132

NM_007194.4(CHEK2):c.625C>T (p.Gln209Ter)

SNV
Germline

Chr22:28719453

Pathogenic/Likely pathogenic

Condition: not provided
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA411105070

rs_1569149953

5 SubmittersRCV000759045 RCV001855914 RCV004027167

NM_000465.4(BARD1):c.364+7A>C

SNV
Germline

Chr2:214792290

Conflicting classifications of pathogenicity

Condition: not provided
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA913189738

rs_1475396127

3 SubmittersRCV000758771 RCV001506326

NM_024675.4(PALB2):c.48+10G>A

SNV
Germline

Chr16:23641100

Conflicting classifications of pathogenicity

Condition: not provided
Familial cancer of breast
PALB2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA913190540

rs_1311681895

4 SubmittersRCV000759190 RCV001472512 RCV005367536

NM_018082.6(POLR3B):c.2570+1G>A

SNV
Germline

Chr12:106459369

Pathogenic

Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism
Condition: not provided
Familial cancer of breast
Colon adenocarcinoma

Criteria Provided
Multiple Submitters
No Conflicts

CA6762227

rs_753943393

9 SubmittersRCV000760972 RCV001093430 RCV005897330 RCV005897331

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_000465.4(BARD1):c.2184T>C (p.Ser728=)

SNV
Germline

Chr2:214728826

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided

Criteria Provided
Conflicting Classifications

CA431392644

rs_1559372027

4 SubmittersRCV000771406 RCV003768322 RCV004997272

NM_000465.4(BARD1):c.2105T>C (p.Ile702Thr)

SNV
Germline

Chr2:214728905

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2090078

rs_752114855

5 SubmittersRCV000774621 RCV001248631 RCV004777863

NM_000465.4(BARD1):c.1887G>A (p.Trp629Ter)

SNV
Germline

Chr2:214745083

Pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA350452082

rs_878854003

4 SubmittersRCV000775105 RCV000800395

NM_000465.4(BARD1):c.1852T>A (p.Leu618Met)

SNV
Germline

Chr2:214745118

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA350452210

rs_1559386134

3 SubmittersRCV000773821 RCV000791905

NM_000465.4(BARD1):c.949G>C (p.Glu317Gln)

SNV
Germline

Chr2:214780925

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA350454819

rs_1559424451

3 SubmittersRCV000772377 RCV000801622

NM_000465.4(BARD1):c.858A>G (p.Ile286Met)

SNV
Germline

Chr2:214781016

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA2090372

rs_772845446

3 SubmittersRCV000774685 RCV000807295

NM_000465.4(BARD1):c.748T>C (p.Ser250Pro)

SNV
Germline

Chr2:214781126

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2090385

rs_570022823

4 SubmittersRCV000774686 RCV000796687 RCV001775994

NM_000465.4(BARD1):c.401A>C (p.Asn134Thr)

SNV
Germline

Chr2:214781473

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA350458075

rs_1559426297

3 SubmittersRCV000771352 RCV001060673

NM_000465.4(BARD1):c.389A>G (p.Lys130Arg)

SNV
Germline

Chr2:214781485

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided

Criteria Provided
Conflicting Classifications

CA350458199

rs_1174079177

4 SubmittersRCV000775962 RCV001230357 RCV004997296

NM_000465.4(BARD1):c.272G>A (p.Trp91Ter)

SNV
Germline

Chr2:214792389

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA350461125

rs_1559437094

5 SubmittersRCV000773687 RCV001856063

NM_000465.4(BARD1):c.247T>C (p.Cys83Arg)

SNV
Germline

Chr2:214792414

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA350461233

rs_1559437198

4 SubmittersRCV000772785 RCV001257341

NM_000465.4(BARD1):c.244G>C (p.Gly82Arg)

SNV
Germline

Chr2:214792417

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA350461243

rs_1559437226

3 SubmittersRCV000775836 RCV001869106

NM_000051.4(ATM):c.1273G>A (p.Ala425Thr)

SNV
Germline

Chr11:108250738

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA6264796

rs_769214234

4 SubmittersRCV000777655 RCV001869128 RCV003465704

NM_000051.4(ATM):c.1321C>T (p.Gln441Ter)

SNV
Germline

Chr11:108250786

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA382533670

rs_1565382267

5 SubmittersRCV000771731 RCV001223497 RCV003229860 RCV004027238

NM_000051.4(ATM):c.5369A>G (p.Asp1790Gly)

SNV
Germline

Chr11:108302902

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6265694

rs_746945284

7 SubmittersRCV000777917 RCV000816697 RCV001759468 RCV003465705 RCV005431922

NM_000051.4(ATM):c.5596G>A (p.Val1866Ile)

SNV
Germline

Chr11:108304774

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA382546205

rs_1468995507

5 SubmittersRCV000772919 RCV001067277 RCV001797140 RCV005358001

NM_000051.4(ATM):c.5866C>T (p.Leu1956Phe)

SNV
Germline

Chr11:108310263

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA382548494

rs_1565489956

6 SubmittersRCV000773557 RCV000807520 RCV001262806 RCV003442062

NM_000051.4(ATM):c.6004C>T (p.Gln2002Ter)

SNV
Germline

Chr11:108312496

Pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA228398364

rs_201136510

4 SubmittersRCV000771918 RCV001045862 RCV004027239

NM_000051.4(ATM):c.6838C>T (p.Gln2280Ter)

SNV
Germline

Chr11:108326088

Pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382556614

rs_1565520246

3 SubmittersRCV000776664 RCV001202079 RCV004027298

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.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.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.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_024675.4(PALB2):c.2866G>T (p.Glu956Ter)

SNV
Germline

Chr16:23623099

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA395144411

rs_1219715328

4 SubmittersRCV000772898 RCV001388158

NM_024675.4(PALB2):c.2522C>T (p.Thr841Ile)

SNV
Germline

Chr16:23629268

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA395123851

rs_1373085553

3 SubmittersRCV000773403 RCV003768340

NM_024675.4(PALB2):c.2336C>T (p.Ser779Leu)

SNV
Germline

Chr16:23629818

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Pancreatic cancer, susceptibility to, 3
Familial cancer of breast
Fanconi anemia complementation group N

Criteria Provided
Conflicting Classifications

CA395124994

rs_764509489

4 SubmittersRCV000773204 RCV000819396 RCV002507340

NM_024675.4(PALB2):c.1997C>T (p.Thr666Ile)

SNV
Germline

Chr16:23630157

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group N
Pancreatic cancer, susceptibility to, 3
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA395127183

rs_1567218311

5 SubmittersRCV000777409 RCV001869122 RCV002477779 RCV005358024

NM_024675.4(PALB2):c.1878A>G (p.Lys626=)

SNV
Germline

Chr16:23630276

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA494461216

rs_1567218624

3 SubmittersRCV000774266 RCV001468975

NM_024675.4(PALB2):c.1735G>A (p.Ala579Thr)

SNV
Germline

Chr16:23630419

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA395128318

rs_1567218910

3 SubmittersRCV000775969 RCV000804573

NM_024675.4(PALB2):c.1536C>A (p.Tyr512Ter)

SNV
Germline

Chr16:23635010

Pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA395130912

rs_1567220802

5 SubmittersRCV000773666 RCV000820180 RCV001030234

NM_024675.4(PALB2):c.1430C>A (p.Thr477Asn)

SNV
Germline

Chr16:23635116

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA395131289

rs_1567221020

3 SubmittersRCV000771646 RCV000817099

NM_024675.4(PALB2):c.1376A>G (p.Asp459Gly)

SNV
Germline

Chr16:23635170

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA279498431

rs_1031787378

4 SubmittersRCV000776558 RCV001030219

NM_024675.4(PALB2):c.352A>G (p.Ile118Val)

SNV
Germline

Chr16:23636194

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA395137667

rs_1567223015

3 SubmittersRCV000772634 RCV001064113

NM_024675.4(PALB2):c.341G>A (p.Gly114Glu)

SNV
Germline

Chr16:23636205

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA395137738

rs_1567223045

3 SubmittersRCV000774983 RCV003607351

NM_024675.4(PALB2):c.289T>C (p.Ser97Pro)

SNV
Germline

Chr16:23636257

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided

Criteria Provided
Conflicting Classifications

CA395138822

rs_1456296764

4 SubmittersRCV000775252 RCV001344073 RCV003166052

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_024675.4(PALB2):c.22C>A (p.Pro8Thr)

SNV
Germline

Chr16:23641136

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA395141153

rs_876660586

4 SubmittersRCV000773884 RCV001209051 RCV005367544

NM_032043.3(BRIP1):c.*6C>G

SNV
Germline

Chr17:61683290

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA913187792

rs_1567727060

2 SubmittersRCV000774080 RCV004788173

NM_032043.3(BRIP1):c.3261T>G (p.Asn1087Lys)

SNV
Germline

Chr17:61683785

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group J
Familial cancer of breast
Familial cancer of breast
Condition: not provided

Criteria Provided
Conflicting Classifications

CA400479105

rs_1567728557

6 SubmittersRCV000777508 RCV001340324 RCV004569484 RCV005225137

NM_032043.3(BRIP1):c.2467A>G (p.Arg823Gly)

SNV
Germline

Chr17:61715976

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ovarian cancer
Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA400479485

rs_1567755628

4 SubmittersRCV000777286 RCV003153835 RCV005213396

NM_032043.3(BRIP1):c.2142G>A (p.Trp714Ter)

SNV
Germline

Chr17:61744547

Pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA400483214

rs_1567781516

3 SubmittersRCV000776601 RCV004027296 RCV005225134

NM_032043.3(BRIP1):c.1809T>C (p.Ile603=)

SNV
Germline

Chr17:61780387

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group J
Familial cancer of breast
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA292281940

rs_370393808

5 SubmittersRCV000775418 RCV001445158 RCV004788180

NM_032043.3(BRIP1):c.1660C>T (p.Gln554Ter)

SNV
Germline

Chr17:61780974

Pathogenic

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group J
Familial cancer of breast
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA400480524

rs_777217004

4 SubmittersRCV000771280 RCV001869076 RCV003336175

NM_032043.3(BRIP1):c.1610T>A (p.Leu537His)

SNV
Germline

Chr17:61784288

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ovarian cancer
Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA400480937

rs_1567816751

3 SubmittersRCV000777287 RCV003153836 RCV005225136

NM_032043.3(BRIP1):c.1546G>A (p.Val516Ile)

SNV
Germline

Chr17:61784352

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group J
Familial cancer of breast
Condition: not provided

Criteria Provided
Conflicting Classifications

CA400481212

rs_1567816972

4 SubmittersRCV000777057 RCV001348473 RCV001546297

NM_007194.4(CHEK2):c.1530G>C (p.Gln510His)

SNV
Germline

Chr22:28689147

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Malignant tumor of breast
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA411092325

rs_1569104011

4 SubmittersRCV000773172 RCV001356114 RCV001236259

NM_000465.4(BARD1):c.216-16T>A

SNV
Germline

Chr2:214792461

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA2090472

rs_763760515

2 SubmittersRCV000774687 RCV002068513

NM_000465.4(BARD1):c.215+9T>G

SNV
Germline

Chr2:214797052

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA913188049

rs_1559441723

3 SubmittersRCV000774530 RCV001218258

NM_000051.4(ATM):c.2467-12T>C

SNV
Germline

Chr11:108267159

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA913188500

rs_1469467036

4 SubmittersRCV000772192 RCV002067242 RCV002464312 RCV004588183

NM_000051.4(ATM):c.2922-13T>C

SNV
Germline

Chr11:108271238

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

CA913187681

rs_1565424946

3 SubmittersRCV000772301 RCV004588186 RCV003768327

NM_000051.4(ATM):c.2467-4G>A

SNV
Germline

Chr11:108267167

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA913188503

rs_1555082048

3 SubmittersRCV000777416 RCV001430738 RCV005358025

NM_000051.4(ATM):c.3285-7T>C

SNV
Germline

Chr11:108279484

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast
Familial colorectal cancer type X

Criteria Provided
Conflicting Classifications

CA228363320

rs_913535107

4 SubmittersRCV000773651 RCV001503747 RCV004588210 RCV005358005

NM_000051.4(ATM):c.3402+1G>C

SNV
Germline

Chr11:108279609

Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Ataxia-telangiectasia syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA382517890

rs_1565439606

3 SubmittersRCV000773587 RCV005870849 RCV006464188

NM_000051.4(ATM):c.6452+6A>T

SNV
Germline

Chr11:108320064

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA913188405

rs_878853531

3 SubmittersRCV000772867 RCV001321029 RCV004588196

NM_000051.4(ATM):c.7308-11T>C

SNV
Germline

Chr11:108330203

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA913188476

rs_1565529149

3 SubmittersRCV000777382 RCV003605689 RCV004588230

NM_000051.4(ATM):c.7308-7A>G

SNV
Germline

Chr11:108330207

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA913188477

rs_1476284330

3 SubmittersRCV000774807 RCV005092281 RCV004588220

NM_000051.4(ATM):c.8851-16T>C

SNV
Germline

Chr11:108365066

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA913188452

rs_1565607217

4 SubmittersRCV000771493 RCV002067224 RCV004588171

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_000051.4(ATM):c.8787-12G>C

SNV
Germline

Chr11:108354799

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA913188444

rs_1565582204

3 SubmittersRCV000777639 RCV003605693 RCV004588234

NM_000051.4(ATM):c.2250+4G>A

SNV
Germline

Chr11:108256344

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA913188478

rs_1565395217

4 SubmittersRCV000773303 RCV003237352

NM_000051.4(ATM):c.2839-6T>C

SNV
Germline

Chr11:108271058

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA602132591

rs_1338486619

3 SubmittersRCV000772803 RCV001445494 RCV004588194

NM_024675.4(PALB2):c.2515-14T>A

SNV
Germline

Chr16:23629289

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA7963547

rs_752108348

3 SubmittersRCV000774629 RCV002061094

NM_024675.4(PALB2):c.1685-1G>A

SNV
Germline

Chr16:23630470

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA395128493

rs_1057520645

3 SubmittersRCV000773053 RCV001064056

NM_000051.4(ATM):c.5674+1G>T

SNV
Germline

Chr11:108304853

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA382546623

rs_1565482453

6 SubmittersRCV000774309 RCV001171405 RCV002259369 RCV002534132

NM_024675.4(PALB2):c.3201+4A>G

SNV
Germline

Chr16:23614000

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA621354618

rs_1226634357

3 SubmittersRCV000774968 RCV001304942

NM_024675.4(PALB2):c.2587-9T>C

SNV
Germline

Chr16:23626406

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided

Criteria Provided
Conflicting Classifications

CA494161343

rs_1567215613

4 SubmittersRCV000777528 RCV001050389 RCV003478478

NM_024675.4(PALB2):c.1685-10T>C

SNV
Germline

Chr16:23630479

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Hereditary cancer

Criteria Provided
Conflicting Classifications

CA913188779

rs_1567219034

4 SubmittersRCV000774865 RCV001491198 RCV005231318

NM_032043.3(BRIP1):c.1628+15C>T

SNV
Germline

Chr17:61784255

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group J
Familial cancer of breast
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA8690710

rs_751454994

3 SubmittersRCV000775420 RCV003768387 RCV005358011

NM_007194.4(CHEK2):c.445-1G>A

SNV
Germline

Chr22:28725125

Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA411107787

rs_587782830

5 SubmittersRCV000772223 RCV001856010

NM_032043.3(BRIP1):c.2380-1G>A

SNV
Germline

Chr17:61716064

Likely pathogenic

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group J
Familial cancer of breast
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA400479868

rs_1567756032

4 SubmittersRCV000772817 RCV000815797 RCV003336176

NM_032043.3(BRIP1):c.379+1G>A

SNV
Germline

Chr17:61857057

Likely pathogenic

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA400485258

rs_1437158047

3 SubmittersRCV000773739 RCV001856067

NM_032043.3(BRIP1):c.1936-5T>A

SNV
Germline

Chr17:61776567

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA913187801

rs_769767296

3 SubmittersRCV000772996 RCV001064820

NM_032043.3(BRIP1):c.1141-9A>T

SNV
Germline

Chr17:61799308

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA913187829

rs_1555607258

2 SubmittersRCV000773873 RCV004792447

NM_032043.3(BRIP1):c.205+6T>C

SNV
Germline

Chr17:61859790

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group J
Familial cancer of breast
Condition: not provided
Familial ovarian cancer

Criteria Provided
Conflicting Classifications

CA913188902

rs_1555618360

4 SubmittersRCV000772601 RCV001054796 RCV004760771 RCV005601099

NM_007194.4(CHEK2):c.1009-7T>G

SNV
Germline

Chr22:28696994

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10167747

rs_763174055

6 SubmittersRCV000777669 RCV000938891 RCV003320480 RCV003480810

NM_007194.4(CHEK2):c.684-7C>T

SNV
Germline

Chr22:28712024

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10167905

rs_745408471

5 SubmittersRCV000777674 RCV001417518 RCV003478480

NM_007194.4(CHEK2):c.445-2A>G

SNV
Germline

Chr22:28725126

Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA411107792

rs_1569158075

3 SubmittersRCV000777349 RCV000809261

NM_007194.4(CHEK2):c.793-12T>G

SNV
Germline

Chr22:28710071

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA913189036

rs_1555920271

2 SubmittersRCV000777551 RCV003117569

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_007194.4(CHEK2):c.1260-15T>G

SNV
Germline

Chr22:28695257

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA913189025

rs_1569112557

2 SubmittersRCV000772370 RCV002536627

NM_007194.4(CHEK2):c.445-11C>T

SNV
Germline

Chr22:28725135

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA638954372

rs_1024561307

3 SubmittersRCV000773806 RCV002067275

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_000051.4(ATM):c.1354A>G (p.Thr452Ala)

SNV
Germline

Chr11:108250819

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Breast and/or ovarian cancer
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA382533782

rs_1324524747

7 SubmittersRCV000779802 RCV001011140 RCV001054810 RCV001798977 RCV003472312

NM_000051.4(ATM):c.6280G>T (p.Glu2094Ter)

SNV
Germline

Chr11:108317454

Pathogenic/Likely pathogenic

Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382552001

rs_1565503182

3 SubmittersRCV000779786 RCV003472311

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.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.2759T>G (p.Leu920Ter)

SNV
Germline

Chr16:23624084

Pathogenic/Likely pathogenic

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA395145235

rs_1567214493

4 SubmittersRCV000780562 RCV002440616

NM_024675.4(PALB2):c.2616G>T (p.Val872=)

SNV
Germline

Chr16:23626368

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA494161299

rs_1567215519

6 SubmittersRCV000780565 RCV000878247 RCV001078566 RCV002440617

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_024675.4(PALB2):c.1121T>C (p.Ile374Thr)

SNV
Germline

Chr16:23635425

Conflicting classifications of pathogenicity

not specified
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA395133702

rs_1567221558

4 SubmittersRCV000781685 RCV000794017 RCV001009887

NM_024675.4(PALB2):c.761C>G (p.Ser254Ter)

SNV
Germline

Chr16:23635785

Pathogenic/Likely pathogenic

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Uterine corpus cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA395136152

rs_864622695

4 SubmittersRCV000780563 RCV001026625 RCV003128160

NM_032043.3(BRIP1):c.1661A>G (p.Gln554Arg)

SNV
Germline

Chr17:61780973

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA400480522

rs_1567813893

4 SubmittersRCV000781185 RCV001194761 RCV004601270 RCV006556672

NM_000051.4(ATM):c.7927+5G>A

SNV
Germline

Chr11:108332905

Conflicting classifications of pathogenicity

not specified
Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA913189715

rs_1299306446

4 SubmittersRCV000780897 RCV000797163 RCV002422670 RCV004027319

NM_032043.3(BRIP1):c.2379+1G>T

SNV
Germline

Chr17:61743012

Likely pathogenic

Familial cancer of breast
Condition: not provided
Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA400482517

rs_1555590286

6 SubmittersRCV000780048 RCV001569647 RCV002442600 RCV002536861

NM_000546.6(TP53):c.919+1G>A

SNV
Germline

Chr17:7673700

Pathogenic

Li-Fraumeni syndrome 1
Li-Fraumeni syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Adrenocortical carcinoma, hereditary
TP53-related disorder
Ovarian serous cystadenocarcinoma
Malignant tumor of esophagus
Familial cancer of breast
Nonpapillary renal cell carcinoma

Reviewed By Expert Panel

CA397836247

rs_1131691039

11 SubmittersRCV000782136 RCV000991150 RCV001578272 RCV003307417 RCV003992389 RCV004797621 RCV005897417 RCV005897415 RCV005897414 RCV005897416

NM_000051.4(ATM):c.467G>A (p.Trp156Ter)

SNV
Germline

Chr11:108235805

Pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast
ATM-related cancer predisposition

Reviewed By Expert Panel

CA382525484

rs_876658159

6 SubmittersRCV000784892 RCV001805849 RCV004027332 RCV005870861

NM_000546.6(TP53):c.592G>T (p.Glu198Ter)

SNV
Germline/somatic

Chr17:7674939

Pathogenic

Ovarian neoplasm
Li-Fraumeni syndrome
Melanoma
Malignant tumor of esophagus
Lung cancer
Familial cancer of breast
Ovarian serous cystadenocarcinoma

Criteria Provided
Single Submitter

CA397840529

rs_1567551854

3 SubmittersRCV000785326 RCV002535726 RCV005897438 RCV005897436 RCV005897439 RCV005897435 RCV005897437

NM_000546.6(TP53):c.497C>G (p.Ser166Ter)

SNV
Germline/somatic

Chr17:7675115

Pathogenic

Ovarian neoplasm
Familial cancer of breast
Li-Fraumeni syndrome 1

Criteria Provided
Single Submitter

CA397841830

rs_1555526101

2 SubmittersRCV000785317 RCV005367551

NC_000016.10:g.23626399T>C

SNV
Germline

Chr16:23626399

Conflicting classifications of pathogenicity

Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA395122290

rs_1060502787

2 SubmittersRCV002026378

NM_000546.6(TP53):c.993+1G>T

SNV
Germline/somatic

Chr17:7673534

Pathogenic

Ovarian neoplasm
Condition: not provided
Li-Fraumeni syndrome
Adrenal cortex carcinoma
Lung cancer
Ovarian serous cystadenocarcinoma
Colon adenocarcinoma
Familial cancer of breast

Criteria Provided
Single Submitter

CA287486498

rs_11575997

5 SubmittersRCV000785504 RCV000786815 RCV001062298 RCV004001541 RCV005901890 RCV005897443 RCV005897442 RCV005897441

NM_000546.6(TP53):c.783-1G>T

SNV
Germline/somatic

Chr17:7673838

Pathogenic/Likely pathogenic

Ovarian neoplasm
Condition: not provided
Li-Fraumeni syndrome
Neoplasm
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA397837291

rs_1555525367

6 SubmittersRCV000785242 RCV000786819 RCV001377112 RCV004669107 RCV004949896 RCV005897422

NM_000546.6(TP53):c.782+1G>A

SNV
Germline/somatic

Chr17:7674180

Pathogenic

Ovarian neoplasm
Li-Fraumeni syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Malignant tumor of esophagus
Familial cancer of breast
Sarcoma
Uterine carcinosarcoma
Squamous cell carcinoma of the head and neck
Gastric cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA10575449

rs_1555525429

5 SubmittersRCV000785278 RCV001063778 RCV001528108 RCV005762095 RCV005897425 RCV005897423 RCV005897426 RCV005897428 RCV005897424 RCV005897427

NM_000546.6(TP53):c.560-1G>A

SNV
Germline/somatic

Chr17:7674972

Pathogenic

Ovarian neoplasm
Condition: not provided
Hereditary cancer-predisposing syndrome
Adrenocortical carcinoma, hereditary
Li-Fraumeni syndrome
Neoplasm
Li-Fraumeni syndrome 1
Sarcoma
Ovarian serous cystadenocarcinoma
Uterine carcinosarcoma
Lung cancer
Malignant tumor of urinary bladder
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA397840949

rs_1202793339

8 SubmittersRCV000785507 RCV000786832 RCV001024314 RCV003472320 RCV002535728 RCV004669111 RCV004027349 RCV005901893 RCV005901894 RCV005901895 RCV005901896 RCV005901892 RCV005901891

NM_000546.6(TP53):c.375+1G>A

SNV
Germline/somatic

Chr17:7675993

Pathogenic/Likely pathogenic

Ovarian neoplasm
Condition: not provided
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1
Sarcoma
Glioma susceptibility 1
Gastric cancer
Ovarian serous cystadenocarcinoma
Squamous cell lung carcinoma
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA397844139

rs_1567555445

9 SubmittersRCV000785320 RCV000786839 RCV001021044 RCV001385498 RCV002290031 RCV005897432 RCV005897430 RCV005897433 RCV005897434 RCV005897431 RCV005897429

NM_024675.4(PALB2):c.2514+2T>C

SNV
Germline

Chr16:23629638

Likely pathogenic

Condition: not provided
Familial cancer of breast

Criteria Provided
Single Submitter

CA395123908

rs_1343145658

3 SubmittersRCV000786800 RCV006464232

NM_000546.6(TP53):c.993+2T>G

SNV
Germline

Chr17:7673533

Likely pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Familial prostate cancer
Squamous cell lung carcinoma

Criteria Provided
Multiple Submitters
No Conflicts

CA397835626

rs_1597359053

4 SubmittersRCV000786814 RCV002386367 RCV002249485 RCV005901917 RCV005901916

NM_000546.6(TP53):c.673-2A>T

SNV
Germline

Chr17:7674292

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Squamous cell carcinoma of the head and neck
Hepatocellular carcinoma
Familial cancer of breast
Mesothelioma

Criteria Provided
Multiple Submitters
No Conflicts

CA397839553

rs_1555525585

4 SubmittersRCV000786826 RCV002370059 RCV002535740 RCV005901922 RCV005901924 RCV005901921 RCV005901923

NM_000546.6(TP53):c.375+1G>T

SNV
Germline

Chr17:7675993

Pathogenic/Likely pathogenic

Condition: not provided
Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1
Squamous cell carcinoma of the head and neck
Gastric cancer
Adrenocortical carcinoma, hereditary
Ovarian serous cystadenocarcinoma
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA397844143

rs_1567555445

7 SubmittersRCV000786840 RCV000804919 RCV001021045 RCV002290035 RCV005901927 RCV005901929 RCV005901928 RCV005901930 RCV005901926

NM_000535.7(PMS2):c.451C>G (p.Arg151Gly)

SNV
Germline

Chr7:6002539

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 4

Criteria Provided
Conflicting Classifications

CA366744323

rs_758561884

4 SubmittersRCV001022626 RCV000993767 RCV002535819 RCV003467323

NM_024675.4(PALB2):c.2768T>G (p.Val923Gly)

SNV
Germline

Chr16:23624075

Conflicting classifications of pathogenicity

Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA395145174

rs_1597082876

2 SubmittersRCV000993768

NM_000465.4(BARD1):c.1790A>G (p.Tyr597Cys)

SNV
Germline

Chr2:214745742

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA2090173

rs_757953605

2 SubmittersRCV000791826 RCV001013167

NM_000465.4(BARD1):c.1519G>T (p.Val507Leu)

SNV
Germline

Chr2:214767531

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
BARD1-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA350448273

rs_2070094

5 SubmittersRCV000796413 RCV001011958 RCV005359536

NM_000465.4(BARD1):c.1338C>A (p.Tyr446Ter)

SNV
Germline

Chr2:214769289

Pathogenic

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA2090283

rs_761702998

4 SubmittersRCV000817773 RCV002381841

NM_000465.4(BARD1):c.1196T>G (p.Leu399Ter)

SNV
Germline

Chr2:214780678

Pathogenic/Likely pathogenic

Familial cancer of breast
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA350453780

rs_1172609046

5 SubmittersRCV000794208 RCV000985347 RCV001181191

NM_000465.4(BARD1):c.1192A>G (p.Thr398Ala)

SNV
Germline

Chr2:214780682

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA350453800

rs_1297661047

3 SubmittersRCV000799152 RCV001179161

NM_000465.4(BARD1):c.745A>G (p.Ile249Val)

SNV
Germline

Chr2:214781129

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2090388

rs_745462573

3 SubmittersRCV000805684 RCV002381771 RCV004721622

NM_000465.4(BARD1):c.664G>A (p.Ala222Thr)

SNV
Germline

Chr2:214781210

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA350456520

rs_1574820102

2 SubmittersRCV000807753 RCV002360988

NM_000465.4(BARD1):c.98C>T (p.Ala33Val)

SNV
Germline

Chr2:214809472

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
not specified

Criteria Provided
Conflicting Classifications

CA350465041

rs_1559454402

4 SubmittersRCV000802933 RCV002386435 RCV003226396

NM_000051.4(ATM):c.1972G>A (p.Asp658Asn)

SNV
Germline

Chr11:108253887

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast
ATM-related disorder

Criteria Provided
Conflicting Classifications

CA382536833

rs_1343017824

5 SubmittersRCV000795417 RCV002422702 RCV003467347 RCV004740453

NM_000051.4(ATM):c.2194A>G (p.Met732Val)

SNV
Germline

Chr11:108256284

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA382538939

rs_1415360560

7 SubmittersRCV000799669 RCV001189760 RCV001662827 RCV003230594

NM_000051.4(ATM):c.2877C>A (p.Tyr959Ter)

SNV
Germline

Chr11:108271102

Pathogenic/Likely pathogenic

Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382546837

rs_1057517253

2 SubmittersRCV000793034 RCV004569512

NM_000051.4(ATM):c.3250C>T (p.Gln1084Ter)

SNV
Germline

Chr11:108272818

Pathogenic

Ataxia-telangiectasia syndrome
Endometrial carcinoma
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382516057

rs_1386063673

4 SubmittersRCV000823859 RCV003128162 RCV005411583 RCV004029164

NM_000051.4(ATM):c.3275C>A (p.Ser1092Ter)

SNV
Germline

Chr11:108272843

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA382516223

rs_774197372

5 SubmittersRCV000793285 RCV001190560 RCV004027440 RCV006261065

NM_000051.4(ATM):c.3400A>G (p.Met1134Val)

SNV
Germline

Chr11:108279606

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA382517877

rs_1591632583

4 SubmittersRCV000818877 RCV001192169 RCV005401628

NM_000051.4(ATM):c.6108T>G (p.Tyr2036Ter)

SNV
Germline

Chr11:108316023

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA382550344

rs_3092826

4 SubmittersRCV000822334 RCV005243375 RCV005278678 RCV004029098

NM_000051.4(ATM):c.6415G>T (p.Glu2139Ter)

SNV
Germline

Chr11:108320021

Pathogenic/Likely pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Colonic neoplasm
Familial cancer of breast
Ataxia-telangiectasia syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA382553461

rs_1339238483

8 SubmittersRCV000806638 RCV001189507 RCV003155959 RCV001644830 RCV005047090

NM_000051.4(ATM):c.6697A>C (p.Ile2233Leu)

SNV
Germline

Chr11:108325434

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA382554918

rs_1385625521

3 SubmittersRCV000813121 RCV002363110 RCV003467466

NM_000051.4(ATM):c.7889T>A (p.Leu2630Ter)

SNV
Germline

Chr11:108332862

Pathogenic/Likely pathogenic

Ataxia-telangiectasia syndrome
Condition: not provided
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382561449

rs_1591178998

3 SubmittersRCV000823141 RCV005231396 RCV004029130

NM_000051.4(ATM):c.8373C>G (p.Tyr2791Ter)

SNV
Germline

Chr11:108343326

Pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382516530

rs_1060504292

4 SubmittersRCV000806145 RCV003353038 RCV004028236

NM_000051.4(ATM):c.8824C>T (p.Gln2942Ter)

SNV
Germline

Chr11:108354848

Pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382525913

rs_1591314316

3 SubmittersRCV000812165 RCV001018378 RCV004569679

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.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.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.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.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.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_024675.4(PALB2):c.3477G>A (p.Trp1159Ter)

SNV
Germline

Chr16:23603543

Pathogenic/Likely pathogenic

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA395137993

rs_1597061983

3 SubmittersRCV000811935 RCV004028753

NM_024675.4(PALB2):c.3277A>G (p.Ile1093Val)

SNV
Germline

Chr16:23607937

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA395139636

rs_1597066812

3 SubmittersRCV000792136 RCV004027409

NM_024675.4(PALB2):c.2942G>A (p.Ser981Asn)

SNV
Germline

Chr16:23623023

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA395144102

rs_1597081224

2 SubmittersRCV000805772 RCV005401618

NM_024675.4(PALB2):c.2773G>A (p.Val925Met)

SNV
Germline

Chr16:23624070

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA395145141

rs_180177125

2 SubmittersRCV000807391 RCV004028613

NM_024675.4(PALB2):c.2749G>A (p.Val917Ile)

SNV
Germline

Chr16:23624094

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
PALB2-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA395145267

rs_753767237

4 SubmittersRCV000815988 RCV001016480 RCV004545803 RCV005251230

NM_024675.4(PALB2):c.2566C>T (p.Gln856Ter)

SNV
Germline

Chr16:23629224

Pathogenic/Likely pathogenic

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA7963540

rs_770996884

6 SubmittersRCV000816115 RCV001015972

NM_024675.4(PALB2):c.2422G>T (p.Gly808Ter)

SNV
Germline

Chr16:23629732

Pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA395124318

rs_1064795507

1 SubmittersRCV000804000

NM_024675.4(PALB2):c.2329G>T (p.Asp777Tyr)

SNV
Germline

Chr16:23629825

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA395125061

rs_148026749

2 SubmittersRCV000811967 RCV001015206

NM_024675.4(PALB2):c.2218C>G (p.Gln740Glu)

SNV
Germline

Chr16:23629936

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA395125557

rs_1555460445

3 SubmittersRCV000813235 RCV001805889

NM_024675.4(PALB2):c.1781G>A (p.Arg594Lys)

SNV
Germline

Chr16:23630373

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA395128146

rs_1597091217

3 SubmittersRCV000794250 RCV001524353

NM_024675.4(PALB2):c.1779T>C (p.His593=)

SNV
Germline

Chr16:23630375

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA494461386

rs_1475548158

3 SubmittersRCV000808278 RCV001013149

NM_024675.4(PALB2):c.1647C>G (p.His549Gln)

SNV
Germline

Chr16:23634899

Conflicting classifications of pathogenicity

Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA395130140

rs_747842085

2 SubmittersRCV000812545

NM_024675.4(PALB2):c.1522C>T (p.Pro508Ser)

SNV
Germline

Chr16:23635024

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA395130967

rs_1597095773

2 SubmittersRCV000808247 RCV001012001

NM_024675.4(PALB2):c.1432T>C (p.Ser478Pro)

SNV
Germline

Chr16:23635114

Conflicting classifications of pathogenicity

Familial cancer of breast
not specified
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA395131285

rs_1597096071

3 SubmittersRCV000796364 RCV002249510 RCV002388440

NM_024675.4(PALB2):c.1129C>T (p.Gln377Ter)

SNV
Germline

Chr16:23635417

Pathogenic/Likely pathogenic

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA279498785

rs_929474806

5 SubmittersRCV000792959 RCV002325498

NM_024675.4(PALB2):c.1010T>A (p.Leu337Ter)

SNV
Germline

Chr16:23635536

Pathogenic

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA395134478

rs_45494092

2 SubmittersRCV000794532 RCV004027491

NM_024675.4(PALB2):c.512T>A (p.Leu171Ter)

SNV
Germline

Chr16:23636034

Pathogenic

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA395137012

rs_876658979

2 SubmittersRCV000798117 RCV004944161

NM_024675.4(PALB2):c.254A>G (p.Lys85Arg)

SNV
Germline

Chr16:23636292

Conflicting classifications of pathogenicity

Familial cancer of breast
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA395138897

rs_1597099769

3 SubmittersRCV000791662 RCV001030139 RCV004944140

NM_004360.5(CDH1):c.26C>A (p.Ser9Ter)

SNV
Germline

Chr16:68737441

Pathogenic

Hereditary diffuse gastric adenocarcinoma
Condition: not provided
Hereditary cancer-predisposing syndrome
CDH1-related diffuse gastric and lobular breast cancer syndrome
Familial cancer of breast

Reviewed By Expert Panel

CA396451339

rs_1555509646

6 SubmittersRCV000807442 RCV001284128 RCV001191172 RCV003328471 RCV003472394

NM_004360.5(CDH1):c.28G>A (p.Ala10Thr)

SNV
Germline

Chr16:68737443

Conflicting classifications of pathogenicity

Hereditary diffuse gastric adenocarcinoma
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA283273446

rs_1053572488

3 SubmittersRCV000804491 RCV002440707 RCV004569614

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_032043.3(BRIP1):c.3686T>C (p.Ile1229Thr)

SNV
Germline

Chr17:61683360

Conflicting classifications of pathogenicity

Familial cancer of breast
Fanconi anemia complementation group J
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA400477824

rs_1157058742

2 SubmittersRCV000824351 RCV004950012

NM_032043.3(BRIP1):c.3422A>C (p.Asp1141Ala)

SNV
Germline

Chr17:61683624

Conflicting classifications of pathogenicity

Familial cancer of breast
Fanconi anemia complementation group J
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA292267261

rs_1034551306

3 SubmittersRCV000797364 RCV001187109

NM_032043.3(BRIP1):c.2884A>G (p.Ile962Val)

SNV
Germline

Chr17:61685857

Conflicting classifications of pathogenicity

Familial cancer of breast
Fanconi anemia complementation group J
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA400481185

rs_1603276520

3 SubmittersRCV000810773 RCV004702441

NM_032043.3(BRIP1):c.2776G>A (p.Ala926Thr)

SNV
Germline

Chr17:61685965

Conflicting classifications of pathogenicity

Familial cancer of breast
Fanconi anemia complementation group J
Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA292268093

rs_1003917080

4 SubmittersRCV000816540 RCV001016557 RCV001127856 RCV001575873

NM_032043.3(BRIP1):c.2707C>A (p.Gln903Lys)

SNV
Germline

Chr17:61686034

Conflicting classifications of pathogenicity

Fanconi anemia complementation group J
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA400481699

rs_1603276837

3 SubmittersRCV000795930 RCV001188268

NM_032043.3(BRIP1):c.1993C>T (p.Gln665Ter)

SNV
Germline

Chr17:61776505

Pathogenic

Familial cancer of breast
Fanconi anemia complementation group J
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA400478426

rs_1603328780

3 SubmittersRCV000807659 RCV002422772 RCV003336202

NM_032043.3(BRIP1):c.1694C>T (p.Ser565Leu)

SNV
Germline

Chr17:61780940

Conflicting classifications of pathogenicity

Familial cancer of breast
Fanconi anemia complementation group J
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA400480447

rs_1603334619

3 SubmittersRCV000820818 RCV001776040 RCV003169013

NM_032043.3(BRIP1):c.1618C>T (p.Gln540Ter)

SNV
Germline

Chr17:61784280

Pathogenic

Familial cancer of breast
Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA400480903

rs_1603336897

2 SubmittersRCV000816751 RCV003336216

NM_032043.3(BRIP1):c.1534G>T (p.Glu512Ter)

SNV
Germline

Chr17:61784364

Pathogenic

Familial cancer of breast
Fanconi anemia complementation group J

Criteria Provided
Single Submitter

CA400481264

rs_1603336980

1 SubmittersRCV000811244

NM_032043.3(BRIP1):c.1186C>G (p.His396Asp)

SNV
Germline

Chr17:61799254

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

Criteria Provided
Conflicting Classifications

CA400483735

rs_1603342316

4 SubmittersRCV000816776 RCV000985635 RCV001010215 RCV001194729

NM_032043.3(BRIP1):c.446A>G (p.Asp149Gly)

SNV
Germline

Chr17:61849190

Conflicting classifications of pathogenicity

Familial cancer of breast
Fanconi anemia complementation group J
Hereditary cancer-predisposing syndrome
not specified

Criteria Provided
Conflicting Classifications

CA8690932

rs_770613242

4 SubmittersRCV000809093 RCV001022529 RCV006459936

NM_032043.3(BRIP1):c.441C>G (p.Tyr147Ter)

SNV
Germline

Chr17:61849195

Pathogenic

Familial cancer of breast
Fanconi anemia complementation group J

Criteria Provided
Single Submitter

CA400484490

rs_1603362622

1 SubmittersRCV000802169

NM_007194.4(CHEK2):c.1461G>C (p.Gln487His)

SNV
Germline

Chr22:28694032

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA411093862

rs_1060502701

3 SubmittersRCV000805589 RCV002388516

NM_007194.4(CHEK2):c.1355G>A (p.Trp452Ter)

SNV
Germline

Chr22:28695147

Pathogenic/Likely pathogenic

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA411095534

rs_1601719186

4 SubmittersRCV000805833 RCV002381773

NM_007194.4(CHEK2):c.655G>T (p.Glu219Ter)

SNV
Germline

Chr22:28719423

Pathogenic/Likely pathogenic

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA411104942

rs_1601805632

3 SubmittersRCV000815160 RCV005251229

NM_007194.4(CHEK2):c.575C>A (p.Ser192Ter)

SNV
Germline

Chr22:28724994

Pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA323032935

rs_899211928

1 SubmittersRCV000794492

NM_007194.4(CHEK2):c.408C>A (p.Tyr136Ter)

SNV
Germline

Chr22:28725279

Pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA323033338

rs_911826883

1 SubmittersRCV000823637

NM_007194.4(CHEK2):c.31C>T (p.Gln11Ter)

SNV
Germline

Chr22:28734691

Pathogenic/Likely pathogenic

Familial cancer of breast
Hereditary cancer-predisposing syndrome
CHEK2-related cancer predisposition
Familial prostate cancer
Bone osteosarcoma

Criteria Provided
Multiple Submitters
No Conflicts

CA411091990

rs_1349961118

4 SubmittersRCV000821423 RCV002442757 RCV005036219

NM_000465.4(BARD1):c.1903+2T>C

SNV
Germline

Chr2:214745065

Likely pathogenic

Familial cancer of breast
Breast carcinoma
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA350452039

rs_1574737047

4 SubmittersRCV000823921 RCV001568338 RCV005520359

NM_000051.4(ATM):c.72+2T>C

SNV
Germline

Chr11:108227698

Pathogenic/Likely pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382519400

rs_1591446206

5 SubmittersRCV000811409 RCV001182079 RCV004028724

NM_000051.4(ATM):c.6976-1G>T

SNV
Germline

Chr11:108327644

Pathogenic/Likely pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382557712

rs_1591141963

4 SubmittersRCV000805322 RCV001025869 RCV004028215

NM_000051.4(ATM):c.8010+2T>C

SNV
Germline

Chr11:108333970

Likely pathogenic

Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382561824

rs_1591184927

2 SubmittersRCV000807935 RCV003316812

NM_000051.4(ATM):c.3285-2A>G

SNV
Germline

Chr11:108279489

Pathogenic

Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382517203

rs_1591631876

2 SubmittersRCV000791610 RCV001310100

NM_000051.4(ATM):c.4237-2A>G

SNV
Germline

Chr11:108289600

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA382530884

rs_1591662492

4 SubmittersRCV000815087 RCV004569708 RCV003362973

NM_000051.4(ATM):c.5496+2T>G

SNV
Germline

Chr11:108303031

Likely pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382544535

rs_1591713093

4 SubmittersRCV000799380 RCV002345779 RCV004027994

NM_000051.4(ATM):c.4910-2A>G

SNV
Germline

Chr11:108297285

Likely pathogenic

Ataxia-telangiectasia syndrome
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA382537931

rs_1555103156

3 SubmittersRCV000818652 RCV004028965 RCV005502919

NM_000051.4(ATM):c.5006-1G>A

SNV
Germline

Chr11:108299713

Likely pathogenic

Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382539971

rs_1591701799

2 SubmittersRCV000799506 RCV005870889

NM_000051.4(ATM):c.5918+1G>A

SNV
Germline

Chr11:108310316

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA382548614

rs_1591746871

4 SubmittersRCV000818081 RCV004028941 RCV004720008 RCV002352441

NM_000051.4(ATM):c.72+4G>A

SNV
Germline

Chr11:108227700

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA601693770

rs_1458884973

3 SubmittersRCV000793787 RCV004588253 RCV005268751

NM_000051.4(ATM):c.6199-1G>T

SNV
Germline

Chr11:108317372

Pathogenic

Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382551003

rs_1591788932

2 SubmittersRCV000821811 RCV003467509

NM_000051.4(ATM):c.6573-9G>A

SNV
Germline

Chr11:108325301

Pathogenic/Likely pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA915947665

rs_1591128179

3 SubmittersRCV000795488 RCV003307434 RCV004027523

NM_024675.4(PALB2):c.212-2A>C

SNV
Germline

Chr16:23636336

Conflicting classifications of pathogenicity

Familial cancer of breast
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA395138999

rs_730881879

6 SubmittersRCV000793896 RCV001268209 RCV002422689

NM_024675.4(PALB2):c.3113+5G>A

SNV
Germline

Chr16:23621357

Likely pathogenic

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
Uterine corpus endometrial carcinoma

Criteria Provided
Multiple Submitters
No Conflicts

CA915949162

rs_876659463

4 SubmittersRCV000821488 RCV002319908 RCV005231391 RCV005902092

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_032043.3(BRIP1):c.2097+1G>T

SNV
Germline

Chr17:61776400

Likely pathogenic

Familial cancer of breast
Fanconi anemia complementation group J

Criteria Provided
Single Submitter

CA400477947

rs_786202941

1 SubmittersRCV000821425

NM_032043.3(BRIP1):c.1936-1G>C

SNV
Germline

Chr17:61776563

Likely pathogenic

Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Single Submitter

CA400478663

rs_1555601204

1 SubmittersRCV000795180

NM_032043.3(BRIP1):c.1794+1G>C

SNV
Germline

Chr17:61780839

Likely pathogenic

Familial cancer of breast
Fanconi anemia complementation group J
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA400480243

rs_766516963

3 SubmittersRCV000816078 RCV003336214 RCV003380748

NM_007194.4(CHEK2):c.593-1G>C

SNV
Germline

Chr22:28719486

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA411105161

rs_786203229

3 SubmittersRCV000813820 RCV001024696

NM_007194.4(CHEK2):c.319+1G>T

SNV
Germline

Chr22:28734402

Likely pathogenic

Familial cancer of breast
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA411090151

rs_765080766

4 SubmittersRCV000792964 RCV000997892 RCV002325499

NM_032043.3(BRIP1):c.2493-2A>G

SNV
Germline

Chr17:61693514

Likely pathogenic

Fanconi anemia complementation group J
Familial cancer of breast
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA400482512

rs_1603280621

3 SubmittersRCV000795616 RCV003336190 RCV005055446

NM_032043.3(BRIP1):c.628-1G>A

SNV
Germline

Chr17:61808758

Likely pathogenic

Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Single Submitter

CA400485251

rs_1219435870

1 SubmittersRCV000796323

NM_032043.3(BRIP1):c.93+2T>C

SNV
Germline

Chr17:61861445

Likely pathogenic

Familial cancer of breast
Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA400485890

rs_775755739

2 SubmittersRCV000811822 RCV003336211

NM_032043.3(BRIP1):c.2575+6A>G

SNV
Germline

Chr17:61693424

Conflicting classifications of pathogenicity

Familial cancer of breast
Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA915950694

rs_1555574710

2 SubmittersRCV000810694 RCV003472409

NM_007194.4(CHEK2):c.592+1G>A

SNV
Germline

Chr22:28724976

Pathogenic/Likely pathogenic

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA411106888

rs_1601822722

3 SubmittersRCV000806398 RCV002352383

NM_007194.4(CHEK2):c.1375+1G>A

SNV
Germline

Chr22:28695126

Likely pathogenic

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA10167671

rs_759706360

6 SubmittersRCV000806336 RCV001180798

NM_001018115.3(FANCD2):c.2715+1G>A

SNV
Germline

Chr3:10073363

Pathogenic

Fanconi anemia
Fanconi anemia complementation group D2
Condition: not provided
Lymphoma
Monogenic short statue
Familial cancer of breast
Pigmentary skin disorders

Criteria Provided
Multiple Submitters
No Conflicts

CA2250154

rs_201811817

13 SubmittersRCV000826140 RCV001194925 RCV001593026 RCV005902149 RCV005865400 RCV005902148 RCV006255184

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_022098.4(XPNPEP3):c.817A>G (p.Ser273Gly)

SNV
Germline

Chr22:40907611

Conflicting classifications of pathogenicity

Nephronophthisis-like nephropathy 1
Inborn genetic diseases
XPNPEP3-related disorder
Melanoma
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA10251758

rs_138501598

5 SubmittersRCV000860450 RCV002536218 RCV003908143 RCV005906962 RCV005906961

NM_000501.4(ELN):c.1994-7T>G

SNV
Germline

Chr7:74065687

Conflicting classifications of pathogenicity

Supravalvar aortic stenosis
Cutis laxa, autosomal dominant 1
Condition: not provided
ELN-related disorder
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA4293342

rs_375277198

6 SubmittersRCV000863362 RCV001158791 RCV001571307 RCV004540172 RCV005907003

NM_014846.4(WASHC5):c.1522-10T>A

SNV
Germline

Chr8:125059552

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia
Hereditary spastic paraplegia 8
Ritscher-Schinzel syndrome
Ovarian serous cystadenocarcinoma
Familial cancer of breast
Lymphoma

Criteria Provided
Conflicting Classifications

CA4873791

rs_200283018

4 SubmittersRCV000863939 RCV001847047 RCV003768649 RCV005907008 RCV005907006 RCV005907007

NM_007194.4(CHEK2):c.126T>A (p.Ser42=)

SNV
Germline

Chr22:28734596

Conflicting classifications of pathogenicity

Condition: not provided
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA513946591

rs_1601853112

4 SubmittersRCV000865222 RCV001498793 RCV003307600

NM_024675.4(PALB2):c.2202T>C (p.Thr734=)

SNV
Germline

Chr16:23629952

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA494461110

rs_1278216949

4 SubmittersRCV001499662 RCV002427183 RCV003478554

NM_020751.3(COG6):c.1693-7T>A

SNV
Germline

Chr13:39724501

Conflicting classifications of pathogenicity

COG6-congenital disorder of glycosylation
Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome
COG6-congenital disorder of glycosylation
Familial cancer of breast
Uterine corpus endometrial carcinoma
Ovarian serous cystadenocarcinoma
Lung cancer
Clear cell carcinoma of kidney
Acute myeloid leukemia

Criteria Provided
Conflicting Classifications

CA6958762

rs_34566895

3 SubmittersRCV000872384 RCV001113267 RCV005907120 RCV005907125 RCV005907123 RCV005907124 RCV005907122 RCV005907121

NM_032043.3(BRIP1):c.2906-7T>C

SNV
Germline

Chr17:61684147

Conflicting classifications of pathogenicity

Familial cancer of breast
Fanconi anemia complementation group J
Hereditary cancer-predisposing syndrome
Breast and/or ovarian cancer
Familial cancer of breast
Condition: not provided

Criteria Provided
Conflicting Classifications

CA773770654

rs_1237575383

6 SubmittersRCV000875557 RCV001190780 RCV001799003 RCV004792564 RCV005243392

NM_000883.4(IMPDH1):c.189A>G (p.Ser63=)

SNV
Germline

Chr7:128409442

Conflicting classifications of pathogenicity

Condition: not provided
Retinitis pigmentosa
Leber congenital amaurosis 11
IMPDH1-related disorder
Familial cancer of breast
Thyroid cancer, nonmedullary, 1

Criteria Provided
Conflicting Classifications

CA4471256

rs_143796089

5 SubmittersRCV000945885 RCV001165039 RCV001165040 RCV004735905 RCV005903240 RCV005903241

NM_001385012.1(NBEA):c.7039A>G (p.Ile2347Val)

SNV
Germline

Chr13:35583901

Conflicting classifications of pathogenicity

Condition: not provided
NBEA-related disorder
Clear cell carcinoma of kidney
Thyroid cancer, nonmedullary, 1
Melanoma
Cervical cancer
Malignant tumor of urinary bladder
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA6947677

rs_189755961

5 SubmittersRCV000948918 RCV003978180 RCV005905160 RCV005905161 RCV005905162 RCV005905159 RCV005905158 RCV005905157

NM_014714.4(IFT140):c.1593G>T (p.Gly531=)

SNV
Germline

Chr16:1571466

Conflicting classifications of pathogenicity

Saldino-Mainzer syndrome
Condition: not provided
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA7814216

rs_143491016

4 SubmittersRCV000945498 RCV003235437 RCV005903227

NM_183050.4(BCKDHB):c.633G>C (p.Lys211Asn)

SNV
Germline

Chr6:80169030

Conflicting classifications of pathogenicity

Maple syrup urine disease
Maple syrup urine disease type 1B
BCKDHB-related disorder
Maple syrup urine disease type 1A
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA3902660

rs_143427811

6 SubmittersRCV000973811 RCV001273120 RCV003928566 RCV005630372 RCV005910582

NM_024675.4(PALB2):c.1621A>C (p.Arg541=)

