Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_007194.4(CHEK2):c.470T>C (p.Ile157Thr)	SNV Germline	Chr22:28725099	Conflicting classifications of pathogenicity; risk factor	Li-Fraumeni syndrome 2 Hereditary cancer-predisposing syndrome not specified Familial cancer of breast Breast and colorectal cancer, susceptibility to Condition: not provided Adrenal cortex carcinoma Gastrointestinal carcinoma Malignant tumor of breast Breast and/or ovarian cancer Malignant tumor of prostate Li-Fraumeni syndrome 2 Familial cancer of breast Bone osteosarcoma Predisposition to cancer Malignant tumor of prostate Li-Fraumeni syndrome 2 Familial cancer of breast Bone osteosarcoma Colorectal cancer TUMOR PREDISPOSITION SYNDROME 4, BREAST/PROSTATE/COLORECTAL Malignant tumor of prostate CHEK2-related disorder CHEK2-related cancer predisposition	Criteria Provided Conflicting Classifications	CA117630	rs_17879961	41 SubmittersRCV000005936 RCV000116018 RCV000120555 RCV000144596 RCV000210131 RCV000212410 RCV000626718 RCV001358111 RCV001797993 RCV002054420 RCV002254675 RCV003224091 RCV003333685 RCV003447470 RCV004528085 RCV004556709
NM_007194.4(CHEK2):c.433C>T (p.Arg145Trp)	SNV Germline	Chr22:28725254	Likely pathogenic	Li-Fraumeni syndrome 2 Hereditary cancer-predisposing syndrome not specified Familial cancer of breast Condition: not provided Li-Fraumeni syndrome Malignant tumor of breast Gastric cancer Li-Fraumeni syndrome 1 Breast and/or ovarian cancer CHEK2-related cancer predisposition	Criteria Provided Multiple Submitters No Conflicts	CA117632	rs_137853007	29 SubmittersRCV000005940 RCV000116016 RCV000120554 RCV000197612 RCV000505730 RCV000587420 RCV001358124 RCV003162212 RCV003224854 RCV003149565 RCV004556710
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 Malignant tumor of prostate Li-Fraumeni syndrome 2 Familial cancer of breast Bone osteosarcoma Hereditary breast ovarian cancer syndrome not specified Li-Fraumeni syndrome 2 Malignant tumor of breast Breast and/or ovarian cancer Malignant tumor of prostate CHEK2-related cancer predisposition	Criteria Provided Conflicting Classifications	CA117641	rs_121908701	20 SubmittersRCV000129670 RCV000114761 RCV000233960 RCV000765623 RCV001030688 RCV001193685 RCV001294022 RCV001357854 RCV001797995 RCV003333687 RCV004556711
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 Malignant tumor of prostate Li-Fraumeni syndrome 2 Familial cancer of breast Bone osteosarcoma Colorectal cancer Malignant tumor of prostate CHEK2-related disorder Li-Fraumeni syndrome 2	Criteria Provided Conflicting Classifications	CA117644	rs_121908702	20 SubmittersRCV000114762 RCV000131201 RCV000205850 RCV001818140 RCV001789748 RCV002476934 RCV003333689 RCV004532294 RCV004760322
NM_007194.4(CHEK2):c.1283C>T (p.Ser428Phe)	SNV Germline	Chr22:28695219	Conflicting classifications of pathogenicity	Breast cancer, susceptibility to Breast and colorectal cancer, susceptibility to Hereditary cancer-predisposing syndrome Condition: not provided Familial cancer of breast Breast neoplasm Malignant tumor of prostate Li-Fraumeni syndrome 2 Bone osteosarcoma Familial cancer of breast Hereditary breast ovarian cancer syndrome Malignant tumor of breast CHEK2-related cancer risk TUMOR PREDISPOSITION SYNDROME 4, BREAST Breast and/or ovarian cancer CHEK2-related disorder CHEK2-related cancer predisposition Inherited breast cancer and ovarian cancer	Criteria Provided Conflicting Classifications	CA250528	rs_137853011	35 SubmittersRCV000005953 RCV000210180 RCV000115994 RCV000212459 RCV000197718 RCV000388223 RCV000515286 RCV000586482 RCV001354412 RCV001449813 RCV003333691 RCV003492287 RCV004532295 RCV004556712 RCV004691717
NM_000546.6(TP53):c.742C>T (p.Arg248Trp)	SNV Germline/somatic	Chr17:7674221	Pathogenic	Li-Fraumeni syndrome 1 Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Condition: not provided Neoplasm 7 conditions Ovarian neoplasm Choroid plexus carcinoma Lip and oral cavity carcinoma Gallbladder cancer Malignant lymphoma, large B-cell, diffuse Congenital fibrosarcoma Adrenocortical carcinoma, hereditary Gastric cancer Breast and/or ovarian cancer TP53-related disorder	Reviewed By Expert Panel	CA000382	rs_121912651	33 SubmittersRCV000013140 RCV000168242 RCV000115735 RCV000213057 RCV000438698 RCV000735293 RCV000785485 RCV001271100 RCV001255674 RCV001374442 RCV003318332 RCV003105772 RCV003460463 RCV003162243 RCV003149569 RCV004745154
NM_000546.6(TP53):c.772G>A (p.Glu258Lys)	SNV Germline/somatic	Chr17:7674191	Pathogenic/Likely pathogenic	Li-Fraumeni syndrome 1 Condition: not provided not specified Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Ovarian neoplasm	Criteria Provided Multiple Submitters No Conflicts	CA000406	rs_121912652	9 SubmittersRCV000013141 RCV000161071 RCV000582699 RCV000772122 RCV000792895 RCV000785291
NM_000546.6(TP53):c.733G>T (p.Gly245Cys)	SNV Germline/somatic	Chr17:7674230	Pathogenic	Li-Fraumeni syndrome 1 Condition: not provided Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Breast and/or ovarian cancer Neoplasm	Criteria Provided Multiple Submitters No Conflicts	CA000369	rs_28934575	8 SubmittersRCV000013142 RCV000161025 RCV000492412 RCV000633397 RCV001271056 RCV004668714
NM_000546.6(TP53):c.755T>C (p.Leu252Pro)	SNV Germline	Chr17:7674208	Conflicting classifications of pathogenicity	Li-Fraumeni syndrome 1 Li-Fraumeni syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA000398	rs_121912653	3 SubmittersRCV000013143 RCV001213570 RCV003237412
NM_000546.6(TP53):c.747G>T (p.Arg249Ser)	SNV Germline/somatic	Chr17:7674216	Pathogenic/Likely pathogenic	Hepatocellular carcinoma Cervical cancer Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Ovarian neoplasm Squamous cell carcinoma of the head and neck Condition: not provided Li-Fraumeni syndrome 1 Adrenal cortex carcinoma	Criteria Provided Multiple Submitters No Conflicts	CA000392	rs_28934571	11 SubmittersRCV000013145 RCV000013146 RCV000464372 RCV000579519 RCV000785491 RCV001270276 RCV001562247 RCV004018617 RCV003996089
NM_000546.6(TP53):c.469G>T (p.Val157Phe)	SNV Germline/somatic	Chr17:7675143	Conflicting classifications of pathogenicity	Hepatocellular carcinoma Hereditary cancer-predisposing syndrome Ovarian neoplasm Li-Fraumeni syndrome Li-Fraumeni syndrome 1 Neoplasm Squamous cell carcinoma	Criteria Provided Conflicting Classifications	CA000222	rs_121912654	9 SubmittersRCV000013147 RCV000566103 RCV000785500 RCV000794324 RCV001823095 RCV004668716 RCV003128570
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 Li-Fraumeni syndrome 1 Condition: not provided Familial cancer of breast	Criteria Provided Multiple Submitters No Conflicts	CA000361	rs_121912655	11 SubmittersRCV000013148 RCV000129809 RCV000231770 RCV000785282 RCV002288484 RCV003314552 RCV002247332
NM_000546.6(TP53):c.734G>A (p.Gly245Asp)	SNV Germline/somatic	Chr17:7674229	Pathogenic/Likely pathogenic	Li-Fraumeni syndrome 1 Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Ovarian neoplasm Condition: not provided Adrenocortical carcinoma, hereditary	Criteria Provided Multiple Submitters No Conflicts	CA000371	rs_121912656	9 SubmittersRCV000013149 RCV000164465 RCV000206683 RCV000785472 RCV000986053 RCV003473082
NM_000546.6(TP53):c.743G>A (p.Arg248Gln)	SNV Germline/somatic	Chr17:7674220	Pathogenic	Li-Fraumeni syndrome 1 Hereditary cancer-predisposing syndrome Sarcoma Li-Fraumeni syndrome Condition: not provided Multiple myeloma Neoplasm 11 conditions Lymphoma Ovarian neoplasm Lip and oral cavity carcinoma Rhabdomyosarcoma Familial cancer of breast Breast carcinoma Ductal carcinoma in situ Gastric cancer Malignant tumor of urinary bladder Adrenocortical carcinoma, hereditary Adrenal cortex carcinoma TP53-related disorder Hereditary breast ovarian cancer syndrome Colorectal cancer	Reviewed By Expert Panel	CA000387	rs_11540652	43 SubmittersRCV000013150 RCV000115736 RCV000148913 RCV000197114 RCV000235221 RCV000424869 RCV000426606 RCV000763417 RCV000790860 RCV000785344 RCV001255671 RCV001257519 RCV001270275 RCV001554245 RCV001527465 RCV003162244 RCV003332079 RCV003466852 RCV003996090 RCV004745155 RCV004794335 RCV004813032
NM_000546.6(TP53):c.398T>C (p.Met133Thr)	SNV Germline	Chr17:7675214	Pathogenic	Li-Fraumeni syndrome 1 Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA000158	rs_28934873	5 SubmittersRCV000013151 RCV000492130 RCV001383051 RCV004786255
NM_000546.6(TP53):c.814G>T (p.Val272Leu)	SNV Germline	Chr17:7673806	Pathogenic/Likely pathogenic	Li-Fraumeni syndrome 1 Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome	Criteria Provided Multiple Submitters No Conflicts	CA000430	rs_121912657	5 SubmittersRCV000013152 RCV000164988 RCV001221969
NM_000546.6(TP53):c.722C>T (p.Ser241Phe)	SNV Germline/somatic	Chr17:7674241	Pathogenic/Likely pathogenic	Bone osteosarcoma Hepatoblastoma Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Ovarian neoplasm Lip and oral cavity carcinoma Li-Fraumeni syndrome 1 12 conditions Neoplasm Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA000359	rs_28934573	11 SubmittersRCV000013154 RCV000013153 RCV000130168 RCV000559355 RCV000785290 RCV001255673 RCV002288485 RCV002496336 RCV004668717 RCV003114189
NM_000546.6(TP53):c.844C>T (p.Arg282Trp)	SNV Germline/somatic	Chr17:7673776	Pathogenic/Likely pathogenic	Li-fraumeni-like syndrome Li-Fraumeni syndrome Li-Fraumeni syndrome 1 Condition: not provided Hereditary cancer-predisposing syndrome Squamous cell carcinoma of the head and neck Astrocytoma, anaplastic Pleomorphic xanthoastrocytoma Ovarian neoplasm Colorectal cancer Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype Neoplasm TP53-related disorder Adrenocortical carcinoma, hereditary	Criteria Provided Multiple Submitters No Conflicts	CA000454	rs_28934574	34 SubmittersRCV000013161 RCV000148905 RCV000144670 RCV000236400 RCV000210145 RCV000441472 RCV000722016 RCV000785546 RCV001270278 RCV003315223 RCV004668718 RCV004797589 RCV004566738
NM_000546.6(TP53):c.733G>A (p.Gly245Ser)	SNV Germline/somatic	Chr17:7674230	Pathogenic	Li-fraumeni-like syndrome Adenocarcinoma Condition: not provided Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1 Li-Fraumeni syndrome Atypical teratoid rhabdoid tumor Astrocytoma, anaplastic Ovarian neoplasm Colorectal cancer Familial ovarian cancer Breast carcinoma 12 conditions Gastric cancer Malignant tumor of urinary bladder Adrenocortical carcinoma, hereditary TP53-related disorder See cases	Reviewed By Expert Panel	CA000367	rs_28934575	34 SubmittersRCV000013162 RCV000148909 RCV000154014 RCV000130147 RCV000144669 RCV000226657 RCV000587017 RCV000588736 RCV000785316 RCV001270274 RCV001354825 RCV001642222 RCV002496337 RCV003162245 RCV003332080 RCV003460464 RCV003914832 RCV004797759
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 Lung adenocarcinoma Neoplasm Li-Fraumeni syndrome Ovarian neoplasm Rhabdomyosarcoma Malignant tumor of breast Multiple myeloma Colorectal cancer Familial cancer of breast 12 conditions Gastric cancer Breast and/or ovarian cancer Adrenocortical carcinoma, hereditary TP53-related disorder	Reviewed By Expert Panel	CA000434	rs_28934576	36 SubmittersRCV000013163 RCV000013164 RCV000115738 RCV000254693 RCV000422097 RCV000431361 RCV000441169 RCV000463420 RCV000785345 RCV001257517 RCV001358389 RCV001527470 RCV001527484 RCV002476955 RCV003162246 RCV003492292 RCV003466853 RCV004797590
NM_000546.6(TP53):c.974G>T (p.Gly325Val)	SNV Germline	Chr17:7673554	Conflicting classifications of pathogenicity	Non-Hodgkin lymphoma Familial colorectal cancer Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA000516	rs_121912659	8 SubmittersRCV000013165 RCV000013166 RCV000131411 RCV000232570 RCV001508433
NM_000546.6(TP53):c.839G>C (p.Arg280Thr)	SNV Germline/somatic	Chr17:7673781	Pathogenic/Likely pathogenic	Nasopharyngeal carcinoma Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Malignant tumor of urinary bladder Acute myeloid leukemia Li-Fraumeni syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA000445	rs_121912660	6 SubmittersRCV000013167 RCV000198779 RCV002433452 RCV003332081 RCV000423074 RCV004018618
NM_000546.6(TP53):c.451C>A (p.Pro151Thr)	SNV Germline/somatic	Chr17:7675161	Pathogenic/Likely pathogenic	Breast adenocarcinoma Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Condition: not provided Rhabdomyosarcoma Li-Fraumeni syndrome 1 Adrenocortical carcinoma, hereditary	Criteria Provided Multiple Submitters No Conflicts	CA000198	rs_28934874	8 SubmittersRCV000013168 RCV000130617 RCV000691152 RCV000520731 RCV001257524 RCV002288486 RCV004566739
NM_000546.6(TP53):c.451C>T (p.Pro151Ser)	SNV Germline/somatic	Chr17:7675161	Pathogenic/Likely pathogenic	Breast adenocarcinoma Condition: not provided Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Ovarian neoplasm Rhabdomyosarcoma Li-Fraumeni syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA000200	rs_28934874	8 SubmittersRCV000013169 RCV000079203 RCV000219702 RCV000633355 RCV000785532 RCV001257523 RCV002288487
NM_000546.6(TP53):c.770T>A (p.Leu257Gln)	SNV Germline/somatic	Chr17:7674193	Conflicting classifications of pathogenicity	Li-fraumeni-like syndrome Li-Fraumeni syndrome Ovarian neoplasm Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA000402	rs_28934577	4 SubmittersRCV000013171 RCV000469142 RCV000785553 RCV002399320
NM_000546.6(TP53):c.524G>A (p.Arg175His)	SNV Germline/somatic	Chr17:7675088	Pathogenic	Li-Fraumeni syndrome 1 Hereditary cancer-predisposing syndrome Malignant tumor of esophagus Condition: not provided Li-Fraumeni syndrome Neoplasm Ovarian neoplasm Lip and oral cavity carcinoma Squamous cell carcinoma of the head and neck Familial cancer of breast Colorectal cancer 12 conditions Adrenocortical carcinoma, hereditary Gastric cancer TP53-related disorder	Reviewed By Expert Panel	CA000251	rs_28934578	31 SubmittersRCV000013173 RCV000131301 RCV000239398 RCV000213054 RCV000204931 RCV000421746 RCV000785352 RCV001255668 RCV001270268 RCV001527463 RCV001270269 RCV002476956 RCV003466854 RCV003162247 RCV004797760
NM_000546.6(TP53):c.1031T>C (p.Leu344Pro)	SNV Germline/somatic	Chr17:7670678	Likely pathogenic	Li-Fraumeni syndrome 1 Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Adrenal cortex carcinoma Adrenocortical carcinoma, hereditary	Reviewed By Expert Panel	CA000021	rs_121912662	6 SubmittersRCV000013174 RCV000991141 RCV002390102 RCV003996091 RCV003473083
NM_000546.6(TP53):c.412G>C (p.Ala138Pro)	SNV Germline	Chr17:7675200	Pathogenic/Likely pathogenic	Li-Fraumeni syndrome 1 Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA000166	rs_28934875	4 SubmittersRCV000013175 RCV000461233 RCV002326677 RCV004719641
NM_000546.6(TP53):c.1010G>A (p.Arg337His)	SNV Germline	Chr17:7670699	Pathogenic/Likely pathogenic	ADRENOCORTICAL CARCINOMA, PEDIATRIC Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Breast neoplasm Li-Fraumeni syndrome 1 Condition: not provided Squamous cell carcinoma of the head and neck Hereditary breast ovarian cancer syndrome Adrenocortical carcinoma, hereditary 12 conditions Gastric cancer TP53-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA000013	rs_121912664	24 SubmittersRCV000013178 RCV000128923 RCV000197240 RCV000413754 RCV000576817 RCV000481814 RCV000989700 RCV002307364 RCV001375632 RCV002496338 RCV003162248 RCV004797591
NM_000546.6(TP53):c.566C>T (p.Ala189Val)	SNV Germline	Chr17:7674965	Conflicting classifications of pathogenicity	Familial colorectal cancer Li-Fraumeni syndrome 1 Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Hereditary breast ovarian cancer syndrome not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA000270	rs_121912665	12 SubmittersRCV000013182 RCV000144671 RCV000132058 RCV000536677 RCV001030736 RCV001192620 RCV003476892
NM_000546.6(TP53):c.659A>C (p.Tyr220Ser)	SNV Germline/somatic	Chr17:7674872	Pathogenic	Li-Fraumeni syndrome 1 Li-Fraumeni syndrome Ovarian neoplasm Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA000314	rs_121912666	6 SubmittersRCV000013183 RCV000472593 RCV000785481 RCV003162249 RCV004719642
NM_000546.6(TP53):c.854A>T (p.Glu285Val)	SNV Germline	Chr17:7673766	Pathogenic	ADRENOCORTICAL CARCINOMA, PEDIATRIC Choroid plexus carcinoma Li-Fraumeni syndrome	Criteria Provided Single Submitter	CA000463	rs_121912667	2 SubmittersRCV000013184 RCV000013185 RCV000813961
NM_000546.6(TP53):c.*1175A>C	SNV Germline	Chr17:7668434	Conflicting classifications of pathogenicity	Basal cell carcinoma, susceptibility to, 7 Li-Fraumeni syndrome 1 Hereditary cancer-predisposing syndrome Condition: not provided TP53-related disorder	Criteria Provided Conflicting Classifications	CA000049	rs_78378222	7 SubmittersRCV000029217 RCV000412103 RCV000492363 RCV002262575 RCV003914864
NM_000546.6(TP53):c.542G>T (p.Arg181Leu)	SNV Germline	Chr17:7675070	Conflicting classifications of pathogenicity	Glioma susceptibility 1 Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA000262	rs_397514495	4 SubmittersRCV000032610 RCV000692266 RCV004786286
NM_000546.6(TP53):c.31G>C (p.Glu11Gln)	SNV Germline	Chr17:7676564	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome not specified Li-Fraumeni syndrome Hereditary breast ovarian cancer syndrome Li-Fraumeni syndrome 1 TP53-related disorder	Criteria Provided Conflicting Classifications	CA000106	rs_201382018	15 SubmittersRCV000034640 RCV000161016 RCV000213044 RCV000226569 RCV001030742 RCV001124310 RCV003924896
NM_000546.6(TP53):c.1040C>A (p.Ala347Asp)	SNV Germline	Chr17:7670669	Pathogenic	not specified Condition: not provided Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1	Reviewed By Expert Panel	CA000022	rs_397516434	7 SubmittersRCV000036529 RCV000255021 RCV000468537 RCV000492626 RCV003315555
NM_000546.6(TP53):c.586C>T (p.Arg196Ter)	SNV Germline/somatic	Chr17:7674945	Pathogenic	Condition: not provided Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome not specified TP53-related disorder Ovarian neoplasm Li-Fraumeni syndrome 1 Adrenocortical carcinoma, hereditary	Criteria Provided Multiple Submitters No Conflicts	CA000282	rs_397516435	20 SubmittersRCV000412710 RCV000131510 RCV000205265 RCV001527464 RCV004797592 RCV000785329 RCV002288535 RCV003473274
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	Criteria Provided Multiple Submitters No Conflicts	CA000301	rs_397516436	15 SubmittersRCV000036532 RCV000115730 RCV000144672 RCV000213050 RCV000785330 RCV001270263 RCV001270264 RCV001270265 RCV004797593
NM_000546.6(TP53):c.817C>T (p.Arg273Cys)	SNV Germline/somatic	Chr17:7673803	Pathogenic/Likely pathogenic	Li-Fraumeni syndrome 1 Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Malignant tumor of prostate Condition: not provided Neoplasm Ovarian neoplasm Adrenocortical carcinoma, hereditary Multiple myeloma TP53-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA000432	rs_121913343	23 SubmittersRCV000144665 RCV000131966 RCV000205625 RCV000149051 RCV000254692 RCV000431786 RCV000785470 RCV003466889 RCV004595896 RCV004745172
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 Breast and/or ovarian cancer Li-Fraumeni syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA000500	rs_397516439	10 SubmittersRCV000036537 RCV000132190 RCV000483617 RCV000785489 RCV001798102 RCV002288536
NM_000546.6(TP53):c.672G>A (p.Glu224=)	SNV Germline	Chr17:7674859	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Condition: not provided Li-Fraumeni syndrome Li-Fraumeni syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA000328	rs_267605076	5 SubmittersRCV000567974 RCV000786830 RCV000800846 RCV002288559
NM_000546.6(TP53):c.892G>T (p.Glu298Ter)	SNV Germline/somatic	Chr17:7673728	Pathogenic	Condition: not provided Hereditary cancer-predisposing syndrome Ovarian neoplasm Li-Fraumeni syndrome Rhabdomyosarcoma Li-Fraumeni syndrome 1 Neoplasm	Reviewed By Expert Panel	CA000484	rs_201744589	9 SubmittersRCV000079204 RCV000216964 RCV000785528 RCV000559898 RCV001257516 RCV004019532 RCV004668772
NM_000546.6(TP53):c.587G>T (p.Arg196Leu)	SNV Germline/somatic	Chr17:7674944	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1 Li-Fraumeni syndrome	Criteria Provided Conflicting Classifications	CA000284	rs_483352697	5 SubmittersRCV000087172 RCV001024636 RCV001523825 RCV002514536
NM_000546.6(TP53):c.736A>G (p.Met246Val)	SNV Germline/somatic	Chr17:7674227	Pathogenic/Likely pathogenic	Condition: not provided Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Ovarian neoplasm Li-Fraumeni syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA000374	rs_483352695	7 SubmittersRCV000087173 RCV000161036 RCV000460370 RCV000785556 RCV002288585
NM_007194.4(CHEK2):c.1336A>G (p.Asn446Asp)	SNV Germline	Chr22:28695166	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Familial cancer of breast Malignant tumor of prostate Li-Fraumeni syndrome 2 Bone osteosarcoma Malignant tumor of breast Breast and/or ovarian cancer CHEK2-related cancer predisposition Condition: not provided not specified Familial cancer of breast	Criteria Provided Conflicting Classifications	CA230682	rs_121908705	16 SubmittersRCV000449435 RCV000515378 RCV001356532 RCV001798305 RCV004556718 RCV000114765 RCV000160437 RCV000196666
NM_007194.4(CHEK2):c.1421G>A (p.Arg474His)	SNV Germline	Chr22:28694072	Conflicting classifications of pathogenicity	Li-Fraumeni syndrome 2 Breast and/or ovarian cancer not specified CHEK2-related disorder Hereditary breast ovarian cancer syndrome Condition: not provided Hereditary cancer-predisposing syndrome Familial cancer of breast	Criteria Provided Conflicting Classifications	CA230684	rs_121908706	19 SubmittersRCV003387763 RCV003492448 RCV004700414 RCV004737196 RCV004804112 RCV000114766 RCV000116000 RCV000206096
NM_000546.6(TP53):c.173C>G (p.Pro58Arg)	SNV Germline	Chr17:7676196	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome not specified Condition: not provided Li-Fraumeni syndrome 1 Li-Fraumeni syndrome Breast and/or ovarian cancer TP53-related disorder	Criteria Provided Conflicting Classifications	CA000061	rs_144386518	13 SubmittersRCV000115715 RCV000122181 RCV000586104 RCV000662515 RCV001086750 RCV003492489 RCV003952551
NM_000546.6(TP53):c.248C>T (p.Ala83Val)	SNV Germline	Chr17:7676121	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1 Condition: not provided Li-Fraumeni syndrome not specified TP53-related disorder	Criteria Provided Conflicting Classifications	CA000083	rs_201717599	10 SubmittersRCV000115716 RCV000409540 RCV000679367 RCV001082818 RCV001796963 RCV003891612
NM_000546.6(TP53):c.466C>T (p.Arg156Cys)	SNV Germline	Chr17:7675146	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Li-Fraumeni syndrome Li-Fraumeni syndrome 1 11 conditions not specified Adrenocortical carcinoma, hereditary	Criteria Provided Conflicting Classifications	CA000214	rs_563378859	12 SubmittersRCV000115721 RCV000213051 RCV000232885 RCV000409094 RCV000764146 RCV002465516 RCV003467058
NM_000546.6(TP53):c.472C>T (p.Arg158Cys)	SNV Germline/somatic	Chr17:7675140	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Li-Fraumeni syndrome Lip and oral cavity carcinoma Li-Fraumeni syndrome 1 Hereditary breast ovarian cancer syndrome	Criteria Provided Conflicting Classifications	CA000225	rs_587780068	12 SubmittersRCV000115723 RCV000508084 RCV000533951 RCV001255633 RCV002288596 RCV003483477
NM_000546.6(TP53):c.485T>G (p.Ile162Ser)	SNV Germline	Chr17:7675127	Conflicting classifications of pathogenicity	Condition: not provided Li-Fraumeni syndrome	Criteria Provided Conflicting Classifications	CA000237	rs_587780069	3 SubmittersRCV000115724 RCV003621502
NM_000546.6(TP53):c.488A>G (p.Tyr163Cys)	SNV Germline/somatic	Chr17:7675124	Pathogenic	Condition: not provided Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Ovarian neoplasm Li-Fraumeni syndrome 1	Reviewed By Expert Panel	CA000240	rs_148924904	6 SubmittersRCV000115725 RCV000492788 RCV000526324 RCV000785334 RCV004019613
NM_000546.6(TP53):c.535C>T (p.His179Tyr)	SNV Germline/somatic	Chr17:7675077	Pathogenic/Likely pathogenic	Condition: not provided Adrenocortical carcinoma, hereditary Hereditary cancer-predisposing syndrome Neoplasm Li-Fraumeni syndrome Li-Fraumeni syndrome 1 Ovarian neoplasm	Criteria Provided Multiple Submitters No Conflicts	CA000256	rs_587780070	9 SubmittersRCV000115726 RCV003460828 RCV002288597 RCV004668781 RCV000555493 RCV000663095 RCV000785312
NM_000546.6(TP53):c.580C>T (p.Leu194Phe)	SNV Germline/somatic	Chr17:7674951	Pathogenic/Likely pathogenic	Condition: not provided Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1 Adrenal cortex carcinoma	Criteria Provided Multiple Submitters No Conflicts	CA000278	rs_587780071	6 SubmittersRCV000115728 RCV001377420 RCV002288599 RCV002288598 RCV003997297
NM_000546.6(TP53):c.604C>T (p.Arg202Cys)	SNV Germline	Chr17:7674927	Conflicting classifications of pathogenicity	Condition: not provided Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1 TP53-related disorder Adrenocortical carcinoma, hereditary	Criteria Provided Conflicting Classifications	CA000288	rs_587780072	12 SubmittersRCV000115729 RCV000473040 RCV000563913 RCV001257499 RCV004724809 RCV004567015
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 Adrenocortical carcinoma, hereditary TP53-related disorder Adrenal cortex carcinoma Neoplasm	Reviewed By Expert Panel	CA000315	rs_121912666	27 SubmittersRCV000115731 RCV000213055 RCV000232050 RCV000433936 RCV000785544 RCV001310212 RCV001579295 RCV001527468 RCV002490776 RCV003162539 RCV003460829 RCV003407499 RCV003997298 RCV004668782
NM_000546.6(TP53):c.701A>G (p.Tyr234Cys)	SNV Germline/somatic	Chr17:7674262	Pathogenic/Likely pathogenic	Condition: not provided Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Ovarian neoplasm Li-Fraumeni syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA000337	rs_587780073	9 SubmittersRCV000115732 RCV000200601 RCV000492245 RCV000785536 RCV001808343
NM_000546.6(TP53):c.737T>G (p.Met246Arg)	SNV Germline	Chr17:7674226	Conflicting classifications of pathogenicity	Condition: not provided Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA000376	rs_587780074	3 SubmittersRCV000115734 RCV001344441 RCV002381420
NM_000546.6(TP53):c.91G>A (p.Val31Ile)	SNV Germline	Chr17:7676387	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome not specified Li-Fraumeni syndrome Li-Fraumeni syndrome 1 Condition: not provided Hereditary breast ovarian cancer syndrome Breast and/or ovarian cancer TP53-related disorder	Criteria Provided Conflicting Classifications	CA357868	rs_201753350	16 SubmittersRCV000115742 RCV000122173 RCV000123100 RCV000409871 RCV000586196 RCV001030741 RCV003492490 RCV003945046
NM_007194.4(CHEK2):c.-6G>A	SNV Germline	Chr22:28734727	Conflicting classifications of pathogenicity	Familial cancer of breast Condition: not provided Hereditary cancer-predisposing syndrome not specified Malignant tumor of breast Familial cancer of breast Bone osteosarcoma Malignant tumor of prostate Li-Fraumeni syndrome 2 Colorectal cancer CHEK2-related disorder	Criteria Provided Conflicting Classifications	CA288250	rs_376995740	10 SubmittersRCV000197200 RCV000590166 RCV000776065 RCV000722128 RCV001357979 RCV003224152 RCV004542827
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 Malignant tumor of breast Familial cancer of breast Lung cancer Ovarian neoplasm Familial cancer of breast Bone osteosarcoma Malignant tumor of prostate Li-Fraumeni syndrome 2 Colorectal cancer Bone osteosarcoma CHEK2-related disorder	Criteria Provided Conflicting Classifications	CA288254	rs_531398630	18 SubmittersRCV000115982 RCV000197709 RCV000212449 RCV000656834 RCV000677873 RCV001030625 RCV001355387 RCV001527478 RCV002477284 RCV003448266 RCV004529939
NM_007194.4(CHEK2):c.1215C>A (p.Asn405Lys)	SNV Germline	Chr22:28695754	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome Familial cancer of breast Li-Fraumeni syndrome 2 Malignant tumor of prostate Familial cancer of breast Bone osteosarcoma Hereditary breast ovarian cancer syndrome	Criteria Provided Conflicting Classifications	CA288266	rs_587780171	11 SubmittersRCV000115989 RCV000219945 RCV000199599 RCV000764373 RCV004764764
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 Familial cancer of breast Bone osteosarcoma Malignant tumor of prostate Li-Fraumeni syndrome 2 Condition: not provided not specified Malignant tumor of breast Breast and/or ovarian cancer CHEK2-related disorder CHEK2-related cancer predisposition Hereditary breast ovarian cancer syndrome	Criteria Provided Conflicting Classifications	CA288272	rs_139366548	25 SubmittersRCV000115993 RCV000197909 RCV000515214 RCV000590008 RCV001175351 RCV001355460 RCV003492501 RCV004528802 RCV004556723 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 Familial cancer of breast Bone osteosarcoma Malignant tumor of prostate Li-Fraumeni syndrome 2 Condition: not provided Malignant tumor of breast Li-Fraumeni syndrome 2 Carcinoma of colon Breast and/or ovarian cancer Hereditary cancer Hereditary breast ovarian cancer syndrome CHEK2-related cancer predisposition CHEK2-related disorder	Criteria Provided Conflicting Classifications	CA151527	rs_200050883	33 SubmittersRCV000115996 RCV000199565 RCV000200982 RCV000515311 RCV000587890 RCV001269492 RCV001294021 RCV001356041 RCV001798350 RCV003492502 RCV003483481 RCV004556724 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 Familial cancer of breast Malignant tumor of prostate Carcinoma of colon Lung carcinoma Condition: not provided Familial cancer of breast Bone osteosarcoma Malignant tumor of prostate Li-Fraumeni syndrome 2 not specified Li-Fraumeni syndrome 2	Criteria Provided Conflicting Classifications	CA288280	rs_540635787	18 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 Colorectal cancer Breast neoplasm not specified Colon cancer Breast carcinoma Malignant tumor of breast Breast and/or ovarian cancer Li-Fraumeni syndrome 2 CHEK2-related disorder Familial prostate cancer Familial cancer of breast CHEK2-related cancer predisposition	Criteria Provided Conflicting Classifications	CA288282	rs_142763740	46 SubmittersRCV000116001 RCV000198554 RCV000212465 RCV000210077 RCV000259876 RCV000317389 RCV000499890 RCV001564016 RCV001572627 RCV001357877 RCV001798351 RCV003444200 RCV004528804 RCV004820830 RCV004556725
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 Familial cancer of breast Bone osteosarcoma Malignant tumor of prostate Li-Fraumeni syndrome 2 not specified Familial cancer of breast Malignant tumor of prostate Colorectal cancer CHEK2-related disorder	Criteria Provided Conflicting Classifications	CA288288	rs_587780179	14 SubmittersRCV000116004 RCV000200569 RCV000212472 RCV000764368 RCV000781300 RCV003483482 RCV004528805
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 Breast and/or ovarian cancer Li-Fraumeni syndrome 2 Gastric cancer Familial cancer of breast Familial prostate cancer Li-Fraumeni syndrome 2 Bone osteosarcoma Familial prostate cancer	Criteria Provided Multiple Submitters No Conflicts	CA288290	rs_200432447	20 SubmittersRCV000116005 RCV000210124 RCV000212474 RCV000471222 RCV000589100 RCV001798352 RCV001705822 RCV003162543 RCV004819219 RCV004796022
NM_007194.4(CHEK2):c.1556G>T (p.Arg519Leu)	SNV Germline	Chr22:28687973	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Familial cancer of breast not specified Familial cancer of breast Bone osteosarcoma Malignant tumor of prostate Li-Fraumeni syndrome 2 Condition: not provided Malignant tumor of breast Breast and/or ovarian cancer Predisposition to cancer CHEK2-related disorder Hereditary cancer	Criteria Provided Conflicting Classifications	CA288294	rs_587780180	28 SubmittersRCV000116007 RCV000198277 RCV000212476 RCV000515321 RCV000586195 RCV001357730 RCV001798353 RCV002291560 RCV004529941 RCV003492503
NM_007194.4(CHEK2):c.190G>A (p.Glu64Lys)	SNV Germline	Chr22:28734532	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Familial cancer of breast Condition: not provided Breast and colorectal cancer, susceptibility to Malignant tumor of breast Breast and/or ovarian cancer not specified Hereditary breast ovarian cancer syndrome Predisposition to cancer Li-Fraumeni syndrome 2 CHEK2-related disorder CHEK2-related cancer predisposition	Criteria Provided Conflicting Classifications	CA288298	rs_141568342	35 SubmittersRCV000116009 RCV000199067 RCV000212407 RCV000210191 RCV001356247 RCV001270935 RCV002465520 RCV002265610 RCV003153376 RCV003338414 RCV004528806 RCV004556726
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 Familial cancer of breast Li-Fraumeni syndrome 2 Breast and/or ovarian cancer CHEK2-related disorder Hereditary cancer CHEK2-related cancer predisposition	Criteria Provided Conflicting Classifications	CA231722	rs_121908700	22 SubmittersRCV000116011 RCV000119289 RCV000195943 RCV000212412 RCV001171460 RCV001798354 RCV004528807 RCV003492504 RCV004556727
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 Prostate cancer susceptibility Breast cancer, susceptibility to Malignant tumor of breast Hereditary breast ovarian cancer syndrome Predisposition to cancer Li-Fraumeni syndrome 2 Breast and/or ovarian cancer Li-Fraumeni syndrome 2 Colorectal cancer Familial cancer of breast Bone osteosarcoma Malignant tumor of prostate CHEK2-related disorder CHEK2-related cancer predisposition	Criteria Provided Multiple Submitters No Conflicts	CA288301	rs_28909982	42 SubmittersRCV000116012 RCV000204429 RCV000212414 RCV001258041 RCV001263516 RCV001374534 RCV001526815 RCV001787918 RCV001798355 RCV002498498 RCV003114263 RCV004556728
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 Li-Fraumeni syndrome 2 Familial cancer of breast Bone osteosarcoma Malignant tumor of prostate Li-Fraumeni syndrome 2 Familial cancer of breast Breast and/or ovarian cancer Malignant tumor of breast Breast carcinoma Li-Fraumeni syndrome 2 Colorectal cancer Endometrial carcinoma Melanoma TUMOR PREDISPOSITION SYNDROME 4, BREAST/PROSTATE CHEK2-related disorder CHEK2-related cancer predisposition Inherited breast cancer and ovarian cancer	Criteria Provided Multiple Submitters No Conflicts	CA288309	rs_121908698	51 SubmittersRCV000116017 RCV000196718 RCV000210090 RCV000212418 RCV000501923 RCV000763475 RCV001171461 RCV001270936 RCV001354639 RCV001554253 RCV001705823 RCV002463642 RCV003128145 RCV002508922 RCV003333693 RCV004737199 RCV004556730 RCV004772840
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 Li-Fraumeni syndrome 2 Predisposition to cancer	Criteria Provided Conflicting Classifications	CA288310	rs_72552323	8 SubmittersRCV000116019 RCV000464571 RCV000766748 RCV001292859 RCV003444201
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 Li-Fraumeni syndrome 2 CHEK2-related cancer predisposition CHEK2-related disorder	Criteria Provided Conflicting Classifications	CA288312	rs_575910805	21 SubmittersRCV000116020 RCV000586231 RCV001005035 RCV001549277 RCV001798357 RCV003387765 RCV004556731 RCV004529942
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 Hereditary breast ovarian cancer syndrome Li-Fraumeni syndrome 2 Colonic neoplasm not specified CHEK2-related cancer predisposition Inherited breast cancer and ovarian cancer	Criteria Provided Conflicting Classifications	CA288331	rs_587780192	19 SubmittersRCV000116033 RCV000212440 RCV000228767 RCV001355901 RCV001391209 RCV001192409 RCV001251038 RCV001579302 RCV003320458 RCV004556733 RCV004584194
NM_007194.4(CHEK2):c.58C>T (p.Gln20Ter)	SNV Germline	Chr22:28734664	Conflicting classifications of pathogenicity	not specified Condition: not provided Familial cancer of breast Hereditary cancer-predisposing syndrome Familial ovarian cancer Breast carcinoma Li-Fraumeni syndrome 2 Inherited breast cancer and ovarian cancer Li-Fraumeni syndrome 2 Familial cancer of breast Bone osteosarcoma Familial prostate cancer	Criteria Provided Conflicting Classifications	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 Familial cancer of breast Bone osteosarcoma Malignant tumor of prostate Li-Fraumeni syndrome 2 Condition: not provided CHEK2-related cancer predisposition	Criteria Provided Conflicting Classifications	CA158095	rs_371657037	12 SubmittersRCV000120553 RCV000132037 RCV000231176 RCV000765627 RCV000766741 RCV004556735
NM_000546.6(TP53):c.605G>A (p.Arg202His)	SNV Germline	Chr17:7674926	Conflicting classifications of pathogenicity	not specified Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Malignant tumor of breast	Criteria Provided Conflicting Classifications	CA000289	rs_587778719	7 SubmittersRCV000122175 RCV000459232 RCV000567735 RCV001030735 RCV001358628
NM_000546.6(TP53):c.638G>A (p.Arg213Gln)	SNV Germline/somatic	Chr17:7674893	Pathogenic/Likely pathogenic	not specified Li-Fraumeni syndrome Li-Fraumeni syndrome 1 Hereditary cancer-predisposing syndrome Condition: not provided Poly (ADP-Ribose) polymerase inhibitor response Lip and oral cavity carcinoma Breast and/or ovarian cancer Adrenocortical carcinoma, hereditary TP53-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA000302	rs_587778720	25 SubmittersRCV000122176 RCV000123099 RCV000144664 RCV000130072 RCV000420734 RCV000626448 RCV001255672 RCV001798386 RCV003460862 RCV004745203
NM_007194.4(CHEK2):c.283C>T (p.Arg95Ter)	SNV Germline	Chr22:28734439	Pathogenic	Hereditary cancer-predisposing syndrome Condition: not provided Familial cancer of breast not specified Malignant tumor of breast Hereditary breast ovarian cancer syndrome Li-Fraumeni syndrome 2 Bone osteosarcoma Colorectal cancer Familial cancer of breast Malignant tumor of prostate Gastric cancer CHEK2-related disorder CHEK2-related cancer predisposition	Criteria Provided Multiple Submitters No Conflicts	CA163528	rs_587781269	21 SubmittersRCV000128901 RCV000215973 RCV000232015 RCV001002335 RCV001354537 RCV002225419 RCV002505102 RCV003162571 RCV004737213 RCV004556738
NM_000546.6(TP53):c.422G>A (p.Cys141Tyr)	SNV Germline/somatic	Chr17:7675190	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Li-Fraumeni syndrome 1 Neoplasm Ovarian neoplasm Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA000174	rs_587781288	7 SubmittersRCV000128975 RCV000472876 RCV002288619 RCV004668787 RCV000785510 RCV001582600
NM_000546.6(TP53):c.844C>G (p.Arg282Gly)	SNV Germline/somatic	Chr17:7673776	Pathogenic	Hereditary cancer-predisposing syndrome Ovarian neoplasm Li-Fraumeni syndrome 1 Condition: not provided Li-Fraumeni syndrome	Criteria Provided Multiple Submitters No Conflicts	CA000453	rs_28934574	6 SubmittersRCV000129010 RCV000785299 RCV002288620 RCV004719707 RCV001380073
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 Bone osteosarcoma Malignant tumor of prostate Li-Fraumeni syndrome 2 Hereditary breast ovarian cancer syndrome not specified	Criteria Provided Conflicting Classifications	CA163957	rs_587781379	11 SubmittersRCV000129204 RCV000214585 RCV000227256 RCV000765620 RCV001030685 RCV001201286
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 Li-Fraumeni syndrome 2 not specified CHEK2-related disorder	Criteria Provided Conflicting Classifications	CA294007	rs_141776984	12 SubmittersRCV000129205 RCV000205087 RCV000590667 RCV001292616 RCV001731481 RCV004737215
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 Familial cancer of breast Bone osteosarcoma Malignant tumor of prostate Li-Fraumeni syndrome 2 Colorectal cancer CHEK2-related disorder	Criteria Provided Conflicting Classifications	CA294010	rs_564605612	15 SubmittersRCV000129213 RCV000206213 RCV000212468 RCV000590757 RCV001798435 RCV002478384 RCV004528849
NM_000546.6(TP53):c.642T>G (p.His214Gln)	SNV Germline	Chr17:7674889	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Li-Fraumeni syndrome 1 Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA000305	rs_587781386	10 SubmittersRCV000129218 RCV000195927 RCV000410083 RCV001283869 RCV002267869
NM_007194.4(CHEK2):c.1423T>A (p.Phe475Ile)	SNV Germline	Chr22:28694070	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Familial cancer of breast not specified Malignant tumor of breast Familial cancer of breast Bone osteosarcoma Malignant tumor of prostate Li-Fraumeni syndrome 2 Colorectal cancer CHEK2-related disorder Hereditary breast ovarian cancer syndrome	Criteria Provided Conflicting Classifications	CA294041	rs_370968992	16 SubmittersRCV000129382 RCV000212464 RCV000206734 RCV000781308 RCV001356630 RCV002483259 RCV004528850 RCV004760388
NM_000546.6(TP53):c.358A>G (p.Lys120Glu)	SNV Germline/somatic	Chr17:7676011	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Li-Fraumeni syndrome Ovarian neoplasm Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA000130	rs_121912658	5 SubmittersRCV000129457 RCV000213049 RCV000696142 RCV000785522 RCV004019730
NM_000546.6(TP53):c.314G>A (p.Gly105Asp)	SNV Germline	Chr17:7676055	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Li-Fraumeni syndrome Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA000102	rs_587781504	6 SubmittersRCV000129479 RCV000201000 RCV000228756 RCV002288625
NM_007194.4(CHEK2):c.1175C>T (p.Ala392Val)	SNV Germline	Chr22:28695794	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Familial cancer of breast Li-Fraumeni syndrome 2 Hereditary breast ovarian cancer syndrome not specified Malignant tumor of breast	Criteria Provided Conflicting Classifications	CA164560	rs_373073383	15 SubmittersRCV000129508 RCV000589481 RCV000206654 RCV003493452 RCV003483495 RCV001175352 RCV001357703
NM_000546.6(TP53):c.842A>G (p.Asp281Gly)	SNV Germline	Chr17:7673778	Pathogenic	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Li-Fraumeni syndrome 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA000450	rs_587781525	6 SubmittersRCV000129516 RCV000633367 RCV002288626 RCV003237737
NM_000546.6(TP53):c.337T>G (p.Phe113Val)	SNV Germline	Chr17:7676032	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA000124	rs_587781642	4 SubmittersRCV000129770 RCV000633376 RCV002288629
NM_000546.6(TP53):c.1082G>A (p.Gly361Glu)	SNV Germline	Chr17:7670627	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1 not specified Condition: not provided Li-Fraumeni syndrome	Criteria Provided Conflicting Classifications	CA000032	rs_587781663	7 SubmittersRCV000129812 RCV002288630 RCV000581885 RCV001753512 RCV002512534
NM_000546.6(TP53):c.1101-2A>G	SNV Germline/somatic	Chr17:7669692	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Condition: not provided Li-Fraumeni syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA000038	rs_587781664	6 SubmittersRCV000129814 RCV000206779 RCV000213070 RCV002288631
NM_000546.6(TP53):c.920-1G>A	SNV Germline/somatic	Chr17:7673609	Pathogenic	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Condition: not provided Ovarian neoplasm Li-Fraumeni syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA000499	rs_587781702	7 SubmittersRCV000129871 RCV001235868 RCV000421521 RCV000785548 RCV002288632
NM_007194.4(CHEK2):c.216T>G (p.Tyr72Ter)	SNV Germline	Chr22:28734506	Pathogenic	Hereditary cancer-predisposing syndrome Familial cancer of breast Li-Fraumeni syndrome 2 Bone osteosarcoma Familial cancer of breast Malignant tumor of prostate Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA165273	rs_587781705	6 SubmittersRCV000129876 RCV001247758 RCV000763478 RCV004998264
NM_000546.6(TP53):c.125A>G (p.Asp42Gly)	SNV Germline	Chr17:7676244	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA000052	rs_587781767	3 SubmittersRCV000129995 RCV002288633
NM_000546.6(TP53):c.1120G>A (p.Gly374Ser)	SNV Germline	Chr17:7669671	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Adrenocortical carcinoma, hereditary	Criteria Provided Conflicting Classifications	CA000040	rs_587781858	4 SubmittersRCV000130166 RCV001313040 RCV003474760
NM_000546.6(TP53):c.404G>A (p.Cys135Tyr)	SNV Germline	Chr17:7675208	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Li-Fraumeni syndrome Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA000160	rs_587781991	6 SubmittersRCV000130396 RCV000581322 RCV001069143 RCV004019738
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	Criteria Provided Multiple Submitters No Conflicts	CA000423	rs_55832599	19 SubmittersRCV000130398 RCV000413074 RCV000538977 RCV000763416 RCV001255676 RCV002247507 RCV002288637 RCV003149899 RCV003460927 RCV004797597
NM_000546.6(TP53):c.859G>A (p.Glu287Lys)	SNV Germline	Chr17:7673761	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA000466	rs_587782006	3 SubmittersRCV000130426 RCV000813960 RCV002288638
NM_007194.4(CHEK2):c.1169A>C (p.Tyr390Ser)	SNV Germline	Chr22:28695800	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Condition: not provided Familial cancer of breast Premature ovarian failure Hereditary breast ovarian cancer syndrome Malignant tumor of breast Malignant tumor of prostate Li-Fraumeni syndrome 2	Criteria Provided Multiple Submitters No Conflicts	CA166521	rs_200928781	15 SubmittersRCV000130486 RCV000222009 RCV000206869 RCV001270242 RCV001175336 RCV001355927 RCV001787089 RCV003448269
NM_007194.4(CHEK2):c.1534C>G (p.Leu512Val)	SNV Germline	Chr22:28689143	Conflicting classifications of pathogenicity	Familial cancer of breast Condition: not provided Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 2 Bone osteosarcoma Familial cancer of breast Malignant tumor of prostate not specified	Criteria Provided Conflicting Classifications	CA166627	rs_17882942	10 SubmittersRCV000197078 RCV000587712 RCV000130543 RCV000764367 RCV004782245
NM_000546.6(TP53):c.745A>T (p.Arg249Trp)	SNV Germline	Chr17:7674218	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Condition: not provided Adrenocortical carcinoma, hereditary Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA000389	rs_587782082	5 SubmittersRCV000130578 RCV002514731 RCV003237740 RCV003460931 RCV004019741
NM_000546.6(TP53):c.248C>A (p.Ala83Glu)	SNV Germline	Chr17:7676121	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1 Li-Fraumeni syndrome	Criteria Provided Conflicting Classifications	CA000082	rs_201717599	3 SubmittersRCV000130694 RCV002288640 RCV001303642
NM_000546.6(TP53):c.473G>A (p.Arg158His)	SNV Germline	Chr17:7675139	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Condition: not provided Li-Fraumeni syndrome Li-Fraumeni syndrome 1 Rhabdomyosarcoma Adrenocortical carcinoma, hereditary Breast and/or ovarian cancer 12 conditions TP53-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA000227	rs_587782144	26 SubmittersRCV000130708 RCV000255654 RCV000227859 RCV000496787 RCV001257522 RCV003461996 RCV003492603 RCV004796030 RCV004797598
NM_000546.6(TP53):c.256G>A (p.Ala86Thr)	SNV Germline	Chr17:7676113	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Li-Fraumeni syndrome not specified	Criteria Provided Conflicting Classifications	CA000088	rs_587782148	6 SubmittersRCV000130712 RCV000478688 RCV000633343 RCV002247510
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 Li-Fraumeni syndrome 2 Bone osteosarcoma Familial cancer of breast Malignant tumor of prostate Hereditary breast ovarian cancer syndrome Condition: not provided Endometrial carcinoma not specified CHEK2-related disorder	Criteria Provided Conflicting Classifications	CA294225	rs_146198085	22 SubmittersRCV000130733 RCV000198345 RCV000515236 RCV002225433 RCV000589669 RCV001356295 RCV000855592 RCV004532565
NM_000546.6(TP53):c.434T>C (p.Leu145Pro)	SNV Germline/somatic	Chr17:7675178	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Ovarian neoplasm Li-Fraumeni syndrome Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA000188	rs_587782197	4 SubmittersRCV000130857 RCV000785265 RCV001232651 RCV004019742
NM_000546.6(TP53):c.1072G>A (p.Glu358Lys)	SNV Germline	Chr17:7670637	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1 Li-Fraumeni syndrome	Criteria Provided Conflicting Classifications	CA000027	rs_587782237	3 SubmittersRCV000130938 RCV002288643 RCV001229943
NM_000546.6(TP53):c.770T>G (p.Leu257Arg)	SNV Germline	Chr17:7674193	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome	Criteria Provided Conflicting Classifications	CA000404	rs_28934577	2 SubmittersRCV000130981 RCV001233712
NM_000546.6(TP53):c.916C>T (p.Arg306Ter)	SNV Germline/somatic	Chr17:7673704	Pathogenic	Hereditary cancer-predisposing syndrome Condition: not provided Li-Fraumeni syndrome Li-Fraumeni syndrome 1 Hereditary breast ovarian cancer syndrome Ovarian neoplasm Gastric cancer Lip and oral cavity carcinoma Lung adenocarcinoma Neoplasm	Criteria Provided Multiple Submitters No Conflicts	CA000495	rs_121913344	19 SubmittersRCV000130997 RCV000356380 RCV000232963 RCV001310214 RCV002307404 RCV000785333 RCV003162584 RCV001255680 RCV003322599 RCV004668794
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	Criteria Provided Multiple Submitters No Conflicts	CA000528	rs_587782272	7 SubmittersRCV000131124 RCV000786811 RCV001380070 RCV002288645 RCV003992194
NM_000546.6(TP53):c.706T>G (p.Tyr236Asp)	SNV Germline	Chr17:7674257	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA000344	rs_587782289	3 SubmittersRCV000131168 RCV001214095 RCV004019744
NM_000546.6(TP53):c.746G>A (p.Arg249Lys)	SNV Germline	Chr17:7674217	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Li-Fraumeni syndrome Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA000391	rs_587782329	5 SubmittersRCV000131246 RCV000724753 RCV001857457 RCV002288647
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 Li-Fraumeni syndrome 2 Bone osteosarcoma Colorectal cancer Familial cancer of breast Malignant tumor of prostate	Criteria Provided Conflicting Classifications	CA294339	rs_587782347	15 SubmittersRCV000131287 RCV000212441 RCV000231753 RCV002271417 RCV002483267
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 TP53-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA000259	rs_397514495	24 SubmittersRCV000131382 RCV000168247 RCV000255239 RCV000576528 RCV000989718 RCV001391195 RCV001527471 RCV003462011 RCV004745211
NM_007194.4(CHEK2):c.319+2T>A	SNV Germline	Chr22:28734401	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Condition: not provided Familial cancer of breast Li-Fraumeni syndrome 2 Bone osteosarcoma Malignant tumor of prostate Familial cancer of breast Breast cancer, susceptibility to Prostate cancer susceptibility Malignant tumor of breast	Criteria Provided Multiple Submitters No Conflicts	CA294375	rs_587782401	17 SubmittersRCV000131434 RCV000212411 RCV000515447 RCV000545158 RCV001258067 RCV003492621
NM_000546.6(TP53):c.1100+13A>G	SNV Germline	Chr17:7670596	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome	Criteria Provided Conflicting Classifications	CA000037	rs_77881630	2 SubmittersRCV000131467 RCV002514746
NM_007194.4(CHEK2):c.707T>C (p.Leu236Pro)	SNV Germline	Chr22:28711994	Likely pathogenic	Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Familial cancer of breast Condition: not provided Familial cancer of breast Li-Fraumeni syndrome 2 Hereditary breast ovarian cancer syndrome Predisposition to cancer Li-Fraumeni syndrome 2 CHEK2-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA294400	rs_587782471	16 SubmittersRCV000131577 RCV000212433 RCV000199653 RCV000586622 RCV000791342 RCV003153427 RCV003389239 RCV004737226
NM_007194.4(CHEK2):c.1510G>C (p.Glu504Gln)	SNV Germline	Chr22:28689167	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 2 Bone osteosarcoma Familial cancer of breast Malignant tumor of prostate Hereditary cancer not specified Familial cancer of breast Condition: not provided	Criteria Provided Conflicting Classifications	CA168459	rs_587782489	11 SubmittersRCV000131614 RCV000764369 RCV004700451 RCV001251282 RCV000198676 RCV000214263
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 Li-Fraumeni syndrome 2	Criteria Provided Multiple Submitters No Conflicts	CA294427	rs_72552322	22 SubmittersRCV000131700 RCV000200030 RCV000210071 RCV000212424 RCV001554290 RCV002291570 RCV003987371 RCV004764770 RCV004776433
NM_007194.4(CHEK2):c.1216C>T (p.Arg406Cys)	SNV Germline	Chr22:28695753	Conflicting classifications of pathogenicity	Li-Fraumeni syndrome 2 Bone osteosarcoma Familial cancer of breast Malignant tumor of prostate Hereditary cancer-predisposing syndrome Malignant tumor of breast Condition: not provided Familial cancer of breast CHEK2-related disorder Li-Fraumeni syndrome 2 not specified Breast and/or ovarian cancer	Criteria Provided Conflicting Classifications	CA294433	rs_587782527	18 SubmittersRCV000515410 RCV000131715 RCV001356488 RCV000587346 RCV000228975 RCV004532574 RCV004776434 RCV000855593 RCV003492628
NM_000546.6(TP53):c.1009C>T (p.Arg337Cys)	SNV Germline/somatic	Chr17:7670700	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Ovarian neoplasm Li-Fraumeni syndrome 1 Condition: not provided Adrenocortical carcinoma, hereditary Neoplasm	Criteria Provided Multiple Submitters No Conflicts	CA000010	rs_587782529	13 SubmittersRCV000131726 RCV000475086 RCV000785479 RCV001310211 RCV001781474 RCV003467184 RCV004668798
NM_000546.6(TP53):c.1079G>T (p.Gly360Val)	SNV Germline	Chr17:7670630	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA000030	rs_35993958	9 SubmittersRCV000131746 RCV000195550 RCV002267882 RCV001284721
NM_000546.6(TP53):c.541C>T (p.Arg181Cys)	SNV Germline	Chr17:7675071	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Condition: not provided Adrenocortical carcinoma, hereditary Familial cancer of breast	Criteria Provided Conflicting Classifications	CA000257	rs_587782596	7 SubmittersRCV000131943 RCV000168292 RCV000236276 RCV003474780 RCV004544301
NM_000546.6(TP53):c.427G>A (p.Val143Met)	SNV Germline	Chr17:7675185	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Adrenocortical carcinoma, hereditary Li-Fraumeni syndrome 1 Breast neoplasm Condition: not provided Malignant tumor of breast	Criteria Provided Conflicting Classifications	CA000176	rs_587782620	9 SubmittersRCV000132003 RCV000227179 RCV003474783 RCV000409072 RCV000413546 RCV001560552 RCV001354661
NM_000546.6(TP53):c.19G>C (p.Asp7His)	SNV Germline	Chr17:7676576	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Condition: not provided Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA000065	rs_587782646	5 SubmittersRCV000132048 RCV001364215 RCV001559782 RCV002288651
NM_000546.6(TP53):c.910A>G (p.Thr304Ala)	SNV Germline	Chr17:7673710	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1 Li-Fraumeni syndrome	Criteria Provided Conflicting Classifications	CA000493	rs_587782654	5 SubmittersRCV000132069 RCV002288653 RCV001050775
NM_000546.6(TP53):c.711G>A (p.Met237Ile)	SNV Germline/somatic	Chr17:7674252	Pathogenic	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome not specified Ovarian neoplasm Breast and/or ovarian cancer Condition: not provided Adrenocortical carcinoma, hereditary Neoplasm Li-Fraumeni syndrome 1	Reviewed By Expert Panel	CA000349	rs_587782664	11 SubmittersRCV000132084 RCV000464261 RCV000581940 RCV000785336 RCV001271055 RCV001567943 RCV003462031 RCV004668799 RCV001527088
NM_000546.6(TP53):c.455C>T (p.Pro152Leu)	SNV Germline/somatic	Chr17:7675157	Pathogenic	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Lip and oral cavity carcinoma Neoplasm TP53-related disorder Condition: not provided Li-Fraumeni syndrome 1 Familial cancer of breast Squamous cell carcinoma of the head and neck Adrenocortical carcinoma, hereditary	Reviewed By Expert Panel	CA000204	rs_587782705	19 SubmittersRCV000132156 RCV000168122 RCV001255632 RCV004668801 RCV004797600 RCV000583667 RCV000677669 RCV000755703 RCV001270267 RCV003462034
