Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_000546.6(TP53):c.742C>T (p.Arg248Trp)	SNV Germline/somatic	Chr17:7674221	Pathogenic	Li-Fraumeni syndrome 1 Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Condition: not provided Neoplasm Ovarian neoplasm Lip and oral cavity carcinoma Choroid plexus carcinoma Gallbladder cancer Breast and/or ovarian cancer Congenital fibrosarcoma Gastric cancer Malignant lymphoma, large B-cell, diffuse Adrenocortical carcinoma, hereditary Familial pancreatic carcinoma TP53-related disorder	Reviewed By Expert Panel	CA000382	rs_121912651	35 SubmittersRCV000013140 RCV000115735 RCV000168242 RCV000213057 RCV000438698 RCV000785485 RCV001255674 RCV001271100 RCV001374442 RCV003149569 RCV003105772 RCV003162243 RCV003318332 RCV003460463 RCV005357116 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 Ovarian neoplasm Li-Fraumeni syndrome	Criteria Provided Multiple Submitters No Conflicts	CA000406	rs_121912652	9 SubmittersRCV000013141 RCV000161071 RCV000582699 RCV000772122 RCV000785291 RCV000792895
NM_000546.6(TP53):c.733G>T (p.Gly245Cys)	SNV Germline/somatic	Chr17:7674230	Pathogenic	Li-Fraumeni syndrome 1 Condition: not provided Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Breast and/or ovarian cancer Neoplasm	Criteria Provided Multiple Submitters No Conflicts	CA000369	rs_28934575	8 SubmittersRCV000013142 RCV000161025 RCV000633397 RCV000492412 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 Neoplasm	Criteria Provided Multiple Submitters No Conflicts	CA000392	rs_28934571	12 SubmittersRCV000013145 RCV000013146 RCV000464372 RCV000579519 RCV000785491 RCV001270276 RCV001562247 RCV004018617 RCV003996089 RCV005229780
NM_000546.6(TP53):c.469G>T (p.Val157Phe)	SNV Germline/somatic	Chr17:7675143	Pathogenic/Likely pathogenic	Hepatocellular carcinoma Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Ovarian neoplasm Neoplasm Li-Fraumeni syndrome 1 Squamous cell carcinoma Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA000222	rs_121912654	9 SubmittersRCV000013147 RCV000566103 RCV000794324 RCV000785500 RCV004668716 RCV001823095 RCV003128570 RCV005229781
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 Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Ovarian neoplasm Condition: not provided Adrenocortical carcinoma, hereditary	Criteria Provided Multiple Submitters No Conflicts	CA000371	rs_121912656	11 SubmittersRCV000013149 RCV000206683 RCV000164465 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 Condition: not provided Li-Fraumeni syndrome 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 TP53-related disorder Adrenal cortex carcinoma Hereditary breast ovarian cancer syndrome Colorectal cancer 12 conditions	Reviewed By Expert Panel	CA000387	rs_11540652	44 SubmittersRCV000013150 RCV000115736 RCV000148913 RCV000235221 RCV000197114 RCV000424869 RCV000426606 RCV000763417 RCV000790860 RCV000785344 RCV001255671 RCV001257519 RCV001270275 RCV001554245 RCV001527465 RCV003162244 RCV003332079 RCV003466852 RCV004745155 RCV003996090 RCV004794335 RCV004813032 RCV005016259
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	6 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 Condition: not provided 12 conditions Neoplasm	Criteria Provided Multiple Submitters No Conflicts	CA000359	rs_28934573	11 SubmittersRCV000013154 RCV000013153 RCV000130168 RCV000559355 RCV000785290 RCV001255673 RCV002288485 RCV003114189 RCV002496336 RCV004668717
NM_000546.6(TP53):c.358A>T (p.Lys120Ter)	SNV Germline	Chr17:7676011	Pathogenic	Li-fraumeni-like syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Single Submitter	CA000132	rs_121912658	2 SubmittersRCV000013158 RCV005400693
NM_000546.6(TP53):c.844C>T (p.Arg282Trp)	SNV Germline/somatic	Chr17:7673776	Pathogenic/Likely pathogenic	Li-fraumeni-like syndrome Li-Fraumeni syndrome 1 Li-Fraumeni syndrome Condition: not provided Hereditary cancer-predisposing syndrome Squamous cell carcinoma of the head and neck Ovarian neoplasm Pleomorphic xanthoastrocytoma Astrocytoma, anaplastic Colorectal cancer Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype Adrenocortical carcinoma, hereditary Neoplasm TP53-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA000454	rs_28934574	34 SubmittersRCV000013161 RCV000144670 RCV000148905 RCV000236400 RCV000210145 RCV000441472 RCV000785546 RCV000722016 RCV001270278 RCV003315223 RCV004566738 RCV004668718 RCV004797589
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 Astrocytoma, anaplastic Atypical teratoid rhabdoid tumor Ovarian neoplasm Familial ovarian cancer Colorectal cancer Breast carcinoma Malignant tumor of urinary bladder 12 conditions Adrenocortical carcinoma, hereditary Gastric cancer TP53-related disorder See cases	Reviewed By Expert Panel	CA000367	rs_28934575	34 SubmittersRCV000013162 RCV000148909 RCV000154014 RCV000130147 RCV000144669 RCV000226657 RCV000588736 RCV000587017 RCV000785316 RCV001354825 RCV001270274 RCV001642222 RCV003332080 RCV002496337 RCV003460464 RCV003162245 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 Condition: not provided Squamous cell carcinoma of the head and neck Lung adenocarcinoma Neoplasm Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Ovarian neoplasm Malignant tumor of breast Familial cancer of breast Colorectal cancer Multiple myeloma Rhabdomyosarcoma Gastric cancer Adrenocortical carcinoma, hereditary Breast and/or ovarian cancer 12 conditions TP53-related disorder	Reviewed By Expert Panel	CA000434	rs_28934576	38 SubmittersRCV000013163 RCV000013164 RCV000254693 RCV000422097 RCV000431361 RCV000441169 RCV000463420 RCV000115738 RCV000785345 RCV001358389 RCV001527484 RCV001527470 RCV001257517 RCV003162246 RCV003466853 RCV003492292 RCV005003353 RCV004797590