SNV
Germline

Chr16:23634925

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA494461352

rs_1597095457

5 SubmittersRCV000966551 RCV001805944 RCV001407327

NM_130398.4(EXO1):c.2212-1G>C

SNV
Germline

Chr1:241885313

Conflicting classifications of pathogenicity

Condition: not provided
EXO1-related disorder
Clear cell carcinoma of kidney
Malignant tumor of esophagus
Cervical cancer
Chronic lymphocytic leukemia/small lymphocytic lymphoma
Acute myeloid leukemia
Lung cancer
Malignant lymphoma, large B-cell, diffuse
Colon adenocarcinoma
Colorectal cancer
Ovarian serous cystadenocarcinoma
Melanoma
Familial cancer of breast
Ovarian cancer

Criteria Provided
Conflicting Classifications

CA1481571

rs_4150000

4 SubmittersRCV000879926 RCV003908397 RCV005902386 RCV005907334 RCV005902384 RCV005902392 RCV005907333 RCV005902391 RCV005902387 RCV005907332 RCV005902388 RCV005902389 RCV005902390 RCV005907331 RCV005902385

NM_033109.5(PNPT1):c.412A>G (p.Ile138Val)

SNV
Germline

Chr2:55683826

Conflicting classifications of pathogenicity

Condition: not provided
Combined oxidative phosphorylation defect type 13
Inborn genetic diseases
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA1668484

rs_76401964

5 SubmittersRCV000907438 RCV001336836 RCV006367461 RCV005907728

NM_000048.4(ASL):c.1263G>A (p.Ser421=)

SNV
Germline

Chr7:66092780

Conflicting classifications of pathogenicity

Argininosuccinate lyase deficiency
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA4277369

rs_542163407

3 SubmittersRCV000895197 RCV005906315

NM_003118.4(SPARC):c.120+5G>A

SNV
Germline

Chr5:151674607

Conflicting classifications of pathogenicity

Condition: not provided
SPARC-related disorder
Ovarian serous cystadenocarcinoma
Lung cancer
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA3522824

rs_199932910

5 SubmittersRCV000900537 RCV003950557 RCV005907494 RCV005907495 RCV005907493

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_182943.3(PLOD2):c.1126A>C (p.Met376Leu)

SNV
Germline

Chr3:146086788

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Clear cell carcinoma of kidney
Ovarian serous cystadenocarcinoma
Hepatocellular carcinoma
Malignant tumor of esophagus
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA2655022

rs_140613062

3 SubmittersRCV000913394 RCV003994163 RCV005902985 RCV005902986 RCV005902983 RCV005902984 RCV005902982

NM_000251.3(MSH2):c.943-5A>G

SNV
Germline

Chr2:47416291

Conflicting classifications of pathogenicity

Hereditary nonpolyposis colorectal neoplasms
Hereditary cancer-predisposing syndrome
Lynch syndrome 1
Malignant tumor of urinary bladder
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA769457476

rs_1057521671

5 SubmittersRCV000920201 RCV002445021 RCV005249306 RCV005903074 RCV005367626

NM_000465.4(BARD1):c.2001+10T>C

SNV
Germline

Chr2:214730401

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2090105

rs_769194998

4 SubmittersRCV001188788 RCV001411340 RCV006261168

NM_015650.4(TRAF3IP1):c.1451+5G>A

SNV
Germline

Chr2:238349413

Conflicting classifications of pathogenicity

Condition: not provided
Colorectal cancer
Ovarian cancer
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA2198449

rs_200601081

3 SubmittersRCV000922947 RCV005903099 RCV005903098 RCV005903097

NM_000051.4(ATM):c.2838+8A>G

SNV
Germline

Chr11:108268617

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Condition: not provided
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA671407684

rs_1295524564

3 SubmittersRCV000925978 RCV006261167 RCV004588334

NM_004360.5(CDH1):c.1008+8G>T

SNV
Germline

Chr16:68811867

Conflicting classifications of pathogenicity

Hereditary diffuse gastric adenocarcinoma
Ovarian cancer
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA283300378

rs_990193541

4 SubmittersRCV000989621 RCV005359665

NM_007194.4(CHEK2):c.847-7T>C

SNV
Germline

Chr22:28703573

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA915952858

rs_1057520267

5 SubmittersRCV000924571 RCV001181721 RCV006261165

NM_000094.4(COL7A1):c.7416C>T (p.Gly2472=)

SNV
Germline

Chr3:48570299

Conflicting classifications of pathogenicity

Condition: not provided
Generalized dominant dystrophic epidermolysis bullosa
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA2378513

rs_142651194

4 SubmittersRCV000944866 RCV001275474 RCV005903221

NM_000051.4(ATM):c.4890C>T (p.Asp1630=)

SNV
Germline

Chr11:108295040

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA476674557

rs_1591685165

4 SubmittersRCV000934122 RCV001189849 RCV004588353

NM_032043.3(BRIP1):c.2958C>T (p.Ser986=)

SNV
Germline

Chr17:61684088

Conflicting classifications of pathogenicity

Condition: not provided
Familial cancer of breast
Fanconi anemia complementation group J
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA501143297

rs_1603275662

5 SubmittersRCV000938033 RCV001459592 RCV004029666 RCV004789267

NM_032043.3(BRIP1):c.2913A>G (p.Pro971=)

SNV
Germline

Chr17:61684133

Conflicting classifications of pathogenicity

Condition: not provided
Fanconi anemia complementation group J
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA501143329

rs_1603275716

4 SubmittersRCV000944188 RCV001087205 RCV001016943 RCV004792583

NM_000465.4(BARD1):c.364+7A>G

SNV
Germline

Chr2:214792290

Conflicting classifications of pathogenicity

Familial cancer of breast
Condition: not provided

Criteria Provided
Conflicting Classifications

CA764553006

rs_1475396127

3 SubmittersRCV001464483 RCV004997514

NM_000051.4(ATM):c.332-7G>A

SNV
Germline

Chr11:108235663

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA915947710

rs_1591474291

3 SubmittersRCV001179745 RCV001481944 RCV004588339

NM_000051.4(ATM):c.5005+7T>C

SNV
Germline

Chr11:108297389

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6265593

rs_527286038

7 SubmittersRCV000933594 RCV003330999 RCV001179337 RCV004588350 RCV005392560 RCV004997509

NM_007194.4(CHEK2):c.792+7A>G

SNV
Germline

Chr22:28711902

Conflicting classifications of pathogenicity

Familial cancer of breast
Condition: not provided

Criteria Provided
Conflicting Classifications

CA915952860

rs_1601782720

3 SubmittersRCV001500614 RCV004997518

NM_001752.4(CAT):c.903+5G>T

SNV
Germline

Chr11:34456207

Conflicting classifications of pathogenicity

Condition: not provided
Acatalasia
CAT-related disorder
Uterine corpus endometrial carcinoma
Sarcoma
Thymoma
Colon adenocarcinoma
Ovarian serous cystadenocarcinoma
Malignant tumor of esophagus
Lung cancer
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA5944458

rs_147912187

4 SubmittersRCV000952960 RCV001258291 RCV003978244 RCV005906727 RCV005906723 RCV005906725 RCV005906721 RCV005906724 RCV005906722 RCV005906726 RCV005906720

NM_000051.4(ATM):c.903T>A (p.Gly301=)

SNV
Germline

Chr11:108246965

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA476671493

rs_876659335

4 SubmittersRCV000982171 RCV003169514 RCV004588432

NM_000051.4(ATM):c.3691T>C (p.Leu1231=)

SNV
Germline

Chr11:108282824

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA476673312

rs_1210990672

4 SubmittersRCV000983749 RCV002256639 RCV004588443

NM_000051.4(ATM):c.7365G>A (p.Leu2455=)

SNV
Germline

Chr11:108330271

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA476676868

rs_756506590

4 SubmittersRCV000978983 RCV001026325 RCV004588416 RCV004997543

NM_032043.3(BRIP1):c.2019A>G (p.Gln673=)

SNV
Germline

Chr17:61776479

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA292280832

rs_1008150951

5 SubmittersRCV000979926 RCV001189285 RCV001078735 RCV004792595

NM_007194.4(CHEK2):c.1462-5C>T

SNV
Germline

Chr22:28689220

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA915952835

rs_1601702602

4 SubmittersRCV001422112 RCV003363034 RCV006261190

NM_007194.4(CHEK2):c.1462-5C>G

SNV
Germline

Chr22:28689220

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA915952836

rs_1601702602

2 SubmittersRCV001491065 RCV003353102

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_000465.4(BARD1):c.867A>G (p.Pro289=)

SNV
Germline

Chr2:214781007

Conflicting classifications of pathogenicity

Condition: not provided
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA431391832

rs_1574818859

2 SubmittersRCV000985354 RCV002549646

NM_000465.4(BARD1):c.363A>T (p.Ser121=)

SNV
Germline

Chr2:214792298

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA431141325

rs_1553624704

3 SubmittersRCV000985353 RCV001020779 RCV002549645

NM_024675.4(PALB2):c.1919C>T (p.Ser640Leu)

SNV
Germline

Chr16:23630235

Conflicting classifications of pathogenicity

Condition: not provided
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA395127513

rs_760094988

4 SubmittersRCV000985888 RCV003473528 RCV004030102

NM_032043.3(BRIP1):c.1950C>T (p.Thr650=)

SNV
Germline

Chr17:61776548

Conflicting classifications of pathogenicity

Condition: not provided
Familial cancer of breast
Fanconi anemia complementation group J
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA501150212

rs_1603328999

3 SubmittersRCV000985638 RCV002067567 RCV003307786

NM_000465.4(BARD1):c.1810+3G>A

SNV
Germline

Chr2:214745719

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA764567776

rs_1310430913

5 SubmittersRCV000985350 RCV001013208 RCV001035011

NM_007194.4(CHEK2):c.793-1G>T

SNV
Germline

Chr22:28710060

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA10167857

rs_730881687

4 SubmittersRCV000985704 RCV001026971 RCV003467536

NM_000051.4(ATM):c.75A>G (p.Lys25=)

SNV
Germline

Chr11:108227778

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA476667988

rs_1591446716

5 SubmittersRCV000988636 RCV002473160 RCV004588447 RCV005268847

NM_000051.4(ATM):c.497-1G>T

SNV
Germline

Chr11:108243952

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA382527391

rs_778624615

6 SubmittersRCV000988640 RCV001805955 RCV003467549

NM_000051.4(ATM):c.1237C>T (p.Leu413=)

SNV
Germline

Chr11:108250702

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA476671864

rs_1565381686

4 SubmittersRCV000988660 RCV002363514 RCV004588448

NM_000051.4(ATM):c.3485T>G (p.Leu1162Ter)

SNV
Germline

Chr11:108281077

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA382519550

rs_1591636613

6 SubmittersRCV000988678 RCV001020416 RCV003467550 RCV006261195

NM_024675.4(PALB2):c.1917G>T (p.Glu639Asp)

SNV
Germline

Chr16:23630237

Conflicting classifications of pathogenicity

Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA395127520

rs_1597090787

2 SubmittersRCV000989564

NM_032043.3(BRIP1):c.3460A>G (p.Arg1154Gly)

SNV
Germline

Chr17:61683586

Conflicting classifications of pathogenicity

Familial cancer of breast
Familial cancer of breast
Fanconi anemia complementation group J
not specified
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA8690362

rs_769359514

4 SubmittersRCV000989976 RCV001210225 RCV001732008 RCV002454235

NM_032043.3(BRIP1):c.2906-1G>A

SNV
Germline/somatic

Chr17:61684141

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group J
Thyroid cancer, nonmedullary, 1
Neoplasm
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8690423

rs_773639563

7 SubmittersRCV000989987 RCV001182221 RCV001858716 RCV005912173 RCV006274097 RCV004721693

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_000051.4(ATM):c.6205C>T (p.Gln2069Ter)

SNV
Germline

Chr11:108317379

Pathogenic

Ataxia-telangiectasia syndrome
Familial cancer of breast
Ataxia-telangiectasia syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA382551038

rs_1555114563

3 SubmittersRCV000995496 RCV005047174

NM_001457.4(FLNB):c.1640C>T (p.Ala547Val)

SNV
Germline

Chr3:58105109

Conflicting classifications of pathogenicity

not specified
FLNB-Related Spectrum Disorders
Condition: not provided
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA2467888

rs_200619215

4 SubmittersRCV001000235 RCV001145814 RCV001464554 RCV005912285

NM_001042492.3(NF1):c.7739-3C>G

SNV
Germline

Chr17:31356957

Pathogenic

Neurofibromatosis, type 1
Familial cancer of breast

Criteria Provided
Single Submitter

CA915949885

rs_747382969

2 SubmittersRCV001007762 RCV005912373

NM_000465.4(BARD1):c.2293G>A (p.Asp765Asn)

SNV
Germline

Chr2:214728717

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA350449844

rs_1574701742

3 SubmittersRCV001015043 RCV003607375

NM_000465.4(BARD1):c.2242G>T (p.Glu748Ter)

SNV
Germline

Chr2:214728768

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Malignant tumor of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA350450017

rs_879253880

5 SubmittersRCV001014907 RCV001221656 RCV001844259

NM_000465.4(BARD1):c.2074A>C (p.Ile692Leu)

SNV
Germline

Chr2:214728936

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA350450670

rs_1574703604

2 SubmittersRCV001014332 RCV001231015

NM_000465.4(BARD1):c.2050A>T (p.Lys684Ter)

SNV
Germline

Chr2:214728960

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA350450722

rs_1559372578

4 SubmittersRCV001014202 RCV001037336

NM_000465.4(BARD1):c.1546T>C (p.Tyr516His)

SNV
Germline

Chr2:214767504

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA350448159

rs_1574788120

2 SubmittersRCV001012051 RCV001860690

NM_000465.4(BARD1):c.1259T>C (p.Met420Thr)

SNV
Germline

Chr2:214780615

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
BARD1-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA64787878

rs_786203217

5 SubmittersRCV001010618 RCV001546324 RCV001860642 RCV005359748

NM_000465.4(BARD1):c.1147A>G (p.Met383Val)

SNV
Germline

Chr2:214780727

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA2090336

rs_761516178

3 SubmittersRCV001017464 RCV001039125

NM_000465.4(BARD1):c.1054G>A (p.Val352Met)

SNV
Germline

Chr2:214780820

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA64788270

rs_587782475

2 SubmittersRCV001017153 RCV005093153

NM_000465.4(BARD1):c.994A>G (p.Ile332Val)

SNV
Germline

Chr2:214780880

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA2090351

rs_543606863

2 SubmittersRCV001019922 RCV001227085

NM_000465.4(BARD1):c.800C>T (p.Thr267Ile)

SNV
Germline

Chr2:214781074

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA350455620

rs_1338972046

4 SubmittersRCV001027057 RCV001873425

NM_000465.4(BARD1):c.736C>A (p.Pro246Thr)

SNV
Germline

Chr2:214781138

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA64788672

rs_927730167

4 SubmittersRCV001026332 RCV001242797

NM_000465.4(BARD1):c.700G>T (p.Glu234Ter)

SNV
Germline

Chr2:214781174

Pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA350456348

rs_905491643

3 SubmittersRCV001025924 RCV003336270

NM_000465.4(BARD1):c.647A>G (p.Gln216Arg)

SNV
Germline

Chr2:214781227

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA350456605

rs_1178751431

2 SubmittersRCV001025312 RCV002298846

NM_000465.4(BARD1):c.514G>A (p.Asp172Asn)

SNV
Germline

Chr2:214781360

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA2090416

rs_759732945

3 SubmittersRCV001023617 RCV001091194 RCV001245327

NM_000465.4(BARD1):c.438G>A (p.Trp146Ter)

SNV
Germline

Chr2:214781436

Pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA350457783

rs_587781806

4 SubmittersRCV001022405 RCV001862215

NM_000465.4(BARD1):c.328A>T (p.Lys110Ter)

SNV
Germline

Chr2:214792333

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA350460865

rs_1574839460

2 SubmittersRCV001019704 RCV003461381

NM_000465.4(BARD1):c.245G>C (p.Gly82Ala)

SNV
Germline

Chr2:214792416

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA350461237

rs_886055600

3 SubmittersRCV001015610 RCV005093124

NM_000465.4(BARD1):c.51G>T (p.Gly17=)

SNV
Germline

Chr2:214809519

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA431148649

rs_864622419

3 SubmittersRCV001023714 RCV001036652

NM_000051.4(ATM):c.198A>T (p.Lys66Asn)

SNV
Germline

Chr11:108229190

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA382521231

rs_540920248

3 SubmittersRCV001013931 RCV001342603 RCV004569924

NM_000051.4(ATM):c.250G>T (p.Ala84Ser)

SNV
Germline

Chr11:108229242

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA382521560

rs_1382256509

5 SubmittersRCV001015772 RCV001832338 RCV003467626

NM_000051.4(ATM):c.395C>G (p.Ser132Cys)

SNV
Germline

Chr11:108235733

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA382524923

rs_750969764

4 SubmittersRCV001021523 RCV001207758 RCV003467662

NM_000051.4(ATM):c.411C>A (p.Tyr137Ter)

SNV
Germline

Chr11:108235749

Pathogenic

Hereditary cancer-predisposing syndrome
Carcinoma of colon
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382525051

rs_756160533

4 SubmittersRCV001021902 RCV001356735 RCV001390152 RCV004030813

NM_000051.4(ATM):c.468G>A (p.Trp156Ter)

SNV
Germline

Chr11:108235806

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA382525517

rs_1591475457

5 SubmittersRCV001022900 RCV001543537 RCV001862238 RCV004030830

NM_000051.4(ATM):c.487C>T (p.Gln163Ter)

SNV
Germline

Chr11:108235825

Pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382525693

rs_1591475608

5 SubmittersRCV001023192 RCV001042999 RCV003467674

NM_000051.4(ATM):c.516C>T (p.Phe172=)

SNV
Germline

Chr11:108243972

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA476671386

rs_1591499730

4 SubmittersRCV001023650 RCV002067664 RCV004589989

NM_000051.4(ATM):c.805C>T (p.His269Tyr)

SNV
Germline

Chr11:108244930

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
not specified
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA382529382

rs_1591504278

4 SubmittersRCV001027125 RCV001862398 RCV002509593 RCV004570080

NM_000051.4(ATM):c.1168G>T (p.Glu390Ter)

SNV
Germline

Chr11:108249035

Pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382532521

rs_876660106

3 SubmittersRCV001010091 RCV001860625 RCV003141930

NM_000051.4(ATM):c.1336C>T (p.Gln446Ter)

SNV
Germline

Chr11:108250801

Pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382533728

rs_587782121

4 SubmittersRCV001010831 RCV003605700 RCV004030304

NM_000051.4(ATM):c.1464G>A (p.Trp488Ter)

SNV
Germline

Chr11:108250929

Pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Ataxia-telangiectasia syndrome
Breast cancer, susceptibility to
Abnormal central motor function
Familial cancer of breast
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA382534151

rs_377597949

7 SubmittersRCV001011523 RCV001059130 RCV001258178 RCV001814257 RCV004030322 RCV004702577

NM_000051.4(ATM):c.2090T>G (p.Leu697Ter)

SNV
Germline

Chr11:108254005

Pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382537624

rs_1591534936

3 SubmittersRCV001014401 RCV001381934 RCV004030365

NM_000051.4(ATM):c.2465T>G (p.Leu822Ter)

SNV
Germline

Chr11:108259074

Pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382541423

rs_1442299125

3 SubmittersRCV001015624 RCV003500625 RCV004569944

NM_000051.4(ATM):c.2545G>T (p.Val849Leu)

SNV
Germline

Chr11:108267249

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA382543676

rs_1591587875

6 SubmittersRCV001015916 RCV001340736 RCV003467627 RCV004588476

NM_000051.4(ATM):c.3060A>G (p.Thr1020=)

SNV
Germline

Chr11:108271389

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA476674439

rs_1591604737

3 SubmittersRCV001018393 RCV001860907 RCV004588487

NM_000051.4(ATM):c.3063A>G (p.Val1021=)

SNV
Germline

Chr11:108271392

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA476674446

rs_1591604752

4 SubmittersRCV001018400 RCV001288008 RCV002068963 RCV004588488

NM_000051.4(ATM):c.4249A>T (p.Lys1417Ter)

SNV
Germline

Chr11:108289614

Pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382531037

rs_1591662598

2 SubmittersRCV001022128 RCV004030816

NM_000051.4(ATM):c.4524C>A (p.Tyr1508Ter)

SNV
Germline

Chr11:108292706

Pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382533669

rs_1555099892

3 SubmittersRCV001022637 RCV001862224 RCV004030825

NM_000051.4(ATM):c.4617G>A (p.Leu1539=)

SNV
Germline

Chr11:108293318

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA476674369

rs_1179885415

4 SubmittersRCV001022789 RCV005093224 RCV004589986

NM_000051.4(ATM):c.4990G>T (p.Glu1664Ter)

SNV
Germline

Chr11:108297367

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA382538516

rs_1555103301

5 SubmittersRCV001023376 RCV001208228 RCV002265926 RCV002269328 RCV005047213

NM_000051.4(ATM):c.6212T>A (p.Leu2071Ter)

SNV
Germline

Chr11:108317386

Pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast
ATM-related cancer predisposition
Inherited breast cancer and ovarian cancer

Reviewed By Expert Panel

CA382551078

rs_1591789046

4 SubmittersRCV001025016 RCV004030863 RCV005001130 RCV006443697

NM_000051.4(ATM):c.6300C>G (p.Tyr2100Ter)

SNV
Germline

Chr11:108317474

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast
Ataxia-telangiectasia syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA382552102

rs_1591789955

5 SubmittersRCV001025108 RCV001234892 RCV004796351

NM_000051.4(ATM):c.7092A>G (p.Ala2364=)

SNV
Germline

Chr11:108329023

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA476676658

rs_1591150359

4 SubmittersRCV001026027 RCV001449380 RCV004590018

NM_000051.4(ATM):c.7542T>A (p.Tyr2514Ter)

SNV
Germline

Chr11:108331470

Pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Ataxia-telangiectasia syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA382560688

rs_777925486

3 SubmittersRCV001026544 RCV004030885 RCV006465064

NM_000051.4(ATM):c.8010G>A (p.Lys2670=)

SNV
Germline

Chr11:108333968

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA228419797

rs_1013244700

5 SubmittersRCV001027065 RCV001068502 RCV001564202 RCV003467696

NM_000051.4(ATM):c.9168G>A (p.Val3056=)

SNV
Germline

Chr11:108365505

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA476745336

rs_1591388522

7 SubmittersRCV001018938 RCV002068967 RCV002298834 RCV004588493 RCV004998556

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.7732G>T (p.Gly2578Ter)

SNV
Germline

Chr13:32357856

Pathogenic/Likely pathogenic

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA387745555

rs_1593920920

3 SubmittersRCV003473606 RCV001026765

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.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.9325C>T (p.Leu3109Phe)

SNV
Germline

Chr13:32394757

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA387760985

rs_1593199703

2 SubmittersRCV001019172 RCV003461378

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_024675.4(PALB2):c.3469C>T (p.Gln1157Ter)

SNV
Germline

Chr16:23603551

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Malignant tumor of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA395138028

rs_1597062038

7 SubmittersRCV001020375 RCV001860983 RCV003226417

NM_024675.4(PALB2):c.3460G>A (p.Val1154Ile)

SNV
Germline

Chr16:23603560

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA395138067

rs_1597062059

3 SubmittersRCV001020361 RCV005093195

NM_024675.4(PALB2):c.3415A>G (p.Ile1139Val)

SNV
Germline

Chr16:23603605

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA395138220

rs_1249960937

6 SubmittersRCV001020240 RCV001356031 RCV001361922 RCV004702583 RCV004588497

NM_024675.4(PALB2):c.3395T>A (p.Leu1132Ter)

SNV
Germline

Chr16:23603625

Pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA395138260

rs_1597062296

3 SubmittersRCV001020185 RCV003455110

NM_024675.4(PALB2):c.2736G>A (p.Trp912Ter)

SNV
Germline

Chr16:23626248

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA395121841

rs_1555459925

5 SubmittersRCV001016442 RCV001234330 RCV005232052

NM_024675.4(PALB2):c.2389C>T (p.Gln797Ter)

SNV
Germline

Chr16:23629765

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA395124573

rs_1060502768

5 SubmittersRCV001015370 RCV002549416

NM_024675.4(PALB2):c.2239T>C (p.Ser747Pro)

SNV
Germline

Chr16:23629915

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA395125508

rs_1189203530

3 SubmittersRCV001014877 RCV001309047

NM_024675.4(PALB2):c.2123T>A (p.Leu708Ter)

SNV
Germline

Chr16:23630031

Pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA395125753

rs_1597090059

2 SubmittersRCV001014530 RCV003455085

NM_024675.4(PALB2):c.2078A>T (p.His693Leu)

SNV
Germline

Chr16:23630076

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided

Criteria Provided
Conflicting Classifications

CA395126578

rs_587780208

3 SubmittersRCV001014348 RCV001047310 RCV003478620

NM_024675.4(PALB2):c.1915G>T (p.Glu639Ter)

SNV
Germline

Chr16:23630239

Pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA395127528

rs_1555460592

2 SubmittersRCV001013686 RCV003455079

NM_024675.4(PALB2):c.1882A>T (p.Lys628Ter)

SNV
Germline

Chr16:23630272

Pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA395127646

rs_1597090894

2 SubmittersRCV001013510 RCV001380164

NM_024675.4(PALB2):c.1653T>G (p.Tyr551Ter)

SNV
Germline

Chr16:23634893

Pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA395130088

rs_118203997

4 SubmittersRCV001012602 RCV001284026 RCV001860714

NM_024675.4(PALB2):c.1643C>G (p.Ser548Ter)

SNV
Germline

Chr16:23634903

Pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA395130162

rs_1241049372

3 SubmittersRCV001012547 RCV001047370

NM_024675.4(PALB2):c.1622G>A (p.Arg541Lys)

SNV
Germline

Chr16:23634924

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA395130342

rs_1597095450

3 SubmittersRCV001012445 RCV001358872

NM_024675.4(PALB2):c.1586C>T (p.Pro529Leu)

SNV
Germline

Chr16:23634960

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA395130604

rs_1597095559

2 SubmittersRCV001012296 RCV001323085

NM_024675.4(PALB2):c.1163C>T (p.Pro388Leu)

SNV
Germline

Chr16:23635383

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA395133468

rs_1597096898

2 SubmittersRCV001010064 RCV001232223

NM_024675.4(PALB2):c.1117G>T (p.Glu373Ter)

SNV
Germline

Chr16:23635429

Pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA395133728

rs_1597097072

3 SubmittersRCV001017382 RCV001383301

NM_024675.4(PALB2):c.1073C>T (p.Pro358Leu)

SNV
Germline

Chr16:23635473

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA395133982

rs_1555461462

2 SubmittersRCV001017214 RCV006465013

NM_024675.4(PALB2):c.1010T>G (p.Leu337Ter)

SNV
Germline

Chr16:23635536

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA16622082

rs_45494092

5 SubmittersRCV001016993 RCV001057150 RCV004689957 RCV006261226

NM_024675.4(PALB2):c.809G>A (p.Ser270Asn)

SNV
Germline

Chr16:23635737

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA395135998

rs_1597098223

2 SubmittersRCV001027172 RCV001045831

NM_024675.4(PALB2):c.712A>T (p.Arg238Ter)

SNV
Germline

Chr16:23635834

Pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA395136336

rs_779278389

3 SubmittersRCV001026070 RCV001242112

NM_024675.4(PALB2):c.388C>T (p.His130Tyr)

SNV
Germline

Chr16:23636158

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Fanconi anemia complementation group N
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA395137451

rs_1555461809

5 SubmittersRCV001021365 RCV001030148 RCV001119842 RCV001861018

NM_024675.4(PALB2):c.343G>T (p.Gly115Ter)

SNV
Germline

Chr16:23636203

Pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA395137728

rs_1597099523

3 SubmittersRCV001020314 RCV001070132

NM_024675.4(PALB2):c.34G>C (p.Glu12Gln)

SNV
Germline

Chr16:23641124

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA7963887

rs_765520187

2 SubmittersRCV001020465 RCV002551827

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_032043.3(BRIP1):c.3739G>A (p.Gly1247Ser)

SNV
Germline

Chr17:61683307

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group J

Criteria Provided
Conflicting Classifications

CA400477712

rs_1196057129

2 SubmittersRCV001021008 RCV002549531

NM_032043.3(BRIP1):c.3315G>T (p.Leu1105Phe)

SNV
Germline

Chr17:61683731

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group J
Familial cancer of breast
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA400478996

rs_1603275236

3 SubmittersRCV001019926 RCV001873323 RCV004569986

NM_032043.3(BRIP1):c.3292G>T (p.Ala1098Ser)

SNV
Germline

Chr17:61683754

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA292267341

rs_1034545913

2 SubmittersRCV001019716 RCV001873320

NM_032043.3(BRIP1):c.3245C>G (p.Thr1082Ser)

SNV
Germline

Chr17:61683801

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA400479144

rs_1603275338

3 SubmittersRCV001019418 RCV002550846 RCV004569978

NM_032043.3(BRIP1):c.3197C>T (p.Ser1066Leu)

SNV
Germline

Chr17:61683849

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group J

Criteria Provided
Conflicting Classifications

CA400479356

rs_1567728809

2 SubmittersRCV001019117 RCV001063963

NM_032043.3(BRIP1):c.2906A>G (p.Asn969Ser)

SNV
Germline

Chr17:61684140

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA400480774

rs_1603275723

2 SubmittersRCV001016900 RCV002549443

NM_032043.3(BRIP1):c.2785C>T (p.Leu929=)

SNV
Germline

Chr17:61685956

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group J
Condition: not provided
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA501335704

rs_1603276698

5 SubmittersRCV001016603 RCV001488657 RCV002305558 RCV004789338

NM_032043.3(BRIP1):c.2172T>A (p.Ile724=)

SNV
Germline

Chr17:61744517

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group J
Familial cancer of breast
Condition: not provided

Criteria Provided
Conflicting Classifications

CA501151340

rs_777860588

4 SubmittersRCV001014671 RCV001416143 RCV004789333 RCV006250906

NM_032043.3(BRIP1):c.1917T>C (p.His639=)

SNV
Germline

Chr17:61780279

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA292281885

rs_763534423

4 SubmittersRCV001013693 RCV002549394 RCV004789330

NM_032043.3(BRIP1):c.1739C>G (p.Ser580Ter)

SNV
Germline

Chr17:61780895

Pathogenic

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group J
Familial cancer of breast
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA400480352

rs_1356014648

3 SubmittersRCV001012932 RCV001873241 RCV003336237

NM_032043.3(BRIP1):c.1093A>G (p.Ile365Val)

SNV
Germline

Chr17:61801300

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Fanconi anemia complementation group J
not specified

Criteria Provided
Conflicting Classifications

CA8690803

rs_749251680

6 SubmittersRCV001017258 RCV001194725 RCV001217022 RCV004596389

NM_032043.3(BRIP1):c.679C>T (p.Gln227Ter)

SNV
Germline

Chr17:61808706

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Fanconi anemia complementation group J
Familial cancer of breast
Fanconi anemia complementation group J
Gastric cancer
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA400485144

rs_45459799

6 SubmittersRCV001025658 RCV001194704 RCV001210339 RCV002271613 RCV003160184 RCV004030873

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_032043.3(BRIP1):c.275C>G (p.Ser92Ter)

SNV
Germline

Chr17:61857162

Pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA400485478

rs_1603366351

2 SubmittersRCV001016521 RCV003336245

NM_032043.3(BRIP1):c.189G>A (p.Trp63Ter)

SNV
Germline

Chr17:61859812

Pathogenic

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group J
Familial cancer of breast
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA400485679

rs_1603367647

4 SubmittersRCV001013553 RCV001380153 RCV004030355

NM_032043.3(BRIP1):c.188G>A (p.Trp63Ter)

SNV
Germline

Chr17:61859813

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA400485684

rs_1603367649

4 SubmittersRCV001013464 RCV001574232 RCV003336239 RCV003769458

NM_032043.3(BRIP1):c.66C>G (p.Tyr22Ter)

SNV
Germline

Chr17:61861474

Pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Familial cancer of breast
Fanconi anemia complementation group J

Criteria Provided
Multiple Submitters
No Conflicts

CA400485955

rs_1603368431

3 SubmittersRCV001025549 RCV003336267 RCV006556947

NM_000546.6(TP53):c.107C>T (p.Pro36Leu)

SNV
Germline

Chr17:7676262

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1
Li-Fraumeni syndrome 1
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA003257

rs_587781866

5 SubmittersRCV001009836 RCV001860613 RCV002290526 RCV005367666

NM_007194.4(CHEK2):c.1568G>T (p.Arg523Leu)

SNV
Germline

Chr22:28687961

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA322999593

rs_948928965

2 SubmittersRCV001012175 RCV002549360

NM_007194.4(CHEK2):c.1560G>A (p.Lys520=)

SNV
Germline

Chr22:28687969

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided

Criteria Provided
Conflicting Classifications

CA513944675

rs_1601698058

4 SubmittersRCV001012184 RCV002549362 RCV004761869

NM_007194.4(CHEK2):c.1479A>T (p.Arg493Ser)

SNV
Germline

Chr22:28689198

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA411092586

rs_1601702414

3 SubmittersRCV001011719 RCV001339942

NM_007194.4(CHEK2):c.1425T>C (p.Phe475=)

SNV
Germline

Chr22:28694068

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided

Criteria Provided
Conflicting Classifications

CA513944757

rs_1601716189

4 SubmittersRCV001011484 RCV003607369 RCV004998531

NM_007194.4(CHEK2):c.1233G>A (p.Trp411Ter)

SNV
Germline

Chr22:28695736

Pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA411096641

rs_1064796572

3 SubmittersRCV001010468 RCV001862769

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.1147A>G (p.Thr383Ala)

SNV
Germline

Chr22:28695822

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Malignant tumor of breast
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA10167718

rs_769439021

4 SubmittersRCV001017462 RCV001355097 RCV003336249

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.733A>T (p.Lys245Ter)

SNV
Germline

Chr22:28711968

Pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA411103291

rs_1601783375

3 SubmittersRCV001026288 RCV001055878

NM_007194.4(CHEK2):c.697G>T (p.Glu233Ter)

SNV
Germline

Chr22:28712004

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA411103471

rs_753972711

4 SubmittersRCV001025875 RCV003336269

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_007194.4(CHEK2):c.551A>G (p.Asn184Ser)

SNV
Germline

Chr22:28725018

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA411107175

rs_1444410452

2 SubmittersRCV001024212 RCV003607390

NM_007194.4(CHEK2):c.266C>T (p.Thr89Ile)

SNV
Germline

Chr22:28734456

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA411090474

rs_1601851716

2 SubmittersRCV001016263 RCV001294682

NM_000465.4(BARD1):c.1903+1G>A

SNV
Germline

Chr2:214745066

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA350452042

rs_876660237

6 SubmittersRCV001013627 RCV002511014 RCV003336240

NM_000465.4(BARD1):c.1569-1G>A

SNV
Germline

Chr2:214752556

Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA350455076

rs_1574756672

3 SubmittersRCV001012177 RCV002549361

NM_000465.4(BARD1):c.1315-2A>G

SNV
Germline

Chr2:214769314

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
not specified

Criteria Provided
Conflicting Classifications

CA350450601

rs_1316885634

3 SubmittersRCV001010923 RCV001860652 RCV005236526

NM_000465.4(BARD1):c.216-4A>T

SNV
Germline

Chr2:214792449

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA915941701

rs_1574840094

3 SubmittersRCV001014656 RCV001423032

NM_000465.4(BARD1):c.158+1G>C

SNV
Germline

Chr2:214809411

Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA350464687

rs_1553628351

2 SubmittersRCV001012252 RCV005621062

NM_000051.4(ATM):c.497-2661A>G

SNV
Germline

Chr11:108241292

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Ataxia-telangiectasia syndrome
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

CA915947714

rs_1591491477

4 SubmittersRCV001023349 RCV005056782 RCV005093231

NM_000051.4(ATM):c.663-5C>T

SNV
Germline

Chr11:108244783

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA915947721

rs_1591503207

3 SubmittersRCV001025481 RCV001827207 RCV004590013

NM_000051.4(ATM):c.902-1G>A

SNV
Germline

Chr11:108246963

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382530399

rs_1064793518

3 SubmittersRCV001018665 RCV002549482 RCV004030416

NM_000051.4(ATM):c.1065+4C>T

SNV
Germline

Chr11:108247131

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA915947729

rs_1591511595

4 SubmittersRCV001009804 RCV001035746 RCV002505540 RCV004997572

NM_000051.4(ATM):c.1236-5T>C

SNV
Germline

Chr11:108250696

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA915948340

rs_1591522569

2 SubmittersRCV001010482 RCV004588453

NM_000051.4(ATM):c.3154-1G>T

SNV
Germline

Chr11:108272721

Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382515469

rs_1555085973

3 SubmittersRCV001018841 RCV003455103

NM_000051.4(ATM):c.3577-2A>G

SNV
Germline

Chr11:108282708

Likely pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Malignant tumor of breast
Condition: not provided
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA228366628

rs_887358871

5 SubmittersRCV001020646 RCV001232578 RCV002469325 RCV002466603 RCV004030798

NM_000051.4(ATM):c.5918+1G>T

SNV
Germline

Chr11:108310316

Likely pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382548616

rs_1591746871

4 SubmittersRCV001024681 RCV001377099 RCV004030855

NM_000051.4(ATM):c.6348-1G>C

SNV
Germline

Chr11:108319953

Likely pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382553120

rs_1057517302

3 SubmittersRCV001025161 RCV001873390 RCV004030866

NM_000051.4(ATM):c.6573-1G>A

SNV
Germline

Chr11:108325309

Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382554638

rs_1591128291

2 SubmittersRCV001025421 RCV004030870

NM_000051.4(ATM):c.6573-1G>C

SNV
Germline

Chr11:108325309

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA382554639

rs_1591128291

5 SubmittersRCV001025422 RCV001066862 RCV004030871 RCV006261264

NM_000051.4(ATM):c.7515+1G>A

SNV
Germline

Chr11:108330422

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382560617

rs_1591161831

3 SubmittersRCV001026519 RCV001862370 RCV004030884

NM_000051.4(ATM):c.8787-1G>C

SNV
Germline

Chr11:108354810

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Ataxia-telangiectasia syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA382525495

rs_1591313869

4 SubmittersRCV001018317 RCV003461369 RCV005093165

NM_024675.4(PALB2):c.3351-1G>C

SNV
Germline

Chr16:23603670

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA395138433

rs_1597062406

3 SubmittersRCV001020063 RCV003455108

NM_024675.4(PALB2):c.3202-4T>C

SNV
Germline

Chr16:23608016

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA915949159

rs_1597067067

4 SubmittersRCV001019202 RCV001284320 RCV001411007

NM_024675.4(PALB2):c.3113+1G>A

SNV
Germline

Chr16:23621361

Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA395142752

rs_1597079557

3 SubmittersRCV001018702 RCV002550843

NM_024675.4(PALB2):c.2997-1G>A

SNV
Germline

Chr16:23621479

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA7963447

rs_754465466

4 SubmittersRCV001017865 RCV003455099

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_024675.4(PALB2):c.212-5C>T

SNV
Germline

Chr16:23636339

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA915949138

rs_1597099922

2 SubmittersRCV001014540 RCV005423766

NM_032043.3(BRIP1):c.2905+1G>T

SNV
Germline

Chr17:61685835

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group J

Criteria Provided
Multiple Submitters
No Conflicts

CA400481087

rs_876660203

3 SubmittersRCV001016897 RCV003336248 RCV003989624

NM_032043.3(BRIP1):c.1795-1G>A

SNV
Germline

Chr17:61780402

Likely pathogenic

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA400480237

rs_1368457771

2 SubmittersRCV001013114 RCV002551764

NM_032043.3(BRIP1):c.1794+1G>A

SNV
Germline

Chr17:61780839

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA8690671

rs_766516963

5 SubmittersRCV001013194 RCV001228430 RCV003336238

NM_032043.3(BRIP1):c.1474-2A>G

SNV
Germline

Chr17:61784426

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group J
Familial cancer of breast
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA400481799

rs_1603337052

3 SubmittersRCV001011737 RCV001235018 RCV003336232

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_032043.3(BRIP1):c.627+1G>T

SNV
Germline

Chr17:61847100

Likely pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA400482777

rs_587780833

3 SubmittersRCV001025065 RCV001575112 RCV005225208

NM_032043.3(BRIP1):c.508-1G>T

SNV
Germline

Chr17:61847221

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group J
Familial cancer of breast
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA400483481

rs_864622277

4 SubmittersRCV001023506 RCV002497344 RCV003336261

NM_007194.4(CHEK2):c.1543-2A>C

SNV
Germline

Chr22:28687988

Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA411091544

rs_1160973224

3 SubmittersRCV001012114 RCV001862785

NM_007194.4(CHEK2):c.1376-3T>C

SNV
Germline

Chr22:28694120

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA915952839

rs_1601716711

3 SubmittersRCV001011226 RCV005093069

NM_007194.4(CHEK2):c.1376-4T>G

SNV
Germline

Chr22:28694121

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA915952840

rs_1601716727

3 SubmittersRCV001011227 RCV001438351

NM_007194.4(CHEK2):c.1375+1G>C

SNV
Germline

Chr22:28695126

Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA411095316

rs_759706360

2 SubmittersRCV001011222 RCV001035082

NM_007194.4(CHEK2):c.908+3A>T

SNV
Germline

Chr22:28703502

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA915952857

rs_1601752050

3 SubmittersRCV001018804 RCV001059485

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_007194.4(CHEK2):c.847-2A>G

SNV
Germline

Chr22:28703568

Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Gastric cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA411101395

rs_1601753141

4 SubmittersRCV001017857 RCV001860880 RCV003160178

NM_007194.4(CHEK2):c.846+2T>C

SNV
Germline

Chr22:28710004

Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA411102251

rs_1601777275

2 SubmittersRCV001017844 RCV002549464

NM_007194.4(CHEK2):c.792+5G>C

SNV
Germline

Chr22:28711904

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA752182476

rs_876658514

3 SubmittersRCV001026958 RCV001862391

NM_007194.4(CHEK2):c.592+2T>C

SNV
Germline

Chr22:28724975

Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Colon adenocarcinoma
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA411106878

rs_1601822717

5 SubmittersRCV001024687 RCV003155963 RCV005912395 RCV002466607

NM_024675.4(PALB2):c.2345C>T (p.Pro782Leu)

SNV
Germline

Chr16:23629809

Conflicting classifications of pathogenicity

Condition: not provided
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA7963589

rs_772095244

3 SubmittersRCV001030298 RCV001041454 RCV006406811

NM_024675.4(PALB2):c.2242A>G (p.Thr748Ala)

SNV
Germline

Chr16:23629912

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA395125498

rs_1279823900

3 SubmittersRCV001030290 RCV002427473 RCV005093298

NM_024675.4(PALB2):c.2083A>T (p.Lys695Ter)

SNV
Germline

Chr16:23630071

Pathogenic

Condition: not provided
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA395125847

rs_1567218141

3 SubmittersRCV001030276 RCV003455145

NM_024675.4(PALB2):c.1972G>T (p.Glu658Ter)

SNV
Germline

Chr16:23630182

Pathogenic

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA395127308

rs_1555460542

4 SubmittersRCV001030273 RCV004030912

NM_024675.4(PALB2):c.1907A>G (p.Glu636Gly)

SNV
Germline

Chr16:23630247

Conflicting classifications of pathogenicity

Condition: not provided
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA395127557

rs_1966863975

3 SubmittersRCV001030267 RCV003607397 RCV004030911

NM_024675.4(PALB2):c.1837C>T (p.Gln613Ter)

SNV
Germline

Chr16:23630317

Pathogenic

Condition: not provided
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 5

Criteria Provided
Multiple Submitters
No Conflicts

CA395127879

rs_1966865214

6 SubmittersRCV001030263 RCV003455144 RCV003584801 RCV004577541

NM_024675.4(PALB2):c.1786G>T (p.Gly596Ter)

SNV
Germline

Chr16:23630368

Pathogenic

Familial cancer of breast
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA395128111

rs_1966866081

4 SubmittersRCV001030260 RCV004702588

NM_024675.4(PALB2):c.1411G>C (p.Gly471Arg)

SNV
Germline

Chr16:23635135

Conflicting classifications of pathogenicity

Condition: not provided
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA395131328

rs_1966970790

3 SubmittersRCV001030224 RCV003607396 RCV004659289

NM_024675.4(PALB2):c.812G>A (p.Ser271Asn)

SNV
Germline

Chr16:23635734

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA395135989

rs_1167051191

4 SubmittersRCV001030177 RCV002416312 RCV003607394

NM_024675.4(PALB2):c.746C>T (p.Pro249Leu)

SNV
Germline

Chr16:23635800

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA7963764

rs_759810283

4 SubmittersRCV001030171 RCV002391085

NM_024675.4(PALB2):c.538G>T (p.Glu180Ter)

SNV
Germline

Chr16:23636008

Pathogenic

Condition: not provided
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA395136914

rs_750782778

3 SubmittersRCV001030156 RCV003607393

NM_024675.4(PALB2):c.227T>C (p.Ile76Thr)

SNV
Germline

Chr16:23636319

Conflicting classifications of pathogenicity

Carcinoma of colon
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA395138956

rs_1967061407

3 SubmittersRCV001030135 RCV001862432 RCV004030909

NM_024529.5(CDC73):c.271C>T (p.Arg91Ter)

SNV
Germline

Chr1:193130207

Pathogenic

Parathyroid carcinoma
Hyperparathyroidism 1
Familial cancer of breast
Parathyroid carcinoma
Hyperparathyroidism 1
Hyperparathyroidism 2 with jaw tumors
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA343973341

rs_1558280170

5 SubmittersRCV001049577 RCV001198546 RCV001310104 RCV005012486 RCV005306243

NM_000465.4(BARD1):c.2267G>A (p.Trp756Ter)

SNV
Germline

Chr2:214728743

Pathogenic/Likely pathogenic

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA350449959

rs_1358155595

4 SubmittersRCV001070842 RCV001179860

NM_000465.4(BARD1):c.2224T>G (p.Leu742Val)

SNV
Germline

Chr2:214728786

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA350450112

rs_876659765

2 SubmittersRCV001035010 RCV005772067

NM_000465.4(BARD1):c.2218G>T (p.Glu740Ter)

SNV
Germline

Chr2:214728792

Likely pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA350450150

rs_1692204026

1 SubmittersRCV001051112

NM_000465.4(BARD1):c.2020G>T (p.Gly674Ter)

SNV
Germline

Chr2:214728990

Pathogenic/Likely pathogenic

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA350450791

rs_1328046615

6 SubmittersRCV001056443 RCV002416413 RCV004809010

NM_000465.4(BARD1):c.1149G>A (p.Met383Ile)

SNV
Germline

Chr2:214780725

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA350453963

rs_1559423780

2 SubmittersRCV001051228 RCV004950174

NM_000465.4(BARD1):c.1003A>T (p.Arg335Ter)

SNV
Germline

Chr2:214780871

Pathogenic

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA350454418

rs_1694972567

2 SubmittersRCV001067489 RCV004601353

NM_000465.4(BARD1):c.971A>G (p.His324Arg)

SNV
Germline

Chr2:214780903

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA350454641

rs_1445844416

2 SubmittersRCV001041142 RCV003353118

NM_000465.4(BARD1):c.876G>C (p.Lys292Asn)

SNV
Germline

Chr2:214780998

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA350455173

rs_1449269582

2 SubmittersRCV001069913 RCV004609614

NM_000465.4(BARD1):c.673G>T (p.Glu225Ter)

SNV
Germline

Chr2:214781201

Pathogenic

Familial cancer of breast
Malignant tumor of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA350456479

rs_1064793049

3 SubmittersRCV001052253 RCV001535654

NM_000465.4(BARD1):c.522T>G (p.Ser174Arg)

SNV
Germline

Chr2:214781352

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA350457470

rs_1060504190

2 SubmittersRCV001049037 RCV002348389

NM_000465.4(BARD1):c.493A>G (p.Thr165Ala)

SNV
Germline

Chr2:214781381

Conflicting classifications of pathogenicity

Familial cancer of breast
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA350457530

rs_876658147

3 SubmittersRCV001047846 RCV002284458 RCV004601341

NM_000465.4(BARD1):c.490C>T (p.Gln164Ter)

SNV
Germline

Chr2:214781384

Pathogenic

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA350457536

rs_750350372

3 SubmittersRCV001060643 RCV005520406

NM_000465.4(BARD1):c.244G>T (p.Gly82Ter)

SNV
Germline

Chr2:214792417

Pathogenic

Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA350461241

rs_1559437226

2 SubmittersRCV001066886

NM_000465.4(BARD1):c.20C>G (p.Pro7Arg)

SNV
Germline

Chr2:214809550

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA350465436

rs_1696475875

3 SubmittersRCV001037388 RCV001184674

NM_001382391.1(CSPP1):c.3109G>A (p.Val1037Ile)

SNV
Germline

Chr8:67175436

Conflicting classifications of pathogenicity

Joubert syndrome 21
Inborn genetic diseases
Condition: not provided
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA4771023

rs_200546493

5 SubmittersRCV001034776 RCV002552064 RCV003432994 RCV005912422

NM_000051.4(ATM):c.2667T>A (p.Tyr889Ter)

SNV
Germline

Chr11:108268438

Pathogenic/Likely pathogenic

Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382545088

rs_2081381578

3 SubmittersRCV001054612 RCV003462563

NM_000051.4(ATM):c.3764T>A (p.Leu1255Ter)

SNV
Germline

Chr11:108284244

Pathogenic/Likely pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382524340

rs_2082374257

4 SubmittersRCV001066992 RCV002348466 RCV003469256

NM_000051.4(ATM):c.4150C>T (p.His1384Tyr)

SNV
Germline

Chr11:108289017

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA382529988

rs_876660576

5 SubmittersRCV001046686 RCV002327294 RCV003467747 RCV004773256

NM_000051.4(ATM):c.4397G>C (p.Arg1466Pro)

SNV
Germline

Chr11:108289762

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA382532201

rs_749770110

3 SubmittersRCV001044920 RCV002327288 RCV003467736

NM_000051.4(ATM):c.4591C>T (p.Gln1531Ter)

SNV
Germline

Chr11:108292773

Pathogenic/Likely pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Malignant tumor of breast
Familial cancer of breast
Familial cancer of breast
Ataxia-telangiectasia syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA382533998

rs_2082872908

7 SubmittersRCV001040433 RCV001805986 RCV003226422 RCV003461453 RCV005047223

NM_000051.4(ATM):c.4668T>G (p.Tyr1556Ter)

SNV
Germline

Chr11:108293369

Pathogenic

Ataxia-telangiectasia syndrome
Familial cancer of breast
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA6265527

rs_766438805

3 SubmittersRCV001050385 RCV003155965 RCV004697033

NM_000051.4(ATM):c.5114A>G (p.Asp1705Gly)

SNV
Germline

Chr11:108299822

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA382540813

rs_2083331705

3 SubmittersRCV001057705 RCV002339288 RCV004570228

NM_000051.4(ATM):c.6387C>G (p.Tyr2129Ter)

SNV
Germline

Chr11:108319993

Pathogenic

Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382553319

rs_2085081161

2 SubmittersRCV001066538 RCV004030617

NM_000051.4(ATM):c.7395A>G (p.Lys2465=)

SNV
Germline

Chr11:108330301

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA476676897

rs_2086122414

3 SubmittersRCV001043876 RCV002379517 RCV004590046

NM_000051.4(ATM):c.7397C>A (p.Ala2466Glu)

SNV
Germline

Chr11:108330303

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA382560090

rs_1324075885

6 SubmittersRCV001059517 RCV003160479 RCV003467801

NM_000051.4(ATM):c.8252C>G (p.Thr2751Ser)

SNV
Germline

Chr11:108335945

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA382562672

rs_2086800136

4 SubmittersRCV001058550 RCV001760010 RCV002429677 RCV003467793

NM_000051.4(ATM):c.8965C>T (p.Gln2989Ter)

SNV
Germline

Chr11:108365196

Pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382530325

rs_147695170

3 SubmittersRCV001049656 RCV001184926 RCV003141977

NM_000051.4(ATM):c.9112C>T (p.Gln3038Ter)

SNV
Germline/somatic

Chr11:108365449

Pathogenic/Likely pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Malignant tumor of urinary bladder
Gastric cancer
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382531991

rs_1591387978

6 SubmittersRCV001050551 RCV003160394 RCV003332289 RCV003160395 RCV004031569

NM_000051.4(ATM):c.9169T>C (p.Ter3057Arg)