NM_000546.6(TP53):c.1010G>T (p.Arg337Leu)	SNV Germline/somatic	Chr17:7670699	Likely pathogenic	Hereditary cancer-predisposing syndrome Ovarian neoplasm Li-Fraumeni syndrome 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA000015	rs_121912664	5 SubmittersRCV000132259 RCV000785297 RCV002288655 RCV003237742
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	Criteria Provided Conflicting Classifications	CA000017	rs_17882252	11 SubmittersRCV000132285 RCV000254694 RCV001030734 RCV001081368 RCV001127282 RCV003891671
NM_000546.6(TP53):c.171C>A (p.Asp57Glu)	SNV Germline	Chr17:7676198	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA000060	rs_587782776	7 SubmittersRCV000132310 RCV002514753 RCV000411346
NM_000546.6(TP53):c.787A>G (p.Asn263Asp)	SNV Germline	Chr17:7673833	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1 Condition: not provided Li-Fraumeni syndrome	Criteria Provided Conflicting Classifications	CA000419	rs_72661119	9 SubmittersRCV000132389 RCV000663318 RCV000679373 RCV000474969
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 Li-Fraumeni syndrome 2 Breast carcinoma Hereditary breast ovarian cancer syndrome Malignant tumor of prostate CHEK2-related disorder Malignant tumor of breast Li-Fraumeni syndrome 2 Bone osteosarcoma Familial prostate cancer Li-Fraumeni syndrome 2	Criteria Provided Multiple Submitters No Conflicts	CA294532	rs_587782849	26 SubmittersRCV000132447 RCV000228472 RCV000656830 RCV001171462 RCV001554293 RCV002468934 RCV003334383 RCV004532583 RCV004551270 RCV004760396 RCV004796033
NM_000546.6(TP53):c.119T>C (p.Met40Thr)	SNV Germline	Chr17:7676250	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1 Li-Fraumeni syndrome	Criteria Provided Conflicting Classifications	CA000050	rs_587782877	4 SubmittersRCV000132511 RCV002288656 RCV002512550
NM_000546.6(TP53):c.665C>T (p.Pro222Leu)	SNV Germline	Chr17:7674866	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Squamous cell carcinoma of the head and neck Li-Fraumeni syndrome 1 Breast and/or ovarian cancer Li-Fraumeni syndrome Condition: not provided not specified TP53-related disorder	Criteria Provided Conflicting Classifications	CA000317	rs_146340390	17 SubmittersRCV000161032 RCV000989715 RCV000411498 RCV001798464 RCV000148907 RCV000213056 RCV001002287 RCV003905279
NM_000546.6(TP53):c.839G>T (p.Arg280Ile)	SNV Germline/somatic	Chr17:7673781	Conflicting classifications of pathogenicity	Malignant tumor of prostate Li-Fraumeni syndrome Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA000447	rs_121912660	3 SubmittersRCV000149052 RCV000633330 RCV004019784
NM_000546.6(TP53):c.797G>A (p.Gly266Glu)	SNV Germline/somatic	Chr17:7673823	Pathogenic/Likely pathogenic	Malignant tumor of prostate Condition: not provided Ovarian neoplasm Li-Fraumeni syndrome Neoplasm Squamous cell carcinoma of the head and neck Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA000421	rs_193920774	10 SubmittersRCV000149050 RCV000255749 RCV000785456 RCV000709403 RCV004668807 RCV000421625 RCV000492556 RCV002288661
NM_000546.6(TP53):c.714T>G (p.Cys238Trp)	SNV Germline/somatic	Chr17:7674249	Pathogenic/Likely pathogenic	Malignant tumor of prostate Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA000353	rs_193920789	3 SubmittersRCV000149049 RCV000203823 RCV002362784
NM_000546.6(TP53):c.481G>A (p.Ala161Thr)	SNV Germline/somatic	Chr17:7675131	Pathogenic/Likely pathogenic	Malignant tumor of prostate Condition: not provided Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1 Ovarian neoplasm Li-Fraumeni syndrome Adrenocortical carcinoma, hereditary	Criteria Provided Multiple Submitters No Conflicts	CA000234	rs_193920817	9 SubmittersRCV000149053 RCV000161027 RCV000214033 RCV000761073 RCV000785328 RCV000473543 RCV003474797
NM_000546.6(TP53):c.722C>G (p.Ser241Cys)	SNV Germline/somatic	Chr17:7674241	Pathogenic/Likely pathogenic	Condition: not provided Ovarian neoplasm Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Li-Fraumeni syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA000357	rs_28934573	7 SubmittersRCV000236210 RCV000785321 RCV000492778 RCV000154419 RCV002288664
NM_000546.6(TP53):c.1010G>C (p.Arg337Pro)	SNV Germline	Chr17:7670699	Likely pathogenic	Li-Fraumeni syndrome Li-Fraumeni syndrome 1 Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA000014	rs_121912664	5 SubmittersRCV000154527 RCV002288666 RCV001187412
NM_000546.6(TP53):c.375G>A (p.Thr125=)	SNV Germline/somatic	Chr17:7675994	Pathogenic/Likely pathogenic	Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Condition: not provided Breast and/or ovarian cancer Glioma susceptibility 1 Li-Fraumeni syndrome 1 Neoplasm TP53-related disorder Adrenocortical carcinoma, hereditary Malignant tumor of prostate Rhabdomyosarcoma	Criteria Provided Multiple Submitters No Conflicts	CA000144	rs_55863639	23 SubmittersRCV000154460 RCV000218743 RCV000483667 RCV001271053 RCV001530197 RCV002288665 RCV004668810 RCV003398806 RCV003462060 RCV001527480 RCV001257525
NM_000546.6(TP53):c.1024C>T (p.Arg342Ter)	SNV Germline/somatic	Chr17:7670685	Pathogenic	Hereditary cancer-predisposing syndrome Condition: not provided Li-Fraumeni syndrome Ovarian neoplasm Gallbladder cancer Colonic diverticula Li-Fraumeni syndrome 1 12 conditions Adrenocortical carcinoma, hereditary TP53-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA000019	rs_730882029	20 SubmittersRCV000161074 RCV000213069 RCV000549233 RCV000785301 RCV001374440 RCV001554321 RCV002288707 RCV002492644 RCV003474838 RCV004797601
NM_000546.6(TP53):c.993+13G>C	SNV Germline	Chr17:7673522	Conflicting classifications of pathogenicity	not specified Li-Fraumeni syndrome 1 Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Breast and/or ovarian cancer	Criteria Provided Conflicting Classifications	CA000522	rs_369599972	5 SubmittersRCV000161051 RCV000409061 RCV000773086 RCV002053941 RCV003149985
NM_000546.6(TP53):c.842A>T (p.Asp281Val)	SNV Germline	Chr17:7673778	Pathogenic/Likely pathogenic	Condition: not provided Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Li-Fraumeni syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA000452	rs_587781525	4 SubmittersRCV000161072 RCV000215048 RCV000799325 RCV002288706
NM_000546.6(TP53):c.782+12C>T	SNV Germline	Chr17:7674169	Conflicting classifications of pathogenicity	not specified Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1 Li-Fraumeni syndrome	Criteria Provided Conflicting Classifications	CA000411	rs_17881780	6 SubmittersRCV000161049 RCV000580153 RCV000663058 RCV002053940
NM_000546.6(TP53):c.752T>G (p.Ile251Ser)	SNV Germline	Chr17:7674211	Conflicting classifications of pathogenicity	Condition: not provided Li-Fraumeni syndrome Li-Fraumeni syndrome 1 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA000396	rs_730882027	4 SubmittersRCV000161070 RCV003621508 RCV004019946 RCV004019947
NM_000546.6(TP53):c.751A>C (p.Ile251Leu)	SNV Germline/somatic	Chr17:7674212	Pathogenic/Likely pathogenic	Condition: not provided Hereditary cancer-predisposing syndrome Ovarian neoplasm Gastric cancer Li-Fraumeni syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA000394	rs_730882007	6 SubmittersRCV000161037 RCV000492548 RCV000785277 RCV002280104 RCV002288694
NM_000546.6(TP53):c.728T>C (p.Met243Thr)	SNV Germline	Chr17:7674235	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Adrenocortical carcinoma, hereditary	Criteria Provided Conflicting Classifications	CA000365	rs_730882006	4 SubmittersRCV000161035 RCV000222280 RCV000686581 RCV003462110
NM_000546.6(TP53):c.713G>A (p.Cys238Tyr)	SNV Germline/somatic	Chr17:7674250	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Ovarian neoplasm Condition: not provided Li-Fraumeni syndrome 1 Hereditary breast ovarian cancer syndrome Gallbladder cancer Adrenocortical carcinoma, hereditary Neoplasm	Criteria Provided Multiple Submitters No Conflicts	CA000351	rs_730882005	12 SubmittersRCV000161034 RCV000167907 RCV000785261 RCV000235220 RCV002288693 RCV004794368 RCV001374444 RCV003462109 RCV004668817
NM_000546.6(TP53):c.709A>G (p.Met237Val)	SNV Germline	Chr17:7674254	Conflicting classifications of pathogenicity	not specified Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA000348	rs_730882004	5 SubmittersRCV000161033 RCV000200500 RCV001526334 RCV002288692
NM_000546.6(TP53):c.707A>C (p.Tyr236Ser)	SNV Germline	Chr17:7674256	Conflicting classifications of pathogenicity	Condition: not provided Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA000346	rs_730882026	3 SubmittersRCV000161069 RCV001373091 RCV002288705 RCV002288704
NM_000546.6(TP53):c.646G>A (p.Val216Met)	SNV Germline/somatic	Chr17:7674885	Pathogenic/Likely pathogenic	Condition: not provided Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome not specified Li-Fraumeni syndrome 1 Ovarian neoplasm Adrenocortical carcinoma, hereditary Neoplasm	Criteria Provided Multiple Submitters No Conflicts	CA000308	rs_730882025	14 SubmittersRCV000161067 RCV000168150 RCV000561534 RCV000583984 RCV000663213 RCV000785523 RCV003474837 RCV004668819
NM_000546.6(TP53):c.575A>G (p.Gln192Arg)	SNV Germline	Chr17:7674956	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Li-Fraumeni syndrome 1 Adrenocortical carcinoma, hereditary	Criteria Provided Conflicting Classifications	CA000273	rs_730882002	5 SubmittersRCV000161029 RCV001024490 RCV001371035 RCV002288689 RCV003462108
NM_000546.6(TP53):c.524G>T (p.Arg175Leu)	SNV Germline	Chr17:7675088	Likely pathogenic	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Li-Fraumeni syndrome 1	Reviewed By Expert Panel	CA000252	rs_28934578	4 SubmittersRCV000161065 RCV000810785 RCV002288703
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 Squamous cell carcinoma of the head and neck Lip and oral cavity carcinoma Li-Fraumeni syndrome 1 Familial cancer of breast	Criteria Provided Multiple Submitters No Conflicts	CA000243	rs_730882001	10 SubmittersRCV000161028 RCV000219202 RCV000633373 RCV000785484 RCV001270262 RCV001255634 RCV002288688 RCV002272147
NM_000546.6(TP53):c.380C>T (p.Ser127Phe)	SNV Germline/somatic	Chr17:7675232	Pathogenic/Likely pathogenic	Condition: not provided not specified Ovarian neoplasm Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Adrenocortical carcinoma, hereditary Li-Fraumeni syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA000148	rs_730881999	9 SubmittersRCV000161024 RCV000606528 RCV000785332 RCV000633384 RCV003162681 RCV003474836 RCV004019945
NM_000546.6(TP53):c.289G>C (p.Val97Leu)	SNV Germline	Chr17:7676080	Conflicting classifications of pathogenicity	Condition: not provided Li-Fraumeni syndrome Li-Fraumeni syndrome 1 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA000092	rs_730882023	6 SubmittersRCV000161064 RCV001850278 RCV002288701 RCV002288702
NM_000546.6(TP53):c.266C>T (p.Pro89Leu)	SNV Germline	Chr17:7676103	Conflicting classifications of pathogenicity	Condition: not provided Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA000089	rs_730881994	7 SubmittersRCV000161019 RCV000560488 RCV001016264 RCV002288683
NM_000546.6(TP53):c.97-9C>T	SNV Germline	Chr17:7676281	Conflicting classifications of pathogenicity	not specified Condition: not provided Li-Fraumeni syndrome 1 Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome	Criteria Provided Conflicting Classifications	CA000518	rs_202217267	12 SubmittersRCV000161046 RCV000195920 RCV000410371 RCV000580612 RCV001079867
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 Familial cancer of breast Li-Fraumeni syndrome 2 Malignant tumor of prostate Colorectal cancer Bone osteosarcoma	Criteria Provided Multiple Submitters No Conflicts	CA299073	rs_730881687	11 SubmittersRCV000160429 RCV000214915 RCV000464029 RCV002498796
NM_007194.4(CHEK2):c.409C>T (p.Arg137Ter)	SNV Germline	Chr22:28725278	Pathogenic	Hereditary cancer-predisposing syndrome Familial cancer of breast Condition: not provided Familial cancer of breast Li-Fraumeni syndrome 2 Bone osteosarcoma Malignant tumor of prostate Congenital heart defects, multiple types, 3 Hereditary breast ovarian cancer syndrome Gastric cancer CHEK2-related cancer predisposition	Criteria Provided Multiple Submitters No Conflicts	CA299110	rs_730881701	17 SubmittersRCV000160452 RCV000229303 RCV000254656 RCV000763477 RCV001007871 RCV001526967 RCV003162676 RCV004556752
NM_000546.6(TP53):c.649G>A (p.Val217Met)	SNV Germline	Chr17:7674882	Conflicting classifications of pathogenicity	Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA000309	rs_35163653	3 SubmittersRCV000161936 RCV002354406
NM_000546.6(TP53):c.1135C>T (p.Arg379Cys)	SNV Germline	Chr17:7669656	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1 Li-Fraumeni syndrome	Criteria Provided Conflicting Classifications	CA000043	rs_749061599	6 SubmittersRCV000166233 RCV002288759 RCV000559034
NM_000546.6(TP53):c.1078G>A (p.Gly360Arg)	SNV Germline	Chr17:7670631	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Condition: not provided TP53-related disorder not specified	Criteria Provided Conflicting Classifications	CA000028	rs_786203298	7 SubmittersRCV000166545 RCV001241003 RCV001567714 RCV003416041 RCV003987388
NM_000546.6(TP53):c.1000G>A (p.Gly334Arg)	SNV Germline	Chr17:7670709	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome	Criteria Provided Conflicting Classifications	CA000006	rs_730882028	2 SubmittersRCV000165615 RCV002516487
NM_000546.6(TP53):c.920-5C>T	SNV Germline	Chr17:7673613	Conflicting classifications of pathogenicity	Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA000502	rs_34361146	8 SubmittersRCV001087552 RCV000164926 RCV000587880 RCV001283870
NM_000546.6(TP53):c.856G>A (p.Glu286Lys)	SNV Germline/somatic	Chr17:7673764	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Condition: not provided Li-Fraumeni syndrome 1 Vulvar adenocarcinoma of mammary gland type Neoplasm	Criteria Provided Multiple Submitters No Conflicts	CA000464	rs_786201059	7 SubmittersRCV000162466 RCV000466372 RCV000255724 RCV002288710 RCV004813066 RCV004668822
NM_000546.6(TP53):c.830G>A (p.Cys277Tyr)	SNV Germline	Chr17:7673790	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Adrenocortical carcinoma, hereditary Condition: not provided Malignant tumor of breast	Criteria Provided Conflicting Classifications	CA000438	rs_763098116	8 SubmittersRCV000165199 RCV000456858 RCV003474865 RCV000254809 RCV001357202
NM_000546.6(TP53):c.827C>G (p.Ala276Gly)	SNV Germline	Chr17:7673793	Pathogenic	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome	Criteria Provided Multiple Submitters No Conflicts	CA000436	rs_786202082	2 SubmittersRCV000164718 RCV003765021
NM_000546.6(TP53):c.814G>A (p.Val272Met)	SNV Germline/somatic	Chr17:7673806	Pathogenic	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Ovarian neoplasm Condition: not provided Li-Fraumeni syndrome 1 Neoplasm	Reviewed By Expert Panel	CA000427	rs_121912657	8 SubmittersRCV000165304 RCV000457645 RCV000785341 RCV002243833 RCV001527085 RCV004668825
NM_000546.6(TP53):c.740A>T (p.Asn247Ile)	SNV Germline/somatic	Chr17:7674223	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Ovarian neoplasm Li-Fraumeni syndrome	Criteria Provided Conflicting Classifications	CA000378	rs_786201762	3 SubmittersRCV000164218 RCV000785503 RCV001338713
NM_000546.6(TP53):c.736A>C (p.Met246Leu)	SNV Germline	Chr17:7674227	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome	Criteria Provided Conflicting Classifications	CA000373	rs_483352695	2 SubmittersRCV000166380 RCV002516500
NM_000546.6(TP53):c.578A>T (p.His193Leu)	SNV Germline/somatic	Chr17:7674953	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Ovarian neoplasm Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA000276	rs_786201838	4 SubmittersRCV000165315 RCV000697802 RCV000785542 RCV004019975
NM_000546.6(TP53):c.578A>G (p.His193Arg)	SNV Germline/somatic	Chr17:7674953	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Condition: not provided Squamous cell carcinoma of the head and neck Li-Fraumeni syndrome Ovarian neoplasm Li-Fraumeni syndrome 1 Adrenocortical carcinoma, hereditary	Criteria Provided Multiple Submitters No Conflicts	CA000274	rs_786201838	9 SubmittersRCV000164329 RCV000255425 RCV000429618 RCV000460847 RCV000785346 RCV002288732 RCV003474857
NM_000546.6(TP53):c.527G>A (p.Cys176Tyr)	SNV Germline/somatic	Chr17:7675085	Pathogenic	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Condition: not provided Adrenal cortex carcinoma Familial ovarian cancer Li-Fraumeni syndrome 1 Squamous cell carcinoma TP53-related disorder Adrenocortical carcinoma, hereditary	Criteria Provided Multiple Submitters No Conflicts	CA000254	rs_786202962	9 SubmittersRCV000166045 RCV000461158 RCV000255616 RCV003995473 RCV001354219 RCV002288754 RCV003128588 RCV003407616 RCV003474872
NM_000546.6(TP53):c.487T>G (p.Tyr163Asp)	SNV Germline	Chr17:7675125	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome	Criteria Provided Conflicting Classifications	CA000239	rs_786203436	2 SubmittersRCV000166739 RCV001850353
NM_000546.6(TP53):c.464C>G (p.Thr155Ser)	SNV Germline	Chr17:7675148	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided not specified Li-Fraumeni syndrome	Criteria Provided Conflicting Classifications	CA000210	rs_786202752	6 SubmittersRCV000165724 RCV000986051 RCV001192618 RCV000804037
NM_000546.6(TP53):c.431A>C (p.Gln144Pro)	SNV Germline/somatic	Chr17:7675181	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1 Ovarian neoplasm Li-Fraumeni syndrome	Criteria Provided Conflicting Classifications	CA000182	rs_786203071	4 SubmittersRCV000166212 RCV002288758 RCV000785331 RCV001850338
NM_000546.6(TP53):c.413C>T (p.Ala138Val)	SNV Germline/somatic	Chr17:7675199	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Adrenocortical carcinoma, hereditary Li-Fraumeni syndrome 1 Adrenal cortex carcinoma	Criteria Provided Conflicting Classifications	CA000168	rs_750600586	5 SubmittersRCV000164195 RCV000813957 RCV003474852 RCV004019963 RCV003995323
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	Criteria Provided Multiple Submitters No Conflicts	CA000146	rs_786202799	8 SubmittersRCV000165794 RCV000480344 RCV000554039 RCV000785343 RCV001374443 RCV002288750
NM_000546.6(TP53):c.374C>T (p.Thr125Met)	SNV Germline/somatic	Chr17:7675995	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Li-Fraumeni syndrome Li-Fraumeni syndrome 1 Adrenocortical carcinoma, hereditary Neoplasm TP53-related disorder	Criteria Provided Conflicting Classifications	CA000140	rs_786201057	18 SubmittersRCV000162461 RCV000237013 RCV000457119 RCV000576336 RCV003462117 RCV004668821 RCV004797602
NM_000546.6(TP53):c.305C>T (p.Thr102Ile)	SNV Germline	Chr17:7676064	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Li-Fraumeni syndrome 1 Li-Fraumeni syndrome	Criteria Provided Conflicting Classifications	CA000098	rs_786202717	7 SubmittersRCV000165667 RCV004721282 RCV002288749 RCV000819967
NM_000546.6(TP53):c.100C>G (p.Pro34Ala)	SNV Germline	Chr17:7676269	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA000012	rs_786201968	6 SubmittersRCV000483753 RCV000165887 RCV000205889 RCV002288753
NM_000546.6(TP53):c.100C>A (p.Pro34Thr)	SNV Germline	Chr17:7676269	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Condition: not provided Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA000011	rs_786201968	6 SubmittersRCV000164526 RCV000471959 RCV001582646 RCV002288737
NM_000546.6(TP53):c.83A>T (p.Glu28Val)	SNV Germline	Chr17:7676395	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Li-Fraumeni syndrome 1 Adrenocortical carcinoma, hereditary	Criteria Provided Conflicting Classifications	CA000449	rs_786202289	4 SubmittersRCV000165025 RCV001850309 RCV002288739 RCV004567258
NM_000546.6(TP53):c.66A>G (p.Leu22=)	SNV Germline	Chr17:7676529	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Condition: not provided Squamous cell carcinoma of the head and neck not specified TP53-related disorder	Criteria Provided Conflicting Classifications	CA000323	rs_748527030	8 SubmittersRCV000163369 RCV000196762 RCV000483133 RCV000989728 RCV001174848 RCV004745236
NM_000546.6(TP53):c.63C>T (p.Asp21=)	SNV Germline/somatic	Chr17:7676532	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome not specified Condition: not provided Familial cancer of breast Breast and/or ovarian cancer	Criteria Provided Conflicting Classifications	CA000304	rs_1800369	12 SubmittersRCV000163241 RCV000196365 RCV000430891 RCV000590622 RCV001270281 RCV003492674
NM_000546.6(TP53):c.1087A>G (p.Arg363Gly)	SNV Germline	Chr17:7670622	Conflicting classifications of pathogenicity	Li-Fraumeni syndrome Condition: not provided Li-Fraumeni syndrome 1 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA000033	rs_745751553	5 SubmittersRCV000168038 RCV000483595 RCV002288771 RCV002288772
NM_000546.6(TP53):c.589G>A (p.Val197Met)	SNV Germline	Chr17:7674942	Conflicting classifications of pathogenicity	Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA000285	rs_786204041	5 SubmittersRCV000167874 RCV001024656 RCV002288770
NM_000546.6(TP53):c.560-9T>A	SNV Germline	Chr17:7674980	Conflicting classifications of pathogenicity	Condition: not provided Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA000269	rs_794727781	5 SubmittersRCV000179330 RCV001046951 RCV002288783 RCV002288782
NM_000546.6(TP53):c.1025G>C (p.Arg342Pro)	SNV Germline/somatic	Chr17:7670684	Pathogenic	Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Ovarian neoplasm Condition: not provided Li-Fraumeni syndrome 1	Reviewed By Expert Panel	CA337802	rs_375338359	8 SubmittersRCV000198319 RCV000213216 RCV000785264 RCV001538204 RCV002288808
NM_000546.6(TP53):c.973G>T (p.Gly325Ter)	SNV Germline	Chr17:7673555	Pathogenic	Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA335679	rs_863224500	3 SubmittersRCV000195434 RCV002372184 RCV002286715
NM_000546.6(TP53):c.964C>T (p.Pro322Ser)	SNV Germline	Chr17:7673564	Conflicting classifications of pathogenicity	Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA336073	rs_863224687	4 SubmittersRCV000195973 RCV000573146 RCV002288818
NM_000546.6(TP53):c.919+5G>C	SNV Germline	Chr17:7673696	Conflicting classifications of pathogenicity	Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA338258	rs_766127339	2 SubmittersRCV000198875 RCV000220008
NM_000546.6(TP53):c.824G>A (p.Cys275Tyr)	SNV Germline/somatic	Chr17:7673796	Pathogenic/Likely pathogenic	Li-Fraumeni syndrome Condition: not provided Hereditary cancer-predisposing syndrome Breast carcinoma Acute myeloid leukemia Ovarian neoplasm Neoplasm Adrenocortical carcinoma, hereditary Li-Fraumeni syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA337141	rs_863224451	13 SubmittersRCV000197359 RCV000235315 RCV000568594 RCV001610519 RCV003320135 RCV000785533 RCV004668842 RCV003468892 RCV002288809
NM_000546.6(TP53):c.706T>C (p.Tyr236His)	SNV Germline	Chr17:7674257	Pathogenic/Likely pathogenic	Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA338059	rs_587782289	3 SubmittersRCV000198628 RCV000492107 RCV004020463
NM_000546.6(TP53):c.672+1G>A	SNV Germline/somatic	Chr17:7674858	Pathogenic/Likely pathogenic	Li-Fraumeni syndrome Condition: not provided Li-Fraumeni syndrome 1 Hereditary cancer-predisposing syndrome Neoplasm Adrenocortical carcinoma, hereditary	Criteria Provided Multiple Submitters No Conflicts	CA339249	rs_863224499	9 SubmittersRCV000200333 RCV000786828 RCV002288813 RCV002288814 RCV004668847 RCV003474954
NM_000546.6(TP53):c.584T>C (p.Ile195Thr)	SNV Germline/somatic	Chr17:7674947	Conflicting classifications of pathogenicity	Lung adenocarcinoma Condition: not provided Li-Fraumeni syndrome Ovarian neoplasm Hereditary cancer-predisposing syndrome Breast and/or ovarian cancer Adrenocortical carcinoma, hereditary Li-Fraumeni syndrome 1 Neoplasm TP53-related disorder	Criteria Provided Conflicting Classifications	CA002232	rs_760043106	13 SubmittersRCV000421097 RCV000487386 RCV000198789 RCV000785324 RCV001024600 RCV001271054 RCV003474953 RCV002288812 RCV004668846 RCV004725053
NM_000546.6(TP53):c.388C>T (p.Leu130Phe)	SNV Germline	Chr17:7675224	Conflicting classifications of pathogenicity	Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome not specified Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA339065	rs_863224683	6 SubmittersRCV000200055 RCV000571787 RCV002271460 RCV002288816
NM_000546.6(TP53):c.374C>A (p.Thr125Lys)	SNV Germline	Chr17:7675995	Pathogenic	Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA337257	rs_786201057	2 SubmittersRCV000197507 RCV003165469
NM_007194.4(CHEK2):c.593-1G>T	SNV Germline	Chr22:28719486	Pathogenic/Likely pathogenic	Familial cancer of breast Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 2 Bone osteosarcoma Familial cancer of breast Colorectal cancer Malignant tumor of prostate	Criteria Provided Multiple Submitters No Conflicts	CA336037	rs_786203229	9 SubmittersRCV000195929 RCV000566129 RCV002485316
NM_000546.6(TP53):c.700T>G (p.Tyr234Asp)	SNV Germline	Chr17:7674263	Pathogenic/Likely pathogenic	Li-Fraumeni syndrome Li-Fraumeni syndrome 1 Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA348450	rs_864622237	3 SubmittersRCV000204217 RCV004020511 RCV000492197
NM_000546.6(TP53):c.380C>G (p.Ser127Cys)	SNV Germline	Chr17:7675232	Pathogenic	Li-Fraumeni syndrome	Criteria Provided Single Submitter	CA349567	rs_730881999	1 SubmittersRCV000205404
NM_000546.6(TP53):c.202G>T (p.Glu68Ter)	SNV Germline	Chr17:7676167	Pathogenic	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Li-Fraumeni syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA353535	rs_869312782	4 SubmittersRCV000210192 RCV001853361 RCV002288839
NM_000546.6(TP53):c.517G>A (p.Val173Met)	SNV Germline/somatic	Chr17:7675095	Pathogenic	Hereditary cancer-predisposing syndrome Condition: not provided Li-Fraumeni syndrome Lip and oral cavity carcinoma Ovarian neoplasm TP53-related disorder	Reviewed By Expert Panel	CA10577579	rs_876660754	9 SubmittersRCV000214341 RCV000223396 RCV000477355 RCV001255635 RCV000785308 RCV004797606
NM_000546.6(TP53):c.1115A>G (p.Lys372Arg)	SNV Germline	Chr17:7669676	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome TP53-related disorder Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA10580901	rs_876658876	4 SubmittersRCV000217059 RCV003401139 RCV002288860
NM_000546.6(TP53):c.1101-1G>A	SNV Germline	Chr17:7669691	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Li-Fraumeni syndrome 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA10580902	rs_876658982	7 SubmittersRCV000222547 RCV000466199 RCV001252683 RCV001535521
NM_000546.6(TP53):c.1079G>A (p.Gly360Glu)	SNV Germline	Chr17:7670630	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Condition: not provided Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA10580905	rs_35993958	6 SubmittersRCV000213880 RCV000541338 RCV001537143 RCV002288853
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	Criteria Provided Conflicting Classifications	CA000790	rs_773553186	8 SubmittersRCV000219841 RCV000249541 RCV000463320 RCV001557066
NM_000546.6(TP53):c.994-1G>C	SNV Germline	Chr17:7670716	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Condition: not provided Li-Fraumeni syndrome Li-Fraumeni syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA10580906	rs_587782272	5 SubmittersRCV000221716 RCV000786812 RCV000804263 RCV002288878
NM_000546.6(TP53):c.976G>T (p.Glu326Ter)	SNV Germline/somatic	Chr17:7673552	Pathogenic	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Ovarian neoplasm Li-Fraumeni syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA10580908	rs_876659384	5 SubmittersRCV000218971 RCV000633385 RCV000785490 RCV002288871
NM_000546.6(TP53):c.930C>A (p.Asn310Lys)	SNV Germline	Chr17:7673598	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA10580910	rs_876660829	5 SubmittersRCV000221944 RCV000797410 RCV002288897
NM_000546.6(TP53):c.919+3A>G	SNV Germline	Chr17:7673698	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome	Criteria Provided Conflicting Classifications	CA10580911	rs_876659784	4 SubmittersRCV000216225 RCV001853589
NM_000546.6(TP53):c.908G>A (p.Ser303Asn)	SNV Germline	Chr17:7673712	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA10580912	rs_876658714	3 SubmittersRCV000218916 RCV000700080 RCV002288859
NM_000546.6(TP53):c.877G>A (p.Gly293Arg)	SNV Germline	Chr17:7673743	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA001422	rs_587780076	5 SubmittersRCV000219408 RCV001052713 RCV002288849
NM_000546.6(TP53):c.833C>T (p.Pro278Leu)	SNV Germline/somatic	Chr17:7673787	Pathogenic	Hereditary cancer-predisposing syndrome Condition: not provided Ovarian neoplasm Gallbladder cancer Li-Fraumeni syndrome	Criteria Provided Multiple Submitters No Conflicts	CA10580915	rs_876659802	5 SubmittersRCV000214784 RCV001541668 RCV000785311 RCV001374441 RCV001042706
NM_000546.6(TP53):c.827C>A (p.Ala276Asp)	SNV Germline/somatic	Chr17:7673793	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Li-Fraumeni syndrome 1 Li-Fraumeni syndrome Neoplasm	Criteria Provided Conflicting Classifications	CA10580916	rs_786202082	6 SubmittersRCV000223364 RCV000236401 RCV002288879 RCV002515676 RCV004668858
NM_000546.6(TP53):c.818G>C (p.Arg273Pro)	SNV Germline/somatic	Chr17:7673802	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Li-Fraumeni syndrome 1 Ovarian neoplasm	Criteria Provided Multiple Submitters No Conflicts	CA10580917	rs_28934576	5 SubmittersRCV000222860 RCV000553607 RCV002288863 RCV000785460
NM_000546.6(TP53):c.815T>G (p.Val272Gly)	SNV Germline	Chr17:7673805	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA10580918	rs_876660333	3 SubmittersRCV000220536 RCV002515714 RCV004020685
NM_000546.6(TP53):c.797G>T (p.Gly266Val)	SNV Germline	Chr17:7673823	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA10580919	rs_193920774	3 SubmittersRCV000220597 RCV001854689 RCV002288888
NM_000546.6(TP53):c.764T>A (p.Ile255Asn)	SNV Germline	Chr17:7674199	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Li-Fraumeni syndrome 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA10580923	rs_876659675	5 SubmittersRCV000221023 RCV000633370 RCV002288875 RCV004701291
NM_000546.6(TP53):c.743G>T (p.Arg248Leu)	SNV Germline	Chr17:7674220	Pathogenic	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Adrenocortical carcinoma, hereditary Li-Fraumeni syndrome 1	Reviewed By Expert Panel	CA10580924	rs_11540652	6 SubmittersRCV000219834 RCV000991149 RCV003475005 RCV004020650
NM_000546.6(TP53):c.715A>G (p.Asn239Asp)	SNV Germline	Chr17:7674248	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Malignant tumor of breast Adrenocortical carcinoma, hereditary Li-Fraumeni syndrome 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA10580926	rs_876660807	7 SubmittersRCV000223044 RCV000560536 RCV001355898 RCV003475037 RCV004020697 RCV003137828
NM_000546.6(TP53):c.638G>C (p.Arg213Pro)	SNV Germline/somatic	Chr17:7674893	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome not specified Li-Fraumeni syndrome 1 Li-Fraumeni syndrome Neoplasm	Criteria Provided Multiple Submitters No Conflicts	CA10580932	rs_587778720	5 SubmittersRCV000220461 RCV000506128 RCV002288865 RCV002518297 RCV004668856
NM_000546.6(TP53):c.604C>G (p.Arg202Gly)	SNV Germline	Chr17:7674927	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome	Criteria Provided Conflicting Classifications	CA10580933	rs_587780072	3 SubmittersRCV000218191 RCV003509516
NM_000546.6(TP53):c.587G>C (p.Arg196Pro)	SNV Germline	Chr17:7674944	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Li-Fraumeni syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA10580934	rs_483352697	5 SubmittersRCV000216410 RCV003114386 RCV004020663
NM_000546.6(TP53):c.577C>T (p.His193Tyr)	SNV Germline/somatic	Chr17:7674954	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1 Condition: not provided Li-Fraumeni syndrome Malignant tumor of urinary bladder	Criteria Provided Multiple Submitters No Conflicts	CA10580936	rs_876658468	6 SubmittersRCV000221478 RCV002288851 RCV000412758 RCV000809571 RCV003332145
NM_000546.6(TP53):c.569C>G (p.Pro190Arg)	SNV Germline	Chr17:7674962	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA10580937	rs_876660825	3 SubmittersRCV000222080 RCV001045782 RCV002288896
NM_000546.6(TP53):c.329G>C (p.Arg110Pro)	SNV Germline	Chr17:7676040	Pathogenic/Likely pathogenic	Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1 Familial cancer of breast Adrenocortical carcinoma, hereditary	Criteria Provided Multiple Submitters No Conflicts	CA10580948	rs_11540654	6 SubmittersRCV000231991 RCV000222678 RCV002288889 RCV004698486 RCV003462528
NM_000546.6(TP53):c.273G>A (p.Trp91Ter)	SNV Germline/somatic	Chr17:7676096	Pathogenic	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Condition: not provided Ovarian neoplasm Li-Fraumeni syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA10580953	rs_876660548	9 SubmittersRCV000220815 RCV000233967 RCV000657656 RCV000785284 RCV001028065
NM_000546.6(TP53):c.233C>G (p.Ala78Gly)	SNV Germline	Chr17:7676136	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Li-Fraumeni syndrome 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA10580955	rs_876658527	7 SubmittersRCV000219512 RCV000552207 RCV002288854 RCV004998447
NM_000546.6(TP53):c.214C>A (p.Pro72Thr)	SNV Germline	Chr17:7676155	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome	Criteria Provided Conflicting Classifications	CA003071	rs_587782769	3 SubmittersRCV000223537 RCV001221060
NM_000546.6(TP53):c.158G>A (p.Trp53Ter)	SNV Germline/somatic	Chr17:7676211	Pathogenic	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Ovarian neoplasm Li-Fraumeni syndrome 1 Adrenocortical carcinoma, hereditary	Criteria Provided Multiple Submitters No Conflicts	CA10580959	rs_876658483	6 SubmittersRCV000222677 RCV000693351 RCV000785314 RCV002288852 RCV003475007
NM_000546.6(TP53):c.146A>G (p.Asp49Gly)	SNV Germline	Chr17:7676223	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome	Criteria Provided Conflicting Classifications	CA003170	rs_759728549	3 SubmittersRCV000219898 RCV000702036
NM_000546.6(TP53):c.14A>G (p.Gln5Arg)	SNV Germline	Chr17:7676581	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Condition: not provided Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA003990	rs_781595324	6 SubmittersRCV000220312 RCV000550564 RCV001575870 RCV002288887
NM_000546.6(TP53):c.1100+8A>G	SNV Germline	Chr17:7670601	Conflicting classifications of pathogenicity	Li-Fraumeni syndrome not specified Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA10583673	rs_878854062	4 SubmittersRCV000229362 RCV000437181 RCV000580314
NM_000546.6(TP53):c.845G>A (p.Arg282Gln)	SNV Germline	Chr17:7673775	Conflicting classifications of pathogenicity	Li-Fraumeni syndrome not specified Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1 Condition: not provided Adrenocortical carcinoma, hereditary Hereditary breast ovarian cancer syndrome Malignant tumor of breast	Criteria Provided Conflicting Classifications	CA10575441	rs_730882008	13 SubmittersRCV000226273 RCV000235474 RCV000492420 RCV000709768 RCV000767028 RCV003463657 RCV003483584 RCV001357626
NM_000546.6(TP53):c.743G>C (p.Arg248Pro)	SNV Germline	Chr17:7674220	Pathogenic/Likely pathogenic	Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA10583676	rs_11540652	3 SubmittersRCV000229442 RCV002378977 RCV004020765
NM_000546.6(TP53):c.673-1G>T	SNV Germline/somatic	Chr17:7674291	Pathogenic	Li-Fraumeni syndrome Condition: not provided	Criteria Provided Single Submitter	CA10583677	rs_878854073	2 SubmittersRCV000228996 RCV001610535
NM_000546.6(TP53):c.652G>A (p.Val218Met)	SNV Germline	Chr17:7674879	Conflicting classifications of pathogenicity	Li-Fraumeni syndrome Condition: not provided Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA10583679	rs_878854072	4 SubmittersRCV000228072 RCV001357802 RCV002256136
NM_000546.6(TP53):c.375G>T (p.Thr125=)	SNV Germline	Chr17:7675994	Pathogenic/Likely pathogenic	Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Condition: not provided Li-Fraumeni syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA10575452	rs_55863639	4 SubmittersRCV000229813 RCV002347868 RCV000786841 RCV004020764
NM_000546.6(TP53):c.97-4A>T	SNV Germline	Chr17:7676276	Conflicting classifications of pathogenicity	Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA003276	rs_746791390	4 SubmittersRCV000229785 RCV000563713 RCV001682937
NM_000546.6(TP53):c.38C>T (p.Pro13Leu)	SNV Germline	Chr17:7676557	Conflicting classifications of pathogenicity	Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1 Adrenocortical carcinoma, hereditary	Criteria Provided Conflicting Classifications	CA10583685	rs_878854070	5 SubmittersRCV000226793 RCV001021387 RCV002288916 RCV003469151
NM_007194.4(CHEK2):c.683+1G>A	SNV Germline/somatic	Chr22:28719394	Likely pathogenic	Familial cancer of breast Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 2 Neoplasm	Criteria Provided Multiple Submitters No Conflicts	CA10583911	rs_786203650	6 SubmittersRCV000229878 RCV000571803 RCV003333745 RCV004668868
NM_000546.6(TP53):c.794T>C (p.Leu265Pro)	SNV Germline	Chr17:7673826	Pathogenic/Likely pathogenic	Condition: not provided Li-Fraumeni syndrome Li-Fraumeni syndrome 1 Hereditary cancer-predisposing syndrome Rhabdomyosarcoma	Criteria Provided Multiple Submitters No Conflicts	CA10584586	rs_879253942	7 SubmittersRCV000235981 RCV000554509 RCV000662855 RCV000564617 RCV001257518
NM_000546.6(TP53):c.698A>G (p.His233Arg)	SNV Germline	Chr17:7674265	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1 Li-Fraumeni syndrome	Criteria Provided Conflicting Classifications	CA10584588	rs_879254233	4 SubmittersRCV000235730 RCV000569303 RCV002288936 RCV001302749
NM_000546.6(TP53):c.655C>T (p.Pro219Ser)	SNV Germline	Chr17:7674876	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1 Li-Fraumeni syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA10584589	rs_879253894	5 SubmittersRCV000492115 RCV000576805 RCV001065230 RCV001705300
NM_000546.6(TP53):c.538G>A (p.Glu180Lys)	SNV Germline	Chr17:7675074	Likely pathogenic	Condition: not provided Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome TP53-related disorder	Reviewed By Expert Panel	CA10584590	rs_879253911	5 SubmittersRCV000235571 RCV000544036 RCV000492319 RCV004797607
NM_000546.6(TP53):c.490A>G (p.Lys164Glu)	SNV Germline	Chr17:7675122	Conflicting classifications of pathogenicity	Condition: not provided Li-Fraumeni syndrome Li-Fraumeni syndrome 1 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA10584591	rs_879254249	4 SubmittersRCV000235745 RCV000541487 RCV002288937 RCV002288938
NM_000546.6(TP53):c.473G>C (p.Arg158Pro)	SNV Germline	Chr17:7675139	Pathogenic/Likely pathogenic	Condition: not provided Li-Fraumeni syndrome Squamous cell carcinoma of the head and neck Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA10584592	rs_587782144	6 SubmittersRCV000236862 RCV000548853 RCV000989719 RCV002288932 RCV002288931
NM_000546.6(TP53):c.559+8G>A	SNV Germline	Chr17:7675045	Conflicting classifications of pathogenicity	not specified Condition: not provided Li-Fraumeni syndrome	Criteria Provided Conflicting Classifications	CA002364	rs_775915220	5 SubmittersRCV000253181 RCV000726139 RCV001078796
NM_000546.6(TP53):c.734G>C (p.Gly245Ala)	SNV Germline/somatic	Chr17:7674229	Conflicting classifications of pathogenicity	Condition: not provided Li-Fraumeni syndrome Adrenocortical carcinoma, hereditary Hereditary cancer-predisposing syndrome Adrenal cortex carcinoma	Criteria Provided Conflicting Classifications	CA10588670	rs_121912656	5 SubmittersRCV000255018 RCV003509522 RCV004567808 RCV002379095 RCV003995742
NM_000546.6(TP53):c.643A>G (p.Ser215Gly)	SNV Germline	Chr17:7674888	Conflicting classifications of pathogenicity	Condition: not provided Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Ovarian neoplasm not specified Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA10588671	rs_886039484	8 SubmittersRCV000255449 RCV000700891 RCV000772138 RCV000785239 RCV002282093 RCV004021028
NM_000546.6(TP53):c.376T>G (p.Tyr126Asp)	SNV Germline/somatic	Chr17:7675236	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Ovarian neoplasm Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA10588672	rs_886039483	5 SubmittersRCV000255685 RCV000568595 RCV000705124 RCV000785482 RCV004021027
NM_000546.6(TP53):c.673-37C>T	SNV Germline	Chr17:7674327	Conflicting classifications of pathogenicity	Li-Fraumeni syndrome 1 not specified Condition: not provided Hereditary cancer-predisposing syndrome TP53-related disorder	Criteria Provided Conflicting Classifications	CA001891	rs_374907737	6 SubmittersRCV000409763 RCV001796970 RCV001810875 RCV002288981 RCV003892009
NM_000546.6(TP53):c.74+9A>C	SNV Germline	Chr17:7676512	Conflicting classifications of pathogenicity	Li-Fraumeni syndrome 1 Li-Fraumeni syndrome Breast and/or ovarian cancer	Criteria Provided Conflicting Classifications	CA16042179	rs_1057517593	5 SubmittersRCV000410984 RCV000469570 RCV003150194
NM_000546.6(TP53):c.731G>A (p.Gly244Asp)	SNV Germline/somatic	Chr17:7674232	Pathogenic/Likely pathogenic	Condition: not provided Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Ovarian neoplasm Li-Fraumeni syndrome 1 Gastric cancer Neoplasm	Criteria Provided Multiple Submitters No Conflicts	CA16043048	rs_985033810	10 SubmittersRCV000413969 RCV000477083 RCV000561866 RCV000785537 RCV002288986 RCV003168599 RCV004668915
NM_000546.6(TP53):c.746G>C (p.Arg249Thr)	SNV Germline	Chr17:7674217	Pathogenic/Likely pathogenic	Condition: not provided Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA16602484	rs_587782329	3 SubmittersRCV001311109 RCV002392945 RCV004022197
NM_000546.6(TP53):c.518T>G (p.Val173Gly)	SNV Germline	Chr17:7675094	Conflicting classifications of pathogenicity	Li-Fraumeni syndrome Adrenocortical carcinoma, hereditary	Criteria Provided Conflicting Classifications	CA16602485	rs_1057519747	2 SubmittersRCV000807434 RCV003463825
NM_000546.6(TP53):c.518T>C (p.Val173Ala)	SNV Germline	Chr17:7675094	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Li-Fraumeni syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA16602486	rs_1057519747	4 SubmittersRCV000775880 RCV001237773 RCV002289516
NM_000546.6(TP53):c.404G>T (p.Cys135Phe)	SNV Germline/somatic	Chr17:7675208	Pathogenic/Likely pathogenic	Adrenal cortex carcinoma Li-Fraumeni syndrome 1 Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA16602985	rs_587781991	4 SubmittersRCV000425788 RCV004022199 RCV001203469 RCV000492398
NM_000546.6(TP53):c.403T>C (p.Cys135Arg)	SNV Germline	Chr17:7675209	Pathogenic/Likely pathogenic	Li-Fraumeni syndrome Li-Fraumeni syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA16602986	rs_1057519975	2 SubmittersRCV001383908 RCV004022200
NM_000546.6(TP53):c.405C>G (p.Cys135Trp)	SNV Germline	Chr17:7675207	Conflicting classifications of pathogenicity	Li-Fraumeni syndrome Condition: not provided Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA16602987	rs_1057519976	4 SubmittersRCV000556410 RCV000479510 RCV002289519 RCV002289518
NM_000546.6(TP53):c.403T>G (p.Cys135Gly)	SNV Germline/somatic	Chr17:7675209	Pathogenic	Ovarian neoplasm Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Li-Fraumeni syndrome 1	Reviewed By Expert Panel	CA16602989	rs_1057519975	4 SubmittersRCV000785515 RCV000570655 RCV000991142 RCV004022201
NM_000546.6(TP53):c.423C>G (p.Cys141Trp)	SNV Germline	Chr17:7675189	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome	Criteria Provided Multiple Submitters No Conflicts	CA16602990	rs_1057519977	2 SubmittersRCV000492201 RCV000467641
NM_000546.6(TP53):c.421T>C (p.Cys141Arg)	SNV Germline	Chr17:7675191	Conflicting classifications of pathogenicity	Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA16602991	rs_1057519978	2 SubmittersRCV001861481 RCV002328907
NM_000546.6(TP53):c.422G>T (p.Cys141Phe)	SNV Germline/somatic	Chr17:7675190	Conflicting classifications of pathogenicity	Squamous cell carcinoma of the head and neck Li-Fraumeni syndrome	Criteria Provided Conflicting Classifications	CA16602994	rs_587781288	2 SubmittersRCV000435499 RCV001214540
NM_000546.6(TP53):c.527G>T (p.Cys176Phe)	SNV Germline	Chr17:7675085	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Li-Fraumeni syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA16602995	rs_786202962	3 SubmittersRCV002348142 RCV001244047 RCV004022202
NM_000546.6(TP53):c.526T>A (p.Cys176Ser)	SNV Germline	Chr17:7675086	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Li-Fraumeni syndrome Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA16602996	rs_967461896	4 SubmittersRCV000492644 RCV001352918 RCV001060393 RCV004022203
NM_000546.6(TP53):c.526T>G (p.Cys176Gly)	SNV Germline/somatic	Chr17:7675086	Conflicting classifications of pathogenicity	Ovarian neoplasm Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA16602997	rs_967461896	4 SubmittersRCV000785535 RCV001023834 RCV003621529 RCV004022204
NM_000546.6(TP53):c.528C>G (p.Cys176Trp)	SNV Germline/somatic	Chr17:7675084	Conflicting classifications of pathogenicity	Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Ovarian neoplasm TP53-related disorder Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA16602998	rs_1057519980	7 SubmittersRCV000530055 RCV000567103 RCV000785243 RCV003401413 RCV004022205
NM_000546.6(TP53):c.526T>C (p.Cys176Arg)	SNV Germline/somatic	Chr17:7675086	Conflicting classifications of pathogenicity	Breast neoplasm Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Ovarian neoplasm Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA16602999	rs_967461896	5 SubmittersRCV000421755 RCV001044520 RCV001023833 RCV000785469 RCV004022206
NM_000546.6(TP53):c.713G>T (p.Cys238Phe)	SNV Germline	Chr17:7674250	Pathogenic/Likely pathogenic	Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA16603000	rs_730882005	4 SubmittersRCV000473420 RCV002365459 RCV004022207
NM_000546.6(TP53):c.713G>C (p.Cys238Ser)	SNV Germline	Chr17:7674250	Pathogenic/Likely pathogenic	Li-Fraumeni syndrome Li-Fraumeni syndrome 1 Condition: not provided Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA16603001	rs_730882005	6 SubmittersRCV001067780 RCV001523834 RCV001551247 RCV002289520
NM_000546.6(TP53):c.712T>C (p.Cys238Arg)	SNV Germline	Chr17:7674251	Pathogenic/Likely pathogenic	Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA16603002	rs_1057519981	4 SubmittersRCV000812726 RCV000492666 RCV002289521
NM_000546.6(TP53):c.712T>G (p.Cys238Gly)	SNV Germline/somatic	Chr17:7674251	Pathogenic	Ovarian neoplasm Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA16603003	rs_1057519981	3 SubmittersRCV000785550 RCV001390630 RCV002365460
NM_000546.6(TP53):c.725G>T (p.Cys242Phe)	SNV Germline/somatic	Chr17:7674238	Conflicting classifications of pathogenicity	Ovarian neoplasm Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Neoplasm	Criteria Provided Conflicting Classifications	CA501203	rs_121912655	4 SubmittersRCV000785473 RCV000688366 RCV002379285 RCV004668951
NM_000546.6(TP53):c.724T>A (p.Cys242Ser)	SNV Germline	Chr17:7674239	Conflicting classifications of pathogenicity	Li-Fraumeni syndrome 1 Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome	Criteria Provided Conflicting Classifications	CA16603004	rs_1057519982	4 SubmittersRCV000662594 RCV001026200 RCV001325155
NM_000546.6(TP53):c.726C>G (p.Cys242Trp)	SNV Germline	Chr17:7674237	Pathogenic	Li-Fraumeni syndrome	Criteria Provided Single Submitter	CA16603005	rs_375874539	1 SubmittersRCV003621530
NM_000546.6(TP53):c.724T>G (p.Cys242Gly)	SNV Germline	Chr17:7674239	Conflicting classifications of pathogenicity	Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA501041	rs_1057519982	2 SubmittersRCV000461418 RCV004791444
NM_000546.6(TP53):c.824G>T (p.Cys275Phe)	SNV Germline/somatic	Chr17:7673796	Pathogenic	Ovarian neoplasm Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA16603006	rs_863224451	3 SubmittersRCV000785323 RCV001861482 RCV004948279
NM_000546.6(TP53):c.824G>C (p.Cys275Ser)	SNV Germline	Chr17:7673796	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome	Criteria Provided Conflicting Classifications	CA16603007	rs_863224451	3 SubmittersRCV000580293 RCV002521506
NM_000546.6(TP53):c.823T>C (p.Cys275Arg)	SNV Germline	Chr17:7673797	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1 Li-Fraumeni syndrome	Criteria Provided Conflicting Classifications	CA16603008	rs_1057519983	3 SubmittersRCV001183954 RCV004022208 RCV002521507
NM_000546.6(TP53):c.841G>T (p.Asp281Tyr)	SNV Germline/somatic	Chr17:7673779	Pathogenic/Likely pathogenic	Li-Fraumeni syndrome Neoplasm Li-Fraumeni syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA16603009	rs_764146326	3 SubmittersRCV000792342 RCV004668952 RCV004022209
NM_000546.6(TP53):c.841G>A (p.Asp281Asn)	SNV Germline/somatic	Chr17:7673779	Pathogenic/Likely pathogenic	Li-Fraumeni syndrome Ovarian neoplasm Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA001503	rs_764146326	4 SubmittersRCV000824609 RCV000785452 RCV002446642
NM_000546.6(TP53):c.843C>G (p.Asp281Glu)	SNV Germline/somatic	Chr17:7673777	Conflicting classifications of pathogenicity	Ovarian neoplasm Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA10590135	rs_1057519984	3 SubmittersRCV000785286 RCV000633352 RCV002446643
NM_000546.6(TP53):c.841G>C (p.Asp281His)	SNV Germline/somatic	Chr17:7673779	Pathogenic/Likely pathogenic	Gallbladder cancer Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA16603010	rs_764146326	4 SubmittersRCV001292542 RCV001306199 RCV002446644 RCV004022210
NM_000546.6(TP53):c.856G>C (p.Glu286Gln)	SNV Germline/somatic	Chr17:7673764	Conflicting classifications of pathogenicity	Li-Fraumeni syndrome 1 Li-Fraumeni syndrome Neoplasm	Criteria Provided Conflicting Classifications	CA16603013	rs_786201059	3 SubmittersRCV004022211 RCV001048274 RCV004668953
NM_000546.6(TP53):c.857A>C (p.Glu286Ala)	SNV Unknown	Chr17:7673763	Likely pathogenic	Li-Fraumeni syndrome 1	Criteria Provided Single Submitter	CA16603015	rs_1057519985	1 SubmittersRCV004022212
NM_000546.6(TP53):c.809T>C (p.Phe270Ser)	SNV Germline	Chr17:7673811	Pathogenic/Likely pathogenic	Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Condition: not provided Li-Fraumeni syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA16603016	rs_1057519986	4 SubmittersRCV000824076 RCV002289523 RCV000481465 RCV002289522
NM_000546.6(TP53):c.808T>A (p.Phe270Ile)	SNV Germline/somatic	Chr17:7673812	Conflicting classifications of pathogenicity	Ovarian neoplasm Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA16603018	rs_1057519988	3 SubmittersRCV000785257 RCV001362325 RCV002418243
NM_000546.6(TP53):c.809T>G (p.Phe270Cys)	SNV Germline	Chr17:7673811	Conflicting classifications of pathogenicity	Adrenocortical carcinoma, hereditary Condition: not provided Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA16603019	rs_1057519986	5 SubmittersRCV003470375 RCV002508212 RCV001805037 RCV002524696 RCV004022213
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	Criteria Provided Conflicting Classifications	CA16603021	rs_1057519989	4 SubmittersRCV000538079 RCV001270273 RCV001567979 RCV002379286
NM_000546.6(TP53):c.730G>A (p.Gly244Ser)	SNV Germline/somatic	Chr17:7674233	Pathogenic	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Rhabdomyosarcoma Li-Fraumeni syndrome 1 Gastric cancer Malignant tumor of urinary bladder Adrenocortical carcinoma, hereditary Neoplasm	Criteria Provided Multiple Submitters No Conflicts	CA16603022	rs_1057519989	9 SubmittersRCV000492366 RCV000633372 RCV001257520 RCV002289524 RCV003168616 RCV003332172 RCV003476007 RCV004668954
NM_000546.6(TP53):c.731G>T (p.Gly244Val)	SNV Somatic	Chr17:7674232	Likely pathogenic	Ovarian neoplasm Li-Fraumeni syndrome 1	Criteria Provided Single Submitter	CA16603023	rs_985033810	2 SubmittersRCV000785338 RCV004022214
NM_000546.6(TP53):c.734G>T (p.Gly245Val)	SNV Germline/somatic	Chr17:7674229	Pathogenic	Adrenocortical carcinoma, hereditary Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Condition: not provided Neoplasm Li-Fraumeni syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA001743	rs_121912656	6 SubmittersRCV003476008 RCV000558455 RCV001026313 RCV001548147 RCV004668955 RCV002289525
NM_000546.6(TP53):c.733G>C (p.Gly245Arg)	SNV Germline	Chr17:7674230	Conflicting classifications of pathogenicity	Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA16603025	rs_28934575	3 SubmittersRCV000633351 RCV001026295 RCV004022215
NM_000546.6(TP53):c.796G>C (p.Gly266Arg)	SNV Germline	Chr17:7673824	Pathogenic	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Li-Fraumeni syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA16603026	rs_1057519990	3 SubmittersRCV001027017 RCV000803659 RCV002289526
NM_000546.6(TP53):c.536A>G (p.His179Arg)	SNV Germline/somatic	Chr17:7675076	Conflicting classifications of pathogenicity	Li-Fraumeni syndrome Ovarian neoplasm Hereditary cancer-predisposing syndrome Condition: not provided TP53-related disorder Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA16603027	rs_1057519991	9 SubmittersRCV000529132 RCV000785555 RCV001023983 RCV001591055 RCV003983035 RCV004022216
NM_000546.6(TP53):c.537T>G (p.His179Gln)	SNV Germline	Chr17:7675075	Pathogenic/Likely pathogenic	Li-Fraumeni syndrome Condition: not provided Li-Fraumeni syndrome 1 Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA16603028	rs_876660821	6 SubmittersRCV000815181 RCV002264935 RCV002289527 RCV001293868
NM_000546.6(TP53):c.536A>T (p.His179Leu)	SNV Germline	Chr17:7675076	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Adrenocortical carcinoma, hereditary Condition: not provided Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA16603029	rs_1057519991	5 SubmittersRCV002348143 RCV000705316 RCV003476009 RCV004721352 RCV004022217
NM_000546.6(TP53):c.535C>A (p.His179Asn)	SNV Germline	Chr17:7675077	Conflicting classifications of pathogenicity	Li-Fraumeni syndrome Condition: not provided Li-Fraumeni syndrome 1 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA16603030	rs_587780070	4 SubmittersRCV000695193 RCV001575036 RCV004022218 RCV000564826
NM_000546.6(TP53):c.535C>G (p.His179Asp)	SNV Germline	Chr17:7675077	Pathogenic/Likely pathogenic	not specified Li-Fraumeni syndrome 1 Hereditary cancer-predisposing syndrome Adrenocortical carcinoma, hereditary Li-Fraumeni syndrome	Criteria Provided Multiple Submitters No Conflicts	CA16603031	rs_587780070	5 SubmittersRCV002465649 RCV003335320 RCV002348144 RCV003470376 RCV001851020
NM_000546.6(TP53):c.536A>C (p.His179Pro)	SNV Germline	Chr17:7675076	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome	Criteria Provided Conflicting Classifications	CA16603032	rs_1057519991	2 SubmittersRCV001023982 RCV001861483
NM_000546.6(TP53):c.578A>C (p.His193Pro)	SNV Germline	Chr17:7674953	Pathogenic	Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome	Reviewed By Expert Panel	CA16603033	rs_786201838	4 SubmittersRCV000991151 RCV001525967
NM_000546.6(TP53):c.577C>G (p.His193Asp)	SNV Germline	Chr17:7674954	Conflicting classifications of pathogenicity	Li-Fraumeni syndrome 1 Li-Fraumeni syndrome	Criteria Provided Conflicting Classifications	CA16603034	rs_876658468	2 SubmittersRCV004022219 RCV003509527
NM_000546.6(TP53):c.641A>G (p.His214Arg)	SNV Germline	Chr17:7674890	Pathogenic	Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Condition: not provided Li-Fraumeni syndrome 1	Reviewed By Expert Panel	CA16040595	rs_1057519992	9 SubmittersRCV000477234 RCV000492372 RCV001584113 RCV004022220