NM_000546.6(TP53):c.974G>T (p.Gly325Val)	SNV Germline	Chr17:7673554	Conflicting classifications of pathogenicity	Familial colorectal cancer Non-Hodgkin lymphoma Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA000516	rs_121912659	8 SubmittersRCV000013166 RCV000013165 RCV000232570 RCV000131411 RCV001508433
NM_000546.6(TP53):c.839G>C (p.Arg280Thr)	SNV Germline/somatic	Chr17:7673781	Pathogenic/Likely pathogenic	Nasopharyngeal carcinoma Li-Fraumeni syndrome Acute myeloid leukemia Malignant tumor of urinary bladder Li-Fraumeni syndrome 1 Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA000445	rs_121912660	6 SubmittersRCV000013167 RCV000198779 RCV000423074 RCV003332081 RCV004018618 RCV002433452
NM_000546.6(TP53):c.451C>A (p.Pro151Thr)	SNV Germline/somatic	Chr17:7675161	Pathogenic/Likely pathogenic	Breast adenocarcinoma Hereditary cancer-predisposing syndrome Condition: not provided Li-Fraumeni syndrome Li-Fraumeni syndrome 1 Adrenocortical carcinoma, hereditary Rhabdomyosarcoma	Criteria Provided Multiple Submitters No Conflicts	CA000198	rs_28934874	8 SubmittersRCV000013168 RCV000130617 RCV000520731 RCV000691152 RCV002288486 RCV004566739 RCV001257524
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	10 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 Li-Fraumeni syndrome Condition: not provided Malignant tumor of esophagus Neoplasm Ovarian neoplasm Lip and oral cavity carcinoma Squamous cell carcinoma of the head and neck Familial cancer of breast Colorectal cancer Gastric cancer 12 conditions Adrenocortical carcinoma, hereditary TP53-related disorder	Reviewed By Expert Panel	CA000251	rs_28934578	33 SubmittersRCV000013173 RCV000131301 RCV000204931 RCV000213054 RCV000239398 RCV000421746 RCV000785352 RCV001255668 RCV001270268 RCV001527463 RCV001270269 RCV003162247 RCV002476956 RCV003466854 RCV004797760
NM_000546.6(TP53):c.1031T>C (p.Leu344Pro)	SNV Germline/somatic	Chr17:7670678	Likely pathogenic	Li-Fraumeni syndrome 1 Li-Fraumeni syndrome Adrenal cortex carcinoma Hereditary cancer-predisposing syndrome Adrenocortical carcinoma, hereditary	Reviewed By Expert Panel	CA000021	rs_121912662	7 SubmittersRCV000013174 RCV000991141 RCV003996091 RCV002390102 RCV003473083
NM_000546.6(TP53):c.412G>C (p.Ala138Pro)	SNV Germline	Chr17:7675200	Likely pathogenic	Li-Fraumeni syndrome 1 Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Condition: not provided	Reviewed By Expert Panel	CA000166	rs_28934875	5 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 Condition: not provided Breast neoplasm Li-Fraumeni syndrome 1 Adrenocortical carcinoma, hereditary Squamous cell carcinoma of the head and neck Hereditary breast ovarian cancer syndrome 12 conditions Gastric cancer TP53-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA000013	rs_121912664	25 SubmittersRCV000013178 RCV000128923 RCV000197240 RCV000481814 RCV000413754 RCV000576817 RCV001375632 RCV000989700 RCV002307364 RCV002496338 RCV003162248 RCV004797591
NM_000546.6(TP53):c.566C>T (p.Ala189Val)	SNV Germline	Chr17:7674965	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Familial colorectal cancer not specified Hereditary breast ovarian cancer syndrome Li-Fraumeni syndrome 1 Li-Fraumeni syndrome Condition: not provided Li-Fraumeni syndrome 1 Familial cancer of breast	Criteria Provided Conflicting Classifications	CA000270	rs_121912665	13 SubmittersRCV000132058 RCV000013182 RCV001192620 RCV001030736 RCV000144671 RCV000536677 RCV003476892 RCV005357117
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/somatic	Chr17:7673766	Pathogenic	ADRENOCORTICAL CARCINOMA, PEDIATRIC Choroid plexus carcinoma Li-Fraumeni syndrome Neoplasm	Criteria Provided Single Submitter	CA000463	rs_121912667	3 SubmittersRCV000013184 RCV000013185 RCV000813961 RCV005229782
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	5 SubmittersRCV000032610 RCV000692266 RCV004786286
NM_000546.6(TP53):c.31G>C (p.Glu11Gln)	SNV Germline	Chr17:7676564	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided 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 SubmittersRCV000161016 RCV000034640 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	8 SubmittersRCV000036529 RCV000255021 RCV000468537 RCV000492626 RCV003315555
NM_000546.6(TP53):c.586C>T (p.Arg196Ter)	SNV Germline/somatic	Chr17:7674945	Pathogenic	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Condition: not provided Ovarian neoplasm not specified Li-Fraumeni syndrome 1 TP53-related disorder Adrenocortical carcinoma, hereditary Familial cancer of breast Li-Fraumeni syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA000282	rs_397516435	21 SubmittersRCV000131510 RCV000205265 RCV000412710 RCV000785329 RCV001527464 RCV002288535 RCV004797592 RCV003473274 RCV005357264
NM_000546.6(TP53):c.637C>T (p.Arg213Ter)	SNV Germline/somatic	Chr17:7674894	Pathogenic	Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1 Condition: not provided Ovarian neoplasm Squamous cell carcinoma of the head and neck Familial cancer of breast Colorectal cancer TP53-related disorder Neoplasm	Criteria Provided Multiple Submitters No Conflicts	CA000301	rs_397516436	17 SubmittersRCV000036532 RCV000115730 RCV000144672 RCV000213050 RCV000785330 RCV001270263 RCV001270264 RCV001270265 RCV004797593 RCV005229850