SNV
Germline

Chr11:108365506

Likely pathogenic

Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382532212

rs_2091262473

3 SubmittersRCV001040394 RCV004031138

NM_000051.4(ATM):c.9169T>G (p.Ter3057Gly)

SNV
Germline

Chr11:108365506

Likely pathogenic

Ataxia-telangiectasia syndrome
Carcinoma of colon
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Hereditary cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA382532214

rs_2091262473

7 SubmittersRCV001037761 RCV001354458 RCV004031040 RCV003467713 RCV004698854

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.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.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_024675.4(PALB2):c.3028G>T (p.Glu1010Ter)

SNV
Germline

Chr16:23621447

Pathogenic

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA395143098

rs_1966771907

3 SubmittersRCV001064157 RCV002436654

NM_024675.4(PALB2):c.2485C>T (p.Gln829Ter)

SNV
Germline

Chr16:23629669

Pathogenic

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA395124018

rs_1966855759

3 SubmittersRCV001048640 RCV003283899

NM_024675.4(PALB2):c.1988G>A (p.Arg663His)

SNV
Germline

Chr16:23630166

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
not specified

Criteria Provided
Conflicting Classifications

CA395127231

rs_1462734899

3 SubmittersRCV001061994 RCV002418525 RCV003323791

NM_024675.4(PALB2):c.1568C>G (p.Ala523Gly)

SNV
Germline

Chr16:23634978

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA395130717

rs_1966956742

2 SubmittersRCV001071418 RCV004030790

NM_024675.4(PALB2):c.1553C>A (p.Ser518Ter)

SNV
Germline

Chr16:23634993

Pathogenic

Familial cancer of breast
Hereditary cancer-predisposing syndrome
PALB2-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA395130804

rs_1060502805

4 SubmittersRCV001044695 RCV002400256 RCV004740549

NM_024675.4(PALB2):c.1480A>G (p.Thr494Ala)

SNV
Germline

Chr16:23635066

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Hereditary cancer

Criteria Provided
Conflicting Classifications

CA395131134

rs_1555461258

4 SubmittersRCV001051470 RCV002393258 RCV004702605

NM_024675.4(PALB2):c.1315G>A (p.Gly439Arg)

SNV
Germline

Chr16:23635231

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA7963720

rs_764750338

2 SubmittersRCV001057203 RCV004944821

NM_024675.4(PALB2):c.1002C>A (p.Tyr334Ter)

SNV
Germline

Chr16:23635544

Pathogenic

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA395134596

rs_1967002667

3 SubmittersRCV001055176 RCV003283917

NM_024675.4(PALB2):c.647T>C (p.Ile216Thr)

SNV
Germline

Chr16:23635899

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA395136523

rs_1967031858

2 SubmittersRCV001039734 RCV004944785

NM_024675.4(PALB2):c.568T>A (p.Ser190Thr)

SNV
Germline

Chr16:23635978

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA395136806

rs_1967037502

2 SubmittersRCV001041617 RCV002348354

NM_024675.4(PALB2):c.485G>C (p.Cys162Ser)

SNV
Germline

Chr16:23636061

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA395137099

rs_1555461779

3 SubmittersRCV001050370 RCV001191985

NM_024675.4(PALB2):c.483C>G (p.Asp161Glu)

SNV
Germline

Chr16:23636063

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA279499946

rs_371627753

3 SubmittersRCV001054073 RCV002339272 RCV002479328

NM_024675.4(PALB2):c.398G>C (p.Ser133Thr)

SNV
Germline

Chr16:23636148

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Chordoma

Criteria Provided
Conflicting Classifications

CA395137415

rs_864622411

4 SubmittersRCV001038666 RCV001178878 RCV002267068

NM_024675.4(PALB2):c.380A>T (p.His127Leu)

SNV
Germline

Chr16:23636166

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA395137485

rs_863224789

2 SubmittersRCV001035601 RCV005692275

NM_024675.4(PALB2):c.298C>G (p.Leu100Val)

SNV
Germline

Chr16:23636248

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA395138807

rs_61756147

2 SubmittersRCV001054341 RCV006406828

NM_024675.4(PALB2):c.290C>T (p.Ser97Phe)

SNV
Germline

Chr16:23636256

Conflicting classifications of pathogenicity

Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA395138819

rs_776902295

2 SubmittersRCV001048724

NM_004360.5(CDH1):c.1914G>A (p.Trp638Ter)

SNV
Germline

Chr16:68822203

Pathogenic/Likely pathogenic

Hereditary diffuse gastric adenocarcinoma
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA396467239

rs_1961170989

4 SubmittersRCV001050581 RCV003473642 RCV005428066

NM_032043.3(BRIP1):c.3478A>G (p.Asn1160Asp)

SNV
Germline

Chr17:61683568

Conflicting classifications of pathogenicity

Familial cancer of breast
Fanconi anemia complementation group J
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA400478617

rs_2061305104

3 SubmittersRCV001046667 RCV005318584

NM_032043.3(BRIP1):c.3167C>G (p.Ser1056Ter)

SNV
Germline

Chr17:61683879

Conflicting classifications of pathogenicity

Familial cancer of breast
Fanconi anemia complementation group J
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA400479463

rs_1603275438

3 SubmittersRCV001069273 RCV003142024 RCV006372053

NM_032043.3(BRIP1):c.3154A>G (p.Lys1052Glu)

SNV
Germline

Chr17:61683892

Conflicting classifications of pathogenicity

Familial cancer of breast
Fanconi anemia complementation group J
Hereditary cancer-predisposing syndrome
not specified

Criteria Provided
Conflicting Classifications

CA400479524

rs_1285783476

3 SubmittersRCV001066891 RCV002320335 RCV005232104

NM_032043.3(BRIP1):c.3089C>T (p.Ala1030Val)

SNV
Germline

Chr17:61683957

Conflicting classifications of pathogenicity

Fanconi anemia complementation group J
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA8690397

rs_767255426

2 SubmittersRCV001068006 RCV002320343

NM_032043.3(BRIP1):c.2414C>A (p.Ser805Ter)

SNV
Germline

Chr17:61716029

Pathogenic/Likely pathogenic

Familial cancer of breast
Fanconi anemia complementation group J
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA400479714

rs_2061855838

4 SubmittersRCV001040141 RCV002445225 RCV003336282

NM_032043.3(BRIP1):c.1694C>A (p.Ser565Ter)

SNV
Germline

Chr17:61780940

Pathogenic/Likely pathogenic

Familial cancer of breast
Fanconi anemia complementation group J
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA400480449

rs_1603334619

2 SubmittersRCV001045191 RCV006554604

NM_032043.3(BRIP1):c.772C>T (p.Gln258Ter)

SNV
Germline

Chr17:61808613

Pathogenic

Familial cancer of breast
Fanconi anemia complementation group J
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA400484940

rs_1555609257

3 SubmittersRCV001044683 RCV003307838 RCV003336286

NM_032043.3(BRIP1):c.73C>T (p.Gln25Ter)

SNV
Germline

Chr17:61861467

Pathogenic/Likely pathogenic

Familial cancer of breast
Fanconi anemia complementation group J
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA400485940

rs_2078971612

3 SubmittersRCV001036465 RCV004030985 RCV003336278

NM_000546.6(TP53):c.559G>A (p.Gly187Ser)

SNV
Germline/somatic

Chr17:7675053

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
not specified
Familial cancer of breast
Diffuse midline glioma, H3 K27M-mutant

Criteria Provided
Conflicting Classifications

CA002385

rs_776167460

6 SubmittersRCV001042375 RCV002348357 RCV005232078 RCV005912457 RCV006254189

NM_007194.4(CHEK2):c.1230C>A (p.Cys410Ter)

SNV
Germline

Chr22:28695739

Pathogenic

Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA411096651

rs_773380144

2 SubmittersRCV001051488

NM_007194.4(CHEK2):c.763A>T (p.Lys255Ter)

SNV
Germline

Chr22:28711938

Pathogenic

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA411103149

rs_2053408810

2 SubmittersRCV001056400 RCV005540253

NM_007194.4(CHEK2):c.468C>G (p.Tyr156Ter)

SNV
Germline

Chr22:28725101

Pathogenic/Likely pathogenic

Familial cancer of breast
Breast cancer, susceptibility to
Prostate cancer susceptibility
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA411107667

rs_1555926996

3 SubmittersRCV001054096 RCV001258053 RCV004031699

NM_007194.4(CHEK2):c.319G>A (p.Glu107Lys)

SNV
Germline

Chr22:28734403

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
not specified

Criteria Provided
Conflicting Classifications

CA10168046

rs_775320614

4 SubmittersRCV001062326 RCV002320320 RCV004596404

NM_007194.4(CHEK2):c.310G>T (p.Ala104Ser)

SNV
Germline

Chr22:28734412

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA411090203

rs_1601851066

2 SubmittersRCV001044600 RCV002320258

NM_007194.4(CHEK2):c.291G>A (p.Trp97Ter)

SNV
Germline

Chr22:28734431

Pathogenic

Familial cancer of breast
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA411090320

rs_2054312626

3 SubmittersRCV001037472 RCV001090274 RCV002434437

NM_001099922.3(ALG13):c.621A>T (p.Gly207=)

SNV
Germline

ChrX:111708264

Conflicting classifications of pathogenicity

Developmental and epileptic encephalopathy, 36
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA10493558

rs_371428241

3 SubmittersRCV001056603 RCV005913523

NM_000465.4(BARD1):c.1904-10T>G

SNV
Germline

Chr2:214730518

Conflicting classifications of pathogenicity

Familial cancer of breast
Malignant tumor of breast
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2090119

rs_768259863

3 SubmittersRCV001045099 RCV001356086 RCV003238282

NM_000465.4(BARD1):c.1569-2A>G

SNV
Germline

Chr2:214752557

Likely pathogenic

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA350455079

rs_1693509336

3 SubmittersRCV001048460 RCV002400273

NM_000465.4(BARD1):c.216-6T>A

SNV
Germline

Chr2:214792451

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA916082288

rs_1695570324

2 SubmittersRCV001059733 RCV001525519

NM_000465.4(BARD1):c.158+6G>T

SNV
Germline

Chr2:214809406

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA916082287

rs_1696451585

4 SubmittersRCV001052567 RCV001805999

NM_000051.4(ATM):c.3078-5T>C

SNV
Germline

Chr11:108272527

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA916079946

rs_1565427457

3 SubmittersRCV001043104 RCV004590044 RCV002319651

NM_000051.4(ATM):c.3402+1G>A

SNV
Germline

Chr11:108279609

Pathogenic/Likely pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382517888

rs_1565439606

3 SubmittersRCV001052757 RCV002451217 RCV005359818

NM_000051.4(ATM):c.4909+5T>C

SNV
Germline

Chr11:108295064

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA916080484

rs_2083048367

3 SubmittersRCV001059283 RCV003462580 RCV005278727

NM_000051.4(ATM):c.5005+1G>A

SNV
Germline

Chr11:108297383

Likely pathogenic

Ataxia-telangiectasia syndrome
Familial cancer of breast
Ataxia-telangiectasia syndrome
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA382538604

rs_1057517427

5 SubmittersRCV001065044 RCV005049756 RCV003467827 RCV005503006

NM_032043.3(BRIP1):c.379+1G>T

SNV
Germline

Chr17:61857057

Likely pathogenic

Familial cancer of breast
Fanconi anemia complementation group J
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial ovarian cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA400485257

rs_1437158047

4 SubmittersRCV001066581 RCV002355086 RCV004720752 RCV005601678

NM_000051.4(ATM):c.1899-5T>C

SNV
Germline

Chr11:108253809

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA916080451

rs_1591533679

2 SubmittersRCV001044996 RCV004590048

NM_000051.4(ATM):c.3746+1G>T

SNV
Germline

Chr11:108282880

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA382523924

rs_2082309297

5 SubmittersRCV001042076 RCV003160284 RCV003283884 RCV003322843 RCV004031272

NM_000051.4(ATM):c.4110-1G>C

SNV
Germline

Chr11:108288976

Pathogenic/Likely pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast
ATM-related disorder
Familial colorectal cancer type X

Criteria Provided
Multiple Submitters
No Conflicts

CA382529698

rs_1060501692

7 SubmittersRCV001035121 RCV002320228 RCV003467700 RCV004698853 RCV005359794

NM_000051.4(ATM):c.1607+1G>A

SNV
Germline

Chr11:108251073

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA382534457

rs_772926890

5 SubmittersRCV001046283 RCV001182864 RCV001539880 RCV003467746

NM_000051.4(ATM):c.2124+1G>A

SNV
Germline

Chr11:108254040

Pathogenic/Likely pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382537813

rs_1555073553

4 SubmittersRCV001042407 RCV002416352 RCV004031286

NM_000051.4(ATM):c.4109+5G>A

SNV
Germline

Chr11:108287720

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA476673629

rs_2082568277

4 SubmittersRCV001040379 RCV002320248 RCV003223691 RCV005049738

NM_000051.4(ATM):c.5320-3T>C

SNV
Germline

Chr11:108302850

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA602132837

rs_1346691984

3 SubmittersRCV001066680 RCV002348464 RCV004590080

NM_024675.4(PALB2):c.211+2T>C

SNV
Germline

Chr16:23637848

Likely pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA395139002

rs_1967098495

1 SubmittersRCV001036628

NM_032043.3(BRIP1):c.2575+1G>T

SNV
Germline

Chr17:61693429

Likely pathogenic

Familial cancer of breast
Fanconi anemia complementation group J
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA400482300

rs_1567737536

3 SubmittersRCV001067981 RCV002429727 RCV003336304

NM_032043.3(BRIP1):c.1628+1G>C

SNV
Germline

Chr17:61784269

Likely pathogenic

Familial cancer of breast
Fanconi anemia complementation group J
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA400480843

rs_1438975574

5 SubmittersRCV001061987 RCV001179693 RCV003336300

NM_032043.3(BRIP1):c.508-2A>G

SNV
Germline

Chr17:61847222

Pathogenic/Likely pathogenic

Familial cancer of breast
Fanconi anemia complementation group J
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA400483488

rs_876659707

4 SubmittersRCV001043236 RCV002339217

NM_024675.4(PALB2):c.2514+1G>A

SNV
Germline

Chr16:23629639

Likely pathogenic

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA395123914

rs_886039729

4 SubmittersRCV001069194 RCV001187628

NM_032043.3(BRIP1):c.2097+2T>A

SNV
Germline

Chr17:61776399

Conflicting classifications of pathogenicity

Familial cancer of breast
Fanconi anemia complementation group J
Familial cancer of breast
Ovarian cancer
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA400477943

rs_2077532634

4 SubmittersRCV001038016 RCV002249640 RCV003155964 RCV003307812

NM_007194.4(CHEK2):c.1543-1G>A

SNV
Germline

Chr22:28687987

Likely pathogenic

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA411091535

rs_2052190289

3 SubmittersRCV001037160 RCV005801975

NM_007194.4(CHEK2):c.1008+1G>C

SNV
Germline

Chr22:28699837

Likely pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA411099235

rs_1555915298

1 SubmittersRCV001037898

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.80+2T>C

SNV
Germline

Chr17:43124015

Pathogenic

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
Single Submitter

CA10601994

rs_80358128

2 SubmittersRCV001077724 RCV005394731

NM_000051.4(ATM):c.3046G>T (p.Gly1016Ter)

SNV
Germline

Chr11:108271375

Pathogenic

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA382547590

rs_2081575204

2 SubmittersRCV001090191 RCV003584834

NM_000051.4(ATM):c.7879T>C (p.Tyr2627His)

SNV
Germline

Chr11:108332852

Conflicting classifications of pathogenicity

Familial cancer of breast
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

CA382561430

rs_2086422796

2 SubmittersRCV001090200 RCV001862671

NM_024675.4(PALB2):c.48+1G>T

SNV
Germline

Chr16:23641109

Pathogenic/Likely pathogenic

Condition: not provided
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA395140996

rs_515726118

3 SubmittersRCV001091643 RCV001377904

NM_018122.5(DARS2):c.228-10C>G

SNV
Germline

Chr1:173828323

Conflicting classifications of pathogenicity

Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
Condition: not provided
Uterine corpus endometrial carcinoma
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA1250075

rs_201817953

4 SubmittersRCV001099406 RCV001732042 RCV005913673 RCV005913672

NM_000051.4(ATM):c.834C>G (p.Val278=)

SNV
Germline

Chr11:108244959

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA476744804

rs_2079769316

3 SubmittersRCV001105467 RCV004590095 RCV002436706

NM_000260.4(MYO7A):c.3109-15C>T

SNV
Germline

Chr11:77182409

Conflicting classifications of pathogenicity

Usher syndrome type 1
Autosomal dominant nonsyndromic hearing loss 11
Autosomal recessive nonsyndromic hearing loss 2
Condition: not provided
Uterine corpus endometrial carcinoma
Familial cancer of breast
Cervical cancer

Criteria Provided
Conflicting Classifications

CA381944438

rs_369729874

3 SubmittersRCV001110925 RCV001110926 RCV001110924 RCV003558673 RCV005913722 RCV005913720 RCV005913721

NM_024675.4(PALB2):c.3402T>A (p.Ser1134=)

SNV
Germline

Chr16:23603618

Conflicting classifications of pathogenicity

Fanconi anemia complementation group N
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA494173722

rs_1966403904

4 SubmittersRCV001121622 RCV001201577 RCV001526131

NM_000213.5(ITGB4):c.3112-3C>T

SNV
Germline

Chr17:75748838

Conflicting classifications of pathogenicity

Junctional epidermolysis bullosa with pyloric atresia
Condition: not provided
not specified
Epidermolysis bullosa, junctional 5A, intermediate
Junctional epidermolysis bullosa with pyloric atresia
Gastric cancer
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA8769716

rs_151033645

9 SubmittersRCV001122524 RCV001856614 RCV002249733 RCV002491381 RCV005913781 RCV005913780

NM_001349206.2(LPIN1):c.879C>G (p.Val293=)

SNV
Germline

Chr2:11779567

Conflicting classifications of pathogenicity

Myoglobinuria, acute recurrent, autosomal recessive
Condition: not provided
LPIN1-related disorder
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA1533533

rs_150089043

4 SubmittersRCV001130857 RCV003565464 RCV003906245 RCV005913823

NM_000465.4(BARD1):c.903G>A (p.Glu301=)

SNV
Germline

Chr2:214780971

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA431391694

rs_1694982551

3 SubmittersRCV001143337 RCV006372144

NM_000465.4(BARD1):c.123C>A (p.Leu41=)

SNV
Germline

Chr2:214809447

Conflicting classifications of pathogenicity

Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA2090513

rs_764410072

3 SubmittersRCV001139003

NM_000901.5(NR3C2):c.1757+6T>C

SNV
Germline

Chr4:148435098

Conflicting classifications of pathogenicity

Autosomal dominant pseudohypoaldosteronism type 1
not specified
Condition: not provided
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA3100247

rs_184268528

4 SubmittersRCV001149082 RCV004587051 RCV005093643 RCV005913901

NM_000465.4(BARD1):c.1678-3C>G

SNV
Germline

Chr2:214745857

Pathogenic/Likely pathogenic

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Malignant tumor of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA1139657675

rs_1693089932

3 SubmittersRCV001873646 RCV002402523 RCV005236655

NM_000465.4(BARD1):c.1461G>T (p.Val487=)

SNV
Germline

Chr2:214767589

Conflicting classifications of pathogenicity

not specified
Familial cancer of breast
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA431129563

rs_1694272372

5 SubmittersRCV001175019 RCV001476588 RCV003478702 RCV003363136

NM_000465.4(BARD1):c.1172C>A (p.Ser391Ter)

SNV
Germline

Chr2:214780702

Pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA350453870

rs_878853995

4 SubmittersRCV001187014 RCV001862946

NM_000465.4(BARD1):c.1109G>T (p.Arg370Leu)

SNV
Germline

Chr2:214780765

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA350454039

rs_730881416

3 SubmittersRCV001186784 RCV002560892

NM_000465.4(BARD1):c.1040T>C (p.Phe347Ser)

SNV
Germline

Chr2:214780834

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA350454210

rs_1559424172

3 SubmittersRCV001185149 RCV001298695

NM_000465.4(BARD1):c.1025G>A (p.Ser342Asn)

SNV
Germline

Chr2:214780849

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA2090346

rs_760950550

5 SubmittersRCV001188171 RCV002560921 RCV006258423 RCV006269318

NM_000465.4(BARD1):c.919T>C (p.Tyr307His)

SNV
Germline

Chr2:214780955

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided

Criteria Provided
Conflicting Classifications

CA350455072

rs_1694981227

4 SubmittersRCV001176669 RCV001875819 RCV004777981

NM_000465.4(BARD1):c.860A>T (p.Glu287Val)

SNV
Germline

Chr2:214781014

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA350455206

rs_1197692311

3 SubmittersRCV001181265 RCV001344918

NM_000465.4(BARD1):c.503C>A (p.Ala168Glu)

SNV
Germline

Chr2:214781371

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA350457512

rs_982408430

3 SubmittersRCV001190087 RCV001220467

NM_000051.4(ATM):c.352C>T (p.Gln118Ter)

SNV
Germline

Chr11:108235690

Pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382524612

rs_2079235532

4 SubmittersRCV001188236 RCV001234774 RCV004033380

NM_000051.4(ATM):c.578C>T (p.Ala193Val)

SNV
Germline

Chr11:108244034

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA382527908

rs_1064793928

3 SubmittersRCV001183850 RCV003469302

NM_000051.4(ATM):c.8620C>T (p.Gln2874Ter)

SNV
Germline

Chr11:108347314

Pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382520729

rs_2088551822

5 SubmittersRCV001190881 RCV001389297 RCV005055395

NM_000051.4(ATM):c.9091C>T (p.Gln3031Ter)

SNV
Germline

Chr11:108365428

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Ataxia-telangiectasia syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA382531874

rs_2091249987

5 SubmittersRCV001179145 RCV001192363 RCV001247349

NM_000059.4(BRCA2):c.2035A>C (p.Asn679His)

SNV
Germline

Chr13:32336390

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA387768899

rs_786202617

3 SubmittersRCV001181709 RCV005359904

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_024675.4(PALB2):c.*10A>T

SNV
Germline

Chr16:23603449

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA913188696

rs_1966394024

2 SubmittersRCV001180161 RCV005428093

NM_024675.4(PALB2):c.2872C>T (p.Gln958Ter)

SNV
Germline

Chr16:23623093

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA395144382

rs_1567213829

2 SubmittersRCV001179792 RCV001386173

NM_024675.4(PALB2):c.2535T>C (p.Pro845=)

SNV
Germline

Chr16:23629255

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA494163498

rs_1567216906

6 SubmittersRCV001181274 RCV002559781 RCV003478712 RCV004596416

NM_024675.4(PALB2):c.2360C>G (p.Thr787Ser)

SNV
Germline

Chr16:23629794

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA279492250

rs_201042302

3 SubmittersRCV001180223 RCV001218280

NM_024675.4(PALB2):c.2278C>A (p.Leu760Ile)

SNV
Germline

Chr16:23629876

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA7963601

rs_769634658

3 SubmittersRCV001180225 RCV001244487

NM_024675.4(PALB2):c.1253A>G (p.Asn418Ser)

SNV
Germline

Chr16:23635293

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA395132874

rs_1784498384

3 SubmittersRCV001184627 RCV001300771

NM_024675.4(PALB2):c.1181A>T (p.His394Leu)

SNV
Germline

Chr16:23635365

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA7963729

rs_762430363

4 SubmittersRCV001184922 RCV001359927

NM_024675.4(PALB2):c.503C>G (p.Ser168Ter)

SNV
Germline

Chr16:23636043

Pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA395137032

rs_515726122

4 SubmittersRCV001187410 RCV003449610

NM_024675.4(PALB2):c.236A>G (p.Tyr79Cys)

SNV
Germline

Chr16:23636310

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA395138939

rs_766710382

3 SubmittersRCV001191364 RCV006465694

NM_024675.4(PALB2):c.37G>T (p.Glu13Ter)

SNV
Germline

Chr16:23641121

Pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA395141056

rs_373287455

2 SubmittersRCV001178653 RCV002555489

NM_032043.3(BRIP1):c.3572T>C (p.Ile1191Thr)

SNV
Germline

Chr17:61683474

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Fanconi anemia complementation group J

Criteria Provided
Conflicting Classifications

CA400478209

rs_2061301543

4 SubmittersRCV001190224 RCV001194756 RCV001363903

NM_032043.3(BRIP1):c.3196T>A (p.Ser1066Thr)

SNV
Germline

Chr17:61683850

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group J

Criteria Provided
Conflicting Classifications

CA400479360

rs_1199327421

4 SubmittersRCV001187262 RCV001219207

NM_032043.3(BRIP1):c.2552A>G (p.Asn851Ser)

SNV
Germline

Chr17:61693453

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group J

Criteria Provided
Conflicting Classifications

CA400482385

rs_2061477443

3 SubmittersRCV001179659 RCV003769946

NM_032043.3(BRIP1):c.2458C>T (p.Gln820Ter)

SNV
Germline

Chr17:61715985

Pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA400479523

rs_2061854079

3 SubmittersRCV001176377 RCV003336312

NM_032043.3(BRIP1):c.2400C>A (p.Tyr800Ter)

SNV
Germline

Chr17:61716043

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA400479785

rs_574552037

4 SubmittersRCV001180451 RCV003336315

NM_032043.3(BRIP1):c.1878A>T (p.Glu626Asp)

SNV
Germline

Chr17:61780318

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA400480043

rs_1567812484

4 SubmittersRCV001179676 RCV001875945 RCV005253732

NM_032043.3(BRIP1):c.1760A>G (p.His587Arg)

SNV
Germline

Chr17:61780874

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA400480314

rs_876660646

3 SubmittersRCV001187524 RCV004570384

NM_032043.3(BRIP1):c.436A>G (p.Ile146Val)

SNV
Germline

Chr17:61849200

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group J

Criteria Provided
Conflicting Classifications

CA400484502

rs_1567868598

3 SubmittersRCV001188273 RCV003770113

NM_000546.6(TP53):c.991C>T (p.Gln331Ter)

SNV
Germline/somatic

Chr17:7673537

Pathogenic

Hereditary cancer-predisposing syndrome
Malignant tumor of urinary bladder
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1
Condition: not provided
Neoplasm
Uterine corpus endometrial carcinoma
Mesothelioma
Melanoma
Lung cancer
Familial cancer of breast
Squamous cell carcinoma of the head and neck

Criteria Provided
Multiple Submitters
No Conflicts

CA397835674

rs_1597359130

8 SubmittersRCV001183200 RCV003332297 RCV003509657 RCV004033087 RCV004720079 RCV004671235 RCV005908918 RCV005908915 RCV005908916 RCV005908917 RCV005908913 RCV005908914

NM_007194.4(CHEK2):c.*10T>G

SNV
Germline

Chr22:28687887

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA913189011

rs_2052178966

2 SubmittersRCV001187187 RCV005245764

NM_007194.4(CHEK2):c.1043T>G (p.Leu348Ter)

SNV
Germline

Chr22:28696953

Pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA411097708

rs_878854908

4 SubmittersRCV001180499 RCV001226509

NM_007194.4(CHEK2):c.113T>C (p.Ile38Thr)

SNV
Germline

Chr22:28734609

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA411091371

rs_2054329519

3 SubmittersRCV001205195 RCV001187819

NM_000465.4(BARD1):c.1396-8T>G

SNV
Germline

Chr2:214767662

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA913188275

rs_1694279608

2 SubmittersRCV001176402 RCV001224035

NM_000051.4(ATM):c.8152-7T>C

SNV
Germline

Chr11:108335838

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA913188382

rs_2086778829

3 SubmittersRCV001187960 RCV002560000 RCV004590182

NM_024675.4(PALB2):c.2749-15C>G

SNV
Germline

Chr16:23624109

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA913188718

rs_1567214528

2 SubmittersRCV001188503 RCV002559151

NM_024675.4(PALB2):c.212-1G>A

SNV
Germline

Chr16:23636335

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA395138998

rs_1597099910

4 SubmittersRCV001180262 RCV001875981

NM_000051.4(ATM):c.2251-1G>A

SNV
Germline

Chr11:108257480

Likely pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382539494

rs_876659710

4 SubmittersRCV001178059 RCV001806034 RCV004033015

NM_000051.4(ATM):c.2638+5A>G

SNV
Germline

Chr11:108267347

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA1139662214

rs_2081314537

4 SubmittersRCV001175810 RCV002558792 RCV004590117

NM_000051.4(ATM):c.3285-14T>C

SNV
Germline

Chr11:108279477

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA913187701

rs_2082112216

3 SubmittersRCV001176378 RCV002067878 RCV004590122

NM_000051.4(ATM):c.5497-10T>C

SNV
Germline

Chr11:108304665

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA602132770

rs_1457831101

3 SubmittersRCV001190539 RCV001876228 RCV004590198

NM_007194.4(CHEK2):c.909-1G>C

SNV
Germline

Chr22:28699938

Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA411100222

rs_886039721

4 SubmittersRCV001175976 RCV001378952

NM_024675.4(PALB2):c.2997-15C>A

SNV
Germline

Chr16:23621493

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA1139664575

rs_1966773679

2 SubmittersRCV001192051 RCV002069179

NM_024675.4(PALB2):c.3351-10A>T

SNV
Germline

Chr16:23603679

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA913188700

rs_1057517611

2 SubmittersRCV001189248 RCV002560044

NM_024675.4(PALB2):c.2586+8G>T

SNV
Germline

Chr16:23629196

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA913188730

rs_1060504708

3 SubmittersRCV001176656 RCV005093770

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_032043.3(BRIP1):c.2098-13T>G

SNV
Germline

Chr17:61744604

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group J

Criteria Provided
Conflicting Classifications

CA985268002

rs_2077035315

2 SubmittersRCV001184397 RCV002559059

NM_032043.3(BRIP1):c.1795-17A>G

SNV
Germline

Chr17:61780418

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group J

Criteria Provided
Conflicting Classifications

CA913187807

rs_1567812766

2 SubmittersRCV001187416 RCV003117825

NM_032043.3(BRIP1):c.1474-14G>A

SNV
Germline

Chr17:61784438

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group J

Criteria Provided
Conflicting Classifications

CA913187813

rs_2077673537

2 SubmittersRCV001188187 RCV002559146

NM_007194.4(CHEK2):c.908+2T>A

SNV
Germline

Chr22:28703503

Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA411100866

rs_1601752066

2 SubmittersRCV001184885 RCV003336319

NM_000465.4(BARD1):c.1470C>G (p.Thr490=)

SNV
Germline

Chr2:214767580

Conflicting classifications of pathogenicity

not specified
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA431129525

rs_758895846

2 SubmittersRCV001192858 RCV004789461

NM_000051.4(ATM):c.703G>A (p.Ala235Thr)

SNV
Germline

Chr11:108244828

Conflicting classifications of pathogenicity

not specified
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA228384602

rs_76379269

3 SubmittersRCV001193633 RCV003469309 RCV005732299

NM_004360.5(CDH1):c.321C>G (p.Tyr107Ter)

SNV
Germline

Chr16:68801827

Pathogenic/Likely pathogenic

Familial cancer of breast
Hereditary diffuse gastric adenocarcinoma
Endometrial carcinoma
Hereditary diffuse gastric adenocarcinoma
Ovarian cancer
Familial cancer of breast
Blepharocheilodontic syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA396457381

rs_765929630

3 SubmittersRCV001193903 RCV003336328 RCV005021486

NM_032043.3(BRIP1):c.2804T>C (p.Val935Ala)

SNV
Germline

Chr17:61685937

Conflicting classifications of pathogenicity

not specified
Familial cancer of breast
Fanconi anemia complementation group J
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA400481497

rs_4988356

3 SubmittersRCV001194202 RCV001348251 RCV005532859

NM_024675.4(PALB2):c.2514+5A>G

SNV
Germline

Chr16:23629635

Conflicting classifications of pathogenicity

not specified
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA1139664588

rs_1966855329

2 SubmittersRCV001192770 RCV005428132

NM_032043.3(BRIP1):c.2493-10T>A

SNV
Germline

Chr17:61693522

Conflicting classifications of pathogenicity

not specified
Familial cancer of breast
Fanconi anemia complementation group J
Hereditary cancer-predisposing syndrome
Familial ovarian cancer

Criteria Provided
Conflicting Classifications

CA8690495

rs_776255327

5 SubmittersRCV001194201 RCV001473865 RCV001525934 RCV005601699

NM_007194.4(CHEK2):c.1375+10T>C

SNV
Germline

Chr22:28695117

Conflicting classifications of pathogenicity

not specified
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA1139667016

rs_2052511807

2 SubmittersRCV001193085 RCV005245782

NM_032043.3(BRIP1):c.3661C>G (p.Leu1221Val)

SNV
Germline

Chr17:61683385

Conflicting classifications of pathogenicity

Condition: not provided
Familial cancer of breast
Fanconi anemia complementation group J
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA400477876

rs_2061298344

3 SubmittersRCV001194759 RCV003770189 RCV004950304

NM_032043.3(BRIP1):c.2839C>T (p.Gln947Ter)

SNV
Germline

Chr17:61685902

Pathogenic/Likely pathogenic

Condition: not provided
Familial cancer of breast
Fanconi anemia complementation group J
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA400481374

rs_2061353270

4 SubmittersRCV001194732 RCV001863070 RCV002436768

NM_032043.3(BRIP1):c.1629-498A>T

SNV
Germline

Chr17:61781503

Conflicting classifications of pathogenicity

Fanconi anemia complementation group J
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group J

Criteria Provided
Conflicting Classifications

CA773808604

rs_1203185416

3 SubmittersRCV001194751 RCV004033447 RCV005394803

NM_032043.3(BRIP1):c.205+5G>T

SNV
Germline

Chr17:61859791

Conflicting classifications of pathogenicity

Fanconi anemia complementation group J
Familial cancer of breast
Familial cancer of breast
Fanconi anemia complementation group J
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA913187501

rs_2078948368

4 SubmittersRCV001194698 RCV002290629 RCV002561022 RCV006372196

NM_024675.4(PALB2):c.2383C>G (p.Gln795Glu)

SNV
Germline

Chr16:23629771

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA395124613

rs_1966856854

3 SubmittersRCV001196352 RCV003293986

NM_003620.4(PPM1D):c.1405A>G (p.Lys469Glu)

SNV
Germline

Chr17:60663139

Conflicting classifications of pathogenicity

Familial cancer of breast
Condition: not provided
PPM1D-related disorder

Criteria Provided
Conflicting Classifications

CA8687778

rs_61756416

4 SubmittersRCV001196506 RCV002561045 RCV003945912

NM_000051.4(ATM):c.8268+2T>C

SNV
Germline

Chr11:108335963

Likely pathogenic

Familial cancer of breast
Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA382562706

rs_1565544020

3 SubmittersRCV001197869 RCV002561058 RCV005492955

NM_000051.4(ATM):c.1564G>T (p.Glu522Ter)

SNV
Germline

Chr11:108251029

Pathogenic

Condition: not provided
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382534365

rs_2080118610

4 SubmittersRCV001200381 RCV001388321 RCV004033486

NM_024675.4(PALB2):c.3251C>A (p.Ser1084Ter)

SNV
Germline

Chr16:23607963

Likely pathogenic

Malignant tumor of breast
Familial cancer of breast

Criteria Provided
Single Submitter

CA395139820

rs_62625271

2 SubmittersRCV001201230 RCV003485687

NM_024675.4(PALB2):c.2749-5T>C

SNV
Germline

Chr16:23624099

Conflicting classifications of pathogenicity

not specified
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA494181324

rs_1966828330

2 SubmittersRCV001201202 RCV005428134

NM_000465.4(BARD1):c.2036T>A (p.Leu679Ter)

SNV
Germline

Chr2:214728974

Pathogenic/Likely pathogenic

Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA350450757

rs_1692227690

2 SubmittersRCV001216428

NM_000465.4(BARD1):c.1904G>A (p.Trp635Ter)

SNV
Germline

Chr2:214730508

Pathogenic/Likely pathogenic

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA350451351

rs_1692308262

4 SubmittersRCV001215714 RCV002411797 RCV003493824

NM_000051.4(ATM):c.1333C>T (p.Gln445Ter)

SNV
Germline

Chr11:108250798

Pathogenic

Ataxia-telangiectasia syndrome
Familial cancer of breast
ATM-related disorder
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA382533714

rs_2080097197

5 SubmittersRCV001224898 RCV004032523 RCV004727003 RCV005629600

NM_000051.4(ATM):c.1750C>T (p.Gln584Ter)

SNV
Germline

Chr11:108251979

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA382535368

rs_2080176523

4 SubmittersRCV001222086 RCV004032436 RCV004719106 RCV005278772

NM_000051.4(ATM):c.3340A>G (p.Lys1114Glu)

SNV
Germline

Chr11:108279546

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA228363517

rs_1049900772

4 SubmittersRCV001218274 RCV002259093 RCV002504269

NM_000051.4(ATM):c.6727C>T (p.Gln2243Ter)

SNV
Germline

Chr11:108325464

Pathogenic

Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382555110

rs_1565518711

2 SubmittersRCV001214786 RCV004033943

NM_000051.4(ATM):c.8482C>T (p.Gln2828Ter)

SNV
Germline

Chr11:108345806

Pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382518055

rs_1555138125

3 SubmittersRCV001218452 RCV002447098 RCV004034070

NM_000051.4(ATM):c.9061G>T (p.Glu3021Ter)

SNV
Germline

Chr11:108365398

Pathogenic/Likely pathogenic

Ataxia-telangiectasia syndrome
Breast and/or ovarian cancer
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382531589

rs_2091244384

3 SubmittersRCV001221353 RCV003492232 RCV004032417

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_024675.4(PALB2):c.3425T>G (p.Leu1142Ter)

SNV
Germline

Chr16:23603595

Pathogenic

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA395138193

rs_1555457878

3 SubmittersRCV001215359 RCV002451471

NM_024675.4(PALB2):c.2638G>A (p.Ala880Thr)

SNV
Germline

Chr16:23626346

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA395122152

rs_1966842713

2 SubmittersRCV001217706 RCV006424742

NM_024675.4(PALB2):c.998C>A (p.Thr333Asn)

SNV
Germline

Chr16:23635548

Conflicting classifications of pathogenicity

Familial cancer of breast
Ovarian neoplasm
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA395134639

rs_1567221840

4 SubmittersRCV001223755 RCV002272420 RCV005692303 RCV006258463

NM_024675.4(PALB2):c.694G>T (p.Gly232Cys)

SNV
Germline

Chr16:23635852

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA395136393

rs_1967028555

3 SubmittersRCV001217676 RCV003584851

NM_032043.3(BRIP1):c.3328G>A (p.Glu1110Lys)

SNV
Germline

Chr17:61683718

Conflicting classifications of pathogenicity

Familial cancer of breast
Fanconi anemia complementation group J
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA400478971

rs_1060501774

2 SubmittersRCV001224097 RCV006545998

NM_032043.3(BRIP1):c.1878A>C (p.Glu626Asp)

SNV
Germline

Chr17:61780318

Conflicting classifications of pathogenicity

Fanconi anemia complementation group J
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA400480044

rs_1567812484

2 SubmittersRCV001217442 RCV002411805

NM_032043.3(BRIP1):c.66C>A (p.Tyr22Ter)

SNV
Germline

Chr17:61861474

Pathogenic/Likely pathogenic

Fanconi anemia complementation group J
Familial cancer of breast
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA400485956

rs_1603368431

3 SubmittersRCV001216804 RCV003336341 RCV004601396

NM_007194.4(CHEK2):c.1607C>T (p.Pro536Leu)

SNV
Germline

Chr22:28687922

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA411091028

rs_1601697447

3 SubmittersRCV001224872 RCV002402703

NM_007194.4(CHEK2):c.592G>A (p.Val198Ile)

SNV
Germline

Chr22:28724977

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA411106894

rs_1555926708

2 SubmittersRCV001216454 RCV002356921

NM_000465.4(BARD1):c.2279C>A (p.Ser760Ter)

SNV
Germline

Chr2:214728731

Likely pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA350449924

rs_730881425

1 SubmittersRCV001202611

NM_000465.4(BARD1):c.1068T>A (p.Asn356Lys)

SNV
Germline

Chr2:214780806

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
BARD1-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA350454121

rs_1423687196

4 SubmittersRCV001205197 RCV002411752 RCV005359936

NM_000465.4(BARD1):c.855A>T (p.Gln285His)

SNV
Germline

Chr2:214781019

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA350455218

rs_1694987168

2 SubmittersRCV001210221 RCV005298728

NM_000465.4(BARD1):c.223G>A (p.Val75Ile)

SNV
Germline

Chr2:214792438

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA350461325

rs_1559437285

3 SubmittersRCV001206238 RCV002429881 RCV006258438

NM_000051.4(ATM):c.3292C>T (p.Gln1098Ter)

SNV
Germline

Chr11:108279498

Pathogenic

Ataxia-telangiectasia syndrome
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA6265258

rs_773964990

4 SubmittersRCV001207152 RCV004033688 RCV004950333

NM_000051.4(ATM):c.5755C>T (p.Gln1919Ter)

SNV
Germline

Chr11:108307977

Pathogenic/Likely pathogenic

Ataxia-telangiectasia syndrome
Breast carcinoma
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382548011

rs_2083823146

3 SubmittersRCV001204871 RCV001554317 RCV004570434

NM_024675.4(PALB2):c.181C>T (p.Gln61Ter)

SNV
Germline

Chr16:23637880

Pathogenic

Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA395139085

rs_1967100637

2 SubmittersRCV001202645

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_032043.3(BRIP1):c.3427G>A (p.Asp1143Asn)

SNV
Germline

Chr17:61683619

Conflicting classifications of pathogenicity

Fanconi anemia complementation group J
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA400478753

rs_1217932471

2 SubmittersRCV001210482 RCV004950340

NM_032043.3(BRIP1):c.2867C>T (p.Ser956Leu)

SNV
Germline

Chr17:61685874

Conflicting classifications of pathogenicity

Fanconi anemia complementation group J
Familial cancer of breast
not specified
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA400481250

rs_761639530

5 SubmittersRCV001206417 RCV001819895 RCV002436795 RCV003442769

NM_032043.3(BRIP1):c.985C>T (p.Gln329Ter)

SNV
Germline

Chr17:61801408

Pathogenic

Familial cancer of breast
Fanconi anemia complementation group J
Gastric cancer

Criteria Provided
Single Submitter

CA400484175

rs_2077991700

2 SubmittersRCV001205614 RCV003163558

NM_032043.3(BRIP1):c.161T>G (p.Leu54Ter)

SNV
Germline

Chr17:61859840

Pathogenic/Likely pathogenic

Familial cancer of breast
Fanconi anemia complementation group J
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA400485738

rs_2078949879

3 SubmittersRCV001204419 RCV002402586 RCV004796371

NM_007194.4(CHEK2):c.1067C>G (p.Ser356Ter)

SNV
Germline

Chr22:28696929

Pathogenic

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA411097576

rs_121908703

2 SubmittersRCV001206015 RCV005802042

NM_000051.4(ATM):c.3077+1G>T

SNV
Germline

Chr11:108271407

Pathogenic/Likely pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Gastric cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA6265178

rs_192810283

5 SubmittersRCV001205809 RCV002319674 RCV003469332 RCV003163562

NM_000051.4(ATM):c.8787-2A>G

SNV
Germline

Chr11:108354809

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA382525481

rs_2089688512

8 SubmittersRCV001213644 RCV002290641 RCV002375176 RCV004778002 RCV005909027

NM_024675.4(PALB2):c.3202-2A>G

SNV
Germline

Chr16:23608014

Pathogenic/Likely pathogenic

Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA395140148

rs_1060499827

2 SubmittersRCV001207886

NM_024675.4(PALB2):c.2587-8T>G

SNV
Germline

Chr16:23626405

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided
PALB2-related disorder
PALB2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA1139664582

rs_1489345430

5 SubmittersRCV001212825 RCV003584848 RCV004783916 RCV004740615 RCV005359946

NM_032043.3(BRIP1):c.2576-1G>T

SNV
Germline

Chr17:61686166

Likely pathogenic

Familial cancer of breast
Fanconi anemia complementation group J
Condition: not provided
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA400482018

rs_587782539

3 SubmittersRCV001205350 RCV001785795 RCV003336332

NM_000465.4(BARD1):c.1811-1G>C

SNV
Germline

Chr2:214745160

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA350452403

rs_879253952

2 SubmittersRCV001222167 RCV002411819

NM_000051.4(ATM):c.185+6C>T

SNV
Germline

Chr11:108227894

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Familial cancer of breast
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1139662249

rs_1555054299

4 SubmittersRCV001224118 RCV004590244 RCV006258464

NM_000051.4(ATM):c.8672-1G>A

SNV
Germline

Chr11:108353765

Likely pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382523434

rs_876660088

4 SubmittersRCV001215246 RCV002375184 RCV004033960

NM_024675.4(PALB2):c.2586+1G>T

SNV
Germline

Chr16:23629203

Pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA395123602

rs_1375713365

1 SubmittersRCV001221542

NM_032043.3(BRIP1):c.2257+1G>A

SNV
Germline

Chr17:61744431

Likely pathogenic

Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Single Submitter

CA400482802

rs_2077029293

1 SubmittersRCV001224744

NM_007194.4(CHEK2):c.792+2T>G

SNV
Germline

Chr22:28711907

Likely pathogenic

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA411103019

rs_545982789

2 SubmittersRCV001215075 RCV004950355

NM_007194.4(CHEK2):c.792+2T>A

SNV
Germline

Chr22:28711907

Likely pathogenic

Familial cancer of breast
Ovarian carcinoma
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA411103023

rs_545982789

3 SubmittersRCV001215376 RCV001644952 RCV006274156

NM_000465.4(BARD1):c.2093G>T (p.Gly698Val)

SNV
Germline

Chr2:214728917

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA350450632

rs_1553612188

2 SubmittersRCV001236451 RCV002418812

NM_000465.4(BARD1):c.1072C>A (p.Pro358Thr)

SNV
Germline

Chr2:214780802

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA2090342

rs_769594971

2 SubmittersRCV004033231 RCV001234234

NM_000051.4(ATM):c.1433C>A (p.Ser478Ter)

SNV
Germline

Chr11:108250898

Pathogenic

Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382534051

rs_2080106350

2 SubmittersRCV001233259 RCV004033199

NM_000051.4(ATM):c.2223T>G (p.Tyr741Ter)

SNV
Germline

Chr11:108256313

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA382539134

rs_1057524111

4 SubmittersRCV001235366 RCV002430007 RCV004033279 RCV005232199

NM_000051.4(ATM):c.3687C>A (p.Tyr1229Ter)

SNV
Germline

Chr11:108282820

Pathogenic/Likely pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382523428

rs_2082303743

3 SubmittersRCV001234931 RCV003373071 RCV004570593

NM_000051.4(ATM):c.3991C>T (p.Gln1331Ter)

SNV
Germline

Chr11:108284471

Pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Gastric cancer
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382526283

rs_2082389962

4 SubmittersRCV001228896 RCV002356979 RCV003166393 RCV004032652

NM_000051.4(ATM):c.5473C>T (p.Gln1825Ter)

SNV
Germline

Chr11:108303006

Pathogenic

Ataxia-telangiectasia syndrome
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA382544405

rs_1555106553

3 SubmittersRCV001232766 RCV004033180 RCV004671281

NM_000051.4(ATM):c.7670T>A (p.Leu2557Ter)

SNV
Germline

Chr11:108331919

Pathogenic

Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382560969

rs_2086293039

2 SubmittersRCV001232125 RCV004033145

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_024675.4(PALB2):c.3307G>T (p.Val1103Leu)

SNV
Germline

Chr16:23607907

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA395139465

rs_201657283

2 SubmittersRCV001228456 RCV005384993

NM_024675.4(PALB2):c.1769C>T (p.Ala590Val)

SNV
Germline

Chr16:23630385

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA395128187

rs_1966866430

2 SubmittersRCV001234776 RCV004659430

NM_024675.4(PALB2):c.1497G>T (p.Leu499Phe)

SNV
Germline

Chr16:23635049

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA395131062

rs_748315431

2 SubmittersRCV002393582 RCV001233619

NM_024675.4(PALB2):c.1227T>A (p.Tyr409Ter)

SNV
Germline

Chr16:23635319

Pathogenic/Likely pathogenic

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA395133079

rs_1555461386

5 SubmittersRCV001229056 RCV001526202

NM_024675.4(PALB2):c.1115G>A (p.Ser372Asn)

SNV
Germline

Chr16:23635431

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA395133748

rs_786204243

2 SubmittersRCV001227673 RCV003365269

NM_032043.3(BRIP1):c.3337A>G (p.Lys1113Glu)

SNV
Germline

Chr17:61683709

Conflicting classifications of pathogenicity

Familial cancer of breast
Fanconi anemia complementation group J
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA400478952

rs_2061310712

3 SubmittersRCV001227649 RCV002322099

NM_032043.3(BRIP1):c.2229T>G (p.Tyr743Ter)

SNV
Germline

Chr17:61744460

Pathogenic

Fanconi anemia complementation group J
Familial cancer of breast
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA400482907

rs_2077030288

3 SubmittersRCV001232702 RCV003336352 RCV004601415

NM_032043.3(BRIP1):c.1069G>T (p.Glu357Ter)

SNV
Germline

Chr17:61801324

Pathogenic

Familial cancer of breast
Fanconi anemia complementation group J
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA8690810

rs_769081927

2 SubmittersRCV001234612 RCV002411870

NM_032043.3(BRIP1):c.393A>C (p.Lys131Asn)

SNV
Germline

Chr17:61849243

Conflicting classifications of pathogenicity

Familial cancer of breast
Fanconi anemia complementation group J
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA400484589

rs_2078781577

2 SubmittersRCV001231551 RCV002375233

NM_000546.6(TP53):c.626G>A (p.Arg209Lys)

SNV
Germline/somatic

Chr17:7674905

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Li-Fraumeni syndrome

Criteria Provided
Conflicting Classifications

CA397840177

rs_2073332791

3 SubmittersRCV005512965 RCV001270279 RCV001236518

NM_007194.4(CHEK2):c.1348G>T (p.Glu450Ter)

SNV
Germline

Chr22:28695154

Pathogenic

Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA411095615

rs_1555913429

2 SubmittersRCV001226833

NM_007194.4(CHEK2):c.636T>G (p.Tyr212Ter)

SNV
Germline

Chr22:28719442

Pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA411105026

rs_2053693149

1 SubmittersRCV001233646

NM_007194.4(CHEK2):c.391A>T (p.Lys131Ter)

SNV
Germline

Chr22:28725296

Pathogenic

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA411108040

rs_1275395933

3 SubmittersRCV001228603 RCV002356973

NM_007194.4(CHEK2):c.98C>A (p.Ser33Ter)

SNV
Germline

Chr22:28734624

Pathogenic

Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA411091512

rs_2054331180

2 SubmittersRCV001236386

NM_000465.4(BARD1):c.1149G>C (p.Met383Ile)

SNV
Germline

Chr2:214780725

Conflicting classifications of pathogenicity

Familial cancer of breast
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA350453962

rs_1559423780

3 SubmittersRCV001241275 RCV004727031 RCV005520470

NM_000465.4(BARD1):c.1148T>G (p.Met383Arg)

SNV
Germline

Chr2:214780726

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA2090335

rs_763596413

2 SubmittersRCV001244221 RCV004601420

NM_001776.6(ENTPD1):c.920T>A (p.Met307Lys)

SNV
Germline

Chr10:95847552

Conflicting classifications of pathogenicity

Hereditary spastic paraplegia
Familial cancer of breast
Inborn genetic diseases
Colon adenocarcinoma
Lung cancer
Gastric cancer
Hereditary spastic paraplegia 64

Criteria Provided
Conflicting Classifications

CA5621501

rs_373236811

4 SubmittersRCV001847205 RCV005909139 RCV005328645 RCV005909140 RCV005909142 RCV005909141 RCV001240553

NM_000051.4(ATM):c.3078G>C (p.Trp1026Cys)

SNV
Germline

Chr11:108272532

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA382514984

rs_876660869

4 SubmittersRCV001247764 RCV002255639 RCV003469477

NM_000051.4(ATM):c.8188C>T (p.Gln2730Ter)

SNV
Germline

Chr11:108335881

Pathogenic/Likely pathogenic

Ataxia-telangiectasia syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382562532

rs_587782317

3 SubmittersRCV001240432 RCV004796386

NM_024675.4(PALB2):c.1411G>A (p.Gly471Arg)

SNV
Germline

Chr16:23635135

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA395131327

rs_1966970790

2 SubmittersRCV001244884 RCV004944949

NM_024675.4(PALB2):c.577A>G (p.Thr193Ala)