NM_000546.6(TP53):c.583A>T (p.Ile195Phe)	SNV Germline/somatic	Chr17:7674948	Conflicting classifications of pathogenicity	Li-Fraumeni syndrome Condition: not provided Malignant tumor of esophagus Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA16603037	rs_942158624	4 SubmittersRCV001345722 RCV003329275 RCV001270271 RCV002356515
NM_000546.6(TP53):c.584T>A (p.Ile195Asn)	SNV Germline/somatic	Chr17:7674947	Conflicting classifications of pathogenicity	Li-Fraumeni syndrome Ovarian neoplasm Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA16603038	rs_760043106	4 SubmittersRCV000692717 RCV000785514 RCV001024599 RCV002289528
NM_000546.6(TP53):c.584T>G (p.Ile195Ser)	SNV Germline	Chr17:7674947	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA16603039	rs_760043106	2 SubmittersRCV001184465 RCV004022221
NM_000546.6(TP53):c.763A>T (p.Ile255Phe)	SNV Germline/somatic	Chr17:7674200	Conflicting classifications of pathogenicity	Ovarian neoplasm Li-Fraumeni syndrome 1 Neoplasm Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA16603041	rs_1057519995	5 SubmittersRCV000785451 RCV004022222 RCV004668956 RCV001301950 RCV002392946
NM_000546.6(TP53):c.396G>C (p.Lys132Asn)	SNV Germline	Chr17:7675216	Likely pathogenic	Squamous cell carcinoma of the head and neck Li-Fraumeni syndrome Li-Fraumeni syndrome 1 Condition: not provided	Reviewed By Expert Panel	CA16603044	rs_866775781	5 SubmittersRCV000424592 RCV000709407 RCV004022223 RCV004719814
NM_000546.6(TP53):c.395A>G (p.Lys132Arg)	SNV Germline/somatic	Chr17:7675217	Pathogenic/Likely pathogenic	Li-Fraumeni syndrome Ovarian neoplasm Li-Fraumeni syndrome 1 TP53-related disorder Hereditary cancer-predisposing syndrome Neoplasm	Criteria Provided Multiple Submitters No Conflicts	CA16603045	rs_1057519996	7 SubmittersRCV000471183 RCV000785521 RCV004022224 RCV004797608 RCV002356517 RCV004668957
NM_000546.6(TP53):c.394A>G (p.Lys132Glu)	SNV Germline	Chr17:7675218	Conflicting classifications of pathogenicity	Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA002647	rs_747342068	6 SubmittersRCV000468362 RCV000562533 RCV001253548 RCV004017609
NM_000546.6(TP53):c.395A>C (p.Lys132Thr)	SNV Germline	Chr17:7675217	Conflicting classifications of pathogenicity	Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA16603046	rs_1057519996	2 SubmittersRCV003621532 RCV004022225
NM_000546.6(TP53):c.394A>C (p.Lys132Gln)	SNV Germline	Chr17:7675218	Conflicting classifications of pathogenicity	Li-Fraumeni syndrome Adrenocortical carcinoma, hereditary Li-Fraumeni syndrome 1 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA16603047	rs_747342068	4 SubmittersRCV001205860 RCV003463827 RCV004022226 RCV004678695
NM_000546.6(TP53):c.395A>T (p.Lys132Met)	SNV Germline/somatic	Chr17:7675217	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Neoplasm	Criteria Provided Conflicting Classifications	CA16603048	rs_1057519996	3 SubmittersRCV004678696 RCV000546420 RCV004668958
NM_000546.6(TP53):c.332T>C (p.Leu111Pro)	SNV Germline/somatic	Chr17:7676037	Conflicting classifications of pathogenicity	Condition: not provided Li-Fraumeni syndrome Li-Fraumeni syndrome 1 Ovarian neoplasm Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA16603049	rs_1057519997	5 SubmittersRCV000480700 RCV000459042 RCV004022227 RCV000785496 RCV004791445
NM_000546.6(TP53):c.332T>A (p.Leu111Gln)	SNV Germline	Chr17:7676037	Conflicting classifications of pathogenicity	Li-Fraumeni syndrome Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA16603051	rs_1057519997	2 SubmittersRCV001041362 RCV004022228
NM_000546.6(TP53):c.581T>G (p.Leu194Arg)	SNV Germline/somatic	Chr17:7674950	Conflicting classifications of pathogenicity	Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Ovarian neoplasm Colorectal cancer Li-Fraumeni syndrome 1 Hereditary breast ovarian cancer syndrome TP53-related disorder	Criteria Provided Conflicting Classifications	CA16044097	rs_1057519998	6 SubmittersRCV000535418 RCV000561306 RCV000785551 RCV001270270 RCV004022229 RCV004764786 RCV004797609
NM_000546.6(TP53):c.581T>A (p.Leu194His)	SNV Germline/somatic	Chr17:7674950	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Ovarian neoplasm Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA16603052	rs_1057519998	4 SubmittersRCV000565549 RCV001376885 RCV000785543 RCV004022230
NM_000546.6(TP53):c.710T>A (p.Met237Lys)	SNV Germline/somatic	Chr17:7674253	Pathogenic/Likely pathogenic	Li-Fraumeni syndrome Acute myeloid leukemia Li-Fraumeni syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA001811	rs_765848205	3 SubmittersRCV002524697 RCV002509381 RCV004022231
NM_000546.6(TP53):c.716A>G (p.Asn239Ser)	SNV Germline	Chr17:7674247	Likely pathogenic	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1 Condition: not provided Li-Fraumeni syndrome	Criteria Provided Multiple Submitters No Conflicts	CA16603054	rs_1057519999	5 SubmittersRCV000567507 RCV002289529 RCV002510885 RCV001851021
NM_000546.6(TP53):c.716A>C (p.Asn239Thr)	SNV Germline	Chr17:7674247	Conflicting classifications of pathogenicity	Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA16603055	rs_1057519999	2 SubmittersRCV000633336 RCV002374626
NM_000546.6(TP53):c.452C>G (p.Pro151Arg)	SNV Germline	Chr17:7675160	Pathogenic/Likely pathogenic	Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA16603057	rs_1057520000	4 SubmittersRCV000633382 RCV003168617 RCV004022232
NM_000546.6(TP53):c.451C>G (p.Pro151Ala)	SNV Germline	Chr17:7675161	Pathogenic	Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA16603058	rs_28934874	2 SubmittersRCV000459465 RCV002338981
NM_000546.6(TP53):c.832C>T (p.Pro278Ser)	SNV Germline/somatic	Chr17:7673788	Pathogenic/Likely pathogenic	Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Condition: not provided Ovarian neoplasm TP53-related disorder Li-Fraumeni syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA16603059	rs_17849781	7 SubmittersRCV000633344 RCV000562528 RCV000522600 RCV000785527 RCV004797610 RCV004022233
NM_000546.6(TP53):c.832C>A (p.Pro278Thr)	SNV Germline/somatic	Chr17:7673788	Pathogenic/Likely pathogenic	Li-Fraumeni syndrome 1 Poly (ADP-Ribose) polymerase inhibitor response Ovarian neoplasm Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome	Criteria Provided Multiple Submitters No Conflicts	CA16603060	rs_17849781	5 SubmittersRCV004022234 RCV000626445 RCV000785511 RCV002429348 RCV002524698
NM_000546.6(TP53):c.833C>G (p.Pro278Arg)	SNV Germline/somatic	Chr17:7673787	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Condition: not provided Ovarian neoplasm Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA16603061	rs_876659802	6 SubmittersRCV000572417 RCV000797363 RCV000681956 RCV000785498 RCV002289530
NM_000546.6(TP53):c.832C>G (p.Pro278Ala)	SNV Germline/somatic	Chr17:7673788	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Ovarian neoplasm Li-Fraumeni syndrome 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA16603062	rs_17849781	5 SubmittersRCV000567850 RCV000688854 RCV000785477 RCV004022235 RCV001584114
NM_000546.6(TP53):c.833C>A (p.Pro278His)	SNV Germline	Chr17:7673787	Conflicting classifications of pathogenicity	Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1 Adrenocortical carcinoma, hereditary	Criteria Provided Conflicting Classifications	CA16603063	rs_876659802	5 SubmittersRCV000633329 RCV001017582 RCV002289531 RCV004567903
NM_000546.6(TP53):c.523C>G (p.Arg175Gly)	SNV Germline/somatic	Chr17:7675089	Pathogenic	Li-Fraumeni syndrome Neoplasm Hereditary cancer-predisposing syndrome Ovarian neoplasm Li-Fraumeni syndrome 1 Condition: not provided	Reviewed By Expert Panel	CA16603066	rs_138729528	10 SubmittersRCV000459914 RCV004668959 RCV000573315 RCV000785486 RCV002289532 RCV001584115
NM_000546.6(TP53):c.638G>T (p.Arg213Leu)	SNV Germline	Chr17:7674893	Conflicting classifications of pathogenicity	Li-Fraumeni syndrome Li-Fraumeni syndrome 1 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA16603067	rs_587778720	3 SubmittersRCV001371092 RCV004022236 RCV004948280
NM_000546.6(TP53):c.637C>G (p.Arg213Gly)	SNV Germline	Chr17:7674894	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1 Li-Fraumeni syndrome	Criteria Provided Conflicting Classifications	CA16603068	rs_397516436	3 SubmittersRCV002356518 RCV004022237 RCV002524699
NM_000546.6(TP53):c.742C>G (p.Arg248Gly)	SNV Germline	Chr17:7674221	Pathogenic/Likely pathogenic	Carcinoma of colon Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA16603069	rs_121912651	4 SubmittersRCV000626118 RCV000633396 RCV001026425 RCV004022238
NM_000546.6(TP53):c.746G>T (p.Arg249Met)	SNV Germline/somatic	Chr17:7674217	Conflicting classifications of pathogenicity	Li-Fraumeni syndrome Ovarian neoplasm Li-Fraumeni syndrome 1 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA16603070	rs_587782329	5 SubmittersRCV000690948 RCV000782360 RCV004022239 RCV004948281
NM_000546.6(TP53):c.745A>G (p.Arg249Gly)	SNV Germline/somatic	Chr17:7674218	Conflicting classifications of pathogenicity	Li-Fraumeni syndrome Condition: not provided Ovarian neoplasm Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA16603071	rs_587782082	6 SubmittersRCV000467567 RCV000581522 RCV000785305 RCV001026460 RCV002289533
NM_000546.6(TP53):c.818G>T (p.Arg273Leu)	SNV Germline/somatic	Chr17:7673802	Pathogenic	Hereditary cancer-predisposing syndrome Ovarian neoplasm Li-Fraumeni syndrome Condition: not provided Li-Fraumeni syndrome 1 12 conditions Neoplasm Neuroendocrine pancreatic tumor	Criteria Provided Multiple Submitters No Conflicts	CA001530	rs_28934576	9 SubmittersRCV000568814 RCV000785524 RCV000822080 RCV001539823 RCV002289534 RCV002502455 RCV004668960 RCV004813095
NM_000546.6(TP53):c.817C>A (p.Arg273Ser)	SNV Germline	Chr17:7673803	Pathogenic	Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA001542	rs_121913343	4 SubmittersRCV000698744 RCV000561782 RCV002289535
NM_000546.6(TP53):c.839G>A (p.Arg280Lys)	SNV Germline	Chr17:7673781	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Squamous cell carcinoma of the head and neck Li-Fraumeni syndrome	Criteria Provided Conflicting Classifications	CA16603072	rs_121912660	3 SubmittersRCV000492483 RCV000423448 RCV000633356
NM_000546.6(TP53):c.838A>G (p.Arg280Gly)	SNV Germline/somatic	Chr17:7673782	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Ovarian neoplasm Adrenocortical carcinoma, hereditary Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA16603073	rs_753660142	6 SubmittersRCV000568150 RCV000706131 RCV000785300 RCV003476010 RCV004022240
NM_000546.6(TP53):c.845G>C (p.Arg282Pro)	SNV Germline	Chr17:7673775	Pathogenic/Likely pathogenic	Squamous cell carcinoma of the head and neck Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Li-Fraumeni syndrome 1 12 conditions	Criteria Provided Multiple Submitters No Conflicts	CA16603074	rs_730882008	7 SubmittersRCV000442220 RCV000492764 RCV000709402 RCV002289536 RCV002502456
NM_000546.6(TP53):c.644G>T (p.Ser215Ile)	SNV Germline/somatic	Chr17:7674887	Conflicting classifications of pathogenicity	Ovarian neoplasm Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome	Criteria Provided Conflicting Classifications	CA16603075	rs_587782177	3 SubmittersRCV000785347 RCV001025280 RCV003509529
NM_000546.6(TP53):c.645T>G (p.Ser215Arg)	SNV Germline/somatic	Chr17:7674886	Conflicting classifications of pathogenicity	Li-Fraumeni syndrome Li-Fraumeni syndrome 1 Ovarian neoplasm Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA16603076	rs_1057520001	6 SubmittersRCV000465501 RCV000662560 RCV000785463 RCV002289537 RCV004786685
NM_000546.6(TP53):c.644G>A (p.Ser215Asn)	SNV Germline	Chr17:7674887	Conflicting classifications of pathogenicity	Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Adrenocortical carcinoma, hereditary Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA16603077	rs_587782177	4 SubmittersRCV000816006 RCV000492171 RCV003476011 RCV004022241
NM_000546.6(TP53):c.722C>A (p.Ser241Tyr)	SNV Germline/somatic	Chr17:7674241	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Ovarian neoplasm Li-Fraumeni syndrome Condition: not provided Neoplasm Li-Fraumeni syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA16603078	rs_28934573	6 SubmittersRCV002289539 RCV000785454 RCV001053974 RCV001576591 RCV004668961 RCV002289538
NM_000546.6(TP53):c.721T>G (p.Ser241Ala)	SNV Germline	Chr17:7674242	Conflicting classifications of pathogenicity	Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA16603080	rs_1057520002	4 SubmittersRCV001045859 RCV002374627 RCV004022242
NM_000546.6(TP53):c.373A>C (p.Thr125Pro)	SNV Germline	Chr17:7675996	Conflicting classifications of pathogenicity	Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA16603081	rs_1057520003	3 SubmittersRCV001041773 RCV004022244 RCV004022243
NM_000546.6(TP53):c.374C>G (p.Thr125Arg)	SNV Germline/somatic	Chr17:7675995	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Li-Fraumeni syndrome 1 Condition: not provided Neoplasm	Criteria Provided Multiple Submitters No Conflicts	CA16044089	rs_786201057	8 SubmittersRCV000492090 RCV000524926 RCV002289540 RCV004719815 RCV004668962
NM_000546.6(TP53):c.517G>T (p.Val173Leu)	SNV Germline/somatic	Chr17:7675095	Pathogenic/Likely pathogenic	Li-Fraumeni syndrome 1 Li-Fraumeni syndrome Ovarian neoplasm Condition: not provided Hereditary cancer-predisposing syndrome Neoplasm	Criteria Provided Multiple Submitters No Conflicts	CA16603082	rs_876660754	7 SubmittersRCV002289541 RCV000694763 RCV000785539 RCV001821147 RCV002289542 RCV004668963
NM_000546.6(TP53):c.518T>A (p.Val173Glu)	SNV Germline	Chr17:7675094	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1 not specified Li-Fraumeni syndrome	Criteria Provided Conflicting Classifications	CA16603083	rs_1057519747	4 SubmittersRCV000574130 RCV004022245 RCV000582350 RCV002524700
NM_000546.6(TP53):c.646G>T (p.Val216Leu)	SNV Germline/somatic	Chr17:7674885	Conflicting classifications of pathogenicity	Ovarian neoplasm Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Condition: not provided Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA16603084	rs_730882025	6 SubmittersRCV000785309 RCV001042741 RCV002365461 RCV003321589 RCV004022246
NM_000546.6(TP53):c.647T>G (p.Val216Gly)	SNV Germline	Chr17:7674884	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome	Criteria Provided Conflicting Classifications	CA16603085	rs_1057520004	2 SubmittersRCV004678697 RCV001202958
NM_000546.6(TP53):c.815T>A (p.Val272Glu)	SNV Germline	Chr17:7673805	Conflicting classifications of pathogenicity	Li-Fraumeni syndrome Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA16603087	rs_876660333	2 SubmittersRCV001228585 RCV004022247
NM_000546.6(TP53):c.820G>T (p.Val274Phe)	SNV Germline/somatic	Chr17:7673800	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Lip and oral cavity carcinoma Li-Fraumeni syndrome Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA16603088	rs_1057520005	4 SubmittersRCV002429349 RCV001255677 RCV001344689 RCV004022248
NM_000546.6(TP53):c.821T>A (p.Val274Asp)	SNV Germline	Chr17:7673799	Conflicting classifications of pathogenicity	Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA16603089	rs_1057520006	2 SubmittersRCV001229449 RCV003168618
NM_000546.6(TP53):c.821T>G (p.Val274Gly)	SNV Germline/somatic	Chr17:7673799	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Lip and oral cavity carcinoma Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA16603090	rs_1057520006	4 SubmittersRCV000492506 RCV000692432 RCV001255678 RCV004022249
NM_000546.6(TP53):c.821T>C (p.Val274Ala)	SNV Germline	Chr17:7673799	Conflicting classifications of pathogenicity	Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA16603091	rs_1057520006	2 SubmittersRCV001056029 RCV002429350
NM_000546.6(TP53):c.820G>C (p.Val274Leu)	SNV Germline	Chr17:7673800	Conflicting classifications of pathogenicity	Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA16603092	rs_1057520005	2 SubmittersRCV000701251 RCV004948282
NM_000546.6(TP53):c.487T>A (p.Tyr163Asn)	SNV Germline	Chr17:7675125	Conflicting classifications of pathogenicity	Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA16603093	rs_786203436	3 SubmittersRCV000633347 RCV002338982 RCV004022250
NM_000546.6(TP53):c.487T>C (p.Tyr163His)	SNV Germline	Chr17:7675125	Conflicting classifications of pathogenicity	Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1 Adrenocortical carcinoma, hereditary	Criteria Provided Conflicting Classifications	CA16603094	rs_786203436	4 SubmittersRCV001071488 RCV001023195 RCV002289543 RCV003476012
NM_000546.6(TP53):c.614A>G (p.Tyr205Cys)	SNV Germline	Chr17:7674917	Pathogenic	Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Condition: not provided Li-Fraumeni syndrome 1 TP53-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA16603095	rs_1057520007	5 SubmittersRCV000704312 RCV002356520 RCV004721353 RCV004022251 RCV004745373
NM_000546.6(TP53):c.613T>A (p.Tyr205Asn)	SNV Germline	Chr17:7674918	Conflicting classifications of pathogenicity	Li-Fraumeni syndrome 1 Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome	Criteria Provided Conflicting Classifications	CA16603098	rs_1057520008	5 SubmittersRCV000662621 RCV001024933 RCV001851022
NM_000546.6(TP53):c.613T>C (p.Tyr205His)	SNV Germline	Chr17:7674918	Pathogenic/Likely pathogenic	Li-Fraumeni syndrome 1 Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome	Criteria Provided Multiple Submitters No Conflicts	CA16603099	rs_1057520008	4 SubmittersRCV004022252 RCV000775886 RCV000819983
NM_000546.6(TP53):c.613T>G (p.Tyr205Asp)	SNV Germline	Chr17:7674918	Conflicting classifications of pathogenicity	Li-Fraumeni syndrome Li-Fraumeni syndrome 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA16603100	rs_1057520008	4 SubmittersRCV000462351 RCV000663307 RCV003441853
NM_000546.6(TP53):c.658T>C (p.Tyr220His)	SNV Germline/somatic	Chr17:7674873	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Adrenocortical carcinoma, hereditary Ovarian neoplasm Li-Fraumeni syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA002135	rs_530941076	6 SubmittersRCV000566866 RCV001215103 RCV003476013 RCV000785254 RCV004022253
NM_000546.6(TP53):c.658T>A (p.Tyr220Asn)	SNV Germline	Chr17:7674873	Conflicting classifications of pathogenicity	Li-Fraumeni syndrome Li-Fraumeni syndrome 1 Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA16603101	rs_530941076	4 SubmittersRCV001313857 RCV004022254 RCV000570507 RCV001575028
NM_000546.6(TP53):c.658T>G (p.Tyr220Asp)	SNV Germline	Chr17:7674873	Conflicting classifications of pathogenicity	Li-Fraumeni syndrome Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA16603102	rs_530941076	2 SubmittersRCV001851023 RCV004022255
NM_000546.6(TP53):c.701A>C (p.Tyr234Ser)	SNV Germline	Chr17:7674262	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome	Criteria Provided Conflicting Classifications	CA16603103	rs_587780073	2 SubmittersRCV001025931 RCV001341542
NM_000546.6(TP53):c.700T>C (p.Tyr234His)	SNV Germline/somatic	Chr17:7674263	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Ovarian neoplasm Li-Fraumeni syndrome 1 Neoplasm Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA16603104	rs_864622237	7 SubmittersRCV000492782 RCV000530551 RCV000785304 RCV002289544 RCV004668964 RCV004719816
NM_000546.6(TP53):c.700T>A (p.Tyr234Asn)	SNV Germline	Chr17:7674263	Pathogenic	Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA16603105	rs_864622237	2 SubmittersRCV000809457 RCV001025925
NM_000546.6(TP53):c.707A>G (p.Tyr236Cys)	SNV Germline/somatic	Chr17:7674256	Conflicting classifications of pathogenicity	Ovarian neoplasm Li-Fraumeni syndrome Condition: not provided Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1 Neoplasm	Criteria Provided Conflicting Classifications	CA16603106	rs_730882026	8 SubmittersRCV000785279 RCV001201781 RCV001559774 RCV002365462 RCV004022256 RCV004668965
NM_000546.6(TP53):c.706T>A (p.Tyr236Asn)	SNV Germline	Chr17:7674257	Conflicting classifications of pathogenicity	Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA16040589	rs_587782289	4 SubmittersRCV000463978 RCV000566931 RCV002289545
NM_000546.6(TP53):c.993+1G>C	SNV Germline/somatic	Chr17:7673534	Pathogenic/Likely pathogenic	Condition: not provided Li-Fraumeni syndrome Li-Fraumeni syndrome 1 Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA16607519	rs_11575997	5 SubmittersRCV000429174 RCV000799825 RCV002289556 RCV002289557
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.717C>G (p.Asn239Lys)	SNV Germline	Chr17:7674246	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Adrenocortical carcinoma, hereditary	Criteria Provided Conflicting Classifications	CA16607851	rs_1057522275	5 SubmittersRCV000431317 RCV000492173 RCV000529909 RCV003463830
NM_000546.6(TP53):c.673-1G>A	SNV Germline	Chr17:7674291	Pathogenic	Condition: not provided Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Li-Fraumeni syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA16607882	rs_878854073	6 SubmittersRCV000418491 RCV000708630 RCV001034938 RCV002289552
NM_000546.6(TP53):c.672+9T>C	SNV Germline	Chr17:7674850	Conflicting classifications of pathogenicity	not specified Li-Fraumeni syndrome	Criteria Provided Conflicting Classifications	CA16607883	rs_1057521030	4 SubmittersRCV000425870 RCV001424406
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	Criteria Provided Conflicting Classifications	CA004012	rs_375229869	5 SubmittersRCV000434247 RCV000583581 RCV002289573 RCV002488960
NM_000546.6(TP53):c.1101-3C>T	SNV Germline	Chr17:7669693	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA16608655	rs_1057521167	4 SubmittersRCV001805046 RCV001861512 RCV004719077
NM_000546.6(TP53):c.919+7A>C	SNV Germline	Chr17:7673694	Conflicting classifications of pathogenicity	not specified Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1 TP53-related disorder	Criteria Provided Conflicting Classifications	CA001336	rs_199527475	7 SubmittersRCV000421770 RCV000459858 RCV000580655 RCV002289568 RCV003942414
NM_000546.6(TP53):c.880G>T (p.Glu294Ter)	SNV Germline/somatic	Chr17:7673740	Pathogenic	Condition: not provided Ovarian neoplasm Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA16608665	rs_1057520607	4 SubmittersRCV000433836 RCV001527467 RCV002374641 RCV004022313
NM_000546.6(TP53):c.96+15T>C	SNV Germline	Chr17:7676367	Conflicting classifications of pathogenicity	not specified Li-Fraumeni syndrome 1 Li-Fraumeni syndrome	Criteria Provided Conflicting Classifications	CA16608670	rs_200053580	3 SubmittersRCV000419666 RCV001124309 RCV002061601
NM_000546.6(TP53):c.993+8G>A	SNV Germline	Chr17:7673527	Conflicting classifications of pathogenicity	Li-Fraumeni syndrome Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA16615685	rs_1060504163	2 SubmittersRCV000471374 RCV001127284
NM_000546.6(TP53):c.920-1G>C	SNV Germline	Chr17:7673609	Pathogenic	Li-Fraumeni syndrome Condition: not provided	Criteria Provided Single Submitter	CA16615686	rs_587781702	2 SubmittersRCV000458070 RCV003151060
NM_000546.6(TP53):c.783-4G>A	SNV Germline	Chr17:7673841	Conflicting classifications of pathogenicity	Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA16615687	rs_1060504160	4 SubmittersRCV000468122 RCV001181991
NM_000546.6(TP53):c.951G>T (p.Gln317His)	SNV Germline	Chr17:7673577	Conflicting classifications of pathogenicity	Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA16615689	rs_1060501199	2 SubmittersRCV000477030 RCV002374764
NM_000546.6(TP53):c.932A>G (p.Asn311Ser)	SNV Germline	Chr17:7673596	Conflicting classifications of pathogenicity	Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA16615690	rs_56184981	4 SubmittersRCV000473016 RCV001805064 RCV002289599
NM_000546.6(TP53):c.663G>A (p.Glu221=)	SNV Germline	Chr17:7674868	Conflicting classifications of pathogenicity	Condition: not provided Li-Fraumeni syndrome	Criteria Provided Conflicting Classifications	CA16615692	rs_1060504161	2 SubmittersRCV000483671 RCV001421969
NM_000546.6(TP53):c.905G>A (p.Gly302Glu)	SNV Germline	Chr17:7673715	Conflicting classifications of pathogenicity	Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA16615695	rs_1060501202	3 SubmittersRCV000468864 RCV001018766 RCV002289600
NM_000546.6(TP53):c.574C>T (p.Gln192Ter)	SNV Germline/somatic	Chr17:7674957	Pathogenic	Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Malignant tumor of breast Li-Fraumeni syndrome 1 Adrenal cortex carcinoma Neoplasm	Criteria Provided Multiple Submitters No Conflicts	CA16615700	rs_866380588	7 SubmittersRCV000472712 RCV001024481 RCV001358339 RCV002289596 RCV004000747 RCV004668979
NM_000546.6(TP53):c.783-2A>G	SNV Germline	Chr17:7673839	Pathogenic	Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA16615702	rs_1060501207	2 SubmittersRCV000464087 RCV002411441
NM_000546.6(TP53):c.773A>G (p.Glu258Gly)	SNV Germline	Chr17:7674190	Conflicting classifications of pathogenicity	Li-Fraumeni syndrome Bone osteosarcoma Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA16615703	rs_1060501201	3 SubmittersRCV000459389 RCV002272239 RCV004022605
NM_000546.6(TP53):c.537T>A (p.His179Gln)	SNV Germline/somatic	Chr17:7675075	Pathogenic	Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Ovarian neoplasm Acute myeloid leukemia	Reviewed By Expert Panel	CA16615708	rs_876660821	5 SubmittersRCV000464573 RCV000567952 RCV001527472 RCV003159559
NM_000546.6(TP53):c.464C>A (p.Thr155Asn)	SNV Germline	Chr17:7675148	Conflicting classifications of pathogenicity	Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome not specified Condition: not provided Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA16615709	rs_786202752	6 SubmittersRCV000473602 RCV000492645 RCV000506226 RCV002269272 RCV004022603
NM_000546.6(TP53):c.727A>G (p.Met243Val)	SNV Germline	Chr17:7674236	Conflicting classifications of pathogenicity	Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA16615711	rs_786203117	5 SubmittersRCV000464185 RCV000562254 RCV002289590
NM_000546.6(TP53):c.329G>T (p.Arg110Leu)	SNV Germline/somatic	Chr17:7676040	Pathogenic/Likely pathogenic	Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Ovarian neoplasm Li-Fraumeni syndrome 1 Adrenal cortex carcinoma Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA002845	rs_11540654	10 SubmittersRCV000473145 RCV000492590 RCV000785348 RCV002289602 RCV004000748 RCV004999438
NM_000546.6(TP53):c.132G>A (p.Met44Ile)	SNV Germline	Chr17:7676237	Conflicting classifications of pathogenicity	Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA16615713	rs_1060501190	3 SubmittersRCV000459820 RCV001011072 RCV002289589
NM_000546.6(TP53):c.103T>A (p.Leu35Met)	SNV Germline	Chr17:7676266	Conflicting classifications of pathogenicity	Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA16615715	rs_1060501211	3 SubmittersRCV000470404 RCV000572574 RCV002289606
NM_000546.6(TP53):c.664C>T (p.Pro222Ser)	SNV Germline	Chr17:7674867	Conflicting classifications of pathogenicity	Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA16615720	rs_1060501203	4 SubmittersRCV000477098 RCV000564109 RCV003318578
NM_000546.6(TP53):c.530C>T (p.Pro177Leu)	SNV Germline/somatic	Chr17:7675082	Conflicting classifications of pathogenicity	Li-Fraumeni syndrome Condition: not provided Hereditary cancer-predisposing syndrome Neoplasm	Criteria Provided Conflicting Classifications	CA16615728	rs_751477326	6 SubmittersRCV000477631 RCV000759377 RCV002348300 RCV004668980
NM_000546.6(TP53):c.321C>A (p.Tyr107Ter)	SNV Germline/somatic	Chr17:7676048	Pathogenic	Li-Fraumeni syndrome Neoplasm	Criteria Provided Single Submitter	CA16615729	rs_770776262	2 SubmittersRCV000473161 RCV004668981
NM_000546.6(TP53):c.313G>C (p.Gly105Arg)	SNV Germline	Chr17:7676056	Pathogenic/Likely pathogenic	Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA16615732	rs_1060501195	3 SubmittersRCV000475325 RCV000492606 RCV002289594
NM_000546.6(TP53):c.79C>A (p.Pro27Thr)	SNV Germline	Chr17:7676399	Conflicting classifications of pathogenicity	Li-Fraumeni syndrome Condition: not provided Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA16615735	rs_922736614	4 SubmittersRCV000468603 RCV000986054 RCV002289604 RCV002289603
NM_000546.6(TP53):c.920-5C>A	SNV Germline	Chr17:7673613	Conflicting classifications of pathogenicity	Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA16615935	rs_34361146	2 SubmittersRCV000471798 RCV002374840
NM_000546.6(TP53):c.843C>A (p.Asp281Glu)	SNV Germline/somatic	Chr17:7673777	Likely pathogenic	Li-Fraumeni syndrome Carcinoma of colon Condition: not provided Ovarian neoplasm Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA16615937	rs_1057519984	5 SubmittersRCV000470818 RCV000499361 RCV000658764 RCV000785325 RCV002446795
NM_000546.6(TP53):c.811G>A (p.Glu271Lys)	SNV Germline	Chr17:7673809	Conflicting classifications of pathogenicity	Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Condition: not provided Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype	Criteria Provided Conflicting Classifications	CA16615939	rs_1060501191	5 SubmittersRCV000457572 RCV000775714 RCV001815331 RCV003315242
NM_000546.6(TP53):c.747G>C (p.Arg249Ser)	SNV Germline	Chr17:7674216	Conflicting classifications of pathogenicity	Li-Fraumeni syndrome Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA16615944	rs_28934571	2 SubmittersRCV000465003 RCV004022606
NM_000546.6(TP53):c.646G>C (p.Val216Leu)	SNV Germline/somatic	Chr17:7674885	Conflicting classifications of pathogenicity	Li-Fraumeni syndrome Squamous cell carcinoma of the head and neck	Criteria Provided Conflicting Classifications	CA16615950	rs_730882025	2 SubmittersRCV000466409 RCV001270272
NM_000546.6(TP53):c.139C>A (p.Pro47Thr)	SNV Germline	Chr17:7676230	Conflicting classifications of pathogenicity	Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA16615959	rs_1800371	5 SubmittersRCV000463583 RCV000774798 RCV002289605
NM_000546.6(TP53):c.11C>G (p.Pro4Arg)	SNV Germline	Chr17:7676584	Conflicting classifications of pathogenicity	Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA16615964	rs_878854064	3 SubmittersRCV000475451 RCV001010274 RCV002289597
NM_000546.6(TP53):c.941C>T (p.Ser314Phe)	SNV Germline	Chr17:7673587	Conflicting classifications of pathogenicity	Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1 Adrenocortical carcinoma, hereditary	Criteria Provided Conflicting Classifications	CA001234	rs_751440465	5 SubmittersRCV000456310 RCV000570325 RCV002289598 RCV004567972
NM_000546.6(TP53):c.924G>C (p.Leu308=)	SNV Germline	Chr17:7673604	Conflicting classifications of pathogenicity	Li-Fraumeni syndrome not specified Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA16615992	rs_786202546	5 SubmittersRCV000462950 RCV000506600 RCV000575062
NM_000546.6(TP53):c.740A>G (p.Asn247Ser)	SNV Germline	Chr17:7674223	Conflicting classifications of pathogenicity	Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA16615997	rs_786201762	2 SubmittersRCV000457243 RCV002379430
NM_007194.4(CHEK2):c.1461+5G>A	SNV Germline	Chr22:28694027	Conflicting classifications of pathogenicity	Familial cancer of breast Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 2	Criteria Provided Conflicting Classifications	CA16616302	rs_769841229	7 SubmittersRCV000468962 RCV000561946 RCV003444238
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 Li-Fraumeni syndrome 2	Criteria Provided Conflicting Classifications	CA10167900	rs_748636216	6 SubmittersRCV000465132 RCV000568008 RCV001555558 RCV004595507
NM_000546.6(TP53):c.992A>G (p.Gln331Arg)	SNV Germline	Chr17:7673536	Conflicting classifications of pathogenicity	Condition: not provided Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA16620611	rs_1064795056	4 SubmittersRCV000479182 RCV001037256 RCV002289637 RCV002289636
NM_000546.6(TP53):c.970G>C (p.Asp324His)	SNV Germline	Chr17:7673558	Conflicting classifications of pathogenicity	Condition: not provided Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA16620612	rs_1064794810	6 SubmittersRCV000478385 RCV000555965 RCV000573045 RCV002289633
NM_000546.6(TP53):c.884C>T (p.Pro295Leu)	SNV Germline	Chr17:7673736	Conflicting classifications of pathogenicity	Condition: not provided Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA001416	rs_751713111	5 SubmittersRCV000486525 RCV000633374 RCV000774786
NM_000546.6(TP53):c.861G>C (p.Glu287Asp)	SNV Germline/somatic	Chr17:7673759	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Li-Fraumeni syndrome 1 Neoplasm Hereditary breast ovarian cancer syndrome	Criteria Provided Conflicting Classifications	CA001463	rs_748891343	9 SubmittersRCV000481706 RCV000568299 RCV001214612 RCV002289642 RCV004668997 RCV004760528
NM_000546.6(TP53):c.853G>A (p.Glu285Lys)	SNV Germline/somatic	Chr17:7673767	Pathogenic/Likely pathogenic	Condition: not provided Hereditary cancer-predisposing syndrome Poly (ADP-Ribose) polymerase inhibitor response Li-Fraumeni syndrome 1 Li-Fraumeni syndrome Neoplasm	Criteria Provided Multiple Submitters No Conflicts	CA16620615	rs_112431538	7 SubmittersRCV000479542 RCV000492206 RCV000626449 RCV002289628 RCV000633365 RCV004668993
NM_000546.6(TP53):c.836G>A (p.Gly279Glu)	SNV Germline/somatic	Chr17:7673784	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome not specified Squamous cell carcinoma of the head and neck Ovarian neoplasm Li-Fraumeni syndrome 1 Li-Fraumeni syndrome	Criteria Provided Conflicting Classifications	CA16620616	rs_1064793881	9 SubmittersRCV000484876 RCV000492354 RCV000584418 RCV000989709 RCV000785274 RCV002289625 RCV002526543
NM_000546.6(TP53):c.829T>C (p.Cys277Arg)	SNV Germline	Chr17:7673791	Conflicting classifications of pathogenicity	Condition: not provided Li-Fraumeni syndrome Familial cancer of breast Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA16620617	rs_1064795369	4 SubmittersRCV000480494 RCV000819627 RCV002248705 RCV002431408
NM_000546.6(TP53):c.749C>T (p.Pro250Leu)	SNV Germline/somatic	Chr17:7674214	Pathogenic/Likely pathogenic	Condition: not provided Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Neoplasm	Criteria Provided Multiple Submitters No Conflicts	CA16620620	rs_1064794311	5 SubmittersRCV000479937 RCV000547538 RCV001026502 RCV004668994
NM_000546.6(TP53):c.686G>A (p.Cys229Tyr)	SNV Germline	Chr17:7674277	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Li-Fraumeni syndrome 1 Adrenocortical carcinoma, hereditary	Criteria Provided Conflicting Classifications	CA16620622	rs_1064793603	8 SubmittersRCV000482575 RCV000775944 RCV001215783 RCV002289624 RCV004568157
NM_000546.6(TP53):c.685T>C (p.Cys229Arg)	SNV Germline	Chr17:7674278	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome	Criteria Provided Conflicting Classifications	CA16620623	rs_1064794312	4 SubmittersRCV000482930 RCV000492777 RCV000633388
NM_000546.6(TP53):c.569C>T (p.Pro190Leu)	SNV Germline	Chr17:7674962	Likely pathogenic	Condition: not provided Li-Fraumeni syndrome Li-Fraumeni syndrome 1 Hereditary cancer-predisposing syndrome	Reviewed By Expert Panel	CA16620625	rs_876660825	5 SubmittersRCV000484792 RCV000551566 RCV001527084 RCV002350050
NM_000546.6(TP53):c.482C>A (p.Ala161Asp)	SNV Germline	Chr17:7675130	Conflicting classifications of pathogenicity	Condition: not provided Li-Fraumeni syndrome Li-Fraumeni syndrome 1 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA16620630	rs_1064795691	4 SubmittersRCV000481512 RCV000552464 RCV004023170 RCV004686588
NM_000546.6(TP53):c.457C>T (p.Pro153Ser)	SNV Germline	Chr17:7675155	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Li-Fraumeni syndrome 1 TP53-related disorder	Criteria Provided Conflicting Classifications	CA16620631	rs_1064795860	7 SubmittersRCV000481578 RCV000561574 RCV000795252 RCV002289645 RCV004745422
NM_000546.6(TP53):c.399G>A (p.Met133Ile)	SNV Germline	Chr17:7675213	Conflicting classifications of pathogenicity	Condition: not provided Li-Fraumeni syndrome 1 Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Adrenocortical carcinoma, hereditary	Criteria Provided Conflicting Classifications	CA16620633	rs_1064795139	8 SubmittersRCV000484833 RCV000662907 RCV001052030 RCV002289639 RCV004568185
NM_000546.6(TP53):c.159G>A (p.Trp53Ter)	SNV Germline	Chr17:7676210	Pathogenic	Condition: not provided Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Li-Fraumeni syndrome 1 Adrenocortical carcinoma, hereditary	Criteria Provided Multiple Submitters No Conflicts	CA16620640	rs_1064794618	7 SubmittersRCV000480240 RCV001012297 RCV001236368 RCV002289632 RCV003464011
NM_000546.6(TP53):c.31G>A (p.Glu11Lys)	SNV Germline	Chr17:7676564	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Li-Fraumeni syndrome 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA003910	rs_201382018	7 SubmittersRCV000563270 RCV000548671 RCV000663228 RCV001704594
NM_007194.4(CHEK2):c.1482G>C (p.Lys494Asn)	SNV Germline	Chr22:28689195	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome Familial cancer of breast Li-Fraumeni syndrome 1 not specified	Criteria Provided Conflicting Classifications	CA16621043	rs_767043399	8 SubmittersRCV000485124 RCV000562793 RCV000556152 RCV001174504 RCV004689756
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 Malignant tumor of prostate Li-Fraumeni syndrome 2 Bone osteosarcoma Familial cancer of breast	Criteria Provided Multiple Submitters No Conflicts	CA16621080	rs_560596101	10 SubmittersRCV000483398 RCV000543761 RCV000562639 RCV000763474
NM_000546.6(TP53):c.1000G>T (p.Gly334Trp)	SNV Germline	Chr17:7670709	Likely pathogenic	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA397832878	rs_730882028	3 SubmittersRCV000492343 RCV002289665
NM_000546.6(TP53):c.993G>A (p.Gln331=)	SNV Germline/somatic	Chr17:7673535	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Condition: not provided Li-Fraumeni syndrome Li-Fraumeni syndrome 1 Neoplasm TP53-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA10590137	rs_11575996	8 SubmittersRCV000492456 RCV000521745 RCV000685844 RCV002289663 RCV004669006 RCV004797613
NM_000546.6(TP53):c.919+2T>G	SNV Germline/somatic	Chr17:7673699	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Condition: not provided Li-Fraumeni syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA397836235	rs_1131691016	5 SubmittersRCV000492618 RCV000808655 RCV001542803 RCV002289666
NM_000546.6(TP53):c.919+1G>C	SNV Germline/somatic	Chr17:7673700	Likely pathogenic	Hereditary cancer-predisposing syndrome Condition: not provided Ovarian neoplasm Li-Fraumeni syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA397836244	rs_1131691039	4 SubmittersRCV000492089 RCV000786818 RCV000785296 RCV004023283
NM_000546.6(TP53):c.826G>C (p.Ala276Pro)	SNV Germline/somatic	Chr17:7673794	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Ovarian neoplasm Adrenocortical carcinoma, hereditary	Criteria Provided Conflicting Classifications	CA397836931	rs_1131691029	4 SubmittersRCV000492584 RCV000705570 RCV000785453 RCV004568619
NM_000546.6(TP53):c.800G>C (p.Arg267Pro)	SNV Germline/somatic	Chr17:7673820	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Acute myeloid leukemia	Criteria Provided Conflicting Classifications	CA397837115	rs_587780075	3 SubmittersRCV000492273 RCV000691629 RCV003326137
NM_000546.6(TP53):c.737T>C (p.Met246Thr)	SNV Germline/somatic	Chr17:7674226	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Ovarian neoplasm Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA397838998	rs_587780074	4 SubmittersRCV000492075 RCV000704600 RCV000785245 RCV002289671
NM_000546.6(TP53):c.643A>C (p.Ser215Arg)	SNV Germline	Chr17:7674888	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA397840019	rs_886039484	3 SubmittersRCV000492567 RCV002523445 RCV004023282
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	Criteria Provided Multiple Submitters No Conflicts	CA397841068	rs_1131691042	9 SubmittersRCV000492159 RCV000763418 RCV000786834 RCV001210960 RCV002289678 RCV003476180
NM_000546.6(TP53):c.514G>T (p.Val172Phe)	SNV Germline	Chr17:7675098	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA397841576	rs_1131691043	3 SubmittersRCV000492688 RCV002527066 RCV004023284
NM_000546.6(TP53):c.503A>G (p.His168Arg)	SNV Germline	Chr17:7675109	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA287488569	rs_867114783	3 SubmittersRCV000492442 RCV000702915 RCV004023278
NM_000546.6(TP53):c.470T>C (p.Val157Ala)	SNV Germline	Chr17:7675142	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Adrenal cortex carcinoma Condition: not provided Li-Fraumeni syndrome 1 Li-Fraumeni syndrome	Criteria Provided Conflicting Classifications	CA397842041	rs_1131691023	5 SubmittersRCV000492393 RCV000505579 RCV002274041 RCV002289672 RCV003509552
NM_000546.6(TP53):c.442G>T (p.Asp148Tyr)	SNV Germline	Chr17:7675170	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA397842304	rs_1131691007	5 SubmittersRCV000492685 RCV000799619 RCV002289662
NM_000546.6(TP53):c.438G>A (p.Trp146Ter)	SNV Germline/somatic	Chr17:7675174	Pathogenic	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Ovarian neoplasm Li-Fraumeni syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA397842363	rs_1131691026	5 SubmittersRCV000492181 RCV000633358 RCV001527473 RCV002289674
NM_000546.6(TP53):c.392A>T (p.Asn131Ile)	SNV Germline	Chr17:7675220	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Li-Fraumeni syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA397842926	rs_1131691037	4 SubmittersRCV000492742 RCV000821569 RCV002289677
NM_000546.6(TP53):c.313G>A (p.Gly105Ser)	SNV Germline/somatic	Chr17:7676056	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Li-Fraumeni syndrome 1 Adrenal cortex carcinoma	Criteria Provided Multiple Submitters No Conflicts	CA397844735	rs_1060501195	4 SubmittersRCV000492331 RCV001379190 RCV002289669 RCV004003474
NM_000546.6(TP53):c.96+1G>C	SNV Germline	Chr17:7676381	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Li-Fraumeni syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA397848258	rs_1131691003	4 SubmittersRCV000492543 RCV002523444 RCV003485592
NM_000546.6(TP53):c.75-2A>G	SNV Germline/somatic	Chr17:7676405	Likely pathogenic	Hereditary cancer-predisposing syndrome Condition: not provided Li-Fraumeni syndrome Li-Fraumeni syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA397848502	rs_1131691020	4 SubmittersRCV000492315 RCV001543700 RCV001851347 RCV002289668
NM_000546.6(TP53):c.1015G>T (p.Glu339Ter)	SNV Germline	Chr17:7670694	Pathogenic	Li-Fraumeni syndrome 1 Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome TP53-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA397832685	rs_17882252	4 SubmittersRCV000505616 RCV000689964 RCV002341191 RCV003409717
NM_000546.6(TP53):c.752T>C (p.Ile251Thr)	SNV Germline	Chr17:7674211	Conflicting classifications of pathogenicity	not specified Li-Fraumeni syndrome Condition: not provided Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA397838899	rs_730882027	4 SubmittersRCV000506798 RCV001379962 RCV001755753 RCV002395222
NM_000546.6(TP53):c.617T>C (p.Leu206Ser)	SNV Germline	Chr17:7674914	Conflicting classifications of pathogenicity	not specified Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome	Criteria Provided Conflicting Classifications	CA397840264	rs_1555525804	3 SubmittersRCV000507226 RCV000566251 RCV001049540
NM_000546.6(TP53):c.375+2T>C	SNV Germline	Chr17:7675992	Pathogenic/Likely pathogenic	Condition: not provided Hereditary breast ovarian cancer syndrome Li-Fraumeni syndrome Li-Fraumeni syndrome 1 Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA397844132	rs_1555526469	5 SubmittersRCV000505908 RCV000586625 RCV000692558 RCV002289693 RCV002289694
NM_007194.4(CHEK2):c.417C>A (p.Tyr139Ter)	SNV Germline	Chr22:28725270	Pathogenic	Condition: not provided Hereditary cancer-predisposing syndrome Familial cancer of breast Familial cancer of breast Bone osteosarcoma Li-Fraumeni syndrome 2 Malignant tumor of prostate Hereditary breast ovarian cancer syndrome Breast and/or ovarian cancer Familial prostate cancer Bone osteosarcoma Li-Fraumeni syndrome 2	Criteria Provided Multiple Submitters No Conflicts	CA411107953	rs_200917541	10 SubmittersRCV000507030 RCV000572280 RCV000541871 RCV000763476 RCV001375597 RCV003150248 RCV004796214
NM_000546.6(TP53):c.478A>G (p.Met160Val)	SNV Germline	Chr17:7675134	Conflicting classifications of pathogenicity	Condition: not provided Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Adrenocortical carcinoma, hereditary	Criteria Provided Conflicting Classifications	CA397841976	rs_377274728	5 SubmittersRCV000513585 RCV001051011 RCV000570720 RCV004568658
NM_000546.6(TP53):c.949C>T (p.Gln317Ter)	SNV Germline/somatic	Chr17:7673579	Pathogenic/Likely pathogenic	Condition: not provided Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Li-Fraumeni syndrome 1 Neoplasm	Criteria Provided Multiple Submitters No Conflicts	CA397835973	rs_764735889	7 SubmittersRCV000520579 RCV000583201 RCV000615397 RCV002289710 RCV004669021
NM_000546.6(TP53):c.724T>C (p.Cys242Arg)	SNV Germline	Chr17:7674239	Conflicting classifications of pathogenicity	Condition: not provided Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA397839073	rs_1057519982	5 SubmittersRCV000523905 RCV001857954 RCV002376961 RCV004023543
NM_007194.4(CHEK2):c.232C>T (p.Gln78Ter)	SNV Germline	Chr22:28734490	Pathogenic/Likely pathogenic	Condition: not provided Hereditary cancer-predisposing syndrome Familial cancer of breast Li-Fraumeni syndrome 2	Criteria Provided Multiple Submitters No Conflicts	CA411090665	rs_1555932341	6 SubmittersRCV000522849 RCV001015209 RCV000576726 RCV004577527
NM_000546.6(TP53):c.1165G>A (p.Gly389Arg)	SNV Germline	Chr17:7669626	Conflicting classifications of pathogenicity	Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA397830162	rs_587783064	3 SubmittersRCV000558251 RCV002330841
NM_000546.6(TP53):c.925C>T (p.Pro309Ser)	SNV Germline	Chr17:7673603	Conflicting classifications of pathogenicity	Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA397836140	rs_1555525012	6 SubmittersRCV000537437 RCV000574214 RCV002289745
NM_000546.6(TP53):c.850A>T (p.Thr284Ser)	SNV Germline	Chr17:7673770	Conflicting classifications of pathogenicity	Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA397836761	rs_1204379654	5 SubmittersRCV000546011 RCV000563243 RCV001544620
NM_000546.6(TP53):c.783-1G>A	SNV Germline/somatic	Chr17:7673838	Pathogenic/Likely pathogenic	Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Condition: not provided Li-Fraumeni syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA397837303	rs_1555525367	6 SubmittersRCV000539601 RCV000565712 RCV001533211 RCV002289743
NM_000546.6(TP53):c.770T>C (p.Leu257Pro)	SNV Germline	Chr17:7674193	Conflicting classifications of pathogenicity	Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA397837703	rs_28934577	3 SubmittersRCV000540536 RCV003159760 RCV004023790
NM_000546.6(TP53):c.731G>C (p.Gly244Ala)	SNV Germline/somatic	Chr17:7674232	Pathogenic/Likely pathogenic	Li-Fraumeni syndrome Lip and oral cavity carcinoma Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA287488006	rs_985033810	4 SubmittersRCV000548437 RCV001255675 RCV002384069 RCV004023789
NM_000546.6(TP53):c.476C>T (p.Ala159Val)	SNV Germline/somatic	Chr17:7675136	Pathogenic/Likely pathogenic	Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Neoplasm Condition: not provided Adrenocortical carcinoma, hereditary Li-Fraumeni syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA397842017	rs_1555526131	6 SubmittersRCV000527533 RCV002341276 RCV004669032 RCV001764539 RCV003476227 RCV004023788
NM_000546.6(TP53):c.377A>G (p.Tyr126Cys)	SNV Germline/somatic	Chr17:7675235	Conflicting classifications of pathogenicity	Li-Fraumeni syndrome Ovarian neoplasm Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA397843956	rs_1555526335	6 SubmittersRCV000547041 RCV000785493 RCV001021115 RCV002289730
NM_000546.6(TP53):c.341T>C (p.Leu114Ser)	SNV Germline	Chr17:7676028	Conflicting classifications of pathogenicity	Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome not specified Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA002835	rs_781724995	5 SubmittersRCV000537102 RCV001177908 RCV001821513 RCV002289729
NM_000546.6(TP53):c.229C>A (p.Pro77Thr)	SNV Germline	Chr17:7676140	Conflicting classifications of pathogenicity	Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA003025	rs_753085009	4 SubmittersRCV000546598 RCV000563835 RCV002289723
NM_000546.6(TP53):c.1085G>A (p.Ser362Asn)	SNV Germline	Chr17:7670624	Conflicting classifications of pathogenicity	Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA397831856	rs_768803947	3 SubmittersRCV000530397 RCV002431550
NM_000546.6(TP53):c.677G>T (p.Gly226Val)	SNV Germline	Chr17:7674286	Conflicting classifications of pathogenicity	Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Condition: not provided Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA287488077	rs_970212462	5 SubmittersRCV000542075 RCV000572327 RCV001591203 RCV002289739
NM_000546.6(TP53):c.673-2A>G	SNV Germline/somatic	Chr17:7674292	Pathogenic/Likely pathogenic	Li-Fraumeni syndrome Condition: not provided Ovarian neoplasm Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA397839547	rs_1555525585	7 SubmittersRCV000553068 RCV000786824 RCV000785307 RCV002289738 RCV002289737
NM_000546.6(TP53):c.530C>G (p.Pro177Arg)	SNV Germline	Chr17:7675082	Pathogenic/Likely pathogenic	Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Condition: not provided Li-Fraumeni syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA002428	rs_751477326	6 SubmittersRCV000540639 RCV000565979 RCV000582953 RCV002289734
NM_000546.6(TP53):c.463A>G (p.Thr155Ala)	SNV Germline	Chr17:7675149	Conflicting classifications of pathogenicity	Li-Fraumeni syndrome Condition: not provided Li-Fraumeni syndrome 1 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA002539	rs_772683278	4 SubmittersRCV000534841 RCV001563388 RCV002289732 RCV002289733
NM_000546.6(TP53):c.372C>A (p.Cys124Ter)	SNV Germline	Chr17:7675997	Pathogenic	Li-Fraumeni syndrome Li-Fraumeni syndrome 1	Reviewed By Expert Panel	CA397844214	rs_1555526478	3 SubmittersRCV000541004 RCV004023787
NM_000546.6(TP53):c.1060C>T (p.Gln354Ter)	SNV Germline	Chr17:7670649	Likely pathogenic	Li-Fraumeni syndrome	Criteria Provided Single Submitter	CA397832178	rs_755394212	1 SubmittersRCV000531178
NM_000546.6(TP53):c.835G>A (p.Gly279Arg)	SNV Germline	Chr17:7673785	Conflicting classifications of pathogenicity	Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1 Adrenocortical carcinoma, hereditary	Criteria Provided Conflicting Classifications	CA397836877	rs_1555525248	4 SubmittersRCV000547189 RCV000566142 RCV002267618 RCV003459203
NM_000546.6(TP53):c.516T>G (p.Val172=)	SNV Germline	Chr17:7675096	Conflicting classifications of pathogenicity	Li-Fraumeni syndrome Condition: not provided Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA002450	rs_749309577	4 SubmittersRCV000556128 RCV000578979 RCV001023655
NM_000546.6(TP53):c.289G>T (p.Val97Phe)	SNV Germline	Chr17:7676080	Conflicting classifications of pathogenicity	Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA397844977	rs_730882023	4 SubmittersRCV000545045 RCV001526005 RCV002289725
NM_000546.6(TP53):c.26G>A (p.Ser9Asn)	SNV Germline	Chr17:7676569	Conflicting classifications of pathogenicity	Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA397849248	rs_1555527015	2 SubmittersRCV000534258 RCV004787847
NM_000546.6(TP53):c.1084A>T (p.Ser362Cys)	SNV Germline	Chr17:7670625	Conflicting classifications of pathogenicity	Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA397831862	rs_1287887419	2 SubmittersRCV000552096 RCV004787846
NM_000546.6(TP53):c.993+7A>G	SNV Germline	Chr17:7673528	Conflicting classifications of pathogenicity	Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome not specified	Criteria Provided Conflicting Classifications	CA287486495	rs_1023206153	3 SubmittersRCV000555186 RCV000581959 RCV004767338
NM_000546.6(TP53):c.917G>A (p.Arg306Gln)	SNV Germline	Chr17:7673703	Conflicting classifications of pathogenicity	Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Familial cancer of breast Squamous cell carcinoma of the head and neck Condition: not provided not specified Adrenocortical carcinoma, hereditary	Criteria Provided Conflicting Classifications	CA287486566	rs_1048095040	10 SubmittersRCV000527123 RCV000561902 RCV000664300 RCV000989706 RCV000986056 RCV003330753 RCV004568752
NM_000546.6(TP53):c.830G>T (p.Cys277Phe)	SNV Germline	Chr17:7673790	Conflicting classifications of pathogenicity	Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome TP53-related disorder Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA001518	rs_763098116	6 SubmittersRCV000532028 RCV002431551 RCV003409773 RCV004023791
NM_000546.6(TP53):c.796G>A (p.Gly266Arg)	SNV Germline/somatic	Chr17:7673824	Pathogenic	Li-Fraumeni syndrome Ovarian neoplasm Li-Fraumeni syndrome 1 Condition: not provided Hereditary cancer-predisposing syndrome Neoplasm Adrenocortical carcinoma, hereditary	Criteria Provided Multiple Submitters No Conflicts	CA397837142	rs_1057519990	7 SubmittersRCV000528667 RCV000785497 RCV002289744 RCV004772959 RCV001027016 RCV004669033 RCV004568751
NM_000546.6(TP53):c.388C>G (p.Leu130Val)	SNV Germline	Chr17:7675224	Conflicting classifications of pathogenicity	Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Condition: not provided Li-Fraumeni syndrome 1 Adrenocortical carcinoma, hereditary	Criteria Provided Conflicting Classifications	CA287488714	rs_863224683	5 SubmittersRCV000536061 RCV000565366 RCV000759374 RCV002289731 RCV003459202
NM_000546.6(TP53):c.376-2A>T	SNV Germline/somatic	Chr17:7675238	Pathogenic/Likely pathogenic	Li-Fraumeni syndrome Ovarian neoplasm Condition: not provided Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA397843977	rs_786202799	4 SubmittersRCV000532456 RCV000785465 RCV000786837 RCV002350198
NM_000546.6(TP53):c.1054G>T (p.Asp352Tyr)	SNV Germline	Chr17:7670655	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA397832246	rs_1555524394	3 SubmittersRCV000574074 RCV001043167 RCV002289807
NM_000546.6(TP53):c.1160C>G (p.Thr387Arg)	SNV Germline	Chr17:7669631	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome	Criteria Provided Conflicting Classifications	CA287485465	rs_927888647	3 SubmittersRCV000569933 RCV001035792
NM_000546.6(TP53):c.848G>C (p.Arg283Pro)	SNV Germline	Chr17:7673772	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome not specified Li-Fraumeni syndrome 1 Li-Fraumeni syndrome	Criteria Provided Conflicting Classifications	CA397836790	rs_371409680	5 SubmittersRCV000565161 RCV001731795 RCV002289837 RCV003767232
NM_000546.6(TP53):c.737T>A (p.Met246Lys)	SNV Germline	Chr17:7674226	Likely pathogenic	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Li-Fraumeni syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA397839001	rs_587780074	3 SubmittersRCV000574219 RCV000797952 RCV002289798
NM_000546.6(TP53):c.1104C>G (p.His368Gln)	SNV Germline	Chr17:7669687	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Li-Fraumeni syndrome 1 Adrenocortical carcinoma, hereditary	Criteria Provided Conflicting Classifications	CA397830872	rs_1289241865	4 SubmittersRCV000575539 RCV000798387 RCV002289832 RCV004569245
NM_000546.6(TP53):c.533A>C (p.His178Pro)	SNV Germline	Chr17:7675079	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Adrenocortical carcinoma, hereditary	Criteria Provided Conflicting Classifications	CA397841366	rs_1555526004	4 SubmittersRCV000562255 RCV001216080 RCV003476347