NM_000546.6(TP53):c.817C>T (p.Arg273Cys)	SNV Germline/somatic	Chr17:7673803	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1 Li-Fraumeni syndrome Condition: not provided Prostate cancer Neoplasm Multiple myeloma Adrenocortical carcinoma, hereditary TP53-related disorder Ovarian neoplasm	Criteria Provided Multiple Submitters No Conflicts	CA000432	rs_121913343	26 SubmittersRCV000131966 RCV000144665 RCV000205625 RCV000254692 RCV000149051 RCV000431786 RCV004595896 RCV003466889 RCV004745172 RCV000785470
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 Li-Fraumeni syndrome 1 Familial cancer of breast Neoplasm	Criteria Provided Multiple Submitters No Conflicts	CA000500	rs_397516439	12 SubmittersRCV000036537 RCV000132190 RCV000483617 RCV000785489 RCV001798102 RCV002288536 RCV005357265 RCV005229851
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	10 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 12 conditions	Criteria Provided Conflicting Classifications	CA000284	rs_483352697	7 SubmittersRCV000087172 RCV001024636 RCV001523825 RCV002514536 RCV005016380
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_000546.6(TP53):c.887A>G (p.His296Arg)	SNV Somatic	Chr17:7673733	Likely pathogenic	Condition: not provided	No Assertion Criteria Provided	CA000476	rs_483352696	1 SubmittersRCV000087174
NM_000546.6(TP53):c.173C>G (p.Pro58Arg)	SNV Germline	Chr17:7676196	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome not specified Li-Fraumeni syndrome 1 Condition: not provided Li-Fraumeni syndrome Breast and/or ovarian cancer TP53-related disorder	Criteria Provided Conflicting Classifications	CA000061	rs_144386518	13 SubmittersRCV000115715 RCV000122181 RCV000662515 RCV000586104 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	12 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 12 conditions	Criteria Provided Conflicting Classifications	CA000214	rs_563378859	13 SubmittersRCV000115721 RCV000213051 RCV000232885 RCV000409094 RCV000764146 RCV002465516 RCV003467058 RCV005016392
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 Li-Fraumeni syndrome 1 Lip and oral cavity carcinoma not specified Hereditary breast ovarian cancer syndrome	Criteria Provided Conflicting Classifications	CA000225	rs_587780068	13 SubmittersRCV000115723 RCV000508084 RCV000533951 RCV002288596 RCV001255633 RCV005055584 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 Li-Fraumeni syndrome Li-Fraumeni syndrome 1 Ovarian neoplasm Adrenocortical carcinoma, hereditary Hereditary cancer-predisposing syndrome Neoplasm	Criteria Provided Multiple Submitters No Conflicts	CA000256	rs_587780070	11 SubmittersRCV000115726 RCV000555493 RCV000663095 RCV000785312 RCV003460828 RCV002288597 RCV004668781
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 Neoplasm	Criteria Provided Multiple Submitters No Conflicts	CA000278	rs_587780071	7 SubmittersRCV000115728 RCV001377420 RCV002288599 RCV002288598 RCV003997297 RCV005229909
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 Adrenocortical carcinoma, hereditary 12 conditions TP53-related disorder	Criteria Provided Conflicting Classifications	CA000288	rs_587780072	13 SubmittersRCV000115729 RCV000473040 RCV000563913 RCV001257499 RCV004567015 RCV005016394 RCV004724809
NM_000546.6(TP53):c.659A>G (p.Tyr220Cys)	SNV Germline/somatic	Chr17:7674872	Pathogenic	Hereditary cancer-predisposing syndrome Squamous cell carcinoma of the head and neck Condition: not provided Li-Fraumeni syndrome Ovarian neoplasm B-cell chronic lymphocytic leukemia 12 conditions Li-Fraumeni syndrome 1 Breast carcinoma Gastric cancer TP53-related disorder Adrenocortical carcinoma, hereditary Adrenal cortex carcinoma Neoplasm	Reviewed By Expert Panel	CA000315	rs_121912666	29 SubmittersRCV000115731 RCV000433936 RCV000213055 RCV000232050 RCV000785544 RCV001527468 RCV002490776 RCV001310212 RCV001579295 RCV003162539 RCV003407499 RCV003460829 RCV003997298 RCV004668782
NM_000546.6(TP53):c.701A>G (p.Tyr234Cys)	SNV Germline/somatic	Chr17:7674262	Pathogenic/Likely pathogenic	Li-Fraumeni syndrome Condition: not provided Hereditary cancer-predisposing syndrome Ovarian neoplasm Li-Fraumeni syndrome 1 Neoplasm	Criteria Provided Multiple Submitters No Conflicts	CA000337	rs_587780073	11 SubmittersRCV000200601 RCV000115732 RCV000492245 RCV000785536 RCV001808343 RCV005229910
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	17 SubmittersRCV000115742 RCV000122173 RCV000123100 RCV000409871 RCV000586196 RCV001030741 RCV003492490 RCV003945046
NM_000546.6(TP53):c.605G>A (p.Arg202His)	SNV Germline	Chr17:7674926	Conflicting classifications of pathogenicity	not specified Li-Fraumeni syndrome Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Malignant tumor of breast	Criteria Provided Conflicting Classifications	CA000289	rs_587778719	7 SubmittersRCV000122175 RCV000459232 RCV001030735 RCV000567735 RCV001358628
NM_000546.6(TP53):c.638G>A (p.Arg213Gln)	SNV Germline/somatic	Chr17:7674893	Pathogenic/Likely pathogenic	Li-Fraumeni syndrome not specified Hereditary cancer-predisposing syndrome Condition: not provided Li-Fraumeni syndrome 1 Poly (ADP-Ribose) polymerase inhibitor response Lip and oral cavity carcinoma Adrenocortical carcinoma, hereditary Breast and/or ovarian cancer TP53-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA000302	rs_587778720	25 SubmittersRCV000123099 RCV000122176 RCV000130072 RCV000420734 RCV000144664 RCV000626448 RCV001255672 RCV003460862 RCV001798386 RCV004745203