SNV
Germline

Chr16:23635969

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
not specified

Criteria Provided
Conflicting Classifications

CA395136777

rs_1967037000

3 SubmittersRCV001244167 RCV002357041 RCV003493830

NM_032043.3(BRIP1):c.2575G>A (p.Gly859Arg)

SNV
Germline

Chr17:61693430

Conflicting classifications of pathogenicity

Fanconi anemia complementation group J
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA400482306

rs_2061476512

4 SubmittersRCV001243419 RCV002430034 RCV003478750

NM_007194.4(CHEK2):c.298C>T (p.Gln100Ter)

SNV
Germline

Chr22:28734424

Pathogenic/Likely pathogenic

Familial cancer of breast
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA411090282

rs_2054311767

5 SubmittersRCV001247249 RCV003442813 RCV005540345

NM_000465.4(BARD1):c.1678-2A>G

SNV
Germline

Chr2:214745856

Pathogenic/Likely pathogenic

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA350453361

rs_1693089850

3 SubmittersRCV001229381 RCV002402717

NM_000051.4(ATM):c.2639-2A>G

SNV
Germline

Chr11:108268408

Likely pathogenic

Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382544962

rs_1591593566

2 SubmittersRCV001236243 RCV004033306

NM_000051.4(ATM):c.3153+1G>T

SNV
Germline

Chr11:108272608

Likely pathogenic

Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382515413

rs_2081646501

3 SubmittersRCV001225643 RCV003462769

NM_000051.4(ATM):c.3402+1G>T

SNV
Germline

Chr11:108279609

Likely pathogenic

Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382517892

rs_1565439606

2 SubmittersRCV001234522 RCV004033245

NM_000051.4(ATM):c.6572+1G>T

SNV
Germline

Chr11:108321421

Likely pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382554458

rs_587779856

6 SubmittersRCV001234037 RCV003584867 RCV003449729 RCV005040068

NM_024675.4(PALB2):c.2749-1G>A

SNV
Germline

Chr16:23624095

Likely pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA395145276

rs_1060502804

1 SubmittersRCV001238219

NM_000051.4(ATM):c.7630-1G>A

SNV
Germline

Chr11:108331878

Pathogenic/Likely pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Malignant tumor of breast
Inherited breast cancer and ovarian cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA382560884

rs_2086285148

6 SubmittersRCV001245396 RCV002393650 RCV003469471 RCV006453603 RCV006437029

NM_000051.4(ATM):c.8787-3T>C

SNV
Germline

Chr11:108354808

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
not specified
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA1139662282

rs_2089687765

5 SubmittersRCV001239227 RCV002375261 RCV003987807 RCV004590260

NM_007194.4(CHEK2):c.684-2A>T

SNV
Germline

Chr22:28712019

Likely pathogenic

Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA411103530

rs_2053419665

2 SubmittersRCV001243341

NM_000152.5(GAA):c.2041-1G>A

SNV
Germline

Chr17:80113217

Pathogenic/Likely pathogenic

Glycogen storage disease, type II
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA8815596

rs_760731229

3 SubmittersRCV001249033 RCV005909192

NM_007194.4(CHEK2):c.599T>C (p.Val200Ala)

SNV
Germline

Chr22:28719479

Conflicting classifications of pathogenicity

Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA411105146

rs_2053696720

2 SubmittersRCV001250441

NM_000465.4(BARD1):c.895A>G (p.Thr299Ala)

SNV
Germline

Chr2:214780979

Conflicting classifications of pathogenicity

Familial cancer of breast
Malignant tumor of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA350455128

rs_1694983227

4 SubmittersRCV001253750 RCV001354417 RCV004609715

NM_005957.5(MTHFR):c.475+1G>T

SNV
Germline

Chr1:11801160

Pathogenic/Likely pathogenic

Homocystinuria due to methylene tetrahydrofolate reductase deficiency
Neural tube defects, folate-sensitive
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA595658

rs_748397580

4 SubmittersRCV001253140 RCV003462834 RCV005909223

NM_000465.4(BARD1):c.1811-2A>G

SNV
Germline

Chr2:214745161

Pathogenic/Likely pathogenic

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA350452409

rs_1693044156

3 SubmittersRCV001253486 RCV002259099

NM_000382.3(ALDH3A2):c.471+1G>C

SNV
Germline

Chr17:19652633

Pathogenic

Sjögren-Larsson syndrome
Familial cancer of breast

Criteria Provided
Single Submitter

CA8442811

rs_769821628

2 SubmittersRCV001255500 RCV005909231

NM_000051.4(ATM):c.2922-1G>A

SNV
Germline

Chr11:108271250

Pathogenic/Likely pathogenic

Ataxia-telangiectasia syndrome
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA382547060

rs_1555084931

4 SubmittersRCV001255860 RCV004035355 RCV005503057

NM_000465.4(BARD1):c.212G>A (p.Cys71Tyr)

SNV
Germline

Chr2:214797064

Pathogenic/Likely pathogenic

Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA350462134

rs_1064793959

3 SubmittersRCV001257155

NM_000051.4(ATM):c.8054C>A (p.Ser2685Ter)

SNV
Germline

Chr11:108335012

Pathogenic/Likely pathogenic

Familial cancer of breast
Gastric cancer

No Assertion Criteria Provided

CA382561936

rs_2086676230

2 SubmittersRCV001257342 RCV003166587

NM_000465.4(BARD1):c.1394T>A (p.Leu465Ter)

SNV
Germline

Chr2:214769233

Pathogenic

Condition: not provided
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA350450053

rs_1370053894

4 SubmittersRCV001268558 RCV001880167 RCV005306373

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_004360.5(CDH1):c.583C>T (p.Gln195Ter)

SNV
Germline

Chr16:68808744

Pathogenic

Condition: not provided
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA396457954

rs_1960737851

2 SubmittersRCV001268290 RCV002467455

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_000546.6(TP53):c.840A>T (p.Arg280Ser)

SNV
Germline/somatic

Chr17:7673780

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1
Colorectal cancer

Criteria Provided
Conflicting Classifications

CA397836831

rs_1567547687

5 SubmittersRCV001270277 RCV002447244 RCV003509664 RCV004035437 RCV006250183

NM_000546.6(TP53):c.400T>G (p.Phe134Val)

SNV
Germline/somatic

Chr17:7675212

Conflicting classifications of pathogenicity

Familial cancer of breast
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Conflicting Classifications

CA397842830

rs_267605077

3 SubmittersRCV001270266 RCV001324043 RCV004035436

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_000465.4(BARD1):c.1395+4G>A

SNV
Germline

Chr2:214769228

Conflicting classifications of pathogenicity

Condition: not provided
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA764583808

rs_1025329798

4 SubmittersRCV001284524 RCV001871659 RCV003584879

NM_024675.4(PALB2):c.2878C>T (p.Leu960=)

SNV
Germline

Chr16:23623087

Conflicting classifications of pathogenicity

Condition: not provided
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA494180493

rs_1966803657

2 SubmittersRCV001284199 RCV002069504

NM_024675.4(PALB2):c.2136G>T (p.Ala712=)

SNV
Germline

Chr16:23630018

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA494461158

rs_905951607

3 SubmittersRCV001284031 RCV003584878 RCV005423955

NM_032043.3(BRIP1):c.1896T>C (p.Thr632=)

SNV
Germline

Chr17:61780300

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group J
Familial cancer of breast
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA501150320

rs_2077595308

4 SubmittersRCV001283952 RCV003294183 RCV003770435 RCV004789512

NM_007194.4(CHEK2):c.792+7A>T

SNV
Germline

Chr22:28711902

Conflicting classifications of pathogenicity

Condition: not provided
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA1139666365

rs_1601782720

3 SubmittersRCV001284621 RCV001411174

NM_002439.5(MSH3):c.1897-12T>A

SNV
Germline

Chr5:80767921

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA3328091

rs_56244266

5 SubmittersRCV001810645 RCV002258179 RCV005910910

NM_000051.4(ATM):c.354A>G (p.Gln118=)

SNV
Germline

Chr11:108235692

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA476670351

rs_1188306380

4 SubmittersRCV001288009 RCV001432789 RCV002339712 RCV004590300

NM_024675.4(PALB2):c.108+2T>C

SNV
Germline

Chr16:23638068

Likely pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA395139559

rs_2142459705

1 SubmittersRCV001523835

NM_000465.4(BARD1):c.1222A>G (p.Met408Val)

SNV
Germline

Chr2:214780652

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA350453670

rs_1694946023

2 SubmittersRCV001299180 RCV004036129

NM_000465.4(BARD1):c.952A>G (p.Asn318Asp)

SNV
Germline

Chr2:214780922

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA2090359

rs_565582076

3 SubmittersRCV001301695 RCV002375364

NM_024675.4(PALB2):c.2404T>A (p.Cys802Ser)

SNV
Germline

Chr16:23629750

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA395124439

rs_1966856613

2 SubmittersRCV001296311 RCV006406882

NM_024675.4(PALB2):c.1012C>T (p.Pro338Ser)

SNV
Germline

Chr16:23635534

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA395134436

rs_560853558

3 SubmittersRCV001300197 RCV002350539 RCV005639304

NM_032043.3(BRIP1):c.8C>A (p.Ser3Ter)

SNV
Germline

Chr17:61861532

Conflicting classifications of pathogenicity

Familial cancer of breast
Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA400486087

rs_1603368491

2 SubmittersRCV001306224 RCV003316838

NM_004360.5(CDH1):c.684C>G (p.Tyr228Ter)

SNV
Germline

Chr16:68808845

Pathogenic/Likely pathogenic

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA396458154

rs_1960744183

3 SubmittersRCV001310105 RCV006372529

NM_000465.4(BARD1):c.505A>G (p.Ile169Val)

SNV
Germline

Chr2:214781369

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Breast and/or ovarian cancer

Criteria Provided
Conflicting Classifications

CA2090418

rs_765494437

3 SubmittersRCV001326878 RCV002341679 RCV003492247

NM_000465.4(BARD1):c.62G>C (p.Arg21Pro)

SNV
Germline

Chr2:214809508

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA350465208

rs_1696468454

2 SubmittersRCV001314585 RCV002357129

NM_000051.4(ATM):c.3248A>G (p.His1083Arg)

SNV
Germline

Chr11:108272816

Pathogenic/Likely pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382516045

rs_2081667850

5 SubmittersRCV001312362 RCV002322218 RCV004034254

NM_000051.4(ATM):c.4436+5A>G

SNV
Germline

Chr11:108289806

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA1998785861

rs_2082687178

3 SubmittersRCV001325144 RCV004590328 RCV005732380

NM_000051.4(ATM):c.8151+6C>T

SNV
Germline

Chr11:108335115

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA228420427

rs_910779363

3 SubmittersRCV001322452 RCV001524376 RCV004590326

NM_024675.4(PALB2):c.1556C>A (p.Ala519Asp)

SNV
Germline

Chr16:23634990

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA395130790

rs_1340452845

2 SubmittersRCV001317568 RCV002402884

NM_024675.4(PALB2):c.16G>A (p.Gly6Arg)

SNV
Germline

Chr16:23641142

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA395141196

rs_1967234587

2 SubmittersRCV001322515 RCV005692323

NM_032043.3(BRIP1):c.2948T>C (p.Ile983Thr)

SNV
Germline

Chr17:61684098

Conflicting classifications of pathogenicity

Familial cancer of breast
Fanconi anemia complementation group J
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA400480683

rs_587781417

3 SubmittersRCV001322142 RCV001525964

NM_032043.3(BRIP1):c.325A>G (p.Asn109Asp)

SNV
Germline

Chr17:61857112

Conflicting classifications of pathogenicity

Familial cancer of breast
Fanconi anemia complementation group J
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA400485367

rs_2078907245

3 SubmittersRCV001313761 RCV003478771 RCV004601448

NM_007194.4(CHEK2):c.1A>T (p.Met1Leu)

SNV
Germline

Chr22:28734721

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA411092191

rs_863224748

3 SubmittersRCV001322999 RCV002418968

NM_000465.4(BARD1):c.827C>G (p.Thr276Ser)

SNV
Germline

Chr2:214781047

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA350455415

rs_1694989668

3 SubmittersRCV001339416 RCV001806130

NM_000465.4(BARD1):c.577G>A (p.Glu193Lys)

SNV
Germline

Chr2:214781297

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA350456852

rs_1695015277

2 SubmittersRCV001340142 RCV003294334

NM_000465.4(BARD1):c.392G>A (p.Ser131Asn)

SNV
Germline

Chr2:214781482

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA350458182

rs_1163172447

2 SubmittersRCV001337704 RCV002377431

NM_000465.4(BARD1):c.355G>A (p.Glu119Lys)

SNV
Germline

Chr2:214792306

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA350460753

rs_1559436782

2 SubmittersRCV001343080 RCV002456488

NM_000051.4(ATM):c.4997A>C (p.Glu1666Ala)

SNV
Germline

Chr11:108297374

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA382538563

rs_1457261046

5 SubmittersRCV001347611 RCV002341724 RCV003238352 RCV003469579

NM_000051.4(ATM):c.9170G>C (p.Ter3057Ser)

SNV
Germline

Chr11:108365507

Likely pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382532215

rs_2091262802

3 SubmittersRCV001349275 RCV002447428 RCV004036579

NM_000260.4(MYO7A):c.6091C>T (p.Arg2031Trp)

SNV
Germline

Chr11:77211191

Conflicting classifications of pathogenicity

Condition: not provided
Usher syndrome type 1B
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA6198934

rs_369460086

4 SubmittersRCV001343868 RCV001825897 RCV005911155

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.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_024675.4(PALB2):c.2707G>A (p.Ala903Thr)

SNV
Germline

Chr16:23626277

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA395121924

rs_1324636666

2 SubmittersRCV001340061 RCV002438773

NM_024675.4(PALB2):c.2566C>G (p.Gln856Glu)

SNV
Germline

Chr16:23629224

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA395123721

rs_770996884

2 SubmittersRCV001341138 RCV006424772

NM_024675.4(PALB2):c.1745C>T (p.Ser582Phe)

SNV
Germline

Chr16:23630409

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA279493666

rs_865777690

2 SubmittersRCV001350098 RCV004651609

NM_024675.4(PALB2):c.1685-2A>C

SNV
Germline

Chr16:23630471

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA395128498

rs_754660432

2 SubmittersRCV001346019 RCV002412087

NM_024675.4(PALB2):c.1307A>G (p.Lys436Arg)

SNV
Germline

Chr16:23635239

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA395132422

rs_1966977995

2 SubmittersRCV001342671 RCV005385046

NM_024675.4(PALB2):c.1196C>T (p.Pro399Leu)

SNV
Germline

Chr16:23635350

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA395133260

rs_776115183

2 SubmittersRCV001352366 RCV003284250

NM_024675.4(PALB2):c.923C>T (p.Ala308Val)

SNV
Germline

Chr16:23635623

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA395135308

rs_1967009067

3 SubmittersRCV001347591 RCV004651601 RCV005861237

NM_024675.4(PALB2):c.592C>T (p.His198Tyr)

SNV
Germline

Chr16:23635954

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA395136723

rs_1967036024

2 SubmittersRCV001338145 RCV002357177

NM_024675.4(PALB2):c.553A>G (p.Lys185Glu)

SNV
Germline

Chr16:23635993

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA395136852

rs_1967038738

2 SubmittersRCV001342754 RCV004945035

NM_024675.4(PALB2):c.385C>T (p.Pro129Ser)

SNV
Germline

Chr16:23636161

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA395137461

rs_1174443228

3 SubmittersRCV001351434 RCV004036654 RCV005361554

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_032043.3(BRIP1):c.3302C>T (p.Pro1101Leu)

SNV
Germline

Chr17:61683744

Conflicting classifications of pathogenicity

Fanconi anemia complementation group J
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA400479023

rs_2061312470

2 SubmittersRCV001350068 RCV005306425

NM_032043.3(BRIP1):c.3293C>A (p.Ala1098Asp)

SNV
Germline

Chr17:61683753

Conflicting classifications of pathogenicity

Fanconi anemia complementation group J
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA400479041

rs_1361161166

2 SubmittersRCV001342709 RCV004036004

NM_032043.3(BRIP1):c.3196T>C (p.Ser1066Pro)

SNV
Germline

Chr17:61683850

Conflicting classifications of pathogenicity

Familial cancer of breast
Fanconi anemia complementation group J
Hereditary cancer-predisposing syndrome
BRIP1-related disorder

Criteria Provided
Conflicting Classifications

CA400479359

rs_1199327421

3 SubmittersRCV001350707 RCV003294378 RCV004727178

NM_032043.3(BRIP1):c.919-3T>C

SNV
Germline

Chr17:61801477

Conflicting classifications of pathogenicity

Familial cancer of breast
Fanconi anemia complementation group J
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA2269179656

rs_2077994124

3 SubmittersRCV001343393 RCV002447412 RCV004793444

NM_032043.3(BRIP1):c.114C>T (p.Ser38=)

SNV
Germline

Chr17:61859887

Conflicting classifications of pathogenicity

Fanconi anemia complementation group J
Familial cancer of breast
Condition: not provided
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA501151725

rs_2078951392

4 SubmittersRCV001340151 RCV006258543 RCV004789534 RCV004951565

NM_000465.4(BARD1):c.1904-12T>G

SNV
Germline

Chr2:214730520

Conflicting classifications of pathogenicity

Malignant tumor of breast
Familial cancer of breast
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2090120

rs_774178253

3 SubmittersRCV001357566 RCV001762614 RCV003238357

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_022356.4(P3H1):c.1170+5G>C

SNV
Germline

Chr1:42755543

Pathogenic/Likely pathogenic

Osteogenesis imperfecta type 8
P3H1-related disorder
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA801951

rs_72659353

4 SubmittersRCV001371301 RCV003405619 RCV005912558

NM_001018115.3(FANCD2):c.836C>T (p.Pro279Leu)

SNV
Germline

Chr3:10042611

Conflicting classifications of pathogenicity

Fanconi anemia
Familial cancer of breast
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA70026691

rs_752880854

3 SubmittersRCV001366801 RCV005627428 RCV004619673

NM_000051.4(ATM):c.815A>G (p.Asn272Ser)

SNV
Germline

Chr11:108244940

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA382529403

rs_1555067189

4 SubmittersRCV001372405 RCV002420840 RCV003469615

NM_000051.4(ATM):c.3343C>T (p.Leu1115Phe)

SNV
Germline

Chr11:108279549

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Breast and/or ovarian cancer
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA6265265

rs_752339681

4 SubmittersRCV001365671 RCV001799073 RCV003469603 RCV005493032

NM_024675.4(PALB2):c.3351G>A (p.Arg1117=)

SNV
Germline

Chr16:23603669

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA494173844

rs_1966406887

2 SubmittersRCV001362324 RCV004036835

NM_024675.4(PALB2):c.2348C>T (p.Ala783Val)

SNV
Germline

Chr16:23629806

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA395124890

rs_1473991269

2 SubmittersRCV001373883 RCV004037588

NM_024675.4(PALB2):c.557A>G (p.Asn186Ser)

SNV
Germline

Chr16:23635989

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA395136839

rs_587782164

2 SubmittersRCV001371738 RCV004037514

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_032043.3(BRIP1):c.1237G>C (p.Val413Leu)

SNV
Germline

Chr17:61799203

Conflicting classifications of pathogenicity

Familial cancer of breast
Fanconi anemia complementation group J
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA400483627

rs_2145305445

2 SubmittersRCV001367939 RCV004951625

NM_000465.4(BARD1):c.2101C>T (p.Gln701Ter)

SNV
Germline

Chr2:214728909

Likely pathogenic

Familial cancer of breast
Hereditary cancer-predisposing syndrome
BARD1-related cancer predisposition

Criteria Provided
Multiple Submitters
No Conflicts

CA350450619

rs_587782348

3 SubmittersRCV001377053 RCV002420850 RCV005601772

NM_000465.4(BARD1):c.216-2A>G

SNV
Germline

Chr2:214792447

Likely pathogenic

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA350461346

rs_2106135562

3 SubmittersRCV001377233 RCV003584915

NM_000465.4(BARD1):c.215+1G>A

SNV
Germline

Chr2:214797060

Likely pathogenic

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA350462115

rs_2106145519

2 SubmittersRCV001379969 RCV003169942

NM_000051.4(ATM):c.2638+1G>T

SNV
Germline

Chr11:108267343

Pathogenic/Likely pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Gastric cancer
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382544377

rs_2135509713

6 SubmittersRCV001376915 RCV002432057 RCV003169932 RCV004037628

NM_000051.4(ATM):c.3993+2T>C

SNV
Germline

Chr11:108284475

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Gastric cancer
Familial cancer of breast
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA382526313

rs_2135710273

5 SubmittersRCV001377633 RCV003169934 RCV003169935 RCV004037631 RCV005040236

NM_000051.4(ATM):c.4436+1G>A

SNV
Germline

Chr11:108289802

Pathogenic/Likely pathogenic

Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382532298

rs_1555097894

2 SubmittersRCV001379458 RCV004037637

NM_000051.4(ATM):c.6807+2T>C

SNV
Germline

Chr11:108325546

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA382555645

rs_2136319469

3 SubmittersRCV001379619 RCV004037638 RCV006352231

NM_000051.4(ATM):c.7307+1G>A

SNV
Germline

Chr11:108329239

Pathogenic/Likely pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382559849

rs_2086003529

5 SubmittersRCV001377732 RCV002384543 RCV003469630

NM_000051.4(ATM):c.7515+1G>T

SNV
Germline

Chr11:108330422

Pathogenic/Likely pathogenic

Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382560619

rs_1591161831

4 SubmittersRCV001379897 RCV004037639

NM_000051.4(ATM):c.8151+1G>A

SNV
Germline

Chr11:108335110

Pathogenic/Likely pathogenic

Ataxia-telangiectasia syndrome
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA382562272

rs_1591192583

4 SubmittersRCV001377244 RCV004037629 RCV004951653

NM_000051.4(ATM):c.8419-2A>C

SNV
Germline

Chr11:108345741

Likely pathogenic

Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382517698

rs_1555137917

3 SubmittersRCV001378008 RCV003469632

NM_032520.5(GNPTG):c.52+1G>C

SNV
Germline

Chr16:1352018

Likely pathogenic

Condition: not provided
GNPTG-mucolipidosis
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA394183947

rs_2141632749

4 SubmittersRCV001379129 RCV005014520 RCV005912612

NM_024675.4(PALB2):c.2749-2A>G

SNV
Germline

Chr16:23624096

Likely pathogenic

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA395145280

rs_1555459747

2 SubmittersRCV001379740 RCV002438885

NM_017777.4(MKS1):c.81-2A>T

SNV
Germline

Chr17:58218731

Likely pathogenic

Meckel-Gruber syndrome
Joubert syndrome
Familial cancer of breast

Criteria Provided
Single Submitter

CA8669645

rs_756709080

2 SubmittersRCV001379397 RCV005912615

NM_032043.3(BRIP1):c.628-2A>T

SNV
Germline

Chr17:61808759

Likely pathogenic

Familial cancer of breast
Fanconi anemia complementation group J

Criteria Provided
Single Submitter

CA400485252

rs_995056553

1 SubmittersRCV001376837

NM_032043.3(BRIP1):c.508-2A>C

SNV
Germline

Chr17:61847222

Pathogenic/Likely pathogenic

Familial cancer of breast
Fanconi anemia complementation group J

Criteria Provided
Multiple Submitters
No Conflicts

CA400483490

rs_876659707

2 SubmittersRCV001377433

NM_032043.3(BRIP1):c.380-1G>C

SNV
Germline

Chr17:61849257

Likely pathogenic

Familial cancer of breast
Fanconi anemia complementation group J

Criteria Provided
Single Submitter

CA400484621

rs_2145767071

1 SubmittersRCV001378052

NM_007194.4(CHEK2):c.1375+2T>C

SNV
Germline

Chr22:28695125

Likely pathogenic

Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA411095299

rs_1483241325

2 SubmittersRCV001377895

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_007194.4(CHEK2):c.593-2A>G

SNV
Germline

Chr22:28719487

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA411105164

rs_2146007633

2 SubmittersRCV001379343 RCV005802176

NM_000465.4(BARD1):c.1741C>T (p.Gln581Ter)

SNV
Germline

Chr2:214745791

Pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA350453017

rs_2106021020

1 SubmittersRCV001382116

NM_000465.4(BARD1):c.1048C>T (p.Gln350Ter)

SNV
Germline

Chr2:214780826

Pathogenic

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA350454164

rs_2106109048

3 SubmittersRCV001390445 RCV002404908

NM_000465.4(BARD1):c.273G>A (p.Trp91Ter)

SNV
Germline

Chr2:214792388

Pathogenic

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA350461115

rs_2106135008

4 SubmittersRCV001382119 RCV004951657

NM_000051.4(ATM):c.856C>T (p.Gln286Ter)

SNV
Germline

Chr11:108244981

Pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382529491

rs_2135242925

3 SubmittersRCV001384359 RCV002447511 RCV004037666

NM_000051.4(ATM):c.1179G>A (p.Trp393Ter)

SNV
Germline

Chr11:108249046

Pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382532542

rs_876658567

3 SubmittersRCV001380969 RCV001524545 RCV004037647

NM_000051.4(ATM):c.1262C>G (p.Ser421Ter)

SNV
Germline

Chr11:108250727

Pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382533341

rs_2135316531

3 SubmittersRCV001381307 RCV003169945 RCV004037650

NM_000051.4(ATM):c.1702A>T (p.Arg568Ter)

SNV
Germline

Chr11:108251931

Pathogenic/Likely pathogenic

Ataxia-telangiectasia syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382535241

rs_876659425

2 SubmittersRCV001384132 RCV005040256

NM_000051.4(ATM):c.4668T>A (p.Tyr1556Ter)

SNV
Germline

Chr11:108293369

Pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382534689

rs_766438805

4 SubmittersRCV001381790 RCV002341824 RCV004037652

NM_000051.4(ATM):c.5293C>T (p.Gln1765Ter)

SNV
Germline

Chr11:108301763

Pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382542711

rs_2083444895

3 SubmittersRCV001386150 RCV001525189 RCV004037679

NM_000051.4(ATM):c.6242T>A (p.Leu2081Ter)

SNV
Germline

Chr11:108317416

Pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382551223

rs_2136164699

3 SubmittersRCV001380136 RCV002368220 RCV004037641

NM_000051.4(ATM):c.6805C>T (p.Gln2269Ter)

SNV
Germline

Chr11:108325542

Pathogenic

Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382555613

rs_2085584895

3 SubmittersRCV001390349 RCV004037707

NM_000051.4(ATM):c.7753A>T (p.Lys2585Ter)

SNV
Germline

Chr11:108332002

Pathogenic/Likely pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382561150

rs_2086308918

4 SubmittersRCV001382517 RCV003584916 RCV003469678

NM_000051.4(ATM):c.8556T>G (p.Tyr2852Ter)

SNV
Germline

Chr11:108345880

Pathogenic/Likely pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382518531

rs_779394254

3 SubmittersRCV001381412 RCV002447508 RCV003469659

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_024675.4(PALB2):c.3351-1G>A

SNV
Germline

Chr16:23603670

Pathogenic/Likely pathogenic

Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 5
Pancreatic cancer, susceptibility to, 3
Fanconi anemia complementation group N

Criteria Provided
Multiple Submitters
No Conflicts

CA395138431

rs_1597062406

2 SubmittersRCV001385043 RCV005014535

NM_024675.4(PALB2):c.3058C>T (p.Gln1020Ter)

SNV
Germline

Chr16:23621417

Pathogenic

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA395143007

rs_2142327117

3 SubmittersRCV001380135 RCV002447506

NM_024675.4(PALB2):c.2631G>A (p.Trp877Ter)

SNV
Germline

Chr16:23626353

Pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA395122169

rs_2142355636

1 SubmittersRCV001387638

NM_024675.4(PALB2):c.2041A>T (p.Lys681Ter)

SNV
Germline

Chr16:23630113

Pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA395126895

rs_2142382651

1 SubmittersRCV001388172

NM_024675.4(PALB2):c.880A>T (p.Lys294Ter)

SNV
Germline

Chr16:23635666

Pathogenic

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA395135745

rs_753676934

3 SubmittersRCV001388498 RCV002377576

NM_024675.4(PALB2):c.691A>T (p.Lys231Ter)

SNV
Germline

Chr16:23635855

Pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA395136399

rs_2142437289

1 SubmittersRCV001388611

NM_032043.3(BRIP1):c.2833G>T (p.Glu945Ter)

SNV
Germline

Chr17:61685908

Pathogenic/Likely pathogenic

Familial cancer of breast
Fanconi anemia complementation group J
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA400481401

rs_863224802

4 SubmittersRCV001389332 RCV002290705 RCV003169951

NM_032043.3(BRIP1):c.2716G>T (p.Glu906Ter)

SNV
Germline

Chr17:61686025

Pathogenic

Familial cancer of breast
Fanconi anemia complementation group J

Criteria Provided
Single Submitter

CA400481674

rs_759080195

1 SubmittersRCV001389883

NM_032043.3(BRIP1):c.2111T>G (p.Leu704Ter)

SNV
Germline

Chr17:61744578

Pathogenic

Familial cancer of breast
Fanconi anemia complementation group J
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA400483361

rs_1057517643

3 SubmittersRCV001386561 RCV002420862 RCV003336402

NM_032043.3(BRIP1):c.1709T>A (p.Leu570Ter)

SNV
Germline

Chr17:61780925

Pathogenic

Familial cancer of breast
Fanconi anemia complementation group J

Criteria Provided
Single Submitter

CA400480414

rs_2077609103

1 SubmittersRCV001386910

NM_032043.3(BRIP1):c.1699A>T (p.Lys567Ter)

SNV
Germline

Chr17:61780935

Pathogenic

Familial cancer of breast
Fanconi anemia complementation group J

Criteria Provided
Single Submitter

CA400480436

rs_2145094630

1 SubmittersRCV001381718

NM_032043.3(BRIP1):c.254C>G (p.Ser85Ter)

SNV
Germline

Chr17:61857183

Pathogenic

Familial cancer of breast
Fanconi anemia complementation group J

Criteria Provided
Single Submitter

CA400485524

rs_587781830

1 SubmittersRCV001387221

NM_032043.3(BRIP1):c.251T>A (p.Leu84Ter)

SNV
Germline

Chr17:61857186

Pathogenic

Familial cancer of breast
Fanconi anemia complementation group J
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA400485533

rs_2145830278

2 SubmittersRCV001381413 RCV002456597

NM_199242.3(UNC13D):c.1055+1G>A

SNV
Germline

Chr17:75839838

Pathogenic/Likely pathogenic

Familial hemophagocytic lymphohistiocytosis 3
Autoinflammatory syndrome
Familial cancer of breast
Malignant tumor of esophagus

Criteria Provided
Multiple Submitters
No Conflicts

CA8773158

rs_754205110

5 SubmittersRCV001383010 RCV002264288 RCV005912632 RCV005912633

NM_007194.4(CHEK2):c.1455G>A (p.Trp485Ter)

SNV
Germline

Chr22:28694038

Pathogenic/Likely pathogenic

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA411093937

rs_1601715852

4 SubmittersRCV001386595 RCV005532995

NM_007194.4(CHEK2):c.1432G>T (p.Glu478Ter)

SNV
Germline

Chr22:28694061

Pathogenic

Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA411094188

rs_2145784977

2 SubmittersRCV001384342

NM_007194.4(CHEK2):c.1400T>A (p.Leu467Ter)

SNV
Germline

Chr22:28694093

Pathogenic/Likely pathogenic

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA411094405

rs_1555913161

4 SubmittersRCV001387273 RCV002395874 RCV005437115

NM_007194.4(CHEK2):c.1367C>G (p.Ser456Ter)

SNV
Germline

Chr22:28695135

Pathogenic/Likely pathogenic

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA411095395

rs_876659827

3 SubmittersRCV001384503 RCV005638576

NM_007194.4(CHEK2):c.1155T>A (p.Cys385Ter)

SNV
Germline

Chr22:28695814

Pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA411096881

rs_2145805017

1 SubmittersRCV001389704

NM_007194.4(CHEK2):c.919G>T (p.Gly307Ter)

SNV
Germline

Chr22:28699927

Pathogenic

Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA411100140

rs_1555915533

2 SubmittersRCV001381774

NM_007194.4(CHEK2):c.830T>A (p.Leu277Ter)

SNV
Germline

Chr22:28710022

Pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA411102348

rs_1555920150

1 SubmittersRCV001380137

NM_007194.4(CHEK2):c.787G>T (p.Glu263Ter)

SNV
Germline

Chr22:28711914

Pathogenic

Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA411103046

rs_730881686

2 SubmittersRCV001390193

NM_007194.4(CHEK2):c.290G>A (p.Trp97Ter)

SNV
Germline

Chr22:28734432

Pathogenic

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA411090329

rs_2146144384

3 SubmittersRCV003335588 RCV005806751

NM_007194.4(CHEK2):c.106C>T (p.Gln36Ter)

SNV
Germline

Chr22:28734616

Pathogenic/Likely pathogenic

Familial cancer of breast
Breast and/or ovarian cancer
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA411091440

rs_2146151890

5 SubmittersRCV001383631 RCV001799077 RCV002413913 RCV002476725

NM_000465.4(BARD1):c.1568+10T>G

SNV
Germline

Chr2:214767472

Conflicting classifications of pathogenicity

Familial cancer of breast
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA431128786

rs_1375582645

4 SubmittersRCV001412269 RCV004998880 RCV003230673

NM_000465.4(BARD1):c.150C>T (p.Cys50=)

SNV
Germline

Chr2:214809420

Conflicting classifications of pathogenicity

Familial cancer of breast
Condition: not provided

Criteria Provided
Conflicting Classifications

CA350464756

rs_2106170807

3 SubmittersRCV001394500 RCV003322892

NM_007194.4(CHEK2):c.366A>G (p.Glu122=)

SNV
Germline

Chr22:28725321

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA513945298

rs_1331351515

2 SubmittersRCV001411142 RCV002258232

NM_000051.4(ATM):c.4470C>T (p.Ser1490=)

SNV
Germline

Chr11:108292652

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA476674138

rs_2135798259

5 SubmittersRCV001436033 RCV002329487 RCV004590446 RCV006258594

NM_000051.4(ATM):c.8850+7T>C

SNV
Germline

Chr11:108354881

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Familial cancer of breast
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2499220739

rs_2137355586

3 SubmittersRCV001443115 RCV004590458 RCV006437065

NM_007194.4(CHEK2):c.847-8C>T

SNV
Germline

Chr22:28703574

Conflicting classifications of pathogenicity

Familial cancer of breast
Condition: not provided

Criteria Provided
Conflicting Classifications

CA638799649

rs_2145879286

3 SubmittersRCV001424155 RCV004998891

NM_000051.4(ATM):c.1803-7T>C

SNV
Germline

Chr11:108252810

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Condition: not provided
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA2499220576

rs_2135352285

3 SubmittersRCV001450969 RCV002243227 RCV004590468

NM_000051.4(ATM):c.2364C>G (p.Ser788Arg)

SNV
Germline

Chr11:108257594

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Familial cancer of breast
Hereditary cancer-predisposing syndrome
ATM-related disorder

Criteria Provided
Conflicting Classifications

CA382540344

rs_2135408164

5 SubmittersRCV001469056 RCV004591486 RCV003584959 RCV004550218

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_024675.4(PALB2):c.2733C>T (p.Thr911=)

SNV
Germline

Chr16:23626251

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
not specified

Criteria Provided
Conflicting Classifications

CA494161170

rs_1555459927

4 SubmittersRCV001464417 RCV003365410 RCV005408916

NM_032043.3(BRIP1):c.2936A>G (p.Lys979Arg)

SNV
Germline

Chr17:61684110

Conflicting classifications of pathogenicity

Familial cancer of breast
Fanconi anemia complementation group J
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA400480710

rs_2061326120

4 SubmittersRCV001461041 RCV002439094 RCV003463043

NM_032043.3(BRIP1):c.2380-4T>C

SNV
Germline

Chr17:61716067

Conflicting classifications of pathogenicity

Fanconi anemia complementation group J
Familial cancer of breast
Hereditary cancer-predisposing syndrome
not specified
Familial cancer of breast
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2499224789

rs_2144384520

5 SubmittersRCV001455338 RCV003298780 RCV004596458 RCV004793496 RCV006258609

NM_032043.3(BRIP1):c.270C>T (p.Cys90=)

SNV
Germline

Chr17:61857167

Conflicting classifications of pathogenicity

Familial cancer of breast
Fanconi anemia complementation group J
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA501151409

rs_1060501740

2 SubmittersRCV001466839 RCV005782180

NM_000051.4(ATM):c.1434A>G (p.Ser478=)

SNV
Germline

Chr11:108250899

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA476744831

rs_2135322636

4 SubmittersRCV001484413 RCV002258280 RCV004591508

NM_000051.4(ATM):c.5244T>C (p.Ser1748=)

SNV
Germline

Chr11:108301714

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
ATM-related cancer predisposition
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA476674791

rs_2083440966

3 SubmittersRCV001479429 RCV005361623 RCV004591499

NM_000051.4(ATM):c.5675-5G>C

SNV
Germline

Chr11:108307892

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA2499220661

rs_1591731701

3 SubmittersRCV001485988 RCV004591510 RCV005278865

NM_024675.4(PALB2):c.2806T>C (p.Leu936=)

SNV
Germline

Chr16:23624037

Conflicting classifications of pathogenicity

Familial cancer of breast
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA494181112

rs_2142343280

4 SubmittersRCV001492152 RCV003225187 RCV005453304

NM_024675.4(PALB2):c.2595A>G (p.Ser865=)

SNV
Germline

Chr16:23626389

Conflicting classifications of pathogenicity

Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA494161328

rs_1597085400

3 SubmittersRCV001496554

NM_024675.4(PALB2):c.1896A>G (p.Glu632=)

SNV
Germline

Chr16:23630258

Conflicting classifications of pathogenicity

Familial cancer of breast
Condition: not provided

Criteria Provided
Conflicting Classifications

CA494461193

rs_2142386584

3 SubmittersRCV001486938 RCV006258630

NM_024675.4(PALB2):c.567A>G (p.Arg189=)

SNV
Germline

Chr16:23635979

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA494461778

rs_1597098858

2 SubmittersRCV001493501 RCV003584967

NM_032043.3(BRIP1):c.2538T>C (p.Asp846=)

SNV
Germline

Chr17:61693467

Conflicting classifications of pathogenicity

Familial cancer of breast
Fanconi anemia complementation group J
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided

Criteria Provided
Conflicting Classifications

CA501144656

rs_2144186341

4 SubmittersRCV001482164 RCV002432351 RCV004789617 RCV004998925

NM_032043.3(BRIP1):c.1140+9A>G

SNV
Germline

Chr17:61801244

Conflicting classifications of pathogenicity

Fanconi anemia complementation group J
Familial cancer of breast
Familial ovarian cancer

Criteria Provided
Conflicting Classifications

CA2499224805

rs_2145330850

2 SubmittersRCV001504014 RCV005601784

NM_000051.4(ATM):c.902-2A>T

SNV
Germline

Chr11:108246962

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Ataxia-telangiectasia syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA382530396

rs_2079877131

3 SubmittersRCV001525978 RCV003470850 RCV006467627

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.8429G>A (p.Ser2810Asn)

SNV
Germline

Chr13:32370499

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA387752542

rs_2072821561

4 SubmittersRCV001525861 RCV003156349 RCV003474003

NM_000051.4(ATM):c.5570C>A (p.Ser1857Ter)

SNV
Germline

Chr11:108304748

Pathogenic

Condition: not provided
Familial cancer of breast

Criteria Provided
Single Submitter

CA382546081

rs_2135944016

4 SubmittersRCV001529281 RCV004039205

NM_032043.3(BRIP1):c.1629-1G>A

SNV
Germline

Chr17:61781006

Likely pathogenic

Condition: not provided
Familial cancer of breast
Fanconi anemia complementation group J

Criteria Provided
Single Submitter

CA400480595

rs_1060501757

3 SubmittersRCV001529467 RCV003771637

NM_001206999.2(CIT):c.143G>A (p.Arg48Gln)

SNV
Germline

Chr12:119869155

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Melanoma
Gastric cancer
Familial cancer of breast
Clear cell carcinoma of kidney
Colon adenocarcinoma

Criteria Provided
Conflicting Classifications

CA6822504

rs_142607751

5 SubmittersRCV001532720 RCV005437255 RCV005911435 RCV005911434 RCV005911431 RCV005911433 RCV005911432

NM_032043.3(BRIP1):c.507+1G>T

SNV
Germline

Chr17:61849128

Pathogenic/Likely pathogenic

Breast carcinoma
Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group J
Familial cancer of breast
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA400484342

rs_2145761239

5 SubmittersRCV001554254 RCV002334598 RCV002568350 RCV003474007

NM_000051.4(ATM):c.3153+1G>A

SNV
Germline

Chr11:108272608

Likely pathogenic

Condition: not provided
Familial cancer of breast
Ataxia-telangiectasia syndrome
Familial colorectal cancer type X

Criteria Provided
Multiple Submitters
No Conflicts

CA382515408

rs_2081646501

4 SubmittersRCV001564543 RCV003470865 RCV002570751 RCV005361669

NM_000051.4(ATM):c.3901G>T (p.Glu1301Ter)

SNV
Germline

Chr11:108284381

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382525612

rs_2135707910

3 SubmittersRCV003188078 RCV003459801

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.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.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.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_000051.4(ATM):c.5918+14G>T

SNV
Germline

Chr11:108310329

Conflicting classifications of pathogenicity

Familial cancer of breast
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

CA2499220670

rs_2136020496

2 SubmittersRCV001693493 RCV003605765

NM_000051.4(ATM):c.5373T>C (p.Asp1791=)

SNV
Germline

Chr11:108302906

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA476674915

rs_2135928197

3 SubmittersRCV001693497 RCV004591555

NM_000051.4(ATM):c.6529C>T (p.Gln2177Ter)

SNV
Germline

Chr11:108321377

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA6265964

rs_766706861

6 SubmittersRCV001702268 RCV001868392 RCV003470879 RCV004039956

NM_000465.4(BARD1):c.1569-1G>C

SNV
Germline

Chr2:214752556

Pathogenic/Likely pathogenic

Familial cancer of breast
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA350455073

rs_1574756672

2 SubmittersRCV001730131 RCV003238378

NM_004817.4(TJP2):c.2884A>G (p.Ile962Val)

SNV
Germline

Chr9:69249378

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
Autosomal recessive nonsyndromic hearing loss 4
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA5073818

rs_199704587

5 SubmittersRCV001767266 RCV005286502 RCV005623444 RCV005920730

NM_000051.4(ATM):c.332-7G>T

SNV
Germline

Chr11:108235663

Conflicting classifications of pathogenicity

Condition: not provided
Ataxia-telangiectasia syndrome
Breast and/or ovarian cancer
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA2573053394

rs_1591474291

4 SubmittersRCV001766044 RCV002074024 RCV003492269 RCV004591562

NM_024675.4(PALB2):c.349C>T (p.Pro117Ser)

SNV
Germline

Chr16:23636197

Conflicting classifications of pathogenicity

Condition: not provided
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA395137693

rs_1413238389

3 SubmittersRCV001759141 RCV001885094 RCV004945712

NM_032043.3(BRIP1):c.2182C>T (p.Gln728Ter)

SNV
Germline

Chr17:61744507

Pathogenic/Likely pathogenic

Fanconi anemia complementation group J
Familial cancer of breast
Condition: not provided
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA400483073

rs_1296238058

3 SubmittersRCV001868799 RCV003237602 RCV003336429

NM_024675.4(PALB2):c.2275C>T (p.Gln759Ter)

SNV
Germline

Chr16:23629879

Pathogenic

Condition: not provided
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 5
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA395125377

rs_515726083

4 SubmittersRCV003237611 RCV003451919 RCV005416128 RCV004040750

NM_032043.3(BRIP1):c.1107C>A (p.Tyr369Ter)

SNV
Germline

Chr17:61801286

Pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA400483918

rs_1489355776

2 SubmittersRCV001775202

NM_000465.4(BARD1):c.1027A>G (p.Thr343Ala)

SNV
Germline

Chr2:214780847

Conflicting classifications of pathogenicity

Condition: not provided
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA350454283

rs_2106109159

3 SubmittersRCV001776492 RCV001868806 RCV002386555

NM_000465.4(BARD1):c.518C>T (p.Ala173Val)

SNV
Germline

Chr2:214781356

Conflicting classifications of pathogenicity

Condition: not provided
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA350457477

rs_1316339721

3 SubmittersRCV001777100 RCV001885141 RCV003584989

NM_007194.4(CHEK2):c.369T>G (p.Tyr123Ter)

SNV
Germline

Chr22:28725318

Pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

rs_2146070088

1 SubmittersRCV005121957

NM_024675.4(PALB2):c.1188C>A (p.Cys396Ter)

SNV
Germline

Chr16:23635358

Pathogenic

Familial cancer of breast
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA395133305

rs_587780817

3 SubmittersRCV003316849 RCV005630282

NM_000051.4(ATM):c.2251-2A>G

SNV
Germline

Chr11:108257479

Pathogenic/Likely pathogenic

Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382539486

rs_2135405559

2 SubmittersRCV001785039 RCV004040803

NM_199355.4(ADAMTS18):c.3007-1G>C

SNV
Germline

Chr16:77293259

Likely pathogenic

Condition: not provided
Familial cancer of breast

Criteria Provided
Single Submitter

CA8180644

rs_201570714

2 SubmittersRCV002541172 RCV005922459

NM_006618.5(KDM5B):c.2474+1G>A

SNV
Germline

Chr1:202742654

Conflicting classifications of pathogenicity

Intellectual disability, autosomal recessive 65
Familial cancer of breast
Hepatocellular carcinoma

Criteria Provided
Conflicting Classifications

CA1334448

rs_542983923

3 SubmittersRCV001782332 RCV005922465 RCV005922466

NM_032043.3(BRIP1):c.205+2T>C

SNV
Germline

Chr17:61859794

Pathogenic/Likely pathogenic

Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA400485637

rs_1060501763

2 SubmittersRCV001784051 RCV003336432

NM_000465.4(BARD1):c.364+1G>A

SNV
Germline

Chr2:214792296

Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA350460711

rs_2106134408

4 SubmittersRCV001804278 RCV003336439

NM_000051.4(ATM):c.2125-8A>G

SNV
Germline

Chr11:108256207

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA942015708

rs_757565418

3 SubmittersRCV001804357 RCV003605769 RCV004591572

NM_000059.4(BRCA2):c.3065A>G (p.His1022Arg)

SNV
Germline

Chr13:32337420

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA247503593

rs_1032226790

5 SubmittersRCV001804438 RCV005369958 RCV005232666

NM_000051.4(ATM):c.8851-3T>C

SNV
Germline

Chr11:108365079

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA6266484

rs_748874219

4 SubmittersRCV001805266 RCV001869532 RCV004591577

NM_000051.4(ATM):c.9040C>T (p.Gln3014Ter)

SNV
Germline

Chr11:108365377

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382531327

rs_2137911487

4 SubmittersRCV001805516 RCV002542405 RCV004040915

NM_000051.4(ATM):c.5178-11G>T

SNV
Germline

Chr11:108301637

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA6265656

rs_200876654

3 SubmittersRCV001805561 RCV002074202 RCV004591580

NM_024675.4(PALB2):c.1799T>G (p.Leu600Ter)

SNV
Germline

Chr16:23630355

Pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA395128055

rs_1966865838

3 SubmittersRCV001805610 RCV001869552

NM_004360.5(CDH1):c.1936+1G>A

SNV
Germline

Chr16:68822226

Likely pathogenic

Condition: not provided
Hereditary diffuse gastric adenocarcinoma
Hepatocellular carcinoma
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA396467289

rs_2152138630

4 SubmittersRCV001806454 RCV001869570 RCV005922610 RCV005922609

NM_207352.4(CYP4V2):c.414-1G>A

SNV
Germline

Chr4:186196939

Pathogenic/Likely pathogenic

Condition: not provided
Bietti crystalline corneoretinal dystrophy
Retinal dystrophy
Hepatocellular carcinoma
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA3162555

rs_767779208

5 SubmittersRCV001816386 RCV002267641 RCV004815642 RCV005922663 RCV005922662

NM_000051.4(ATM):c.5178-2A>G

SNV
Germline

Chr11:108301646

Pathogenic/Likely pathogenic

Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382542071

rs_2135911500

5 SubmittersRCV001823645 RCV003464154

NM_000051.4(ATM):c.903T>C (p.Gly301=)

SNV
Germline

Chr11:108246965

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
not specified

Criteria Provided
Conflicting Classifications

CA476671494

rs_876659335

3 SubmittersRCV004591589 RCV002370344 RCV001825128

NM_000051.4(ATM):c.6872G>A (p.Trp2291Ter)

SNV
Germline

Chr11:108326122

Pathogenic/Likely pathogenic

Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382556777

rs_2136334561

2 SubmittersRCV001825154 RCV003316851

NM_000051.4(ATM):c.7915A>T (p.Lys2639Ter)

SNV
Germline

Chr11:108332888

Pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382561506

rs_2136572656

3 SubmittersRCV001917093 RCV004044128 RCV004044127

NM_000465.4(BARD1):c.571G>A (p.Val191Ile)

SNV
Germline

Chr2:214781303

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA64788990

rs_200781791

2 SubmittersRCV001946400 RCV002344084

NM_000051.4(ATM):c.8686C>T (p.Gln2896Ter)

SNV
Germline/somatic

Chr11:108353780

Pathogenic

Ataxia-telangiectasia syndrome
Malignant tumor of urinary bladder
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382523594

rs_2137286457

3 SubmittersRCV001866312 RCV003332352 RCV004038992

NM_032043.3(BRIP1):c.1473+1G>T

SNV
Germline

Chr17:61793596

Likely pathogenic

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group J
Familial cancer of breast
Fanconi anemia complementation group J

Criteria Provided
Multiple Submitters
No Conflicts

CA8690739

rs_748274524

3 SubmittersRCV005535258 RCV002024150 RCV002469450

NM_032043.3(BRIP1):c.2258-1G>T

SNV
Germline

Chr17:61743135

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group J
Familial cancer of breast
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA400482769

rs_1064793887

4 SubmittersRCV004596508 RCV006372599 RCV002028035 RCV003336503

NM_007194.4(CHEK2):c.1096-2A>G

SNV
Germline

Chr22:28695875

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA411097249

rs_2145807398

2 SubmittersRCV001989399 RCV004612084

NM_007194.4(CHEK2):c.1461+1G>C

SNV
Germline

Chr22:28694031

Likely pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA411093854

rs_886039629

1 SubmittersRCV001974161

NM_007194.4(CHEK2):c.1475A>G (p.Lys492Arg)

SNV
Germline

Chr22:28689202

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA411092650

rs_2145750566

2 SubmittersRCV002018997 RCV004946970

NM_000465.4(BARD1):c.1162A>G (p.Ile388Val)

SNV
Germline

Chr2:214780712

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA350453913

rs_1553622215

2 SubmittersRCV001899262 RCV002359322

NM_000051.4(ATM):c.6975+1G>A

SNV
Germline

Chr11:108326226

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA382557513

rs_1565521129

5 SubmittersRCV001959304 RCV002361317 RCV004044563 RCV004697176

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_024675.4(PALB2):c.652G>T (p.Glu218Ter)

SNV
Germline

Chr16:23635894

Pathogenic

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA395136492

rs_2142438340

3 SubmittersRCV001872563 RCV005692376

NM_000051.4(ATM):c.3448A>T (p.Arg1150Ter)

SNV
Germline

Chr11:108281040

Pathogenic

Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382519302

rs_786201209

2 SubmittersRCV001905709 RCV004041380

NM_007194.4(CHEK2):c.883G>A (p.Glu295Lys)

SNV
Germline

Chr22:28703530

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA411101095

rs_1345979642

2 SubmittersRCV001991585 RCV003170476

NM_000465.4(BARD1):c.979A>T (p.Arg327Ter)

SNV
Germline

Chr2:214780895

Pathogenic

Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA350454573

rs_1559424358

2 SubmittersRCV001994594

NM_024675.4(PALB2):c.1352T>G (p.Leu451Ter)

SNV
Germline

Chr16:23635194

Pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA395131522

rs_1966974831

1 SubmittersRCV001941648

NM_024675.4(PALB2):c.2383C>T (p.Gln795Ter)

SNV
Germline

Chr16:23629771

Pathogenic

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Uterine corpus endometrial carcinoma

Criteria Provided
Multiple Submitters
No Conflicts

CA395124615

rs_1966856854

3 SubmittersRCV001960567 RCV004044362 RCV005924371

NM_000051.4(ATM):c.1882C>T (p.Gln628Ter)

SNV
Germline

Chr11:108252896

Pathogenic/Likely pathogenic

Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382536029

rs_2135354813

3 SubmittersRCV001939449 RCV003464298

NM_032043.3(BRIP1):c.2226C>G (p.Tyr742Ter)