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

SNV
Germline

Chr22:28725099

Conflicting classifications of pathogenicity; risk factor

Li-Fraumeni syndrome 2
Hereditary cancer-predisposing syndrome
not specified
Familial cancer of breast
Breast and colorectal cancer, susceptibility to
Condition: not provided
Adrenal cortex carcinoma
Gastrointestinal carcinoma
Malignant tumor of breast
Breast and/or ovarian cancer
Malignant tumor of prostate
Li-Fraumeni syndrome 2
Familial cancer of breast
Bone osteosarcoma
Predisposition to cancer
Malignant tumor of prostate
Li-Fraumeni syndrome 2
Familial cancer of breast
Bone osteosarcoma
Colorectal cancer
TUMOR PREDISPOSITION SYNDROME 4, BREAST/PROSTATE/COLORECTAL
Malignant tumor of prostate
CHEK2-related disorder
CHEK2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA117630

rs_17879961

41 SubmittersRCV000005936 RCV000116018 RCV000120555 RCV000144596 RCV000210131 RCV000212410 RCV000626718 RCV001358111 RCV001797993 RCV002054420 RCV002254675 RCV003224091 RCV003333685 RCV003447470 RCV004528085 RCV004556709

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

SNV
Germline

Chr22:28725254

Likely pathogenic

Li-Fraumeni syndrome 2
Hereditary cancer-predisposing syndrome
not specified
Familial cancer of breast
Condition: not provided
Li-Fraumeni syndrome
Malignant tumor of breast
Gastric cancer
Li-Fraumeni syndrome 1
Breast and/or ovarian cancer
CHEK2-related cancer predisposition

Criteria Provided
Multiple Submitters
No Conflicts

CA117632

rs_137853007

29 SubmittersRCV000005940 RCV000116016 RCV000120554 RCV000197612 RCV000505730 RCV000587420 RCV001358124 RCV003162212 RCV003224854 RCV003149565 RCV004556710

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
Malignant tumor of prostate
Li-Fraumeni syndrome 2
Familial cancer of breast
Bone osteosarcoma
Hereditary breast ovarian cancer syndrome
not specified
Li-Fraumeni syndrome 2
Malignant tumor of breast
Breast and/or ovarian cancer
Malignant tumor of prostate
CHEK2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA117641

rs_121908701

20 SubmittersRCV000129670 RCV000114761 RCV000233960 RCV000765623 RCV001030688 RCV001193685 RCV001294022 RCV001357854 RCV001797995 RCV003333687 RCV004556711

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
Malignant tumor of prostate
Li-Fraumeni syndrome 2
Familial cancer of breast
Bone osteosarcoma
Colorectal cancer
Malignant tumor of prostate
CHEK2-related disorder
Li-Fraumeni syndrome 2

Criteria Provided
Conflicting Classifications

CA117644

rs_121908702

20 SubmittersRCV000114762 RCV000131201 RCV000205850 RCV001818140 RCV001789748 RCV002476934 RCV003333689 RCV004532294 RCV004760322

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

SNV
Germline

Chr22:28695219

Conflicting classifications of pathogenicity

Breast cancer, susceptibility to
Breast and colorectal cancer, susceptibility to
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Breast neoplasm
Malignant tumor of prostate
Li-Fraumeni syndrome 2
Bone osteosarcoma
Familial cancer of breast
Hereditary breast ovarian cancer syndrome
Malignant tumor of breast
CHEK2-related cancer risk
TUMOR PREDISPOSITION SYNDROME 4, BREAST
Breast and/or ovarian cancer
CHEK2-related disorder
CHEK2-related cancer predisposition
Inherited breast cancer and ovarian cancer

Criteria Provided
Conflicting Classifications

CA250528

rs_137853011

35 SubmittersRCV000005953 RCV000210180 RCV000115994 RCV000212459 RCV000197718 RCV000388223 RCV000515286 RCV000586482 RCV001354412 RCV001449813 RCV003333691 RCV003492287 RCV004532295 RCV004556712 RCV004691717

NM_000546.6(TP53):c.742C>T (p.Arg248Trp)

SNV
Germline/somatic

Chr17:7674221

Pathogenic

Li-Fraumeni syndrome 1
Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Neoplasm
7 conditions
Ovarian neoplasm
Choroid plexus carcinoma
Lip and oral cavity carcinoma
Gallbladder cancer
Malignant lymphoma, large B-cell, diffuse
Congenital fibrosarcoma
Adrenocortical carcinoma, hereditary
Gastric cancer
Breast and/or ovarian cancer
TP53-related disorder

Reviewed By Expert Panel

CA000382

rs_121912651

33 SubmittersRCV000013140 RCV000168242 RCV000115735 RCV000213057 RCV000438698 RCV000735293 RCV000785485 RCV001271100 RCV001255674 RCV001374442 RCV003318332 RCV003105772 RCV003460463 RCV003162243 RCV003149569 RCV004745154

NM_000546.6(TP53):c.772G>A (p.Glu258Lys)

SNV
Germline/somatic

Chr17:7674191

Pathogenic/Likely pathogenic

Li-Fraumeni syndrome 1
Condition: not provided
not specified
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Ovarian neoplasm

Criteria Provided
Multiple Submitters
No Conflicts

CA000406

rs_121912652

9 SubmittersRCV000013141 RCV000161071 RCV000582699 RCV000772122 RCV000792895 RCV000785291

NM_000546.6(TP53):c.733G>T (p.Gly245Cys)

SNV
Germline/somatic

Chr17:7674230

Pathogenic

Li-Fraumeni syndrome 1
Condition: not provided
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Breast and/or ovarian cancer
Neoplasm

Criteria Provided
Multiple Submitters
No Conflicts

CA000369

rs_28934575

8 SubmittersRCV000013142 RCV000161025 RCV000492412 RCV000633397 RCV001271056 RCV004668714

NM_000546.6(TP53):c.755T>C (p.Leu252Pro)

SNV
Germline

Chr17:7674208

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome 1
Li-Fraumeni syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA000398

rs_121912653

3 SubmittersRCV000013143 RCV001213570 RCV003237412

NM_000546.6(TP53):c.747G>T (p.Arg249Ser)

SNV
Germline/somatic

Chr17:7674216

Pathogenic/Likely pathogenic

Hepatocellular carcinoma
Cervical cancer
Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Ovarian neoplasm
Squamous cell carcinoma of the head and neck
Condition: not provided
Li-Fraumeni syndrome 1
Adrenal cortex carcinoma

Criteria Provided
Multiple Submitters
No Conflicts

CA000392

rs_28934571

11 SubmittersRCV000013145 RCV000013146 RCV000464372 RCV000579519 RCV000785491 RCV001270276 RCV001562247 RCV004018617 RCV003996089

NM_000546.6(TP53):c.469G>T (p.Val157Phe)

SNV
Germline/somatic

Chr17:7675143

Conflicting classifications of pathogenicity

Hepatocellular carcinoma
Hereditary cancer-predisposing syndrome
Ovarian neoplasm
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1
Neoplasm
Squamous cell carcinoma

Criteria Provided
Conflicting Classifications

CA000222

rs_121912654

9 SubmittersRCV000013147 RCV000566103 RCV000785500 RCV000794324 RCV001823095 RCV004668716 RCV003128570

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
Li-Fraumeni syndrome 1
Condition: not provided
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA000361

rs_121912655

11 SubmittersRCV000013148 RCV000129809 RCV000231770 RCV000785282 RCV002288484 RCV003314552 RCV002247332

NM_000546.6(TP53):c.734G>A (p.Gly245Asp)

SNV
Germline/somatic

Chr17:7674229

Pathogenic/Likely pathogenic

Li-Fraumeni syndrome 1
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Ovarian neoplasm
Condition: not provided
Adrenocortical carcinoma, hereditary

Criteria Provided
Multiple Submitters
No Conflicts

CA000371

rs_121912656

9 SubmittersRCV000013149 RCV000164465 RCV000206683 RCV000785472 RCV000986053 RCV003473082

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

SNV
Germline/somatic

Chr17:7674220

Pathogenic

Li-Fraumeni syndrome 1
Hereditary cancer-predisposing syndrome
Sarcoma
Li-Fraumeni syndrome
Condition: not provided
Multiple myeloma
Neoplasm
11 conditions
Lymphoma
Ovarian neoplasm
Lip and oral cavity carcinoma
Rhabdomyosarcoma
Familial cancer of breast
Breast carcinoma
Ductal carcinoma in situ
Gastric cancer
Malignant tumor of urinary bladder
Adrenocortical carcinoma, hereditary
Adrenal cortex carcinoma
TP53-related disorder
Hereditary breast ovarian cancer syndrome
Colorectal cancer

Reviewed By Expert Panel

CA000387

rs_11540652

43 SubmittersRCV000013150 RCV000115736 RCV000148913 RCV000197114 RCV000235221 RCV000424869 RCV000426606 RCV000763417 RCV000790860 RCV000785344 RCV001255671 RCV001257519 RCV001270275 RCV001554245 RCV001527465 RCV003162244 RCV003332079 RCV003466852 RCV003996090 RCV004745155 RCV004794335 RCV004813032

NM_000546.6(TP53):c.398T>C (p.Met133Thr)

SNV
Germline

Chr17:7675214

Pathogenic

Li-Fraumeni syndrome 1
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA000158

rs_28934873

5 SubmittersRCV000013151 RCV000492130 RCV001383051 RCV004786255

NM_000546.6(TP53):c.814G>T (p.Val272Leu)

SNV
Germline

Chr17:7673806

Pathogenic/Likely pathogenic

Li-Fraumeni syndrome 1
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA000430

rs_121912657

5 SubmittersRCV000013152 RCV000164988 RCV001221969

NM_000546.6(TP53):c.722C>T (p.Ser241Phe)

SNV
Germline/somatic

Chr17:7674241

Pathogenic/Likely pathogenic

Bone osteosarcoma
Hepatoblastoma
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Ovarian neoplasm
Lip and oral cavity carcinoma
Li-Fraumeni syndrome 1
12 conditions
Neoplasm
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA000359

rs_28934573

11 SubmittersRCV000013154 RCV000013153 RCV000130168 RCV000559355 RCV000785290 RCV001255673 RCV002288485 RCV002496336 RCV004668717 RCV003114189

NM_000546.6(TP53):c.844C>T (p.Arg282Trp)

SNV
Germline/somatic

Chr17:7673776

Pathogenic/Likely pathogenic

Li-fraumeni-like syndrome
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1
Condition: not provided
Hereditary cancer-predisposing syndrome
Squamous cell carcinoma of the head and neck
Astrocytoma, anaplastic
Pleomorphic xanthoastrocytoma
Ovarian neoplasm
Colorectal cancer
Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype
Neoplasm
TP53-related disorder
Adrenocortical carcinoma, hereditary

Criteria Provided
Multiple Submitters
No Conflicts

CA000454

rs_28934574

34 SubmittersRCV000013161 RCV000148905 RCV000144670 RCV000236400 RCV000210145 RCV000441472 RCV000722016 RCV000785546 RCV001270278 RCV003315223 RCV004668718 RCV004797589 RCV004566738

NM_000546.6(TP53):c.733G>A (p.Gly245Ser)

SNV
Germline/somatic

Chr17:7674230

Pathogenic

Li-fraumeni-like syndrome
Adenocarcinoma
Condition: not provided
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1
Li-Fraumeni syndrome
Atypical teratoid rhabdoid tumor
Astrocytoma, anaplastic
Ovarian neoplasm
Colorectal cancer
Familial ovarian cancer
Breast carcinoma
12 conditions
Gastric cancer
Malignant tumor of urinary bladder
Adrenocortical carcinoma, hereditary
TP53-related disorder
See cases

Reviewed By Expert Panel

CA000367

rs_28934575

34 SubmittersRCV000013162 RCV000148909 RCV000154014 RCV000130147 RCV000144669 RCV000226657 RCV000587017 RCV000588736 RCV000785316 RCV001270274 RCV001354825 RCV001642222 RCV002496337 RCV003162245 RCV003332080 RCV003460464 RCV003914832 RCV004797759

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
Lung adenocarcinoma
Neoplasm
Li-Fraumeni syndrome
Ovarian neoplasm
Rhabdomyosarcoma
Malignant tumor of breast
Multiple myeloma
Colorectal cancer
Familial cancer of breast
12 conditions
Gastric cancer
Breast and/or ovarian cancer
Adrenocortical carcinoma, hereditary
TP53-related disorder

Reviewed By Expert Panel

CA000434

rs_28934576

36 SubmittersRCV000013163 RCV000013164 RCV000115738 RCV000254693 RCV000422097 RCV000431361 RCV000441169 RCV000463420 RCV000785345 RCV001257517 RCV001358389 RCV001527470 RCV001527484 RCV002476955 RCV003162246 RCV003492292 RCV003466853 RCV004797590

NM_000546.6(TP53):c.974G>T (p.Gly325Val)

SNV
Germline

Chr17:7673554

Conflicting classifications of pathogenicity

Non-Hodgkin lymphoma
Familial colorectal cancer
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA000516

rs_121912659

8 SubmittersRCV000013165 RCV000013166 RCV000131411 RCV000232570 RCV001508433

NM_000546.6(TP53):c.839G>C (p.Arg280Thr)

SNV
Germline/somatic

Chr17:7673781

Pathogenic/Likely pathogenic

Nasopharyngeal carcinoma
Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Malignant tumor of urinary bladder
Acute myeloid leukemia
Li-Fraumeni syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA000445

rs_121912660

6 SubmittersRCV000013167 RCV000198779 RCV002433452 RCV003332081 RCV000423074 RCV004018618

NM_000546.6(TP53):c.451C>A (p.Pro151Thr)

SNV
Germline/somatic

Chr17:7675161

Pathogenic/Likely pathogenic

Breast adenocarcinoma
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Condition: not provided
Rhabdomyosarcoma
Li-Fraumeni syndrome 1
Adrenocortical carcinoma, hereditary

Criteria Provided
Multiple Submitters
No Conflicts

CA000198

rs_28934874

8 SubmittersRCV000013168 RCV000130617 RCV000691152 RCV000520731 RCV001257524 RCV002288486 RCV004566739

NM_000546.6(TP53):c.451C>T (p.Pro151Ser)

SNV
Germline/somatic

Chr17:7675161

Pathogenic/Likely pathogenic

Breast adenocarcinoma
Condition: not provided
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Ovarian neoplasm
Rhabdomyosarcoma
Li-Fraumeni syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA000200

rs_28934874

8 SubmittersRCV000013169 RCV000079203 RCV000219702 RCV000633355 RCV000785532 RCV001257523 RCV002288487

NM_000546.6(TP53):c.770T>A (p.Leu257Gln)

SNV
Germline/somatic

Chr17:7674193

Conflicting classifications of pathogenicity

Li-fraumeni-like syndrome
Li-Fraumeni syndrome
Ovarian neoplasm
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA000402

rs_28934577

4 SubmittersRCV000013171 RCV000469142 RCV000785553 RCV002399320

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

SNV
Germline/somatic

Chr17:7675088

Pathogenic

Li-Fraumeni syndrome 1
Hereditary cancer-predisposing syndrome
Malignant tumor of esophagus
Condition: not provided
Li-Fraumeni syndrome
Neoplasm
Ovarian neoplasm
Lip and oral cavity carcinoma
Squamous cell carcinoma of the head and neck
Familial cancer of breast
Colorectal cancer
12 conditions
Adrenocortical carcinoma, hereditary
Gastric cancer
TP53-related disorder

Reviewed By Expert Panel

CA000251

rs_28934578

31 SubmittersRCV000013173 RCV000131301 RCV000239398 RCV000213054 RCV000204931 RCV000421746 RCV000785352 RCV001255668 RCV001270268 RCV001527463 RCV001270269 RCV002476956 RCV003466854 RCV003162247 RCV004797760

NM_000546.6(TP53):c.1031T>C (p.Leu344Pro)

SNV
Germline/somatic

Chr17:7670678

Likely pathogenic

Li-Fraumeni syndrome 1
Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Adrenal cortex carcinoma
Adrenocortical carcinoma, hereditary

Reviewed By Expert Panel

CA000021

rs_121912662

6 SubmittersRCV000013174 RCV000991141 RCV002390102 RCV003996091 RCV003473083

NM_000546.6(TP53):c.412G>C (p.Ala138Pro)

SNV
Germline

Chr17:7675200

Pathogenic/Likely pathogenic

Li-Fraumeni syndrome 1
Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA000166

rs_28934875

4 SubmittersRCV000013175 RCV000461233 RCV002326677 RCV004719641

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

SNV
Germline

Chr17:7670699

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA000013

rs_121912664

24 SubmittersRCV000013178 RCV000128923 RCV000197240 RCV000413754 RCV000576817 RCV000481814 RCV000989700 RCV002307364 RCV001375632 RCV002496338 RCV003162248 RCV004797591

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

SNV
Germline

Chr17:7674965

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA000270

rs_121912665

12 SubmittersRCV000013182 RCV000144671 RCV000132058 RCV000536677 RCV001030736 RCV001192620 RCV003476892

NM_000546.6(TP53):c.659A>C (p.Tyr220Ser)

SNV
Germline/somatic

Chr17:7674872

Pathogenic

Li-Fraumeni syndrome 1
Li-Fraumeni syndrome
Ovarian neoplasm
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA000314

rs_121912666

6 SubmittersRCV000013183 RCV000472593 RCV000785481 RCV003162249 RCV004719642

NM_000546.6(TP53):c.854A>T (p.Glu285Val)

SNV
Germline

Chr17:7673766

Pathogenic

ADRENOCORTICAL CARCINOMA, PEDIATRIC
Choroid plexus carcinoma
Li-Fraumeni syndrome

Criteria Provided
Single Submitter

CA000463

rs_121912667

2 SubmittersRCV000013184 RCV000013185 RCV000813961

NM_000546.6(TP53):c.*1175A>C

SNV
Germline

Chr17:7668434

Conflicting classifications of pathogenicity

Basal cell carcinoma, susceptibility to, 7
Li-Fraumeni syndrome 1
Hereditary cancer-predisposing syndrome
Condition: not provided
TP53-related disorder

Criteria Provided
Conflicting Classifications

CA000049

rs_78378222

7 SubmittersRCV000029217 RCV000412103 RCV000492363 RCV002262575 RCV003914864

NM_000546.6(TP53):c.542G>T (p.Arg181Leu)

SNV
Germline

Chr17:7675070

Conflicting classifications of pathogenicity

Glioma susceptibility 1
Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA000262

rs_397514495

4 SubmittersRCV000032610 RCV000692266 RCV004786286

NM_000546.6(TP53):c.31G>C (p.Glu11Gln)

SNV
Germline

Chr17:7676564

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
not specified
Li-Fraumeni syndrome
Hereditary breast ovarian cancer syndrome
Li-Fraumeni syndrome 1
TP53-related disorder

Criteria Provided
Conflicting Classifications

CA000106

rs_201382018

15 SubmittersRCV000034640 RCV000161016 RCV000213044 RCV000226569 RCV001030742 RCV001124310 RCV003924896

NM_000546.6(TP53):c.1040C>A (p.Ala347Asp)

SNV
Germline

Chr17:7670669

Pathogenic

not specified
Condition: not provided
Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1

Reviewed By Expert Panel

CA000022

rs_397516434

7 SubmittersRCV000036529 RCV000255021 RCV000468537 RCV000492626 RCV003315555

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

SNV
Germline/somatic

Chr17:7674945

Pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
not specified
TP53-related disorder
Ovarian neoplasm
Li-Fraumeni syndrome 1
Adrenocortical carcinoma, hereditary

Criteria Provided
Multiple Submitters
No Conflicts

CA000282

rs_397516435

20 SubmittersRCV000412710 RCV000131510 RCV000205265 RCV001527464 RCV004797592 RCV000785329 RCV002288535 RCV003473274

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

Criteria Provided
Multiple Submitters
No Conflicts

CA000301

rs_397516436

15 SubmittersRCV000036532 RCV000115730 RCV000144672 RCV000213050 RCV000785330 RCV001270263 RCV001270264 RCV001270265 RCV004797593

NM_000546.6(TP53):c.817C>T (p.Arg273Cys)

SNV
Germline/somatic

Chr17:7673803

Pathogenic/Likely pathogenic

Li-Fraumeni syndrome 1
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Malignant tumor of prostate
Condition: not provided
Neoplasm
Ovarian neoplasm
Adrenocortical carcinoma, hereditary
Multiple myeloma
TP53-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA000432

rs_121913343

23 SubmittersRCV000144665 RCV000131966 RCV000205625 RCV000149051 RCV000254692 RCV000431786 RCV000785470 RCV003466889 RCV004595896 RCV004745172

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
Breast and/or ovarian cancer
Li-Fraumeni syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA000500

rs_397516439

10 SubmittersRCV000036537 RCV000132190 RCV000483617 RCV000785489 RCV001798102 RCV002288536

NM_000546.6(TP53):c.672G>A (p.Glu224=)

SNV
Germline

Chr17:7674859

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA000328

rs_267605076

5 SubmittersRCV000567974 RCV000786830 RCV000800846 RCV002288559

NM_000546.6(TP53):c.892G>T (p.Glu298Ter)

SNV
Germline/somatic

Chr17:7673728

Pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Ovarian neoplasm
Li-Fraumeni syndrome
Rhabdomyosarcoma
Li-Fraumeni syndrome 1
Neoplasm

Reviewed By Expert Panel

CA000484

rs_201744589

9 SubmittersRCV000079204 RCV000216964 RCV000785528 RCV000559898 RCV001257516 RCV004019532 RCV004668772

NM_000546.6(TP53):c.587G>T (p.Arg196Leu)

SNV
Germline/somatic

Chr17:7674944

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1
Li-Fraumeni syndrome

Criteria Provided
Conflicting Classifications

CA000284

rs_483352697

5 SubmittersRCV000087172 RCV001024636 RCV001523825 RCV002514536

NM_000546.6(TP53):c.736A>G (p.Met246Val)

SNV
Germline/somatic

Chr17:7674227

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Ovarian neoplasm
Li-Fraumeni syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA000374

rs_483352695

7 SubmittersRCV000087173 RCV000161036 RCV000460370 RCV000785556 RCV002288585

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

SNV
Germline

Chr22:28695166

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Malignant tumor of prostate
Li-Fraumeni syndrome 2
Bone osteosarcoma
Malignant tumor of breast
Breast and/or ovarian cancer
CHEK2-related cancer predisposition
Condition: not provided
not specified
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA230682

rs_121908705

16 SubmittersRCV000449435 RCV000515378 RCV001356532 RCV001798305 RCV004556718 RCV000114765 RCV000160437 RCV000196666

NM_007194.4(CHEK2):c.1421G>A (p.Arg474His)

SNV
Germline

Chr22:28694072

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome 2
Breast and/or ovarian cancer
not specified
CHEK2-related disorder
Hereditary breast ovarian cancer syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA230684

rs_121908706

19 SubmittersRCV003387763 RCV003492448 RCV004700414 RCV004737196 RCV004804112 RCV000114766 RCV000116000 RCV000206096

NM_000546.6(TP53):c.173C>G (p.Pro58Arg)

SNV
Germline

Chr17:7676196

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Li-Fraumeni syndrome 1
Li-Fraumeni syndrome
Breast and/or ovarian cancer
TP53-related disorder

Criteria Provided
Conflicting Classifications

CA000061

rs_144386518

13 SubmittersRCV000115715 RCV000122181 RCV000586104 RCV000662515 RCV001086750 RCV003492489 RCV003952551

NM_000546.6(TP53):c.248C>T (p.Ala83Val)

SNV
Germline

Chr17:7676121

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1
Condition: not provided
Li-Fraumeni syndrome
not specified
TP53-related disorder

Criteria Provided
Conflicting Classifications

CA000083

rs_201717599

10 SubmittersRCV000115716 RCV000409540 RCV000679367 RCV001082818 RCV001796963 RCV003891612

NM_000546.6(TP53):c.466C>T (p.Arg156Cys)

SNV
Germline

Chr17:7675146

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1
11 conditions
not specified
Adrenocortical carcinoma, hereditary

Criteria Provided
Conflicting Classifications

CA000214

rs_563378859

12 SubmittersRCV000115721 RCV000213051 RCV000232885 RCV000409094 RCV000764146 RCV002465516 RCV003467058

NM_000546.6(TP53):c.472C>T (p.Arg158Cys)

SNV
Germline/somatic

Chr17:7675140

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Li-Fraumeni syndrome
Lip and oral cavity carcinoma
Li-Fraumeni syndrome 1
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA000225

rs_587780068

12 SubmittersRCV000115723 RCV000508084 RCV000533951 RCV001255633 RCV002288596 RCV003483477

NM_000546.6(TP53):c.485T>G (p.Ile162Ser)

SNV
Germline

Chr17:7675127

Conflicting classifications of pathogenicity

Condition: not provided
Li-Fraumeni syndrome

Criteria Provided
Conflicting Classifications

CA000237

rs_587780069

3 SubmittersRCV000115724 RCV003621502

NM_000546.6(TP53):c.488A>G (p.Tyr163Cys)

SNV
Germline/somatic

Chr17:7675124

Pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Ovarian neoplasm
Li-Fraumeni syndrome 1

Reviewed By Expert Panel

CA000240

rs_148924904

6 SubmittersRCV000115725 RCV000492788 RCV000526324 RCV000785334 RCV004019613

NM_000546.6(TP53):c.535C>T (p.His179Tyr)

SNV
Germline/somatic

Chr17:7675077

Pathogenic/Likely pathogenic

Condition: not provided
Adrenocortical carcinoma, hereditary
Hereditary cancer-predisposing syndrome
Neoplasm
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1
Ovarian neoplasm

Criteria Provided
Multiple Submitters
No Conflicts

CA000256

rs_587780070

9 SubmittersRCV000115726 RCV003460828 RCV002288597 RCV004668781 RCV000555493 RCV000663095 RCV000785312

NM_000546.6(TP53):c.580C>T (p.Leu194Phe)

SNV
Germline/somatic

Chr17:7674951

Pathogenic/Likely pathogenic

Condition: not provided
Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1
Adrenal cortex carcinoma

Criteria Provided
Multiple Submitters
No Conflicts

CA000278

rs_587780071

6 SubmittersRCV000115728 RCV001377420 RCV002288599 RCV002288598 RCV003997297

NM_000546.6(TP53):c.604C>T (p.Arg202Cys)

SNV
Germline

Chr17:7674927

Conflicting classifications of pathogenicity

Condition: not provided
Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1
TP53-related disorder
Adrenocortical carcinoma, hereditary

Criteria Provided
Conflicting Classifications

CA000288

rs_587780072

12 SubmittersRCV000115729 RCV000473040 RCV000563913 RCV001257499 RCV004724809 RCV004567015

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
Adrenocortical carcinoma, hereditary
TP53-related disorder
Adrenal cortex carcinoma
Neoplasm

Reviewed By Expert Panel

CA000315

rs_121912666

27 SubmittersRCV000115731 RCV000213055 RCV000232050 RCV000433936 RCV000785544 RCV001310212 RCV001579295 RCV001527468 RCV002490776 RCV003162539 RCV003460829 RCV003407499 RCV003997298 RCV004668782

NM_000546.6(TP53):c.701A>G (p.Tyr234Cys)

SNV
Germline/somatic

Chr17:7674262

Pathogenic/Likely pathogenic

Condition: not provided
Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Ovarian neoplasm
Li-Fraumeni syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA000337

rs_587780073

9 SubmittersRCV000115732 RCV000200601 RCV000492245 RCV000785536 RCV001808343

NM_000546.6(TP53):c.737T>G (p.Met246Arg)

SNV
Germline

Chr17:7674226

Conflicting classifications of pathogenicity

Condition: not provided
Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA000376

rs_587780074

3 SubmittersRCV000115734 RCV001344441 RCV002381420

NM_000546.6(TP53):c.91G>A (p.Val31Ile)

SNV
Germline

Chr17:7676387

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1
Condition: not provided
Hereditary breast ovarian cancer syndrome
Breast and/or ovarian cancer
TP53-related disorder

Criteria Provided
Conflicting Classifications

CA357868

rs_201753350

16 SubmittersRCV000115742 RCV000122173 RCV000123100 RCV000409871 RCV000586196 RCV001030741 RCV003492490 RCV003945046

NM_007194.4(CHEK2):c.-6G>A

SNV
Germline

Chr22:28734727

Conflicting classifications of pathogenicity

Familial cancer of breast
Condition: not provided
Hereditary cancer-predisposing syndrome
not specified
Malignant tumor of breast
Familial cancer of breast
Bone osteosarcoma
Malignant tumor of prostate
Li-Fraumeni syndrome 2
Colorectal cancer
CHEK2-related disorder

Criteria Provided
Conflicting Classifications

CA288250

rs_376995740

10 SubmittersRCV000197200 RCV000590166 RCV000776065 RCV000722128 RCV001357979 RCV003224152 RCV004542827

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
Malignant tumor of breast
Familial cancer of breast
Lung cancer
Ovarian neoplasm
Familial cancer of breast
Bone osteosarcoma
Malignant tumor of prostate
Li-Fraumeni syndrome 2
Colorectal cancer
Bone osteosarcoma
CHEK2-related disorder

Criteria Provided
Conflicting Classifications

CA288254

rs_531398630

18 SubmittersRCV000115982 RCV000197709 RCV000212449 RCV000656834 RCV000677873 RCV001030625 RCV001355387 RCV001527478 RCV002477284 RCV003448266 RCV004529939

NM_007194.4(CHEK2):c.1215C>A (p.Asn405Lys)

SNV
Germline

Chr22:28695754

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Li-Fraumeni syndrome 2
Malignant tumor of prostate
Familial cancer of breast
Bone osteosarcoma
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA288266

rs_587780171

11 SubmittersRCV000115989 RCV000219945 RCV000199599 RCV000764373 RCV004764764

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
Familial cancer of breast
Bone osteosarcoma
Malignant tumor of prostate
Li-Fraumeni syndrome 2
Condition: not provided
not specified
Malignant tumor of breast
Breast and/or ovarian cancer
CHEK2-related disorder
CHEK2-related cancer predisposition
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA288272

rs_139366548

25 SubmittersRCV000115993 RCV000197909 RCV000515214 RCV000590008 RCV001175351 RCV001355460 RCV003492501 RCV004528802 RCV004556723 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
Familial cancer of breast
Bone osteosarcoma
Malignant tumor of prostate
Li-Fraumeni syndrome 2
Condition: not provided
Malignant tumor of breast
Li-Fraumeni syndrome 2
Carcinoma of colon
Breast and/or ovarian cancer
Hereditary cancer
Hereditary breast ovarian cancer syndrome
CHEK2-related cancer predisposition
CHEK2-related disorder

Criteria Provided
Conflicting Classifications

CA151527

rs_200050883

33 SubmittersRCV000115996 RCV000199565 RCV000200982 RCV000515311 RCV000587890 RCV001269492 RCV001294021 RCV001356041 RCV001798350 RCV003492502 RCV003483481 RCV004556724 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
Familial cancer of breast
Malignant tumor of prostate
Carcinoma of colon
Lung carcinoma
Condition: not provided
Familial cancer of breast
Bone osteosarcoma
Malignant tumor of prostate
Li-Fraumeni syndrome 2
not specified
Li-Fraumeni syndrome 2

Criteria Provided
Conflicting Classifications

CA288280

rs_540635787

18 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
Colorectal cancer
Breast neoplasm
not specified
Colon cancer
Breast carcinoma
Malignant tumor of breast
Breast and/or ovarian cancer
Li-Fraumeni syndrome 2
CHEK2-related disorder
Familial prostate cancer
Familial cancer of breast
CHEK2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA288282

rs_142763740

46 SubmittersRCV000116001 RCV000198554 RCV000212465 RCV000210077 RCV000259876 RCV000317389 RCV000499890 RCV001564016 RCV001572627 RCV001357877 RCV001798351 RCV003444200 RCV004528804 RCV004820830 RCV004556725

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
Familial cancer of breast
Bone osteosarcoma
Malignant tumor of prostate
Li-Fraumeni syndrome 2
not specified
Familial cancer of breast
Malignant tumor of prostate
Colorectal cancer
CHEK2-related disorder

Criteria Provided
Conflicting Classifications

CA288288

rs_587780179

14 SubmittersRCV000116004 RCV000200569 RCV000212472 RCV000764368 RCV000781300 RCV003483482 RCV004528805

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
Breast and/or ovarian cancer
Li-Fraumeni syndrome 2
Gastric cancer
Familial cancer of breast
Familial prostate cancer
Li-Fraumeni syndrome 2
Bone osteosarcoma
Familial prostate cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA288290

rs_200432447

20 SubmittersRCV000116005 RCV000210124 RCV000212474 RCV000471222 RCV000589100 RCV001798352 RCV001705822 RCV003162543 RCV004819219 RCV004796022

NM_007194.4(CHEK2):c.1556G>T (p.Arg519Leu)

SNV
Germline

Chr22:28687973

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
not specified
Familial cancer of breast
Bone osteosarcoma
Malignant tumor of prostate
Li-Fraumeni syndrome 2
Condition: not provided
Malignant tumor of breast
Breast and/or ovarian cancer
Predisposition to cancer
CHEK2-related disorder
Hereditary cancer

Criteria Provided
Conflicting Classifications

CA288294

rs_587780180

28 SubmittersRCV000116007 RCV000198277 RCV000212476 RCV000515321 RCV000586195 RCV001357730 RCV001798353 RCV002291560 RCV004529941 RCV003492503

NM_007194.4(CHEK2):c.190G>A (p.Glu64Lys)

SNV
Germline

Chr22:28734532

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Breast and colorectal cancer, susceptibility to
Malignant tumor of breast
Breast and/or ovarian cancer
not specified
Hereditary breast ovarian cancer syndrome
Predisposition to cancer
Li-Fraumeni syndrome 2
CHEK2-related disorder
CHEK2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA288298

rs_141568342

35 SubmittersRCV000116009 RCV000199067 RCV000212407 RCV000210191 RCV001356247 RCV001270935 RCV002465520 RCV002265610 RCV003153376 RCV003338414 RCV004528806 RCV004556726

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
Familial cancer of breast
Li-Fraumeni syndrome 2
Breast and/or ovarian cancer
CHEK2-related disorder
Hereditary cancer
CHEK2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA231722

rs_121908700

22 SubmittersRCV000116011 RCV000119289 RCV000195943 RCV000212412 RCV001171460 RCV001798354 RCV004528807 RCV003492504 RCV004556727

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
Prostate cancer susceptibility
Breast cancer, susceptibility to
Malignant tumor of breast
Hereditary breast ovarian cancer syndrome
Predisposition to cancer
Li-Fraumeni syndrome 2
Breast and/or ovarian cancer
Li-Fraumeni syndrome 2
Colorectal cancer
Familial cancer of breast
Bone osteosarcoma
Malignant tumor of prostate
CHEK2-related disorder
CHEK2-related cancer predisposition

Criteria Provided
Multiple Submitters
No Conflicts

CA288301

rs_28909982

42 SubmittersRCV000116012 RCV000204429 RCV000212414 RCV001258041 RCV001263516 RCV001374534 RCV001526815 RCV001787918 RCV001798355 RCV002498498 RCV003114263 RCV004556728

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
Li-Fraumeni syndrome 2
Familial cancer of breast
Bone osteosarcoma
Malignant tumor of prostate
Li-Fraumeni syndrome 2
Familial cancer of breast
Breast and/or ovarian cancer
Malignant tumor of breast
Breast carcinoma
Li-Fraumeni syndrome 2
Colorectal cancer
Endometrial carcinoma
Melanoma
TUMOR PREDISPOSITION SYNDROME 4, BREAST/PROSTATE
CHEK2-related disorder
CHEK2-related cancer predisposition
Inherited breast cancer and ovarian cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA288309

rs_121908698

51 SubmittersRCV000116017 RCV000196718 RCV000210090 RCV000212418 RCV000501923 RCV000763475 RCV001171461 RCV001270936 RCV001354639 RCV001554253 RCV001705823 RCV002463642 RCV003128145 RCV002508922 RCV003333693 RCV004737199 RCV004556730 RCV004772840

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
Li-Fraumeni syndrome 2
Predisposition to cancer

Criteria Provided
Conflicting Classifications

CA288310

rs_72552323

8 SubmittersRCV000116019 RCV000464571 RCV000766748 RCV001292859 RCV003444201

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
Li-Fraumeni syndrome 2
CHEK2-related cancer predisposition
CHEK2-related disorder

Criteria Provided
Conflicting Classifications

CA288312

rs_575910805

21 SubmittersRCV000116020 RCV000586231 RCV001005035 RCV001549277 RCV001798357 RCV003387765 RCV004556731 RCV004529942

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
Hereditary breast ovarian cancer syndrome
Li-Fraumeni syndrome 2
Colonic neoplasm
not specified
CHEK2-related cancer predisposition
Inherited breast cancer and ovarian cancer

Criteria Provided
Conflicting Classifications

CA288331

rs_587780192

19 SubmittersRCV000116033 RCV000212440 RCV000228767 RCV001355901 RCV001391209 RCV001192409 RCV001251038 RCV001579302 RCV003320458 RCV004556733 RCV004584194

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

SNV
Germline

Chr22:28734664

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Familial ovarian cancer
Breast carcinoma
Li-Fraumeni syndrome 2
Inherited breast cancer and ovarian cancer
Li-Fraumeni syndrome 2
Familial cancer of breast
Bone osteosarcoma
Familial prostate cancer

Criteria Provided
Conflicting Classifications

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
Familial cancer of breast
Bone osteosarcoma
Malignant tumor of prostate
Li-Fraumeni syndrome 2
Condition: not provided
CHEK2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA158095

rs_371657037

12 SubmittersRCV000120553 RCV000132037 RCV000231176 RCV000765627 RCV000766741 RCV004556735

NM_000546.6(TP53):c.605G>A (p.Arg202His)