NM_000546.6(TP53):c.422G>A (p.Cys141Tyr)	SNV Germline/somatic	Chr17:7675190	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Ovarian neoplasm Li-Fraumeni syndrome Condition: not provided Li-Fraumeni syndrome 1 Neoplasm	Criteria Provided Multiple Submitters No Conflicts	CA000174	rs_587781288	8 SubmittersRCV000128975 RCV000785510 RCV000472876 RCV001582600 RCV002288619 RCV004668787
NM_000546.6(TP53):c.844C>G (p.Arg282Gly)	SNV Germline/somatic	Chr17:7673776	Pathogenic	Hereditary cancer-predisposing syndrome Condition: not provided Li-Fraumeni syndrome Ovarian neoplasm Li-Fraumeni syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA000453	rs_28934574	6 SubmittersRCV000129010 RCV004719707 RCV001380073 RCV000785299 RCV002288620
NM_000546.6(TP53):c.642T>G (p.His214Gln)	SNV Germline	Chr17:7674889	Conflicting classifications of pathogenicity	Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1 Condition: not provided Hereditary cancer not specified	Criteria Provided Conflicting Classifications	CA000305	rs_587781386	12 SubmittersRCV000195927 RCV000129218 RCV000410083 RCV001283869 RCV005600705 RCV002267869
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 1 Li-Fraumeni syndrome	Criteria Provided Conflicting Classifications	CA000102	rs_587781504	7 SubmittersRCV000129479 RCV000201000 RCV002288625 RCV000228756
NM_000546.6(TP53):c.842A>G (p.Asp281Gly)	SNV Germline	Chr17:7673778	Pathogenic	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1 Li-Fraumeni syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA000450	rs_587781525	6 SubmittersRCV000129516 RCV002288626 RCV000633367 RCV003237737
NM_000546.6(TP53):c.695T>C (p.Ile232Thr)	SNV Germline	Chr17:7674268	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome not specified Condition: not provided Li-Fraumeni syndrome	Criteria Provided Multiple Submitters No Conflicts	CA000331	rs_587781589	4 SubmittersRCV000129637 RCV000582737 RCV002510789 RCV005089636
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 not specified Condition: not provided Li-Fraumeni syndrome Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA000032	rs_587781663	7 SubmittersRCV000129812 RCV000581885 RCV001753512 RCV002512534 RCV002288630
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 Condition: not provided Li-Fraumeni syndrome Ovarian neoplasm Li-Fraumeni syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA000499	rs_587781702	7 SubmittersRCV000129871 RCV000421521 RCV001235868 RCV000785548 RCV002288632
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	7 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 Lip and oral cavity carcinoma 11 conditions Li-Fraumeni syndrome Li-Fraumeni syndrome 1 Breast and/or ovarian cancer TP53-related disorder Familial cancer of breast Adrenocortical carcinoma, hereditary Familial cancer of breast Li-Fraumeni syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA000423	rs_55832599	22 SubmittersRCV000130398 RCV000413074 RCV001255676 RCV000763416 RCV000538977 RCV002288637 RCV003149899 RCV004797597 RCV002247507 RCV003460927 RCV005359236
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_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 Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA000082	rs_201717599	3 SubmittersRCV000130694 RCV001303642 RCV002288640
NM_000546.6(TP53):c.473G>A (p.Arg158His)	SNV Germline	Chr17:7675139	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Condition: not provided Li-Fraumeni syndrome 1 Rhabdomyosarcoma Breast and/or ovarian cancer 12 conditions TP53-related disorder Adrenocortical carcinoma, hereditary	Criteria Provided Multiple Submitters No Conflicts	CA000227	rs_587782144	29 SubmittersRCV000130708 RCV000227859 RCV000255654 RCV000496787 RCV001257522 RCV003492603 RCV004796030 RCV004797598 RCV003461996
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 12 conditions	Criteria Provided Conflicting Classifications	CA000088	rs_587782148	7 SubmittersRCV000130712 RCV000478688 RCV000633343 RCV002247510 RCV005016445
NM_000546.6(TP53):c.391A>T (p.Asn131Tyr)	SNV Germline	Chr17:7675221	Pathogenic	Hereditary cancer-predisposing syndrome	Criteria Provided Single Submitter	CA000154	rs_587782160	1 SubmittersRCV000130751
NM_000546.6(TP53):c.644G>C (p.Ser215Thr)	SNV Germline	Chr17:7674887	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA000307	rs_587782177	4 SubmittersRCV000130796 RCV001058920 RCV002288641
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 Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA000027	rs_587782237	3 SubmittersRCV000130938 RCV001229943 RCV002288643
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 Li-Fraumeni syndrome Condition: not provided Ovarian neoplasm Li-Fraumeni syndrome 1 Lip and oral cavity carcinoma Hereditary breast ovarian cancer syndrome Lung adenocarcinoma Gastric cancer Neoplasm	Criteria Provided Multiple Submitters No Conflicts	CA000495	rs_121913344	20 SubmittersRCV000130997 RCV000232963 RCV000356380 RCV000785333 RCV001310214 RCV001255680 RCV002307404 RCV003322599 RCV003162584 RCV004668794