SNV
Germline

Chr17:61744463

Pathogenic/Likely pathogenic

Familial cancer of breast
Fanconi anemia complementation group J
Familial ovarian cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA400482919

rs_2144696024

2 SubmittersRCV001888718 RCV005361793

NM_024675.4(PALB2):c.1187G>A (p.Cys396Tyr)

SNV
Germline

Chr16:23635359

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA395133312

rs_2142423374

2 SubmittersRCV002015186 RCV005455486

NM_000528.4(MAN2B1):c.1714G>T (p.Ala572Ser)

SNV
Germline

Chr19:12655810

Conflicting classifications of pathogenicity

Deficiency of alpha-mannosidase
Inborn genetic diseases
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA9226337

rs_377104016

4 SubmittersRCV001921103 RCV004988914 RCV005924130

NM_032043.3(BRIP1):c.1685T>C (p.Ile562Thr)

SNV
Germline

Chr17:61780949

Conflicting classifications of pathogenicity

Familial cancer of breast
Fanconi anemia complementation group J
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA400480468

rs_2077610488

2 SubmittersRCV001953339 RCV004043220

NM_000465.4(BARD1):c.364+1G>T

SNV
Germline

Chr2:214792296

Likely pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA350460714

rs_2106134408

1 SubmittersRCV001964080

NM_032043.3(BRIP1):c.1078C>T (p.Gln360Ter)

SNV
Germline

Chr17:61801315

Pathogenic

Fanconi anemia complementation group J
Familial cancer of breast
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA400483982

rs_2145334576

2 SubmittersRCV001933132 RCV003464233

NM_000465.4(BARD1):c.2246G>A (p.Arg749Lys)

SNV
Germline

Chr2:214728764

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA350450003

rs_1692200373

3 SubmittersRCV001996310 RCV002425393

NM_000465.4(BARD1):c.1199G>A (p.Ser400Asn)

SNV
Germline

Chr2:214780675

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA350453767

rs_1694948749

2 SubmittersRCV001899946 RCV003355579

NM_000051.4(ATM):c.4603C>T (p.Gln1535Ter)

SNV
Germline

Chr11:108292785

Pathogenic

Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA6265501

rs_771549673

2 SubmittersRCV001932179 RCV005621129

NM_024675.4(PALB2):c.1383T>G (p.Ser461Arg)

SNV
Germline

Chr16:23635163

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA395131385

rs_768482110

2 SubmittersRCV001889281 RCV002386668

NM_000465.4(BARD1):c.16C>T (p.Gln6Ter)

SNV
Germline

Chr2:214809554

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA350465459

rs_876658234

3 SubmittersRCV001938338 RCV002397913

NM_007194.4(CHEK2):c.1009-2A>T

SNV
Germline

Chr22:28696989

Likely pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA411097872

rs_766158073

1 SubmittersRCV002050009

NM_007194.4(CHEK2):c.998T>A (p.Leu333Ter)

SNV
Germline

Chr22:28699848

Pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA411099388

rs_2145841647

1 SubmittersRCV001950951

NM_000465.4(BARD1):c.2166C>A (p.Tyr722Ter)

SNV
Germline

Chr2:214728844

Likely pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA350450418

rs_2105987094

1 SubmittersRCV002025381

NM_007194.4(CHEK2):c.1009-2A>C

SNV
Germline

Chr22:28696989

Likely pathogenic

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA411097875

rs_766158073

3 SubmittersRCV002013271 RCV003289370

NM_024675.4(PALB2):c.440G>A (p.Arg147Lys)

SNV
Germline

Chr16:23636106

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA395137264

rs_1597099275

2 SubmittersRCV002010593 RCV005692446

NM_032043.3(BRIP1):c.3097C>T (p.Pro1033Ser)

SNV
Germline

Chr17:61683949

Conflicting classifications of pathogenicity

Familial cancer of breast
Fanconi anemia complementation group J
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA400479760

rs_876659119

2 SubmittersRCV002010641 RCV002324469

NM_032043.3(BRIP1):c.2812G>T (p.Glu938Ter)

SNV
Germline

Chr17:61685929

Pathogenic

Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Single Submitter

CA400481480

rs_199643061

1 SubmittersRCV001949273

NM_024675.4(PALB2):c.3101A>G (p.Asn1034Ser)

SNV
Germline

Chr16:23621374

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA395142818

rs_2142326183

3 SubmittersRCV002047098 RCV002324229

NM_024675.4(PALB2):c.49-1123C>G

SNV
Germline

Chr16:23639252

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA2573152327

rs_2142467185

3 SubmittersRCV001995273 RCV005455469

NM_032043.3(BRIP1):c.1326C>A (p.Cys442Ter)

SNV
Germline

Chr17:61799114

Pathogenic

Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Single Submitter

CA400483369

rs_2145300052

1 SubmittersRCV001891098

NM_024675.4(PALB2):c.758T>G (p.Leu253Arg)

SNV
Germline

Chr16:23635788

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA395136164

rs_2142435363

2 SubmittersRCV001944518 RCV004651758

NM_000465.4(BARD1):c.159-2A>C

SNV
Germline

Chr2:214797119

Pathogenic/Likely pathogenic

Familial cancer of breast
Gastric cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA350462338

rs_1424761304

3 SubmittersRCV002007896 RCV003170297

NM_024675.4(PALB2):c.787G>T (p.Glu263Ter)

SNV
Germline

Chr16:23635759

Pathogenic

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA395136048

rs_2142434483

2 SubmittersRCV001896468 RCV005382241

NM_024675.4(PALB2):c.209C>G (p.Ser70Ter)

SNV
Germline

Chr16:23637852

Pathogenic

Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA395139011

rs_763745734

2 SubmittersRCV002042347

NM_024675.4(PALB2):c.84C>A (p.Tyr28Ter)

SNV
Germline

Chr16:23638094

Pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA395139725

rs_761533286

1 SubmittersRCV002044551

NM_000465.4(BARD1):c.1450A>T (p.Lys484Ter)

SNV
Germline

Chr2:214767600

Pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA350448518

rs_1694273552

1 SubmittersRCV001962020

NM_032043.3(BRIP1):c.2094C>G (p.Tyr698Ter)

SNV
Germline

Chr17:61776404

Pathogenic

Fanconi anemia complementation group J
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA400477967

rs_1603328406

2 SubmittersRCV001874686 RCV004040478

NM_000465.4(BARD1):c.974A>G (p.His325Arg)

SNV
Germline

Chr2:214780900

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA2090355

rs_768621478

2 SubmittersRCV001920120 RCV002370470

NM_024675.4(PALB2):c.2146A>G (p.Asn716Asp)

SNV
Germline

Chr16:23630008

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA395125704

rs_2142379886

2 SubmittersRCV001919455 RCV004656741

NM_000465.4(BARD1):c.1569-2A>C

SNV
Germline

Chr2:214752557

Likely pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA350455081

rs_1693509336

1 SubmittersRCV001998229

NM_007194.4(CHEK2):c.417C>G (p.Tyr139Ter)

SNV
Germline

Chr22:28725270

Pathogenic

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA411107952

rs_200917541

2 SubmittersRCV001928907 RCV005542579

NM_024675.4(PALB2):c.1021G>T (p.Glu341Ter)

SNV
Germline

Chr16:23635525

Pathogenic

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA395134370

rs_2142428256

2 SubmittersRCV001954902 RCV002407093

NM_000465.4(BARD1):c.2003T>A (p.Leu668Ter)

SNV
Germline

Chr2:214729007

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA350450829

rs_2105988065

2 SubmittersRCV001977040 RCV002423201

NM_000051.4(ATM):c.5716C>T (p.Gln1906Ter)

SNV
Germline/somatic

Chr11:108307938

Pathogenic/Likely pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Malignant tumor of urinary bladder
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382547914

rs_2135976898

5 SubmittersRCV002039979 RCV002343891 RCV003332351 RCV003475117

NM_024675.4(PALB2):c.1967C>T (p.Pro656Leu)

SNV
Germline

Chr16:23630187

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA279493140

rs_370360082

2 SubmittersRCV001895058 RCV004945759

NM_007194.4(CHEK2):c.445-5T>C

SNV
Germline

Chr22:28725129

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA2573158016

rs_1555927050

3 SubmittersRCV001980174 RCV005542612

NM_000051.4(ATM):c.3682G>T (p.Glu1228Ter)

SNV
Germline

Chr11:108282815

Pathogenic/Likely pathogenic

Ataxia-telangiectasia syndrome
Familial cancer of breast
Ataxia-telangiectasia syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA382523352

rs_1334793787

2 SubmittersRCV002012236 RCV005042578

NM_000051.4(ATM):c.2125-1G>T

SNV
Germline

Chr11:108256214

Likely pathogenic

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA382538628

rs_1402299151

2 SubmittersRCV003466612 RCV004364802

NM_032043.3(BRIP1):c.310A>G (p.Thr104Ala)

SNV
Germline

Chr17:61857127

Conflicting classifications of pathogenicity

Familial cancer of breast
Fanconi anemia complementation group J
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA400485396

rs_2145828204

2 SubmittersRCV001874310 RCV004946790

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_000051.4(ATM):c.2838+1G>A

SNV
Germline

Chr11:108268610

Pathogenic/Likely pathogenic

Ataxia-telangiectasia syndrome
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA382545875

rs_1555083469

3 SubmittersRCV002009248 RCV004046194 RCV002441201

NM_007194.4(CHEK2):c.342G>A (p.Trp114Ter)

SNV
Germline

Chr22:28725345

Pathogenic/Likely pathogenic

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Breast carcinoma
CHEK2-related cancer predisposition

Criteria Provided
Multiple Submitters
No Conflicts

CA411108219

rs_756949505

5 SubmittersRCV001994743 RCV002458883 RCV002267643 RCV003136370

NM_007194.4(CHEK2):c.684-1G>C

SNV
Germline

Chr22:28712018

Likely pathogenic

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA411103526

rs_1298667185

4 SubmittersRCV001994083 RCV005804436

NM_000179.3(MSH6):c.3646+1G>A

SNV
Germline

Chr2:47805708

Pathogenic/Likely pathogenic

Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome 5
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA346760638

rs_1553332772

5 SubmittersRCV001974193 RCV002243498 RCV004945854 RCV005361889

NM_032043.3(BRIP1):c.627+2T>A

SNV
Germline

Chr17:61847099

Likely pathogenic

Familial cancer of breast
Fanconi anemia complementation group J
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA400482776

rs_2078745026

2 SubmittersRCV001974267 RCV004946971

NM_007194.4(CHEK2):c.320-2A>G

SNV
Germline

Chr22:28725369

Likely pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA411108310

rs_1336652138

1 SubmittersRCV002006620

NM_000051.4(ATM):c.610G>T (p.Gly204Ter)

SNV
Germline

Chr11:108244066

Pathogenic

Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA6264635

rs_147915571

2 SubmittersRCV002000096 RCV002246617

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_024675.4(PALB2):c.665T>A (p.Leu222Ter)

SNV
Germline

Chr16:23635881

Pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA395136454

rs_2142437926

1 SubmittersRCV001946504

NM_032043.3(BRIP1):c.3070G>C (p.Gly1024Arg)

SNV
Germline

Chr17:61683976

Conflicting classifications of pathogenicity

Familial cancer of breast
Fanconi anemia complementation group J
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA400479875

rs_147119272

3 SubmittersRCV002004830 RCV002442939 RCV004762273

NM_000051.4(ATM):c.8152-1G>T

SNV
Germline

Chr11:108335844

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

CA382562322

rs_1398616877

4 SubmittersRCV002246616 RCV002423131 RCV002035496

NM_032043.3(BRIP1):c.2002G>T (p.Glu668Ter)

SNV
Germline

Chr17:61776496

Pathogenic

Familial cancer of breast
Fanconi anemia complementation group J

Criteria Provided
Single Submitter

CA400478387

rs_2145031089

1 SubmittersRCV002035497

NM_007194.4(CHEK2):c.935A>G (p.Lys312Arg)

SNV
Germline

Chr22:28699911

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA411100011

rs_1157311218

2 SubmittersRCV001964652 RCV005542588

NM_000051.4(ATM):c.7195C>T (p.Gln2399Ter)

SNV
Germline/somatic

Chr11:108329126

Pathogenic

Ataxia-telangiectasia syndrome
Malignant tumor of urinary bladder
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382559601

rs_2085985186

3 SubmittersRCV001929693 RCV003332363 RCV004044339

NM_024675.4(PALB2):c.84C>G (p.Tyr28Ter)

SNV
Germline

Chr16:23638094

Pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA395139726

rs_761533286

1 SubmittersRCV001941952

NM_000051.4(ATM):c.4343T>A (p.Leu1448Ter)

SNV
Germline

Chr11:108289708

Pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Familial colorectal cancer type X

Criteria Provided
Multiple Submitters
No Conflicts

CA382531965

rs_1591663285

4 SubmittersRCV001939572 RCV002331529 RCV004793652 RCV005361867

NM_001848.3(COL6A1):c.1226C>T (p.Ala409Val)

SNV
Germline

Chr21:45992207

Conflicting classifications of pathogenicity

Bethlem myopathy 1A
Condition: not provided
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA10070160

rs_765826390

3 SubmittersRCV001989105 RCV003146460 RCV005925517

NM_000465.4(BARD1):c.2208T>A (p.Tyr736Ter)

SNV
Germline

Chr2:214728802

Pathogenic/Likely pathogenic

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA350450209

rs_2105986813

3 SubmittersRCV002046249 RCV003161291

NM_007194.4(CHEK2):c.1628T>C (p.Leu543Ser)

SNV
Germline

Chr22:28687901

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA411090963

rs_2145736622

2 SubmittersRCV001959436 RCV004612045

NM_032043.3(BRIP1):c.379+2T>C

SNV
Germline

Chr17:61857056

Likely pathogenic

Fanconi anemia complementation group J
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA400485255

rs_2145825816

2 SubmittersRCV002012730 RCV003585185

NM_032043.3(BRIP1):c.2380-2A>C

SNV
Germline

Chr17:61716065

Likely pathogenic

Fanconi anemia complementation group J
Familial cancer of breast
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA400479874

rs_2144384449

2 SubmittersRCV001986837 RCV005868523

NM_032043.3(BRIP1):c.1107C>G (p.Tyr369Ter)

SNV
Germline

Chr17:61801286

Pathogenic

Familial cancer of breast
Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA400483917

rs_1489355776

2 SubmittersRCV002002487 RCV003336475

NM_007194.4(CHEK2):c.408C>G (p.Tyr136Ter)

SNV
Germline

Chr22:28725279

Pathogenic

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA411107980

rs_911826883

2 SubmittersRCV002037950 RCV002324401

NM_000051.4(ATM):c.8451T>G (p.Tyr2817Ter)

SNV
Germline

Chr11:108345775

Pathogenic/Likely pathogenic

Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382517902

rs_2137026687

3 SubmittersRCV002002539 RCV003471145

NM_032043.3(BRIP1):c.441C>A (p.Tyr147Ter)

SNV
Germline

Chr17:61849195

Pathogenic

Familial cancer of breast
Fanconi anemia complementation group J

Criteria Provided
Single Submitter

CA400484491

rs_1603362622

1 SubmittersRCV001941606

NM_024675.4(PALB2):c.3180T>A (p.Cys1060Ter)

SNV
Germline

Chr16:23614025

Pathogenic/Likely pathogenic

Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA395141184

rs_2142298948

3 SubmittersRCV001941626

NM_000051.4(ATM):c.8418G>T (p.Met2806Ile)

SNV
Germline

Chr11:108343371

Pathogenic/Likely pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
not specified
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA6266356

rs_762744146

5 SubmittersRCV002022214 RCV002442984 RCV005414285 RCV004042438

NM_000051.4(ATM):c.6007-1G>A

SNV
Germline

Chr11:108315822

Likely pathogenic

Ataxia-telangiectasia syndrome
Condition: not provided
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382549761

rs_1365726807

3 SubmittersRCV002016474 RCV002251776 RCV004046260

NM_000465.4(BARD1):c.1568+1G>A

SNV
Germline

Chr2:214767481

Likely pathogenic

Familial cancer of breast
Gastric cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA350448062

rs_2106076135

3 SubmittersRCV002037429 RCV003164006

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_000051.4(ATM):c.658G>A (p.Ala220Thr)

SNV
Germline

Chr11:108244114

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA382528630

rs_2135227395

3 SubmittersRCV002020728 RCV005050519 RCV005281099

NM_007194.4(CHEK2):c.1543-1G>C

SNV
Germline

Chr22:28687987

Likely pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA411091533

rs_2052190289

1 SubmittersRCV001882986

NM_000051.4(ATM):c.2062G>T (p.Glu688Ter)

SNV
Germline

Chr11:108253977

Pathogenic/Likely pathogenic

Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382537490

rs_769338089

3 SubmittersRCV001936550 RCV003464251

NM_000465.4(BARD1):c.1538T>G (p.Leu513Ter)

SNV
Germline

Chr2:214767512

Conflicting classifications of pathogenicity

Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA350448188

rs_2106076340

3 SubmittersRCV001967128

NM_024675.4(PALB2):c.1804C>T (p.Gln602Ter)

SNV
Germline

Chr16:23630350

Pathogenic/Likely pathogenic

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA395128029

rs_876660475

4 SubmittersRCV001970218 RCV002407185

NM_000051.4(ATM):c.4110-2A>G

SNV
Germline

Chr11:108288975

Pathogenic/Likely pathogenic

Ataxia-telangiectasia syndrome
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA382529683

rs_2135750262

4 SubmittersRCV001951165 RCV004044381 RCV004044382

NM_032043.3(BRIP1):c.15G>A (p.Trp5Ter)

SNV
Germline

Chr17:61861525

Pathogenic/Likely pathogenic

Fanconi anemia complementation group J
Familial cancer of breast
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA400486071

rs_2078973424

3 SubmittersRCV001951174 RCV003336478 RCV004044383

NM_004360.5(CDH1):c.832G>A (p.Gly278Arg)

SNV
Germline

Chr16:68810341

Pathogenic

Hereditary diffuse gastric adenocarcinoma
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA283298493

rs_943875725

3 SubmittersRCV002036184 RCV005321097 RCV005925694

NM_000255.4(MMUT):c.545T>G (p.Met182Arg)

SNV
Germline

Chr6:49457899

Pathogenic/Likely pathogenic

Familial cancer of breast
Condition: not provided
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA3847096

rs_763208217

3 SubmittersRCV005925696 RCV002048749 RCV003314719

NM_032043.3(BRIP1):c.3221T>C (p.Ile1074Thr)

SNV
Germline

Chr17:61683825

Conflicting classifications of pathogenicity

Familial cancer of breast
Fanconi anemia complementation group J
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA400479255

rs_1219988835

2 SubmittersRCV001967633 RCV005308620

NM_000051.4(ATM):c.7788+1G>C

SNV
Germline

Chr11:108332038

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA382561225

rs_1565534524

6 SubmittersRCV001970447 RCV002407212 RCV004044625 RCV004999579

NM_000465.4(BARD1):c.1396-1G>A

SNV
Germline

Chr2:214767655

Likely pathogenic

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA350448971

rs_2106077292

4 SubmittersRCV001966470 RCV002388954

NM_000465.4(BARD1):c.316C>T (p.Gln106Ter)

SNV
Germline

Chr2:214792345

Pathogenic

BARD1-related cancer predisposition
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA350460922

rs_2106134639

3 SubmittersRCV005370020 RCV001896769

NM_000051.4(ATM):c.8265T>A (p.Tyr2755Ter)

SNV
Germline

Chr11:108335958

Pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382562698

rs_758654836

4 SubmittersRCV001962985 RCV002425323 RCV004044372

NM_024675.4(PALB2):c.2350A>T (p.Lys784Ter)

SNV
Germline

Chr16:23629804

Pathogenic/Likely pathogenic

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA395124880

rs_1833331932

4 SubmittersRCV001970020 RCV004044375 RCV005630294

NM_032043.3(BRIP1):c.1674G>A (p.Trp558Ter)

SNV
Germline

Chr17:61780960

Pathogenic

Fanconi anemia complementation group J
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA400480495

rs_2145095898

2 SubmittersRCV001946621 RCV004603110

NM_032043.3(BRIP1):c.1473+1G>C

SNV
Germline

Chr17:61793596

Likely pathogenic

Fanconi anemia complementation group J
Familial cancer of breast
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA400482027

rs_748274524

2 SubmittersRCV002033098 RCV003336449

NM_007194.4(CHEK2):c.1095+2T>A

SNV
Germline

Chr22:28696899

Likely pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA411097399

rs_1569115687

1 SubmittersRCV002041727

NM_000051.4(ATM):c.2510C>G (p.Ser837Ter)

SNV
Germline

Chr11:108267214

Pathogenic/Likely pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382543392

rs_2081303434

4 SubmittersRCV001879521 RCV002425157 RCV003470983

NM_024675.4(PALB2):c.1675C>G (p.Gln559Glu)

SNV
Germline

Chr16:23634871

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA395129922

rs_1555461154

2 SubmittersRCV001885824 RCV004656699

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_000465.4(BARD1):c.1030A>G (p.Ser344Gly)

SNV
Germline

Chr2:214780844

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA350454268

rs_1278959534

2 SubmittersRCV001901443 RCV004042602

NM_032043.3(BRIP1):c.2292A>G (p.Lys764=)

SNV
Germline

Chr17:61743100

Conflicting classifications of pathogenicity

Fanconi anemia complementation group J
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA501151123

rs_2144678763

2 SubmittersRCV001948525 RCV002442893

NM_032043.3(BRIP1):c.190C>T (p.Gln64Ter)

SNV
Germline

Chr17:61859811

Pathogenic

Fanconi anemia complementation group J
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA400485676

rs_2145849937

2 SubmittersRCV001972820 RCV002407187

NM_024675.4(PALB2):c.433A>G (p.Ser145Gly)

SNV
Germline

Chr16:23636113

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA395137290

rs_2142443524

2 SubmittersRCV002030553 RCV002331572

NM_000051.4(ATM):c.492G>A (p.Trp164Ter)

SNV
Germline

Chr11:108235830

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA382525752

rs_1555059530

4 SubmittersRCV001908978 RCV003395273 RCV004042572 RCV004946852

NM_024675.4(PALB2):c.821C>T (p.Thr274Ile)

SNV
Germline

Chr16:23635725

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA279499394

rs_867994747

2 SubmittersRCV001931483 RCV004945812

NM_007194.4(CHEK2):c.1306C>A (p.Leu436Met)

SNV
Germline

Chr22:28695196

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA323005226

rs_17882922

2 SubmittersRCV001971848 RCV005542593

NM_000465.4(BARD1):c.1930G>A (p.Val644Ile)

SNV
Germline

Chr2:214730482

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA350451254

rs_2105990789

2 SubmittersRCV002000802 RCV002407241

NM_032043.3(BRIP1):c.1629-1G>C

SNV
Germline

Chr17:61781006

Likely pathogenic

Familial cancer of breast
Fanconi anemia complementation group J
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA400480596

rs_1060501757

4 SubmittersRCV002026194 RCV003336499 RCV004603146

NM_032043.3(BRIP1):c.205+5G>A

SNV
Germline

Chr17:61859791

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA2573154343

rs_2078948368

2 SubmittersRCV005401904 RCV002019750

NM_024675.4(PALB2):c.30C>G (p.Ser10Arg)

SNV
Germline

Chr16:23641128

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA7963889

rs_758500749

2 SubmittersRCV002019440 RCV003355751

NM_000051.4(ATM):c.8851-1G>C

SNV
Germline

Chr11:108365081

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA382529521

rs_1057516537

2 SubmittersRCV001899830 RCV004039778

NM_000051.4(ATM):c.7495G>T (p.Glu2499Ter)

SNV
Germline

Chr11:108330401

Pathogenic

Ataxia-telangiectasia syndrome
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA382560544

rs_2136463344

3 SubmittersRCV001953689 RCV004044386 RCV006357151

NM_000051.4(ATM):c.6575C>G (p.Ser2192Ter)

SNV
Germline

Chr11:108325312

Pathogenic

Ataxia-telangiectasia syndrome
Familial cancer of breast
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA382554647

rs_2136306738

5 SubmittersRCV001972612 RCV002246620 RCV005432871

NM_000465.4(BARD1):c.1505C>T (p.Ala502Val)

SNV
Germline

Chr2:214767545

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA350448335

rs_2106076564

2 SubmittersRCV002035178 RCV006362603

NM_007194.4(CHEK2):c.1335C>A (p.Tyr445Ter)

SNV
Germline

Chr22:28695167

Pathogenic

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Hereditary nonpolyposis colon cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA411095773

rs_1601719469

4 SubmittersRCV001903804 RCV003365539 RCV005370025

NM_000051.4(ATM):c.153A>G (p.Gln51=)

SNV
Germline

Chr11:108227856

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA476668082

rs_2078823585

4 SubmittersRCV001906656 RCV004774530 RCV004042669 RCV004591627

NM_032043.3(BRIP1):c.2568T>A (p.Tyr856Ter)

SNV
Germline

Chr17:61693437

Pathogenic

Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Single Submitter

CA400482331

rs_370175724

1 SubmittersRCV001959201

NM_024675.4(PALB2):c.535C>T (p.Gln179Ter)

SNV
Germline

Chr16:23636011

Pathogenic

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA395136927

rs_730881903

4 SubmittersRCV001963210 RCV004945838

NM_000465.4(BARD1):c.872C>G (p.Thr291Ser)

SNV
Germline

Chr2:214781002

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA350455181

rs_2106110019

3 SubmittersRCV002047228 RCV003355567

NM_007289.4(MME):c.2010C>T (p.Gly670=)

SNV
Germline

Chr3:155172146

Conflicting classifications of pathogenicity

Condition: not provided
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA2675722

rs_201494121

3 SubmittersRCV002048301 RCV005925642

NM_007194.4(CHEK2):c.1376-2A>G

SNV
Germline

Chr22:28694119

Likely pathogenic

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA411094579

rs_2145786737

3 SubmittersRCV002029581 RCV002386915

NM_024675.4(PALB2):c.2014G>T (p.Glu672Ter)

SNV
Germline

Chr16:23630140

Pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA395127066

rs_45532440

1 SubmittersRCV001992625

NM_000051.4(ATM):c.5532C>G (p.Tyr1844Ter)

SNV
Germline

Chr11:108304710

Pathogenic

Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382545876

rs_2135943149

2 SubmittersRCV001985141 RCV004043727

NM_000051.4(ATM):c.3078-2A>C

SNV
Germline

Chr11:108272530

Pathogenic/Likely pathogenic

Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382514965

rs_2135564916

2 SubmittersRCV001888677 RCV004041231

NM_007194.4(CHEK2):c.1061T>A (p.Leu354Ter)

SNV
Germline

Chr22:28696935

Pathogenic

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA411097603

rs_2145816590

2 SubmittersRCV001974737 RCV004946908

NM_007194.4(CHEK2):c.363T>A (p.Cys121Ter)

SNV
Germline

Chr22:28725324

Pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA411108144

rs_1209379774

1 SubmittersRCV001873842

NM_007194.4(CHEK2):c.319+2T>G

SNV
Germline

Chr22:28734401

Likely pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA411090142

rs_587782401

1 SubmittersRCV002005191

NM_000051.4(ATM):c.6573-12C>A

SNV
Germline

Chr11:108325298

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA2504246836

rs_1057521666

5 SubmittersRCV002021047 RCV002361402 RCV003443000 RCV003471276

NM_000465.4(BARD1):c.898C>A (p.Pro300Thr)

SNV
Germline

Chr2:214780976

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA350455125

rs_1064793050

2 SubmittersRCV001962603 RCV006550725

NM_032043.3(BRIP1):c.628-2A>G

SNV
Germline

Chr17:61808759

Likely pathogenic

Fanconi anemia complementation group J
Familial cancer of breast
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA400485253

rs_995056553

2 SubmittersRCV001983409 RCV003336494

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_007194.4(CHEK2):c.1095+2T>C

SNV
Germline

Chr22:28696899

Likely pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA411097395

rs_1569115687

1 SubmittersRCV001986482

NM_007194.4(CHEK2):c.683+2T>A

SNV
Germline

Chr22:28719393

Likely pathogenic

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA411104815

rs_781021132

2 SubmittersRCV002021691 RCV003161271

NM_032043.3(BRIP1):c.1141-2A>T

SNV
Germline

Chr17:61799301

Likely pathogenic

Fanconi anemia complementation group J
Familial cancer of breast
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA400483841

rs_769583916

2 SubmittersRCV002021724 RCV003336502

NM_000465.4(BARD1):c.242C>G (p.Thr81Ser)

SNV
Germline

Chr2:214792419

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA350461248

rs_1553624824

2 SubmittersRCV001998117 RCV002442958

NM_000051.4(ATM):c.8152-1G>C

SNV
Germline

Chr11:108335844

Pathogenic/Likely pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382562324

rs_1398616877

4 SubmittersRCV001998146 RCV004044545 RCV004044544

NM_032043.3(BRIP1):c.1473+3A>T

SNV
Germline

Chr17:61793594

Pathogenic/Likely pathogenic

Familial cancer of breast
Fanconi anemia complementation group J
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA2269176495

rs_2077852092

2 SubmittersRCV001959254 RCV004044556

NM_032043.3(BRIP1):c.1951A>G (p.Ile651Val)

SNV
Germline

Chr17:61776547

Conflicting classifications of pathogenicity

Familial cancer of breast
Fanconi anemia complementation group J
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8690617

rs_778867622

3 SubmittersRCV001954367 RCV004603112 RCV006258725

NM_004360.5(CDH1):c.2165-1G>A

SNV
Germline

Chr16:68828173

Pathogenic/Likely pathogenic

Hereditary diffuse gastric adenocarcinoma
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA396469205

rs_1385720097

3 SubmittersRCV001978427 RCV005308653 RCV005925507

NM_000465.4(BARD1):c.1678-1G>T

SNV
Germline

Chr2:214745855

Pathogenic/Likely pathogenic

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA2090186

rs_767208318

4 SubmittersRCV001981212 RCV004947007

NM_000465.4(BARD1):c.2233T>C (p.Tyr745His)

SNV
Germline

Chr2:214728777

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA350450074

rs_771109295

2 SubmittersRCV001983943 RCV005764547

NM_007194.4(CHEK2):c.1102G>A (p.Asp368Asn)

SNV
Germline

Chr22:28695867

Conflicting classifications of pathogenicity

Familial cancer of breast
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10167722

rs_755127902

4 SubmittersRCV001984098 RCV002280201 RCV002458951

NM_000465.4(BARD1):c.153G>A (p.Ser51=)

SNV
Germline

Chr2:214809417

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA2090509

rs_761103724

5 SubmittersRCV002168847 RCV002256939

NM_004360.5(CDH1):c.1712-14G>A

SNV
Germline

Chr16:68821987

Conflicting classifications of pathogenicity

Hereditary diffuse gastric adenocarcinoma
Breast and/or ovarian cancer
Familial cancer of breast
Ovarian cancer

Criteria Provided
Conflicting Classifications

CA2573152604

rs_2152138120

4 SubmittersRCV002082285 RCV003492736 RCV005361973

NM_000051.4(ATM):c.6808-13A>G

SNV
Germline

Chr11:108326045

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial colorectal cancer type X
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA601726070

rs_1410228904

4 SubmittersRCV002148155 RCV003585214 RCV005361969 RCV004591794

NM_000051.4(ATM):c.1899-14T>C

SNV
Germline

Chr11:108253800

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast
not specified
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA2573146752

rs_2135365137

6 SubmittersRCV002194646 RCV003585200 RCV004591744 RCV006274300 RCV005397299

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_007194.4(CHEK2):c.793-7A>G

SNV
Germline

Chr22:28710066

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA638800179

rs_1569138057

3 SubmittersRCV002192562 RCV002258364

NM_000465.4(BARD1):c.1903+16G>C

SNV
Germline

Chr2:214745051

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA2573135096

rs_1693032325

2 SubmittersRCV004017908 RCV002191549

NM_000465.4(BARD1):c.216-10T>C

SNV
Germline

Chr2:214792455

Conflicting classifications of pathogenicity

Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA2573135134

rs_2106135644

2 SubmittersRCV002216974

NM_007194.4(CHEK2):c.1533T>G (p.Val511=)

SNV
Germline

Chr22:28689144

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA513944699

rs_2145748251

3 SubmittersRCV002074979 RCV004612147

NM_000051.4(ATM):c.5006-12T>G

SNV
Germline

Chr11:108299702

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1998796359

rs_2083315314

4 SubmittersRCV002082765 RCV002258361 RCV003317574 RCV003471291

NM_024675.4(PALB2):c.3456A>G (p.Pro1152=)

SNV
Germline

Chr16:23603564

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Pancreatic cancer, susceptibility to, 3
Fanconi anemia complementation group N
Breast-ovarian cancer, familial, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA494173610

rs_2142253411

3 SubmittersRCV002164567 RCV002454557 RCV005397333

NM_000051.4(ATM):c.1923A>G (p.Glu641=)

SNV
Germline

Chr11:108253838

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA476672332

rs_2135366297

4 SubmittersRCV002180899 RCV002409538 RCV004591797

NM_000064.4(C3):c.3490-10T>G

SNV
Germline

Chr19:6686912

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Cervical cancer
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA9128701

rs_372843505

5 SubmittersRCV002104929 RCV003331293 RCV005921348 RCV005921347

NM_007194.4(CHEK2):c.847-12C>G

SNV
Germline

Chr22:28703578

Conflicting classifications of pathogenicity

Familial cancer of breast
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2573158054

rs_769724628

2 SubmittersRCV002104968 RCV003149017

NM_024675.4(PALB2):c.477G>A (p.Glu159=)

SNV
Germline

Chr16:23636069

Conflicting classifications of pathogenicity

Familial cancer of breast
Condition: not provided
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA494461950

rs_1163253431

6 SubmittersRCV002159422 RCV002479850 RCV003585196 RCV005361938

NM_000051.4(ATM):c.2466+9G>T

SNV
Germline

Chr11:108259084

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Familial cancer of breast
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2573146523

rs_2135422617

3 SubmittersRCV002143934 RCV004591815 RCV004999665

NM_015662.3(IFT172):c.337-5C>T

SNV
Germline

Chr2:27483942

Conflicting classifications of pathogenicity

Retinitis pigmentosa 71
Short-rib thoracic dysplasia 10 with or without polydactyly
Inborn genetic diseases
IFT172-related disorder
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA1581014

rs_141086523

4 SubmittersRCV002207760 RCV004045675 RCV004553690 RCV005921211

NM_007194.4(CHEK2):c.855C>T (p.Ile285=)

SNV
Germline

Chr22:28703558

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA513945093

rs_756692505

3 SubmittersRCV002147730 RCV004612143

NM_007194.4(CHEK2):c.1006C>T (p.Gln336Ter)

SNV
Germline

Chr22:28699840

Pathogenic/Likely pathogenic

Condition: not provided
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA411099298

rs_2145841361

4 SubmittersRCV002214248 RCV003336505 RCV004047195

NM_024675.4(PALB2):c.58A>T (p.Lys20Ter)

SNV
Germline

Chr16:23638120

Pathogenic/Likely pathogenic

Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA395139930

rs_2142461082

2 SubmittersRCV002223100

NM_000465.4(BARD1):c.1237G>A (p.Ala413Thr)

SNV
Germline

Chr2:214780637

Conflicting classifications of pathogenicity

Condition: not provided
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA350453610

rs_2106107923

3 SubmittersRCV002226109 RCV005095780 RCV005520695

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_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_000400.4(ERCC2):c.1758+1G>A

SNV
Germline

Chr19:45353241

Likely pathogenic

Condition: not provided
Cerebrooculofacioskeletal syndrome 2
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA9513120

rs_760834687

4 SubmittersRCV002226635 RCV003471293 RCV005929958

NM_004360.5(CDH1):c.688-2A>G

SNV
Germline

Chr16:68810195

Pathogenic

Condition: not provided
Gastric cancer
Familial cancer of breast

No Assertion Criteria Provided

CA396458344

rs_2152130983

3 SubmittersRCV002227420 RCV003164320 RCV005929963

NM_000051.4(ATM):c.331+2T>C

SNV
Germline

Chr11:108229325

Likely pathogenic

Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382521845

rs_1555055358

2 SubmittersRCV002240086 RCV004045171

NM_032043.3(BRIP1):c.2576-3T>C

SNV
Germline

Chr17:61686168

Conflicting classifications of pathogenicity

not specified
Fanconi anemia complementation group J
Familial cancer of breast
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA2573154266

rs_2144119000

3 SubmittersRCV002238665 RCV003774688 RCV004793748

NM_000059.4(BRCA2):c.5890A>T (p.Lys1964Ter)

SNV
Germline

Chr13:32340245

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA387787477

rs_1555284445

2 SubmittersRCV002243566 RCV004799647

NM_001382430.1(AKT1):c.968A>G (p.Asp323Gly)

SNV
Germline

Chr14:104773082

Conflicting classifications of pathogenicity

Familial cancer of breast
Proteus syndrome

Criteria Provided
Conflicting Classifications

CA391217416

rs_2140903030

2 SubmittersRCV002248964 RCV005869743

NM_014781.5(RB1CC1):c.1702C>T (p.Arg568Ter)

SNV
Germline

Chr8:52658964

Likely pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA371003808

rs_746206314

1 SubmittersRCV002249150

NM_000051.4(ATM):c.1520T>A (p.Leu507Ter)

SNV
Germline

Chr11:108250985

Pathogenic

Familial cancer of breast
Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA382534275

rs_2135325561

3 SubmittersRCV002249279 RCV003500690 RCV003308078

NM_000051.4(ATM):c.3346C>T (p.Gln1116Ter)

SNV
Germline

Chr11:108279552

Pathogenic

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA382517627

rs_2135644009

3 SubmittersRCV002249280 RCV002325713 RCV003500691

NM_000051.4(ATM):c.7166C>A (p.Ser2389Ter)

SNV
Germline

Chr11:108329097

Pathogenic

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA382559546

rs_1018140779

3 SubmittersRCV002249281 RCV004948662

NM_000051.4(ATM):c.8923G>T (p.Glu2975Ter)

SNV
Germline

Chr11:108365154

Pathogenic

Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382529976

rs_2091208125

2 SubmittersRCV002249283

NM_007294.4(BRCA1):c.-107A>T

SNV
Germline

Chr17:43125358

Pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA2573154000

rs_2154580237

1 SubmittersRCV002249311

NM_000546.6(TP53):c.708C>G (p.Tyr236Ter)

SNV
Germline

Chr17:7674255

Pathogenic

Familial cancer of breast
Hereditary cancer-predisposing syndrome
TP53-related disorder

Criteria Provided
Single Submitter

CA397839237

rs_1597365202

3 SubmittersRCV002246782 RCV003155980 RCV004797639

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.4679G>A (p.Ser1560Asn)

SNV
Germline

Chr13:32339034

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA387782810

rs_2137508985

4 SubmittersRCV002250805 RCV003157108 RCV003234798

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_007294.4(BRCA1):c.2210C>G (p.Thr737Arg)

SNV
Germline

Chr17:43093321

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10597576

rs_2154392997

3 SubmittersRCV002250818 RCV003157109

NM_007294.4(BRCA1):c.1483G>T (p.Glu495Ter)

SNV
Germline

Chr17:43094048

Pathogenic

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Single Submitter

CA10599079

rs_2053932763

2 SubmittersRCV002250819 RCV002391378

NM_007294.4(BRCA1):c.938T>G (p.Leu313Ter)

SNV
Germline

Chr17:43094593

Pathogenic

Familial cancer of breast

No Assertion Criteria Provided

CA10600191

rs_1407786310

1 SubmittersRCV002250821

NM_153704.6(TMEM67):c.224-2A>T

SNV
Germline

Chr8:93755776

Pathogenic/Likely pathogenic

Condition: not provided
Joubert syndrome
Meckel-Gruber syndrome
Cholangiocarcinoma
Uterine corpus endometrial carcinoma
Malignant tumor of esophagus
Lung cancer
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA4807558

rs_768412278

3 SubmittersRCV002254123 RCV003774755 RCV005930085 RCV005930087 RCV005930084 RCV005930086 RCV005930083

NM_024675.4(PALB2):c.2514+7T>G

SNV
Germline

Chr16:23629633

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA2573152206

rs_2142371207

2 SubmittersRCV002256993 RCV006470319

NM_032043.3(BRIP1):c.1403G>A (p.Trp468Ter)

SNV
Germline

Chr17:61793667

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group J
Familial cancer of breast
Familial cancer of breast
Fanconi anemia complementation group J

Criteria Provided
Multiple Submitters
No Conflicts

CA400482188

rs_2145242325

5 SubmittersRCV002257009 RCV003094197 RCV003336511 RCV005635471

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_007194.4(CHEK2):c.846+2T>A

SNV
Germline

Chr22:28710004

Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA411102253

rs_1601777275

3 SubmittersRCV002258752 RCV003095860

NM_000051.4(ATM):c.5763-1056G>A

SNV
Germline

Chr11:108309104

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
ATM-related disorder
ATM-related cancer predisposition
Condition: not provided

Criteria Provided
Conflicting Classifications

CA601723677

rs_1325461375

8 SubmittersRCV002266554 RCV002352965 RCV003607435 RCV004548253 RCV006554649 RCV005639403

NM_000143.4(FH):c.1237-11C>G

SNV
Germline

Chr1:241500601

Likely pathogenic

Hereditary leiomyomatosis and renal cell cancer
Familial cancer of breast

Criteria Provided
Single Submitter

CA2580063464

rs_2147913449

2 SubmittersRCV002266555 RCV005930174

NM_000051.4(ATM):c.8584+1G>C

SNV
Germline

Chr11:108345909

Likely pathogenic

Carcinoma of pancreas
Familial cancer of breast
Malignant tumor of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382518822

rs_876658182

3 SubmittersRCV002267181 RCV004047457 RCV004782910

NM_024675.4(PALB2):c.3351-7C>T

SNV
Germline

Chr16:23603676

Conflicting classifications of pathogenicity

Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA1139532234

rs_2142255767

3 SubmittersRCV002272685

NM_000059.4(BRCA2):c.2563A>G (p.Thr855Ala)

SNV
Germline

Chr13:32336918

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA387772552

rs_1174270999

2 SubmittersRCV002272785 RCV003157115

NM_000059.4(BRCA2):c.9956C>A (p.Ser3319Tyr)

SNV
Germline

Chr13:32398469

Conflicting classifications of pathogenicity

not specified
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA247509281

rs_778694116

3 SubmittersRCV002282961 RCV004572116 RCV006372761

NM_024675.4(PALB2):c.758T>C (p.Leu253Pro)

SNV
Germline

Chr16:23635788

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA395136166

rs_2142435363

2 SubmittersRCV002288318 RCV002391399

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_000059.4(BRCA2):c.362A>T (p.Lys121Ile)

SNV
Germline

Chr13:32325121

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA387756614

rs_2137446416

3 SubmittersRCV003289499 RCV003607439

NM_000051.4(ATM):c.6348-8T>A

SNV
Germline

Chr11:108319946

Conflicting classifications of pathogenicity

Familial cancer of breast
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

CA2580083415

rs_730881292

2 SubmittersRCV002289377 RCV003605782

NM_000465.4(BARD1):c.133G>T (p.Glu45Ter)

SNV
Germline

Chr2:214809437

Pathogenic/Likely pathogenic

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA350464874

rs_1553628365

6 SubmittersRCV002289388 RCV002382507 RCV005370192

NM_000059.4(BRCA2):c.4644A>C (p.Glu1548Asp)

SNV
Germline

Chr13:32338999

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
BRCA2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA387782161

rs_1257318418

3 SubmittersRCV003607440 RCV003157121 RCV004804419

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.7297C>T (p.Gln2433Ter)

SNV
Germline

Chr13:32355150

Likely pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA387740866

rs_2137557757

1 SubmittersRCV002289500

NM_000051.4(ATM):c.895G>T (p.Glu299Ter)

SNV
Germline

Chr11:108245020

Likely pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA382529632

rs_1273332798

1 SubmittersRCV002290050

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_007194.4(CHEK2):c.-6-4T>C

SNV
Germline

Chr22:28734731

Conflicting classifications of pathogenicity

Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA2400256979

rs_2054342764

2 SubmittersRCV002290241

NM_000465.4(BARD1):c.216-1G>C

SNV
Germline

Chr2:214792446

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA350461344

rs_876658905

5 SubmittersRCV002290253 RCV003308102 RCV005865563

NM_000059.4(BRCA2):c.2743A>T (p.Thr915Ser)

SNV
Germline

Chr13:32337098

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA387773626

rs_2137489400

3 SubmittersRCV003157127 RCV003607444

NM_000051.4(ATM):c.6372C>G (p.Tyr2124Ter)

SNV
Germline

Chr11:108319978

Pathogenic

Breast and/or ovarian cancer
Familial cancer of breast
Ataxia-telangiectasia syndrome
ATM-related cancer predisposition

Reviewed By Expert Panel

CA228405673

rs_904589402

4 SubmittersRCV003150557 RCV003156018 RCV003605784 RCV005638625

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_000051.4(ATM):c.8968G>T (p.Glu2990Ter)

SNV
Germline

Chr11:108365199

Pathogenic

Familial cancer of breast

No Assertion Criteria Provided

CA228383717

rs_1800558

1 SubmittersRCV003156033

NM_000465.4(BARD1):c.1900G>T (p.Glu634Ter)

SNV
Germline

Chr2:214745070

Pathogenic

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA350452051

rs_761090896

4 SubmittersRCV003156035 RCV002409638

NM_032043.3(BRIP1):c.3341A>C (p.Gln1114Pro)

SNV
Germline

Chr17:61683705

Conflicting classifications of pathogenicity

Familial cancer of breast
Fanconi anemia complementation group J
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA400478942

rs_1603275193

2 SubmittersRCV002302039 RCV005403200

NM_032043.3(BRIP1):c.3237T>C (p.Ile1079=)

SNV
Germline

Chr17:61683809

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group J
Condition: not provided

Criteria Provided
Conflicting Classifications

CA292267399

rs_587781666

3 SubmittersRCV002445576 RCV005227583 RCV006258793

NM_024675.4(PALB2):c.3380G>A (p.Cys1127Tyr)

SNV
Germline

Chr16:23603640

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA7963345

rs_759944815

2 SubmittersRCV002451830 RCV003607453

NM_007194.4(CHEK2):c.339C>A (p.Tyr113Ter)

SNV
Germline

Chr22:28725348

Pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA411108231

rs_905674348

3 SubmittersRCV002451981 RCV003099452

NM_032043.3(BRIP1):c.3536T>G (p.Val1179Gly)

SNV
Germline

Chr17:61683510

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group J

Criteria Provided
Conflicting Classifications

CA400478366

rs_2144072645

2 SubmittersRCV002459444 RCV003099547

NM_032043.3(BRIP1):c.3202C>T (p.Pro1068Ser)

SNV
Germline

Chr17:61683844

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group J

Criteria Provided
Conflicting Classifications

CA400479331

rs_2061316510

2 SubmittersRCV002322996 RCV005213660

NM_024675.4(PALB2):c.3350+2C>T

SNV
Germline

Chr16:23607862

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA395139174

rs_1555458171

2 SubmittersRCV002320978 RCV004047797

NM_032043.3(BRIP1):c.3528A>G (p.Ile1176Met)

SNV
Germline

Chr17:61683518

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group J

Criteria Provided
Conflicting Classifications

CA400478405

rs_2544554358

2 SubmittersRCV002459371 RCV003775651

NM_000465.4(BARD1):c.352A>C (p.Asn118His)

SNV
Germline

Chr2:214792309

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA2090450

rs_749473441

2 SubmittersRCV002337568 RCV003099544

NM_000051.4(ATM):c.3826C>T (p.Gln1276Ter)

SNV
Germline/somatic

Chr11:108284306

Pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast
Neoplasm

Criteria Provided
Multiple Submitters
No Conflicts

CA382524925

rs_1364609203

4 SubmittersRCV002364020 RCV003500712 RCV004048167 RCV004673668

NM_024675.4(PALB2):c.1157C>T (p.Thr386Ile)

SNV
Germline

Chr16:23635389

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA395133493

rs_876660840

2 SubmittersRCV002355558 RCV003500713

NM_032043.3(BRIP1):c.3293C>T (p.Ala1098Val)

SNV
Germline

Chr17:61683753

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group J

Criteria Provided
Conflicting Classifications

CA400479039

rs_1361161166

2 SubmittersRCV002326172 RCV003099368

NM_032043.3(BRIP1):c.330T>G (p.Tyr110Ter)

SNV
Germline

Chr17:61857107

Pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA400485354

rs_2145827552

2 SubmittersRCV002326308 RCV003336527

NM_024675.4(PALB2):c.3315G>A (p.Val1105=)

SNV
Germline

Chr16:23607899

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA494175510

rs_2142271728

3 SubmittersRCV002454725 RCV003500705

NM_000051.4(ATM):c.3617T>A (p.Leu1206Ter)

SNV
Germline

Chr11:108282750

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast
ATM-related cancer predisposition

Criteria Provided
Multiple Submitters
No Conflicts

CA382522795

rs_1555092317

3 SubmittersRCV002452263 RCV004049257 RCV005356094

NM_024675.4(PALB2):c.3113+1G>C

SNV
Germline

Chr16:23621361

Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA395142751

rs_1597079557

2 SubmittersRCV002326111 RCV003454100

NM_032043.3(BRIP1):c.1141-2A>G

SNV
Germline

Chr17:61799301

Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA8690781

rs_769583916

2 SubmittersRCV002333005 RCV003336529

NM_024675.4(PALB2):c.358A>G (p.Arg120Gly)

SNV
Germline

Chr16:23636188

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA395137623

rs_2142445228

2 SubmittersRCV002339826 RCV005096322

NM_000051.4(ATM):c.3747-1G>T

SNV
Germline

Chr11:108284226

Pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382524167

rs_730881364

3 SubmittersRCV002349264 RCV005096370 RCV003444267

NM_024675.4(PALB2):c.376G>A (p.Glu126Lys)

SNV
Germline

Chr16:23636170

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7963797

rs_577006107

3 SubmittersRCV002363862 RCV003500711 RCV003478969

NM_000465.4(BARD1):c.394T>G (p.Leu132Val)

SNV
Germline

Chr2:214781480

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA350458147

rs_2469514208

2 SubmittersRCV002357615 RCV003607457

NM_032043.3(BRIP1):c.395C>A (p.Thr132Asn)

SNV
Germline

Chr17:61849241

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group J

Criteria Provided
Conflicting Classifications

CA8690936

rs_753965650

2 SubmittersRCV002357659 RCV003094458

NM_000051.4(ATM):c.4159A>T (p.Lys1387Ter)

SNV
Germline

Chr11:108289026

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382530055

rs_2546904292

3 SubmittersRCV002333293 RCV003102530 RCV003464462

NM_000051.4(ATM):c.1201C>T (p.Gln401Ter)

SNV
Germline

Chr11:108249068

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Familial cancer of breast
Ataxia-telangiectasia syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA6264772

rs_772529339

4 SubmittersRCV002349720 RCV004053100 RCV005042812

NM_004360.5(CDH1):c.570C>G (p.Tyr190Ter)

SNV
Germline

Chr16:68808731

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Hereditary diffuse gastric adenocarcinoma
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA396457926

rs_761753486

4 SubmittersRCV002347607 RCV003336557 RCV003475352

NM_000051.4(ATM):c.5982A>G (p.Lys1994=)

SNV
Germline

Chr11:108312474

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA476675557

rs_1209173070

3 SubmittersRCV002356153 RCV003776192 RCV004591929

NM_007194.4(CHEK2):c.630A>G (p.Ser210=)

SNV
Germline

Chr22:28719448

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA513945259

rs_981239453

3 SubmittersRCV002368821 RCV006470917

NM_000051.4(ATM):c.4612-5T>C

SNV
Germline

Chr11:108293308

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA942022200

rs_2082910890

3 SubmittersRCV002342468 RCV003500723 RCV004591903

NM_032043.3(BRIP1):c.1015G>T (p.Glu339Ter)

SNV
Germline

Chr17:61801378

Pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA400484108

rs_2145337853

2 SubmittersRCV002337887 RCV003336547

NM_032043.3(BRIP1):c.507G>C (p.Gln169His)

SNV
Germline

Chr17:61849129

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA400484346

rs_876660937

3 SubmittersRCV002335884 RCV003454162 RCV005227628

NM_000051.4(ATM):c.5283G>A (p.Leu1761=)

SNV
Germline

Chr11:108301753

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA476674811

rs_2546973895

3 SubmittersRCV002344470 RCV003605805 RCV004591911

NM_000051.4(ATM):c.6173C>G (p.Ser2058Ter)

SNV
Germline

Chr11:108316088

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382550693

rs_1555113821

3 SubmittersRCV002353722 RCV003471353

NM_032043.3(BRIP1):c.648G>A (p.Arg216=)