SNV
Germline

Chr17:7674926

Conflicting classifications of pathogenicity

not specified
Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Malignant tumor of breast

Criteria Provided
Conflicting Classifications

CA000289

rs_587778719

7 SubmittersRCV000122175 RCV000459232 RCV000567735 RCV001030735 RCV001358628

NM_000546.6(TP53):c.638G>A (p.Arg213Gln)

SNV
Germline/somatic

Chr17:7674893

Pathogenic/Likely pathogenic

not specified
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Poly (ADP-Ribose) polymerase inhibitor response
Lip and oral cavity carcinoma
Breast and/or ovarian cancer
Adrenocortical carcinoma, hereditary
TP53-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA000302

rs_587778720

25 SubmittersRCV000122176 RCV000123099 RCV000144664 RCV000130072 RCV000420734 RCV000626448 RCV001255672 RCV001798386 RCV003460862 RCV004745203

NM_007194.4(CHEK2):c.283C>T (p.Arg95Ter)

SNV
Germline

Chr22:28734439

Pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
not specified
Malignant tumor of breast
Hereditary breast ovarian cancer syndrome
Li-Fraumeni syndrome 2
Bone osteosarcoma
Colorectal cancer
Familial cancer of breast
Malignant tumor of prostate
Gastric cancer
CHEK2-related disorder
CHEK2-related cancer predisposition

Criteria Provided
Multiple Submitters
No Conflicts

CA163528

rs_587781269

21 SubmittersRCV000128901 RCV000215973 RCV000232015 RCV001002335 RCV001354537 RCV002225419 RCV002505102 RCV003162571 RCV004737213 RCV004556738

NM_000546.6(TP53):c.422G>A (p.Cys141Tyr)

SNV
Germline/somatic

Chr17:7675190

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1
Neoplasm
Ovarian neoplasm
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA000174

rs_587781288

7 SubmittersRCV000128975 RCV000472876 RCV002288619 RCV004668787 RCV000785510 RCV001582600

NM_000546.6(TP53):c.844C>G (p.Arg282Gly)

SNV
Germline/somatic

Chr17:7673776

Pathogenic

Hereditary cancer-predisposing syndrome
Ovarian neoplasm
Li-Fraumeni syndrome 1
Condition: not provided
Li-Fraumeni syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA000453

rs_28934574

6 SubmittersRCV000129010 RCV000785299 RCV002288620 RCV004719707 RCV001380073

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
Bone osteosarcoma
Malignant tumor of prostate
Li-Fraumeni syndrome 2
Hereditary breast ovarian cancer syndrome
not specified

Criteria Provided
Conflicting Classifications

CA163957

rs_587781379

11 SubmittersRCV000129204 RCV000214585 RCV000227256 RCV000765620 RCV001030685 RCV001201286

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
Li-Fraumeni syndrome 2
not specified
CHEK2-related disorder

Criteria Provided
Conflicting Classifications

CA294007

rs_141776984

12 SubmittersRCV000129205 RCV000205087 RCV000590667 RCV001292616 RCV001731481 RCV004737215

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
Familial cancer of breast
Bone osteosarcoma
Malignant tumor of prostate
Li-Fraumeni syndrome 2
Colorectal cancer
CHEK2-related disorder

Criteria Provided
Conflicting Classifications

CA294010

rs_564605612

15 SubmittersRCV000129213 RCV000206213 RCV000212468 RCV000590757 RCV001798435 RCV002478384 RCV004528849

NM_000546.6(TP53):c.642T>G (p.His214Gln)

SNV
Germline

Chr17:7674889

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA000305

rs_587781386

10 SubmittersRCV000129218 RCV000195927 RCV000410083 RCV001283869 RCV002267869

NM_007194.4(CHEK2):c.1423T>A (p.Phe475Ile)

SNV
Germline

Chr22:28694070

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
not specified
Malignant tumor of breast
Familial cancer of breast
Bone osteosarcoma
Malignant tumor of prostate
Li-Fraumeni syndrome 2
Colorectal cancer
CHEK2-related disorder
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA294041

rs_370968992

16 SubmittersRCV000129382 RCV000212464 RCV000206734 RCV000781308 RCV001356630 RCV002483259 RCV004528850 RCV004760388

NM_000546.6(TP53):c.358A>G (p.Lys120Glu)

SNV
Germline/somatic

Chr17:7676011

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Li-Fraumeni syndrome
Ovarian neoplasm
Li-Fraumeni syndrome 1

Criteria Provided
Conflicting Classifications

CA000130

rs_121912658

5 SubmittersRCV000129457 RCV000213049 RCV000696142 RCV000785522 RCV004019730

NM_000546.6(TP53):c.314G>A (p.Gly105Asp)

SNV
Germline

Chr17:7676055

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Conflicting Classifications

CA000102

rs_587781504

6 SubmittersRCV000129479 RCV000201000 RCV000228756 RCV002288625

NM_007194.4(CHEK2):c.1175C>T (p.Ala392Val)

SNV
Germline

Chr22:28695794

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Li-Fraumeni syndrome 2
Hereditary breast ovarian cancer syndrome
not specified
Malignant tumor of breast

Criteria Provided
Conflicting Classifications

CA164560

rs_373073383

15 SubmittersRCV000129508 RCV000589481 RCV000206654 RCV003493452 RCV003483495 RCV001175352 RCV001357703

NM_000546.6(TP53):c.842A>G (p.Asp281Gly)

SNV
Germline

Chr17:7673778

Pathogenic

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA000450

rs_587781525

6 SubmittersRCV000129516 RCV000633367 RCV002288626 RCV003237737

NM_000546.6(TP53):c.337T>G (p.Phe113Val)

SNV
Germline

Chr17:7676032

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Conflicting Classifications

CA000124

rs_587781642

4 SubmittersRCV000129770 RCV000633376 RCV002288629

NM_000546.6(TP53):c.1082G>A (p.Gly361Glu)

SNV
Germline

Chr17:7670627

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1
not specified
Condition: not provided
Li-Fraumeni syndrome

Criteria Provided
Conflicting Classifications

CA000032

rs_587781663

7 SubmittersRCV000129812 RCV002288630 RCV000581885 RCV001753512 RCV002512534

NM_000546.6(TP53):c.1101-2A>G

SNV
Germline/somatic

Chr17:7669692

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Condition: not provided
Li-Fraumeni syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA000038

rs_587781664

6 SubmittersRCV000129814 RCV000206779 RCV000213070 RCV002288631

NM_000546.6(TP53):c.920-1G>A

SNV
Germline/somatic

Chr17:7673609

Pathogenic

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Condition: not provided
Ovarian neoplasm
Li-Fraumeni syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA000499

rs_587781702

7 SubmittersRCV000129871 RCV001235868 RCV000421521 RCV000785548 RCV002288632

NM_007194.4(CHEK2):c.216T>G (p.Tyr72Ter)

SNV
Germline

Chr22:28734506

Pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Li-Fraumeni syndrome 2
Bone osteosarcoma
Familial cancer of breast
Malignant tumor of prostate
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA165273

rs_587781705

6 SubmittersRCV000129876 RCV001247758 RCV000763478 RCV004998264

NM_000546.6(TP53):c.125A>G (p.Asp42Gly)

SNV
Germline

Chr17:7676244

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Conflicting Classifications

CA000052

rs_587781767

3 SubmittersRCV000129995 RCV002288633

NM_000546.6(TP53):c.1120G>A (p.Gly374Ser)

SNV
Germline

Chr17:7669671

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Adrenocortical carcinoma, hereditary

Criteria Provided
Conflicting Classifications

CA000040

rs_587781858

4 SubmittersRCV000130166 RCV001313040 RCV003474760

NM_000546.6(TP53):c.404G>A (p.Cys135Tyr)

SNV
Germline

Chr17:7675208

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Conflicting Classifications

CA000160

rs_587781991

6 SubmittersRCV000130396 RCV000581322 RCV001069143 RCV004019738

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

Criteria Provided
Multiple Submitters
No Conflicts

CA000423

rs_55832599

19 SubmittersRCV000130398 RCV000413074 RCV000538977 RCV000763416 RCV001255676 RCV002247507 RCV002288637 RCV003149899 RCV003460927 RCV004797597

NM_000546.6(TP53):c.859G>A (p.Glu287Lys)

SNV
Germline

Chr17:7673761

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Conflicting Classifications

CA000466

rs_587782006

3 SubmittersRCV000130426 RCV000813960 RCV002288638

NM_007194.4(CHEK2):c.1169A>C (p.Tyr390Ser)

SNV
Germline

Chr22:28695800

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Premature ovarian failure
Hereditary breast ovarian cancer syndrome
Malignant tumor of breast
Malignant tumor of prostate
Li-Fraumeni syndrome 2

Criteria Provided
Multiple Submitters
No Conflicts

CA166521

rs_200928781

15 SubmittersRCV000130486 RCV000222009 RCV000206869 RCV001270242 RCV001175336 RCV001355927 RCV001787089 RCV003448269

NM_007194.4(CHEK2):c.1534C>G (p.Leu512Val)

SNV
Germline

Chr22:28689143

Conflicting classifications of pathogenicity

Familial cancer of breast
Condition: not provided
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 2
Bone osteosarcoma
Familial cancer of breast
Malignant tumor of prostate
not specified

Criteria Provided
Conflicting Classifications

CA166627

rs_17882942

10 SubmittersRCV000197078 RCV000587712 RCV000130543 RCV000764367 RCV004782245

NM_000546.6(TP53):c.745A>T (p.Arg249Trp)

SNV
Germline

Chr17:7674218

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Condition: not provided
Adrenocortical carcinoma, hereditary
Li-Fraumeni syndrome 1

Criteria Provided
Conflicting Classifications

CA000389

rs_587782082

5 SubmittersRCV000130578 RCV002514731 RCV003237740 RCV003460931 RCV004019741

NM_000546.6(TP53):c.248C>A (p.Ala83Glu)

SNV
Germline

Chr17:7676121

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1
Li-Fraumeni syndrome

Criteria Provided
Conflicting Classifications

CA000082

rs_201717599

3 SubmittersRCV000130694 RCV002288640 RCV001303642

NM_000546.6(TP53):c.473G>A (p.Arg158His)

SNV
Germline

Chr17:7675139

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1
Rhabdomyosarcoma
Adrenocortical carcinoma, hereditary
Breast and/or ovarian cancer
12 conditions
TP53-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA000227

rs_587782144

26 SubmittersRCV000130708 RCV000255654 RCV000227859 RCV000496787 RCV001257522 RCV003461996 RCV003492603 RCV004796030 RCV004797598

NM_000546.6(TP53):c.256G>A (p.Ala86Thr)

SNV
Germline

Chr17:7676113

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Li-Fraumeni syndrome
not specified

Criteria Provided
Conflicting Classifications

CA000088

rs_587782148

6 SubmittersRCV000130712 RCV000478688 RCV000633343 RCV002247510

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
Li-Fraumeni syndrome 2
Bone osteosarcoma
Familial cancer of breast
Malignant tumor of prostate
Hereditary breast ovarian cancer syndrome
Condition: not provided
Endometrial carcinoma
not specified
CHEK2-related disorder

Criteria Provided
Conflicting Classifications

CA294225

rs_146198085

22 SubmittersRCV000130733 RCV000198345 RCV000515236 RCV002225433 RCV000589669 RCV001356295 RCV000855592 RCV004532565

NM_000546.6(TP53):c.434T>C (p.Leu145Pro)

SNV
Germline/somatic

Chr17:7675178

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ovarian neoplasm
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Conflicting Classifications

CA000188

rs_587782197

4 SubmittersRCV000130857 RCV000785265 RCV001232651 RCV004019742

NM_000546.6(TP53):c.1072G>A (p.Glu358Lys)

SNV
Germline

Chr17:7670637

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1
Li-Fraumeni syndrome

Criteria Provided
Conflicting Classifications

CA000027

rs_587782237

3 SubmittersRCV000130938 RCV002288643 RCV001229943

NM_000546.6(TP53):c.770T>G (p.Leu257Arg)

SNV
Germline

Chr17:7674193

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome

Criteria Provided
Conflicting Classifications

CA000404

rs_28934577

2 SubmittersRCV000130981 RCV001233712

NM_000546.6(TP53):c.916C>T (p.Arg306Ter)

SNV
Germline/somatic

Chr17:7673704

Pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1
Hereditary breast ovarian cancer syndrome
Ovarian neoplasm
Gastric cancer
Lip and oral cavity carcinoma
Lung adenocarcinoma
Neoplasm

Criteria Provided
Multiple Submitters
No Conflicts

CA000495

rs_121913344

19 SubmittersRCV000130997 RCV000356380 RCV000232963 RCV001310214 RCV002307404 RCV000785333 RCV003162584 RCV001255680 RCV003322599 RCV004668794

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

Criteria Provided
Multiple Submitters
No Conflicts

CA000528

rs_587782272

7 SubmittersRCV000131124 RCV000786811 RCV001380070 RCV002288645 RCV003992194

NM_000546.6(TP53):c.706T>G (p.Tyr236Asp)

SNV
Germline

Chr17:7674257

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Conflicting Classifications

CA000344

rs_587782289

3 SubmittersRCV000131168 RCV001214095 RCV004019744

NM_000546.6(TP53):c.746G>A (p.Arg249Lys)

SNV
Germline

Chr17:7674217

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Conflicting Classifications

CA000391

rs_587782329

5 SubmittersRCV000131246 RCV000724753 RCV001857457 RCV002288647

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
Li-Fraumeni syndrome 2
Bone osteosarcoma
Colorectal cancer
Familial cancer of breast
Malignant tumor of prostate

Criteria Provided
Conflicting Classifications

CA294339

rs_587782347

15 SubmittersRCV000131287 RCV000212441 RCV000231753 RCV002271417 RCV002483267

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
TP53-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA000259

rs_397514495

24 SubmittersRCV000131382 RCV000168247 RCV000255239 RCV000576528 RCV000989718 RCV001391195 RCV001527471 RCV003462011 RCV004745211

NM_007194.4(CHEK2):c.319+2T>A

SNV
Germline

Chr22:28734401

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Li-Fraumeni syndrome 2
Bone osteosarcoma
Malignant tumor of prostate
Familial cancer of breast
Breast cancer, susceptibility to
Prostate cancer susceptibility
Malignant tumor of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA294375

rs_587782401

17 SubmittersRCV000131434 RCV000212411 RCV000515447 RCV000545158 RCV001258067 RCV003492621

NM_000546.6(TP53):c.1100+13A>G

SNV
Germline

Chr17:7670596

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome

Criteria Provided
Conflicting Classifications

CA000037

rs_77881630

2 SubmittersRCV000131467 RCV002514746

NM_007194.4(CHEK2):c.707T>C (p.Leu236Pro)

SNV
Germline

Chr22:28711994

Likely pathogenic

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Familial cancer of breast
Condition: not provided
Familial cancer of breast
Li-Fraumeni syndrome 2
Hereditary breast ovarian cancer syndrome
Predisposition to cancer
Li-Fraumeni syndrome 2
CHEK2-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA294400

rs_587782471

16 SubmittersRCV000131577 RCV000212433 RCV000199653 RCV000586622 RCV000791342 RCV003153427 RCV003389239 RCV004737226

NM_007194.4(CHEK2):c.1510G>C (p.Glu504Gln)

SNV
Germline

Chr22:28689167

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 2
Bone osteosarcoma
Familial cancer of breast
Malignant tumor of prostate
Hereditary cancer
not specified
Familial cancer of breast
Condition: not provided

Criteria Provided
Conflicting Classifications

CA168459

rs_587782489

11 SubmittersRCV000131614 RCV000764369 RCV004700451 RCV001251282 RCV000198676 RCV000214263

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
Li-Fraumeni syndrome 2

Criteria Provided
Multiple Submitters
No Conflicts

CA294427

rs_72552322

22 SubmittersRCV000131700 RCV000200030 RCV000210071 RCV000212424 RCV001554290 RCV002291570 RCV003987371 RCV004764770 RCV004776433

NM_007194.4(CHEK2):c.1216C>T (p.Arg406Cys)

SNV
Germline

Chr22:28695753

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome 2
Bone osteosarcoma
Familial cancer of breast
Malignant tumor of prostate
Hereditary cancer-predisposing syndrome
Malignant tumor of breast
Condition: not provided
Familial cancer of breast
CHEK2-related disorder
Li-Fraumeni syndrome 2
not specified
Breast and/or ovarian cancer

Criteria Provided
Conflicting Classifications

CA294433

rs_587782527

18 SubmittersRCV000515410 RCV000131715 RCV001356488 RCV000587346 RCV000228975 RCV004532574 RCV004776434 RCV000855593 RCV003492628

NM_000546.6(TP53):c.1009C>T (p.Arg337Cys)

SNV
Germline/somatic

Chr17:7670700

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Ovarian neoplasm
Li-Fraumeni syndrome 1
Condition: not provided
Adrenocortical carcinoma, hereditary
Neoplasm

Criteria Provided
Multiple Submitters
No Conflicts

CA000010

rs_587782529

13 SubmittersRCV000131726 RCV000475086 RCV000785479 RCV001310211 RCV001781474 RCV003467184 RCV004668798

NM_000546.6(TP53):c.1079G>T (p.Gly360Val)

SNV
Germline

Chr17:7670630

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA000030

rs_35993958

9 SubmittersRCV000131746 RCV000195550 RCV002267882 RCV001284721

NM_000546.6(TP53):c.541C>T (p.Arg181Cys)

SNV
Germline

Chr17:7675071

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Condition: not provided
Adrenocortical carcinoma, hereditary
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA000257

rs_587782596

7 SubmittersRCV000131943 RCV000168292 RCV000236276 RCV003474780 RCV004544301

NM_000546.6(TP53):c.427G>A (p.Val143Met)

SNV
Germline

Chr17:7675185

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Adrenocortical carcinoma, hereditary
Li-Fraumeni syndrome 1
Breast neoplasm
Condition: not provided
Malignant tumor of breast

Criteria Provided
Conflicting Classifications

CA000176

rs_587782620

9 SubmittersRCV000132003 RCV000227179 RCV003474783 RCV000409072 RCV000413546 RCV001560552 RCV001354661

NM_000546.6(TP53):c.19G>C (p.Asp7His)

SNV
Germline

Chr17:7676576

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Condition: not provided
Li-Fraumeni syndrome 1

Criteria Provided
Conflicting Classifications

CA000065

rs_587782646

5 SubmittersRCV000132048 RCV001364215 RCV001559782 RCV002288651

NM_000546.6(TP53):c.910A>G (p.Thr304Ala)

SNV
Germline

Chr17:7673710

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1
Li-Fraumeni syndrome

Criteria Provided
Conflicting Classifications

CA000493

rs_587782654

5 SubmittersRCV000132069 RCV002288653 RCV001050775

NM_000546.6(TP53):c.711G>A (p.Met237Ile)

SNV
Germline/somatic

Chr17:7674252

Pathogenic

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
not specified
Ovarian neoplasm
Breast and/or ovarian cancer
Condition: not provided
Adrenocortical carcinoma, hereditary
Neoplasm
Li-Fraumeni syndrome 1

Reviewed By Expert Panel

CA000349

rs_587782664

11 SubmittersRCV000132084 RCV000464261 RCV000581940 RCV000785336 RCV001271055 RCV001567943 RCV003462031 RCV004668799 RCV001527088

NM_000546.6(TP53):c.455C>T (p.Pro152Leu)

SNV
Germline/somatic

Chr17:7675157

Pathogenic

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Lip and oral cavity carcinoma
Neoplasm
TP53-related disorder
Condition: not provided
Li-Fraumeni syndrome 1
Familial cancer of breast
Squamous cell carcinoma of the head and neck
Adrenocortical carcinoma, hereditary

Reviewed By Expert Panel

CA000204

rs_587782705

19 SubmittersRCV000132156 RCV000168122 RCV001255632 RCV004668801 RCV004797600 RCV000583667 RCV000677669 RCV000755703 RCV001270267 RCV003462034

NM_000546.6(TP53):c.1010G>T (p.Arg337Leu)

SNV
Germline/somatic

Chr17:7670699

Likely pathogenic

Hereditary cancer-predisposing syndrome
Ovarian neoplasm
Li-Fraumeni syndrome 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA000015

rs_121912664

5 SubmittersRCV000132259 RCV000785297 RCV002288655 RCV003237742

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

Criteria Provided
Conflicting Classifications

CA000017

rs_17882252

11 SubmittersRCV000132285 RCV000254694 RCV001030734 RCV001081368 RCV001127282 RCV003891671

NM_000546.6(TP53):c.171C>A (p.Asp57Glu)

SNV
Germline

Chr17:7676198

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Conflicting Classifications

CA000060

rs_587782776

7 SubmittersRCV000132310 RCV002514753 RCV000411346

NM_000546.6(TP53):c.787A>G (p.Asn263Asp)

SNV
Germline

Chr17:7673833

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1
Condition: not provided
Li-Fraumeni syndrome

Criteria Provided
Conflicting Classifications

CA000419

rs_72661119

9 SubmittersRCV000132389 RCV000663318 RCV000679373 RCV000474969

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
Li-Fraumeni syndrome 2
Breast carcinoma
Hereditary breast ovarian cancer syndrome
Malignant tumor of prostate
CHEK2-related disorder
Malignant tumor of breast
Li-Fraumeni syndrome 2
Bone osteosarcoma
Familial prostate cancer
Li-Fraumeni syndrome 2

Criteria Provided
Multiple Submitters
No Conflicts

CA294532

rs_587782849

26 SubmittersRCV000132447 RCV000228472 RCV000656830 RCV001171462 RCV001554293 RCV002468934 RCV003334383 RCV004532583 RCV004551270 RCV004760396 RCV004796033

NM_000546.6(TP53):c.119T>C (p.Met40Thr)

SNV
Germline

Chr17:7676250

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1
Li-Fraumeni syndrome

Criteria Provided
Conflicting Classifications

CA000050

rs_587782877

4 SubmittersRCV000132511 RCV002288656 RCV002512550

NM_000546.6(TP53):c.665C>T (p.Pro222Leu)

SNV
Germline

Chr17:7674866

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Squamous cell carcinoma of the head and neck
Li-Fraumeni syndrome 1
Breast and/or ovarian cancer
Li-Fraumeni syndrome
Condition: not provided
not specified
TP53-related disorder

Criteria Provided
Conflicting Classifications

CA000317

rs_146340390

17 SubmittersRCV000161032 RCV000989715 RCV000411498 RCV001798464 RCV000148907 RCV000213056 RCV001002287 RCV003905279

NM_000546.6(TP53):c.839G>T (p.Arg280Ile)

SNV
Germline/somatic

Chr17:7673781

Conflicting classifications of pathogenicity

Malignant tumor of prostate
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Conflicting Classifications

CA000447

rs_121912660

3 SubmittersRCV000149052 RCV000633330 RCV004019784

NM_000546.6(TP53):c.797G>A (p.Gly266Glu)

SNV
Germline/somatic

Chr17:7673823

Pathogenic/Likely pathogenic

Malignant tumor of prostate
Condition: not provided
Ovarian neoplasm
Li-Fraumeni syndrome
Neoplasm
Squamous cell carcinoma of the head and neck
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA000421

rs_193920774

10 SubmittersRCV000149050 RCV000255749 RCV000785456 RCV000709403 RCV004668807 RCV000421625 RCV000492556 RCV002288661

NM_000546.6(TP53):c.714T>G (p.Cys238Trp)

SNV
Germline/somatic

Chr17:7674249

Pathogenic/Likely pathogenic

Malignant tumor of prostate
Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA000353

rs_193920789

3 SubmittersRCV000149049 RCV000203823 RCV002362784

NM_000546.6(TP53):c.481G>A (p.Ala161Thr)

SNV
Germline/somatic

Chr17:7675131

Pathogenic/Likely pathogenic

Malignant tumor of prostate
Condition: not provided
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1
Ovarian neoplasm
Li-Fraumeni syndrome
Adrenocortical carcinoma, hereditary

Criteria Provided
Multiple Submitters
No Conflicts

CA000234

rs_193920817

9 SubmittersRCV000149053 RCV000161027 RCV000214033 RCV000761073 RCV000785328 RCV000473543 RCV003474797

NM_000546.6(TP53):c.722C>G (p.Ser241Cys)

SNV
Germline/somatic

Chr17:7674241

Pathogenic/Likely pathogenic

Condition: not provided
Ovarian neoplasm
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA000357

rs_28934573

7 SubmittersRCV000236210 RCV000785321 RCV000492778 RCV000154419 RCV002288664

NM_000546.6(TP53):c.1010G>C (p.Arg337Pro)

SNV
Germline

Chr17:7670699

Likely pathogenic

Li-Fraumeni syndrome
Li-Fraumeni syndrome 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA000014

rs_121912664

5 SubmittersRCV000154527 RCV002288666 RCV001187412

NM_000546.6(TP53):c.375G>A (p.Thr125=)

SNV
Germline/somatic

Chr17:7675994

Pathogenic/Likely pathogenic

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Breast and/or ovarian cancer
Glioma susceptibility 1
Li-Fraumeni syndrome 1
Neoplasm
TP53-related disorder
Adrenocortical carcinoma, hereditary
Malignant tumor of prostate
Rhabdomyosarcoma

Criteria Provided
Multiple Submitters
No Conflicts

CA000144

rs_55863639

23 SubmittersRCV000154460 RCV000218743 RCV000483667 RCV001271053 RCV001530197 RCV002288665 RCV004668810 RCV003398806 RCV003462060 RCV001527480 RCV001257525

NM_000546.6(TP53):c.1024C>T (p.Arg342Ter)

SNV
Germline/somatic

Chr17:7670685

Pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Li-Fraumeni syndrome
Ovarian neoplasm
Gallbladder cancer
Colonic diverticula
Li-Fraumeni syndrome 1
12 conditions
Adrenocortical carcinoma, hereditary
TP53-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA000019

rs_730882029

20 SubmittersRCV000161074 RCV000213069 RCV000549233 RCV000785301 RCV001374440 RCV001554321 RCV002288707 RCV002492644 RCV003474838 RCV004797601

NM_000546.6(TP53):c.993+13G>C

SNV
Germline

Chr17:7673522

Conflicting classifications of pathogenicity

not specified
Li-Fraumeni syndrome 1
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Breast and/or ovarian cancer

Criteria Provided
Conflicting Classifications

CA000522

rs_369599972

5 SubmittersRCV000161051 RCV000409061 RCV000773086 RCV002053941 RCV003149985

NM_000546.6(TP53):c.842A>T (p.Asp281Val)

SNV
Germline

Chr17:7673778

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA000452

rs_587781525

4 SubmittersRCV000161072 RCV000215048 RCV000799325 RCV002288706

NM_000546.6(TP53):c.782+12C>T

SNV
Germline

Chr17:7674169

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1
Li-Fraumeni syndrome

Criteria Provided
Conflicting Classifications

CA000411

rs_17881780

6 SubmittersRCV000161049 RCV000580153 RCV000663058 RCV002053940

NM_000546.6(TP53):c.752T>G (p.Ile251Ser)

SNV
Germline

Chr17:7674211

Conflicting classifications of pathogenicity

Condition: not provided
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA000396

rs_730882027

4 SubmittersRCV000161070 RCV003621508 RCV004019946 RCV004019947

NM_000546.6(TP53):c.751A>C (p.Ile251Leu)

SNV
Germline/somatic

Chr17:7674212

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Ovarian neoplasm
Gastric cancer
Li-Fraumeni syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA000394

rs_730882007

6 SubmittersRCV000161037 RCV000492548 RCV000785277 RCV002280104 RCV002288694

NM_000546.6(TP53):c.728T>C (p.Met243Thr)

SNV
Germline

Chr17:7674235

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Adrenocortical carcinoma, hereditary

Criteria Provided
Conflicting Classifications

CA000365

rs_730882006

4 SubmittersRCV000161035 RCV000222280 RCV000686581 RCV003462110

NM_000546.6(TP53):c.713G>A (p.Cys238Tyr)

SNV
Germline/somatic

Chr17:7674250

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Ovarian neoplasm
Condition: not provided
Li-Fraumeni syndrome 1
Hereditary breast ovarian cancer syndrome
Gallbladder cancer
Adrenocortical carcinoma, hereditary
Neoplasm

Criteria Provided
Multiple Submitters
No Conflicts

CA000351

rs_730882005

12 SubmittersRCV000161034 RCV000167907 RCV000785261 RCV000235220 RCV002288693 RCV004794368 RCV001374444 RCV003462109 RCV004668817

NM_000546.6(TP53):c.709A>G (p.Met237Val)

SNV
Germline

Chr17:7674254

Conflicting classifications of pathogenicity

not specified
Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Conflicting Classifications

CA000348

rs_730882004

5 SubmittersRCV000161033 RCV000200500 RCV001526334 RCV002288692

NM_000546.6(TP53):c.707A>C (p.Tyr236Ser)

SNV
Germline

Chr17:7674256

Conflicting classifications of pathogenicity

Condition: not provided
Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Conflicting Classifications

CA000346

rs_730882026

3 SubmittersRCV000161069 RCV001373091 RCV002288705 RCV002288704

NM_000546.6(TP53):c.646G>A (p.Val216Met)

SNV
Germline/somatic

Chr17:7674885

Pathogenic/Likely pathogenic

Condition: not provided
Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
not specified
Li-Fraumeni syndrome 1
Ovarian neoplasm
Adrenocortical carcinoma, hereditary
Neoplasm

Criteria Provided
Multiple Submitters
No Conflicts

CA000308

rs_730882025

14 SubmittersRCV000161067 RCV000168150 RCV000561534 RCV000583984 RCV000663213 RCV000785523 RCV003474837 RCV004668819

NM_000546.6(TP53):c.575A>G (p.Gln192Arg)

SNV
Germline

Chr17:7674956

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1
Adrenocortical carcinoma, hereditary

Criteria Provided
Conflicting Classifications

CA000273

rs_730882002

5 SubmittersRCV000161029 RCV001024490 RCV001371035 RCV002288689 RCV003462108

NM_000546.6(TP53):c.524G>T (p.Arg175Leu)

SNV
Germline

Chr17:7675088

Likely pathogenic

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1

Reviewed By Expert Panel

CA000252

rs_28934578

4 SubmittersRCV000161065 RCV000810785 RCV002288703

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
Squamous cell carcinoma of the head and neck
Lip and oral cavity carcinoma
Li-Fraumeni syndrome 1
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA000243

rs_730882001

10 SubmittersRCV000161028 RCV000219202 RCV000633373 RCV000785484 RCV001270262 RCV001255634 RCV002288688 RCV002272147

NM_000546.6(TP53):c.380C>T (p.Ser127Phe)

SNV
Germline/somatic

Chr17:7675232

Pathogenic/Likely pathogenic

Condition: not provided
not specified
Ovarian neoplasm
Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Adrenocortical carcinoma, hereditary
Li-Fraumeni syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA000148

rs_730881999

9 SubmittersRCV000161024 RCV000606528 RCV000785332 RCV000633384 RCV003162681 RCV003474836 RCV004019945

NM_000546.6(TP53):c.289G>C (p.Val97Leu)

SNV
Germline

Chr17:7676080

Conflicting classifications of pathogenicity

Condition: not provided
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA000092

rs_730882023

6 SubmittersRCV000161064 RCV001850278 RCV002288701 RCV002288702

NM_000546.6(TP53):c.266C>T (p.Pro89Leu)

SNV
Germline

Chr17:7676103

Conflicting classifications of pathogenicity

Condition: not provided
Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Conflicting Classifications

CA000089

rs_730881994

7 SubmittersRCV000161019 RCV000560488 RCV001016264 RCV002288683

NM_000546.6(TP53):c.97-9C>T

SNV
Germline

Chr17:7676281

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Li-Fraumeni syndrome 1
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome

Criteria Provided
Conflicting Classifications

CA000518

rs_202217267

12 SubmittersRCV000161046 RCV000195920 RCV000410371 RCV000580612 RCV001079867

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
Familial cancer of breast
Li-Fraumeni syndrome 2
Malignant tumor of prostate
Colorectal cancer
Bone osteosarcoma

Criteria Provided
Multiple Submitters
No Conflicts

CA299073

rs_730881687

11 SubmittersRCV000160429 RCV000214915 RCV000464029 RCV002498796

NM_007194.4(CHEK2):c.409C>T (p.Arg137Ter)

SNV
Germline

Chr22:28725278

Pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Familial cancer of breast
Li-Fraumeni syndrome 2
Bone osteosarcoma
Malignant tumor of prostate
Congenital heart defects, multiple types, 3
Hereditary breast ovarian cancer syndrome
Gastric cancer
CHEK2-related cancer predisposition

Criteria Provided
Multiple Submitters
No Conflicts

CA299110

rs_730881701

17 SubmittersRCV000160452 RCV000229303 RCV000254656 RCV000763477 RCV001007871 RCV001526967 RCV003162676 RCV004556752

NM_000546.6(TP53):c.649G>A (p.Val217Met)

SNV
Germline

Chr17:7674882

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA000309

rs_35163653

3 SubmittersRCV000161936 RCV002354406

NM_000546.6(TP53):c.1135C>T (p.Arg379Cys)

SNV
Germline

Chr17:7669656

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1
Li-Fraumeni syndrome

Criteria Provided
Conflicting Classifications

CA000043

rs_749061599

6 SubmittersRCV000166233 RCV002288759 RCV000559034

NM_000546.6(TP53):c.1078G>A (p.Gly360Arg)

SNV
Germline

Chr17:7670631

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Condition: not provided
TP53-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA000028

rs_786203298

7 SubmittersRCV000166545 RCV001241003 RCV001567714 RCV003416041 RCV003987388

NM_000546.6(TP53):c.1000G>A (p.Gly334Arg)

SNV
Germline

Chr17:7670709

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome

Criteria Provided
Conflicting Classifications

CA000006

rs_730882028

2 SubmittersRCV000165615 RCV002516487

NM_000546.6(TP53):c.920-5C>T

SNV
Germline

Chr17:7673613

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA000502

rs_34361146

8 SubmittersRCV001087552 RCV000164926 RCV000587880 RCV001283870

NM_000546.6(TP53):c.856G>A (p.Glu286Lys)

SNV
Germline/somatic

Chr17:7673764

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Condition: not provided
Li-Fraumeni syndrome 1
Vulvar adenocarcinoma of mammary gland type
Neoplasm

Criteria Provided
Multiple Submitters
No Conflicts

CA000464

rs_786201059

7 SubmittersRCV000162466 RCV000466372 RCV000255724 RCV002288710 RCV004813066 RCV004668822

NM_000546.6(TP53):c.830G>A (p.Cys277Tyr)

SNV
Germline

Chr17:7673790

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Adrenocortical carcinoma, hereditary
Condition: not provided
Malignant tumor of breast

Criteria Provided
Conflicting Classifications

CA000438

rs_763098116

8 SubmittersRCV000165199 RCV000456858 RCV003474865 RCV000254809 RCV001357202

NM_000546.6(TP53):c.827C>G (p.Ala276Gly)

SNV
Germline

Chr17:7673793

Pathogenic

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA000436

rs_786202082

2 SubmittersRCV000164718 RCV003765021

NM_000546.6(TP53):c.814G>A (p.Val272Met)

SNV
Germline/somatic

Chr17:7673806

Pathogenic

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Ovarian neoplasm
Condition: not provided
Li-Fraumeni syndrome 1
Neoplasm

Reviewed By Expert Panel

CA000427

rs_121912657

8 SubmittersRCV000165304 RCV000457645 RCV000785341 RCV002243833 RCV001527085 RCV004668825

NM_000546.6(TP53):c.740A>T (p.Asn247Ile)

SNV
Germline/somatic

Chr17:7674223

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ovarian neoplasm
Li-Fraumeni syndrome

Criteria Provided
Conflicting Classifications

CA000378

rs_786201762

3 SubmittersRCV000164218 RCV000785503 RCV001338713

NM_000546.6(TP53):c.736A>C (p.Met246Leu)

SNV
Germline

Chr17:7674227

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome

Criteria Provided
Conflicting Classifications

CA000373

rs_483352695

2 SubmittersRCV000166380 RCV002516500

NM_000546.6(TP53):c.578A>T (p.His193Leu)

SNV
Germline/somatic

Chr17:7674953

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Ovarian neoplasm
Li-Fraumeni syndrome 1

Criteria Provided
Conflicting Classifications

CA000276

rs_786201838

4 SubmittersRCV000165315 RCV000697802 RCV000785542 RCV004019975

NM_000546.6(TP53):c.578A>G (p.His193Arg)

SNV
Germline/somatic

Chr17:7674953

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Squamous cell carcinoma of the head and neck
Li-Fraumeni syndrome
Ovarian neoplasm
Li-Fraumeni syndrome 1
Adrenocortical carcinoma, hereditary

Criteria Provided
Multiple Submitters
No Conflicts

CA000274

rs_786201838

9 SubmittersRCV000164329 RCV000255425 RCV000429618 RCV000460847 RCV000785346 RCV002288732 RCV003474857

NM_000546.6(TP53):c.527G>A (p.Cys176Tyr)

SNV
Germline/somatic

Chr17:7675085

Pathogenic

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Condition: not provided
Adrenal cortex carcinoma
Familial ovarian cancer
Li-Fraumeni syndrome 1
Squamous cell carcinoma
TP53-related disorder
Adrenocortical carcinoma, hereditary

Criteria Provided
Multiple Submitters
No Conflicts

CA000254

rs_786202962

9 SubmittersRCV000166045 RCV000461158 RCV000255616 RCV003995473 RCV001354219 RCV002288754 RCV003128588 RCV003407616 RCV003474872

NM_000546.6(TP53):c.487T>G (p.Tyr163Asp)

SNV
Germline

Chr17:7675125

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome

Criteria Provided
Conflicting Classifications

CA000239

rs_786203436

2 SubmittersRCV000166739 RCV001850353

NM_000546.6(TP53):c.464C>G (p.Thr155Ser)

SNV
Germline

Chr17:7675148

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Li-Fraumeni syndrome

Criteria Provided
Conflicting Classifications

CA000210

rs_786202752

6 SubmittersRCV000165724 RCV000986051 RCV001192618 RCV000804037

NM_000546.6(TP53):c.431A>C (p.Gln144Pro)

SNV
Germline/somatic

Chr17:7675181

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1
Ovarian neoplasm
Li-Fraumeni syndrome

Criteria Provided
Conflicting Classifications

CA000182

rs_786203071

4 SubmittersRCV000166212 RCV002288758 RCV000785331 RCV001850338

NM_000546.6(TP53):c.413C>T (p.Ala138Val)

SNV
Germline/somatic

Chr17:7675199

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Adrenocortical carcinoma, hereditary
Li-Fraumeni syndrome 1
Adrenal cortex carcinoma

Criteria Provided
Conflicting Classifications

CA000168

rs_750600586

5 SubmittersRCV000164195 RCV000813957 RCV003474852 RCV004019963 RCV003995323

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

Criteria Provided
Multiple Submitters
No Conflicts

CA000146

rs_786202799

8 SubmittersRCV000165794 RCV000480344 RCV000554039 RCV000785343 RCV001374443 RCV002288750

NM_000546.6(TP53):c.374C>T (p.Thr125Met)

SNV
Germline/somatic

Chr17:7675995

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1
Adrenocortical carcinoma, hereditary
Neoplasm
TP53-related disorder

Criteria Provided
Conflicting Classifications

CA000140

rs_786201057

18 SubmittersRCV000162461 RCV000237013 RCV000457119 RCV000576336 RCV003462117 RCV004668821 RCV004797602

NM_000546.6(TP53):c.305C>T (p.Thr102Ile)

SNV
Germline

Chr17:7676064

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Li-Fraumeni syndrome 1
Li-Fraumeni syndrome

Criteria Provided
Conflicting Classifications

CA000098

rs_786202717

7 SubmittersRCV000165667 RCV004721282 RCV002288749 RCV000819967

NM_000546.6(TP53):c.100C>G (p.Pro34Ala)

SNV
Germline

Chr17:7676269

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Conflicting Classifications

CA000012

rs_786201968

6 SubmittersRCV000483753 RCV000165887 RCV000205889 RCV002288753

NM_000546.6(TP53):c.100C>A (p.Pro34Thr)

SNV
Germline

Chr17:7676269

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Condition: not provided
Li-Fraumeni syndrome 1

Criteria Provided
Conflicting Classifications

CA000011

rs_786201968

6 SubmittersRCV000164526 RCV000471959 RCV001582646 RCV002288737

NM_000546.6(TP53):c.83A>T (p.Glu28Val)

SNV
Germline

Chr17:7676395

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1
Adrenocortical carcinoma, hereditary

Criteria Provided
Conflicting Classifications

CA000449

rs_786202289

4 SubmittersRCV000165025 RCV001850309 RCV002288739 RCV004567258

NM_000546.6(TP53):c.66A>G (p.Leu22=)

SNV
Germline

Chr17:7676529

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Condition: not provided
Squamous cell carcinoma of the head and neck
not specified
TP53-related disorder

Criteria Provided
Conflicting Classifications

CA000323

rs_748527030

8 SubmittersRCV000163369 RCV000196762 RCV000483133 RCV000989728 RCV001174848 RCV004745236

NM_000546.6(TP53):c.63C>T (p.Asp21=)

SNV
Germline/somatic

Chr17:7676532

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA000304

rs_1800369

12 SubmittersRCV000163241 RCV000196365 RCV000430891 RCV000590622 RCV001270281 RCV003492674

NM_000546.6(TP53):c.1087A>G (p.Arg363Gly)

SNV
Germline

Chr17:7670622

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Condition: not provided
Li-Fraumeni syndrome 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA000033

rs_745751553

5 SubmittersRCV000168038 RCV000483595 RCV002288771 RCV002288772

NM_000546.6(TP53):c.589G>A (p.Val197Met)

SNV
Germline

Chr17:7674942

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Conflicting Classifications

CA000285

rs_786204041

5 SubmittersRCV000167874 RCV001024656 RCV002288770

NM_000546.6(TP53):c.560-9T>A

SNV
Germline

Chr17:7674980

Conflicting classifications of pathogenicity

Condition: not provided
Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Conflicting Classifications

CA000269

rs_794727781

5 SubmittersRCV000179330 RCV001046951 RCV002288783 RCV002288782

NM_000546.6(TP53):c.1025G>C (p.Arg342Pro)

SNV
Germline/somatic

Chr17:7670684

Pathogenic

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Ovarian neoplasm
Condition: not provided
Li-Fraumeni syndrome 1

Reviewed By Expert Panel

CA337802

rs_375338359

8 SubmittersRCV000198319 RCV000213216 RCV000785264 RCV001538204 RCV002288808

NM_000546.6(TP53):c.973G>T (p.Gly325Ter)

SNV
Germline

Chr17:7673555

Pathogenic

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA335679

rs_863224500

3 SubmittersRCV000195434 RCV002372184 RCV002286715

NM_000546.6(TP53):c.964C>T (p.Pro322Ser)

SNV
Germline

Chr17:7673564

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Conflicting Classifications

CA336073

rs_863224687

4 SubmittersRCV000195973 RCV000573146 RCV002288818

NM_000546.6(TP53):c.919+5G>C

SNV
Germline

Chr17:7673696

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA338258

rs_766127339

2 SubmittersRCV000198875 RCV000220008

NM_000546.6(TP53):c.824G>A (p.Cys275Tyr)

SNV
Germline/somatic

Chr17:7673796

Pathogenic/Likely pathogenic

Li-Fraumeni syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Breast carcinoma
Acute myeloid leukemia
Ovarian neoplasm
Neoplasm
Adrenocortical carcinoma, hereditary
Li-Fraumeni syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA337141

rs_863224451

13 SubmittersRCV000197359 RCV000235315 RCV000568594 RCV001610519 RCV003320135 RCV000785533 RCV004668842 RCV003468892 RCV002288809

NM_000546.6(TP53):c.706T>C (p.Tyr236His)

SNV
Germline

Chr17:7674257

Pathogenic/Likely pathogenic

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA338059

rs_587782289

3 SubmittersRCV000198628 RCV000492107 RCV004020463

NM_000546.6(TP53):c.672+1G>A

SNV
Germline/somatic

Chr17:7674858

Pathogenic/Likely pathogenic

Li-Fraumeni syndrome
Condition: not provided
Li-Fraumeni syndrome 1
Hereditary cancer-predisposing syndrome
Neoplasm
Adrenocortical carcinoma, hereditary

Criteria Provided
Multiple Submitters
No Conflicts

CA339249

rs_863224499

9 SubmittersRCV000200333 RCV000786828 RCV002288813 RCV002288814 RCV004668847 RCV003474954

NM_000546.6(TP53):c.584T>C (p.Ile195Thr)

SNV
Germline/somatic

Chr17:7674947

Conflicting classifications of pathogenicity

Lung adenocarcinoma
Condition: not provided
Li-Fraumeni syndrome
Ovarian neoplasm
Hereditary cancer-predisposing syndrome
Breast and/or ovarian cancer
Adrenocortical carcinoma, hereditary
Li-Fraumeni syndrome 1
Neoplasm
TP53-related disorder

Criteria Provided
Conflicting Classifications

CA002232

rs_760043106

13 SubmittersRCV000421097 RCV000487386 RCV000198789 RCV000785324 RCV001024600 RCV001271054 RCV003474953 RCV002288812 RCV004668846 RCV004725053

NM_000546.6(TP53):c.388C>T (p.Leu130Phe)

SNV
Germline

Chr17:7675224

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
not specified
Li-Fraumeni syndrome 1

Criteria Provided
Conflicting Classifications

CA339065

rs_863224683

6 SubmittersRCV000200055 RCV000571787 RCV002271460 RCV002288816

NM_000546.6(TP53):c.374C>A (p.Thr125Lys)

SNV
Germline

Chr17:7675995

Pathogenic

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA337257

rs_786201057

2 SubmittersRCV000197507 RCV003165469

NM_007194.4(CHEK2):c.593-1G>T

SNV
Germline

Chr22:28719486

Pathogenic/Likely pathogenic

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 2
Bone osteosarcoma
Familial cancer of breast
Colorectal cancer
Malignant tumor of prostate

Criteria Provided
Multiple Submitters
No Conflicts

CA336037

rs_786203229

9 SubmittersRCV000195929 RCV000566129 RCV002485316

NM_000546.6(TP53):c.700T>G (p.Tyr234Asp)

SNV
Germline

Chr17:7674263

Pathogenic/Likely pathogenic

Li-Fraumeni syndrome
Li-Fraumeni syndrome 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA348450

rs_864622237

3 SubmittersRCV000204217 RCV004020511 RCV000492197

NM_000546.6(TP53):c.380C>G (p.Ser127Cys)

SNV
Germline

Chr17:7675232

Pathogenic

Li-Fraumeni syndrome

Criteria Provided
Single Submitter

CA349567

rs_730881999

1 SubmittersRCV000205404

NM_000546.6(TP53):c.202G>T (p.Glu68Ter)

SNV
Germline

Chr17:7676167

Pathogenic

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA353535

rs_869312782

4 SubmittersRCV000210192 RCV001853361 RCV002288839

NM_000546.6(TP53):c.517G>A (p.Val173Met)

SNV
Germline/somatic

Chr17:7675095

Pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Li-Fraumeni syndrome
Lip and oral cavity carcinoma
Ovarian neoplasm
TP53-related disorder

Reviewed By Expert Panel

CA10577579

rs_876660754

9 SubmittersRCV000214341 RCV000223396 RCV000477355 RCV001255635 RCV000785308 RCV004797606

NM_000546.6(TP53):c.1115A>G (p.Lys372Arg)

SNV
Germline

Chr17:7669676

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
TP53-related disorder
Li-Fraumeni syndrome 1

Criteria Provided
Conflicting Classifications

CA10580901

rs_876658876

4 SubmittersRCV000217059 RCV003401139 RCV002288860

NM_000546.6(TP53):c.1101-1G>A

SNV
Germline

Chr17:7669691

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA10580902

rs_876658982

7 SubmittersRCV000222547 RCV000466199 RCV001252683 RCV001535521

NM_000546.6(TP53):c.1079G>A (p.Gly360Glu)

SNV
Germline

Chr17:7670630

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Condition: not provided
Li-Fraumeni syndrome 1

Criteria Provided
Conflicting Classifications

CA10580905

rs_35993958

6 SubmittersRCV000213880 RCV000541338 RCV001537143 RCV002288853

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

Criteria Provided
Conflicting Classifications

CA000790

rs_773553186

8 SubmittersRCV000219841 RCV000249541 RCV000463320 RCV001557066

NM_000546.6(TP53):c.994-1G>C

SNV
Germline

Chr17:7670716

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA10580906

rs_587782272

5 SubmittersRCV000221716 RCV000786812 RCV000804263 RCV002288878

NM_000546.6(TP53):c.976G>T (p.Glu326Ter)

SNV
Germline/somatic

Chr17:7673552

Pathogenic

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Ovarian neoplasm
Li-Fraumeni syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA10580908

rs_876659384

5 SubmittersRCV000218971 RCV000633385 RCV000785490 RCV002288871

NM_000546.6(TP53):c.930C>A (p.Asn310Lys)

SNV
Germline

Chr17:7673598

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Conflicting Classifications

CA10580910

rs_876660829

5 SubmittersRCV000221944 RCV000797410 RCV002288897

NM_000546.6(TP53):c.919+3A>G

SNV
Germline

Chr17:7673698

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome

Criteria Provided
Conflicting Classifications

CA10580911

rs_876659784

4 SubmittersRCV000216225 RCV001853589

NM_000546.6(TP53):c.908G>A (p.Ser303Asn)

SNV
Germline

Chr17:7673712

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Conflicting Classifications

CA10580912

rs_876658714

3 SubmittersRCV000218916 RCV000700080 RCV002288859

NM_000546.6(TP53):c.877G>A (p.Gly293Arg)

SNV
Germline

Chr17:7673743

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Conflicting Classifications

CA001422

rs_587780076

5 SubmittersRCV000219408 RCV001052713 RCV002288849

NM_000546.6(TP53):c.833C>T (p.Pro278Leu)

SNV
Germline/somatic

Chr17:7673787

Pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Ovarian neoplasm
Gallbladder cancer
Li-Fraumeni syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA10580915

rs_876659802

5 SubmittersRCV000214784 RCV001541668 RCV000785311 RCV001374441 RCV001042706

NM_000546.6(TP53):c.827C>A (p.Ala276Asp)

SNV
Germline/somatic

Chr17:7673793

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Li-Fraumeni syndrome 1
Li-Fraumeni syndrome
Neoplasm

Criteria Provided
Conflicting Classifications

CA10580916

rs_786202082

6 SubmittersRCV000223364 RCV000236401 RCV002288879 RCV002515676 RCV004668858

NM_000546.6(TP53):c.818G>C (p.Arg273Pro)

SNV
Germline/somatic

Chr17:7673802

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1
Ovarian neoplasm

Criteria Provided
Multiple Submitters
No Conflicts

CA10580917

rs_28934576

5 SubmittersRCV000222860 RCV000553607 RCV002288863 RCV000785460

NM_000546.6(TP53):c.815T>G (p.Val272Gly)

SNV
Germline

Chr17:7673805

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Conflicting Classifications

CA10580918

rs_876660333

3 SubmittersRCV000220536 RCV002515714 RCV004020685

NM_000546.6(TP53):c.797G>T (p.Gly266Val)

SNV
Germline

Chr17:7673823

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Conflicting Classifications

CA10580919

rs_193920774

3 SubmittersRCV000220597 RCV001854689 RCV002288888

NM_000546.6(TP53):c.764T>A (p.Ile255Asn)

SNV
Germline

Chr17:7674199

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10580923

rs_876659675

5 SubmittersRCV000221023 RCV000633370 RCV002288875 RCV004701291

NM_000546.6(TP53):c.743G>T (p.Arg248Leu)

SNV
Germline

Chr17:7674220

Pathogenic

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Adrenocortical carcinoma, hereditary
Li-Fraumeni syndrome 1

Reviewed By Expert Panel

CA10580924

rs_11540652

6 SubmittersRCV000219834 RCV000991149 RCV003475005 RCV004020650

NM_000546.6(TP53):c.715A>G (p.Asn239Asp)

SNV
Germline

Chr17:7674248

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Malignant tumor of breast
Adrenocortical carcinoma, hereditary
Li-Fraumeni syndrome 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10580926

rs_876660807

7 SubmittersRCV000223044 RCV000560536 RCV001355898 RCV003475037 RCV004020697 RCV003137828

NM_000546.6(TP53):c.638G>C (p.Arg213Pro)

SNV
Germline/somatic

Chr17:7674893

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
not specified
Li-Fraumeni syndrome 1
Li-Fraumeni syndrome
Neoplasm

Criteria Provided
Multiple Submitters
No Conflicts

CA10580932

rs_587778720

5 SubmittersRCV000220461 RCV000506128 RCV002288865 RCV002518297 RCV004668856

NM_000546.6(TP53):c.604C>G (p.Arg202Gly)

SNV
Germline

Chr17:7674927

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome

Criteria Provided
Conflicting Classifications

CA10580933

rs_587780072

3 SubmittersRCV000218191 RCV003509516

NM_000546.6(TP53):c.587G>C (p.Arg196Pro)

SNV
Germline

Chr17:7674944

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA10580934

rs_483352697

5 SubmittersRCV000216410 RCV003114386 RCV004020663

NM_000546.6(TP53):c.577C>T (p.His193Tyr)

SNV
Germline/somatic

Chr17:7674954

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1
Condition: not provided
Li-Fraumeni syndrome
Malignant tumor of urinary bladder

Criteria Provided
Multiple Submitters
No Conflicts

CA10580936

rs_876658468

6 SubmittersRCV000221478 RCV002288851 RCV000412758 RCV000809571 RCV003332145

NM_000546.6(TP53):c.569C>G (p.Pro190Arg)

SNV
Germline

Chr17:7674962

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Conflicting Classifications

CA10580937

rs_876660825

3 SubmittersRCV000222080 RCV001045782 RCV002288896

NM_000546.6(TP53):c.329G>C (p.Arg110Pro)

SNV
Germline

Chr17:7676040

Pathogenic/Likely pathogenic

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1
Familial cancer of breast
Adrenocortical carcinoma, hereditary