NM_000546.6(TP53):c.994-1G>A	SNV Germline	Chr17:7670716	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Condition: not provided Adrenocortical carcinoma, hereditary Li-Fraumeni syndrome Li-Fraumeni syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA000528	rs_587782272	7 SubmittersRCV000131124 RCV000786811 RCV003992194 RCV001380070 RCV002288645
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	6 SubmittersRCV000131246 RCV000724753 RCV001857457 RCV002288647
NM_000546.6(TP53):c.542G>A (p.Arg181His)	SNV Germline/somatic	Chr17:7675070	Pathogenic/Likely pathogenic	Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Condition: not provided Li-Fraumeni syndrome 1 Carcinoma of pancreas Squamous cell carcinoma of the head and neck Familial cancer of breast Hereditary breast ovarian cancer syndrome Adrenocortical carcinoma, hereditary TP53-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA000259	rs_397514495	27 SubmittersRCV000168247 RCV000131382 RCV000255239 RCV000576528 RCV001391195 RCV000989718 RCV001527471 RCV005089647 RCV003462011 RCV004745211
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_000546.6(TP53):c.1009C>T (p.Arg337Cys)	SNV Germline/somatic	Chr17:7670700	Pathogenic	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Ovarian neoplasm Li-Fraumeni syndrome 1 Condition: not provided Adrenocortical carcinoma, hereditary Neoplasm	Reviewed By Expert Panel	CA000010	rs_587782529	14 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 Condition: not provided not specified Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA000030	rs_35993958	10 SubmittersRCV000131746 RCV000195550 RCV001284721 RCV002267882 RCV005359280
NM_000546.6(TP53):c.541C>T (p.Arg181Cys)	SNV Germline/somatic	Chr17:7675071	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Condition: not provided Adrenocortical carcinoma, hereditary Familial cancer of breast Neoplasm	Criteria Provided Conflicting Classifications	CA000257	rs_587782596	8 SubmittersRCV000131943 RCV000168292 RCV000236276 RCV003474780 RCV004544301 RCV005229969
NM_000546.6(TP53):c.427G>A (p.Val143Met)	SNV Germline	Chr17:7675185	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Li-Fraumeni syndrome 1 Breast neoplasm Malignant tumor of breast Condition: not provided Adrenocortical carcinoma, hereditary 12 conditions	Criteria Provided Multiple Submitters No Conflicts	CA000176	rs_587782620	10 SubmittersRCV000132003 RCV000227179 RCV000409072 RCV000413546 RCV001354661 RCV001560552 RCV003474783 RCV005025218
NM_000546.6(TP53):c.19G>C (p.Asp7His)	SNV Germline	Chr17:7676576	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Li-Fraumeni syndrome Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA000065	rs_587782646	5 SubmittersRCV000132048 RCV001559782 RCV001364215 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 Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA000493	rs_587782654	5 SubmittersRCV000132069 RCV001050775 RCV002288653
NM_000546.6(TP53):c.711G>A (p.Met237Ile)	SNV Germline/somatic	Chr17:7674252	Pathogenic	Hereditary cancer-predisposing syndrome Ovarian neoplasm Breast and/or ovarian cancer Li-Fraumeni syndrome not specified Li-Fraumeni syndrome 1 Neoplasm Condition: not provided Adrenocortical carcinoma, hereditary	Reviewed By Expert Panel	CA000349	rs_587782664	13 SubmittersRCV000132084 RCV000785336 RCV001271055 RCV000464261 RCV000581940 RCV001527088 RCV004668799 RCV001567943 RCV003462031
NM_000546.6(TP53):c.455C>T (p.Pro152Leu)	SNV Germline/somatic	Chr17:7675157	Pathogenic	Li-Fraumeni syndrome 1 Familial cancer of breast Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Squamous cell carcinoma of the head and neck Condition: not provided Lip and oral cavity carcinoma Adrenocortical carcinoma, hereditary Neoplasm TP53-related disorder	Reviewed By Expert Panel	CA000204	rs_587782705	19 SubmittersRCV000677669 RCV000755703 RCV000132156 RCV000168122 RCV001270267 RCV000583667 RCV001255632 RCV003462034 RCV004668801 RCV004797600
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 Condition: not provided Li-Fraumeni syndrome 1	Reviewed By Expert Panel	CA000015	rs_121912664	6 SubmittersRCV000132259 RCV000785297 RCV005606648 RCV003237742 RCV002288655
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 1 Li-Fraumeni syndrome Familial cancer of breast Li-Fraumeni syndrome 1 TP53-related disorder	Criteria Provided Conflicting Classifications	CA000017	rs_17882252	12 SubmittersRCV000132285 RCV000254694 RCV001030734 RCV001127282 RCV001081368 RCV005359297 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 1 Li-Fraumeni syndrome	Criteria Provided Conflicting Classifications	CA000060	rs_587782776	7 SubmittersRCV000132310 RCV000411346 RCV002514753
NM_000546.6(TP53):c.787A>G (p.Asn263Asp)	SNV Germline	Chr17:7673833	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1 Hereditary cancer Li-Fraumeni syndrome	Criteria Provided Conflicting Classifications	CA000419	rs_72661119	11 SubmittersRCV000679373 RCV000132389 RCV000663318 RCV005229972 RCV000474969
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 Breast and/or ovarian cancer Li-Fraumeni syndrome 1 Condition: not provided not specified TP53-related disorder	Criteria Provided Conflicting Classifications	CA000317	rs_146340390	17 SubmittersRCV000161032 RCV000989715 RCV000148907 RCV001798464 RCV000411498 RCV000213056 RCV001002287 RCV003905279