SNV
Germline

Chr17:61808737

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group J

Criteria Provided
Conflicting Classifications

CA8690867

rs_202035881

2 SubmittersRCV002356242 RCV003776270

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_000051.4(ATM):c.4498C>T (p.Gln1500Ter)

SNV
Germline

Chr11:108292680

Pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382533452

rs_1591674064

2 SubmittersRCV002328654 RCV004050805

NM_000051.4(ATM):c.496+334A>G

SNV
Germline

Chr11:108236168

Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA601694525

rs_1227216618

3 SubmittersRCV002342796 RCV003444268 RCV005242228

NM_007194.4(CHEK2):c.548T>A (p.Leu183Ter)

SNV
Germline

Chr22:28725021

Pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA411107195

rs_2053939966

2 SubmittersRCV002349900 RCV003336554

NM_000465.4(BARD1):c.1018A>G (p.Ile340Val)

SNV
Germline

Chr2:214780856

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA350454329

rs_878853994

2 SubmittersRCV002359824 RCV003607470

NM_000051.4(ATM):c.7629+1G>T

SNV
Germline

Chr11:108331558

Likely pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382560878

rs_1565532703

2 SubmittersRCV002396282 RCV005042817

NM_007194.4(CHEK2):c.1260C>A (p.Cys420Ter)

SNV
Germline

Chr22:28695242

Pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA10167685

rs_762205611

3 SubmittersRCV002430454 RCV003336575

NM_000051.4(ATM):c.8850+1G>T

SNV
Germline

Chr11:108354875

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382526130

rs_1555143620

5 SubmittersRCV002373829 RCV005042818 RCV003500754 RCV004056760

NM_000051.4(ATM):c.7515+1G>C

SNV
Germline

Chr11:108330422

Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382560618

rs_1591161831

2 SubmittersRCV002393793 RCV004056352

NM_000051.4(ATM):c.7516-2A>G

SNV
Germline

Chr11:108331442

Likely pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382560627

rs_2136490630

3 SubmittersRCV002393799 RCV003500743 RCV004056354

NM_000059.4(BRCA2):c.7849A>C (p.Arg2617=)

SNV
Germline

Chr13:32362566

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA483260875

rs_587782588

2 SubmittersRCV002412186 RCV005356109

NM_000051.4(ATM):c.8683G>T (p.Glu2895Ter)

SNV
Germline

Chr11:108353777

Pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Ataxia-telangiectasia syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA6266426

rs_769951912

3 SubmittersRCV002449695 RCV003138234 RCV003500752

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_007194.4(CHEK2):c.1272T>A (p.Tyr424Ter)

SNV
Germline

Chr22:28695230

Pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA411096309

rs_1257494163

2 SubmittersRCV002378655 RCV003103560

NM_007194.4(CHEK2):c.1272T>G (p.Tyr424Ter)

SNV
Germline

Chr22:28695230

Pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA411096306

rs_1257494163

3 SubmittersRCV002378685 RCV003336579

NM_024675.4(PALB2):c.1273G>C (p.Val425Leu)

SNV
Germline

Chr16:23635273

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA395132638

rs_576081828

2 SubmittersRCV002378893 RCV005097317

NM_007194.4(CHEK2):c.70A>G (p.Ser24Gly)

SNV
Germline

Chr22:28734652

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA411091704

rs_2146153708

2 SubmittersRCV002367338 RCV006629410

NM_000465.4(BARD1):c.816T>A (p.Phe272Leu)

SNV
Germline

Chr2:214781058

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA350455493

rs_2469507897

2 SubmittersRCV002421483 RCV003500750

NM_032043.3(BRIP1):c.945A>G (p.Gly315=)

SNV
Germline

Chr17:61801448

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group J

Criteria Provided
Conflicting Classifications

CA501151985

rs_2145341765

2 SubmittersRCV002374032 RCV003103587

NM_007194.4(CHEK2):c.668C>G (p.Ser223Ter)

SNV
Germline

Chr22:28719410

Pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA10167925

rs_769193111

3 SubmittersRCV002367063 RCV003336566

NM_024675.4(PALB2):c.703A>G (p.Thr235Ala)

SNV
Germline

Chr16:23635843

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA395136368

rs_2142436855

2 SubmittersRCV002364948 RCV003607481

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_000051.4(ATM):c.7349T>A (p.Leu2450Ter)

SNV
Germline

Chr11:108330255

Pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382559940

rs_2136454370

3 SubmittersRCV002380231 RCV003605821 RCV004055923

NM_000051.4(ATM):c.7630-1G>C

SNV
Germline

Chr11:108331878

Pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382560882

rs_2086285148

2 SubmittersRCV002396319 RCV004056482

NM_000051.4(ATM):c.7683G>T (p.Leu2561=)

SNV
Germline

Chr11:108331932

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

CA476677196

rs_2136519792

3 SubmittersRCV002400498 RCV004592969 RCV006469816

NM_000051.4(ATM):c.8010+2T>G

SNV
Germline

Chr11:108333970

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382561823

rs_1591184927

4 SubmittersRCV002419221 RCV003099817 RCV003316867

NM_000051.4(ATM):c.8424G>A (p.Val2808=)

SNV
Germline

Chr11:108345748

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA476673049

rs_786203870

3 SubmittersRCV002445894 RCV005097234 RCV004592991

NM_024675.4(PALB2):c.934A>T (p.Ser312Cys)

SNV
Germline

Chr16:23635612

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA395135229

rs_1401541483

2 SubmittersRCV002371687 RCV003774174

NM_000051.4(ATM):c.1001C>G (p.Ser334Ter)

SNV
Germline

Chr11:108247063

Pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382531355

rs_2079885893

3 SubmittersRCV002383236 RCV003094922 RCV004057785

NM_032043.3(BRIP1):c.1353A>G (p.Ala451=)

SNV
Germline

Chr17:61793717

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided

Criteria Provided
Conflicting Classifications

CA501151317

rs_2545108426

3 SubmittersRCV002387990 RCV004785658 RCV004999736

NM_000465.4(BARD1):c.158+6G>A

SNV
Germline

Chr2:214809406

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA2580065596

rs_1696451585

2 SubmittersRCV002405789 RCV005097603

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_000465.4(BARD1):c.1677+2T>A

SNV
Germline

Chr2:214752445

Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA350454489

rs_2469377325

2 SubmittersRCV002405950 RCV003336711

NM_032043.3(BRIP1):c.1744C>T (p.Gln582Ter)

SNV
Germline

Chr17:61780890

Pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Familial cancer of breast
Fanconi anemia complementation group J

Criteria Provided
Multiple Submitters
No Conflicts

CA400480345

rs_2145092515

3 SubmittersRCV002401455 RCV003336717 RCV005227735

NM_007194.4(CHEK2):c.98C>G (p.Ser33Ter)

SNV
Germline

Chr22:28734624

Pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA411091510

rs_2054331180

3 SubmittersRCV002387452 RCV003454233

NM_032043.3(BRIP1):c.1344G>A (p.Trp448Ter)

SNV
Germline

Chr17:61793726

Pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA400482346

rs_2145245242

2 SubmittersRCV002387778 RCV003336700

NM_000051.4(ATM):c.1039G>T (p.Glu347Ter)

SNV
Germline

Chr11:108247101

Pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA6264724

rs_529202615

3 SubmittersRCV002397154 RCV004785666

NM_007194.4(CHEK2):c.1564C>T (p.Pro522Ser)

SNV
Germline

Chr22:28687965

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA411091357

rs_2052186545

2 SubmittersRCV002405488 RCV003607519

NM_000465.4(BARD1):c.1568+1G>T

SNV
Germline

Chr2:214767481

Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA350448059

rs_2106076135

3 SubmittersRCV002405563 RCV003336706

NM_024675.4(PALB2):c.1725G>A (p.Trp575Ter)

SNV
Germline

Chr16:23630429

Pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA395128363

rs_2142390682

3 SubmittersRCV002399116 RCV003454280

NM_004360.5(CDH1):c.172G>T (p.Glu58Ter)

SNV
Germline

Chr16:68801678

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Hereditary diffuse gastric adenocarcinoma
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA396457092

rs_1060501234

5 SubmittersRCV002407409 RCV003336713 RCV003464533

NM_000051.4(ATM):c.1736G>A (p.Trp579Ter)

SNV
Germline

Chr11:108251965

Pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382535319

rs_2135342585

3 SubmittersRCV002407456 RCV003138252

NM_000051.4(ATM):c.1027G>T (p.Glu343Ter)

SNV
Germline

Chr11:108247089

Pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382531626

rs_2135268427

2 SubmittersRCV002385761 RCV004058390

NM_032043.3(BRIP1):c.1473+3A>G

SNV
Germline

Chr17:61793594

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group J
Fanconi anemia complementation group J

Criteria Provided
Conflicting Classifications

CA2580094509

rs_2077852092

3 SubmittersRCV002396963 RCV003095207 RCV005055195

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_000051.4(ATM):c.1626G>A (p.Leu542=)

SNV
Germline

Chr11:108251855

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA476672033

rs_2135339192

3 SubmittersRCV002401164 RCV003500770 RCV004593008

NM_032043.3(BRIP1):c.1629-4C>A

SNV
Germline

Chr17:61781009

Conflicting classifications of pathogenicity

Familial cancer of breast
Fanconi anemia complementation group J
Breast and/or ovarian cancer
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA8690694

rs_747704211

4 SubmittersRCV003097031 RCV003492763 RCV002401206

NM_024675.4(PALB2):c.1879G>C (p.Val627Leu)

SNV
Germline

Chr16:23630275

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA395127657

rs_1567218614

2 SubmittersRCV002415264 RCV003774539

NM_000051.4(ATM):c.1894G>T (p.Glu632Ter)

SNV
Germline

Chr11:108252908

Pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA228392550

rs_1041333479

3 SubmittersRCV002408082 RCV003500780 RCV004060218

NM_000465.4(BARD1):c.105C>A (p.Ala35=)

SNV
Germline

Chr2:214809465

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA350465015

rs_1031199399

2 SubmittersRCV002401766 RCV005356119

NM_000465.4(BARD1):c.1864C>T (p.Leu622Phe)

SNV
Germline

Chr2:214745106

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided

Criteria Provided
Conflicting Classifications

CA350452151

rs_1453151719

4 SubmittersRCV002414972 RCV003100895 RCV003491107

NM_000051.4(ATM):c.1066-2A>G

SNV
Germline

Chr11:108248931

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Ataxia-telangiectasia syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA382532305

rs_1555069514

5 SubmittersRCV002415123 RCV003138256 RCV003097317

NM_032043.3(BRIP1):c.1965C>T (p.Pro655=)

SNV
Germline

Chr17:61776533

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group J

Criteria Provided
Conflicting Classifications

CA501150202

rs_2145032993

2 SubmittersRCV002423381 RCV005209585

NM_000465.4(BARD1):c.2074A>G (p.Ile692Val)

SNV
Germline

Chr2:214728936

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA350450669

rs_1574703604

2 SubmittersRCV002422186 RCV003098598

NM_000465.4(BARD1):c.2166C>G (p.Tyr722Ter)

SNV
Germline

Chr2:214728844

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA350450416

rs_2105987094

3 SubmittersRCV002432649 RCV003098684

NM_032043.3(BRIP1):c.2379+4G>A

SNV
Germline

Chr17:61743009

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA292268881

rs_980793349

3 SubmittersRCV002457847 RCV003101773 RCV004790201

NM_024675.4(PALB2):c.2635A>T (p.Arg879Ter)

SNV
Germline

Chr16:23626349

Pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA395122158

rs_1555459994

2 SubmittersRCV002428590 RCV003336742

NM_032043.3(BRIP1):c.1897A>G (p.Ile633Val)

SNV
Germline

Chr17:61780299

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group J

Criteria Provided
Conflicting Classifications

CA8690638

rs_765314472

2 SubmittersRCV002408132 RCV005215898

NM_004360.5(CDH1):c.2047G>A (p.Val683Ile)

SNV
Germline

Chr16:68823509

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA8130189

rs_758872535

2 SubmittersRCV002420023 RCV003340490

NM_007194.4(CHEK2):c.235G>T (p.Glu79Ter)

SNV
Germline

Chr22:28734487

Pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA411090647

rs_2146146556

2 SubmittersRCV002448528 RCV003138266

NM_032043.3(BRIP1):c.1931C>A (p.Ser644Ter)

SNV
Germline

Chr17:61780265

Pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Familial cancer of breast
Fanconi anemia complementation group J

Criteria Provided
Multiple Submitters
No Conflicts

CA400479160

rs_2145074473

3 SubmittersRCV002410925 RCV003336720 RCV005215900

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_032043.3(BRIP1):c.2017C>T (p.Gln673Ter)

SNV
Germline

Chr17:61776481

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA400478321

rs_2145030202

2 SubmittersRCV002417418 RCV003475376

NM_000465.4(BARD1):c.1086T>A (p.Cys362Ter)

SNV
Germline

Chr2:214780788

Pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA350454085

rs_2469503962

2 SubmittersRCV002425868 RCV003336727

NM_000051.4(ATM):c.2230G>T (p.Glu744Ter)

SNV
Germline

Chr11:108256320

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382539184

rs_2135394519

2 SubmittersRCV002420135 RCV005042831

NM_032043.3(BRIP1):c.1092C>A (p.Ile364=)

SNV
Germline

Chr17:61801301

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA501151772

rs_1555607674

2 SubmittersRCV002457577 RCV006559360

NM_032043.3(BRIP1):c.2443C>T (p.Gln815Ter)

SNV
Germline

Chr17:61716000

Pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA400479597

rs_2144381202

3 SubmittersRCV002455371 RCV003101824 RCV003336736

NM_032043.3(BRIP1):c.2575+1G>C

SNV
Germline

Chr17:61693429

Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group J

Criteria Provided
Multiple Submitters
No Conflicts

CA400482299

rs_1567737536

2 SubmittersRCV002426033 RCV003775302

NM_024675.4(PALB2):c.2297C>G (p.Ser766Ter)

SNV
Germline

Chr16:23629857

Pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA395125283

rs_1555460410

2 SubmittersRCV002446269 RCV003098785

NM_000465.4(BARD1):c.2311G>C (p.Glu771Gln)

SNV
Germline

Chr2:214728699

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA64792571

rs_868744803

2 SubmittersRCV002446455 RCV003607542

NM_032043.3(BRIP1):c.2315C>A (p.Ser772Ter)

SNV
Germline

Chr17:61743077

Pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA400482650

rs_2144677625

2 SubmittersRCV002448052 RCV003336734

NM_000051.4(ATM):c.2426C>G (p.Ser809Ter)

SNV
Germline

Chr11:108259035

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Ataxia-telangiectasia syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA382541262

rs_730881348

4 SubmittersRCV002459842 RCV003465757 RCV003605844

NM_032043.3(BRIP1):c.2530C>T (p.Leu844=)

SNV
Germline

Chr17:61693475

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA501144683

rs_2544604439

3 SubmittersRCV002433160 RCV004785716

NM_032043.3(BRIP1):c.2789C>A (p.Ser930Ter)

SNV
Germline

Chr17:61685952

Pathogenic

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group J
Familial cancer of breast
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA400481529

rs_2144111205

3 SubmittersRCV002441381 RCV003102216 RCV003336746

NM_032043.3(BRIP1):c.2905+3A>T

SNV
Germline

Chr17:61685833

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group J

Criteria Provided
Conflicting Classifications

CA400481076

rs_1555573247

2 SubmittersRCV002439744 RCV003775416

NM_032043.3(BRIP1):c.2906-5C>T

SNV
Germline

Chr17:61684145

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group J

Criteria Provided
Conflicting Classifications

CA2580094578

rs_2144094505

2 SubmittersRCV002439759 RCV006559430

NM_032043.3(BRIP1):c.304C>T (p.Gln102Ter)

SNV
Germline

Chr17:61857133

Pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA400485409

rs_2145828435

2 SubmittersRCV002444091 RCV003336755

NM_000249.4(MLH1):c.304G>T (p.Glu102Ter)

SNV
Germline

Chr3:37001051

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Colorectal cancer, hereditary nonpolyposis, type 2
Squamous cell carcinoma of the head and neck
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA352036686

rs_63750453

4 SubmittersRCV002444103 RCV003455515 RCV005931946 RCV005931945

NM_024675.4(PALB2):c.2T>G (p.Met1Arg)

SNV
Germline

Chr16:23641156

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA395141286

rs_756519825

5 SubmittersRCV002435654 RCV003102964 RCV004999767

NM_032043.3(BRIP1):c.2981A>G (p.Asn994Ser)

SNV
Germline

Chr17:61684065

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA400480614

rs_2144092407

2 SubmittersRCV002442219 RCV005227773

NM_000059.4(BRCA2):c.4867C>T (p.Gln1623Ter)

SNV
Germline

Chr13:32339222

Pathogenic/Likely pathogenic

Gastric cancer
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA387783447

rs_2137511115

3 SubmittersRCV003164573 RCV004571167 RCV005522694

NM_000051.4(ATM):c.1899-2A>C

SNV
Germline

Chr11:108253812

Pathogenic/Likely pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Gastric cancer
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382536242

rs_2135365481

4 SubmittersRCV003103157 RCV003289514 RCV003164586 RCV004067538

NM_007194.4(CHEK2):c.1238T>A (p.Leu413Ter)

SNV
Germline

Chr22:28695731

Pathogenic

Familial cancer of breast
Gastric cancer
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA411096607

rs_1248967885

3 SubmittersRCV003103158 RCV003164593 RCV005542746

NM_007194.4(CHEK2):c.847-1G>T

SNV
Germline

Chr22:28703567

Likely pathogenic

Gastric cancer
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA411101391

rs_878854926

4 SubmittersRCV003164595 RCV003103159

NM_000051.4(ATM):c.5674+1G>A

SNV
Germline

Chr11:108304853

Likely pathogenic

Gastric cancer
Familial cancer of breast

Criteria Provided
Single Submitter

CA382546616

rs_1565482453

2 SubmittersRCV003164622 RCV004571168

NM_002354.3(EPCAM):c.1A>G (p.Met1Val)

SNV
Germline

Chr2:47369506

Likely pathogenic

Gastric cancer
EPCAM-related disorder
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA1648796

rs_752808238

3 SubmittersRCV003164691 RCV003403838 RCV004813207

NM_032043.3(BRIP1):c.1585G>T (p.Gly529Ter)

SNV
Germline

Chr17:61784313

Pathogenic

Gastric cancer
Familial cancer of breast
Familial cancer of breast
Fanconi anemia complementation group J

Criteria Provided
Multiple Submitters
No Conflicts

CA400481048

rs_876659321

3 SubmittersRCV003164705 RCV003336760 RCV005227780

NM_000465.4(BARD1):c.1903+1G>C

SNV
Germline

Chr2:214745066

Likely pathogenic

Familial cancer of breast
Gastric cancer

Criteria Provided
Single Submitter

CA350452041

rs_876660237

2 SubmittersRCV003336761 RCV003164718

NM_000051.4(ATM):c.8151+1G>T

SNV
Germline

Chr11:108335110

Likely pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA382562275

rs_1591192583

1 SubmittersRCV002463876

NM_000465.4(BARD1):c.216-1G>T

SNV
Germline

Chr2:214792446

Pathogenic/Likely pathogenic

Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA350461343

rs_876658905

3 SubmittersRCV002467465

NM_000051.4(ATM):c.2007T>A (p.Cys669Ter)

SNV
Germline

Chr11:108253922

Likely pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA382537062

rs_2497314100

1 SubmittersRCV002467467

NM_000051.4(ATM):c.4777-2A>C

SNV
Germline

Chr11:108294925

Pathogenic

Condition: not provided
Familial cancer of breast
Ataxia-telangiectasia syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA382536067

rs_2135833480

3 SubmittersRCV002469826 RCV004067580 RCV005098445

NM_007194.4(CHEK2):c.629C>A (p.Ser210Ter)

SNV
Germline

Chr22:28719449

Pathogenic

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA411105054

rs_767253467

2 SubmittersRCV003050576 RCV003367962

NM_024675.4(PALB2):c.2586+1G>A

SNV
Germline

Chr16:23629203

Pathogenic/Likely pathogenic

Familial cancer of breast
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA395123610

rs_1375713365

3 SubmittersRCV003064332 RCV003321970

NM_004360.5(CDH1):c.2275G>T (p.Gly759Ter)

SNV
Germline

Chr16:68828284

Pathogenic

Hereditary diffuse gastric adenocarcinoma
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA396470032

rs_2152141561

5 SubmittersRCV003041263 RCV003459732 RCV004070148

NM_000051.4(ATM):c.8269-1G>A

SNV
Germline

Chr11:108343221

Pathogenic/Likely pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382516282

rs_1565557607

3 SubmittersRCV003037429 RCV003367961 RCV003336803

NM_024675.4(PALB2):c.3114-239A>T

SNV
Germline

Chr16:23614330

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA2580091263

rs_2506269944

2 SubmittersRCV003075381 RCV004071807

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_001378418.1(TCF20):c.4312C>T (p.Arg1438Cys)

SNV
Germline

Chr22:42210994

Conflicting classifications of pathogenicity

Condition: not provided
Familial cancer of breast
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10266665

rs_771336001

3 SubmittersRCV003087686 RCV005930444 RCV004963420

NM_000051.4(ATM):c.2376+7T>C

SNV
Germline

Chr11:108257613

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Familial cancer of breast
Condition: not provided

Criteria Provided
Conflicting Classifications

CA891842111

rs_2135408560

3 SubmittersRCV003087791 RCV004593153 RCV004999868

NM_020800.3(IFT80):c.1076+1G>A

SNV
Germline

Chr3:160307662

Likely pathogenic

Jeune thoracic dystrophy
Familial cancer of breast

Criteria Provided
Single Submitter

CA2685278

rs_2275152

2 SubmittersRCV002582465 RCV005930526

NM_024675.4(PALB2):c.2587-15T>C

SNV
Germline

Chr16:23626412

Conflicting classifications of pathogenicity

Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA2575946419

rs_2142356956

2 SubmittersRCV003080810

NM_032043.3(BRIP1):c.3320T>C (p.Leu1107Pro)

SNV
Germline

Chr17:61683726

Conflicting classifications of pathogenicity

Fanconi anemia complementation group J
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA400478987

rs_2144080241

2 SubmittersRCV002620180 RCV004070490

NM_024675.4(PALB2):c.2717G>A (p.Trp906Ter)

SNV
Germline

Chr16:23626267

Pathogenic

Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA395121884

rs_2142353580

2 SubmittersRCV002611968

NM_000051.4(ATM):c.8671+1G>A

SNV
Germline

Chr11:108347366

Likely pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382521347

rs_1555139694

3 SubmittersRCV002623901 RCV003358111 RCV004572799

NM_007194.4(CHEK2):c.1009-5T>C

SNV
Germline

Chr22:28696992

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA2580099578

rs_1555914393

3 SubmittersRCV002640702 RCV004949021

NM_005050.4(ABCD4):c.1118+1G>A

SNV
Germline

Chr14:74292286

Likely pathogenic

Cobalamin C disease
Familial cancer of breast

Criteria Provided
Single Submitter

CA7266928

rs_142443294

2 SubmittersRCV002510420 RCV005931998

NM_000465.4(BARD1):c.1321A>G (p.Ile441Val)

SNV
Germline

Chr2:214769306

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2090286

rs_756180801

3 SubmittersRCV003115347 RCV004614402 RCV006259424

NM_000465.4(BARD1):c.1567G>A (p.Val523Ile)

SNV
Germline

Chr2:214767483

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA350448078

rs_2106076147

2 SubmittersRCV003112143 RCV004949033

NM_000465.4(BARD1):c.212G>C (p.Cys71Ser)

SNV
Germline

Chr2:214797064

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA350462133

rs_1064793959

2 SubmittersRCV003112144 RCV003585367

NM_000051.4(ATM):c.1572G>A (p.Trp524Ter)

SNV
Germline

Chr11:108251037

Pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382534384

rs_1060501667

4 SubmittersRCV003112225 RCV003294624 RCV004244624

NM_032043.3(BRIP1):c.1582A>T (p.Lys528Ter)

SNV
Germline

Chr17:61784316

Pathogenic/Likely pathogenic

Fanconi anemia complementation group J
Familial cancer of breast
Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA292283055

rs_748962730

3 SubmittersRCV003117214 RCV003140250 RCV003336815

NM_032043.3(BRIP1):c.2492+2T>C

SNV
Germline

Chr17:61715949

Likely pathogenic

Familial cancer of breast
Fanconi anemia complementation group J
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA400479372

rs_1409603424

3 SubmittersRCV002569765 RCV005403222 RCV005869854

NM_032043.3(BRIP1):c.1471C>T (p.Gln491Ter)

SNV
Germline

Chr17:61793599

Pathogenic/Likely pathogenic

Fanconi anemia complementation group J
Familial cancer of breast
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA400482033

rs_2545105477

3 SubmittersRCV002592967 RCV003336770

NM_032043.3(BRIP1):c.507+16T>C

SNV
Germline

Chr17:61849113

Conflicting classifications of pathogenicity

Familial cancer of breast
Fanconi anemia complementation group J
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA2576345224

rs_2145760739

2 SubmittersRCV002593558 RCV004017942

NM_032043.3(BRIP1):c.939T>A (p.Tyr313Ter)

SNV
Germline

Chr17:61801454

Pathogenic

Fanconi anemia complementation group J
Familial cancer of breast
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA400484283

rs_1436085018

2 SubmittersRCV002610005 RCV003336772

NM_006506.5(RASA2):c.1678A>G (p.Ser560Gly)

SNV
Germline

Chr3:141581103

Conflicting classifications of pathogenicity

Condition: not provided
Clear cell carcinoma of kidney
Familial cancer of breast
not specified

Criteria Provided
Conflicting Classifications

CA2645592

rs_373463558

3 SubmittersRCV002667290 RCV005928362 RCV005928361 RCV005433863

NM_000465.4(BARD1):c.195A>G (p.Gly65=)

SNV
Germline

Chr2:214797081

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA431144700

rs_1574847294

2 SubmittersRCV002721054 RCV004067692

NM_024675.4(PALB2):c.1255T>C (p.Cys419Arg)

SNV
Germline

Chr16:23635291

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA395132854

rs_2142421373

2 SubmittersRCV002717256 RCV004067773

NM_024675.4(PALB2):c.3202-9C>A

SNV
Germline

Chr16:23608021

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA2213428981

rs_757444247

2 SubmittersRCV002736157 RCV005251328

NM_000465.4(BARD1):c.928T>C (p.Ser310Pro)

SNV
Germline

Chr2:214780946

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA350455007

rs_886041139

2 SubmittersRCV002741138 RCV004948760

NM_024675.4(PALB2):c.2529G>C (p.Glu843Asp)

SNV
Germline

Chr16:23629261

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA395123838

rs_2142368926

2 SubmittersRCV002761156 RCV006411726

NM_024675.4(PALB2):c.182A>T (p.Gln61Leu)

SNV
Germline

Chr16:23637879

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
not specified

Criteria Provided
Conflicting Classifications

CA395139076

rs_1354687901

3 SubmittersRCV002785728 RCV004946046 RCV006262529

NM_000051.4(ATM):c.3077+9A>G

SNV
Germline

Chr11:108271415

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA2580083268

rs_2135555296

3 SubmittersRCV002775868 RCV004571252

NM_000465.4(BARD1):c.362C>G (p.Ser121Ter)

SNV
Germline

Chr2:214792299

Pathogenic/Likely pathogenic

Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA350460724

rs_2469560081

3 SubmittersRCV002751565

NM_032043.3(BRIP1):c.118C>T (p.Gln40Ter)

SNV
Germline

Chr17:61859883

Pathogenic/Likely pathogenic

Fanconi anemia complementation group J
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA400485835

rs_2145852357

2 SubmittersRCV002791583 RCV003167794

NM_000051.4(ATM):c.2282C>G (p.Thr761Ser)

SNV
Germline

Chr11:108257512

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA6264991

rs_768430443

4 SubmittersRCV002825311 RCV004593067 RCV005403234

NM_024675.4(PALB2):c.1858G>T (p.Gly620Ter)

SNV
Germline

Chr16:23630296

Pathogenic

Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA395127751

rs_777940379

2 SubmittersRCV002807323

NM_032043.3(BRIP1):c.2389A>T (p.Lys797Ter)

SNV
Germline

Chr17:61716054

Pathogenic

Familial cancer of breast
Fanconi anemia complementation group J

Criteria Provided
Single Submitter

CA400479827

rs_2544698078

1 SubmittersRCV002842295

NM_007194.4(CHEK2):c.793-15T>G

SNV
Germline

Chr22:28710074

Pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA2580099671

rs_1297980569

1 SubmittersRCV002828720

NM_007194.4(CHEK2):c.987C>G (p.Tyr329Ter)

SNV
Germline

Chr22:28699859

Pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA411099491

rs_2145842116

1 SubmittersRCV002856102

NM_024675.4(PALB2):c.2277A>T (p.Gln759His)

SNV
Germline

Chr16:23629877

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA395125368

rs_786202524

2 SubmittersRCV002856618 RCV005455611

NM_007194.4(CHEK2):c.1375+2T>G

SNV
Germline

Chr22:28695125

Likely pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA411095297

rs_1483241325

1 SubmittersRCV002862114

NM_024675.4(PALB2):c.48+8G>C

SNV
Germline

Chr16:23641102

Conflicting classifications of pathogenicity

Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA2580091243

rs_2142480527

2 SubmittersRCV002833664

NM_007194.4(CHEK2):c.445-2A>T

SNV
Germline

Chr22:28725126

Likely pathogenic

Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA411107788

rs_1569158075

2 SubmittersRCV002838635

NM_000051.4(ATM):c.8584+2T>A

SNV
Germline

Chr11:108345910

Pathogenic/Likely pathogenic

Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382518828

rs_730881326

2 SubmittersRCV002851794 RCV004064964

NM_032043.3(BRIP1):c.543C>A (p.His181Gln)

SNV
Germline

Chr17:61847185

Conflicting classifications of pathogenicity

Familial cancer of breast
Fanconi anemia complementation group J
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA400483212

rs_1285947952

2 SubmittersRCV002830014 RCV005535431

NM_000051.4(ATM):c.2839-11T>C

SNV
Germline

Chr11:108271053

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA602132589

rs_1429589119

3 SubmittersRCV002843868 RCV004017949 RCV004593076

NM_032043.3(BRIP1):c.3005G>A (p.Trp1002Ter)

SNV
Germline

Chr17:61684041

Conflicting classifications of pathogenicity

Fanconi anemia complementation group J
Familial cancer of breast
Familial ovarian cancer

Criteria Provided
Conflicting Classifications

CA8690412

rs_753664225

2 SubmittersRCV002851589 RCV005601956

NM_024675.4(PALB2):c.962T>G (p.Leu321Ter)

SNV
Germline

Chr16:23635584

Pathogenic

Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA395134962

rs_2142429833

2 SubmittersRCV002857111

NM_007194.4(CHEK2):c.319G>T (p.Glu107Ter)

SNV
Germline

Chr22:28734403

Pathogenic

Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA411090157

rs_775320614

2 SubmittersRCV002863186

NM_000051.4(ATM):c.6006+1G>T

SNV
Germline

Chr11:108312499

Pathogenic/Likely pathogenic

Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382548821

rs_786202016

2 SubmittersRCV002880892 RCV003138373

NM_024675.4(PALB2):c.715A>T (p.Arg239Ter)

SNV
Germline

Chr16:23635831

Pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA395136320

rs_1967026821

1 SubmittersRCV002872244

NM_032043.3(BRIP1):c.314C>A (p.Ser105Ter)

SNV
Germline

Chr17:61857123

Pathogenic

Familial cancer of breast
Fanconi anemia complementation group J
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA400485389

rs_1555617829

2 SubmittersRCV002876952 RCV006377618

NM_000465.4(BARD1):c.158+1G>A

SNV
Germline

Chr2:214809411

Likely pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA350464685

rs_1553628351

1 SubmittersRCV002852321

NM_032043.3(BRIP1):c.2707C>T (p.Gln903Ter)

SNV
Germline

Chr17:61686034

Pathogenic

Fanconi anemia complementation group J
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA400481697

rs_1603276837

3 SubmittersRCV002852365 RCV003308306 RCV003336777

NM_000051.4(ATM):c.7113T>A (p.Tyr2371Ter)

SNV
Germline

Chr11:108329044

Pathogenic

Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382559424

rs_760534895

2 SubmittersRCV002847201 RCV004571379

NM_032043.3(BRIP1):c.1673G>A (p.Trp558Ter)

SNV
Germline

Chr17:61780961

Pathogenic

Familial cancer of breast
Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA400480498

rs_2145095957

2 SubmittersRCV002876142 RCV005621221

NM_032043.3(BRIP1):c.919-1G>A

SNV
Germline

Chr17:61801475

Likely pathogenic

Familial cancer of breast
Fanconi anemia complementation group J
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA400484335

rs_2145343116

2 SubmittersRCV002866925 RCV005782340

NM_000051.4(ATM):c.2466+2T>C

SNV
Germline

Chr11:108259077

Likely pathogenic

Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382541435

rs_878853495

2 SubmittersRCV002863426 RCV004065001

NM_000465.4(BARD1):c.249T>A (p.Cys83Ter)

SNV
Germline

Chr2:214792412

Pathogenic

Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA350461222

rs_1574839902

2 SubmittersRCV002881006

NM_024675.4(PALB2):c.1536C>G (p.Tyr512Ter)

SNV
Germline

Chr16:23635010

Pathogenic

Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA395130911

rs_1567220802

2 SubmittersRCV002898881

NM_007194.4(CHEK2):c.1542+1G>A

SNV
Germline

Chr22:28689134

Pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA411092289

rs_2145747957

1 SubmittersRCV002867999

NM_000051.4(ATM):c.3173G>A (p.Trp1058Ter)

SNV
Germline/somatic

Chr11:108272741

Pathogenic

Ataxia-telangiectasia syndrome
Familial cancer of breast
Malignant tumor of urinary bladder
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA382515586

rs_1297911790

4 SubmittersRCV002886138 RCV004066007 RCV003332389 RCV005505517

NM_000051.4(ATM):c.491G>A (p.Trp164Ter)

SNV
Germline

Chr11:108235829

Pathogenic

Ataxia-telangiectasia syndrome
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA382525751

rs_2135126288

3 SubmittersRCV002917982 RCV004066153 RCV005505522

NM_000051.4(ATM):c.6573-5T>C

SNV
Germline

Chr11:108325305

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA6265986

rs_765604322

3 SubmittersRCV002894444 RCV003358005 RCV004593090

NM_000051.4(ATM):c.1552G>T (p.Glu518Ter)

SNV
Germline

Chr11:108251017

Pathogenic

Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382534337

rs_2135326709

2 SubmittersRCV002894693 RCV004065950

NM_032043.3(BRIP1):c.806C>G (p.Ser269Ter)

SNV
Germline

Chr17:61808579

Pathogenic/Likely pathogenic

Fanconi anemia complementation group J
Familial cancer of breast
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA400484874

rs_1412610651

3 SubmittersRCV002903845 RCV003336782

NM_000051.4(ATM):c.4236+1G>A

SNV
Germline

Chr11:108289104

Pathogenic/Likely pathogenic

Ataxia-telangiectasia syndrome
Familial cancer of breast
Ataxia-telangiectasia syndrome
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA382530758

rs_876660674

5 SubmittersRCV002872727 RCV004571775 RCV005398997 RCV005403242

NM_032043.3(BRIP1):c.511A>T (p.Arg171Ter)

SNV
Germline

Chr17:61847217

Pathogenic

Familial cancer of breast
Fanconi anemia complementation group J
Hereditary cancer-predisposing syndrome
Familial ovarian cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA400483454

rs_2545407876

3 SubmittersRCV002872779 RCV003382957 RCV004786761

NM_000168.6(GLI3):c.474-3C>T

SNV
Germline

Chr7:42048699

Conflicting classifications of pathogenicity

Greig cephalopolysyndactyly syndrome
Pallister-Hall syndrome
GLI3-related disorder
Polysyndactyly 4
Greig cephalopolysyndactyly syndrome
Polydactyly, postaxial, type A1
Pallister-Hall syndrome
not specified
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA4231167

rs_750653037

5 SubmittersRCV002899680 RCV004536432 RCV005034452 RCV005433897 RCV005928732

NM_007194.4(CHEK2):c.1393A>T (p.Lys465Ter)

SNV
Germline

Chr22:28694100

Pathogenic

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA411094448

rs_2517788289

3 SubmittersRCV002872429 RCV005321255

NM_007194.4(CHEK2):c.1461+2301G>T

SNV
Germline

Chr22:28691731

Pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA323001503

rs_537445902

1 SubmittersRCV002877417

NM_000465.4(BARD1):c.2286G>A (p.Trp762Ter)

SNV
Germline

Chr2:214728724

Pathogenic/Likely pathogenic

Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA350449897

rs_1262069856

2 SubmittersRCV002882017

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_024675.4(PALB2):c.1684+2T>A

SNV
Germline

Chr16:23634860

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA395129858

rs_2142409238

2 SubmittersRCV002913112 RCV003367903

NM_025233.7(COASY):c.1388-2A>G

SNV
Germline

Chr17:42565469

Likely pathogenic

Neurodegeneration with brain iron accumulation 6
COASY-related disorder
Condition: not provided
Pontocerebellar hypoplasia, type 12
Neurodegeneration with brain iron accumulation 6
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA8578322

rs_145108650

5 SubmittersRCV002937500 RCV003395537 RCV004790277 RCV005019463 RCV005926426

NM_024675.4(PALB2):c.1490A>G (p.Asn497Ser)

SNV
Germline

Chr16:23635056

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA395131096

rs_1966962812

2 SubmittersRCV002947546 RCV004067106

NM_007194.4(CHEK2):c.683+2T>G

SNV
Germline

Chr22:28719393

Likely pathogenic

Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA411104813

rs_781021132

2 SubmittersRCV002909590

NM_032043.3(BRIP1):c.2123G>A (p.Trp708Ter)

SNV
Germline

Chr17:61744566

Pathogenic

Familial cancer of breast
Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA400483294

rs_2144700629

2 SubmittersRCV002947425 RCV003336783

NM_000051.4(ATM):c.4490T>G (p.Leu1497Ter)

SNV
Germline

Chr11:108292672

Pathogenic/Likely pathogenic

Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382533355

rs_2082861857

3 SubmittersRCV002947427 RCV003455606

NM_007194.4(CHEK2):c.1499C>G (p.Ser500Cys)

SNV
Germline

Chr22:28689178

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA323000067

rs_28909981

2 SubmittersRCV002982374 RCV004614292

NM_024675.4(PALB2):c.1549A>T (p.Lys517Ter)

SNV
Germline

Chr16:23634997

Pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA395130831

rs_2506473795

1 SubmittersRCV002954240

NM_000051.4(ATM):c.1426C>T (p.Gln476Ter)

SNV
Germline

Chr11:108250891

Pathogenic

Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382534027

rs_2497246164

2 SubmittersRCV002967565 RCV004068328

NM_024675.4(PALB2):c.2578G>T (p.Glu860Ter)

SNV
Germline

Chr16:23629212

Pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Gastric cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA395123667

rs_1966853670

3 SubmittersRCV003367916 RCV002958045 RCV005926547

NM_032043.3(BRIP1):c.2516G>A (p.Trp839Ter)

SNV
Germline

Chr17:61693489

Pathogenic

Fanconi anemia complementation group J
Familial cancer of breast
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA400482456

rs_2144187284

4 SubmittersRCV002994665 RCV003138434 RCV005403260

NM_007194.4(CHEK2):c.847-2A>T

SNV
Germline

Chr22:28703568

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA411101393

rs_1601753141

2 SubmittersRCV004948878 RCV003017860

NM_000465.4(BARD1):c.2244G>C (p.Glu748Asp)

SNV
Germline

Chr2:214728766

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA350450009

rs_1692200499

2 SubmittersRCV002993790 RCV006546211

NM_004360.5(CDH1):c.2183T>A (p.Leu728Ter)

SNV
Germline

Chr16:68828192

Pathogenic

Hereditary diffuse gastric adenocarcinoma
Familial cancer of breast

Criteria Provided
Single Submitter

CA396469341

rs_2152141391

2 SubmittersRCV003016755 RCV005926785

NM_000465.4(BARD1):c.341T>A (p.Leu114Ter)

SNV
Germline

Chr2:214792320

Pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA350460819

rs_2469560396

1 SubmittersRCV002991749

NM_032043.3(BRIP1):c.376C>T (p.Gln126Ter)

SNV
Germline

Chr17:61857061

Pathogenic

Familial cancer of breast
Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA400485268

rs_2145825942

2 SubmittersRCV003022840 RCV003336792

NM_007194.4(CHEK2):c.324T>A (p.Cys108Ter)

SNV
Germline

Chr22:28725363

Pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA411108287

rs_1385799739

1 SubmittersRCV003025973

NM_007194.4(CHEK2):c.1375+1G>T

SNV
Germline

Chr22:28695126

Likely pathogenic

Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA411095313

rs_759706360

2 SubmittersRCV003033453

NM_007194.4(CHEK2):c.1543-2A>G

SNV
Germline

Chr22:28687988

Likely pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA411091540

rs_1160973224

1 SubmittersRCV003014366

NM_024675.4(PALB2):c.3303C>T (p.Leu1101=)

SNV
Germline

Chr16:23607911

Conflicting classifications of pathogenicity

Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA494175553

rs_2506215064

2 SubmittersRCV003032076

NM_032043.3(BRIP1):c.2665C>T (p.Gln889Ter)

SNV
Germline

Chr17:61686076

Pathogenic

Familial cancer of breast
Fanconi anemia complementation group J

Criteria Provided
Single Submitter

CA400481827

rs_2061359296

1 SubmittersRCV003029703

NM_000051.4(ATM):c.6452G>A (p.Arg2151Lys)

SNV
Germline

Chr11:108320058

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA382553678

rs_2136222746

2 SubmittersRCV003032686 RCV004068680

NM_007194.4(CHEK2):c.445-4T>A

SNV
Germline

Chr22:28725128

Conflicting classifications of pathogenicity

Familial cancer of breast
Breast and/or ovarian cancer

Criteria Provided
Conflicting Classifications

CA2580099480

rs_1064795487

2 SubmittersRCV003046268 RCV003492793

NM_032043.3(BRIP1):c.645T>G (p.Ser215=)

SNV
Germline

Chr17:61808740

Conflicting classifications of pathogenicity

Fanconi anemia complementation group J
Familial cancer of breast
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA501335360

rs_2145423071

3 SubmittersRCV003023551 RCV004786794 RCV006377855

NM_024675.4(PALB2):c.2555C>T (p.Pro852Leu)

SNV
Germline

Chr16:23629235

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA395123750

rs_2142368283

2 SubmittersRCV003023810 RCV004654098

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_000465.4(BARD1):c.234C>A (p.Cys78Ter)

SNV
Germline

Chr2:214792427

Pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA350461282

rs_2106135360

1 SubmittersRCV003038126

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_032043.3(BRIP1):c.2596C>T (p.Gln866Ter)

SNV
Germline

Chr17:61686145

Pathogenic/Likely pathogenic

Fanconi anemia complementation group J
Familial cancer of breast
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA400481978

rs_2544574598

3 SubmittersRCV003049543 RCV003336798

NM_007194.4(CHEK2):c.1126G>T (p.Gly376Ter)

SNV
Germline

Chr22:28695843

Pathogenic/Likely pathogenic

Familial cancer of breast
CHEK2-related cancer predisposition

Criteria Provided
Multiple Submitters
No Conflicts

CA411097043

rs_2145806157

3 SubmittersRCV003040196 RCV005356248

NM_032043.3(BRIP1):c.2492+1G>T

SNV
Germline

Chr17:61715950

Likely pathogenic

Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Single Submitter

CA400479374

rs_1567755539

1 SubmittersRCV003033251

NM_024675.4(PALB2):c.3004G>T (p.Glu1002Ter)

SNV
Germline

Chr16:23621471

Pathogenic

Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA395143203

rs_2142328421

2 SubmittersRCV003047180

NM_032043.3(BRIP1):c.2905+2T>A

SNV
Germline

Chr17:61685834

Conflicting classifications of pathogenicity

Fanconi anemia complementation group J
Familial cancer of breast
Condition: not provided
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA400481085

rs_1603276502

3 SubmittersRCV003055843 RCV003493975 RCV005248924

NM_007194.4(CHEK2):c.894T>A (p.Tyr298Ter)

SNV
Germline

Chr22:28703519

Pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA411100996

rs_876659519

1 SubmittersRCV003049811

NM_007194.4(CHEK2):c.1095+1G>C

SNV
Germline

Chr22:28696900

Likely pathogenic

Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA411097409

rs_768172525

2 SubmittersRCV003044865

NM_000465.4(BARD1):c.1568+5G>A

SNV
Germline

Chr2:214767477

Conflicting classifications of pathogenicity

Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA2580065592

rs_2106076108

2 SubmittersRCV003059656

NM_000465.4(BARD1):c.1036G>A (p.Asp346Asn)

SNV
Germline

Chr2:214780838

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA350454239

rs_1694968440

2 SubmittersRCV003066213 RCV006377888

NM_032043.3(BRIP1):c.3533A>G (p.Glu1178Gly)

SNV
Germline

Chr17:61683513

Conflicting classifications of pathogenicity

Fanconi anemia complementation group J
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA400478383

rs_752850661

2 SubmittersRCV003040619 RCV006377880

NM_000051.4(ATM):c.7516-1G>A

SNV
Germline

Chr11:108331443

Likely pathogenic

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA382560628

rs_2136490774

2 SubmittersRCV003140314 RCV003274329

NM_000051.4(ATM):c.331+1G>C

SNV
Germline

Chr11:108229324

Likely pathogenic

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA382521839

rs_1555055356

2 SubmittersRCV003140318 RCV006363396

NM_000051.4(ATM):c.2838+2T>A

SNV
Germline

Chr11:108268611

Likely pathogenic

Familial cancer of breast
Ataxia-telangiectasia syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA382545877

rs_2135527696

2 SubmittersRCV003140363 RCV005099284

NM_000051.4(ATM):c.5672C>A (p.Ser1891Ter)

SNV
Unknown

Chr11:108304850

Pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA382546605

rs_2135946592

1 SubmittersRCV003140364

NM_024675.4(PALB2):c.854C>A (p.Ser285Ter)

SNV
Germline

Chr16:23635692

Pathogenic

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA395135850

rs_180177094

2 SubmittersRCV003140367 RCV006411813

NM_000051.4(ATM):c.4622T>A (p.Leu1541Ter)

SNV
Unknown

Chr11:108293323

Pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA382534583

rs_2135809793

1 SubmittersRCV003140373

NM_000059.4(BRCA2):c.7663A>T (p.Lys2555Ter)

SNV
Unknown

Chr13:32357787

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA387745005

rs_1566242721

2 SubmittersRCV003140380 RCV004572854

NM_024675.4(PALB2):c.27C>T (p.Leu9=)

SNV
Germline

Chr16:23641131

Conflicting classifications of pathogenicity

Pancreatic cancer, susceptibility to, 3
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA494168470

rs_749298208

3 SubmittersRCV003142288 RCV005422268 RCV006411814

NM_001378183.1(PIEZO2):c.4264+1G>A

SNV
Germline

Chr18:10750090

Likely pathogenic

Arthrogryposis, distal, with impaired proprioception and touch
Familial cancer of breast

Criteria Provided
Single Submitter

CA8892458

rs_771300095

2 SubmittersRCV003142397 RCV005927061

NM_032043.3(BRIP1):c.1341-1G>C

SNV
Germline

Chr17:61793730

Likely pathogenic

Fanconi anemia complementation group J
Familial cancer of breast
Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA400482365

rs_2545108710

3 SubmittersRCV003139516 RCV003336822 RCV006561074

NM_000465.4(BARD1):c.2086A>G (p.Thr696Ala)

SNV
Germline

Chr2:214728924

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA350450648

rs_2469270640

2 SubmittersRCV003176965 RCV003779499

NM_000051.4(ATM):c.8837T>G (p.Leu2946Ter)

SNV
Germline

Chr11:108354861

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382526036

rs_2137352720

2 SubmittersRCV003188062 RCV003466035

NM_007194.4(CHEK2):c.908+2T>G

SNV
Germline

Chr22:28703503

Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA411100865

rs_1601752066

2 SubmittersRCV003172164 RCV005101108

NM_000059.4(BRCA2):c.9253A>G (p.Thr3085Ala)

SNV
Germline

Chr13:32380142

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA387758719

rs_397507423

2 SubmittersRCV003187200 RCV004572870

NM_024675.4(PALB2):c.280G>T (p.Glu94Ter)

SNV
Germline

Chr16:23636266

Pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA395138843

rs_45602040

3 SubmittersRCV003182763 RCV003228144 RCV005425115

NM_024675.4(PALB2):c.2514+1G>T

SNV
Germline

Chr16:23629639

Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA395123913

rs_886039729

2 SubmittersRCV003182766 RCV006561174

NM_024675.4(PALB2):c.2038G>T (p.Gly680Ter)

SNV
Germline

Chr16:23630116

Pathogenic/Likely pathogenic

Condition: not provided
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA395126914

rs_1223755856

3 SubmittersRCV003229332 RCV003455782

NM_004360.5(CDH1):c.385C>T (p.Gln129Ter)

SNV
Germline

Chr16:68801891

Pathogenic

Hereditary diffuse gastric adenocarcinoma
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA396457501

rs_2152127078

4 SubmittersRCV003229768 RCV003459810

NM_024675.4(PALB2):c.3457C>G (p.Pro1153Ala)

SNV
Germline

Chr16:23603563

Conflicting classifications of pathogenicity

Condition: not provided
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA395138078

rs_1966399624

3 SubmittersRCV003230139 RCV003607576 RCV004285639

NM_000465.4(BARD1):c.792C>G (p.Gly264=)

SNV
Germline

Chr2:214781082

Conflicting classifications of pathogenicity

not specified
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA431390543

rs_1276619198

2 SubmittersRCV003230913 RCV004786906

NM_032043.3(BRIP1):c.58A>T (p.Lys20Ter)

SNV
Unknown

Chr17:61861482

Likely pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA400485973

rs_2545480384

1 SubmittersRCV003234847

NM_000051.4(ATM):c.4864G>T (p.Glu1622Ter)

SNV
Germline

Chr11:108295014

Pathogenic

Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382537068

rs_2083042425

3 SubmittersRCV003238159 RCV004285666

NM_058216.3(RAD51C):c.619C>T (p.His207Tyr)

SNV
Germline

Chr17:58703243

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA400349383

rs_2143798127

2 SubmittersRCV003296770 RCV003340672

NM_007194.4(CHEK2):c.1376-27C>G

SNV
Germline

Chr22:28694144

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA10167661

rs_780707007

3 SubmittersRCV003310316 RCV004572901

NM_032043.3(BRIP1):c.3170A>G (p.Asn1057Ser)

SNV
Germline

Chr17:61683876

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group J

Criteria Provided
Conflicting Classifications

CA292267466

rs_951001849

2 SubmittersRCV003297010 RCV005216035

NM_024675.4(PALB2):c.2995G>T (p.Gly999Ter)

SNV
Germline

Chr16:23622970

Pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 5

Criteria Provided
Multiple Submitters
No Conflicts

CA395143834

rs_1269970394

4 SubmittersRCV003311306 RCV003455792 RCV005870132

NM_000465.4(BARD1):c.2188C>T (p.Gln730Ter)

SNV
Germline

Chr2:214728822

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA350450312

rs_1559372004

2 SubmittersRCV003301715 RCV003336839

NM_000465.4(BARD1):c.1677+1G>A

SNV
Germline

Chr2:214752446

Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA350454493

rs_1060501310

2 SubmittersRCV003301716 RCV003336840

NM_000465.4(BARD1):c.961A>T (p.Lys321Ter)

SNV
Germline

Chr2:214780913

Pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA350454706

rs_2469506085

2 SubmittersRCV003301726 RCV003336841

NM_000465.4(BARD1):c.1928A>G (p.Lys643Arg)

SNV
Germline

Chr2:214730484

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA350451261

rs_2469277596

2 SubmittersRCV003301731 RCV005102757

NM_007294.4(BRCA1):c.2079C>G (p.Asp693Glu)

SNV
Germline

Chr17:43093452

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA10597844

rs_80356835

2 SubmittersRCV003288434 RCV003607580

NM_007194.4(CHEK2):c.1075G>A (p.Glu359Lys)

SNV
Germline

Chr22:28696921

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA411097548

rs_2052607303

2 SubmittersRCV003293689 RCV003607584

NM_000051.4(ATM):c.6073A>T (p.Lys2025Ter)

SNV
Germline

Chr11:108315889

Pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382550104

rs_1591777144

2 SubmittersRCV003297565 RCV004333614

NM_000051.4(ATM):c.6843C>A (p.Tyr2281Ter)

SNV
Germline

Chr11:108326093

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382556649

rs_1555119797

3 SubmittersRCV003297591 RCV003455796

NM_024675.4(PALB2):c.1560C>A (p.Cys520Ter)