Criteria Provided
Multiple Submitters
No Conflicts

CA10580948

rs_11540654

6 SubmittersRCV000231991 RCV000222678 RCV002288889 RCV004698486 RCV003462528

NM_000546.6(TP53):c.273G>A (p.Trp91Ter)

SNV
Germline/somatic

Chr17:7676096

Pathogenic

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Condition: not provided
Ovarian neoplasm
Li-Fraumeni syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA10580953

rs_876660548

9 SubmittersRCV000220815 RCV000233967 RCV000657656 RCV000785284 RCV001028065

NM_000546.6(TP53):c.233C>G (p.Ala78Gly)

SNV
Germline

Chr17:7676136

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10580955

rs_876658527

7 SubmittersRCV000219512 RCV000552207 RCV002288854 RCV004998447

NM_000546.6(TP53):c.214C>A (p.Pro72Thr)

SNV
Germline

Chr17:7676155

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome

Criteria Provided
Conflicting Classifications

CA003071

rs_587782769

3 SubmittersRCV000223537 RCV001221060

NM_000546.6(TP53):c.158G>A (p.Trp53Ter)

SNV
Germline/somatic

Chr17:7676211

Pathogenic

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Ovarian neoplasm
Li-Fraumeni syndrome 1
Adrenocortical carcinoma, hereditary

Criteria Provided
Multiple Submitters
No Conflicts

CA10580959

rs_876658483

6 SubmittersRCV000222677 RCV000693351 RCV000785314 RCV002288852 RCV003475007

NM_000546.6(TP53):c.146A>G (p.Asp49Gly)

SNV
Germline

Chr17:7676223

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome

Criteria Provided
Conflicting Classifications

CA003170

rs_759728549

3 SubmittersRCV000219898 RCV000702036

NM_000546.6(TP53):c.14A>G (p.Gln5Arg)

SNV
Germline

Chr17:7676581

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Condition: not provided
Li-Fraumeni syndrome 1

Criteria Provided
Conflicting Classifications

CA003990

rs_781595324

6 SubmittersRCV000220312 RCV000550564 RCV001575870 RCV002288887

NM_000546.6(TP53):c.1100+8A>G

SNV
Germline

Chr17:7670601

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
not specified
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10583673

rs_878854062

4 SubmittersRCV000229362 RCV000437181 RCV000580314

NM_000546.6(TP53):c.845G>A (p.Arg282Gln)

SNV
Germline

Chr17:7673775

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
not specified
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1
Condition: not provided
Adrenocortical carcinoma, hereditary
Hereditary breast ovarian cancer syndrome
Malignant tumor of breast

Criteria Provided
Conflicting Classifications

CA10575441

rs_730882008

13 SubmittersRCV000226273 RCV000235474 RCV000492420 RCV000709768 RCV000767028 RCV003463657 RCV003483584 RCV001357626

NM_000546.6(TP53):c.743G>C (p.Arg248Pro)

SNV
Germline

Chr17:7674220

Pathogenic/Likely pathogenic

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA10583676

rs_11540652

3 SubmittersRCV000229442 RCV002378977 RCV004020765

NM_000546.6(TP53):c.673-1G>T

SNV
Germline/somatic

Chr17:7674291

Pathogenic

Li-Fraumeni syndrome
Condition: not provided

Criteria Provided
Single Submitter

CA10583677

rs_878854073

2 SubmittersRCV000228996 RCV001610535

NM_000546.6(TP53):c.652G>A (p.Val218Met)

SNV
Germline

Chr17:7674879

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10583679

rs_878854072

4 SubmittersRCV000228072 RCV001357802 RCV002256136

NM_000546.6(TP53):c.375G>T (p.Thr125=)

SNV
Germline

Chr17:7675994

Pathogenic/Likely pathogenic

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Li-Fraumeni syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA10575452

rs_55863639

4 SubmittersRCV000229813 RCV002347868 RCV000786841 RCV004020764

NM_000546.6(TP53):c.97-4A>T

SNV
Germline

Chr17:7676276

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA003276

rs_746791390

4 SubmittersRCV000229785 RCV000563713 RCV001682937

NM_000546.6(TP53):c.38C>T (p.Pro13Leu)

SNV
Germline

Chr17:7676557

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1
Adrenocortical carcinoma, hereditary

Criteria Provided
Conflicting Classifications

CA10583685

rs_878854070

5 SubmittersRCV000226793 RCV001021387 RCV002288916 RCV003469151

NM_007194.4(CHEK2):c.683+1G>A

SNV
Germline/somatic

Chr22:28719394

Likely pathogenic

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 2
Neoplasm

Criteria Provided
Multiple Submitters
No Conflicts

CA10583911

rs_786203650

6 SubmittersRCV000229878 RCV000571803 RCV003333745 RCV004668868

NM_000546.6(TP53):c.794T>C (p.Leu265Pro)

SNV
Germline

Chr17:7673826

Pathogenic/Likely pathogenic

Condition: not provided
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1
Hereditary cancer-predisposing syndrome
Rhabdomyosarcoma

Criteria Provided
Multiple Submitters
No Conflicts

CA10584586

rs_879253942

7 SubmittersRCV000235981 RCV000554509 RCV000662855 RCV000564617 RCV001257518

NM_000546.6(TP53):c.698A>G (p.His233Arg)

SNV
Germline

Chr17:7674265

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1
Li-Fraumeni syndrome

Criteria Provided
Conflicting Classifications

CA10584588

rs_879254233

4 SubmittersRCV000235730 RCV000569303 RCV002288936 RCV001302749

NM_000546.6(TP53):c.655C>T (p.Pro219Ser)

SNV
Germline

Chr17:7674876

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1
Li-Fraumeni syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10584589

rs_879253894

5 SubmittersRCV000492115 RCV000576805 RCV001065230 RCV001705300

NM_000546.6(TP53):c.538G>A (p.Glu180Lys)

SNV
Germline

Chr17:7675074

Likely pathogenic

Condition: not provided
Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
TP53-related disorder

Reviewed By Expert Panel

CA10584590

rs_879253911

5 SubmittersRCV000235571 RCV000544036 RCV000492319 RCV004797607

NM_000546.6(TP53):c.490A>G (p.Lys164Glu)

SNV
Germline

Chr17:7675122

Conflicting classifications of pathogenicity

Condition: not provided
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10584591

rs_879254249

4 SubmittersRCV000235745 RCV000541487 RCV002288937 RCV002288938

NM_000546.6(TP53):c.473G>C (p.Arg158Pro)

SNV
Germline

Chr17:7675139

Pathogenic/Likely pathogenic

Condition: not provided
Li-Fraumeni syndrome
Squamous cell carcinoma of the head and neck
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA10584592

rs_587782144

6 SubmittersRCV000236862 RCV000548853 RCV000989719 RCV002288932 RCV002288931

NM_000546.6(TP53):c.559+8G>A

SNV
Germline

Chr17:7675045

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Li-Fraumeni syndrome

Criteria Provided
Conflicting Classifications

CA002364

rs_775915220

5 SubmittersRCV000253181 RCV000726139 RCV001078796

NM_000546.6(TP53):c.734G>C (p.Gly245Ala)

SNV
Germline/somatic

Chr17:7674229

Conflicting classifications of pathogenicity

Condition: not provided
Li-Fraumeni syndrome
Adrenocortical carcinoma, hereditary
Hereditary cancer-predisposing syndrome
Adrenal cortex carcinoma

Criteria Provided
Conflicting Classifications

CA10588670

rs_121912656

5 SubmittersRCV000255018 RCV003509522 RCV004567808 RCV002379095 RCV003995742

NM_000546.6(TP53):c.643A>G (p.Ser215Gly)

SNV
Germline

Chr17:7674888

Conflicting classifications of pathogenicity

Condition: not provided
Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Ovarian neoplasm
not specified
Li-Fraumeni syndrome 1

Criteria Provided
Conflicting Classifications

CA10588671

rs_886039484

8 SubmittersRCV000255449 RCV000700891 RCV000772138 RCV000785239 RCV002282093 RCV004021028

NM_000546.6(TP53):c.376T>G (p.Tyr126Asp)

SNV
Germline/somatic

Chr17:7675236

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Ovarian neoplasm
Li-Fraumeni syndrome 1

Criteria Provided
Conflicting Classifications

CA10588672

rs_886039483

5 SubmittersRCV000255685 RCV000568595 RCV000705124 RCV000785482 RCV004021027

NM_000546.6(TP53):c.673-37C>T

SNV
Germline

Chr17:7674327

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome 1
not specified
Condition: not provided
Hereditary cancer-predisposing syndrome
TP53-related disorder

Criteria Provided
Conflicting Classifications

CA001891

rs_374907737

6 SubmittersRCV000409763 RCV001796970 RCV001810875 RCV002288981 RCV003892009

NM_000546.6(TP53):c.74+9A>C

SNV
Germline

Chr17:7676512

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome 1
Li-Fraumeni syndrome
Breast and/or ovarian cancer

Criteria Provided
Conflicting Classifications

CA16042179

rs_1057517593

5 SubmittersRCV000410984 RCV000469570 RCV003150194

NM_000546.6(TP53):c.731G>A (p.Gly244Asp)

SNV
Germline/somatic

Chr17:7674232

Pathogenic/Likely pathogenic

Condition: not provided
Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Ovarian neoplasm
Li-Fraumeni syndrome 1
Gastric cancer
Neoplasm

Criteria Provided
Multiple Submitters
No Conflicts

CA16043048

rs_985033810

10 SubmittersRCV000413969 RCV000477083 RCV000561866 RCV000785537 RCV002288986 RCV003168599 RCV004668915

NM_000546.6(TP53):c.746G>C (p.Arg249Thr)

SNV
Germline

Chr17:7674217

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16602484

rs_587782329

3 SubmittersRCV001311109 RCV002392945 RCV004022197

NM_000546.6(TP53):c.518T>G (p.Val173Gly)

SNV
Germline

Chr17:7675094

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Adrenocortical carcinoma, hereditary

Criteria Provided
Conflicting Classifications

CA16602485

rs_1057519747

2 SubmittersRCV000807434 RCV003463825

NM_000546.6(TP53):c.518T>C (p.Val173Ala)

SNV
Germline

Chr17:7675094

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16602486

rs_1057519747

4 SubmittersRCV000775880 RCV001237773 RCV002289516

NM_000546.6(TP53):c.404G>T (p.Cys135Phe)

SNV
Germline/somatic

Chr17:7675208

Pathogenic/Likely pathogenic

Adrenal cortex carcinoma
Li-Fraumeni syndrome 1
Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA16602985

rs_587781991

4 SubmittersRCV000425788 RCV004022199 RCV001203469 RCV000492398

NM_000546.6(TP53):c.403T>C (p.Cys135Arg)

SNV
Germline

Chr17:7675209

Pathogenic/Likely pathogenic

Li-Fraumeni syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16602986

rs_1057519975

2 SubmittersRCV001383908 RCV004022200

NM_000546.6(TP53):c.405C>G (p.Cys135Trp)

SNV
Germline

Chr17:7675207

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Conflicting Classifications

CA16602987

rs_1057519976

4 SubmittersRCV000556410 RCV000479510 RCV002289519 RCV002289518

NM_000546.6(TP53):c.403T>G (p.Cys135Gly)

SNV
Germline/somatic

Chr17:7675209

Pathogenic

Ovarian neoplasm
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1

Reviewed By Expert Panel

CA16602989

rs_1057519975

4 SubmittersRCV000785515 RCV000570655 RCV000991142 RCV004022201

NM_000546.6(TP53):c.423C>G (p.Cys141Trp)

SNV
Germline

Chr17:7675189

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA16602990

rs_1057519977

2 SubmittersRCV000492201 RCV000467641

NM_000546.6(TP53):c.421T>C (p.Cys141Arg)

SNV
Germline

Chr17:7675191

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA16602991

rs_1057519978

2 SubmittersRCV001861481 RCV002328907

NM_000546.6(TP53):c.422G>T (p.Cys141Phe)

SNV
Germline/somatic

Chr17:7675190

Conflicting classifications of pathogenicity

Squamous cell carcinoma of the head and neck
Li-Fraumeni syndrome

Criteria Provided
Conflicting Classifications

CA16602994

rs_587781288

2 SubmittersRCV000435499 RCV001214540

NM_000546.6(TP53):c.527G>T (p.Cys176Phe)

SNV
Germline

Chr17:7675085

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16602995

rs_786202962

3 SubmittersRCV002348142 RCV001244047 RCV004022202

NM_000546.6(TP53):c.526T>A (p.Cys176Ser)

SNV
Germline

Chr17:7675086

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Conflicting Classifications

CA16602996

rs_967461896

4 SubmittersRCV000492644 RCV001352918 RCV001060393 RCV004022203

NM_000546.6(TP53):c.526T>G (p.Cys176Gly)

SNV
Germline/somatic

Chr17:7675086

Conflicting classifications of pathogenicity

Ovarian neoplasm
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Conflicting Classifications

CA16602997

rs_967461896

4 SubmittersRCV000785535 RCV001023834 RCV003621529 RCV004022204

NM_000546.6(TP53):c.528C>G (p.Cys176Trp)

SNV
Germline/somatic

Chr17:7675084

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Ovarian neoplasm
TP53-related disorder
Li-Fraumeni syndrome 1

Criteria Provided
Conflicting Classifications

CA16602998

rs_1057519980

7 SubmittersRCV000530055 RCV000567103 RCV000785243 RCV003401413 RCV004022205

NM_000546.6(TP53):c.526T>C (p.Cys176Arg)

SNV
Germline/somatic

Chr17:7675086

Conflicting classifications of pathogenicity

Breast neoplasm
Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Ovarian neoplasm
Li-Fraumeni syndrome 1

Criteria Provided
Conflicting Classifications

CA16602999

rs_967461896

5 SubmittersRCV000421755 RCV001044520 RCV001023833 RCV000785469 RCV004022206

NM_000546.6(TP53):c.713G>T (p.Cys238Phe)

SNV
Germline

Chr17:7674250

Pathogenic/Likely pathogenic

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16603000

rs_730882005

4 SubmittersRCV000473420 RCV002365459 RCV004022207

NM_000546.6(TP53):c.713G>C (p.Cys238Ser)

SNV
Germline

Chr17:7674250

Pathogenic/Likely pathogenic

Li-Fraumeni syndrome
Li-Fraumeni syndrome 1
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA16603001

rs_730882005

6 SubmittersRCV001067780 RCV001523834 RCV001551247 RCV002289520

NM_000546.6(TP53):c.712T>C (p.Cys238Arg)

SNV
Germline

Chr17:7674251

Pathogenic/Likely pathogenic

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16603002

rs_1057519981

4 SubmittersRCV000812726 RCV000492666 RCV002289521

NM_000546.6(TP53):c.712T>G (p.Cys238Gly)

SNV
Germline/somatic

Chr17:7674251

Pathogenic

Ovarian neoplasm
Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA16603003

rs_1057519981

3 SubmittersRCV000785550 RCV001390630 RCV002365460

NM_000546.6(TP53):c.725G>T (p.Cys242Phe)

SNV
Germline/somatic

Chr17:7674238

Conflicting classifications of pathogenicity

Ovarian neoplasm
Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Neoplasm

Criteria Provided
Conflicting Classifications

CA501203

rs_121912655

4 SubmittersRCV000785473 RCV000688366 RCV002379285 RCV004668951

NM_000546.6(TP53):c.724T>A (p.Cys242Ser)

SNV
Germline

Chr17:7674239

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome 1
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome

Criteria Provided
Conflicting Classifications

CA16603004

rs_1057519982

4 SubmittersRCV000662594 RCV001026200 RCV001325155

NM_000546.6(TP53):c.726C>G (p.Cys242Trp)

SNV
Germline

Chr17:7674237

Pathogenic

Li-Fraumeni syndrome

Criteria Provided
Single Submitter

CA16603005

rs_375874539

1 SubmittersRCV003621530

NM_000546.6(TP53):c.724T>G (p.Cys242Gly)

SNV
Germline

Chr17:7674239

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA501041

rs_1057519982

2 SubmittersRCV000461418 RCV004791444

NM_000546.6(TP53):c.824G>T (p.Cys275Phe)

SNV
Germline/somatic

Chr17:7673796

Pathogenic

Ovarian neoplasm
Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA16603006

rs_863224451

3 SubmittersRCV000785323 RCV001861482 RCV004948279

NM_000546.6(TP53):c.824G>C (p.Cys275Ser)

SNV
Germline

Chr17:7673796

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome

Criteria Provided
Conflicting Classifications

CA16603007

rs_863224451

3 SubmittersRCV000580293 RCV002521506

NM_000546.6(TP53):c.823T>C (p.Cys275Arg)

SNV
Germline

Chr17:7673797

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1
Li-Fraumeni syndrome

Criteria Provided
Conflicting Classifications

CA16603008

rs_1057519983

3 SubmittersRCV001183954 RCV004022208 RCV002521507

NM_000546.6(TP53):c.841G>T (p.Asp281Tyr)

SNV
Germline/somatic

Chr17:7673779

Pathogenic/Likely pathogenic

Li-Fraumeni syndrome
Neoplasm
Li-Fraumeni syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16603009

rs_764146326

3 SubmittersRCV000792342 RCV004668952 RCV004022209

NM_000546.6(TP53):c.841G>A (p.Asp281Asn)

SNV
Germline/somatic

Chr17:7673779

Pathogenic/Likely pathogenic

Li-Fraumeni syndrome
Ovarian neoplasm
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA001503

rs_764146326

4 SubmittersRCV000824609 RCV000785452 RCV002446642

NM_000546.6(TP53):c.843C>G (p.Asp281Glu)

SNV
Germline/somatic

Chr17:7673777

Conflicting classifications of pathogenicity

Ovarian neoplasm
Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10590135

rs_1057519984

3 SubmittersRCV000785286 RCV000633352 RCV002446643

NM_000546.6(TP53):c.841G>C (p.Asp281His)

SNV
Germline/somatic

Chr17:7673779

Pathogenic/Likely pathogenic

Gallbladder cancer
Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16603010

rs_764146326

4 SubmittersRCV001292542 RCV001306199 RCV002446644 RCV004022210

NM_000546.6(TP53):c.856G>C (p.Glu286Gln)

SNV
Germline/somatic

Chr17:7673764

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome 1
Li-Fraumeni syndrome
Neoplasm

Criteria Provided
Conflicting Classifications

CA16603013

rs_786201059

3 SubmittersRCV004022211 RCV001048274 RCV004668953

NM_000546.6(TP53):c.857A>C (p.Glu286Ala)

SNV
Unknown

Chr17:7673763

Likely pathogenic

Li-Fraumeni syndrome 1

Criteria Provided
Single Submitter

CA16603015

rs_1057519985

1 SubmittersRCV004022212

NM_000546.6(TP53):c.809T>C (p.Phe270Ser)

SNV
Germline

Chr17:7673811

Pathogenic/Likely pathogenic

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Li-Fraumeni syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16603016

rs_1057519986

4 SubmittersRCV000824076 RCV002289523 RCV000481465 RCV002289522

NM_000546.6(TP53):c.808T>A (p.Phe270Ile)

SNV
Germline/somatic

Chr17:7673812

Conflicting classifications of pathogenicity

Ovarian neoplasm
Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA16603018

rs_1057519988

3 SubmittersRCV000785257 RCV001362325 RCV002418243

NM_000546.6(TP53):c.809T>G (p.Phe270Cys)

SNV
Germline

Chr17:7673811

Conflicting classifications of pathogenicity

Adrenocortical carcinoma, hereditary
Condition: not provided
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Conflicting Classifications

CA16603019

rs_1057519986

5 SubmittersRCV003470375 RCV002508212 RCV001805037 RCV002524696 RCV004022213

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

Criteria Provided
Conflicting Classifications

CA16603021

rs_1057519989

4 SubmittersRCV000538079 RCV001270273 RCV001567979 RCV002379286

NM_000546.6(TP53):c.730G>A (p.Gly244Ser)

SNV
Germline/somatic

Chr17:7674233

Pathogenic

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Rhabdomyosarcoma
Li-Fraumeni syndrome 1
Gastric cancer
Malignant tumor of urinary bladder
Adrenocortical carcinoma, hereditary
Neoplasm

Criteria Provided
Multiple Submitters
No Conflicts

CA16603022

rs_1057519989

9 SubmittersRCV000492366 RCV000633372 RCV001257520 RCV002289524 RCV003168616 RCV003332172 RCV003476007 RCV004668954

NM_000546.6(TP53):c.731G>T (p.Gly244Val)

SNV
Somatic

Chr17:7674232

Likely pathogenic

Ovarian neoplasm
Li-Fraumeni syndrome 1

Criteria Provided
Single Submitter

CA16603023

rs_985033810

2 SubmittersRCV000785338 RCV004022214

NM_000546.6(TP53):c.734G>T (p.Gly245Val)

SNV
Germline/somatic

Chr17:7674229

Pathogenic

Adrenocortical carcinoma, hereditary
Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Neoplasm
Li-Fraumeni syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA001743

rs_121912656

6 SubmittersRCV003476008 RCV000558455 RCV001026313 RCV001548147 RCV004668955 RCV002289525

NM_000546.6(TP53):c.733G>C (p.Gly245Arg)

SNV
Germline

Chr17:7674230

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Conflicting Classifications

CA16603025

rs_28934575

3 SubmittersRCV000633351 RCV001026295 RCV004022215

NM_000546.6(TP53):c.796G>C (p.Gly266Arg)

SNV
Germline

Chr17:7673824

Pathogenic

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16603026

rs_1057519990

3 SubmittersRCV001027017 RCV000803659 RCV002289526

NM_000546.6(TP53):c.536A>G (p.His179Arg)

SNV
Germline/somatic

Chr17:7675076

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Ovarian neoplasm
Hereditary cancer-predisposing syndrome
Condition: not provided
TP53-related disorder
Li-Fraumeni syndrome 1

Criteria Provided
Conflicting Classifications

CA16603027

rs_1057519991

9 SubmittersRCV000529132 RCV000785555 RCV001023983 RCV001591055 RCV003983035 RCV004022216

NM_000546.6(TP53):c.537T>G (p.His179Gln)

SNV
Germline

Chr17:7675075

Pathogenic/Likely pathogenic

Li-Fraumeni syndrome
Condition: not provided
Li-Fraumeni syndrome 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA16603028

rs_876660821

6 SubmittersRCV000815181 RCV002264935 RCV002289527 RCV001293868

NM_000546.6(TP53):c.536A>T (p.His179Leu)

SNV
Germline

Chr17:7675076

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Adrenocortical carcinoma, hereditary
Condition: not provided
Li-Fraumeni syndrome 1

Criteria Provided
Conflicting Classifications

CA16603029

rs_1057519991

5 SubmittersRCV002348143 RCV000705316 RCV003476009 RCV004721352 RCV004022217

NM_000546.6(TP53):c.535C>A (p.His179Asn)

SNV
Germline

Chr17:7675077

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Condition: not provided
Li-Fraumeni syndrome 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA16603030

rs_587780070

4 SubmittersRCV000695193 RCV001575036 RCV004022218 RCV000564826

NM_000546.6(TP53):c.535C>G (p.His179Asp)

SNV
Germline

Chr17:7675077

Pathogenic/Likely pathogenic

not specified
Li-Fraumeni syndrome 1
Hereditary cancer-predisposing syndrome
Adrenocortical carcinoma, hereditary
Li-Fraumeni syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA16603031

rs_587780070

5 SubmittersRCV002465649 RCV003335320 RCV002348144 RCV003470376 RCV001851020

NM_000546.6(TP53):c.536A>C (p.His179Pro)

SNV
Germline

Chr17:7675076

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome

Criteria Provided
Conflicting Classifications

CA16603032

rs_1057519991

2 SubmittersRCV001023982 RCV001861483

NM_000546.6(TP53):c.578A>C (p.His193Pro)

SNV
Germline

Chr17:7674953

Pathogenic

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA16603033

rs_786201838

4 SubmittersRCV000991151 RCV001525967

NM_000546.6(TP53):c.577C>G (p.His193Asp)

SNV
Germline

Chr17:7674954

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome 1
Li-Fraumeni syndrome

Criteria Provided
Conflicting Classifications

CA16603034

rs_876658468

2 SubmittersRCV004022219 RCV003509527

NM_000546.6(TP53):c.641A>G (p.His214Arg)

SNV
Germline

Chr17:7674890

Pathogenic

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Li-Fraumeni syndrome 1

Reviewed By Expert Panel

CA16040595

rs_1057519992

9 SubmittersRCV000477234 RCV000492372 RCV001584113 RCV004022220

NM_000546.6(TP53):c.583A>T (p.Ile195Phe)

SNV
Germline/somatic

Chr17:7674948

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Condition: not provided
Malignant tumor of esophagus
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA16603037

rs_942158624

4 SubmittersRCV001345722 RCV003329275 RCV001270271 RCV002356515

NM_000546.6(TP53):c.584T>A (p.Ile195Asn)

SNV
Germline/somatic

Chr17:7674947

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Ovarian neoplasm
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Conflicting Classifications

CA16603038

rs_760043106

4 SubmittersRCV000692717 RCV000785514 RCV001024599 RCV002289528

NM_000546.6(TP53):c.584T>G (p.Ile195Ser)

SNV
Germline

Chr17:7674947

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Conflicting Classifications

CA16603039

rs_760043106

2 SubmittersRCV001184465 RCV004022221

NM_000546.6(TP53):c.763A>T (p.Ile255Phe)

SNV
Germline/somatic

Chr17:7674200

Conflicting classifications of pathogenicity

Ovarian neoplasm
Li-Fraumeni syndrome 1
Neoplasm
Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA16603041

rs_1057519995

5 SubmittersRCV000785451 RCV004022222 RCV004668956 RCV001301950 RCV002392946

NM_000546.6(TP53):c.396G>C (p.Lys132Asn)

SNV
Germline

Chr17:7675216

Likely pathogenic

Squamous cell carcinoma of the head and neck
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1
Condition: not provided

Reviewed By Expert Panel

CA16603044

rs_866775781

5 SubmittersRCV000424592 RCV000709407 RCV004022223 RCV004719814

NM_000546.6(TP53):c.395A>G (p.Lys132Arg)

SNV
Germline/somatic

Chr17:7675217

Pathogenic/Likely pathogenic

Li-Fraumeni syndrome
Ovarian neoplasm
Li-Fraumeni syndrome 1
TP53-related disorder
Hereditary cancer-predisposing syndrome
Neoplasm

Criteria Provided
Multiple Submitters
No Conflicts

CA16603045

rs_1057519996

7 SubmittersRCV000471183 RCV000785521 RCV004022224 RCV004797608 RCV002356517 RCV004668957

NM_000546.6(TP53):c.394A>G (p.Lys132Glu)

SNV
Germline

Chr17:7675218

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA002647

rs_747342068

6 SubmittersRCV000468362 RCV000562533 RCV001253548 RCV004017609

NM_000546.6(TP53):c.395A>C (p.Lys132Thr)

SNV
Germline

Chr17:7675217

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA16603046

rs_1057519996

2 SubmittersRCV003621532 RCV004022225

NM_000546.6(TP53):c.394A>C (p.Lys132Gln)

SNV
Germline

Chr17:7675218

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Adrenocortical carcinoma, hereditary
Li-Fraumeni syndrome 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA16603047

rs_747342068

4 SubmittersRCV001205860 RCV003463827 RCV004022226 RCV004678695

NM_000546.6(TP53):c.395A>T (p.Lys132Met)

SNV
Germline/somatic

Chr17:7675217

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Neoplasm

Criteria Provided
Conflicting Classifications

CA16603048

rs_1057519996

3 SubmittersRCV004678696 RCV000546420 RCV004668958

NM_000546.6(TP53):c.332T>C (p.Leu111Pro)

SNV
Germline/somatic

Chr17:7676037

Conflicting classifications of pathogenicity

Condition: not provided
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1
Ovarian neoplasm
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA16603049

rs_1057519997

5 SubmittersRCV000480700 RCV000459042 RCV004022227 RCV000785496 RCV004791445

NM_000546.6(TP53):c.332T>A (p.Leu111Gln)

SNV
Germline

Chr17:7676037

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Conflicting Classifications

CA16603051

rs_1057519997

2 SubmittersRCV001041362 RCV004022228

NM_000546.6(TP53):c.581T>G (p.Leu194Arg)

SNV
Germline/somatic

Chr17:7674950

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Ovarian neoplasm
Colorectal cancer
Li-Fraumeni syndrome 1
Hereditary breast ovarian cancer syndrome
TP53-related disorder

Criteria Provided
Conflicting Classifications

CA16044097

rs_1057519998

6 SubmittersRCV000535418 RCV000561306 RCV000785551 RCV001270270 RCV004022229 RCV004764786 RCV004797609

NM_000546.6(TP53):c.581T>A (p.Leu194His)

SNV
Germline/somatic

Chr17:7674950

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Ovarian neoplasm
Li-Fraumeni syndrome 1

Criteria Provided
Conflicting Classifications

CA16603052

rs_1057519998

4 SubmittersRCV000565549 RCV001376885 RCV000785543 RCV004022230

NM_000546.6(TP53):c.710T>A (p.Met237Lys)

SNV
Germline/somatic

Chr17:7674253

Pathogenic/Likely pathogenic

Li-Fraumeni syndrome
Acute myeloid leukemia
Li-Fraumeni syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA001811

rs_765848205

3 SubmittersRCV002524697 RCV002509381 RCV004022231

NM_000546.6(TP53):c.716A>G (p.Asn239Ser)

SNV
Germline

Chr17:7674247

Likely pathogenic

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1
Condition: not provided
Li-Fraumeni syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA16603054

rs_1057519999

5 SubmittersRCV000567507 RCV002289529 RCV002510885 RCV001851021

NM_000546.6(TP53):c.716A>C (p.Asn239Thr)

SNV
Germline

Chr17:7674247

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA16603055

rs_1057519999

2 SubmittersRCV000633336 RCV002374626

NM_000546.6(TP53):c.452C>G (p.Pro151Arg)

SNV
Germline

Chr17:7675160

Pathogenic/Likely pathogenic

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16603057

rs_1057520000

4 SubmittersRCV000633382 RCV003168617 RCV004022232

NM_000546.6(TP53):c.451C>G (p.Pro151Ala)

SNV
Germline

Chr17:7675161

Pathogenic

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA16603058

rs_28934874

2 SubmittersRCV000459465 RCV002338981

NM_000546.6(TP53):c.832C>T (p.Pro278Ser)

SNV
Germline/somatic

Chr17:7673788

Pathogenic/Likely pathogenic

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Ovarian neoplasm
TP53-related disorder
Li-Fraumeni syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16603059

rs_17849781

7 SubmittersRCV000633344 RCV000562528 RCV000522600 RCV000785527 RCV004797610 RCV004022233

NM_000546.6(TP53):c.832C>A (p.Pro278Thr)

SNV
Germline/somatic

Chr17:7673788

Pathogenic/Likely pathogenic

Li-Fraumeni syndrome 1
Poly (ADP-Ribose) polymerase inhibitor response
Ovarian neoplasm
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA16603060

rs_17849781

5 SubmittersRCV004022234 RCV000626445 RCV000785511 RCV002429348 RCV002524698

NM_000546.6(TP53):c.833C>G (p.Pro278Arg)

SNV
Germline/somatic

Chr17:7673787

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Condition: not provided
Ovarian neoplasm
Li-Fraumeni syndrome 1

Criteria Provided
Conflicting Classifications

CA16603061

rs_876659802

6 SubmittersRCV000572417 RCV000797363 RCV000681956 RCV000785498 RCV002289530

NM_000546.6(TP53):c.832C>G (p.Pro278Ala)

SNV
Germline/somatic

Chr17:7673788

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Ovarian neoplasm
Li-Fraumeni syndrome 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA16603062

rs_17849781

5 SubmittersRCV000567850 RCV000688854 RCV000785477 RCV004022235 RCV001584114

NM_000546.6(TP53):c.833C>A (p.Pro278His)

SNV
Germline

Chr17:7673787

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1
Adrenocortical carcinoma, hereditary

Criteria Provided
Conflicting Classifications

CA16603063

rs_876659802

5 SubmittersRCV000633329 RCV001017582 RCV002289531 RCV004567903

NM_000546.6(TP53):c.523C>G (p.Arg175Gly)

SNV
Germline/somatic

Chr17:7675089

Pathogenic

Li-Fraumeni syndrome
Neoplasm
Hereditary cancer-predisposing syndrome
Ovarian neoplasm
Li-Fraumeni syndrome 1
Condition: not provided

Reviewed By Expert Panel

CA16603066

rs_138729528

10 SubmittersRCV000459914 RCV004668959 RCV000573315 RCV000785486 RCV002289532 RCV001584115

NM_000546.6(TP53):c.638G>T (p.Arg213Leu)

SNV
Germline

Chr17:7674893

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Li-Fraumeni syndrome 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA16603067

rs_587778720

3 SubmittersRCV001371092 RCV004022236 RCV004948280

NM_000546.6(TP53):c.637C>G (p.Arg213Gly)

SNV
Germline

Chr17:7674894

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1
Li-Fraumeni syndrome

Criteria Provided
Conflicting Classifications

CA16603068

rs_397516436

3 SubmittersRCV002356518 RCV004022237 RCV002524699

NM_000546.6(TP53):c.742C>G (p.Arg248Gly)

SNV
Germline

Chr17:7674221

Pathogenic/Likely pathogenic

Carcinoma of colon
Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16603069

rs_121912651

4 SubmittersRCV000626118 RCV000633396 RCV001026425 RCV004022238

NM_000546.6(TP53):c.746G>T (p.Arg249Met)

SNV
Germline/somatic

Chr17:7674217

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Ovarian neoplasm
Li-Fraumeni syndrome 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA16603070

rs_587782329

5 SubmittersRCV000690948 RCV000782360 RCV004022239 RCV004948281

NM_000546.6(TP53):c.745A>G (p.Arg249Gly)

SNV
Germline/somatic

Chr17:7674218

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Condition: not provided
Ovarian neoplasm
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Conflicting Classifications

CA16603071

rs_587782082

6 SubmittersRCV000467567 RCV000581522 RCV000785305 RCV001026460 RCV002289533

NM_000546.6(TP53):c.818G>T (p.Arg273Leu)

SNV
Germline/somatic

Chr17:7673802

Pathogenic

Hereditary cancer-predisposing syndrome
Ovarian neoplasm
Li-Fraumeni syndrome
Condition: not provided
Li-Fraumeni syndrome 1
12 conditions
Neoplasm
Neuroendocrine pancreatic tumor

Criteria Provided
Multiple Submitters
No Conflicts

CA001530

rs_28934576

9 SubmittersRCV000568814 RCV000785524 RCV000822080 RCV001539823 RCV002289534 RCV002502455 RCV004668960 RCV004813095

NM_000546.6(TP53):c.817C>A (p.Arg273Ser)

SNV
Germline

Chr17:7673803

Pathogenic

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA001542

rs_121913343

4 SubmittersRCV000698744 RCV000561782 RCV002289535

NM_000546.6(TP53):c.839G>A (p.Arg280Lys)

SNV
Germline

Chr17:7673781

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Squamous cell carcinoma of the head and neck
Li-Fraumeni syndrome

Criteria Provided
Conflicting Classifications

CA16603072

rs_121912660

3 SubmittersRCV000492483 RCV000423448 RCV000633356

NM_000546.6(TP53):c.838A>G (p.Arg280Gly)

SNV
Germline/somatic

Chr17:7673782

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Ovarian neoplasm
Adrenocortical carcinoma, hereditary
Li-Fraumeni syndrome 1

Criteria Provided
Conflicting Classifications

CA16603073

rs_753660142

6 SubmittersRCV000568150 RCV000706131 RCV000785300 RCV003476010 RCV004022240

NM_000546.6(TP53):c.845G>C (p.Arg282Pro)

SNV
Germline

Chr17:7673775

Pathogenic/Likely pathogenic

Squamous cell carcinoma of the head and neck
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1
12 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA16603074

rs_730882008

7 SubmittersRCV000442220 RCV000492764 RCV000709402 RCV002289536 RCV002502456

NM_000546.6(TP53):c.644G>T (p.Ser215Ile)

SNV
Germline/somatic

Chr17:7674887

Conflicting classifications of pathogenicity

Ovarian neoplasm
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome

Criteria Provided
Conflicting Classifications

CA16603075

rs_587782177

3 SubmittersRCV000785347 RCV001025280 RCV003509529

NM_000546.6(TP53):c.645T>G (p.Ser215Arg)

SNV
Germline/somatic

Chr17:7674886

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Li-Fraumeni syndrome 1
Ovarian neoplasm
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA16603076

rs_1057520001

6 SubmittersRCV000465501 RCV000662560 RCV000785463 RCV002289537 RCV004786685

NM_000546.6(TP53):c.644G>A (p.Ser215Asn)

SNV
Germline

Chr17:7674887

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Adrenocortical carcinoma, hereditary
Li-Fraumeni syndrome 1

Criteria Provided
Conflicting Classifications

CA16603077

rs_587782177

4 SubmittersRCV000816006 RCV000492171 RCV003476011 RCV004022241

NM_000546.6(TP53):c.722C>A (p.Ser241Tyr)

SNV
Germline/somatic

Chr17:7674241

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Ovarian neoplasm
Li-Fraumeni syndrome
Condition: not provided
Neoplasm
Li-Fraumeni syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16603078

rs_28934573

6 SubmittersRCV002289539 RCV000785454 RCV001053974 RCV001576591 RCV004668961 RCV002289538

NM_000546.6(TP53):c.721T>G (p.Ser241Ala)

SNV
Germline

Chr17:7674242

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Conflicting Classifications

CA16603080

rs_1057520002

4 SubmittersRCV001045859 RCV002374627 RCV004022242

NM_000546.6(TP53):c.373A>C (p.Thr125Pro)

SNV
Germline

Chr17:7675996

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Conflicting Classifications

CA16603081

rs_1057520003

3 SubmittersRCV001041773 RCV004022244 RCV004022243

NM_000546.6(TP53):c.374C>G (p.Thr125Arg)

SNV
Germline/somatic

Chr17:7675995

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1
Condition: not provided
Neoplasm

Criteria Provided
Multiple Submitters
No Conflicts

CA16044089

rs_786201057

8 SubmittersRCV000492090 RCV000524926 RCV002289540 RCV004719815 RCV004668962

NM_000546.6(TP53):c.517G>T (p.Val173Leu)

SNV
Germline/somatic

Chr17:7675095

Pathogenic/Likely pathogenic

Li-Fraumeni syndrome 1
Li-Fraumeni syndrome
Ovarian neoplasm
Condition: not provided
Hereditary cancer-predisposing syndrome
Neoplasm

Criteria Provided
Multiple Submitters
No Conflicts

CA16603082

rs_876660754

7 SubmittersRCV002289541 RCV000694763 RCV000785539 RCV001821147 RCV002289542 RCV004668963

NM_000546.6(TP53):c.518T>A (p.Val173Glu)

SNV
Germline

Chr17:7675094

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1
not specified
Li-Fraumeni syndrome

Criteria Provided
Conflicting Classifications

CA16603083

rs_1057519747

4 SubmittersRCV000574130 RCV004022245 RCV000582350 RCV002524700

NM_000546.6(TP53):c.646G>T (p.Val216Leu)

SNV
Germline/somatic

Chr17:7674885

Conflicting classifications of pathogenicity

Ovarian neoplasm
Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Li-Fraumeni syndrome 1

Criteria Provided
Conflicting Classifications

CA16603084

rs_730882025

6 SubmittersRCV000785309 RCV001042741 RCV002365461 RCV003321589 RCV004022246

NM_000546.6(TP53):c.647T>G (p.Val216Gly)

SNV
Germline

Chr17:7674884

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome

Criteria Provided
Conflicting Classifications

CA16603085

rs_1057520004

2 SubmittersRCV004678697 RCV001202958

NM_000546.6(TP53):c.815T>A (p.Val272Glu)

SNV
Germline

Chr17:7673805

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Conflicting Classifications

CA16603087

rs_876660333

2 SubmittersRCV001228585 RCV004022247

NM_000546.6(TP53):c.820G>T (p.Val274Phe)

SNV
Germline/somatic

Chr17:7673800

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lip and oral cavity carcinoma
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Conflicting Classifications

CA16603088

rs_1057520005

4 SubmittersRCV002429349 RCV001255677 RCV001344689 RCV004022248

NM_000546.6(TP53):c.821T>A (p.Val274Asp)

SNV
Germline

Chr17:7673799

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA16603089

rs_1057520006

2 SubmittersRCV001229449 RCV003168618

NM_000546.6(TP53):c.821T>G (p.Val274Gly)

SNV
Germline/somatic

Chr17:7673799

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Lip and oral cavity carcinoma
Li-Fraumeni syndrome 1

Criteria Provided
Conflicting Classifications

CA16603090

rs_1057520006

4 SubmittersRCV000492506 RCV000692432 RCV001255678 RCV004022249

NM_000546.6(TP53):c.821T>C (p.Val274Ala)

SNV
Germline

Chr17:7673799

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA16603091

rs_1057520006

2 SubmittersRCV001056029 RCV002429350

NM_000546.6(TP53):c.820G>C (p.Val274Leu)

SNV
Germline

Chr17:7673800

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA16603092

rs_1057520005

2 SubmittersRCV000701251 RCV004948282

NM_000546.6(TP53):c.487T>A (p.Tyr163Asn)

SNV
Germline

Chr17:7675125

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Conflicting Classifications

CA16603093

rs_786203436

3 SubmittersRCV000633347 RCV002338982 RCV004022250

NM_000546.6(TP53):c.487T>C (p.Tyr163His)

SNV
Germline

Chr17:7675125

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1
Adrenocortical carcinoma, hereditary

Criteria Provided
Conflicting Classifications

CA16603094

rs_786203436

4 SubmittersRCV001071488 RCV001023195 RCV002289543 RCV003476012

NM_000546.6(TP53):c.614A>G (p.Tyr205Cys)

SNV
Germline

Chr17:7674917

Pathogenic

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Li-Fraumeni syndrome 1
TP53-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA16603095

rs_1057520007

5 SubmittersRCV000704312 RCV002356520 RCV004721353 RCV004022251 RCV004745373

NM_000546.6(TP53):c.613T>A (p.Tyr205Asn)

SNV
Germline

Chr17:7674918

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome 1
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome

Criteria Provided
Conflicting Classifications

CA16603098

rs_1057520008

5 SubmittersRCV000662621 RCV001024933 RCV001851022

NM_000546.6(TP53):c.613T>C (p.Tyr205His)

SNV
Germline

Chr17:7674918

Pathogenic/Likely pathogenic

Li-Fraumeni syndrome 1
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA16603099

rs_1057520008

4 SubmittersRCV004022252 RCV000775886 RCV000819983

NM_000546.6(TP53):c.613T>G (p.Tyr205Asp)

SNV
Germline

Chr17:7674918

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Li-Fraumeni syndrome 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA16603100

rs_1057520008

4 SubmittersRCV000462351 RCV000663307 RCV003441853

NM_000546.6(TP53):c.658T>C (p.Tyr220His)

SNV
Germline/somatic

Chr17:7674873

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Adrenocortical carcinoma, hereditary
Ovarian neoplasm
Li-Fraumeni syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA002135

rs_530941076

6 SubmittersRCV000566866 RCV001215103 RCV003476013 RCV000785254 RCV004022253

NM_000546.6(TP53):c.658T>A (p.Tyr220Asn)

SNV
Germline

Chr17:7674873

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Li-Fraumeni syndrome 1
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA16603101

rs_530941076

4 SubmittersRCV001313857 RCV004022254 RCV000570507 RCV001575028

NM_000546.6(TP53):c.658T>G (p.Tyr220Asp)

SNV
Germline

Chr17:7674873

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Conflicting Classifications

CA16603102

rs_530941076

2 SubmittersRCV001851023 RCV004022255

NM_000546.6(TP53):c.701A>C (p.Tyr234Ser)

SNV
Germline

Chr17:7674262

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome

Criteria Provided
Conflicting Classifications

CA16603103

rs_587780073

2 SubmittersRCV001025931 RCV001341542

NM_000546.6(TP53):c.700T>C (p.Tyr234His)

SNV
Germline/somatic

Chr17:7674263

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Ovarian neoplasm
Li-Fraumeni syndrome 1
Neoplasm
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA16603104

rs_864622237

7 SubmittersRCV000492782 RCV000530551 RCV000785304 RCV002289544 RCV004668964 RCV004719816

NM_000546.6(TP53):c.700T>A (p.Tyr234Asn)

SNV
Germline

Chr17:7674263

Pathogenic

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA16603105

rs_864622237

2 SubmittersRCV000809457 RCV001025925

NM_000546.6(TP53):c.707A>G (p.Tyr236Cys)

SNV
Germline/somatic

Chr17:7674256

Conflicting classifications of pathogenicity

Ovarian neoplasm
Li-Fraumeni syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1
Neoplasm

Criteria Provided
Conflicting Classifications

CA16603106

rs_730882026

8 SubmittersRCV000785279 RCV001201781 RCV001559774 RCV002365462 RCV004022256 RCV004668965

NM_000546.6(TP53):c.706T>A (p.Tyr236Asn)

SNV
Germline

Chr17:7674257

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Conflicting Classifications

CA16040589

rs_587782289

4 SubmittersRCV000463978 RCV000566931 RCV002289545

NM_000546.6(TP53):c.993+1G>C

SNV
Germline/somatic

Chr17:7673534

Pathogenic/Likely pathogenic

Condition: not provided
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA16607519

rs_11575997

5 SubmittersRCV000429174 RCV000799825 RCV002289556 RCV002289557

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.717C>G (p.Asn239Lys)

SNV
Germline

Chr17:7674246

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Adrenocortical carcinoma, hereditary

Criteria Provided
Conflicting Classifications

CA16607851

rs_1057522275

5 SubmittersRCV000431317 RCV000492173 RCV000529909 RCV003463830

NM_000546.6(TP53):c.673-1G>A

SNV
Germline

Chr17:7674291

Pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16607882

rs_878854073

6 SubmittersRCV000418491 RCV000708630 RCV001034938 RCV002289552

NM_000546.6(TP53):c.672+9T>C

SNV
Germline

Chr17:7674850

Conflicting classifications of pathogenicity

not specified
Li-Fraumeni syndrome

Criteria Provided
Conflicting Classifications

CA16607883

rs_1057521030

4 SubmittersRCV000425870 RCV001424406

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

Criteria Provided
Conflicting Classifications

CA004012

rs_375229869

5 SubmittersRCV000434247 RCV000583581 RCV002289573 RCV002488960

NM_000546.6(TP53):c.1101-3C>T

SNV
Germline

Chr17:7669693

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA16608655

rs_1057521167

4 SubmittersRCV001805046 RCV001861512 RCV004719077

NM_000546.6(TP53):c.919+7A>C

SNV
Germline

Chr17:7673694

Conflicting classifications of pathogenicity

not specified
Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1
TP53-related disorder

Criteria Provided
Conflicting Classifications

CA001336

rs_199527475

7 SubmittersRCV000421770 RCV000459858 RCV000580655 RCV002289568 RCV003942414

NM_000546.6(TP53):c.880G>T (p.Glu294Ter)

SNV
Germline/somatic

Chr17:7673740

Pathogenic

Condition: not provided
Ovarian neoplasm
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16608665

rs_1057520607

4 SubmittersRCV000433836 RCV001527467 RCV002374641 RCV004022313

NM_000546.6(TP53):c.96+15T>C

SNV
Germline

Chr17:7676367

Conflicting classifications of pathogenicity

not specified
Li-Fraumeni syndrome 1
Li-Fraumeni syndrome

Criteria Provided
Conflicting Classifications

CA16608670

rs_200053580

3 SubmittersRCV000419666 RCV001124309 RCV002061601

NM_000546.6(TP53):c.993+8G>A

SNV
Germline

Chr17:7673527

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Conflicting Classifications

CA16615685

rs_1060504163

2 SubmittersRCV000471374 RCV001127284

NM_000546.6(TP53):c.920-1G>C

SNV
Germline

Chr17:7673609

Pathogenic

Li-Fraumeni syndrome
Condition: not provided

Criteria Provided
Single Submitter

CA16615686

rs_587781702

2 SubmittersRCV000458070 RCV003151060

NM_000546.6(TP53):c.783-4G>A

SNV
Germline

Chr17:7673841

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA16615687

rs_1060504160

4 SubmittersRCV000468122 RCV001181991

NM_000546.6(TP53):c.951G>T (p.Gln317His)

SNV
Germline

Chr17:7673577

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA16615689

rs_1060501199

2 SubmittersRCV000477030 RCV002374764

NM_000546.6(TP53):c.932A>G (p.Asn311Ser)

SNV
Germline

Chr17:7673596

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Conflicting Classifications

CA16615690

rs_56184981

4 SubmittersRCV000473016 RCV001805064 RCV002289599

NM_000546.6(TP53):c.663G>A (p.Glu221=)

SNV
Germline

Chr17:7674868

Conflicting classifications of pathogenicity

Condition: not provided
Li-Fraumeni syndrome

Criteria Provided
Conflicting Classifications

CA16615692

rs_1060504161

2 SubmittersRCV000483671 RCV001421969

NM_000546.6(TP53):c.905G>A (p.Gly302Glu)

SNV
Germline

Chr17:7673715

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Conflicting Classifications

CA16615695

rs_1060501202

3 SubmittersRCV000468864 RCV001018766 RCV002289600

NM_000546.6(TP53):c.574C>T (p.Gln192Ter)

SNV
Germline/somatic

Chr17:7674957

Pathogenic

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Malignant tumor of breast
Li-Fraumeni syndrome 1
Adrenal cortex carcinoma
Neoplasm

Criteria Provided
Multiple Submitters
No Conflicts

CA16615700

rs_866380588

7 SubmittersRCV000472712 RCV001024481 RCV001358339 RCV002289596 RCV004000747 RCV004668979

NM_000546.6(TP53):c.783-2A>G

SNV
Germline

Chr17:7673839

Pathogenic

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA16615702

rs_1060501207

2 SubmittersRCV000464087 RCV002411441

NM_000546.6(TP53):c.773A>G (p.Glu258Gly)

SNV
Germline

Chr17:7674190

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Bone osteosarcoma
Li-Fraumeni syndrome 1

Criteria Provided
Conflicting Classifications

CA16615703

rs_1060501201

3 SubmittersRCV000459389 RCV002272239 RCV004022605

NM_000546.6(TP53):c.537T>A (p.His179Gln)

SNV
Germline/somatic

Chr17:7675075

Pathogenic

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Ovarian neoplasm
Acute myeloid leukemia

Reviewed By Expert Panel

CA16615708

rs_876660821

5 SubmittersRCV000464573 RCV000567952 RCV001527472 RCV003159559

NM_000546.6(TP53):c.464C>A (p.Thr155Asn)

SNV
Germline

Chr17:7675148

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Li-Fraumeni syndrome 1

Criteria Provided
Conflicting Classifications

CA16615709

rs_786202752

6 SubmittersRCV000473602 RCV000492645 RCV000506226 RCV002269272 RCV004022603

NM_000546.6(TP53):c.727A>G (p.Met243Val)

SNV
Germline

Chr17:7674236

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Conflicting Classifications

CA16615711

rs_786203117

5 SubmittersRCV000464185 RCV000562254 RCV002289590

NM_000546.6(TP53):c.329G>T (p.Arg110Leu)

SNV
Germline/somatic

Chr17:7676040

Pathogenic/Likely pathogenic

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Ovarian neoplasm
Li-Fraumeni syndrome 1
Adrenal cortex carcinoma
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA002845

rs_11540654

10 SubmittersRCV000473145 RCV000492590 RCV000785348 RCV002289602 RCV004000748 RCV004999438

NM_000546.6(TP53):c.132G>A (p.Met44Ile)

SNV
Germline

Chr17:7676237

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Conflicting Classifications

CA16615713

rs_1060501190

3 SubmittersRCV000459820 RCV001011072 RCV002289589

NM_000546.6(TP53):c.103T>A (p.Leu35Met)

SNV
Germline

Chr17:7676266

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Conflicting Classifications

CA16615715

rs_1060501211

3 SubmittersRCV000470404 RCV000572574 RCV002289606

NM_000546.6(TP53):c.664C>T (p.Pro222Ser)

SNV
Germline

Chr17:7674867

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA16615720

rs_1060501203

4 SubmittersRCV000477098 RCV000564109 RCV003318578

NM_000546.6(TP53):c.530C>T (p.Pro177Leu)

SNV
Germline/somatic

Chr17:7675082

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Neoplasm

Criteria Provided
Conflicting Classifications

CA16615728

rs_751477326

6 SubmittersRCV000477631 RCV000759377 RCV002348300 RCV004668980

NM_000546.6(TP53):c.321C>A (p.Tyr107Ter)

SNV
Germline/somatic

Chr17:7676048

Pathogenic

Li-Fraumeni syndrome
Neoplasm

Criteria Provided
Single Submitter

CA16615729

rs_770776262

2 SubmittersRCV000473161 RCV004668981

NM_000546.6(TP53):c.313G>C (p.Gly105Arg)

SNV
Germline

Chr17:7676056

Pathogenic/Likely pathogenic

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16615732

rs_1060501195

3 SubmittersRCV000475325 RCV000492606 RCV002289594

NM_000546.6(TP53):c.79C>A (p.Pro27Thr)

SNV
Germline

Chr17:7676399

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Conflicting Classifications

CA16615735

rs_922736614

4 SubmittersRCV000468603 RCV000986054 RCV002289604 RCV002289603

NM_000546.6(TP53):c.920-5C>A

SNV
Germline

Chr17:7673613

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA16615935

rs_34361146

2 SubmittersRCV000471798 RCV002374840

NM_000546.6(TP53):c.843C>A (p.Asp281Glu)

SNV
Germline/somatic

Chr17:7673777

Likely pathogenic

Li-Fraumeni syndrome
Carcinoma of colon
Condition: not provided
Ovarian neoplasm
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA16615937

rs_1057519984

5 SubmittersRCV000470818 RCV000499361 RCV000658764 RCV000785325 RCV002446795

NM_000546.6(TP53):c.811G>A (p.Glu271Lys)

SNV
Germline

Chr17:7673809

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype

Criteria Provided
Conflicting Classifications

CA16615939

rs_1060501191

5 SubmittersRCV000457572 RCV000775714 RCV001815331 RCV003315242

NM_000546.6(TP53):c.747G>C (p.Arg249Ser)