NM_000546.6(TP53):c.839G>T (p.Arg280Ile)	SNV Germline/somatic	Chr17:7673781	Conflicting classifications of pathogenicity	Prostate cancer 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	Squamous cell carcinoma of the head and neck Condition: not provided Prostate cancer Hereditary cancer-predisposing syndrome Ovarian neoplasm Li-Fraumeni syndrome 1 Li-Fraumeni syndrome Neoplasm	Criteria Provided Multiple Submitters No Conflicts	CA000421	rs_193920774	10 SubmittersRCV000421625 RCV000255749 RCV000149050 RCV000492556 RCV000785456 RCV002288661 RCV000709403 RCV004668807
NM_000546.6(TP53):c.714T>G (p.Cys238Trp)	SNV Germline/somatic	Chr17:7674249	Pathogenic/Likely pathogenic	Prostate cancer 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	Condition: not provided Hereditary cancer-predisposing syndrome Prostate cancer Ovarian neoplasm Li-Fraumeni syndrome 1 Li-Fraumeni syndrome Adrenocortical carcinoma, hereditary	Criteria Provided Multiple Submitters No Conflicts	CA000234	rs_193920817	9 SubmittersRCV000161027 RCV000214033 RCV000149053 RCV000785328 RCV000761073 RCV000473543 RCV003474797
NM_000546.6(TP53):c.722C>G (p.Ser241Cys)	SNV Germline/somatic	Chr17:7674241	Pathogenic/Likely pathogenic	Li-Fraumeni syndrome Condition: not provided Hereditary cancer-predisposing syndrome Ovarian neoplasm Li-Fraumeni syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA000357	rs_28934573	7 SubmittersRCV000154419 RCV000236210 RCV000492778 RCV000785321 RCV002288664
NM_000546.6(TP53):c.1010G>C (p.Arg337Pro)	SNV Germline	Chr17:7670699	Likely pathogenic	Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1	Reviewed By Expert Panel	CA000014	rs_121912664	6 SubmittersRCV000154527 RCV001187412 RCV002288666
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 Rhabdomyosarcoma Breast and/or ovarian cancer Prostate cancer Glioma susceptibility 1 Li-Fraumeni syndrome 1 TP53-related disorder Adrenocortical carcinoma, hereditary Neoplasm	Criteria Provided Multiple Submitters No Conflicts	CA000144	rs_55863639	23 SubmittersRCV000154460 RCV000218743 RCV000483667 RCV001257525 RCV001271053 RCV001527480 RCV001530197 RCV002288665 RCV003398806 RCV003462060 RCV004668810
NM_000546.6(TP53):c.1024C>T (p.Arg342Ter)	SNV Germline/somatic	Chr17:7670685	Pathogenic	Hereditary cancer-predisposing syndrome Condition: not provided Ovarian neoplasm Li-Fraumeni syndrome Gallbladder cancer Colonic diverticula Adrenocortical carcinoma, hereditary Neoplasm Li-Fraumeni syndrome 1 TP53-related disorder 12 conditions	Criteria Provided Multiple Submitters No Conflicts	CA000019	rs_730882029	22 SubmittersRCV000161074 RCV000213069 RCV000785301 RCV000549233 RCV001374440 RCV001554321 RCV003474838 RCV005230001 RCV002288707 RCV004797601 RCV002492644
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 12 conditions	Criteria Provided Multiple Submitters No Conflicts	CA000452	rs_587781525	5 SubmittersRCV000161072 RCV000215048 RCV000799325 RCV002288706 RCV005016484
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	7 SubmittersRCV000161049 RCV000580153 RCV000663058 RCV002053940
NM_000546.6(TP53):c.752T>G (p.Ile251Ser)	SNV Germline	Chr17:7674211	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA000396	rs_730882027	4 SubmittersRCV000161070 RCV004019947 RCV003621508 RCV004019946
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 Condition: not provided Ovarian neoplasm Gallbladder cancer Li-Fraumeni syndrome 1 Adrenocortical carcinoma, hereditary Neoplasm Hereditary breast ovarian cancer syndrome	Criteria Provided Multiple Submitters No Conflicts	CA000351	rs_730882005	13 SubmittersRCV000161034 RCV000167907 RCV000235220 RCV000785261 RCV001374444 RCV002288693 RCV003462109 RCV004668817 RCV004794368
NM_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 Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1 Li-Fraumeni syndrome	Criteria Provided Conflicting Classifications	CA000346	rs_730882026	3 SubmittersRCV000161069 RCV002288705 RCV002288704 RCV001373091
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 Ovarian neoplasm Li-Fraumeni syndrome 1 Adrenocortical carcinoma, hereditary Neoplasm	Criteria Provided Multiple Submitters No Conflicts	CA000308	rs_730882025	14 SubmittersRCV000161067 RCV000168150 RCV000561534 RCV000583984 RCV000785523 RCV000663213 RCV003474837 RCV004668819
NM_000546.6(TP53):c.575A>G (p.Gln192Arg)	SNV Germline	Chr17:7674956	Conflicting classifications of pathogenicity	Condition: not provided Li-Fraumeni syndrome 1 Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Adrenocortical carcinoma, hereditary	Criteria Provided Conflicting Classifications	CA000273	rs_730882002	5 SubmittersRCV000161029 RCV002288689 RCV001024490 RCV001371035 RCV003462108
NM_000546.6(TP53):c.524G>T (p.Arg175Leu)	SNV Germline	Chr17:7675088	Likely pathogenic	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1 Li-Fraumeni syndrome	Reviewed By Expert Panel	CA000252	rs_28934578	5 SubmittersRCV000161065 RCV002288703 RCV000810785
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 Lip and oral cavity carcinoma Squamous cell carcinoma of the head and neck Ovarian neoplasm Li-Fraumeni syndrome 1 Familial cancer of breast	Criteria Provided Multiple Submitters No Conflicts	CA000243	rs_730882001	11 SubmittersRCV000161028 RCV000219202 RCV000633373 RCV001255634 RCV001270262 RCV000785484 RCV002288688 RCV002272147