SNV
Germline

Chr16:23634986

Pathogenic

Familial cancer of breast
PALB2-related cancer predisposition

Criteria Provided
Multiple Submitters
No Conflicts

CA395130763

rs_2142412586

2 SubmittersRCV003316918 RCV006249867

NM_000051.4(ATM):c.3928C>T (p.Gln1310Ter)

SNV
Germline

Chr11:108284408

Pathogenic/Likely pathogenic

Familial cancer of breast
Familial cancer of breast
Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA382525858

rs_1190025970

3 SubmittersRCV003316922 RCV004796798 RCV005281373

NM_000465.4(BARD1):c.1343T>A (p.Leu448Ter)

SNV
Unknown

Chr2:214769284

Pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA350450429

rs_1694363292

1 SubmittersRCV003316937

NM_024675.4(PALB2):c.108+2T>G

SNV
Germline

Chr16:23638068

Pathogenic/Likely pathogenic

Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA395139553

rs_2142459705

2 SubmittersRCV003316941

NM_000051.4(ATM):c.3994-2A>T

SNV
Unknown

Chr11:108287598

Likely pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA382527398

rs_587782276

1 SubmittersRCV003316963

NM_032043.3(BRIP1):c.94-1G>A

SNV
Germline

Chr17:61859908

Likely pathogenic

Familial cancer of breast
Familial cancer of breast
Fanconi anemia complementation group J

Criteria Provided
Multiple Submitters
No Conflicts

CA400485886

rs_761653387

2 SubmittersRCV003317005 RCV003777291

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_024675.4(PALB2):c.2835-1G>T

SNV
Germline

Chr16:23623131

Likely pathogenic

Familial cancer of breast

No Assertion Criteria Provided

CA395144549

rs_515726099

1 SubmittersRCV003485910

NM_024675.4(PALB2):c.373C>T (p.Gln125Ter)

SNV
Germline

Chr16:23636173

Pathogenic/Likely pathogenic

Familial cancer of breast
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA395137513

rs_2142444897

4 SubmittersRCV003485911 RCV005870137

NM_032043.3(BRIP1):c.2124G>A (p.Trp708Ter)

SNV
Germline

Chr17:61744565

Pathogenic/Likely pathogenic

Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA400483289

rs_2077034033

2 SubmittersRCV003325256

NM_024675.4(PALB2):c.1543A>T (p.Lys515Ter)

SNV
Germline

Chr16:23635003

Pathogenic

Condition: not provided
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA395130869

rs_1188755325

4 SubmittersRCV003326936 RCV003455801 RCV003585380

NM_024675.4(PALB2):c.1135A>T (p.Lys379Ter)

SNV
Germline

Chr16:23635411

Pathogenic

Condition: not provided
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA395133619

rs_2142424902

2 SubmittersRCV003328908 RCV006472391

NM_000059.4(BRCA2):c.6658G>T (p.Glu2220Ter)

SNV
Unknown

Chr13:32341013

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA387790436

rs_2137529502

2 SubmittersRCV003330199 RCV003475562

NM_000051.4(ATM):c.5129G>A (p.Trp1710Ter)

SNV
Germline/somatic

Chr11:108299837

Pathogenic

Malignant tumor of urinary bladder
Familial cancer of breast
Ataxia-telangiectasia syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA382540907

rs_2135891669

3 SubmittersRCV003332944 RCV004334116 RCV005103956

NM_000051.4(ATM):c.6899G>A (p.Trp2300Ter)

SNV
Germline/somatic

Chr11:108326149

Pathogenic/Likely pathogenic

Malignant tumor of urinary bladder
Familial cancer of breast
Ataxia-telangiectasia syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA382556953

rs_1555119899

3 SubmittersRCV003332945 RCV003466065 RCV005103957

NM_000051.4(ATM):c.5130G>A (p.Trp1710Ter)

SNV
Somatic

Chr11:108299838

Pathogenic/Likely pathogenic

Malignant tumor of urinary bladder
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382540911

rs_780816003

3 SubmittersRCV003332987 RCV004334117

NM_032043.3(BRIP1):c.93+1G>C

SNV
Germline

Chr17:61861446

Likely pathogenic

Familial cancer of breast
Familial cancer of breast
Fanconi anemia complementation group J

Criteria Provided
Multiple Submitters
No Conflicts

CA400485893

rs_587782047

2 SubmittersRCV003336860 RCV006561445

NM_007194.4(CHEK2):c.320-2A>T

SNV
Unknown

Chr22:28725369

Likely pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA411108309

rs_1336652138

1 SubmittersRCV003336871

NM_000465.4(BARD1):c.1677+2T>C

SNV
Unknown

Chr2:214752445

Likely pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA350454484

rs_2469377325

1 SubmittersRCV003336881

NM_032043.3(BRIP1):c.2194A>T (p.Lys732Ter)

SNV
Unknown

Chr17:61744495

Pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA400483033

rs_2544837161

1 SubmittersRCV003336887

NM_024675.4(PALB2):c.991G>T (p.Glu331Ter)

SNV
Germline

Chr16:23635555

Pathogenic

Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA395134714

rs_878855126

2 SubmittersRCV003336888

NM_000465.4(BARD1):c.1736C>A (p.Ser579Ter)

SNV
Unknown

Chr2:214745796

Pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA350453068

rs_2469342920

1 SubmittersRCV003336891

NM_007194.4(CHEK2):c.592+1G>T

SNV
Unknown

Chr22:28724976

Likely pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA411106883

rs_1601822722

1 SubmittersRCV003336901

NM_000465.4(BARD1):c.536C>G (p.Ser179Ter)

SNV
Germline

Chr2:214781338

Pathogenic

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA350457437

rs_2106111914

3 SubmittersRCV003336903 RCV005774597

NM_007194.4(CHEK2):c.499G>C (p.Gly167Arg)

SNV
Germline

Chr22:28725070

Likely pathogenic

Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA411107461

rs_72552322

2 SubmittersRCV003336904

NM_000465.4(BARD1):c.601A>T (p.Arg201Ter)

SNV
Unknown

Chr2:214781273

Pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA350456756

rs_786203051

1 SubmittersRCV003336907

NM_000465.4(BARD1):c.802G>T (p.Glu268Ter)

SNV
Unknown

Chr2:214781072

Pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA350455603

rs_2106110358

1 SubmittersRCV003336914

NM_000465.4(BARD1):c.1904-1G>T

SNV
Germline

Chr2:214730509

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA350451356

rs_2469277929

2 SubmittersRCV003336915 RCV003340677

NM_032043.3(BRIP1):c.2763T>G (p.Tyr921Ter)

SNV
Germline

Chr17:61685978

Pathogenic

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group J

Criteria Provided
Multiple Submitters
No Conflicts

CA400481582

rs_1555573356

3 SubmittersRCV003336923 RCV004334128 RCV005216059

NM_000465.4(BARD1):c.1396-1G>T

SNV
Germline

Chr2:214767655

Likely pathogenic

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA350448963

rs_2106077292

3 SubmittersRCV003336931 RCV005774598

NM_032043.3(BRIP1):c.491T>G (p.Leu164Ter)

SNV
Unknown

Chr17:61849145

Pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA400484378

rs_2545418887

1 SubmittersRCV003336940

NM_000465.4(BARD1):c.2040G>A (p.Trp680Ter)

SNV
Unknown

Chr2:214728970

Pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA350450745

rs_2469271103

1 SubmittersRCV003336951

NM_000465.4(BARD1):c.1531A>T (p.Lys511Ter)

SNV
Unknown

Chr2:214767519

Pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA350448218

rs_2469442863

1 SubmittersRCV003336961

NM_000465.4(BARD1):c.1658C>A (p.Ser553Ter)

SNV
Unknown

Chr2:214752466

Pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA350454615

rs_2469377733

1 SubmittersRCV003336963

NM_007194.4(CHEK2):c.250G>T (p.Glu84Ter)

SNV
Unknown

Chr22:28734472

Pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA411090569

rs_2146146010

1 SubmittersRCV003336964

NM_007194.4(CHEK2):c.891T>A (p.Tyr297Ter)

SNV
Unknown

Chr22:28703522

Pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA411101023

rs_2517885679

1 SubmittersRCV003336966

NM_007194.4(CHEK2):c.636T>A (p.Tyr212Ter)

SNV
Unknown

Chr22:28719442

Pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA411105025

rs_2053693149

1 SubmittersRCV003336976

NM_032043.3(BRIP1):c.2615C>A (p.Ser872Ter)

SNV
Unknown

Chr17:61686126

Pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA400481936

rs_587781964

1 SubmittersRCV003336978

NM_032043.3(BRIP1):c.1159G>T (p.Glu387Ter)

SNV
Germline

Chr17:61799281

Pathogenic

Familial cancer of breast
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA400483794

rs_1555607230

2 SubmittersRCV003336982 RCV004697283

NM_000465.4(BARD1):c.697G>T (p.Glu233Ter)

SNV
Unknown

Chr2:214781177

Pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA350456362

rs_2469509820

1 SubmittersRCV003336985

NM_000465.4(BARD1):c.1396-1G>C

SNV
Germline

Chr2:214767655

Likely pathogenic

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA350448966

rs_2106077292

4 SubmittersRCV003336995 RCV006368155

NM_000051.4(ATM):c.1607+2T>A

SNV
Unknown

Chr11:108251074

Likely pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA382534459

rs_2135328577

1 SubmittersRCV003337000

NM_000465.4(BARD1):c.1396-2A>C

SNV
Germline

Chr2:214767656

Likely pathogenic

Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA350448984

rs_2469444923

2 SubmittersRCV003337006

NM_032043.3(BRIP1):c.2099T>A (p.Leu700Ter)

SNV
Unknown

Chr17:61744590

Pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA400483441

rs_2077034919

1 SubmittersRCV003337012

NM_007194.4(CHEK2):c.835A>T (p.Lys279Ter)

SNV
Germline

Chr22:28710017

Pathogenic

Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA411102319

rs_2517942643

2 SubmittersRCV003337025

NM_032043.3(BRIP1):c.1802C>A (p.Ser601Ter)

SNV
Unknown

Chr17:61780394

Pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA400480219

rs_2145081656

1 SubmittersRCV003337044

NM_032043.3(BRIP1):c.1628+1G>T

SNV
Unknown

Chr17:61784269

Likely pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA400480846

rs_1438975574

1 SubmittersRCV003337069

NM_032043.3(BRIP1):c.205+1G>C

SNV
Unknown

Chr17:61859795

Likely pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA400485640

rs_2145849372

1 SubmittersRCV003337086

NM_032043.3(BRIP1):c.1141-2A>C

SNV
Germline

Chr17:61799301

Likely pathogenic

Familial cancer of breast
Familial cancer of breast
Fanconi anemia complementation group J

Criteria Provided
Multiple Submitters
No Conflicts

CA400483842

rs_769583916

2 SubmittersRCV003337099 RCV003777422

NM_032043.3(BRIP1):c.2379+2T>A

SNV
Unknown

Chr17:61743011

Likely pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA400482516

rs_2144674833

1 SubmittersRCV003337108

NM_032043.3(BRIP1):c.1384G>T (p.Glu462Ter)

SNV
Unknown

Chr17:61793686

Pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA400482231

rs_1603340353

1 SubmittersRCV003337119

NM_000465.4(BARD1):c.364+2T>G

SNV
Unknown

Chr2:214792295

Likely pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA350460705

rs_2469560027

1 SubmittersRCV003337120

NM_032043.3(BRIP1):c.1531G>T (p.Glu511Ter)

SNV
Unknown

Chr17:61784367

Pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA400481285

rs_2545054512

1 SubmittersRCV003337121

NM_007194.4(CHEK2):c.575C>G (p.Ser192Ter)

SNV
Unknown

Chr22:28724994

Pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA411107032

rs_899211928

1 SubmittersRCV003337122

NM_032043.3(BRIP1):c.1850T>A (p.Leu617Ter)

SNV
Unknown

Chr17:61780346

Pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA400480119

rs_1064794095

1 SubmittersRCV003337142

NM_032043.3(BRIP1):c.598G>T (p.Glu200Ter)

SNV
Unknown

Chr17:61847130

Pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA400482918

rs_2078746295

1 SubmittersRCV003337174

NM_032043.3(BRIP1):c.700A>T (p.Lys234Ter)

SNV
Unknown

Chr17:61808685

Pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA400485100

rs_1060501780

1 SubmittersRCV003337185

NM_007194.4(CHEK2):c.1075G>T (p.Glu359Ter)

SNV
Germline

Chr22:28696921

Pathogenic

Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA411097545

rs_2052607303

2 SubmittersRCV003337199

NM_000465.4(BARD1):c.1678-2A>T

SNV
Unknown

Chr2:214745856

Likely pathogenic

Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA350453358

rs_1693089850

2 SubmittersRCV003337206

NM_007194.4(CHEK2):c.904G>T (p.Glu302Ter)

SNV
Germline

Chr22:28703509

Pathogenic

Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA411100923

rs_587782460

2 SubmittersRCV003334487

NM_032043.3(BRIP1):c.568G>T (p.Gly190Ter)

SNV
Unknown

Chr17:61847160

Pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA400483074

rs_2145743494

1 SubmittersRCV003334490

NM_007194.4(CHEK2):c.1018G>T (p.Glu340Ter)

SNV
Germline

Chr22:28696978

Pathogenic

Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA411097812

rs_1601727470

2 SubmittersRCV003334507

NM_032043.3(BRIP1):c.182T>G (p.Leu61Ter)

SNV
Unknown

Chr17:61859819

Pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA400485695

rs_1567876917

1 SubmittersRCV003334515

NM_032043.3(BRIP1):c.1474-1G>C

SNV
Unknown

Chr17:61784425

Likely pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA400481792

rs_1555603638

1 SubmittersRCV003334519

NM_000465.4(BARD1):c.286A>T (p.Lys96Ter)

SNV
Unknown

Chr2:214792375

Pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA350461055

rs_2469561106

1 SubmittersRCV003334520

NM_000465.4(BARD1):c.468T>G (p.Tyr156Ter)

SNV
Unknown

Chr2:214781406

Pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA350457607

rs_1436038663

1 SubmittersRCV003334521

NM_032043.3(BRIP1):c.548T>A (p.Leu183Ter)

SNV
Unknown

Chr17:61847180

Pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA400483179

rs_2545406872

1 SubmittersRCV003334522

NM_032043.3(BRIP1):c.247C>T (p.Gln83Ter)

SNV
Unknown

Chr17:61857190

Pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA8690968

rs_756707967

1 SubmittersRCV003334569

NM_032043.3(BRIP1):c.2656A>T (p.Lys886Ter)

SNV
Unknown

Chr17:61686085

Pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA400481848

rs_2144116207

1 SubmittersRCV003334650

NM_032043.3(BRIP1):c.2257+2T>G

SNV
Unknown

Chr17:61744430

Likely pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA400482794

rs_2144694677

1 SubmittersRCV003334948

NM_007194.4(CHEK2):c.1009-1G>T

SNV
Unknown

Chr22:28696988

Likely pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA411097869

rs_1555914382

1 SubmittersRCV003335551

NM_000465.4(BARD1):c.2002-1G>T

SNV
Unknown

Chr2:214729009

Likely pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA350450832

rs_762601855

1 SubmittersRCV003335556

NM_000465.4(BARD1):c.682G>T (p.Glu228Ter)

SNV
Unknown

Chr2:214781192

Pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA350456435

rs_2106111008

1 SubmittersRCV003335567

NM_007194.4(CHEK2):c.320-1G>A

SNV
Unknown

Chr22:28725368

Likely pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA411108307

rs_864622613

1 SubmittersRCV003335568

NM_007194.4(CHEK2):c.1543-1G>T

SNV
Unknown

Chr22:28687987

Likely pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA411091532

rs_2052190289

1 SubmittersRCV003335582

NM_007194.4(CHEK2):c.592+2T>A

SNV
Germline

Chr22:28724975

Likely pathogenic

Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA411106880

rs_1601822717

2 SubmittersRCV003335585

NM_007194.4(CHEK2):c.1444A>T (p.Arg482Ter)

SNV
Unknown

Chr22:28694049

Pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA411094034

rs_1601715996

1 SubmittersRCV003335586

NM_007194.4(CHEK2):c.1304C>A (p.Ser435Ter)

SNV
Unknown

Chr22:28695198

Pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA411096047

rs_1555913484

1 SubmittersRCV003335587

NM_007194.4(CHEK2):c.1259+2T>A

SNV
Unknown

Chr22:28695708

Likely pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA411096474

rs_1555913631

1 SubmittersRCV003335601

NM_032043.3(BRIP1):c.1900C>T (p.Gln634Ter)

SNV
Unknown

Chr17:61780296

Pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA400479287

rs_2145076139

1 SubmittersRCV003335605

NM_032043.3(BRIP1):c.427C>T (p.Gln143Ter)

SNV
Unknown

Chr17:61849209

Pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA400484520

rs_2545421165

1 SubmittersRCV003335611

NM_032043.3(BRIP1):c.566C>A (p.Ser189Ter)

SNV
Unknown

Chr17:61847162

Pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA400483081

rs_1555615763

1 SubmittersRCV003335631

NM_032043.3(BRIP1):c.1504G>T (p.Glu502Ter)

SNV
Unknown

Chr17:61784394

Pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA400481400

rs_2077671871

1 SubmittersRCV003335634

NM_032043.3(BRIP1):c.2599C>T (p.Gln867Ter)

SNV
Germline

Chr17:61686142

Pathogenic

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA400481971

rs_182028200

2 SubmittersRCV003335645 RCV005537574

NM_000465.4(BARD1):c.1386G>A (p.Trp462Ter)

SNV
Germline

Chr2:214769241

Pathogenic

Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA350450116

rs_2469454035

2 SubmittersRCV003335649

NM_000465.4(BARD1):c.101G>A (p.Trp34Ter)

SNV
Germline

Chr2:214809469

Pathogenic

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA350465031

rs_876659387

2 SubmittersRCV003335654 RCV004949079

NM_032043.3(BRIP1):c.2258-2A>T

SNV
Unknown

Chr17:61743136

Likely pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA400482771

rs_2144680456

1 SubmittersRCV003335665

NM_007194.4(CHEK2):c.865A>T (p.Lys289Ter)

SNV
Germline

Chr22:28703548

Pathogenic/Likely pathogenic

Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA411101227

rs_2517886828

3 SubmittersRCV003335666

NM_032043.3(BRIP1):c.1628+2T>G

SNV
Unknown

Chr17:61784268

Likely pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA400480835

rs_2145134667

1 SubmittersRCV003335667

NM_007194.4(CHEK2):c.444+2T>G

SNV
Germline

Chr22:28725241

Pathogenic/Likely pathogenic

Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA10168004

rs_560596101

2 SubmittersRCV003335671

NM_032043.3(BRIP1):c.469G>T (p.Glu157Ter)

SNV
Unknown

Chr17:61849167

Pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA400484423

rs_2078778379

1 SubmittersRCV003335688

NM_032043.3(BRIP1):c.628-1G>T

SNV
Unknown

Chr17:61808758

Likely pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA400485249

rs_1219435870

1 SubmittersRCV003335692

NM_000465.4(BARD1):c.1476T>G (p.Tyr492Ter)

SNV
Germline

Chr2:214767574

Pathogenic

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA350448454

rs_758190979

2 SubmittersRCV003335693 RCV003358165

NM_007194.4(CHEK2):c.22G>T (p.Glu8Ter)

SNV
Unknown

Chr22:28734700

Pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA411092052

rs_2146156469

1 SubmittersRCV003335694

NM_007194.4(CHEK2):c.1442T>G (p.Leu481Ter)

SNV
Germline

Chr22:28694051

Pathogenic

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA411094087

rs_2145784669

3 SubmittersRCV003335697 RCV003368072

NM_032043.3(BRIP1):c.107T>A (p.Leu36Ter)

SNV
Unknown

Chr17:61859894

Pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA400485861

rs_1060501767

1 SubmittersRCV003335703

NM_000051.4(ATM):c.3994-1G>A

SNV
Germline

Chr11:108287599

Likely pathogenic

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA382527399

rs_1057516238

2 SubmittersRCV003335704 RCV006548523

NM_032043.3(BRIP1):c.2770G>T (p.Glu924Ter)

SNV
Germline

Chr17:61685971

Pathogenic

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Thyroid cancer, nonmedullary, 1

Criteria Provided
Multiple Submitters
No Conflicts

CA400481570

rs_1555573342

3 SubmittersRCV003335705 RCV005323418 RCV005931159

NM_000465.4(BARD1):c.589A>T (p.Lys197Ter)

SNV
Unknown

Chr2:214781285

Pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA350456804

rs_2469511563

1 SubmittersRCV003335714

NM_007194.4(CHEK2):c.792+1G>C

SNV
Germline

Chr22:28711908

Likely pathogenic

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA411103028

rs_1555921011

2 SubmittersRCV003335715 RCV004614424

NM_032043.3(BRIP1):c.502C>T (p.Gln168Ter)

SNV
Unknown

Chr17:61849134

Pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA292278242

rs_748211848

1 SubmittersRCV003335718

NM_032043.3(BRIP1):c.2576-2A>C

SNV
Unknown

Chr17:61686167

Likely pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA400482021

rs_869312763

1 SubmittersRCV003335735

NM_032043.3(BRIP1):c.2258-2A>C

SNV
Unknown

Chr17:61743136

Likely pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA400482773

rs_2144680456

1 SubmittersRCV003335737

NM_007194.4(CHEK2):c.779C>G (p.Ser260Ter)

SNV
Germline

Chr22:28711922

Pathogenic

Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA411103079

rs_1060502710

2 SubmittersRCV003335740

NM_007194.4(CHEK2):c.1327G>T (p.Gly443Ter)

SNV
Germline

Chr22:28695175

Pathogenic

Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA411095848

rs_2052518989

2 SubmittersRCV003335744

NM_000465.4(BARD1):c.1677+1G>T

SNV
Germline

Chr2:214752446

Likely pathogenic

Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA350454491

rs_1060501310

2 SubmittersRCV003335747

NM_000465.4(BARD1):c.150C>A (p.Cys50Ter)

SNV
Unknown

Chr2:214809420

Pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA350464759

rs_2106170807

1 SubmittersRCV003335749

NM_024675.4(PALB2):c.191C>A (p.Ser64Ter)

SNV
Unknown

Chr16:23637870

Pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA395139044

rs_1567223942

1 SubmittersRCV003335750

NM_007194.4(CHEK2):c.1335C>G (p.Tyr445Ter)

SNV
Unknown

Chr22:28695167

Pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA411095767

rs_1601719469

1 SubmittersRCV003335753

NM_000465.4(BARD1):c.529C>T (p.Gln177Ter)

SNV
Germline

Chr2:214781345

Pathogenic

Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA350457454

rs_2469512226

2 SubmittersRCV003335754

NM_007194.4(CHEK2):c.847-2A>C

SNV
Germline

Chr22:28703568

Likely pathogenic

Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA411101397

rs_1601753141

2 SubmittersRCV003335755

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_032043.3(BRIP1):c.1966A>T (p.Lys656Ter)

SNV
Germline

Chr17:61776532

Pathogenic

Familial cancer of breast
Familial cancer of breast
Fanconi anemia complementation group J

Criteria Provided
Multiple Submitters
No Conflicts

CA400478540

rs_1603328913

2 SubmittersRCV003335761 RCV003777427

NM_007194.4(CHEK2):c.241G>T (p.Glu81Ter)

SNV
Unknown

Chr22:28734481

Pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA411090620

rs_1555932335

1 SubmittersRCV003335763

NM_032043.3(BRIP1):c.622C>T (p.Gln208Ter)

SNV
Germline

Chr17:61847106

Pathogenic

Familial cancer of breast
Familial cancer of breast
Fanconi anemia complementation group J
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA400482793

rs_1443511163

3 SubmittersRCV003335769 RCV005216061 RCV005782392

NM_032043.3(BRIP1):c.2258-1G>C

SNV
Germline

Chr17:61743135

Pathogenic/Likely pathogenic

Familial cancer of breast
Familial cancer of breast
Fanconi anemia complementation group J

Criteria Provided
Multiple Submitters
No Conflicts

CA400482770

rs_1064793887

2 SubmittersRCV003335774 RCV003777428

NM_024675.4(PALB2):c.2835-2A>G

SNV
Germline

Chr16:23623132

Likely pathogenic

Fanconi anemia complementation group N
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA395144551

rs_886039613

3 SubmittersRCV003340766 RCV003455803

NM_024675.4(PALB2):c.1740T>G (p.Tyr580Ter)

SNV
Germline

Chr16:23630414

Pathogenic

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA395128296

rs_2142390387

2 SubmittersRCV003455810 RCV003360869

NM_000051.4(ATM):c.1607+162A>G

SNV
Germline

Chr11:108251234

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA1998771116

rs_1591525629

3 SubmittersRCV003350788 RCV003777504 RCV004572951

NM_000051.4(ATM):c.9153A>T (p.Gly3051=)

SNV
Germline

Chr11:108365490

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

CA476745318

rs_1555152080

3 SubmittersRCV003361000 RCV004593272 RCV005061307

NM_001242896.3(DEPDC5):c.3805+1G>T

SNV
Germline

Chr22:31876266

Likely pathogenic

Inborn genetic diseases
Familial cancer of breast

Criteria Provided
Single Submitter

CA411279889

rs_2522513585

2 SubmittersRCV003367458 RCV005932716

NM_000051.4(ATM):c.7564C>T (p.Gln2522Ter)

SNV
Germline

Chr11:108331492

Pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382560736

rs_1591167598

3 SubmittersRCV003377688 RCV005621249

NM_032043.3(BRIP1):c.396C>G (p.Thr132=)

SNV
Germline

Chr17:61849240

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group J
Familial cancer of breast
Condition: not provided

Criteria Provided
Conflicting Classifications

CA501150928

rs_2145766215

4 SubmittersRCV003382352 RCV003778150 RCV006259460

NM_032043.3(BRIP1):c.303C>A (p.Asn101Lys)

SNV
Germline

Chr17:61857134

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA400485412

rs_1425170841

2 SubmittersRCV003382353 RCV003778151

NM_032043.3(BRIP1):c.1389A>G (p.Ser463=)

SNV
Germline

Chr17:61793681

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA501151294

rs_2545107450

3 SubmittersRCV003382362 RCV003477088 RCV005216078

NM_058172.6(ANTXR2):c.697+1G>A

SNV
Germline

Chr4:80035971

Likely pathogenic

ANTXR2-related disorder
Familial cancer of breast

Criteria Provided
Single Submitter

CA2981877

rs_779690230

2 SubmittersRCV003419017 RCV005932793

NM_002510.3(GPNMB):c.701-2A>C

SNV
Germline

Chr7:23260454

Likely pathogenic

GPNMB-related disorder
Familial cancer of breast

Criteria Provided
Single Submitter

CA4187513

rs_371776692

2 SubmittersRCV003412177 RCV005932761

NM_016292.3(TRAP1):c.1165+5G>A

SNV
Germline

Chr16:3672695

Conflicting classifications of pathogenicity

Condition: not provided
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA7868274

rs_373016534

3 SubmittersRCV003417608 RCV005929409

NM_000465.4(BARD1):c.1267A>T (p.Lys423Ter)

SNV
Unknown

Chr2:214780607

Likely pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA350453485

rs_201146688

1 SubmittersRCV003464991

NM_000465.4(BARD1):c.2235T>A (p.Tyr745Ter)

SNV
Unknown

Chr2:214728775

Likely pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA350450060

rs_747122703

1 SubmittersRCV003464997

NM_024649.5(BBS1):c.830+1G>T

SNV
Unknown

Chr11:66521377

Likely pathogenic

Bardet-Biedl syndrome 1
Thyroid cancer, nonmedullary, 1
Lung cancer
Familial cancer of breast

Criteria Provided
Single Submitter

CA6123507

rs_200335137

2 SubmittersRCV003465010 RCV005927729 RCV005927730 RCV005927728

NM_000051.4(ATM):c.680C>A (p.Ser227Ter)

SNV
Unknown

Chr11:108244805

Likely pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA382529021

rs_762998620

1 SubmittersRCV003464902

NM_000051.4(ATM):c.4777G>T (p.Glu1593Ter)

SNV
Unknown

Chr11:108294927

Pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA382536095

rs_2546942074

1 SubmittersRCV003464903

NM_000051.4(ATM):c.3609T>A (p.Tyr1203Ter)

SNV
Unknown

Chr11:108282742

Likely pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA382522745

rs_2546879056

1 SubmittersRCV003466571

NM_000051.4(ATM):c.3937G>T (p.Glu1313Ter)

SNV
Unknown

Chr11:108284417

Pathogenic/Likely pathogenic

Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382525940

rs_3092841

2 SubmittersRCV003466584

NM_000051.4(ATM):c.6130A>T (p.Lys2044Ter)

SNV
Germline

Chr11:108316045

Pathogenic/Likely pathogenic

Familial cancer of breast
Ataxia-telangiectasia syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA382550476

rs_2136128705

3 SubmittersRCV003466589 RCV006473260

NM_000051.4(ATM):c.3077+1G>C

SNV
Germline

Chr11:108271407

Pathogenic/Likely pathogenic

Familial cancer of breast
Ataxia-telangiectasia syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA382547725

rs_192810283

3 SubmittersRCV003464905 RCV005100243

NM_000051.4(ATM):c.3167C>G (p.Ser1056Ter)

SNV
Unknown

Chr11:108272735

Pathogenic/Likely pathogenic

Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382515553

rs_1565428419

2 SubmittersRCV003466609

NM_000051.4(ATM):c.6628C>T (p.Gln2210Ter)

SNV
Germline

Chr11:108325365

Pathogenic/Likely pathogenic

Familial cancer of breast
Ataxia-telangiectasia syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA382554767

rs_2136309423

2 SubmittersRCV003466613 RCV005100244

NM_000051.4(ATM):c.7914G>A (p.Trp2638Ter)

SNV
Unknown

Chr11:108332887

Likely pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA382561503

rs_758843096

1 SubmittersRCV003466635

NM_000051.4(ATM):c.4106C>G (p.Ser1369Ter)

SNV
Unknown

Chr11:108287712

Pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA382528689

rs_1057520640

1 SubmittersRCV003466637

NM_000051.4(ATM):c.6949A>T (p.Lys2317Ter)

SNV
Unknown

Chr11:108326199

Likely pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA382557315

rs_866191653

1 SubmittersRCV003466642

NM_000051.4(ATM):c.121A>T (p.Lys41Ter)

SNV
Unknown

Chr11:108227824

Pathogenic/Likely pathogenic

Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382519888

rs_1060501672

2 SubmittersRCV003466653

NM_000051.4(ATM):c.2066C>G (p.Ser689Ter)

SNV
Unknown

Chr11:108253981

Pathogenic

Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382537508

rs_1591534804

2 SubmittersRCV003466660

NM_000051.4(ATM):c.7889T>G (p.Leu2630Ter)

SNV
Unknown

Chr11:108332862

Pathogenic/Likely pathogenic

Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382561451

rs_1591178998

2 SubmittersRCV003466665

NM_000051.4(ATM):c.7872T>A (p.Cys2624Ter)

SNV
Germline

Chr11:108332845

Likely pathogenic

Familial cancer of breast
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA382561414

rs_2136568493

2 SubmittersRCV003466667 RCV004697298

NM_000051.4(ATM):c.8585-1G>C

SNV
Unknown

Chr11:108347278

Pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA382520252

rs_876660066

1 SubmittersRCV003466668

NM_000051.4(ATM):c.845T>A (p.Leu282Ter)

SNV
Unknown

Chr11:108244970

Likely pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA382529467

rs_2135242595

1 SubmittersRCV003464918

NM_000051.4(ATM):c.7588A>T (p.Lys2530Ter)

SNV
Germline

Chr11:108331516

Pathogenic/Likely pathogenic

Familial cancer of breast
Ataxia-telangiectasia syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA382560787

rs_2086231222

2 SubmittersRCV003464919 RCV003500857

NM_000051.4(ATM):c.7031G>A (p.Trp2344Ter)

SNV
Germline

Chr11:108327700

Pathogenic/Likely pathogenic

Familial cancer of breast
Familial cancer of breast
Ataxia-telangiectasia syndrome
ATM-related cancer predisposition

Criteria Provided
Multiple Submitters
No Conflicts

CA382558841

rs_1479487529

3 SubmittersRCV003464920 RCV005047619 RCV005363121

NM_000051.4(ATM):c.2117C>G (p.Ser706Ter)

SNV
Germline

Chr11:108254032

Pathogenic/Likely pathogenic

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA382537778

rs_779004090

3 SubmittersRCV003464922 RCV004949102

NM_000051.4(ATM):c.7473G>A (p.Trp2491Ter)

SNV
Germline

Chr11:108330379

Pathogenic/Likely pathogenic

Familial cancer of breast
Ataxia-telangiectasia syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA382560448

rs_1555123257

2 SubmittersRCV003464924 RCV003500858

NM_024675.4(PALB2):c.109-2A>T

SNV
Unknown

Chr16:23637954

Likely pathogenic

Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA395139502

rs_730881897

2 SubmittersRCV003450443

NM_024675.4(PALB2):c.49-2A>G

SNV
Germline

Chr16:23638131

Conflicting classifications of pathogenicity

Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA395140049

rs_786203245

2 SubmittersRCV003476607

NM_024675.4(PALB2):c.532G>T (p.Glu178Ter)

SNV
Unknown

Chr16:23636014

Pathogenic/Likely pathogenic

Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA395136941

rs_1597098960

2 SubmittersRCV003450476

NM_024675.4(PALB2):c.2834+2T>A

SNV
Germline

Chr16:23624007

Pathogenic/Likely pathogenic

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA395144747

rs_864622481

4 SubmittersRCV003450451 RCV004364752

NM_024675.4(PALB2):c.1610C>A (p.Ser537Ter)

SNV
Germline

Chr16:23634936

Pathogenic/Likely pathogenic

Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA395130459

rs_142103232

3 SubmittersRCV003452234

NM_000059.4(BRCA2):c.4688G>A (p.Trp1563Ter)

SNV
Unknown

Chr13:32339043

Likely pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA387782849

rs_864622546

1 SubmittersRCV003460273

NM_000059.4(BRCA2):c.9502-1G>C

SNV
Unknown

Chr13:32396897

Likely pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA387762819

rs_1566260055

1 SubmittersRCV003474430

NM_000059.4(BRCA2):c.1910-2A>C

SNV
Unknown

Chr13:32336263

Likely pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA387768190

rs_1228762581

1 SubmittersRCV003474433

NM_000059.4(BRCA2):c.7439T>A (p.Leu2480Ter)

SNV
Germline

Chr13:32356431

Pathogenic/Likely pathogenic

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA387742964

rs_2137561690

2 SubmittersRCV003474438 RCV005310988

NM_000059.4(BRCA2):c.1045A>T (p.Lys349Ter)

SNV
Unknown

Chr13:32332523

Likely pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA387761252

rs_2072403180

1 SubmittersRCV003474441

NM_032043.3(BRIP1):c.1729A>T (p.Lys577Ter)

SNV
Unknown

Chr17:61780905

Likely pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA400480372

rs_1603334464

1 SubmittersRCV003474450

NM_000051.4(ATM):c.7349T>G (p.Leu2450Ter)

SNV
Unknown

Chr11:108330255

Pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA382559942

rs_2136454370

1 SubmittersRCV003455924

NM_000465.4(BARD1):c.437G>A (p.Trp146Ter)

SNV
Unknown

Chr2:214781437

Pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA350457787

rs_1695029110

1 SubmittersRCV003450439

NM_024675.4(PALB2):c.2587-1G>A

SNV
Unknown

Chr16:23626398

Likely pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA395122286

rs_761214886

1 SubmittersRCV003450440

NM_024675.4(PALB2):c.2997-2A>G

SNV
Germline

Chr16:23621480

Conflicting classifications of pathogenicity

Familial cancer of breast
Condition: not provided

Criteria Provided
Conflicting Classifications

CA395143252

rs_1555459421

3 SubmittersRCV003450441 RCV006259465

NM_024675.4(PALB2):c.2748+2T>A

SNV
Unknown

Chr16:23626234

Likely pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA395121812

rs_1060499821

1 SubmittersRCV003450442

NM_024675.4(PALB2):c.109-1G>A

SNV
Germline

Chr16:23637953

Pathogenic/Likely pathogenic

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 5

Criteria Provided
Multiple Submitters
No Conflicts

CA395139500

rs_2142458017

4 SubmittersRCV003450444 RCV005455798 RCV006605399

NM_024675.4(PALB2):c.3350+2C>A

SNV
Germline

Chr16:23607862

Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA395139184

rs_1555458171

2 SubmittersRCV005403315 RCV003450445

NM_024675.4(PALB2):c.3114-2A>G

SNV
Germline

Chr16:23614093

Likely pathogenic

Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA395141527

rs_2142300348

2 SubmittersRCV003450447

NM_024675.4(PALB2):c.3G>T (p.Met1Ile)

SNV
Unknown

Chr16:23641155

Likely pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA395141271

rs_1057517585

1 SubmittersRCV003450448

NM_024675.4(PALB2):c.3201+1G>A

SNV
Germline

Chr16:23614003

Pathogenic/Likely pathogenic

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA395141079

rs_587776423

3 SubmittersRCV003450450 RCV004943042

NM_024675.4(PALB2):c.3113G>C (p.Trp1038Ser)

SNV
Unknown

Chr16:23621362

Likely pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA395142753

rs_180177132

1 SubmittersRCV003450453

NM_024675.4(PALB2):c.1592T>A (p.Leu531Ter)

SNV
Unknown

Chr16:23634954

Pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA279498153

rs_540962715

1 SubmittersRCV003450461

NM_024675.4(PALB2):c.2068C>T (p.Gln690Ter)

SNV
Unknown

Chr16:23630086

Pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA395126666

rs_1555460505

1 SubmittersRCV003450464

NM_024675.4(PALB2):c.3010C>T (p.Gln1004Ter)

SNV
Germline

Chr16:23621465

Pathogenic

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA395143174

rs_2142328321

3 SubmittersRCV003450466 RCV003585399

NM_024675.4(PALB2):c.412G>T (p.Glu138Ter)

SNV
Unknown

Chr16:23636134

Pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA395137362

rs_1967048357

1 SubmittersRCV003450467

NM_024675.4(PALB2):c.313G>T (p.Glu105Ter)

SNV
Unknown

Chr16:23636233

Pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA395138778

rs_1307895700

1 SubmittersRCV003450471

NM_024675.4(PALB2):c.55G>T (p.Glu19Ter)

SNV
Unknown

Chr16:23638123

Pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA395139966

rs_2142461160

1 SubmittersRCV003450472

NM_024675.4(PALB2):c.2444C>G (p.Ser815Ter)

SNV
Unknown

Chr16:23629710

Pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA395124200

rs_879254068

1 SubmittersRCV003450475

NM_024675.4(PALB2):c.2735G>A (p.Trp912Ter)

SNV
Germline

Chr16:23626249

Pathogenic

Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA395121842

rs_2142353165

2 SubmittersRCV003450477

NM_024675.4(PALB2):c.470C>A (p.Ser157Ter)

SNV
Unknown

Chr16:23636076

Pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA395137141

rs_749078410

1 SubmittersRCV003450478

NM_024675.4(PALB2):c.1414C>T (p.Gln472Ter)

SNV
Germline

Chr16:23635132

Pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA395131320

rs_2142416694

2 SubmittersRCV004943043 RCV003450479

NM_024675.4(PALB2):c.3238A>T (p.Lys1080Ter)

SNV
Unknown

Chr16:23607976

Pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA395139942

rs_1966511830

1 SubmittersRCV003450480

NM_024675.4(PALB2):c.1582G>T (p.Glu528Ter)

SNV
Unknown

Chr16:23634964

Pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA395130634

rs_1966955447

1 SubmittersRCV003450487

NM_024675.4(PALB2):c.268G>T (p.Glu90Ter)

SNV
Germline

Chr16:23636278

Pathogenic

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA395138867

rs_2142447291

3 SubmittersRCV003450489 RCV004943044

NM_024675.4(PALB2):c.1892C>G (p.Ser631Ter)

SNV
Unknown

Chr16:23630262

Pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA395127611

rs_2142386665

1 SubmittersRCV003450493

NM_000465.4(BARD1):c.1673C>G (p.Ser558Ter)

SNV
Unknown

Chr2:214752451

Pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA350454518

rs_1416123568

1 SubmittersRCV003450495

NM_024675.4(PALB2):c.964G>T (p.Glu322Ter)

SNV
Unknown

Chr16:23635582

Pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA395134933

rs_1597097656

1 SubmittersRCV003450497

NM_024675.4(PALB2):c.1948G>T (p.Glu650Ter)

SNV
Unknown

Chr16:23630206

Pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA395127403

rs_1597090662

1 SubmittersRCV003450500

NM_024675.4(PALB2):c.33T>A (p.Cys11Ter)

SNV
Unknown

Chr16:23641125

Pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA395141083

rs_2142481060

1 SubmittersRCV003450503

NM_024675.4(PALB2):c.3419G>A (p.Trp1140Ter)

SNV
Germline

Chr16:23603601

Pathogenic/Likely pathogenic

Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 5

Criteria Provided
Multiple Submitters
No Conflicts

CA395138212

rs_1060502809

3 SubmittersRCV003450504 RCV004560172

NM_024675.4(PALB2):c.3139A>T (p.Lys1047Ter)

SNV
Unknown

Chr16:23614066

Pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA395141365

rs_2506266710

1 SubmittersRCV003452231

NM_024675.4(PALB2):c.2297C>A (p.Ser766Ter)

SNV
Unknown

Chr16:23629857

Pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA395125285

rs_1555460410

1 SubmittersRCV003452239

NM_024675.4(PALB2):c.2658T>A (p.Cys886Ter)

SNV
Unknown

Chr16:23626326

Pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA395122097

rs_2142354911

1 SubmittersRCV003452246

NM_024675.4(PALB2):c.3119T>A (p.Leu1040Ter)

SNV
Unknown

Chr16:23614086

Pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA395141477

rs_2142300225

1 SubmittersRCV003452255

NM_024675.4(PALB2):c.1002C>G (p.Tyr334Ter)

SNV
Unknown

Chr16:23635544

Pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA395134614

rs_1967002667

1 SubmittersRCV003452262

NM_024675.4(PALB2):c.3241G>T (p.Glu1081Ter)

SNV
Unknown

Chr16:23607973

Pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA395139906

rs_2142273676

1 SubmittersRCV003452276

NM_024675.4(PALB2):c.2604T>A (p.Cys868Ter)

SNV
Unknown

Chr16:23626380

Pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA395122230

rs_2142356386

1 SubmittersRCV003452279

NM_024675.4(PALB2):c.1111G>T (p.Glu371Ter)

SNV
Unknown

Chr16:23635435

Pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA395133779

rs_1312378621

1 SubmittersRCV003452282

NM_024675.4(PALB2):c.2444C>A (p.Ser815Ter)

SNV
Unknown

Chr16:23629710

Pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA395124202

rs_879254068

1 SubmittersRCV003452284

NM_024675.4(PALB2):c.3119T>G (p.Leu1040Ter)

SNV
Germline

Chr16:23614086

Pathogenic

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA395141471

rs_2142300225

2 SubmittersRCV003452298 RCV005455800

NM_024675.4(PALB2):c.2174C>G (p.Ser725Ter)

SNV
Unknown

Chr16:23629980

Pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA395125643

rs_1567217931

1 SubmittersRCV003452315

NM_024675.4(PALB2):c.3403G>T (p.Gly1135Ter)

SNV
Unknown

Chr16:23603617

Pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA395138242

rs_2142254584

1 SubmittersRCV003452326

NM_024675.4(PALB2):c.2647A>T (p.Lys883Ter)

SNV
Unknown

Chr16:23626337

Pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA395122133

rs_1966842668

1 SubmittersRCV003452331

NM_024675.4(PALB2):c.1841T>A (p.Leu614Ter)

SNV
Unknown

Chr16:23630313

Pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA395127846

rs_1555460628

1 SubmittersRCV003452370

NM_000051.4(ATM):c.1803-1G>C

SNV
Unknown

Chr11:108252816

Likely pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA382535670

rs_2135352415

1 SubmittersRCV003452731

NM_000465.4(BARD1):c.1904-1G>A

SNV
Germline

Chr2:214730509

Pathogenic/Likely pathogenic

Condition: not provided
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA350451355

rs_2469277929

3 SubmittersRCV003477431 RCV003607601 RCV004364823

NM_000465.4(BARD1):c.258T>A (p.Cys86Ter)

SNV
Germline

Chr2:214792403

Pathogenic

Condition: not provided
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA2090458

rs_749378322

2 SubmittersRCV003477432 RCV005356449

NM_000051.4(ATM):c.5320-2A>G

SNV
Unknown

Chr11:108302851

Likely pathogenic

Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382542975

rs_1400417135

2 SubmittersRCV003482207 RCV004364852

NM_032043.3(BRIP1):c.621A>G (p.Pro207=)

SNV
Germline

Chr17:61847107

Conflicting classifications of pathogenicity

not specified
Fanconi anemia complementation group J
Familial cancer of breast
Condition: not provided
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA8690898

rs_771891225

5 SubmittersRCV003494216 RCV003779296 RCV004999948 RCV004786949 RCV006368261

NM_024675.4(PALB2):c.2175A>T (p.Ser725=)

SNV
Germline

Chr16:23629979

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA494461128

rs_2142379081

2 SubmittersRCV003500951 RCV004366462

NM_000051.4(ATM):c.5599C>T (p.Gln1867Ter)

SNV
Germline

Chr11:108304777

Pathogenic

Ataxia-telangiectasia syndrome
Familial cancer of breast
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA382546223

rs_2135944782

3 SubmittersRCV003501146 RCV004366497 RCV004723353

NM_000051.4(ATM):c.6095+2T>A

SNV
Germline

Chr11:108315913

Likely pathogenic

Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382550231

rs_1057516525

2 SubmittersRCV003501056 RCV004366477

NM_024675.4(PALB2):c.3202-13T>C

SNV
Germline

Chr16:23608025

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 5
Pancreatic cancer, susceptibility to, 3
Fanconi anemia complementation group N
not specified

Criteria Provided
Conflicting Classifications

CA2697555733

rs_2142274636

5 SubmittersRCV003500873 RCV003585421 RCV003596262 RCV005230518

NM_000051.4(ATM):c.5674G>T (p.Glu1892Ter)

SNV
Germline

Chr11:108304852

Pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382546614

rs_730881375

3 SubmittersRCV003501162 RCV003585508 RCV004368974

NM_007194.4(CHEK2):c.1096-2A>C

SNV
Germline

Chr22:28695875

Likely pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA411097250

rs_2145807398

1 SubmittersRCV003501354

NM_000051.4(ATM):c.2251-5A>T

SNV
Germline

Chr11:108257476

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA2574970781

rs_2135405497

3 SubmittersRCV003501296 RCV004593322 RCV004673907

NM_024675.4(PALB2):c.442A>T (p.Lys148Ter)

SNV
Germline

Chr16:23636104

Pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA395137253

rs_2142443334

1 SubmittersRCV003501301

NM_024675.4(PALB2):c.307G>C (p.Gly103Arg)

SNV
Germline

Chr16:23636239

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA395138791

rs_2142446440

2 SubmittersRCV003501481 RCV004943084

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_000051.4(ATM):c.3624C>T (p.Asp1208=)

SNV
Germline

Chr11:108282757

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA476673247

rs_2082298022

4 SubmittersRCV003501860 RCV003584166 RCV004593348

NM_000051.4(ATM):c.2135C>A (p.Ser712Ter)

SNV
Germline

Chr11:108256225

Pathogenic/Likely pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382538674

rs_1057516620

5 SubmittersRCV003501711 RCV003584121 RCV004369273

NM_000051.4(ATM):c.2583C>G (p.Tyr861Ter)

SNV
Germline

Chr11:108267287

Pathogenic

Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382543967

rs_886039633

2 SubmittersRCV003500025 RCV005621263

NM_007194.4(CHEK2):c.660C>G (p.Tyr220Ter)

SNV
Germline

Chr22:28719418

Pathogenic

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA411104918

rs_876659987

2 SubmittersRCV003500124 RCV004614473

NM_000465.4(BARD1):c.215+2T>A

SNV
Germline

Chr2:214797059

Likely pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA350462110

rs_1559441760

1 SubmittersRCV003500240

NM_000051.4(ATM):c.8440G>T (p.Glu2814Ter)

SNV
Germline

Chr11:108345764

Pathogenic

Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382517815

rs_2137025722

2 SubmittersRCV003501983 RCV004369370

NM_007194.4(CHEK2):c.287T>G (p.Leu96Ter)

SNV
Germline

Chr22:28734435

Pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA411090344

rs_1569169965

1 SubmittersRCV003500162

NM_007194.4(CHEK2):c.987C>A (p.Tyr329Ter)

SNV
Germline

Chr22:28699859

Pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA411099496

rs_2145842116

1 SubmittersRCV003500988

NM_000465.4(BARD1):c.1736C>G (p.Ser579Ter)

SNV
Germline

Chr2:214745796

Pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA350453065

rs_2469342920

1 SubmittersRCV003500298

NM_000465.4(BARD1):c.1678-1G>A

SNV
Germline

Chr2:214745855

Pathogenic/Likely pathogenic

Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA350453356

rs_767208318

2 SubmittersRCV003500309

NM_024675.4(PALB2):c.48+4C>A

SNV
Germline

Chr16:23641106

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA2697555740

rs_876659843

3 SubmittersRCV003500287 RCV005387207

NM_007194.4(CHEK2):c.1009-1264C>G

SNV
Germline

Chr22:28698251

Pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA2697552613

rs_2517834195

1 SubmittersRCV003500275

NM_000465.4(BARD1):c.1396-13A>G

SNV
Germline

Chr2:214767667

Pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA2697550334

rs_2469445068

1 SubmittersRCV003501000

NM_024675.4(PALB2):c.2169G>A (p.Met723Ile)

SNV
Germline

Chr16:23629985

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA395125658

rs_2142379245

3 SubmittersRCV003585693 RCV006478734

NM_000051.4(ATM):c.2377-10T>C

SNV
Germline

Chr11:108258976

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA2697552049

rs_2497416091

2 SubmittersRCV004593372 RCV003585799

NM_000051.4(ATM):c.5441T>A (p.Leu1814Ter)

SNV
Germline

Chr11:108302974

Pathogenic

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA382544137

rs_2083505270

2 SubmittersRCV004371482 RCV003585874

NM_000051.4(ATM):c.6322C>T (p.Gln2108Ter)

SNV
Germline

Chr11:108317496

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA382552218

rs_1591790165

5 SubmittersRCV003585885 RCV003605880 RCV006262848 RCV004371484

NM_000051.4(ATM):c.6519T>C (p.Leu2173=)

SNV
Germline

Chr11:108321367

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA476676197

rs_2136240892

3 SubmittersRCV003585889 RCV005100405 RCV004593374

NM_000051.4(ATM):c.8808A>G (p.Glu2936=)

SNV
Germline

Chr11:108354832

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA476674084

rs_2137348568

2 SubmittersRCV003585923 RCV004593376

NM_032043.3(BRIP1):c.3730A>G (p.Met1244Val)

SNV
Germline

Chr17:61683316

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA400477732

rs_761468878

3 SubmittersRCV003585035 RCV006562598

NM_032043.3(BRIP1):c.2157G>A (p.Leu719=)

SNV
Germline

Chr17:61744532

Conflicting classifications of pathogenicity

Familial cancer of breast
Fanconi anemia complementation group J
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA501151350

rs_2144699040

2 SubmittersRCV003779349 RCV003585052

NM_007194.4(CHEK2):c.320-3C>T

SNV
Germline

Chr22:28725370

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA2697552660

rs_863224749

3 SubmittersRCV003585124 RCV003607603

NM_007194.4(CHEK2):c.319+2T>C

SNV
Germline

Chr22:28734401

Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA322998542

rs_587782401

2 SubmittersRCV003585125 RCV003779356

NM_007194.4(CHEK2):c.-6-6T>C

SNV
Germline

Chr22:28734733

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA2697552652

rs_2146157952

2 SubmittersRCV003585130 RCV005249570

NM_024675.4(PALB2):c.1615G>A (p.Val539Ile)

SNV
Germline

Chr16:23634931

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA395130420

rs_2142411065

2 SubmittersRCV003607625 RCV005468001

NM_000465.4(BARD1):c.1396-10A>G

SNV
Germline

Chr2:214767664

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA2739279059

rs_1553619373

2 SubmittersRCV003607622 RCV004371506

NM_000051.4(ATM):c.5763-1G>C

SNV
Germline

Chr11:108310159

Pathogenic

Ataxia-telangiectasia syndrome
Familial cancer of breast
Ataxia-telangiectasia syndrome
ATM-related cancer predisposition

Reviewed By Expert Panel

CA382548273

rs_2136011029

3 SubmittersRCV003605912 RCV005063074 RCV005871232

NM_000051.4(ATM):c.8584+15C>G

SNV
Germline

Chr11:108345923

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Familial cancer of breast
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