SNV
Germline

Chr17:7674216

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Conflicting Classifications

CA16615944

rs_28934571

2 SubmittersRCV000465003 RCV004022606

NM_000546.6(TP53):c.646G>C (p.Val216Leu)

SNV
Germline/somatic

Chr17:7674885

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Squamous cell carcinoma of the head and neck

Criteria Provided
Conflicting Classifications

CA16615950

rs_730882025

2 SubmittersRCV000466409 RCV001270272

NM_000546.6(TP53):c.139C>A (p.Pro47Thr)

SNV
Germline

Chr17:7676230

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Conflicting Classifications

CA16615959

rs_1800371

5 SubmittersRCV000463583 RCV000774798 RCV002289605

NM_000546.6(TP53):c.11C>G (p.Pro4Arg)

SNV
Germline

Chr17:7676584

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Conflicting Classifications

CA16615964

rs_878854064

3 SubmittersRCV000475451 RCV001010274 RCV002289597

NM_000546.6(TP53):c.941C>T (p.Ser314Phe)

SNV
Germline

Chr17:7673587

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1
Adrenocortical carcinoma, hereditary

Criteria Provided
Conflicting Classifications

CA001234

rs_751440465

5 SubmittersRCV000456310 RCV000570325 RCV002289598 RCV004567972

NM_000546.6(TP53):c.924G>C (p.Leu308=)

SNV
Germline

Chr17:7673604

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
not specified
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA16615992

rs_786202546

5 SubmittersRCV000462950 RCV000506600 RCV000575062

NM_000546.6(TP53):c.740A>G (p.Asn247Ser)

SNV
Germline

Chr17:7674223

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA16615997

rs_786201762

2 SubmittersRCV000457243 RCV002379430

NM_007194.4(CHEK2):c.1461+5G>A

SNV
Germline

Chr22:28694027

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 2

Criteria Provided
Conflicting Classifications

CA16616302

rs_769841229

7 SubmittersRCV000468962 RCV000561946 RCV003444238

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
Li-Fraumeni syndrome 2

Criteria Provided
Conflicting Classifications

CA10167900

rs_748636216

6 SubmittersRCV000465132 RCV000568008 RCV001555558 RCV004595507

NM_000546.6(TP53):c.992A>G (p.Gln331Arg)

SNV
Germline

Chr17:7673536

Conflicting classifications of pathogenicity

Condition: not provided
Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Conflicting Classifications

CA16620611

rs_1064795056

4 SubmittersRCV000479182 RCV001037256 RCV002289637 RCV002289636

NM_000546.6(TP53):c.970G>C (p.Asp324His)

SNV
Germline

Chr17:7673558

Conflicting classifications of pathogenicity

Condition: not provided
Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Conflicting Classifications

CA16620612

rs_1064794810

6 SubmittersRCV000478385 RCV000555965 RCV000573045 RCV002289633

NM_000546.6(TP53):c.884C>T (p.Pro295Leu)

SNV
Germline

Chr17:7673736

Conflicting classifications of pathogenicity

Condition: not provided
Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA001416

rs_751713111

5 SubmittersRCV000486525 RCV000633374 RCV000774786

NM_000546.6(TP53):c.861G>C (p.Glu287Asp)

SNV
Germline/somatic

Chr17:7673759

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1
Neoplasm
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA001463

rs_748891343

9 SubmittersRCV000481706 RCV000568299 RCV001214612 RCV002289642 RCV004668997 RCV004760528

NM_000546.6(TP53):c.853G>A (p.Glu285Lys)

SNV
Germline/somatic

Chr17:7673767

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Poly (ADP-Ribose) polymerase inhibitor response
Li-Fraumeni syndrome 1
Li-Fraumeni syndrome
Neoplasm

Criteria Provided
Multiple Submitters
No Conflicts

CA16620615

rs_112431538

7 SubmittersRCV000479542 RCV000492206 RCV000626449 RCV002289628 RCV000633365 RCV004668993

NM_000546.6(TP53):c.836G>A (p.Gly279Glu)

SNV
Germline/somatic

Chr17:7673784

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
not specified
Squamous cell carcinoma of the head and neck
Ovarian neoplasm
Li-Fraumeni syndrome 1
Li-Fraumeni syndrome

Criteria Provided
Conflicting Classifications

CA16620616

rs_1064793881

9 SubmittersRCV000484876 RCV000492354 RCV000584418 RCV000989709 RCV000785274 RCV002289625 RCV002526543

NM_000546.6(TP53):c.829T>C (p.Cys277Arg)

SNV
Germline

Chr17:7673791

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA16620617

rs_1064795369

4 SubmittersRCV000480494 RCV000819627 RCV002248705 RCV002431408

NM_000546.6(TP53):c.749C>T (p.Pro250Leu)

SNV
Germline/somatic

Chr17:7674214

Pathogenic/Likely pathogenic

Condition: not provided
Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Neoplasm

Criteria Provided
Multiple Submitters
No Conflicts

CA16620620

rs_1064794311

5 SubmittersRCV000479937 RCV000547538 RCV001026502 RCV004668994

NM_000546.6(TP53):c.686G>A (p.Cys229Tyr)

SNV
Germline

Chr17:7674277

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1
Adrenocortical carcinoma, hereditary

Criteria Provided
Conflicting Classifications

CA16620622

rs_1064793603

8 SubmittersRCV000482575 RCV000775944 RCV001215783 RCV002289624 RCV004568157

NM_000546.6(TP53):c.685T>C (p.Cys229Arg)

SNV
Germline

Chr17:7674278

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome

Criteria Provided
Conflicting Classifications

CA16620623

rs_1064794312

4 SubmittersRCV000482930 RCV000492777 RCV000633388

NM_000546.6(TP53):c.569C>T (p.Pro190Leu)

SNV
Germline

Chr17:7674962

Likely pathogenic

Condition: not provided
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA16620625

rs_876660825

5 SubmittersRCV000484792 RCV000551566 RCV001527084 RCV002350050

NM_000546.6(TP53):c.482C>A (p.Ala161Asp)

SNV
Germline

Chr17:7675130

Conflicting classifications of pathogenicity

Condition: not provided
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA16620630

rs_1064795691

4 SubmittersRCV000481512 RCV000552464 RCV004023170 RCV004686588

NM_000546.6(TP53):c.457C>T (p.Pro153Ser)

SNV
Germline

Chr17:7675155

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1
TP53-related disorder

Criteria Provided
Conflicting Classifications

CA16620631

rs_1064795860

7 SubmittersRCV000481578 RCV000561574 RCV000795252 RCV002289645 RCV004745422

NM_000546.6(TP53):c.399G>A (p.Met133Ile)

SNV
Germline

Chr17:7675213

Conflicting classifications of pathogenicity

Condition: not provided
Li-Fraumeni syndrome 1
Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Adrenocortical carcinoma, hereditary

Criteria Provided
Conflicting Classifications

CA16620633

rs_1064795139

8 SubmittersRCV000484833 RCV000662907 RCV001052030 RCV002289639 RCV004568185

NM_000546.6(TP53):c.159G>A (p.Trp53Ter)

SNV
Germline

Chr17:7676210

Pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1
Adrenocortical carcinoma, hereditary

Criteria Provided
Multiple Submitters
No Conflicts

CA16620640

rs_1064794618

7 SubmittersRCV000480240 RCV001012297 RCV001236368 RCV002289632 RCV003464011

NM_000546.6(TP53):c.31G>A (p.Glu11Lys)

SNV
Germline

Chr17:7676564

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA003910

rs_201382018

7 SubmittersRCV000563270 RCV000548671 RCV000663228 RCV001704594

NM_007194.4(CHEK2):c.1482G>C (p.Lys494Asn)

SNV
Germline

Chr22:28689195

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA16621043

rs_767043399

8 SubmittersRCV000485124 RCV000562793 RCV000556152 RCV001174504 RCV004689756

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
Malignant tumor of prostate
Li-Fraumeni syndrome 2
Bone osteosarcoma
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA16621080

rs_560596101

10 SubmittersRCV000483398 RCV000543761 RCV000562639 RCV000763474

NM_000546.6(TP53):c.1000G>T (p.Gly334Trp)

SNV
Germline

Chr17:7670709

Likely pathogenic

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA397832878

rs_730882028

3 SubmittersRCV000492343 RCV002289665

NM_000546.6(TP53):c.993G>A (p.Gln331=)

SNV
Germline/somatic

Chr17:7673535

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1
Neoplasm
TP53-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA10590137

rs_11575996

8 SubmittersRCV000492456 RCV000521745 RCV000685844 RCV002289663 RCV004669006 RCV004797613

NM_000546.6(TP53):c.919+2T>G

SNV
Germline/somatic

Chr17:7673699

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Condition: not provided
Li-Fraumeni syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA397836235

rs_1131691016

5 SubmittersRCV000492618 RCV000808655 RCV001542803 RCV002289666

NM_000546.6(TP53):c.919+1G>C

SNV
Germline/somatic

Chr17:7673700

Likely pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Ovarian neoplasm
Li-Fraumeni syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA397836244

rs_1131691039

4 SubmittersRCV000492089 RCV000786818 RCV000785296 RCV004023283

NM_000546.6(TP53):c.826G>C (p.Ala276Pro)

SNV
Germline/somatic

Chr17:7673794

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Ovarian neoplasm
Adrenocortical carcinoma, hereditary

Criteria Provided
Conflicting Classifications

CA397836931

rs_1131691029

4 SubmittersRCV000492584 RCV000705570 RCV000785453 RCV004568619

NM_000546.6(TP53):c.800G>C (p.Arg267Pro)

SNV
Germline/somatic

Chr17:7673820

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Acute myeloid leukemia

Criteria Provided
Conflicting Classifications

CA397837115

rs_587780075

3 SubmittersRCV000492273 RCV000691629 RCV003326137

NM_000546.6(TP53):c.737T>C (p.Met246Thr)

SNV
Germline/somatic

Chr17:7674226

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Ovarian neoplasm
Li-Fraumeni syndrome 1

Criteria Provided
Conflicting Classifications

CA397838998

rs_587780074

4 SubmittersRCV000492075 RCV000704600 RCV000785245 RCV002289671

NM_000546.6(TP53):c.643A>C (p.Ser215Arg)

SNV
Germline

Chr17:7674888

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Conflicting Classifications

CA397840019

rs_886039484

3 SubmittersRCV000492567 RCV002523445 RCV004023282

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

Criteria Provided
Multiple Submitters
No Conflicts

CA397841068

rs_1131691042

9 SubmittersRCV000492159 RCV000763418 RCV000786834 RCV001210960 RCV002289678 RCV003476180

NM_000546.6(TP53):c.514G>T (p.Val172Phe)

SNV
Germline

Chr17:7675098

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Conflicting Classifications

CA397841576

rs_1131691043

3 SubmittersRCV000492688 RCV002527066 RCV004023284

NM_000546.6(TP53):c.503A>G (p.His168Arg)

SNV
Germline

Chr17:7675109

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Conflicting Classifications

CA287488569

rs_867114783

3 SubmittersRCV000492442 RCV000702915 RCV004023278

NM_000546.6(TP53):c.470T>C (p.Val157Ala)

SNV
Germline

Chr17:7675142

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Adrenal cortex carcinoma
Condition: not provided
Li-Fraumeni syndrome 1
Li-Fraumeni syndrome

Criteria Provided
Conflicting Classifications

CA397842041

rs_1131691023

5 SubmittersRCV000492393 RCV000505579 RCV002274041 RCV002289672 RCV003509552

NM_000546.6(TP53):c.442G>T (p.Asp148Tyr)

SNV
Germline

Chr17:7675170

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Conflicting Classifications

CA397842304

rs_1131691007

5 SubmittersRCV000492685 RCV000799619 RCV002289662

NM_000546.6(TP53):c.438G>A (p.Trp146Ter)

SNV
Germline/somatic

Chr17:7675174

Pathogenic

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Ovarian neoplasm
Li-Fraumeni syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA397842363

rs_1131691026

5 SubmittersRCV000492181 RCV000633358 RCV001527473 RCV002289674

NM_000546.6(TP53):c.392A>T (p.Asn131Ile)

SNV
Germline

Chr17:7675220

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA397842926

rs_1131691037

4 SubmittersRCV000492742 RCV000821569 RCV002289677

NM_000546.6(TP53):c.313G>A (p.Gly105Ser)

SNV
Germline/somatic

Chr17:7676056

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1
Adrenal cortex carcinoma

Criteria Provided
Multiple Submitters
No Conflicts

CA397844735

rs_1060501195

4 SubmittersRCV000492331 RCV001379190 RCV002289669 RCV004003474

NM_000546.6(TP53):c.96+1G>C

SNV
Germline

Chr17:7676381

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA397848258

rs_1131691003

4 SubmittersRCV000492543 RCV002523444 RCV003485592

NM_000546.6(TP53):c.75-2A>G

SNV
Germline/somatic

Chr17:7676405

Likely pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA397848502

rs_1131691020

4 SubmittersRCV000492315 RCV001543700 RCV001851347 RCV002289668

NM_000546.6(TP53):c.1015G>T (p.Glu339Ter)

SNV
Germline

Chr17:7670694

Pathogenic

Li-Fraumeni syndrome 1
Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
TP53-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA397832685

rs_17882252

4 SubmittersRCV000505616 RCV000689964 RCV002341191 RCV003409717

NM_000546.6(TP53):c.752T>C (p.Ile251Thr)

SNV
Germline

Chr17:7674211

Conflicting classifications of pathogenicity

not specified
Li-Fraumeni syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA397838899

rs_730882027

4 SubmittersRCV000506798 RCV001379962 RCV001755753 RCV002395222

NM_000546.6(TP53):c.617T>C (p.Leu206Ser)

SNV
Germline

Chr17:7674914

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome

Criteria Provided
Conflicting Classifications

CA397840264

rs_1555525804

3 SubmittersRCV000507226 RCV000566251 RCV001049540

NM_000546.6(TP53):c.375+2T>C

SNV
Germline

Chr17:7675992

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary breast ovarian cancer syndrome
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA397844132

rs_1555526469

5 SubmittersRCV000505908 RCV000586625 RCV000692558 RCV002289693 RCV002289694

NM_007194.4(CHEK2):c.417C>A (p.Tyr139Ter)

SNV
Germline

Chr22:28725270

Pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Familial cancer of breast
Bone osteosarcoma
Li-Fraumeni syndrome 2
Malignant tumor of prostate
Hereditary breast ovarian cancer syndrome
Breast and/or ovarian cancer
Familial prostate cancer
Bone osteosarcoma
Li-Fraumeni syndrome 2

Criteria Provided
Multiple Submitters
No Conflicts

CA411107953

rs_200917541

10 SubmittersRCV000507030 RCV000572280 RCV000541871 RCV000763476 RCV001375597 RCV003150248 RCV004796214

NM_000546.6(TP53):c.478A>G (p.Met160Val)

SNV
Germline

Chr17:7675134

Conflicting classifications of pathogenicity

Condition: not provided
Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Adrenocortical carcinoma, hereditary

Criteria Provided
Conflicting Classifications

CA397841976

rs_377274728

5 SubmittersRCV000513585 RCV001051011 RCV000570720 RCV004568658

NM_000546.6(TP53):c.949C>T (p.Gln317Ter)

SNV
Germline/somatic

Chr17:7673579

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1
Neoplasm

Criteria Provided
Multiple Submitters
No Conflicts

CA397835973

rs_764735889

7 SubmittersRCV000520579 RCV000583201 RCV000615397 RCV002289710 RCV004669021

NM_000546.6(TP53):c.724T>C (p.Cys242Arg)

SNV
Germline

Chr17:7674239

Conflicting classifications of pathogenicity

Condition: not provided
Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Conflicting Classifications

CA397839073

rs_1057519982

5 SubmittersRCV000523905 RCV001857954 RCV002376961 RCV004023543

NM_007194.4(CHEK2):c.232C>T (p.Gln78Ter)

SNV
Germline

Chr22:28734490

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Li-Fraumeni syndrome 2

Criteria Provided
Multiple Submitters
No Conflicts

CA411090665

rs_1555932341

6 SubmittersRCV000522849 RCV001015209 RCV000576726 RCV004577527

NM_000546.6(TP53):c.1165G>A (p.Gly389Arg)

SNV
Germline

Chr17:7669626

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA397830162

rs_587783064

3 SubmittersRCV000558251 RCV002330841

NM_000546.6(TP53):c.925C>T (p.Pro309Ser)

SNV
Germline

Chr17:7673603

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Conflicting Classifications

CA397836140

rs_1555525012

6 SubmittersRCV000537437 RCV000574214 RCV002289745

NM_000546.6(TP53):c.850A>T (p.Thr284Ser)

SNV
Germline

Chr17:7673770

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA397836761

rs_1204379654

5 SubmittersRCV000546011 RCV000563243 RCV001544620

NM_000546.6(TP53):c.783-1G>A

SNV
Germline/somatic

Chr17:7673838

Pathogenic/Likely pathogenic

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Li-Fraumeni syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA397837303

rs_1555525367

6 SubmittersRCV000539601 RCV000565712 RCV001533211 RCV002289743

NM_000546.6(TP53):c.770T>C (p.Leu257Pro)

SNV
Germline

Chr17:7674193

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Conflicting Classifications

CA397837703

rs_28934577

3 SubmittersRCV000540536 RCV003159760 RCV004023790

NM_000546.6(TP53):c.731G>C (p.Gly244Ala)

SNV
Germline/somatic

Chr17:7674232

Pathogenic/Likely pathogenic

Li-Fraumeni syndrome
Lip and oral cavity carcinoma
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA287488006

rs_985033810

4 SubmittersRCV000548437 RCV001255675 RCV002384069 RCV004023789

NM_000546.6(TP53):c.476C>T (p.Ala159Val)

SNV
Germline/somatic

Chr17:7675136

Pathogenic/Likely pathogenic

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Neoplasm
Condition: not provided
Adrenocortical carcinoma, hereditary
Li-Fraumeni syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA397842017

rs_1555526131

6 SubmittersRCV000527533 RCV002341276 RCV004669032 RCV001764539 RCV003476227 RCV004023788

NM_000546.6(TP53):c.377A>G (p.Tyr126Cys)

SNV
Germline/somatic

Chr17:7675235

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Ovarian neoplasm
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Conflicting Classifications

CA397843956

rs_1555526335

6 SubmittersRCV000547041 RCV000785493 RCV001021115 RCV002289730

NM_000546.6(TP53):c.341T>C (p.Leu114Ser)

SNV
Germline

Chr17:7676028

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
not specified
Li-Fraumeni syndrome 1

Criteria Provided
Conflicting Classifications

CA002835

rs_781724995

5 SubmittersRCV000537102 RCV001177908 RCV001821513 RCV002289729

NM_000546.6(TP53):c.229C>A (p.Pro77Thr)

SNV
Germline

Chr17:7676140

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Conflicting Classifications

CA003025

rs_753085009

4 SubmittersRCV000546598 RCV000563835 RCV002289723

NM_000546.6(TP53):c.1085G>A (p.Ser362Asn)

SNV
Germline

Chr17:7670624

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA397831856

rs_768803947

3 SubmittersRCV000530397 RCV002431550

NM_000546.6(TP53):c.677G>T (p.Gly226Val)

SNV
Germline

Chr17:7674286

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Li-Fraumeni syndrome 1

Criteria Provided
Conflicting Classifications

CA287488077

rs_970212462

5 SubmittersRCV000542075 RCV000572327 RCV001591203 RCV002289739

NM_000546.6(TP53):c.673-2A>G

SNV
Germline/somatic

Chr17:7674292

Pathogenic/Likely pathogenic

Li-Fraumeni syndrome
Condition: not provided
Ovarian neoplasm
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA397839547

rs_1555525585

7 SubmittersRCV000553068 RCV000786824 RCV000785307 RCV002289738 RCV002289737

NM_000546.6(TP53):c.530C>G (p.Pro177Arg)

SNV
Germline

Chr17:7675082

Pathogenic/Likely pathogenic

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Li-Fraumeni syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA002428

rs_751477326

6 SubmittersRCV000540639 RCV000565979 RCV000582953 RCV002289734

NM_000546.6(TP53):c.463A>G (p.Thr155Ala)

SNV
Germline

Chr17:7675149

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Condition: not provided
Li-Fraumeni syndrome 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA002539

rs_772683278

4 SubmittersRCV000534841 RCV001563388 RCV002289732 RCV002289733

NM_000546.6(TP53):c.372C>A (p.Cys124Ter)

SNV
Germline

Chr17:7675997

Pathogenic

Li-Fraumeni syndrome
Li-Fraumeni syndrome 1

Reviewed By Expert Panel

CA397844214

rs_1555526478

3 SubmittersRCV000541004 RCV004023787

NM_000546.6(TP53):c.1060C>T (p.Gln354Ter)

SNV
Germline

Chr17:7670649

Likely pathogenic

Li-Fraumeni syndrome

Criteria Provided
Single Submitter

CA397832178

rs_755394212

1 SubmittersRCV000531178

NM_000546.6(TP53):c.835G>A (p.Gly279Arg)

SNV
Germline

Chr17:7673785

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1
Adrenocortical carcinoma, hereditary

Criteria Provided
Conflicting Classifications

CA397836877

rs_1555525248

4 SubmittersRCV000547189 RCV000566142 RCV002267618 RCV003459203

NM_000546.6(TP53):c.516T>G (p.Val172=)

SNV
Germline

Chr17:7675096

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA002450

rs_749309577

4 SubmittersRCV000556128 RCV000578979 RCV001023655

NM_000546.6(TP53):c.289G>T (p.Val97Phe)

SNV
Germline

Chr17:7676080

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Conflicting Classifications

CA397844977

rs_730882023

4 SubmittersRCV000545045 RCV001526005 RCV002289725

NM_000546.6(TP53):c.26G>A (p.Ser9Asn)

SNV
Germline

Chr17:7676569

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA397849248

rs_1555527015

2 SubmittersRCV000534258 RCV004787847

NM_000546.6(TP53):c.1084A>T (p.Ser362Cys)

SNV
Germline

Chr17:7670625

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA397831862

rs_1287887419

2 SubmittersRCV000552096 RCV004787846

NM_000546.6(TP53):c.993+7A>G

SNV
Germline

Chr17:7673528

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
not specified

Criteria Provided
Conflicting Classifications

CA287486495

rs_1023206153

3 SubmittersRCV000555186 RCV000581959 RCV004767338

NM_000546.6(TP53):c.917G>A (p.Arg306Gln)

SNV
Germline

Chr17:7673703

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Squamous cell carcinoma of the head and neck
Condition: not provided
not specified
Adrenocortical carcinoma, hereditary

Criteria Provided
Conflicting Classifications

CA287486566

rs_1048095040

10 SubmittersRCV000527123 RCV000561902 RCV000664300 RCV000989706 RCV000986056 RCV003330753 RCV004568752

NM_000546.6(TP53):c.830G>T (p.Cys277Phe)

SNV
Germline

Chr17:7673790

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
TP53-related disorder
Li-Fraumeni syndrome 1

Criteria Provided
Conflicting Classifications

CA001518

rs_763098116

6 SubmittersRCV000532028 RCV002431551 RCV003409773 RCV004023791

NM_000546.6(TP53):c.796G>A (p.Gly266Arg)

SNV
Germline/somatic

Chr17:7673824

Pathogenic

Li-Fraumeni syndrome
Ovarian neoplasm
Li-Fraumeni syndrome 1
Condition: not provided
Hereditary cancer-predisposing syndrome
Neoplasm
Adrenocortical carcinoma, hereditary

Criteria Provided
Multiple Submitters
No Conflicts

CA397837142

rs_1057519990

7 SubmittersRCV000528667 RCV000785497 RCV002289744 RCV004772959 RCV001027016 RCV004669033 RCV004568751

NM_000546.6(TP53):c.388C>G (p.Leu130Val)

SNV
Germline

Chr17:7675224

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Li-Fraumeni syndrome 1
Adrenocortical carcinoma, hereditary

Criteria Provided
Conflicting Classifications

CA287488714

rs_863224683

5 SubmittersRCV000536061 RCV000565366 RCV000759374 RCV002289731 RCV003459202

NM_000546.6(TP53):c.376-2A>T

SNV
Germline/somatic

Chr17:7675238

Pathogenic/Likely pathogenic

Li-Fraumeni syndrome
Ovarian neoplasm
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA397843977

rs_786202799

4 SubmittersRCV000532456 RCV000785465 RCV000786837 RCV002350198

NM_000546.6(TP53):c.1054G>T (p.Asp352Tyr)

SNV
Germline

Chr17:7670655

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Conflicting Classifications

CA397832246

rs_1555524394

3 SubmittersRCV000574074 RCV001043167 RCV002289807

NM_000546.6(TP53):c.1160C>G (p.Thr387Arg)

SNV
Germline

Chr17:7669631

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome

Criteria Provided
Conflicting Classifications

CA287485465

rs_927888647

3 SubmittersRCV000569933 RCV001035792

NM_000546.6(TP53):c.848G>C (p.Arg283Pro)

SNV
Germline

Chr17:7673772

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Li-Fraumeni syndrome 1
Li-Fraumeni syndrome

Criteria Provided
Conflicting Classifications

CA397836790

rs_371409680

5 SubmittersRCV000565161 RCV001731795 RCV002289837 RCV003767232

NM_000546.6(TP53):c.737T>A (p.Met246Lys)

SNV
Germline

Chr17:7674226

Likely pathogenic

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA397839001

rs_587780074

3 SubmittersRCV000574219 RCV000797952 RCV002289798

NM_000546.6(TP53):c.1104C>G (p.His368Gln)

SNV
Germline

Chr17:7669687

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1
Adrenocortical carcinoma, hereditary

Criteria Provided
Conflicting Classifications

CA397830872

rs_1289241865

4 SubmittersRCV000575539 RCV000798387 RCV002289832 RCV004569245

NM_000546.6(TP53):c.533A>C (p.His178Pro)

SNV
Germline

Chr17:7675079

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Adrenocortical carcinoma, hereditary

Criteria Provided
Conflicting Classifications

CA397841366

rs_1555526004

4 SubmittersRCV000562255 RCV001216080 RCV003476347

NM_000546.6(TP53):c.1014C>G (p.Phe338Leu)

SNV
Germline

Chr17:7670695

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Conflicting Classifications

CA000848

rs_150293825

5 SubmittersRCV000576115 RCV001322989 RCV002289821

NM_000546.6(TP53):c.974G>A (p.Gly325Glu)

SNV
Germline

Chr17:7673554

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Adrenocortical carcinoma, hereditary

Criteria Provided
Conflicting Classifications

CA397835817

rs_121912659

5 SubmittersRCV000566077 RCV001217424 RCV003476325

NM_000546.6(TP53):c.443A>C (p.Asp148Ala)

SNV
Germline

Chr17:7675169

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Conflicting Classifications

CA287488644

rs_1046611742

3 SubmittersRCV000569500 RCV001056511 RCV002289830

NM_000546.6(TP53):c.434T>A (p.Leu145Gln)

SNV
Germline/somatic

Chr17:7675178

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ovarian neoplasm
Condition: not provided
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Conflicting Classifications

CA397842430

rs_587782197

7 SubmittersRCV000565971 RCV000785310 RCV001537369 RCV003621548 RCV004024460

NM_000546.6(TP53):c.1133C>G (p.Ser378Cys)

SNV
Germline

Chr17:7669658

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Conflicting Classifications

CA397830603

rs_1555524130

4 SubmittersRCV000562179 RCV001858143 RCV002289792

NM_000546.6(TP53):c.406C>G (p.Gln136Glu)

SNV
Germline

Chr17:7675206

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Conflicting Classifications

CA397842769

rs_1555526268

3 SubmittersRCV000572692 RCV001352113 RCV002289793

NM_000546.6(TP53):c.1085G>T (p.Ser362Ile)

SNV
Germline

Chr17:7670624

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome

Criteria Provided
Conflicting Classifications

CA000768

rs_768803947

3 SubmittersRCV000572520 RCV003509568

NM_000546.6(TP53):c.376-4A>T

SNV
Germline

Chr17:7675240

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome

Criteria Provided
Conflicting Classifications

CA397843997

rs_1221388024

4 SubmittersRCV000564076 RCV001451701

NM_000546.6(TP53):c.160T>C (p.Phe54Leu)

SNV
Germline

Chr17:7676209

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome

Criteria Provided
Conflicting Classifications

CA397846436

rs_1555526742

2 SubmittersRCV000571144 RCV003621549

NM_000546.6(TP53):c.96+1G>T

SNV
Germline/somatic

Chr17:7676381

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
11 conditions
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA397848251

rs_1131691003

6 SubmittersRCV000566426 RCV000763420 RCV001203248 RCV002289813 RCV003320444

NM_000546.6(TP53):c.673G>A (p.Val225Ile)

SNV
Germline

Chr17:7674290

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA397839539

rs_746504075

4 SubmittersRCV000571914 RCV001216966 RCV002289785 RCV005000252

NM_000546.6(TP53):c.776A>T (p.Asp259Val)

SNV
Germline

Chr17:7674187

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1
Li-Fraumeni syndrome

Criteria Provided
Conflicting Classifications

CA397837621

rs_745425759

5 SubmittersRCV000563029 RCV000663222 RCV002526892

NM_000546.6(TP53):c.738G>A (p.Met246Ile)

SNV
Germline

Chr17:7674225

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA287487993

rs_1019340046

3 SubmittersRCV000561491 RCV000633390 RCV003483672

NM_000546.6(TP53):c.428T>G (p.Val143Gly)

SNV
Germline

Chr17:7675184

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA397842510

rs_1555526241

3 SubmittersRCV000562247 RCV002526919 RCV004719887

NM_000546.6(TP53):c.712T>A (p.Cys238Ser)

SNV
Germline

Chr17:7674251

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome

Criteria Provided
Conflicting Classifications

CA397839198

rs_1057519981

2 SubmittersRCV000565464 RCV003509567

NM_000546.6(TP53):c.694A>C (p.Ile232Leu)

SNV
Germline

Chr17:7674269

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Li-Fraumeni syndrome 1
Li-Fraumeni syndrome

Criteria Provided
Conflicting Classifications

CA397839370

rs_1555525562

5 SubmittersRCV000567074 RCV000759379 RCV002289814 RCV002530256

NM_000546.6(TP53):c.400T>A (p.Phe134Ile)

SNV
Germline

Chr17:7675212

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA397842840

rs_267605077

2 SubmittersRCV000565274 RCV004024466

NM_000546.6(TP53):c.382C>A (p.Pro128Thr)

SNV
Germline

Chr17:7675230

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1
Breast and/or ovarian cancer
Condition: not provided

Criteria Provided
Conflicting Classifications

CA397843906

rs_1555526327

8 SubmittersRCV000569462 RCV000633349 RCV002289789 RCV003492102 RCV004592649

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

Criteria Provided
Conflicting Classifications

CA397845138

rs_1210700121

6 SubmittersRCV000566433 RCV000811514 RCV002289782

NM_000546.6(TP53):c.263C>T (p.Ala88Val)

SNV
Germline

Chr17:7676106

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Conflicting Classifications

CA397845305

rs_1555526631

4 SubmittersRCV000565147 RCV001322778 RCV002289783

NM_000546.6(TP53):c.454C>T (p.Pro152Ser)

SNV
Germline

Chr17:7675158

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Glioma susceptibility 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA002580

rs_767328513

4 SubmittersRCV000570923 RCV001367015 RCV002272288 RCV004721449

NM_000546.6(TP53):c.214C>T (p.Pro72Ser)

SNV
Germline

Chr17:7676155

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome

Criteria Provided
Conflicting Classifications

CA003069

rs_587782769

2 SubmittersRCV000573116 RCV002304214

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

Criteria Provided
Multiple Submitters
No Conflicts

CA287488727

rs_868137297

10 SubmittersRCV000570638 RCV000786836 RCV000800144 RCV000785531 RCV001255670 RCV002289803

NM_000546.6(TP53):c.375+2T>G

SNV
Germline

Chr17:7675992

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Li-Fraumeni syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA397844129

rs_1555526469

3 SubmittersRCV000571256 RCV000786838 RCV003767131

NM_000546.6(TP53):c.375G>C (p.Thr125=)

SNV
Germline/somatic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA497926317

rs_55863639

6 SubmittersRCV000570944 RCV002508940 RCV003403351 RCV003509563 RCV003476320 RCV004024459

NM_000546.6(TP53):c.98C>A (p.Ser33Tyr)

SNV
Germline

Chr17:7676271

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Conflicting Classifications

CA397848079

rs_1555526832

3 SubmittersRCV000561224 RCV000819381 RCV002289812

NM_000546.6(TP53):c.121G>A (p.Asp41Asn)

SNV
Germline

Chr17:7676248

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Conflicting Classifications

CA397847025

rs_1555526789

3 SubmittersRCV000562780 RCV000822098 RCV002289833

NM_000546.6(TP53):c.1038G>C (p.Glu346Asp)

SNV
Germline

Chr17:7670671

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome

Criteria Provided
Conflicting Classifications

CA397832451

rs_1555524406

2 SubmittersRCV000562934 RCV001865731

NM_000546.6(TP53):c.1004G>A (p.Arg335His)

SNV
Germline

Chr17:7670705

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Conflicting Classifications

CA000869

rs_771939956

6 SubmittersRCV000563037 RCV000803182 RCV002289786

NM_000546.6(TP53):c.994-2A>G

SNV
Germline

Chr17:7670717

Pathogenic/Likely pathogenic

Li-Fraumeni syndrome 1
Hereditary cancer-predisposing syndrome
Condition: not provided
TP53-related disorder
Li-Fraumeni syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA287485766

rs_867389695

6 SubmittersRCV003338668 RCV000572283 RCV000786813 RCV004797615 RCV003117344

NM_000546.6(TP53):c.920-1G>T

SNV
Germline/somatic

Chr17:7673609

Pathogenic

Hereditary cancer-predisposing syndrome
Ovarian neoplasm
Condition: not provided
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA397836174

rs_587781702

5 SubmittersRCV000563356 RCV000785455 RCV001672879 RCV001553698 RCV002289799

NM_000546.6(TP53):c.902C>T (p.Pro301Leu)

SNV
Germline

Chr17:7673718

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Conflicting Classifications

CA397836344

rs_1555525067

3 SubmittersRCV000574619 RCV001858158 RCV002289805

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

Criteria Provided
Multiple Submitters
No Conflicts

CA397837685

rs_121912652

5 SubmittersRCV000565601 RCV000785351 RCV002289838 RCV003767233

NM_000546.6(TP53):c.673-4C>G

SNV
Germline

Chr17:7674294

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Conflicting Classifications

CA658656528

rs_1555525586

4 SubmittersRCV000563494 RCV000695775 RCV002289823

NM_000546.6(TP53):c.548C>T (p.Ser183Leu)

SNV
Germline

Chr17:7675064

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Conflicting Classifications

CA397841206

rs_1555525970

3 SubmittersRCV000565655 RCV001363399 RCV002289784

NM_000546.6(TP53):c.532C>G (p.His178Asp)

SNV
Germline

Chr17:7675080

Pathogenic

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1

Reviewed By Expert Panel

CA397841387

rs_1064795203

5 SubmittersRCV000575494 RCV000633339 RCV002254704

NM_000546.6(TP53):c.493C>A (p.Gln165Lys)

SNV
Germline

Chr17:7675119

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
not specified

Criteria Provided
Conflicting Classifications

CA397841869

rs_730882001

4 SubmittersRCV000573450 RCV002530257 RCV004701662

NM_000546.6(TP53):c.470T>A (p.Val157Asp)

SNV
Germline

Chr17:7675142

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Conflicting Classifications

CA397842047

rs_1131691023

3 SubmittersRCV000561132 RCV000807881 RCV004024481

NM_000546.6(TP53):c.385G>A (p.Ala129Thr)

SNV
Germline

Chr17:7675227

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome

Criteria Provided
Conflicting Classifications

CA397842995

rs_1438095083

3 SubmittersRCV000567140 RCV002526838

NM_007194.4(CHEK2):c.908+5G>A

SNV
Germline

Chr22:28703500

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Li-Fraumeni syndrome 2

Criteria Provided
Conflicting Classifications

CA658656845

rs_1064796016

4 SubmittersRCV000562595 RCV001221575 RCV004776439

NM_000546.6(TP53):c.343C>A (p.His115Asn)

SNV
Germline

Chr17:7676026

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Conflicting Classifications

CA397844462

rs_1555526532

3 SubmittersRCV000576064 RCV000821053 RCV002289788

NM_000546.6(TP53):c.244C>G (p.Pro82Ala)

SNV
Germline

Chr17:7676125

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome

Criteria Provided
Conflicting Classifications

CA397845525

rs_1555526664

5 SubmittersRCV000573848 RCV002528018

NM_000546.6(TP53):c.198G>A (p.Met66Ile)

SNV
Germline

Chr17:7676171

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1
Li-Fraumeni syndrome

Criteria Provided
Conflicting Classifications

CA397846006

rs_1555526711

4 SubmittersRCV000565744 RCV002289791 RCV003621547

NM_000546.6(TP53):c.4G>A (p.Glu2Lys)

SNV
Germline

Chr17:7676591

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Condition: not provided
Li-Fraumeni syndrome 1

Criteria Provided
Conflicting Classifications

CA004009

rs_769884991

6 SubmittersRCV000579480 RCV000695387 RCV001755968 RCV002289853

NM_000546.6(TP53):c.920-17C>A

SNV
Germline

Chr17:7673625

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Condition: not provided
Breast and/or ovarian cancer
Li-Fraumeni syndrome 1

Criteria Provided
Conflicting Classifications

CA287486535

rs_911934766

6 SubmittersRCV000584286 RCV002061962 RCV001683597 RCV003492112 RCV002289877

NM_000546.6(TP53):c.96+12G>C

SNV
Germline

Chr17:7676370

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome

Criteria Provided
Conflicting Classifications

CA003522

rs_779577884

3 SubmittersRCV000582066 RCV002530809

NM_000546.6(TP53):c.73C>T (p.Leu25=)

SNV
Germline

Chr17:7676522

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome

Criteria Provided
Conflicting Classifications

CA497719631

rs_1555526988

2 SubmittersRCV000583961 RCV001853946

NM_000546.6(TP53):c.993+284C>T

SNV
Germline

Chr17:7673251

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1
TP53-related disorder

Criteria Provided
Conflicting Classifications

CA001038

rs_554738122

3 SubmittersRCV000583565 RCV000662812 RCV004745489

NM_000546.6(TP53):c.953C>T (p.Pro318Leu)

SNV
Germline

Chr17:7673575

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1
Li-Fraumeni syndrome

Criteria Provided
Conflicting Classifications

CA397835952

rs_1555524975

6 SubmittersRCV000584424 RCV002289878 RCV003767316

NM_000546.6(TP53):c.402T>C (p.Phe134=)

SNV
Germline

Chr17:7675210

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA497925734

rs_1555526278

4 SubmittersRCV000584017 RCV001448559 RCV002289865 RCV005000354

NM_000546.6(TP53):c.673-3T>C

SNV
Germline

Chr17:7674293

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Li-Fraumeni syndrome

Criteria Provided
Conflicting Classifications

CA624726688

rs_1214646363

4 SubmittersRCV000581448 RCV000605146 RCV001860105

NM_000546.6(TP53):c.1177G>A (p.Asp393Asn)

SNV
Germline

Chr17:7669614

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Conflicting Classifications

CA397829958

rs_1192921623

4 SubmittersRCV000584379 RCV001853944 RCV002289863

NM_000546.6(TP53):c.334G>A (p.Gly112Ser)

SNV
Germline

Chr17:7676035

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Conflicting Classifications

CA397844540

rs_1423803759

5 SubmittersRCV000581490 RCV001042212 RCV002289864

NM_007194.4(CHEK2):c.757A>T (p.Lys253Ter)

SNV
Germline

Chr22:28711944

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Li-Fraumeni syndrome 2

Criteria Provided
Multiple Submitters
No Conflicts

CA411103191

rs_786201896

4 SubmittersRCV000584130 RCV001386328 RCV001788295

NM_000546.6(TP53):c.831T>A (p.Cys277Ter)

SNV
Germline

Chr17:7673789

Pathogenic

Condition: not provided
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA397836898

rs_1057523347

4 SubmittersRCV000582104 RCV000793572 RCV004024646 RCV002431737

NM_000546.6(TP53):c.560-1G>C

SNV
Germline/somatic

Chr17:7674972

Pathogenic

Condition: not provided
Ovarian neoplasm
Rhabdomyosarcoma
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA397840948

rs_1202793339

6 SubmittersRCV000584518 RCV000785458 RCV001257521 RCV002350408 RCV001867897

NM_000546.6(TP53):c.318C>G (p.Ser106Arg)

SNV
Germline

Chr17:7676051

Conflicting classifications of pathogenicity

not specified
Li-Fraumeni syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA397844688

rs_1555526581

3 SubmittersRCV000582529 RCV001055662 RCV004719895

NM_000546.6(TP53):c.919+1G>T

SNV
Germline/somatic

Chr17:7673700

Likely pathogenic

Condition: not provided
Colorectal cancer
Li-Fraumeni syndrome 1

Criteria Provided
Single Submitter

CA397836242

3 SubmittersRCV000786817 RCV004813118 RCV004024666

NM_000546.6(TP53):c.27C>G (p.Ser9Arg)

SNV
Germline

Chr17:7676568

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Conflicting Classifications

CA003949

rs_757282628

3 SubmittersRCV000587100 RCV001016639 RCV002289886

NM_000546.6(TP53):c.782+1G>T

SNV
Germline/somatic

Chr17:7674180

Likely pathogenic

Li-Fraumeni syndrome
Ovarian neoplasm
Condition: not provided
Li-Fraumeni syndrome 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA397837531

rs_1555525429

5 SubmittersRCV000587342 RCV000785462 RCV000786822 RCV004024677 RCV004678753

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_000546.6(TP53):c.672+2T>A

SNV
Germline/somatic

Chr17:7674857

Likely pathogenic

Li-Fraumeni syndrome
Condition: not provided

Criteria Provided
Single Submitter

CA397839761

rs_1555525703

2 SubmittersRCV000609770 RCV001613395

NM_000546.6(TP53):c.782+6G>A

SNV
Germline

Chr17:7674175

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA287486810

rs_1008479744

5 SubmittersRCV000633399 RCV001176035 RCV001707837 RCV004782469

NM_000546.6(TP53):c.1064C>T (p.Ala355Val)

SNV
Germline

Chr17:7670645

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1
Adrenocortical carcinoma, hereditary

Criteria Provided
Conflicting Classifications

CA397832139

rs_1555524382

5 SubmittersRCV000633335 RCV001009801 RCV002289921 RCV004568384

NM_000546.6(TP53):c.947C>T (p.Pro316Leu)

SNV
Germline

Chr17:7673581

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Conflicting Classifications

CA397835981

rs_1555524979

3 SubmittersRCV000633395 RCV001019395 RCV002289935

NM_000546.6(TP53):c.631A>C (p.Thr211Pro)

SNV
Germline

Chr17:7674900

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA397840134

rs_1060501198

2 SubmittersRCV000633327 RCV002360526

NM_000546.6(TP53):c.499C>T (p.Gln167Ter)

SNV
Germline

Chr17:7675113

Pathogenic/Likely pathogenic

Li-Fraumeni syndrome
Condition: not provided
Li-Fraumeni syndrome 1
Hereditary cancer-predisposing syndrome
Adrenocortical carcinoma, hereditary

Criteria Provided
Multiple Submitters
No Conflicts

CA397841811

rs_1555526097

9 SubmittersRCV000633353 RCV000657587 RCV000663165 RCV001023383 RCV003471978

NM_000546.6(TP53):c.473G>T (p.Arg158Leu)

SNV
Germline

Chr17:7675139

Pathogenic/Likely pathogenic

Li-Fraumeni syndrome
Condition: not provided
Li-Fraumeni syndrome 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA397842028

rs_587782144

6 SubmittersRCV000633348 RCV001091169 RCV002289922 RCV002289923

NM_000546.6(TP53):c.375+2T>A

SNV
Germline

Chr17:7675992

Pathogenic/Likely pathogenic

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA397844133

rs_1555526469

3 SubmittersRCV000633362 RCV001021046 RCV002289925

NM_000546.6(TP53):c.229C>T (p.Pro77Ser)

SNV
Germline

Chr17:7676140

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Conflicting Classifications

CA397845619

rs_753085009

3 SubmittersRCV000633383 RCV001015102 RCV002289932

NM_000546.6(TP53):c.206C>T (p.Ala69Val)

SNV
Germline

Chr17:7676163

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Conflicting Classifications

CA287489112

rs_756233241

3 SubmittersRCV000633366 RCV001014310 RCV002289927

NM_000546.6(TP53):c.919+8A>C

SNV
Germline

Chr17:7673693

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
not specified

Criteria Provided
Conflicting Classifications

CA658798700

rs_1555525043

2 SubmittersRCV000633415 RCV003994053

NM_000546.6(TP53):c.75-8T>C

SNV
Germline

Chr17:7676411

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA658798709

rs_1555526938

2 SubmittersRCV000633410 RCV001766347

NM_000546.6(TP53):c.931A>C (p.Asn311His)

SNV
Germline

Chr17:7673597

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA397836105

rs_1555525007

3 SubmittersRCV000633334 RCV000774977

NM_000546.6(TP53):c.293C>T (p.Pro98Leu)

SNV
Germline

Chr17:7676076

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA397844920

rs_1245723119

4 SubmittersRCV000633328 RCV002438664 RCV003314629

NM_000546.6(TP53):c.993+1G>A

SNV
Germline/somatic

Chr17:7673534

Pathogenic/Likely pathogenic

Li-Fraumeni syndrome
Ovarian neoplasm
Condition: not provided
Li-Fraumeni syndrome 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA397835645

rs_11575997

6 SubmittersRCV000633368 RCV000785467 RCV000786816 RCV002289928 RCV002289929

NM_000546.6(TP53):c.766A>C (p.Thr256Pro)

SNV
Germline

Chr17:7674197

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Conflicting Classifications

CA397837741

rs_587781433

4 SubmittersRCV000633389 RCV001026685 RCV002289933

NM_000546.6(TP53):c.752T>A (p.Ile251Asn)

SNV
Germline/somatic

Chr17:7674211

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Li-Fraumeni syndrome 1
Acute myeloid leukemia

Criteria Provided
Conflicting Classifications

CA397838901

rs_730882027

4 SubmittersRCV000633360 RCV004025427 RCV003228966

NM_000546.6(TP53):c.653T>G (p.Val218Gly)

SNV
Germline

Chr17:7674878

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Li-Fraumeni syndrome 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA397839930

rs_1555525743

4 SubmittersRCV000633350 RCV002289924 RCV001175697

NM_000546.6(TP53):c.35C>T (p.Pro12Leu)

SNV
Germline

Chr17:7676560

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Conflicting Classifications

CA397849144

rs_1482497533

5 SubmittersRCV000772527 RCV000633363 RCV002289926

NM_007194.4(CHEK2):c.339C>G (p.Tyr113Ter)

SNV
Germline

Chr22:28725348

Pathogenic

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 2
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA323033395

rs_905674348

7 SubmittersRCV000635735 RCV000771629 RCV001814204 RCV003483696

NM_000546.6(TP53):c.1146A>G (p.Lys382=)

SNV
Germline

Chr17:7669645

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_1567540280

3 SubmittersRCV000690251 RCV002458224

NM_000546.6(TP53):c.782+3C>T

SNV
Germline

Chr17:7674178

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Conflicting Classifications

rs_1555525425

5 SubmittersRCV000685199 RCV000840660 RCV002289959 RCV002289958

NM_000546.6(TP53):c.534C>A (p.His178Gln)

SNV
Germline

Chr17:7675078

Pathogenic/Likely pathogenic

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1555526001

3 SubmittersRCV000698003 RCV001023959 RCV002307599

NM_000546.6(TP53):c.110C>T (p.Ser37Phe)

SNV
Germline

Chr17:7676259

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_1567557177

3 SubmittersRCV000688189 RCV004026290

NM_000546.6(TP53):c.242C>T (p.Thr81Ile)

SNV
Germline

Chr17:7676127

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome

Criteria Provided
Conflicting Classifications

rs_1567556386

3 SubmittersRCV002458325 RCV000707346

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

Criteria Provided
Conflicting Classifications

rs_1567556618

4 SubmittersRCV000698086 RCV001183319 RCV002289975

NM_000546.6(TP53):c.151G>T (p.Glu51Ter)

SNV
Germline/somatic

Chr17:7676218

Pathogenic

Li-Fraumeni syndrome
Neoplasm

Criteria Provided
Single Submitter

rs_1567556930

2 SubmittersRCV000689241 RCV004669077

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
Li-Fraumeni syndrome 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_1353016807

4 SubmittersRCV000690309 RCV002225719 RCV002289967 RCV002289968

NM_000546.6(TP53):c.950A>G (p.Gln317Arg)

SNV
Germline

Chr17:7673578

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
TP53-related disorder

Criteria Provided
Conflicting Classifications

rs_1159579789

4 SubmittersRCV000704730 RCV002369956 RCV003424300

NM_000546.6(TP53):c.310C>T (p.Gln104Ter)

SNV
Germline/somatic

Chr17:7676059

Pathogenic

Li-Fraumeni syndrome
Ovarian neoplasm
Li-Fraumeni syndrome 1
Neoplasm

Criteria Provided
Multiple Submitters
No Conflicts

rs_1567555934

4 SubmittersRCV000686865 RCV000785541 RCV004026248 RCV004669075

NM_000546.6(TP53):c.304A>T (p.Thr102Ser)

SNV
Germline

Chr17:7676065

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Conflicting Classifications

rs_1567555968

4 SubmittersRCV000706015 RCV000771730 RCV002289983

NM_000546.6(TP53):c.219G>A (p.Val73=)

SNV
Germline

Chr17:7676150

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_1567556473

2 SubmittersRCV000705498 RCV004026692

NM_000546.6(TP53):c.211C>G (p.Pro71Ala)

SNV
Germline

Chr17:7676158

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Conflicting Classifications

rs_1567556576

6 SubmittersRCV000700185 RCV001805814 RCV002289977

NM_000546.6(TP53):c.1118A>G (p.Lys373Arg)

SNV
Germline

Chr17:7669673

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Conflicting Classifications

rs_1567540504

6 SubmittersRCV000700219 RCV000771476 RCV002289978

NM_000546.6(TP53):c.814G>C (p.Val272Leu)

SNV
Germline

Chr17:7673806

Pathogenic/Likely pathogenic

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_121912657

2 SubmittersRCV000696673 RCV002422533

NM_000546.6(TP53):c.686G>C (p.Cys229Ser)

SNV
Germline

Chr17:7674277

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_1064793603

3 SubmittersRCV000706342 RCV004788140

NM_000546.6(TP53):c.378C>G (p.Tyr126Ter)

SNV
Germline/somatic

Chr17:7675234

Pathogenic/Likely pathogenic

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Gastric cancer
Adrenocortical carcinoma, hereditary
Adrenal cortex carcinoma
Li-Fraumeni syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_1567554500

6 SubmittersRCV000702157 RCV002343542 RCV003165877 RCV003472237 RCV003999725 RCV004026584

NM_000546.6(TP53):c.718A>G (p.Ser240Gly)

SNV
Germline

Chr17:7674245

Pathogenic/Likely pathogenic

Li-Fraumeni syndrome
Squamous cell carcinoma of the head and neck
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_1567549584

4 SubmittersRCV000709404 RCV000989712 RCV002289987 RCV002289986

NM_000546.6(TP53):c.819T>C (p.Arg273=)

SNV
Germline

Chr17:7673801

Conflicting classifications of pathogenicity

Condition: not provided
Li-Fraumeni syndrome

Criteria Provided
Conflicting Classifications

rs_1567547965

2 SubmittersRCV000760101 RCV003621570

NM_000546.6(TP53):c.489C>G (p.Tyr163Ter)

SNV
Germline

Chr17:7675123

Pathogenic

Condition: not provided
Li-Fraumeni syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1567553246

2 SubmittersRCV000759375 RCV003509597

NM_000546.6(TP53):c.1061A>G (p.Gln354Arg)

SNV
Germline

Chr17:7670648

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome 1
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome

Criteria Provided
Conflicting Classifications

rs_752142489

5 SubmittersRCV002290022 RCV000774782 RCV001856096

NM_000546.6(TP53):c.873G>C (p.Lys291Asn)

SNV
Germline

Chr17:7673747

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1
Li-Fraumeni syndrome

Criteria Provided
Conflicting Classifications

rs_372613518

4 SubmittersRCV000774787 RCV002290023 RCV000820689

NM_000546.6(TP53):c.868C>G (p.Arg290Gly)

SNV
Germline

Chr17:7673752

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_770374782

3 SubmittersRCV002534085 RCV000773647

NM_000546.6(TP53):c.625A>G (p.Arg209Gly)

SNV
Germline

Chr17:7674906

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Conflicting Classifications

rs_1429743956

6 SubmittersRCV001237388 RCV000771676 RCV002290014

NM_000546.6(TP53):c.317G>T (p.Ser106Ile)

SNV
Germline

Chr17:7676052

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Conflicting Classifications

rs_1567555883

4 SubmittersRCV000774504 RCV002290020

NM_000546.6(TP53):c.101C>G (p.Pro34Arg)

SNV
Germline

Chr17:7676268

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1
Li-Fraumeni syndrome

Criteria Provided
Conflicting Classifications

rs_1322947350

4 SubmittersRCV000772948 RCV002290017 RCV002536641

NM_000546.6(TP53):c.672+1G>T

SNV
Germline/somatic

Chr17:7674858

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Ovarian neoplasm
Li-Fraumeni syndrome
Breast carcinoma
Li-Fraumeni syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_863224499

8 SubmittersRCV000786829 RCV000776760 RCV000785529 RCV001269151 RCV001644809 RCV002290025

NM_000546.6(TP53):c.919+1G>A

SNV
Germline/somatic

Chr17:7673700

Pathogenic

Li-Fraumeni syndrome 1
Li-Fraumeni syndrome
Adrenocortical carcinoma, hereditary
Condition: not provided
Hereditary cancer-predisposing syndrome
TP53-related disorder