NM_000546.6(TP53):c.475G>C (p.Ala159Pro)	SNV Germline/somatic	Chr17:7675137	Conflicting classifications of pathogenicity	not specified Ovarian neoplasm Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1 Neoplasm	Criteria Provided Conflicting Classifications	CA000233	rs_730882000	6 SubmittersRCV000161026 RCV000785272 RCV001321871 RCV002288687 RCV002288686 RCV004668816
NM_000546.6(TP53):c.380C>T (p.Ser127Phe)	SNV Germline/somatic	Chr17:7675232	Pathogenic/Likely pathogenic	Condition: not provided not specified Ovarian neoplasm Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1 Li-Fraumeni syndrome Adrenocortical carcinoma, hereditary	Criteria Provided Multiple Submitters No Conflicts	CA000148	rs_730881999	10 SubmittersRCV000161024 RCV000606528 RCV000785332 RCV003162681 RCV004019945 RCV000633384 RCV003474836
NM_000546.6(TP53):c.289G>C (p.Val97Leu)	SNV Germline	Chr17:7676080	Conflicting classifications of pathogenicity	Condition: not provided Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA000092	rs_730882023	6 SubmittersRCV000161064 RCV001850278 RCV002288702 RCV002288701
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.649G>A (p.Val217Met)	SNV Germline	Chr17:7674882	Conflicting classifications of pathogenicity	Li-Fraumeni syndrome 12 conditions Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA000309	rs_35163653	4 SubmittersRCV000161936 RCV005025252 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 Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA000043	rs_749061599	6 SubmittersRCV000166233 RCV000559034 RCV002288759
NM_000546.6(TP53):c.1078G>A (p.Gly360Arg)	SNV Germline	Chr17:7670631	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome TP53-related disorder Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA000028	rs_786203298	7 SubmittersRCV000166545 RCV001241003 RCV003416041 RCV001567714 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	Hereditary cancer-predisposing syndrome Condition: not provided Li-Fraumeni syndrome not specified Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA000502	rs_34361146	10 SubmittersRCV000164926 RCV000587880 RCV001087552 RCV001283870 RCV005620910
NM_000546.6(TP53):c.856G>A (p.Glu286Lys)	SNV Germline/somatic	Chr17:7673764	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Condition: not provided Li-Fraumeni syndrome Li-Fraumeni syndrome 1 Neoplasm Vulvar adenocarcinoma of mammary gland type	Criteria Provided Multiple Submitters No Conflicts	CA000464	rs_786201059	8 SubmittersRCV000162466 RCV000255724 RCV000466372 RCV002288710 RCV004668822 RCV004813066
NM_000546.6(TP53):c.830G>A (p.Cys277Tyr)	SNV Germline/somatic	Chr17:7673790	Conflicting classifications of pathogenicity	Condition: not provided Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Malignant tumor of breast Neoplasm Adrenocortical carcinoma, hereditary	Criteria Provided Conflicting Classifications	CA000438	rs_763098116	9 SubmittersRCV000254809 RCV000456858 RCV000165199 RCV001357202 RCV005230009 RCV003474865
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 Li-Fraumeni syndrome 1 Ovarian neoplasm Familial pancreatic carcinoma Li-Fraumeni syndrome 1 Condition: not provided Neoplasm	Reviewed By Expert Panel	CA000427	rs_121912657	11 SubmittersRCV000165304 RCV000457645 RCV001527085 RCV000785341 RCV005365079 RCV002243833 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.615T>A (p.Tyr205Ter)	SNV Germline	Chr17:7674916	Pathogenic	Hereditary cancer-predisposing syndrome	Criteria Provided Single Submitter	CA000298	rs_786202222	1 SubmittersRCV000164938
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 Li-Fraumeni syndrome 1 Ovarian neoplasm	Criteria Provided Conflicting Classifications	CA000276	rs_786201838	5 SubmittersRCV000165315 RCV000697802 RCV004019975 RCV000785542
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 Adrenocortical carcinoma, hereditary Li-Fraumeni syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA000274	rs_786201838	9 SubmittersRCV000164329 RCV000255425 RCV000429618 RCV000460847 RCV000785346 RCV003474857 RCV002288732
NM_000546.6(TP53):c.527G>A (p.Cys176Tyr)	SNV Germline/somatic	Chr17:7675085	Pathogenic	Hereditary cancer-predisposing syndrome Condition: not provided Li-Fraumeni syndrome Familial ovarian cancer Li-Fraumeni syndrome 1 TP53-related disorder Adrenocortical carcinoma, hereditary Squamous cell carcinoma Adrenal cortex carcinoma	Criteria Provided Multiple Submitters No Conflicts	CA000254	rs_786202962	9 SubmittersRCV000166045 RCV000255616 RCV000461158 RCV001354219 RCV002288754 RCV003407616 RCV003474872 RCV003128588 RCV003995473
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 Li-Fraumeni syndrome Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA000210	rs_786202752	6 SubmittersRCV000165724 RCV000804037 RCV000986051 RCV001192618
NM_000546.6(TP53):c.431A>C (p.Gln144Pro)	SNV Germline/somatic	Chr17:7675181	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Ovarian neoplasm Li-Fraumeni syndrome Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA000182	rs_786203071	4 SubmittersRCV000166212 RCV000785331 RCV001850338 RCV002288758
NM_000546.6(TP53):c.419C>A (p.Thr140Asn)	SNV Germline	Chr17:7675193	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome	Criteria Provided Conflicting Classifications	CA000172	rs_786202561	3 SubmittersRCV000165423 RCV004804749
NM_000546.6(TP53):c.413C>T (p.Ala138Val)	SNV Germline/somatic	Chr17:7675199	Likely pathogenic	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Adrenocortical carcinoma, hereditary Adrenal cortex carcinoma Li-Fraumeni syndrome 1	Reviewed By Expert Panel	CA000168	rs_750600586	6 SubmittersRCV000164195 RCV000813957 RCV003474852 RCV003995323 RCV004019963