CA2615861845

rs_2137040413

2 SubmittersRCV003605978 RCV005051351

NM_000465.4(BARD1):c.1678-9T>G

SNV
Germline

Chr2:214745863

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA764568211

rs_1211334325

2 SubmittersRCV003607758 RCV004950511

NM_007194.4(CHEK2):c.1260C>T (p.Cys420=)

SNV
Germline

Chr22:28695242

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
not specified

Criteria Provided
Conflicting Classifications

CA513944850

rs_762205611

3 SubmittersRCV003607688 RCV005545055 RCV004527000

NM_024675.4(PALB2):c.2557G>C (p.Gly853Arg)

SNV
Germline

Chr16:23629233

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA395123748

rs_587782579

2 SubmittersRCV003607713 RCV006411889

NM_032888.4(COL27A1):c.2124+2T>C

SNV
Germline

Chr9:114196014

Likely pathogenic

Condition: not provided
Familial cancer of breast

Criteria Provided
Single Submitter

CA5201617

rs_760476125

2 SubmittersRCV003670370 RCV005931609

NM_024675.4(PALB2):c.927A>G (p.Ile309Met)

SNV
Germline

Chr16:23635619

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA395135283

rs_1326253995

2 SubmittersRCV003607879 RCV005387224

NM_007194.4(CHEK2):c.647T>G (p.Leu216Ter)

SNV
Germline

Chr22:28719431

Pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA411104980

rs_2146005892

1 SubmittersRCV003607819

NM_005732.4(RAD50):c.129+2T>C

SNV
Germline

Chr5:132557455

Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA360952047

rs_748086984

2 SubmittersRCV003747003 RCV004556876

NM_024675.4(PALB2):c.2400T>A (p.Cys800Ter)

SNV
Germline

Chr16:23629754

Pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA395124462

rs_2142373865

1 SubmittersRCV003607843

NM_024675.4(PALB2):c.50T>A (p.Leu17Ter)

SNV
Germline

Chr16:23638128

Pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA395140025

rs_1567224232

1 SubmittersRCV003607890

NM_000465.4(BARD1):c.1396-14A>G

SNV
Germline

Chr2:214767668

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA2739279061

rs_2469445078

2 SubmittersRCV003607960 RCV004950532

NM_007194.4(CHEK2):c.1367C>A (p.Ser456Ter)

SNV
Germline

Chr22:28695135

Pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA411095401

rs_876659827

1 SubmittersRCV003607964

NM_000465.4(BARD1):c.541G>T (p.Glu181Ter)

SNV
Germline

Chr2:214781333

Pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA350457425

rs_1695019560

1 SubmittersRCV003608181

NM_000709.4(BCKDHA):c.375+2T>G

SNV
Germline

Chr19:41411011

Likely pathogenic

Maple syrup urine disease
Familial cancer of breast
Thyroid cancer, nonmedullary, 1

Criteria Provided
Single Submitter

CA9461098

rs_756052603

2 SubmittersRCV003637812 RCV005934651 RCV005934652

NM_007194.4(CHEK2):c.14C>A (p.Ser5Ter)

SNV
Germline

Chr22:28734708

Pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA411092104

rs_201084748

1 SubmittersRCV003608106

NM_007194.4(CHEK2):c.1009-5T>G

SNV
Germline

Chr22:28696992

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Malignant tumor of esophagus

Criteria Provided
Conflicting Classifications

CA2739265705

rs_1555914393

3 SubmittersRCV003608116 RCV004950553 RCV005934641

NM_000051.4(ATM):c.4749C>A (p.Tyr1583Ter)

SNV
Germline

Chr11:108293450

Pathogenic

Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382535105

rs_1555100597

2 SubmittersRCV003606521 RCV004371757

NM_024675.4(PALB2):c.3252G>T (p.Ser1084=)

SNV
Germline

Chr16:23607962

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA494175748

rs_141570833

2 SubmittersRCV003608266 RCV005403344

NM_000465.4(BARD1):c.365-2A>T

SNV
Germline

Chr2:214781511

Likely pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA350458457

rs_2469514913

1 SubmittersRCV003608308

NM_024675.4(PALB2):c.3438G>T (p.Gln1146His)

SNV
Germline

Chr16:23603582

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA7963337

rs_771827859

2 SubmittersRCV003608270 RCV005692625

NM_000051.4(ATM):c.1899-8T>C

SNV
Germline

Chr11:108253806

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA6264909

rs_529035779

2 SubmittersRCV003605401 RCV004593422

NM_000051.4(ATM):c.5006-5T>C

SNV
Germline

Chr11:108299709

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA2580610715

rs_1555104475

3 SubmittersRCV003605465 RCV004593427 RCV005734598

NM_000051.4(ATM):c.3617T>G (p.Leu1206Ter)

SNV
Germline

Chr11:108282750

Pathogenic

Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382522804

rs_1555092317

2 SubmittersRCV003605525 RCV004371904

NM_007194.4(CHEK2):c.1369G>T (p.Glu457Ter)

SNV
Germline

Chr22:28695133

Pathogenic

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA411095387

rs_2145792764

3 SubmittersRCV003608362 RCV004950578

NM_024675.4(PALB2):c.2582T>G (p.Leu861Ter)

SNV
Germline

Chr16:23629208

Pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA395123639

rs_2142367705

1 SubmittersRCV003608365

NM_024675.4(PALB2):c.2992G>T (p.Gly998Ter)

SNV
Germline

Chr16:23622973

Pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA395143840

rs_1039184417

1 SubmittersRCV003608380

NM_000051.4(ATM):c.6742A>T (p.Lys2248Ter)

SNV
Germline

Chr11:108325479

Pathogenic

Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382555192

rs_1555119232

2 SubmittersRCV003605446 RCV004371874

NM_000051.4(ATM):c.1991C>T (p.Thr664Ile)

SNV
Germline

Chr11:108253906

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA382536969

rs_1231343218

3 SubmittersRCV003605544 RCV004776458 RCV004950586

NM_007194.4(CHEK2):c.721A>T (p.Lys241Ter)

SNV
Germline

Chr22:28711980

Pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA411103349

rs_1555921240

1 SubmittersRCV003608391

NM_000051.4(ATM):c.8418+681A>G

SNV
Germline

Chr11:108344052

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Familial cancer of breast
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA228365486

rs_748635985

3 SubmittersRCV003606654 RCV004573251 RCV005392670

NM_000051.4(ATM):c.6889C>T (p.Gln2297Ter)

SNV
Germline

Chr11:108326139

Pathogenic

Ataxia-telangiectasia syndrome
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382556871

rs_1565520537

4 SubmittersRCV003606644 RCV004373956 RCV005505730 RCV005063132

NM_000051.4(ATM):c.2125-14T>C

SNV
Germline

Chr11:108256201

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA2739270944

rs_2497354726

4 SubmittersRCV003606686 RCV004593433 RCV005251370

NM_000465.4(BARD1):c.1121G>A (p.Gly374Asp)

SNV
Germline

Chr2:214780753

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA350454016

rs_2106108582

2 SubmittersRCV003608610 RCV004605021

NM_007194.4(CHEK2):c.593-2A>T

SNV
Germline

Chr22:28719487

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
CHEK2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA411105163

rs_2146007633

3 SubmittersRCV003607140 RCV005806834 RCV006455748

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_032043.3(BRIP1):c.2995A>T (p.Arg999Ter)

SNV
Germline

Chr17:61684051

Likely pathogenic

Familial cancer of breast
Fanconi anemia complementation group J

Criteria Provided
Single Submitter

CA400480034

rs_2061323811

1 SubmittersRCV003784649

NM_032043.3(BRIP1):c.1795-1G>C

SNV
Germline

Chr17:61780402

Likely pathogenic

Fanconi anemia complementation group J
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA400480236

rs_1368457771

2 SubmittersRCV003782596 RCV005402086

NM_032043.3(BRIP1):c.544A>C (p.Asn182His)

SNV
Germline

Chr17:61847184

Conflicting classifications of pathogenicity

Familial cancer of breast
Fanconi anemia complementation group J
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA400483207

rs_2145744160

2 SubmittersRCV003792914 RCV005537685

NM_032043.3(BRIP1):c.1935+1G>A

SNV
Germline

Chr17:61780260

Likely pathogenic

Familial cancer of breast
Fanconi anemia complementation group J

Criteria Provided
Single Submitter

CA8690634

rs_761015335

1 SubmittersRCV003790472

NM_032043.3(BRIP1):c.505C>T (p.Gln169Ter)

SNV
Germline

Chr17:61849131

Pathogenic

Familial cancer of breast
Fanconi anemia complementation group J

Criteria Provided
Single Submitter

CA400484350

rs_2145761347

1 SubmittersRCV003794202

NM_032043.3(BRIP1):c.1474G>T (p.Gly492Ter)

SNV
Germline

Chr17:61784424

Pathogenic

Familial cancer of breast
Fanconi anemia complementation group J

Criteria Provided
Single Submitter

CA400481785

rs_2145142389

1 SubmittersRCV003800121

NM_032043.3(BRIP1):c.507+2T>A

SNV
Germline

Chr17:61849127

Likely pathogenic

Familial cancer of breast
Fanconi anemia complementation group J

Criteria Provided
Single Submitter

CA400484340

rs_2145761225

1 SubmittersRCV003801073

NM_032043.3(BRIP1):c.1404G>A (p.Trp468Ter)

SNV
Germline

Chr17:61793666

Pathogenic

Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Single Submitter

CA400482184

rs_2145242241

1 SubmittersRCV003807024

NM_032043.3(BRIP1):c.2102T>A (p.Leu701Ter)

SNV
Germline

Chr17:61744587

Pathogenic

Familial cancer of breast
Fanconi anemia complementation group J

Criteria Provided
Single Submitter

CA400483424

rs_876658270

1 SubmittersRCV003812333

NM_032043.3(BRIP1):c.1794+2T>G

SNV
Germline

Chr17:61780838

Likely pathogenic

Familial cancer of breast
Fanconi anemia complementation group J

Criteria Provided
Single Submitter

CA400480240

rs_2545026298

1 SubmittersRCV003810190

NM_032043.3(BRIP1):c.1341-2A>C

SNV
Germline

Chr17:61793731

Likely pathogenic

Familial cancer of breast
Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA400482372

rs_2145245448

2 SubmittersRCV003810370 RCV004588507

NM_007194.4(CHEK2):c.593-2A>C

SNV
Germline

Chr22:28719487

Likely pathogenic

Familial cancer of breast
CHEK2-related cancer predisposition
Bone osteosarcoma
Familial prostate cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA411105162

rs_2146007633

2 SubmittersRCV003843072 RCV005038565

NM_007194.4(CHEK2):c.846+2T>G

SNV
Germline

Chr22:28710004

Likely pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA411102250

rs_1601777275

1 SubmittersRCV003869228

NM_020843.4(SCAPER):c.1866+8A>G

SNV
Germline

Chr15:76753800

Conflicting classifications of pathogenicity

SCAPER-related disorder
Retinal dystrophy
Ovarian serous cystadenocarcinoma
Acute myeloid leukemia
Lung cancer
Cervical cancer
Familial cancer of breast
Gastric cancer

No Assertion Criteria Provided

CA7674857

rs_139187840

3 SubmittersRCV003919786 RCV004818439 RCV005938667 RCV005938664 RCV005938668 RCV005938665 RCV005938663 RCV005938666

NM_000368.5(TSC1):c.2626-2A>T

SNV
Germline

Chr9:132897612

Pathogenic

Tuberous sclerosis syndrome
Cholangiocarcinoma
Uterine corpus endometrial carcinoma
Familial cancer of breast

Criteria Provided
Single Submitter

CA375369736

rs_118203717

2 SubmittersRCV004018339 RCV005937414 RCV005937415 RCV005937413

NM_000051.4(ATM):c.8630T>A (p.Leu2877Ter)

SNV
Unknown

Chr11:108347324

Pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA382520840

rs_2137082237

1 SubmittersRCV004437819

NM_000051.4(ATM):c.9171A>G (p.Ter3057Trp)

SNV
Unknown

Chr11:108365508

Likely pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA382532220

rs_2091262986

1 SubmittersRCV004437822

NM_000051.4(ATM):c.3746+2T>A

SNV
Germline

Chr11:108282881

Likely pathogenic

Familial cancer of breast
Ataxia-telangiectasia syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA382523926

rs_2135691302

2 SubmittersRCV004437838 RCV005104627

NM_000051.4(ATM):c.1252C>T (p.Gln418Ter)

SNV
Unknown

Chr11:108250717

Pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA382533233

rs_2135316180

1 SubmittersRCV004437850

NM_000051.4(ATM):c.6572+1G>C

SNV
Unknown

Chr11:108321421

Likely pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA382554456

rs_587779856

1 SubmittersRCV004439925

NM_000051.4(ATM):c.3746+2T>G

SNV
Germline

Chr11:108282881

Likely pathogenic

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA382523929

rs_2135691302

2 SubmittersRCV004439931 RCV004950785

NM_000051.4(ATM):c.4961T>G (p.Leu1654Ter)

SNV
Unknown

Chr11:108297338

Pathogenic/Likely pathogenic

Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382538337

rs_587781679

2 SubmittersRCV004439936

NM_000051.4(ATM):c.4004T>G (p.Leu1335Ter)

SNV
Unknown

Chr11:108287610

Pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA382527487

rs_2082558148

1 SubmittersRCV004439938

NM_000051.4(ATM):c.4214T>G (p.Leu1405Ter)

SNV
Unknown

Chr11:108289081

Pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA382530510

rs_2135753345

1 SubmittersRCV004439939

NM_000051.4(ATM):c.4463T>G (p.Leu1488Ter)

SNV
Germline

Chr11:108292645

Pathogenic

Familial cancer of breast
Ataxia-telangiectasia syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA382533084

rs_2135797993

2 SubmittersRCV004439941 RCV005104628

NM_000051.4(ATM):c.5918+2T>G

SNV
Unknown

Chr11:108310317

Likely pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA382548619

rs_2547030807

1 SubmittersRCV004439942

NM_000051.4(ATM):c.6147T>G (p.Tyr2049Ter)

SNV
Unknown

Chr11:108316062

Pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA382550559

rs_369940136

1 SubmittersRCV004439946

NM_000051.4(ATM):c.3799G>T (p.Glu1267Ter)

SNV
Unknown

Chr11:108284279

Pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA382524683

rs_2135705450

1 SubmittersRCV004439950

NM_000051.4(ATM):c.7410T>G (p.Tyr2470Ter)

SNV
Unknown

Chr11:108330316

Pathogenic/Likely pathogenic

Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382560153

rs_1555123144

2 SubmittersRCV004439952

NM_000051.4(ATM):c.7629+2T>G

SNV
Unknown

Chr11:108331559

Likely pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA382560880

rs_786203059

1 SubmittersRCV004439954

NM_000051.4(ATM):c.5250G>A (p.Trp1750Ter)

SNV
Unknown

Chr11:108301720

Pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA382542467

rs_587779845

1 SubmittersRCV004439955

NM_000051.4(ATM):c.2617G>T (p.Gly873Ter)

SNV
Germline

Chr11:108267321

Pathogenic

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA382544233

rs_2081312339

2 SubmittersRCV004439959 RCV005281528

NM_000051.4(ATM):c.3284+2T>C

SNV
Unknown

Chr11:108272854

Likely pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA382516277

rs_2135573427

1 SubmittersRCV004439963

NM_000051.4(ATM):c.8472C>A (p.Cys2824Ter)

SNV
Unknown

Chr11:108345796

Pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA382517996

rs_1555138090

1 SubmittersRCV004439965

NM_000051.4(ATM):c.4109+2T>C

SNV
Unknown

Chr11:108287717

Likely pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA382528756

rs_2135738163

1 SubmittersRCV004439969

NM_000051.4(ATM):c.8332G>T (p.Glu2778Ter)

SNV
Unknown

Chr11:108343285

Pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA382516434

rs_2136946265

1 SubmittersRCV004439977

NM_000051.4(ATM):c.6807+1G>T

SNV
Unknown

Chr11:108325545

Likely pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA382555634

rs_2136319435

1 SubmittersRCV004439983

NM_000051.4(ATM):c.5344A>T (p.Lys1782Ter)

SNV
Germline

Chr11:108302877

Pathogenic

Familial cancer of breast
Ataxia-telangiectasia syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA382543179

rs_1591712154

2 SubmittersRCV004439985 RCV006484039

NM_032043.3(BRIP1):c.976C>T (p.Gln326Ter)

SNV
Unknown

Chr17:61801417

Pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA400484195

rs_1555607768

1 SubmittersRCV004439995

NM_000051.4(ATM):c.248C>G (p.Ser83Ter)

SNV
Unknown

Chr11:108229240

Pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA382521554

rs_2135035080

1 SubmittersRCV004439999

NM_000051.4(ATM):c.4909+2T>C

SNV
Germline

Chr11:108295061

Pathogenic/Likely pathogenic

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA382537331

rs_2135838442

2 SubmittersRCV004440003 RCV005734662

NM_000051.4(ATM):c.5707A>T (p.Lys1903Ter)

SNV
Germline

Chr11:108307929

Pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382547870

rs_765027485

2 SubmittersRCV004950786 RCV004440009

NM_000051.4(ATM):c.6807+1G>A

SNV
Germline

Chr11:108325545

Likely pathogenic

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA382555636

rs_2136319435

2 SubmittersRCV004440010 RCV005734663

NM_000465.4(BARD1):c.829G>T (p.Glu277Ter)

SNV
Unknown

Chr2:214781045

Pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA350455413

rs_1426045227

1 SubmittersRCV004440013

NM_000051.4(ATM):c.6900G>A (p.Trp2300Ter)

SNV
Germline

Chr11:108326150

Pathogenic

Familial cancer of breast
Ataxia-telangiectasia syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA382556955

rs_1591133875

3 SubmittersRCV004440014 RCV006564755 RCV004759392

NM_000051.4(ATM):c.2639-2A>C

SNV
Germline

Chr11:108268408

Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382544964

rs_1591593566

2 SubmittersRCV004676338 RCV004440017

NM_000051.4(ATM):c.1102C>T (p.Gln368Ter)

SNV
Unknown

Chr11:108248969

Pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA382532388

rs_1565378912

1 SubmittersRCV004440018

NM_000051.4(ATM):c.6614G>A (p.Trp2205Ter)

SNV
Unknown

Chr11:108325351

Pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA382554730

rs_2136308670

1 SubmittersRCV004440028

NM_000051.4(ATM):c.2639-2A>T

SNV
Unknown

Chr11:108268408

Likely pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA382544960

rs_1591593566

1 SubmittersRCV004440034

NM_000051.4(ATM):c.7311C>G (p.Tyr2437Ter)

SNV
Germline

Chr11:108330217

Pathogenic/Likely pathogenic

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA382559866

rs_763470424

4 SubmittersRCV004440035 RCV004676340 RCV005000500

NM_000051.4(ATM):c.7090-1G>A

SNV
Unknown

Chr11:108329020

Likely pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA382559373

rs_2085972658

1 SubmittersRCV004440037

NM_000051.4(ATM):c.8671+1G>C

SNV
Unknown

Chr11:108347366

Likely pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA382521353

rs_1555139694

1 SubmittersRCV004440050

NM_000051.4(ATM):c.1589C>G (p.Ser530Ter)

SNV
Unknown

Chr11:108251054

Pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA382534421

rs_2080120731

1 SubmittersRCV004440074

NM_000051.4(ATM):c.6874C>T (p.Gln2292Ter)

SNV
Unknown

Chr11:108326124

Pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA382556792

rs_2136334661

1 SubmittersRCV004440076

NM_000051.4(ATM):c.1152C>A (p.Cys384Ter)

SNV
Unknown

Chr11:108249019

Pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA382532491

rs_777755997

1 SubmittersRCV004440089

NM_000051.4(ATM):c.3837G>A (p.Trp1279Ter)

SNV
Unknown

Chr11:108284317

Pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA382525046

rs_2135706408

1 SubmittersRCV004440091

NM_000051.4(ATM):c.5177+1G>T

SNV
Unknown

Chr11:108299886

Likely pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA382541265

rs_1131691159

1 SubmittersRCV004440099

NM_000051.4(ATM):c.4188T>A (p.Cys1396Ter)

SNV
Unknown

Chr11:108289055

Pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA382530274

rs_1565455129

1 SubmittersRCV004440118

NM_000051.4(ATM):c.465C>A (p.Tyr155Ter)

SNV
Unknown

Chr11:108235803

Pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA382525472

rs_2079245609

1 SubmittersRCV004440121

NM_000051.4(ATM):c.1A>T (p.Met1Leu)

SNV
Unknown

Chr11:108227625

Pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA382518883

rs_730881359

1 SubmittersRCV004440130

NM_000051.4(ATM):c.7090-2A>T

SNV
Unknown

Chr11:108329019

Likely pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA382559372

rs_2136409527

1 SubmittersRCV004440136

NM_000051.4(ATM):c.1374C>A (p.Cys458Ter)

SNV
Unknown

Chr11:108250839

Pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA382533841

rs_2135320531

1 SubmittersRCV004440140

NM_000051.4(ATM):c.2209G>T (p.Glu737Ter)

SNV
Unknown

Chr11:108256299

Pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA382539040

rs_2135394119

1 SubmittersRCV004440156

NM_000051.4(ATM):c.3154-2A>C

SNV
Unknown

Chr11:108272720

Likely pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA382515462

rs_730881357

1 SubmittersRCV004440167

NM_000051.4(ATM):c.7169T>A (p.Leu2390Ter)

SNV
Unknown

Chr11:108329100

Pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA382559549

rs_2547248257

1 SubmittersRCV004440177

NM_000051.4(ATM):c.316A>T (p.Lys106Ter)

SNV
Unknown

Chr11:108229308

Pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA382521775

rs_2135038006

1 SubmittersRCV004440180

NM_000051.4(ATM):c.3994-1G>C

SNV
Unknown

Chr11:108287599

Likely pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA382527402

rs_1057516238

1 SubmittersRCV004440197

NM_000051.4(ATM):c.6347+1G>T

SNV
Unknown

Chr11:108317522

Likely pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA382552359

rs_1057517120

1 SubmittersRCV004440200

NM_000051.4(ATM):c.8010+1G>C

SNV
Unknown

Chr11:108333969

Likely pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA6266234

rs_775136925

1 SubmittersRCV004440212

NM_000051.4(ATM):c.3078-1G>T

SNV
Unknown

Chr11:108272531

Likely pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA382514973

rs_750663117

1 SubmittersRCV004440218

NM_000465.4(BARD1):c.1759G>T (p.Glu587Ter)

SNV
Unknown

Chr2:214745773

Pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA350452854

rs_780820468

1 SubmittersRCV004440236

NM_000051.4(ATM):c.979G>T (p.Gly327Ter)

SNV
Unknown

Chr11:108247041

Pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA382531128

rs_2135266984

1 SubmittersRCV004440246

NM_000051.4(ATM):c.2654T>A (p.Leu885Ter)

SNV
Unknown

Chr11:108268425

Pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA382545034

rs_1555083096

1 SubmittersRCV004440253

NM_000051.4(ATM):c.2922-1G>C

SNV
Unknown

Chr11:108271250

Likely pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA382547062

rs_1555084931

1 SubmittersRCV004440267

NM_000051.4(ATM):c.1803-1G>T

SNV
Unknown

Chr11:108252816

Likely pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA382535672

rs_2135352415

1 SubmittersRCV004440269

NM_000051.4(ATM):c.3G>C (p.Met1Ile)

SNV
Germline

Chr11:108227627

Pathogenic

Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382518896

rs_781404312

2 SubmittersRCV004440277

NM_000051.4(ATM):c.988G>T (p.Gly330Ter)

SNV
Germline

Chr11:108247050

Pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382531230

rs_2135267332

2 SubmittersRCV004440301 RCV004440300

NM_000051.4(ATM):c.5633C>A (p.Ser1878Ter)

SNV
Germline

Chr11:108304811

Pathogenic

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA382546400

rs_758908522

2 SubmittersRCV004440320 RCV004950788

NM_000051.4(ATM):c.2360T>A (p.Leu787Ter)

SNV
Unknown

Chr11:108257590

Pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA382540319

rs_2135408030

1 SubmittersRCV004440338

NM_032043.3(BRIP1):c.2899G>T (p.Glu967Ter)

SNV
Unknown

Chr17:61685842

Pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA400481122

rs_1305928655

1 SubmittersRCV004440347

NM_000051.4(ATM):c.2972T>A (p.Leu991Ter)

SNV
Unknown

Chr11:108271301

Pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA382547271

rs_1227701474

1 SubmittersRCV004440360

NM_000051.4(ATM):c.2117C>A (p.Ser706Ter)

SNV
Unknown

Chr11:108254032

Pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA382537776

rs_779004090

1 SubmittersRCV004440371

NM_000051.4(ATM):c.614T>A (p.Leu205Ter)

SNV
Unknown

Chr11:108244070

Pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA382528227

rs_2079705608

1 SubmittersRCV004440387

NM_000051.4(ATM):c.4796C>A (p.Ser1599Ter)

SNV
Unknown

Chr11:108294946

Pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA382536344

rs_1591684337

1 SubmittersRCV004440389

NM_000051.4(ATM):c.5347G>T (p.Glu1783Ter)

SNV
Germline

Chr11:108302880

Pathogenic

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA382543202

rs_2083498434

2 SubmittersRCV004440391 RCV004950790

NM_000051.4(ATM):c.1204A>T (p.Lys402Ter)

SNV
Germline

Chr11:108249071

Pathogenic

Familial cancer of breast
Ataxia-telangiectasia syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA382532601

rs_2135294835

2 SubmittersRCV004440396 RCV005104636

NM_000051.4(ATM):c.4823T>A (p.Leu1608Ter)

SNV
Unknown

Chr11:108294973

Pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA382536710

rs_2135835079

1 SubmittersRCV004442412

NM_000051.4(ATM):c.5496+1G>C

SNV
Unknown

Chr11:108303030

Likely pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA382544531

rs_879254180

1 SubmittersRCV004442417

NM_000051.4(ATM):c.1766T>A (p.Leu589Ter)

SNV
Unknown

Chr11:108251995

Pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA382535436

rs_2135343637

1 SubmittersRCV004442465

NM_000051.4(ATM):c.6347+1G>C

SNV
Unknown

Chr11:108317522

Likely pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA382552357

rs_1057517120

1 SubmittersRCV004442476

NM_000051.4(ATM):c.7318A>T (p.Lys2440Ter)

SNV
Unknown

Chr11:108330224

Pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA382559879

rs_1565529306

1 SubmittersRCV004442498

NM_000051.4(ATM):c.1236G>A (p.Trp412Ter)

SNV
Unknown

Chr11:108250701

Pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA382533128

rs_79220522

1 SubmittersRCV004442636

NM_000051.4(ATM):c.3753T>A (p.Cys1251Ter)

SNV
Unknown

Chr11:108284233

Pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA382524210

rs_2135704274

1 SubmittersRCV004442668

NM_000051.4(ATM):c.3746+2T>C

SNV
Germline

Chr11:108282881

Likely pathogenic

Familial cancer of breast
Ataxia-telangiectasia syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA382523928

rs_2135691302

2 SubmittersRCV004442673 RCV006484044

NM_000051.4(ATM):c.5918+2T>C

SNV
Germline

Chr11:108310317

Likely pathogenic

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA382548618

rs_2547030807

2 SubmittersRCV004442699 RCV005734666

NM_000051.4(ATM):c.8850+2T>A

SNV
Unknown

Chr11:108354876

Likely pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA382526137

rs_1555143623

1 SubmittersRCV004442703

NM_007194.4(CHEK2):c.1102G>C (p.Asp368His)

SNV
Unknown

Chr22:28695867

Likely pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA411097186

rs_755127902

1 SubmittersRCV004442708

NM_000051.4(ATM):c.7308-14T>G

SNV
Germline

Chr11:108330200

Likely pathogenic

Familial cancer of breast
ATM-related cancer predisposition

Reviewed By Expert Panel

CA2582343067

rs_2547259897

2 SubmittersRCV004442727 RCV005001460

NM_000051.4(ATM):c.6352G>T (p.Glu2118Ter)

SNV
Unknown

Chr11:108319958

Pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

CA382553148

rs_2136218596

1 SubmittersRCV004442733

NM_000465.4(BARD1):c.365-5G>A

SNV
Germline

Chr2:214781514

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA2825001080

rs_1378664671

2 SubmittersRCV004518513 RCV004787121

NM_024675.4(PALB2):c.1838A>T (p.Gln613Leu)

SNV
Germline

Chr16:23630316

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA395127862

rs_1966865170

2 SubmittersRCV004517741 RCV005100631

NM_024675.4(PALB2):c.2817G>A (p.Leu939=)

SNV
Germline

Chr16:23624026

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA494181085

rs_1555459710

3 SubmittersRCV004517764 RCV005100633

NM_024675.4(PALB2):c.282A>C (p.Glu94Asp)

SNV
Germline

Chr16:23636264

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA395138838

rs_2142447037

2 SubmittersRCV004517765 RCV006564887

NM_000051.4(ATM):c.2510C>A (p.Ser837Ter)

SNV
Germline

Chr11:108267214

Pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382543388

rs_2081303434

2 SubmittersRCV004521139 RCV004573483

NM_000051.4(ATM):c.259C>T (p.Gln87Ter)

SNV
Germline

Chr11:108229251

Pathogenic/Likely pathogenic

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_2135035580

2 SubmittersRCV004573896 RCV004674024

NM_000051.4(ATM):c.924G>A (p.Trp308Ter)

SNV
Unknown

Chr11:108246986

Likely pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

rs_2135264983

1 SubmittersRCV004573908

NM_000051.4(ATM):c.797G>A (p.Trp266Ter)

SNV
Unknown

Chr11:108244922

Likely pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

rs_2135241227

1 SubmittersRCV004573924

NM_000051.4(ATM):c.659C>G (p.Ala220Gly)

SNV
Germline

Chr11:108244115

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_145355104

2 SubmittersRCV004573926 RCV004950798

NM_000051.4(ATM):c.8249T>G (p.Leu2750Ter)

SNV
Unknown

Chr11:108335942

Likely pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

rs_2136699335

1 SubmittersRCV004573930

NM_000059.4(BRCA2):c.9361G>T (p.Ala3121Ser)

SNV
Germline

Chr13:32394793

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_2137653139

2 SubmittersRCV004575445 RCV004950801

NM_004360.5(CDH1):c.2439+2T>C

SNV
Germline

Chr16:68829799

Likely pathogenic

Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

rs_2543957611

2 SubmittersRCV004575508

NM_000051.4(ATM):c.5178-6T>C

SNV
Germline

Chr11:108301642

Conflicting classifications of pathogenicity

Familial cancer of breast
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

rs_2546972568

2 SubmittersRCV004593708 RCV005102018

NM_000051.4(ATM):c.6807+5A>G

SNV
Germline

Chr11:108325549

Conflicting classifications of pathogenicity

Familial cancer of breast
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

rs_2547207738

2 SubmittersRCV004593783 RCV006489024

NM_000051.4(ATM):c.1068T>G (p.Val356=)

SNV
Germline

Chr11:108248935

Conflicting classifications of pathogenicity

Familial cancer of breast

Criteria Provided
Conflicting Classifications

rs_1462038794

2 SubmittersRCV004593785

NM_000051.4(ATM):c.4926G>T (p.Gly1642=)

SNV
Germline

Chr11:108297303

Conflicting classifications of pathogenicity

Familial cancer of breast
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

rs_2135861602

2 SubmittersRCV004593822 RCV005059590

NM_000051.4(ATM):c.1608-11T>C

SNV
Germline

Chr11:108251826

Conflicting classifications of pathogenicity

Familial cancer of breast
Condition: not provided
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

rs_2080161530

3 SubmittersRCV004593886 RCV004759427 RCV005102027

NM_000051.4(ATM):c.2467-5T>C

SNV
Germline

Chr11:108267166

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_2497588983

2 SubmittersRCV004593897 RCV005291095

NM_000051.4(ATM):c.3154-3T>C

SNV
Germline

Chr11:108272719

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_2081656681

2 SubmittersRCV004593927 RCV005281541

NM_000051.4(ATM):c.5006-13T>C

SNV
Germline

Chr11:108299701

Conflicting classifications of pathogenicity

Familial cancer of breast
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

rs_776312790

2 SubmittersRCV004589025 RCV006564993

NM_000051.4(ATM):c.4273C>T (p.Gln1425Ter)

SNV
Unknown

Chr11:108289638

Pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

rs_2135760052

1 SubmittersRCV004589050

NM_024675.4(PALB2):c.2997-1G>C

SNV
Germline

Chr16:23621479

Likely pathogenic

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Hepatocellular carcinoma

Criteria Provided
Multiple Submitters
No Conflicts

rs_754465466

3 SubmittersRCV004589108 RCV005468117 RCV005933655

NM_000051.4(ATM):c.4109+4T>A

SNV
Germline

Chr11:108287719

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_754706599

2 SubmittersRCV004589141 RCV005281542

NM_000051.4(ATM):c.8638G>T (p.Glu2880Ter)

SNV
Unknown

Chr11:108347332

Pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

rs_771930635

1 SubmittersRCV004589288

NM_000051.4(ATM):c.3552A>G (p.Gly1184=)

SNV
Germline

Chr11:108281144

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_2546871416

2 SubmittersRCV004589379 RCV004950823

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_000465.4(BARD1):c.950A>G (p.Glu317Gly)

SNV
Germline

Chr2:214780924

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

2 SubmittersRCV004605640 RCV005102086

NM_024675.4(PALB2):c.2793C>A (p.Leu931=)

SNV
Germline

Chr16:23624050

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

3 SubmittersRCV004650735 RCV005102351

NM_024675.4(PALB2):c.3350+1G>C

SNV
Germline

Chr16:23607863

Likely pathogenic

Condition: not provided
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV004697935 RCV005249713

NM_002875.5(RAD51):c.773A>C (p.Glu258Ala)

SNV
Germline

Chr15:40729633

Conflicting classifications of pathogenicity

Familial cancer of breast
Condition: not provided
Lung cancer

Criteria Provided
Conflicting Classifications

3 SubmittersRCV004699175 RCV005103552 RCV005933932

NM_021224.6(ZNF462):c.6696-2A>C

SNV
Germline

Chr9:106974135

Pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

1 SubmittersRCV004759444

NM_021224.6(ZNF462):c.4891C>T (p.Gln1631Ter)

SNV
Germline

Chr9:106928803

Likely pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

1 SubmittersRCV004759445

NM_000051.4(ATM):c.7515+2C>T

SNV
Germline

Chr11:108330423

Likely pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

1 SubmittersRCV004788329

NM_000051.4(ATM):c.6095+2T>G

SNV
Unknown

Chr11:108315913

Likely pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

1 SubmittersRCV004787573

NM_000465.4(BARD1):c.1648G>T (p.Glu550Ter)

SNV
Unknown

Chr2:214752476

Pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

1 SubmittersRCV004787629

NM_000465.4(BARD1):c.1584G>C (p.Leu528=)

SNV
Germline

Chr2:214752540

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV004787676 RCV006551228

NM_032043.3(BRIP1):c.1795-5T>C

SNV
Germline

Chr17:61780406

Conflicting classifications of pathogenicity

Familial cancer of breast
Fanconi anemia complementation group J
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

3 SubmittersRCV004788907 RCV005218323 RCV005323667

NM_000465.4(BARD1):c.1396-5A>T

SNV
Germline

Chr2:214767659

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV004789015 RCV005764967

NM_000051.4(ATM):c.4996G>T (p.Glu1666Ter)

SNV
Germline

Chr11:108297373

Pathogenic

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV004789041 RCV005269072

NM_000465.4(BARD1):c.1851C>G (p.Thr617=)

SNV
Germline

Chr2:214745119

Conflicting classifications of pathogenicity

Familial cancer of breast
not specified

Criteria Provided
Conflicting Classifications

2 SubmittersRCV004789107 RCV006274471

NM_000051.4(ATM):c.7516-1G>T

SNV
Germline

Chr11:108331443

Likely pathogenic

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV004789110 RCV005283547

NM_032043.3(BRIP1):c.2789C>G (p.Ser930Ter)

SNV
Unknown

Chr17:61685952

Pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

1 SubmittersRCV004791922

NM_024675.4(PALB2):c.2159C>T (p.Thr720Ile)

SNV
Germline

Chr16:23629995

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

2 SubmittersRCV004945576 RCV006479541

NM_024675.4(PALB2):c.283A>T (p.Lys95Ter)

SNV
Germline

Chr16:23636263

Pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV004945583 RCV006479542

NM_000051.4(ATM):c.1236-404C>T

SNV
Germline

Chr11:108250297

Likely pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV004949123 RCV005392916

NM_000051.4(ATM):c.2922-2A>G

SNV
Germline

Chr11:108271249

Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV004949124 RCV005603885

NM_000051.4(ATM):c.3402+2T>G

SNV
Germline

Chr11:108279610

Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV004949225 RCV005621311

NM_032043.3(BRIP1):c.3545C>T (p.Ala1182Val)

SNV
Germline

Chr17:61683501

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Fanconi anemia complementation group J

Criteria Provided
Conflicting Classifications

2 SubmittersRCV004952587 RCV006565605

NM_000465.4(BARD1):c.1548T>G (p.Tyr516Ter)

SNV
Germline

Chr2:214767502

Pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV004951099 RCV005110026

NM_007194.4(CHEK2):c.445-1G>T

SNV
Germline

Chr22:28725125

Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV004952803 RCV005110117

NM_000051.4(ATM):c.2857G>T (p.Glu953Ter)

SNV
Germline

Chr11:108271082

Likely pathogenic

Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Single Submitter

1 SubmittersRCV005044269

NM_000051.4(ATM):c.6096-1G>A

SNV
Germline

Chr11:108316010

Likely pathogenic

Ataxia-telangiectasia syndrome
Familial cancer of breast
Familial cancer of breast

Criteria Provided
Single Submitter

2 SubmittersRCV005044274 RCV005937681

NM_000465.4(BARD1):c.1396-11A>G

SNV
Germline

Chr2:214767665

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005072488 RCV005303478

NM_004360.5(CDH1):c.36G>A (p.Leu12=)

SNV
Germline

Chr16:68737451

Conflicting classifications of pathogenicity

Ovarian cancer
Familial cancer of breast
Hereditary diffuse gastric adenocarcinoma

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005358203 RCV005077246

NM_007194.4(CHEK2):c.1008+2T>A

SNV
Germline

Chr22:28699836

Likely pathogenic

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005123393 RCV005545244

NM_024675.4(PALB2):c.231T>A (p.Cys77Ter)

SNV
Germline

Chr16:23636315

Pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

1 SubmittersRCV005125127

NM_007194.4(CHEK2):c.1543-2A>T

SNV
Germline

Chr22:28687988

Likely pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

1 SubmittersRCV005125235

NM_007194.4(CHEK2):c.832A>T (p.Lys278Ter)

SNV
Germline

Chr22:28710020

Pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

1 SubmittersRCV005125433

NM_000465.4(BARD1):c.1702G>T (p.Gly568Ter)

SNV
Germline

Chr2:214745830

Pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

1 SubmittersRCV005129838

NM_000465.4(BARD1):c.2217T>G (p.Tyr739Ter)

SNV
Germline

Chr2:214728793

Likely pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

1 SubmittersRCV005141204

NM_024675.4(PALB2):c.1951G>T (p.Gly651Ter)

SNV
Germline

Chr16:23630203

Pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

1 SubmittersRCV005138426

NM_007194.4(CHEK2):c.1151T>G (p.Leu384Ter)

SNV
Germline

Chr22:28695818

Pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

1 SubmittersRCV005135884

NM_000465.4(BARD1):c.188T>A (p.Leu63Ter)

SNV
Germline

Chr2:214797088

Pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

1 SubmittersRCV005150239

NM_000465.4(BARD1):c.1936G>T (p.Glu646Ter)

SNV
Germline

Chr2:214730476

Pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

1 SubmittersRCV005174323

NM_000465.4(BARD1):c.990T>A (p.Ser330Arg)

SNV
Germline

Chr2:214780884

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005172243 RCV005774753

NM_025137.4(SPG11):c.3039-1G>T

SNV
Germline

Chr15:44613537

Likely pathogenic

Hereditary spastic paraplegia 11
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV005181117 RCV005937948

NM_024675.4(PALB2):c.733G>T (p.Ala245Ser)

SNV
Germline

Chr16:23635813

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005187562 RCV005387383

NM_024675.4(PALB2):c.2515-2A>C

SNV
Germline

Chr16:23629277

Likely pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

1 SubmittersRCV005203142

NM_007194.4(CHEK2):c.1477A>T (p.Arg493Ter)

SNV
Germline

Chr22:28689200

Pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

1 SubmittersRCV005201580

NM_000465.4(BARD1):c.1444C>T (p.Gln482Ter)

SNV
Germline

Chr2:214767606

Pathogenic

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005197083 RCV005774761

NM_024675.4(PALB2):c.3173C>A (p.Ser1058Ter)

SNV
Germline

Chr16:23614032

Pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

1 SubmittersRCV005197201

NM_007194.4(CHEK2):c.1304C>G (p.Ser435Ter)

SNV
Germline

Chr22:28695198

Pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

1 SubmittersRCV005198482

NM_007194.4(CHEK2):c.981T>G (p.Tyr327Ter)

SNV
Germline

Chr22:28699865

Pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

1 SubmittersRCV005204762

NM_003579.4(RAD54L):c.1511T>C (p.Ile504Thr)

SNV
Germline

Chr1:46273648

Conflicting classifications of pathogenicity

Familial cancer of breast
not specified

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005208452 RCV005709679

NM_032043.3(BRIP1):c.2213T>A (p.Leu738Ter)

SNV
Germline

Chr17:61744476

Pathogenic

Familial cancer of breast
Fanconi anemia complementation group J

Criteria Provided
Single Submitter

1 SubmittersRCV005223839

NM_032043.3(BRIP1):c.2251G>T (p.Glu751Ter)

SNV
Germline

Chr17:61744438

Pathogenic

Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Single Submitter

1 SubmittersRCV005215478

NM_032043.3(BRIP1):c.2451T>A (p.Tyr817Ter)

SNV
Germline

Chr17:61715992

Pathogenic

Familial cancer of breast
Fanconi anemia complementation group J

Criteria Provided
Single Submitter

1 SubmittersRCV005212971

NM_032043.3(BRIP1):c.1195G>T (p.Glu399Ter)

SNV
Germline

Chr17:61799245

Pathogenic

Fanconi anemia complementation group J
Familial cancer of breast
Familial ovarian cancer

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005214870 RCV005358259

NM_032043.3(BRIP1):c.2098-2A>T

SNV
Germline

Chr17:61744593

Likely pathogenic

Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Single Submitter

1 SubmittersRCV005212812

NM_032043.3(BRIP1):c.205+1G>A

SNV
Germline

Chr17:61859795

Likely pathogenic

Fanconi anemia complementation group J
Familial cancer of breast
Condition: not provided
Familial ovarian cancer

Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV005226394 RCV006259652 RCV006634056

NM_032043.3(BRIP1):c.1795-3T>G

SNV
Germline

Chr17:61780404

Conflicting classifications of pathogenicity

Familial cancer of breast
Fanconi anemia complementation group J
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005224056 RCV005537841

NM_000059.4(BRCA2):c.2542A>T (p.Lys848Ter)

SNV
Germline

Chr13:32336897

Pathogenic

Familial cancer of breast
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005412743 RCV005231862

NM_001354930.2(RIPK1):c.1577-1G>A

SNV
Germline

Chr6:3110802

Likely pathogenic

Condition: not provided
Familial cancer of breast

Criteria Provided
Single Submitter

2 SubmittersRCV005232496 RCV005939568

NM_032043.3(BRIP1):c.507+2T>C

SNV
Unknown

Chr17:61849127

Likely pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

1 SubmittersRCV005249877

NM_000051.4(ATM):c.7002C>A (p.Tyr2334Ter)

SNV
Unknown

Chr11:108327671

Pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

1 SubmittersRCV005246142

NM_024675.4(PALB2):c.211+1G>C

SNV
Unknown

Chr16:23637849

Likely pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

1 SubmittersRCV005246180

NM_007194.4(CHEK2):c.1096-3T>C

SNV
Germline

Chr22:28695876

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005247596 RCV005326076

NM_000051.4(ATM):c.2002G>T (p.Glu668Ter)

SNV
Germline

Chr11:108253917

Pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

1 SubmittersRCV005360236

NM_000249.4(MLH1):c.116+106G>A

SNV
Germline

Chr3:36993769

Likely pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

1 SubmittersRCV005365704

NM_001048174.2(MUTYH):c.914-13T>G

SNV
Germline

Chr1:45331862

Likely pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

1 SubmittersRCV005362220

NM_024675.4(PALB2):c.2841G>A (p.Leu947=)

SNV
Germline

Chr16:23623124

Conflicting classifications of pathogenicity

Breast-ovarian cancer, familial, susceptibility to, 5
Familial cancer of breast

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005362308 RCV005422603

NM_000179.3(MSH6):c.*15A>C

SNV
Germline

Chr2:47806875

Likely pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

1 SubmittersRCV005357013

NM_000465.4(BARD1):c.1058C>T (p.Pro353Leu)

SNV
Germline

Chr2:214780816

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005305155 RCV006474825

NM_024675.4(PALB2):c.828C>A (p.His276Gln)

SNV
Germline

Chr16:23635718

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005386217 RCV006475144

NM_005502.4(ABCA1):c.5383-2A>T

SNV
Germline

Chr9:104794512

Likely pathogenic

Hypoalphalipoproteinemia, primary, 1
Tangier disease
Uterine carcinosarcoma
Cholangiocarcinoma
Familial cancer of breast

Criteria Provided
Single Submitter

2 SubmittersRCV005396345 RCV005939995 RCV005939996 RCV005939994

NM_000051.4(ATM):c.4612-12A>G

SNV
Germline

Chr11:108293301

Likely pathogenic

Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Single Submitter

1 SubmittersRCV005396379

NM_024675.4(PALB2):c.*7G>A

SNV
Unknown

Chr16:23603452

Conflicting classifications of pathogenicity

Familial cancer of breast
Condition: not provided

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005426475 RCV006259685

NM_000465.4(BARD1):c.425C>G (p.Ser142Ter)

SNV
Unknown

Chr2:214781449

Pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

1 SubmittersRCV005426499

NM_032043.3(BRIP1):c.1874C>G (p.Ser625Ter)

SNV
Unknown

Chr17:61780322

Pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

1 SubmittersRCV005424424

NM_000465.4(BARD1):c.540T>G (p.Tyr180Ter)

SNV
Unknown

Chr2:214781334

Pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

1 SubmittersRCV005421707

NM_000051.4(ATM):c.3284G>C (p.Arg1095Thr)

SNV
Germline

Chr11:108272852

Likely pathogenic

ATM-related cancer predisposition
Familial cancer of breast

Reviewed By Expert Panel

2 SubmittersRCV005600607 RCV005867399

NM_032043.3(BRIP1):c.2763T>A (p.Tyr921Ter)

SNV
Unknown

Chr17:61685978

Pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

1 SubmittersRCV005621653

NM_007194.4(CHEK2):c.683G>C (p.Ser228Thr)

SNV
Germline

Chr22:28719395

Conflicting classifications of pathogenicity

Familial cancer of breast
not specified

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005621795 RCV006274550

NM_024675.4(PALB2):c.3532G>T (p.Gly1178Ter)

SNV
Unknown

Chr16:23603488

Pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

1 SubmittersRCV005621820

NM_020937.4(FANCM):c.4222G>T (p.Asp1408Tyr)

SNV
Germline

Chr14:45176976

Pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

1 SubmittersRCV005630243

NM_032043.3(BRIP1):c.1794+2T>C

SNV
Germline

Chr17:61780838

Likely pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

1 SubmittersRCV005638243

NM_000465.4(BARD1):c.874A>T (p.Lys292Ter)

SNV
Germline

Chr2:214781000

Likely pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

1 SubmittersRCV005645909

NM_024675.4(PALB2):c.3067C>G (p.Gln1023Glu)

SNV
Germline

Chr16:23621408

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005693707 RCV006485109

NM_000051.4(ATM):c.5110G>T (p.Glu1704Ter)

SNV
Unknown

Chr11:108299818

Pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

1 SubmittersRCV005882932

NM_000051.4(ATM):c.3284G>T (p.Arg1095Ile)

SNV
Unknown

Chr11:108272852

Likely pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

1 SubmittersRCV005882975

NM_000465.4(BARD1):c.1235C>G (p.Ser412Ter)

SNV
Unknown

Chr2:214780639

Pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

1 SubmittersRCV005883013

NM_000051.4(ATM):c.7969A>T (p.Lys2657Ter)

SNV
Unknown

Chr11:108333927

Pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

1 SubmittersRCV005883016

NM_000051.4(ATM):c.7788+2T>A

SNV
Unknown

Chr11:108332039

Pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

1 SubmittersRCV005883038

NM_000051.4(ATM):c.5319G>A (p.Lys1773=)

SNV
Unknown

Chr11:108301789

Likely pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

1 SubmittersRCV005883114

NM_024675.4(PALB2):c.355C>T (p.Gln119Ter)

SNV
Unknown

Chr16:23636191

Pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

1 SubmittersRCV005883115

NM_201525.4(ADGRG1):c.1286+2T>A

SNV
Germline

Chr16:57657493

Likely pathogenic

Familial cancer of breast
Condition: not provided

Criteria Provided
Single Submitter

2 SubmittersRCV006100536 RCV006475247

NM_024675.4(PALB2):c.621A>C (p.Pro207=)

SNV
Germline

Chr16:23635925

Conflicting classifications of pathogenicity

not specified
Familial cancer of breast

Criteria Provided
Conflicting Classifications

2 SubmittersRCV006266211 RCV006475380

NM_032043.3(BRIP1):c.1341-1G>A

SNV
Germline

Chr17:61793730

Likely pathogenic

Hereditary cancer-predisposing syndrome
Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV006376679 RCV006569860

NM_024675.4(PALB2):c.2943T>A (p.Ser981Arg)

SNV
Germline

Chr16:23623022

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

2 SubmittersRCV006420200 RCV006632545

NM_024675.4(PALB2):c.48+2T>C

SNV
Germline

Chr16:23641108

Likely pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

1 SubmittersRCV006494997

NM_000465.4(BARD1):c.425C>A (p.Ser142Ter)

SNV
Germline

Chr2:214781449

Pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

1 SubmittersRCV006512953

NM_007194.4(CHEK2):c.320-2A>C

SNV
Germline

Chr22:28725369

Pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

1 SubmittersRCV006501717

NM_000465.4(BARD1):c.859G>T (p.Glu287Ter)

SNV
Germline

Chr2:214781015

Pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

1 SubmittersRCV006497492

NM_007194.4(CHEK2):c.188T>A (p.Leu63Ter)

SNV
Germline

Chr22:28734534

Pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

1 SubmittersRCV006497597

NM_007194.4(CHEK2):c.444G>C (p.Arg148Ser)

SNV
Germline

Chr22:28725243

Likely pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

1 SubmittersRCV006514471

NM_000465.4(BARD1):c.2077A>T (p.Lys693Ter)

SNV
Germline

Chr2:214728933

Likely pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

1 SubmittersRCV006520712

NM_007194.4(CHEK2):c.583A>T (p.Arg195Ter)

SNV
Germline

Chr22:28724986

Pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

1 SubmittersRCV006530747

NM_024675.4(PALB2):c.2045C>G (p.Ser682Ter)

SNV
Germline

Chr16:23630109

Pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

1 SubmittersRCV006519025

NM_007194.4(CHEK2):c.684-2A>C

SNV
Germline

Chr22:28712019

Likely pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

1 SubmittersRCV006538636

NM_024675.4(PALB2):c.1684G>C (p.Gly562Arg)

SNV
Germline

Chr16:23634862

Likely pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

1 SubmittersRCV006570773

NM_024675.4(PALB2):c.919A>T (p.Lys307Ter)

SNV
Germline

Chr16:23635627

Pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

1 SubmittersRCV006577846

NM_032043.3(BRIP1):c.380-1G>A

SNV
Germline

Chr17:61849257

Likely pathogenic

Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Single Submitter

1 SubmittersRCV006602234

NM_032043.3(BRIP1):c.1365T>A (p.Tyr455Ter)

SNV
Germline

Chr17:61793705

Pathogenic

Familial cancer of breast
Fanconi anemia complementation group J

Criteria Provided
Single Submitter

1 SubmittersRCV006602503

NM_032043.3(BRIP1):c.1668C>A (p.Tyr556Ter)

SNV
Germline

Chr17:61780966

Pathogenic

Fanconi anemia complementation group J
Familial cancer of breast

Criteria Provided
Single Submitter

1 SubmittersRCV006595591

NM_000051.4(ATM):c.2374A>T (p.Lys792Ter)

SNV
Unknown

Chr11:108257604

Pathogenic

Familial cancer of breast

Criteria Provided
Single Submitter

1 SubmittersRCV006634246