Reviewed By Expert Panel

rs_1131691039

8 SubmittersRCV000782136 RCV000991150 RCV003992389 RCV001578272 RCV003307417 RCV004797621

NM_000546.6(TP53):c.1045G>T (p.Glu349Ter)

SNV
Germline/somatic

Chr17:7670664

Pathogenic/Likely pathogenic

Ovarian neoplasm
Condition: not provided
Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1567541975

4 SubmittersRCV000785303 RCV001269697 RCV003117574 RCV004678823

NM_000546.6(TP53):c.1036G>T (p.Glu346Ter)

SNV
Germline/somatic

Chr17:7670673

Pathogenic

Ovarian neoplasm
Li-Fraumeni syndrome

Criteria Provided
Single Submitter

rs_1567542019

2 SubmittersRCV000785313 RCV001235302

NM_000546.6(TP53):c.856G>T (p.Glu286Ter)

SNV
Germline/somatic

Chr17:7673764

Pathogenic

Li-Fraumeni syndrome
Neoplasm
Ovarian neoplasm

Criteria Provided
Single Submitter

rs_786201059

3 SubmittersRCV001380072 RCV004669110 RCV000785476

NM_000546.6(TP53):c.840A>C (p.Arg280Ser)

SNV
Germline/somatic

Chr17:7673780

Pathogenic/Likely pathogenic

Ovarian neoplasm
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_1567547687

3 SubmittersRCV000785449 RCV002442608 RCV004027346

NM_000546.6(TP53):c.817C>G (p.Arg273Gly)

SNV
Germline/somatic

Chr17:7673803

Pathogenic/Likely pathogenic

Ovarian neoplasm
Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1
12 conditions
TP53-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

rs_121913343

7 SubmittersRCV000785275 RCV000814073 RCV001027249 RCV002290030 RCV002487616 RCV004797622

NM_000546.6(TP53):c.808T>C (p.Phe270Leu)

SNV
Germline/somatic

Chr17:7673812

Conflicting classifications of pathogenicity

Ovarian neoplasm
Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Breast and/or ovarian cancer
Li-Fraumeni syndrome 1
Adrenocortical carcinoma, hereditary

Criteria Provided
Conflicting Classifications

rs_1057519988

6 SubmittersRCV000785520 RCV001321223 RCV002422673 RCV003492171 RCV004027353 RCV004569494

NM_000546.6(TP53):c.711G>T (p.Met237Ile)

SNV
Germline/somatic

Chr17:7674252

Pathogenic/Likely pathogenic

Ovarian neoplasm
Hereditary cancer-predisposing syndrome
Adrenocortical carcinoma, hereditary
Li-Fraumeni syndrome
Malignant tumor of urinary bladder

Criteria Provided
Multiple Submitters
No Conflicts

rs_587782664

5 SubmittersRCV000785508 RCV002370058 RCV003472321 RCV003509608 RCV003332249

NM_000546.6(TP53):c.661G>T (p.Glu221Ter)

SNV
Germline/somatic

Chr17:7674870

Pathogenic

Ovarian neoplasm
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1
Adrenal cortex carcinoma

Criteria Provided
Multiple Submitters
No Conflicts

rs_786201592

4 SubmittersRCV000785468 RCV000794857 RCV004027347 RCV004001540

NM_000546.6(TP53):c.660T>A (p.Tyr220Ter)

SNV
Germline/somatic

Chr17:7674871

Pathogenic

Ovarian neoplasm
Li-Fraumeni syndrome 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1567551150

3 SubmittersRCV000785516 RCV004027351 RCV004949898

NM_000546.6(TP53):c.592G>T (p.Glu198Ter)

SNV
Germline/somatic

Chr17:7674939

Pathogenic

Ovarian neoplasm
Li-Fraumeni syndrome

Criteria Provided
Single Submitter

rs_1567551854

2 SubmittersRCV000785326 RCV002535726

NM_000546.6(TP53):c.548C>G (p.Ser183Ter)

SNV
Germline/somatic

Chr17:7675064

Pathogenic

Ovarian neoplasm
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_1555525970

3 SubmittersRCV000785319 RCV001382449 RCV004027340

NM_000546.6(TP53):c.538G>T (p.Glu180Ter)

SNV
Somatic

Chr17:7675074

Pathogenic

Ovarian neoplasm
Adrenal cortex carcinoma
Li-Fraumeni syndrome 1

Criteria Provided
Single Submitter

rs_879253911

3 SubmittersRCV000785283 RCV004001539 RCV004027338

NM_000546.6(TP53):c.511G>T (p.Glu171Ter)

SNV
Germline/somatic

Chr17:7675101

Pathogenic

Ovarian neoplasm
Li-Fraumeni syndrome

Criteria Provided
Single Submitter

rs_587781845

2 SubmittersRCV000785509 RCV000792928

NM_000546.6(TP53):c.467G>C (p.Arg156Pro)

SNV
Germline/somatic

Chr17:7675145

Conflicting classifications of pathogenicity

Ovarian neoplasm
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_371524413

4 SubmittersRCV000785506 RCV001022886 RCV002536879 RCV004777866

NM_000546.6(TP53):c.437G>A (p.Trp146Ter)

SNV
Germline/somatic

Chr17:7675175

Pathogenic

Ovarian neoplasm
Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1
Adrenal cortex carcinoma

Criteria Provided
Multiple Submitters
No Conflicts

rs_1206165503

7 SubmittersRCV000785547 RCV001055632 RCV001022390 RCV002290032 RCV004001542

NM_000546.6(TP53):c.430C>T (p.Gln144Ter)

SNV
Germline/somatic

Chr17:7675182

Pathogenic

Li-Fraumeni syndrome 1
Ovarian neoplasm
Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Neoplasm

Criteria Provided
Multiple Submitters
No Conflicts

rs_757274881

5 SubmittersRCV003485642 RCV000785285 RCV001388107 RCV002332573 RCV004669108

NM_000546.6(TP53):c.396G>T (p.Lys132Asn)

SNV
Germline/somatic

Chr17:7675216

Pathogenic/Likely pathogenic

Li-Fraumeni syndrome
Condition: not provided
Ovarian neoplasm
Li-Fraumeni syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_866775781

4 SubmittersRCV000795096 RCV003238212 RCV000785513 RCV004027350

NM_000546.6(TP53):c.326T>G (p.Phe109Cys)

SNV
Somatic

Chr17:7676043

Likely pathogenic

Ovarian neoplasm
Li-Fraumeni syndrome 1

Criteria Provided
Single Submitter

rs_1064796722

2 SubmittersRCV000785545 RCV004027354

NM_000546.6(TP53):c.298C>T (p.Gln100Ter)

SNV
Germline/somatic

Chr17:7676071

Pathogenic/Likely pathogenic

Ovarian neoplasm
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Malignant tumor of urinary bladder
Li-Fraumeni syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_1567555994

6 SubmittersRCV000785339 RCV002256497 RCV002535727 RCV003332248 RCV004027342

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

Criteria Provided
Single Submitter

rs_11575997

4 SubmittersRCV000785504 RCV000786815 RCV001062298 RCV004001541

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_1555525367

5 SubmittersRCV000785242 RCV000786819 RCV001377112 RCV004669107 RCV004949896

NM_000546.6(TP53):c.782+1G>A

SNV
Germline/somatic

Chr17:7674180

Pathogenic

Ovarian neoplasm
Li-Fraumeni syndrome
Condition: not provided

Criteria Provided
Single Submitter

rs_1555525429

3 SubmittersRCV000785278 RCV001063778 RCV001528108

NM_000546.6(TP53):c.560-1G>A

SNV
Germline/somatic

Chr17:7674972

Pathogenic

Ovarian neoplasm
Hereditary cancer-predisposing syndrome
Adrenocortical carcinoma, hereditary
Neoplasm
Condition: not provided
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_1202793339

7 SubmittersRCV000785507 RCV001024314 RCV003472320 RCV004669111 RCV000786832 RCV002535728 RCV004027349

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_1567555445

7 SubmittersRCV000785320 RCV000786839 RCV001021044 RCV001385498 RCV002290031

NM_000546.6(TP53):c.783-2A>C

SNV
Germline

Chr17:7673839

Pathogenic

Condition: not provided
Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1060501207

3 SubmittersRCV000786821 RCV001203239 RCV002406716

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_1555525585

3 SubmittersRCV000786826 RCV002370059 RCV002535740

NM_000546.6(TP53):c.672+2T>G

SNV
Germline

Chr17:7674857

Pathogenic

Condition: not provided
Li-Fraumeni syndrome

Criteria Provided
Single Submitter

rs_1555525703

2 SubmittersRCV000786827 RCV003509611

NM_000546.6(TP53):c.672G>T (p.Glu224Asp)

SNV
Germline/somatic

Chr17:7674859

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Neoplasm
Li-Fraumeni syndrome

Criteria Provided
Conflicting Classifications

rs_267605076

4 SubmittersRCV000786831 RCV004789183 RCV004669114 RCV002536884

NM_000546.6(TP53):c.559+2T>A

SNV
Germline

Chr17:7675051

Pathogenic

Condition: not provided
Li-Fraumeni syndrome

Criteria Provided
Single Submitter

rs_1597369404

2 SubmittersRCV000786833 RCV002536885

NM_000546.6(TP53):c.559G>C (p.Gly187Arg)

SNV
Germline

Chr17:7675053

Conflicting classifications of pathogenicity

Condition: not provided
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_776167460

4 SubmittersRCV000786835 RCV001302589 RCV002292581 RCV002343642

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_1567555445

6 SubmittersRCV000786840 RCV000804919 RCV001021045 RCV002290035

NM_000546.6(TP53):c.1152G>A (p.Met384Ile)

SNV
Germline

Chr17:7669639

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_1597345344

3 SubmittersRCV000792615 RCV002343647

NM_000546.6(TP53):c.1120G>T (p.Gly374Cys)

SNV
Germline

Chr17:7669671

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_587781858

4 SubmittersRCV000824393 RCV002434031

NM_000546.6(TP53):c.1104C>A (p.His368Gln)

SNV
Germline

Chr17:7669687

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Conflicting Classifications

rs_1289241865

3 SubmittersRCV000813556 RCV001009899 RCV002290459

NM_000546.6(TP53):c.1045G>C (p.Glu349Gln)

SNV
Germline

Chr17:7670664

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_1567541975

2 SubmittersRCV000814404 RCV004028816

NM_000546.6(TP53):c.1039G>A (p.Ala347Thr)

SNV
Germline/somatic

Chr17:7670670

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Malignant tumor of urinary bladder

Criteria Provided
Conflicting Classifications

rs_1597349147

5 SubmittersRCV000820398 RCV001017117 RCV003141850 RCV003389250 RCV003332266

NM_000546.6(TP53):c.1036G>A (p.Glu346Lys)

SNV
Germline

Chr17:7670673

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_1567542019

3 SubmittersRCV000801312 RCV003338808

NM_000546.6(TP53):c.986C>T (p.Thr329Ile)

SNV
Germline

Chr17:7673542

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1
not specified

Criteria Provided
Conflicting Classifications

rs_969930693

7 SubmittersRCV000808332 RCV001183900 RCV002290454 RCV001824889

NM_000546.6(TP53):c.928A>G (p.Asn310Asp)

SNV
Germline

Chr17:7673600

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_1597359691

2 SubmittersRCV000806895 RCV001019109

NM_000546.6(TP53):c.920C>T (p.Ala307Val)

SNV
Germline

Chr17:7673608

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_1457582183

3 SubmittersRCV000824567 RCV002372364

NM_000546.6(TP53):c.761T>G (p.Ile254Ser)

SNV
Germline/somatic

Chr17:7674202

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Lung sarcomatoid carcinoma
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_1330865474

4 SubmittersRCV000816469 RCV003322618 RCV004789221

NM_000546.6(TP53):c.725G>C (p.Cys242Ser)

SNV
Germline

Chr17:7674238

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Conflicting Classifications

rs_121912655

2 SubmittersRCV000801823 RCV004028076

NM_000546.6(TP53):c.461G>T (p.Gly154Val)

SNV
Germline

Chr17:7675151

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_762846821

2 SubmittersRCV000807194 RCV003338813

NM_000546.6(TP53):c.380C>A (p.Ser127Tyr)

SNV
Germline

Chr17:7675232

Pathogenic

Li-Fraumeni syndrome
Li-Fraumeni syndrome 1
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

rs_730881999

5 SubmittersRCV000813247 RCV001527086 RCV002352420

NM_000546.6(TP53):c.346T>G (p.Ser116Ala)

SNV
Germline

Chr17:7676023

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1
Condition: not provided
Adrenocortical carcinoma, hereditary

Criteria Provided
Conflicting Classifications

rs_989692988

5 SubmittersRCV000804275 RCV001020381 RCV002290445 RCV003478506 RCV004569609

NM_000546.6(TP53):c.319T>G (p.Tyr107Asp)

SNV
Germline

Chr17:7676050

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Conflicting Classifications

rs_368771578

2 SubmittersRCV000794731 RCV004027500

NM_000546.6(TP53):c.257C>T (p.Ala86Val)

SNV
Germline

Chr17:7676112

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Conflicting Classifications

rs_1597374264

4 SubmittersRCV000810093 RCV001525077 RCV002290457

NM_000546.6(TP53):c.133C>G (p.Leu45Val)

SNV
Germline

Chr17:7676236

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_1597375092

2 SubmittersRCV000816907 RCV002381838

NM_000546.6(TP53):c.118A>G (p.Met40Val)

SNV
Germline

Chr17:7676251

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
not specified
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Conflicting Classifications

rs_1597375159

4 SubmittersRCV000797308 RCV002265887 RCV002290438 RCV002290437

NM_000546.6(TP53):c.98C>T (p.Ser33Phe)

SNV
Germline

Chr17:7676271

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_1555526832

2 SubmittersRCV000804893 RCV004028198

NM_000546.6(TP53):c.35C>G (p.Pro12Arg)

SNV
Germline

Chr17:7676560

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Li-Fraumeni syndrome 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_1482497533

4 SubmittersRCV000821845 RCV002290470 RCV002259033

NM_000546.6(TP53):c.22C>A (p.Pro8Thr)

SNV
Germline

Chr17:7676573

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Conflicting Classifications

rs_1597376589

4 SubmittersRCV000822860 RCV001015108 RCV001257498

NM_000546.6(TP53):c.97-1G>A

SNV
Germline/somatic

Chr17:7676273

Pathogenic

Neoplasm
Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Reviewed By Expert Panel

rs_1597375294

5 SubmittersRCV004669116 RCV000791520 RCV001019679 RCV001725199

NM_000546.6(TP53):c.993+5T>G

SNV
Germline

Chr17:7673530

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Squamous cell carcinoma of the head and neck
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Conflicting Classifications

rs_1310956961

4 SubmittersRCV000818422 RCV000989704 RCV001019914 RCV002290464

NM_000546.6(TP53):c.375+1G>C

SNV
Germline/somatic

Chr17:7675993

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1
Neoplasm
Li-Fraumeni syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1567555445

4 SubmittersRCV002256548 RCV002290471 RCV004669145 RCV000822481

NM_000546.6(TP53):c.97-1G>T

SNV
Germline

Chr17:7676273

Pathogenic/Likely pathogenic

Li-Fraumeni syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_1597375294

3 SubmittersRCV000812930 RCV003141828

NM_000546.6(TP53):c.559+1G>T

SNV
Germline/somatic

Chr17:7675052

Pathogenic/Likely pathogenic

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Li-Fraumeni syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_1131691042

6 SubmittersRCV000804747 RCV001183083 RCV001580378 RCV002290446

NM_000546.6(TP53):c.97-11C>G

SNV
Germline

Chr17:7676283

Pathogenic

Li-Fraumeni syndrome
Adrenocortical carcinoma, hereditary

Criteria Provided
Multiple Submitters
No Conflicts

rs_769697802

2 SubmittersRCV000791519 RCV003472330

NM_000546.6(TP53):c.783-10T>C

SNV
Germline

Chr17:7673847

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_377590379

4 SubmittersRCV000923204 RCV001188668

NM_000546.6(TP53):c.428T>C (p.Val143Ala)

SNV
Germline

Chr17:7675184

Pathogenic

Li-Fraumeni syndrome
Li-Fraumeni syndrome 1

Reviewed By Expert Panel

rs_1555526241

3 SubmittersRCV000991143 RCV004030120

NM_000546.6(TP53):c.1177G>C (p.Asp393His)

SNV
Germline

Chr17:7669614

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Conflicting Classifications

rs_1192921623

3 SubmittersRCV001010148 RCV001862761 RCV002290527

NM_000546.6(TP53):c.1157A>G (p.Lys386Arg)

SNV
Germline

Chr17:7669634

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome

Criteria Provided
Conflicting Classifications

rs_1597345314

2 SubmittersRCV001010036 RCV003621583

NM_000546.6(TP53):c.1130C>T (p.Thr377Ile)

SNV
Germline

Chr17:7669661

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Conflicting Classifications

rs_1597345549

3 SubmittersRCV001017399 RCV001860863 RCV002290535

NM_000546.6(TP53):c.1016A>G (p.Glu339Gly)

SNV
Germline

Chr17:7670693

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Condition: not provided
Li-Fraumeni syndrome 1

Criteria Provided
Conflicting Classifications

rs_1237829645

4 SubmittersRCV001017010 RCV001225635 RCV001284720 RCV002290533

NM_000546.6(TP53):c.946C>T (p.Pro316Ser)

SNV
Germline

Chr17:7673582

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1
Li-Fraumeni syndrome

Criteria Provided
Conflicting Classifications

rs_772773208

5 SubmittersRCV001019376 RCV002290539 RCV001041188

NM_000546.6(TP53):c.913A>T (p.Lys305Ter)

SNV
Germline

Chr17:7673707

Pathogenic

Hereditary cancer-predisposing syndrome
Gastric cancer
Li-Fraumeni syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1597360340

3 SubmittersRCV001018912 RCV003160179 RCV003509646

NM_000546.6(TP53):c.865C>T (p.Leu289Phe)

SNV
Germline

Chr17:7673755

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome

Criteria Provided
Conflicting Classifications

rs_1555525154

3 SubmittersRCV001018140 RCV001297549

NM_000546.6(TP53):c.757A>G (p.Thr253Ala)

SNV
Germline

Chr17:7674206

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1597364185

2 SubmittersRCV001026581 RCV002551972

NM_000546.6(TP53):c.542G>C (p.Arg181Pro)

SNV
Germline

Chr17:7675070

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_397514495

4 SubmittersRCV001024094 RCV001206963 RCV002290550

NM_000546.6(TP53):c.455C>G (p.Pro152Arg)

SNV
Germline

Chr17:7675157

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_587782705

3 SubmittersRCV001022693 RCV001383776 RCV002290546

NM_000546.6(TP53):c.385G>T (p.Ala129Ser)

SNV
Germline

Chr17:7675227

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome

Criteria Provided
Conflicting Classifications

rs_1438095083

2 SubmittersRCV001021309 RCV001861015

NM_000546.6(TP53):c.379T>A (p.Ser127Thr)

SNV
Germline

Chr17:7675233

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Conflicting Classifications

rs_1597371694

4 SubmittersRCV001021179 RCV001038263 RCV002290541

NM_000546.6(TP53):c.309C>G (p.Tyr103Ter)

SNV
Germline

Chr17:7676060

Pathogenic

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_1597373901

4 SubmittersRCV001018609 RCV001044605 RCV002290537

NM_000546.6(TP53):c.303A>G (p.Lys101=)

SNV
Germline

Chr17:7676066

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_878854069

3 SubmittersRCV001018247 RCV001860899 RCV003478631

NM_000546.6(TP53):c.193A>G (p.Arg65Gly)

SNV
Germline

Chr17:7676176

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome

Criteria Provided
Conflicting Classifications

rs_1555526721

2 SubmittersRCV001013757 RCV001873250

NM_000546.6(TP53):c.183T>A (p.Asp61Glu)

SNV
Germline

Chr17:7676186

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1
Li-Fraumeni syndrome
Adrenocortical carcinoma, hereditary

Criteria Provided
Conflicting Classifications

rs_1597374797

4 SubmittersRCV001013317 RCV002290529 RCV001202193 RCV004569919

NM_000546.6(TP53):c.179C>T (p.Pro60Leu)

SNV
Germline

Chr17:7676190

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1597374820

3 SubmittersRCV001013219 RCV001057841 RCV001776080

NM_000546.6(TP53):c.140C>G (p.Pro47Arg)

SNV
Germline

Chr17:7676229

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome

Criteria Provided
Conflicting Classifications

rs_1597375038

3 SubmittersRCV001011436 RCV001242916

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

Criteria Provided
Conflicting Classifications

rs_587781866

4 SubmittersRCV001009836 RCV001860613 RCV002290526

NM_000546.6(TP53):c.29T>G (p.Val10Gly)

SNV
Germline

Chr17:7676566

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1
Li-Fraumeni syndrome

Criteria Provided
Conflicting Classifications

rs_1418778734

4 SubmittersRCV001017901 RCV002290536 RCV001233678

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
Li-Fraumeni syndrome 2

Criteria Provided
Conflicting Classifications

rs_1601805361

5 SubmittersRCV001025715 RCV001030686 RCV001759918 RCV001873398 RCV004527409

NM_000546.6(TP53):c.1119G>T (p.Lys373Asn)

SNV
Germline

Chr17:7669672

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_1342613419

3 SubmittersRCV001041270 RCV003584803

NM_000546.6(TP53):c.1090G>T (p.Ala364Ser)

SNV
Germline

Chr17:7670619

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome

Criteria Provided
Conflicting Classifications

rs_2072906212

3 SubmittersRCV002445283 RCV001052811

NM_000546.6(TP53):c.1048C>G (p.Leu350Val)

SNV
Germline

Chr17:7670661

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Adrenocortical carcinoma, hereditary
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_768046010

5 SubmittersRCV001059236 RCV003462579 RCV002402425

NM_000546.6(TP53):c.961A>T (p.Lys321Ter)

SNV
Germline

Chr17:7673567

Pathogenic

Li-Fraumeni syndrome

Criteria Provided
Single Submitter

rs_2073154382

1 SubmittersRCV001044813

NM_000546.6(TP53):c.761T>A (p.Ile254Asn)

SNV
Germline

Chr17:7674202

Pathogenic/Likely pathogenic

Li-Fraumeni syndrome
Li-Fraumeni syndrome 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1330865474

3 SubmittersRCV001061736 RCV004030433 RCV004950217

NM_000546.6(TP53):c.758C>T (p.Thr253Ile)

SNV
Germline

Chr17:7674205

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Conflicting Classifications

rs_1555525465

3 SubmittersRCV001039079 RCV003307815 RCV004031088

NM_000546.6(TP53):c.695T>A (p.Ile232Asn)

SNV
Germline

Chr17:7674268

Pathogenic/Likely pathogenic

Li-Fraumeni syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_587781589

2 SubmittersRCV001054089

NM_000546.6(TP53):c.674T>A (p.Val225Asp)

SNV
Germline

Chr17:7674289

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_2073269361

2 SubmittersRCV001055197 RCV002374925

NM_000546.6(TP53):c.615T>G (p.Tyr205Ter)

SNV
Germline

Chr17:7674916

Pathogenic

Li-Fraumeni syndrome

Criteria Provided
Single Submitter

rs_786202222

1 SubmittersRCV001040734

NM_000546.6(TP53):c.559G>A (p.Gly187Ser)

SNV
Germline

Chr17:7675053

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_776167460

3 SubmittersRCV001042375 RCV002348357

NM_000546.6(TP53):c.515T>A (p.Val172Asp)

SNV
Germline

Chr17:7675097

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
TP53-related disorder
Li-Fraumeni syndrome 1

Criteria Provided
Conflicting Classifications

rs_1131691021

4 SubmittersRCV001037957 RCV002337102 RCV003396634 RCV004031050

NM_000546.6(TP53):c.472C>G (p.Arg158Gly)

SNV
Germline

Chr17:7675140

Pathogenic

Li-Fraumeni syndrome

Criteria Provided
Single Submitter

rs_587780068

1 SubmittersRCV001061572

NM_000546.6(TP53):c.425C>T (p.Pro142Leu)

SNV
Germline

Chr17:7675187

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_779196500

2 SubmittersRCV001071731 RCV004789397

NM_000546.6(TP53):c.215C>T (p.Pro72Leu)

SNV
Germline

Chr17:7676154

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_1042522

2 SubmittersRCV001071888 RCV004950256

NM_000546.6(TP53):c.184G>A (p.Glu62Lys)

SNV
Germline

Chr17:7676185

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_1567556752

2 SubmittersRCV001065401 RCV002411588

NM_000546.6(TP53):c.122A>G (p.Asp41Gly)

SNV
Germline

Chr17:7676247

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_2073486528

2 SubmittersRCV001070511 RCV004678951

NM_000546.6(TP53):c.7G>A (p.Glu3Lys)

SNV
Germline

Chr17:7676588

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Li-Fraumeni syndrome 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_2073524362

5 SubmittersRCV001064070 RCV002290580 RCV001525558

NM_000546.6(TP53):c.96+1G>A

SNV
Germline/somatic

Chr17:7676381

Likely pathogenic

Li-Fraumeni syndrome
Condition: not provided
Li-Fraumeni syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_1131691003

3 SubmittersRCV001067173 RCV001673009 RCV004030642

NM_000546.6(TP53):c.402T>A (p.Phe134Leu)

SNV
Germline

Chr17:7675210

Conflicting classifications of pathogenicity

Condition: not provided
Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Conflicting Classifications

rs_1555526278

4 SubmittersRCV001091170 RCV001862690 RCV002375011 RCV004031969

NM_000546.6(TP53):c.*1132C>T

SNV
Germline

Chr17:7668477

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome 1
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1044102603

2 SubmittersRCV001123114 RCV002511047

NM_000546.6(TP53):c.470T>G (p.Val157Gly)

SNV
Germline

Chr17:7675142

Conflicting classifications of pathogenicity

Breast and/or ovarian cancer
Li-Fraumeni syndrome 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_1131691023

3 SubmittersRCV001170827 RCV004032925 RCV004032926

NM_000546.6(TP53):c.991C>T (p.Gln331Ter)

SNV
Germline/somatic

Chr17:7673537

Pathogenic

Li-Fraumeni syndrome
Malignant tumor of urinary bladder
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1
Neoplasm
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1597359130

7 SubmittersRCV003509657 RCV003332297 RCV001183200 RCV004033087 RCV004671235 RCV004720079

NM_000546.6(TP53):c.703A>G (p.Asn235Asp)

SNV
Germline/somatic

Chr17:7674260

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1
Li-Fraumeni syndrome
Neoplasm

Criteria Provided
Conflicting Classifications

rs_786204145

5 SubmittersRCV001177820 RCV004033013 RCV001875860 RCV004671234

NM_000546.6(TP53):c.684C>G (p.Asp228Glu)

SNV
Germline

Chr17:7674279

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Conflicting Classifications

rs_2073267220

4 SubmittersRCV001189231 RCV001862990 RCV002290625

NM_000546.6(TP53):c.534C>G (p.His178Gln)

SNV
Germline

Chr17:7675078

Pathogenic/Likely pathogenic

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1555526001

2 SubmittersRCV001218247 RCV002348728

NM_000546.6(TP53):c.484A>T (p.Ile162Phe)

SNV
Germline

Chr17:7675128

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_2073377305

2 SubmittersRCV001219440 RCV004950364

NM_000546.6(TP53):c.356C>G (p.Ala119Gly)

SNV
Germline

Chr17:7676013

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_2073451331

2 SubmittersRCV001220864 RCV004032401

NM_000546.6(TP53):c.311A>T (p.Gln104Leu)

SNV
Germline

Chr17:7676058

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_2073460244

2 SubmittersRCV001216528 RCV002322052

NM_000546.6(TP53):c.182A>G (p.Asp61Gly)

SNV
Germline

Chr17:7676187

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_1460793472

4 SubmittersRCV001222415 RCV002411820

NM_000546.6(TP53):c.172C>A (p.Pro58Thr)

SNV
Germline

Chr17:7676197

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_2073479616

2 SubmittersRCV001218096 RCV004950360

NM_000546.6(TP53):c.985A>G (p.Thr329Ala)

SNV
Germline

Chr17:7673543

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_2073149675

2 SubmittersRCV001208476 RCV002379789

NM_000546.6(TP53):c.490A>T (p.Lys164Ter)

SNV
Germline

Chr17:7675122

Pathogenic

Li-Fraumeni syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_879254249

2 SubmittersRCV001204080 RCV004033601

NM_000546.6(TP53):c.379T>C (p.Ser127Pro)

SNV
Germline/somatic

Chr17:7675233

Pathogenic/Likely pathogenic

Li-Fraumeni syndrome
Li-Fraumeni syndrome 1
Hereditary cancer-predisposing syndrome
Neoplasm

Criteria Provided
Multiple Submitters
No Conflicts

rs_1597371694

4 SubmittersRCV001202791 RCV004033549 RCV002365911 RCV004671246

NM_000546.6(TP53):c.260C>T (p.Pro87Leu)

SNV
Germline

Chr17:7676109

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome

Criteria Provided
Conflicting Classifications

rs_2073467677

2 SubmittersRCV004789477 RCV001211923

NM_000546.6(TP53):c.100C>T (p.Pro34Ser)

SNV
Germline

Chr17:7676269

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_786201968

3 SubmittersRCV001204709 RCV002436787 RCV004584862

NM_000546.6(TP53):c.96+2T>A

SNV
Germline

Chr17:7676380

Likely pathogenic

Li-Fraumeni syndrome

Criteria Provided
Single Submitter

rs_2073505429

1 SubmittersRCV001219251

NM_000546.6(TP53):c.1016A>T (p.Glu339Val)

SNV
Germline

Chr17:7670693

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_1237829645

2 SubmittersRCV001233000 RCV003166427

NM_000546.6(TP53):c.796G>T (p.Gly266Ter)

SNV
Germline/somatic

Chr17:7673824

Pathogenic

Li-Fraumeni syndrome
Lung adenocarcinoma

Criteria Provided
Multiple Submitters
No Conflicts

rs_1057519990

2 SubmittersRCV001227077 RCV003129744

NM_000546.6(TP53):c.794T>A (p.Leu265Gln)

SNV
Germline

Chr17:7673826

Pathogenic/Likely pathogenic

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_879253942

3 SubmittersRCV001225765 RCV002418782

NM_000546.6(TP53):c.721T>A (p.Ser241Thr)

SNV
Germline

Chr17:7674242

Pathogenic/Likely pathogenic

Li-Fraumeni syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_1057520002

2 SubmittersRCV001232537 RCV004033172

NM_000546.6(TP53):c.626G>A (p.Arg209Lys)

SNV
Germline/somatic

Chr17:7674905

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

rs_2073332791

2 SubmittersRCV001236518 RCV001270279

NM_000546.6(TP53):c.850A>G (p.Thr284Ala)

SNV
Germline

Chr17:7673770

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_1204379654

4 SubmittersRCV001239284 RCV004034606

NM_000546.6(TP53):c.738G>T (p.Met246Ile)

SNV
Germline

Chr17:7674225

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_1019340046

2 SubmittersRCV001243824 RCV004951428

NM_000546.6(TP53):c.28G>T (p.Val10Phe)

SNV
Germline

Chr17:7676567

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_535274413

3 SubmittersRCV001243833 RCV003294139

NM_000546.6(TP53):c.1129A>C (p.Thr377Pro)

SNV
Germline

Chr17:7669662

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Conflicting Classifications

rs_774269719

2 SubmittersRCV004789499 RCV001253109

NM_000546.6(TP53):c.610G>T (p.Glu204Ter)

SNV
Germline/somatic

Chr17:7674921

Pathogenic

Lip and oral cavity carcinoma
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_2073336758

3 SubmittersRCV001255667 RCV003166582 RCV004035354

NM_000546.6(TP53):c.272G>A (p.Trp91Ter)

SNV
Germline

Chr17:7676097

Pathogenic/Likely pathogenic

Li-Fraumeni syndrome
Adrenocortical carcinoma, hereditary

Criteria Provided
Multiple Submitters
No Conflicts

rs_2073465664

3 SubmittersRCV001258110 RCV003473842

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

Criteria Provided
Conflicting Classifications

rs_1567547687

4 SubmittersRCV001270277 RCV002447244 RCV003509664 RCV004035437

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

rs_267605077

3 SubmittersRCV001270266 RCV001324043 RCV004035436

NM_000546.6(TP53):c.874A>G (p.Lys292Glu)

SNV
Germline

Chr17:7673746

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_2073181505

3 SubmittersRCV001303524 RCV003584884

NM_000546.6(TP53):c.464C>T (p.Thr155Ile)

SNV
Germline

Chr17:7675148

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_786202752

2 SubmittersRCV001302824 RCV004036257

NM_000546.6(TP53):c.825T>A (p.Cys275Ter)

SNV
Germline

Chr17:7673795

Pathogenic

Li-Fraumeni syndrome 1

Criteria Provided
Single Submitter

rs_1555525279

1 SubmittersRCV001310213

NM_000546.6(TP53):c.1179C>G (p.Asp393Glu)

SNV
Germline

Chr17:7669612

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_2072829931

2 SubmittersRCV001326918 RCV002341680

NM_000546.6(TP53):c.1027G>C (p.Glu343Gln)

SNV
Germline

Chr17:7670682

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_375573770

4 SubmittersRCV001314316 RCV002384393 RCV004774395

NM_000546.6(TP53):c.1020G>A (p.Met340Ile)

SNV
Germline

Chr17:7670689

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_1463722976

2 SubmittersRCV001319688 RCV004951525

NM_000546.6(TP53):c.875A>C (p.Lys292Thr)

SNV
Germline

Chr17:7673745

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_121912663

2 SubmittersRCV001321508 RCV004951533

NM_000546.6(TP53):c.476C>A (p.Ala159Asp)

SNV
Germline

Chr17:7675136

Pathogenic/Likely pathogenic

Li-Fraumeni syndrome
Prostate cancer, hereditary, 1
Li-Fraumeni syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_1555526131

3 SubmittersRCV001326770 RCV003483816 RCV004035219

NM_000546.6(TP53):c.1064C>G (p.Ala355Gly)

SNV
Germline

Chr17:7670645

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
not specified

Criteria Provided
Conflicting Classifications

rs_1555524382

3 SubmittersRCV001351201 RCV003169742 RCV004596447

NM_000546.6(TP53):c.904G>A (p.Gly302Arg)

SNV
Germline

Chr17:7673716

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_863224686

2 SubmittersRCV001352238 RCV002377500

NM_000546.6(TP53):c.623A>T (p.Asp208Val)

SNV
Germline

Chr17:7674908

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_1464727668

2 SubmittersRCV001338967 RCV002368117

NM_000546.6(TP53):c.74+3G>A

SNV
Germline

Chr17:7676518

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_1229638201

2 SubmittersRCV001337851 RCV002384451

NM_000546.6(TP53):c.472C>A (p.Arg158Ser)

SNV
Germline

Chr17:7675140

Pathogenic

Li-Fraumeni syndrome

Criteria Provided
Single Submitter

rs_587780068

1 SubmittersRCV001379294

NM_000546.6(TP53):c.75-1G>A

SNV
Germline

Chr17:7676404

Likely pathogenic

Li-Fraumeni syndrome

Criteria Provided
Single Submitter

rs_2151045740

1 SubmittersRCV001379766

NM_007194.4(CHEK2):c.684-2A>G

SNV
Germline

Chr22:28712019

Pathogenic/Likely pathogenic

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Bone osteosarcoma
Familial cancer of breast
Malignant tumor of prostate
Colorectal cancer
Li-Fraumeni syndrome 2
Hereditary breast ovarian cancer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_2053419665

8 SubmittersRCV001377776 RCV002368214 RCV002499777 RCV004764801

NM_000546.6(TP53):c.958A>T (p.Lys320Ter)

SNV
Germline

Chr17:7673570

Pathogenic

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_2151011624

2 SubmittersRCV001389384 RCV002384552

NM_000546.6(TP53):c.702C>G (p.Tyr234Ter)

SNV
Germline

Chr17:7674261

Pathogenic

Li-Fraumeni syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_2151021924

2 SubmittersRCV001381122 RCV004037649

NM_000546.6(TP53):c.321C>G (p.Tyr107Ter)

SNV
Germline

Chr17:7676048

Pathogenic

Li-Fraumeni syndrome
Condition: not provided
Li-Fraumeni syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_770776262

3 SubmittersRCV001386369 RCV003321833 RCV004037681

NM_000546.6(TP53):c.376-9T>A

SNV
Germline

Chr17:7675245

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
not specified
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_2151034304

4 SubmittersRCV001400454 RCV003321837 RCV003584921

NM_000546.6(TP53):c.920-9C>T

SNV
Germline

Chr17:7673617

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_1265260122

2 SubmittersRCV001496536 RCV002258291

NM_000546.6(TP53):c.672+8T>G

SNV
Germline

Chr17:7674851

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Breast and/or ovarian cancer

Criteria Provided
Conflicting Classifications

rs_763373602

2 SubmittersRCV001494475 RCV001799092

NM_000546.6(TP53):c.366G>A (p.Val122=)

SNV
Germline

Chr17:7676003

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_1374112390

2 SubmittersRCV001478901 RCV004951822

NM_000546.6(TP53):c.560-2A>C

SNV
Germline/somatic

Chr17:7674973

Pathogenic

Condition: not provided
Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_1427441061

4 SubmittersRCV001550216 RCV002032580 RCV002290721 RCV002290720

NM_000546.6(TP53):c.993+2T>C

SNV
Germline/somatic

Chr17:7673533

Pathogenic/Likely pathogenic

Condition: not provided
Li-Fraumeni syndrome
Adrenocortical carcinoma, hereditary

Criteria Provided
Multiple Submitters
No Conflicts

rs_1597359053

3 SubmittersRCV001553782 RCV003621596 RCV004571059

NM_000546.6(TP53):c.672+2T>C

SNV
Germline/somatic

Chr17:7674857

Pathogenic

Condition: not provided
Li-Fraumeni syndrome

Criteria Provided
Single Submitter

rs_1555525703

2 SubmittersRCV001578274 RCV002570814

NM_000546.6(TP53):c.376-1G>T

SNV
Germline/somatic

Chr17:7675237

Pathogenic

Condition: not provided
Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
TP53-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

rs_868137297

4 SubmittersRCV001580379 RCV001882697 RCV003375345 RCV004797631

NM_000546.6(TP53):c.673-1G>C

SNV
Germline/somatic

Chr17:7674291

Pathogenic/Likely pathogenic

Condition: not provided
Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_878854073

5 SubmittersRCV001614459 RCV001873819 RCV003298947 RCV004039541

NM_000546.6(TP53):c.771G>A (p.Leu257=)

SNV
Germline

Chr17:7674192

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome

Criteria Provided
Conflicting Classifications

rs_2151020056

3 SubmittersRCV001768395 RCV002405312 RCV003621607

NM_000546.6(TP53):c.489C>A (p.Tyr163Ter)

SNV
Germline

Chr17:7675123

Pathogenic

Li-Fraumeni syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_1567553246

2 SubmittersRCV001923859 RCV004044131

NM_000546.6(TP53):c.147T>G (p.Asp49Glu)

SNV
Germline

Chr17:7676222

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_786201148

2 SubmittersRCV001999673 RCV004785449

NM_000546.6(TP53):c.751A>T (p.Ile251Phe)

SNV
Germline

Chr17:7674212

Likely pathogenic

Li-Fraumeni syndrome

Criteria Provided
Single Submitter

rs_730882007

1 SubmittersRCV002043568

NM_000546.6(TP53):c.865C>A (p.Leu289Ile)

SNV
Germline

Chr17:7673755

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_1555525154

2 SubmittersRCV001958047 RCV004946914

NM_000546.6(TP53):c.781A>G (p.Ser261Gly)

SNV
Germline

Chr17:7674182

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_2151019863

2 SubmittersRCV001892660 RCV004686697

NM_000546.6(TP53):c.823T>G (p.Cys275Gly)

SNV
Germline

Chr17:7673797

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Conflicting Classifications

rs_1057519983

3 SubmittersRCV001945198 RCV003289221 RCV004043418

NM_000546.6(TP53):c.1100+2T>A

SNV
Germline

Chr17:7670607

Likely pathogenic

Li-Fraumeni syndrome

Criteria Provided
Single Submitter

rs_2150993637

1 SubmittersRCV002032317

NM_000546.6(TP53):c.649G>T (p.Val217Leu)

SNV
Germline

Chr17:7674882

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_35163653

2 SubmittersRCV001881329 RCV002361164

NM_000546.6(TP53):c.892G>C (p.Glu298Gln)

SNV
Germline

Chr17:7673728

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_201744589

2 SubmittersRCV001991580 RCV004785442

NM_000546.6(TP53):c.-29+1G>C

SNV
Germline

Chr17:7687376

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_2151082372

2 SubmittersRCV002031560 RCV002441237

NM_000546.6(TP53):c.981T>A (p.Tyr327Ter)

SNV
Germline

Chr17:7673547

Pathogenic

Li-Fraumeni syndrome

Criteria Provided
Single Submitter

rs_879254077

1 SubmittersRCV001874295

NM_000546.6(TP53):c.182A>T (p.Asp61Val)

SNV
Germline

Chr17:7676187

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_1460793472

2 SubmittersRCV002041814 RCV004946762

NM_000546.6(TP53):c.124G>A (p.Asp42Asn)

SNV
Germline

Chr17:7676245

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_756847009

3 SubmittersRCV001975531 RCV004042155

NM_000546.6(TP53):c.632C>T (p.Thr211Ile)

SNV
Germline

Chr17:7674899

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Condition: not provided
Li-Fraumeni syndrome 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_2073331490

4 SubmittersRCV002022697 RCV003481246 RCV004046067 RCV004681393

NM_000546.6(TP53):c.810T>A (p.Phe270Leu)

SNV
Germline

Chr17:7673810

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_1057519987

2 SubmittersRCV001940898 RCV004042022

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
Li-Fraumeni syndrome 2

Criteria Provided
Multiple Submitters
No Conflicts

rs_756949505

5 SubmittersRCV001994743 RCV002458883 RCV002267643 RCV003136370

NM_000546.6(TP53):c.79C>G (p.Pro27Ala)

SNV
Germline

Chr17:7676399

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_922736614

2 SubmittersRCV002035792 RCV002423240

NM_000546.6(TP53):c.1112C>A (p.Ser371Tyr)

SNV
Germline

Chr17:7669679

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_2150988837

2 SubmittersRCV001995780 RCV003339869

NM_000546.6(TP53):c.378C>A (p.Tyr126Ter)

SNV
Germline

Chr17:7675234

Pathogenic

Li-Fraumeni syndrome
Prostate cancer, hereditary, 1

Criteria Provided
Single Submitter

rs_1567554500

2 SubmittersRCV001994856 RCV003483865

NM_000546.6(TP53):c.233C>T (p.Ala78Val)

SNV
Germline

Chr17:7676136

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_876658527

2 SubmittersRCV001912917 RCV002449555

NM_000546.6(TP53):c.154C>T (p.Gln52Ter)

SNV
Germline

Chr17:7676215

Pathogenic

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_2151042795

3 SubmittersRCV001958596 RCV002258341 RCV002290817

NM_000546.6(TP53):c.1109A>C (p.Lys370Thr)

SNV
Germline

Chr17:7669682

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_2150988865

2 SubmittersRCV002014214 RCV002458991

NM_000546.6(TP53):c.322G>T (p.Gly108Cys)

SNV
Germline

Chr17:7676047

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_587782461

2 SubmittersRCV002006397 RCV004785436

NM_000546.6(TP53):c.622G>T (p.Asp208Tyr)

SNV
Germline/somatic

Chr17:7674909

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Lung adenocarcinoma

Criteria Provided
Conflicting Classifications

rs_1597368376

2 SubmittersRCV002042272 RCV003128818

NM_000546.6(TP53):c.440T>A (p.Val147Asp)

SNV
Germline

Chr17:7675172

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Adrenocortical carcinoma, hereditary
Li-Fraumeni syndrome 1

Criteria Provided
Conflicting Classifications

rs_1453167097

3 SubmittersRCV002051460 RCV003464164 RCV004038887

NM_000546.6(TP53):c.485T>A (p.Ile162Asn)

SNV
Germline

Chr17:7675127

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_587780069

2 SubmittersRCV001909548 RCV003339812

NM_000546.6(TP53):c.726C>A (p.Cys242Ter)

SNV
Germline

Chr17:7674237

Pathogenic

Li-Fraumeni syndrome

Criteria Provided
Single Submitter

rs_375874539

1 SubmittersRCV001983049

NM_000546.6(TP53):c.466C>G (p.Arg156Gly)

SNV
Germline

Chr17:7675146

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_563378859

2 SubmittersRCV002021337 RCV002337157

NM_000546.6(TP53):c.383C>G (p.Pro128Arg)

SNV
Germline

Chr17:7675229

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002299889 RCV003340480

NM_000546.6(TP53):c.406C>T (p.Gln136Ter)

SNV
Germline

Chr17:7675206

Pathogenic

Li-Fraumeni syndrome
Adrenocortical carcinoma, hereditary
Li-Fraumeni syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV002569348 RCV003475387 RCV004067553

NM_000546.6(TP53):c.331C>G (p.Leu111Val)

SNV
Germline

Chr17:7676038

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
not specified

Criteria Provided
Conflicting Classifications

3 SubmittersRCV002454753 RCV003775586 RCV004596538

NM_000546.6(TP53):c.37C>G (p.Pro13Ala)

SNV
Germline

Chr17:7676558

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome

Criteria Provided
Conflicting Classifications

3 SubmittersRCV002363952 RCV003775735

NM_000546.6(TP53):c.376T>C (p.Tyr126His)

SNV
Germline

Chr17:7675236

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002351076 RCV003094357

NM_000546.6(TP53):c.653T>A (p.Val218Glu)

SNV
Germline

Chr17:7674878

Likely pathogenic

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002364323 RCV004054380

NM_000546.6(TP53):c.528C>A (p.Cys176Ter)

SNV
Germline

Chr17:7675084

Pathogenic

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002344496 RCV003327303

NM_000546.6(TP53):c.643A>T (p.Ser215Cys)

SNV
Germline

Chr17:7674888

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002361765 RCV003103297

NM_000546.6(TP53):c.754C>G (p.Leu252Val)

SNV
Germline

Chr17:7674209

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002393970 RCV003509732

NM_000546.6(TP53):c.761T>C (p.Ile254Thr)

SNV
Germline/somatic

Chr17:7674202

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Acute myeloid leukemia
Li-Fraumeni syndrome 1
Li-Fraumeni syndrome

Criteria Provided
Multiple Submitters
No Conflicts

5 SubmittersRCV002396262 RCV002509835 RCV003454197 RCV003509733

NM_000546.6(TP53):c.711G>C (p.Met237Ile)

SNV
Germline

Chr17:7674252

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002367440 RCV004055277

NM_000546.6(TP53):c.850A>C (p.Thr284Pro)

SNV
Germline/somatic

Chr17:7673770

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Neoplasm

Criteria Provided
Conflicting Classifications

3 SubmittersRCV002414414 RCV003621639 RCV004673673

NM_000546.6(TP53):c.930C>T (p.Asn310=)

SNV
Germline

Chr17:7673598

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002371564 RCV003621641

NM_000546.6(TP53):c.158G>T (p.Trp53Leu)

SNV
Germline

Chr17:7676211

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002398408 RCV003621650

NM_000546.6(TP53):c.1101C>T (p.Ser367=)

SNV
Germline

Chr17:7669690

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002433009 RCV003621660

NM_000546.6(TP53):c.221C>G (p.Ala74Gly)

SNV
Germline

Chr17:7676148

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002420116 RCV003098730

NM_000546.6(TP53):c.256G>C (p.Ala86Pro)

SNV
Germline

Chr17:7676113

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome

Criteria Provided
Conflicting Classifications

3 SubmittersRCV002452757 RCV003101984

NM_000546.6(TP53):c.281C>A (p.Ser94Ter)

SNV
Germline

Chr17:7676088

Pathogenic

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002441793 RCV003621665

NM_000546.6(TP53):c.309C>A (p.Tyr103Ter)

SNV
Germline

Chr17:7676060

Pathogenic

Li-Fraumeni syndrome
Condition: not provided
Li-Fraumeni syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV003041278 RCV003321971 RCV004070149

NM_000546.6(TP53):c.517G>C (p.Val173Leu)

SNV
Germline/somatic

Chr17:7675095

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Primary intracranial sarcoma, DICER1-mutant

Criteria Provided
Conflicting Classifications

3 SubmittersRCV002596262 RCV004069069 RCV004698434

NM_000546.6(TP53):c.475G>A (p.Ala159Thr)

SNV
Germline

Chr17:7675137

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

3 SubmittersRCV002600127 RCV003585285

NM_000546.6(TP53):c.987C>T (p.Thr329=)

SNV
Germline

Chr17:7673541

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

3 SubmittersRCV002796559 RCV004999812

NM_000546.6(TP53):c.394A>T (p.Lys132Ter)

SNV
Germline

Chr17:7675218

Pathogenic

Li-Fraumeni syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV002838608

NM_000546.6(TP53):c.41T>A (p.Leu14Gln)

SNV
Germline

Chr17:7676554

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002871404 RCV004948813

NM_000546.6(TP53):c.339C>A (p.Phe113Leu)

SNV
Germline

Chr17:7676030

Likely pathogenic

Li-Fraumeni syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003049541

NM_000546.6(TP53):c.1051A>T (p.Lys351Ter)

SNV
Somatic

Chr17:7670658

Pathogenic

Lung adenocarcinoma
Li-Fraumeni syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003129624 RCV004245991

NM_000546.6(TP53):c.782+2T>C

SNV
Unknown

Chr17:7674179

Likely pathogenic

Li-Fraumeni syndrome 1

Criteria Provided
Single Submitter

1 SubmittersRCV003140387

NM_000546.6(TP53):c.672+1G>C

SNV
Germline

Chr17:7674858

Pathogenic/Likely pathogenic

Condition: not provided
Li-Fraumeni syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003222898 RCV004285584

NM_000546.6(TP53):c.325T>A (p.Phe109Ile)

SNV
Germline

Chr17:7676044

Likely pathogenic

Li-Fraumeni syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003387704 RCV004697289

NM_000546.6(TP53):c.702C>A (p.Tyr234Ter)

SNV
Germline/somatic

Chr17:7674261

Pathogenic

TP53-related disorder
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1
Neoplasm

Criteria Provided
Multiple Submitters
No Conflicts

4 SubmittersRCV003400069 RCV003621705 RCV004362837 RCV004673882

NM_007194.4(CHEK2):c.844C>G (p.His282Asp)

SNV
Germline

Chr22:28710008

Likely pathogenic

Li-Fraumeni syndrome 2

No Assertion Criteria Provided

1 SubmittersRCV003494019

NM_000546.6(TP53):c.1031T>G (p.Leu344Arg)

SNV
Germline

Chr17:7670678

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003510098 RCV004950464

NM_000546.6(TP53):c.853G>T (p.Glu285Ter)

SNV
Germline

Chr17:7673767

Pathogenic

Li-Fraumeni syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003510292

NM_000546.6(TP53):c.463A>C (p.Thr155Pro)

SNV
Germline

Chr17:7675149

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003510336 RCV004950481

NM_000546.6(TP53):c.919G>A (p.Ala307Thr)

SNV
Germline

Chr17:7673701

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

3 SubmittersRCV003622572 RCV004371656

NM_000546.6(TP53):c.694A>T (p.Ile232Phe)

SNV
Germline

Chr17:7674269

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003622857 RCV004950542

NM_000546.6(TP53):c.1037A>G (p.Glu346Gly)

SNV
Germline

Chr17:7670672

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003869778 RCV004676317

NM_000546.6(TP53):c.1023C>A (p.Phe341Leu)

SNV
Germline

Chr17:7670686

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV004016228 RCV004371957

NM_000546.6(TP53):c.812A>T (p.Glu271Val)

SNV
Unknown

Chr17:7673808

Likely pathogenic

Li-Fraumeni syndrome 1

Criteria Provided
Single Submitter

1 SubmittersRCV004437827

NM_000546.6(TP53):c.112C>T (p.Gln38Ter)

SNV
Unknown

Chr17:7676257

Pathogenic

Li-Fraumeni syndrome 1

Criteria Provided
Single Submitter

1 SubmittersRCV004440023

NM_000546.6(TP53):c.560-2A>G

SNV
Unknown

Chr17:7674973

Likely pathogenic

Li-Fraumeni syndrome 1

Criteria Provided
Single Submitter

1 SubmittersRCV004440060

NM_000546.6(TP53):c.782+1G>C

SNV
Unknown

Chr17:7674180

Likely pathogenic

Li-Fraumeni syndrome 1

Criteria Provided
Single Submitter

1 SubmittersRCV004440069

NM_000546.6(TP53):c.97-2A>C

SNV
Unknown

Chr17:7676274

Likely pathogenic

Li-Fraumeni syndrome 1

Criteria Provided
Single Submitter

1 SubmittersRCV004440133

NM_000546.6(TP53):c.560-1G>T

SNV
Unknown

Chr17:7674972

Likely pathogenic

Li-Fraumeni syndrome 1

Criteria Provided
Single Submitter

1 SubmittersRCV004440153

NM_000546.6(TP53):c.617T>A (p.Leu206Ter)

SNV
Unknown

Chr17:7674914

Pathogenic

Li-Fraumeni syndrome 1

Criteria Provided
Single Submitter

1 SubmittersRCV004440232

NM_000546.6(TP53):c.1100+1G>T

SNV
Unknown

Chr17:7670608

Likely pathogenic

Li-Fraumeni syndrome 1

Criteria Provided
Single Submitter

1 SubmittersRCV004440339

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

SNV
Unknown

Chr17:7673610

Likely pathogenic

Li-Fraumeni syndrome 1

Criteria Provided
Single Submitter

1 SubmittersRCV004440368

NM_000546.6(TP53):c.757A>C (p.Thr253Pro)

SNV
Germline

Chr17:7674206

Likely pathogenic

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV004442665 RCV004442664

NM_000546.6(TP53):c.874A>T (p.Lys292Ter)

SNV
Germline

Chr17:7673746

Pathogenic

Li-Fraumeni syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV004701202