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 TP53-related disorder Familial pancreatic carcinoma Li-Fraumeni syndrome 1 Neoplasm	Criteria Provided Conflicting Classifications	CA000140	rs_786201057	19 SubmittersRCV000162461 RCV000237013 RCV000457119 RCV000576336 RCV003462117 RCV004797602 RCV005365056 RCV004668821
NM_000546.6(TP53):c.305C>T (p.Thr102Ile)	SNV Germline	Chr17:7676064	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Condition: not provided Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA000098	rs_786202717	7 SubmittersRCV000165667 RCV000819967 RCV004721282 RCV002288749
NM_000546.6(TP53):c.141G>A (p.Pro47=)	SNV Germline	Chr17:7676228	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome not specified Condition: not provided Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA000054	rs_201741778	9 SubmittersRCV000164165 RCV000206130 RCV001818374 RCV001704191 RCV002288727
NM_000546.6(TP53):c.100C>G (p.Pro34Ala)	SNV Germline	Chr17:7676269	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Condition: not provided Li-Fraumeni syndrome 1 not specified	Criteria Provided Conflicting Classifications	CA000012	rs_786201968	7 SubmittersRCV000165887 RCV000205889 RCV000483753 RCV002288753 RCV005230011
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	7 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 Li-Fraumeni syndrome 1 TP53-related disorder	Criteria Provided Conflicting Classifications	CA000323	rs_748527030	10 SubmittersRCV000163369 RCV000196762 RCV000483133 RCV000989728 RCV001174848 RCV005620908 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 Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA000304	rs_1800369	13 SubmittersRCV000163241 RCV000196365 RCV000430891 RCV000590622 RCV001270281 RCV003492674 RCV005620907
NM_000546.6(TP53):c.1087A>G (p.Arg363Gly)	SNV Germline	Chr17:7670622	Conflicting classifications of pathogenicity	Li-Fraumeni syndrome Condition: not provided Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA000033	rs_745751553	5 SubmittersRCV000168038 RCV000483595 RCV002288772 RCV002288771
NM_000546.6(TP53):c.589G>A (p.Val197Met)	SNV Germline/somatic	Chr17:7674942	Conflicting classifications of pathogenicity	Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1 Neoplasm	Criteria Provided Conflicting Classifications	CA000285	rs_786204041	7 SubmittersRCV000167874 RCV001024656 RCV002288770 RCV005230025
NM_000546.6(TP53):c.560-9T>A	SNV Germline	Chr17:7674980	Conflicting classifications of pathogenicity	Condition: not provided Li-Fraumeni syndrome Li-Fraumeni syndrome 1 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA000269	rs_794727781	6 SubmittersRCV000179330 RCV001046951 RCV002288782 RCV002288783
NM_000546.6(TP53):c.1025G>C (p.Arg342Pro)	SNV Germline/somatic	Chr17:7670684	Pathogenic	Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Ovarian neoplasm Li-Fraumeni syndrome 1 Condition: not provided	Reviewed By Expert Panel	CA337802	rs_375338359	8 SubmittersRCV000198319 RCV000213216 RCV000785264 RCV002288808 RCV001538204
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 Ovarian neoplasm Li-Fraumeni syndrome 1 Breast carcinoma Adrenocortical carcinoma, hereditary Acute myeloid leukemia Neoplasm	Criteria Provided Multiple Submitters No Conflicts	CA337141	rs_863224451	13 SubmittersRCV000197359 RCV000235315 RCV000568594 RCV000785533 RCV002288809 RCV001610519 RCV003468892 RCV003320135 RCV004668842
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 Hereditary cancer-predisposing syndrome Neoplasm Adrenocortical carcinoma, hereditary Li-Fraumeni syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA339249	rs_863224499	9 SubmittersRCV000200333 RCV000786828 RCV002288814 RCV004668847 RCV003474954 RCV002288813
NM_000546.6(TP53):c.584T>C (p.Ile195Thr)	SNV Germline/somatic	Chr17:7674947	Pathogenic	Li-Fraumeni syndrome Ovarian neoplasm Condition: not provided Breast and/or ovarian cancer Lung adenocarcinoma Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1 Neoplasm TP53-related disorder Adrenocortical carcinoma, hereditary Li-Fraumeni syndrome 1 Familial cancer of breast	Criteria Provided Multiple Submitters No Conflicts	CA002232	rs_760043106	16 SubmittersRCV000198789 RCV000785324 RCV000487386 RCV001271054 RCV000421097 RCV001024600 RCV002288812 RCV004668846 RCV004725053 RCV003474953 RCV005361139
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_000546.6(TP53):c.700T>G (p.Tyr234Asp)	SNV Germline	Chr17:7674263	Pathogenic/Likely pathogenic	Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA348450	rs_864622237	4 SubmittersRCV000204217 RCV000492197 RCV004020511
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/Likely pathogenic	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1 Li-Fraumeni syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA353535	rs_869312782	5 SubmittersRCV000210192 RCV002288839 RCV001853361 RCV005230093
NM_000546.6(TP53):c.517G>A (p.Val173Met)	SNV Germline/somatic	Chr17:7675095	Pathogenic	Hereditary cancer-predisposing syndrome Condition: not provided Ovarian neoplasm Lip and oral cavity carcinoma TP53-related disorder Li-Fraumeni syndrome Neoplasm	Reviewed By Expert Panel	CA10577579	rs_876660754	11 SubmittersRCV000214341 RCV000223396 RCV000785308 RCV001255635 RCV004797606 RCV000477355 RCV005230127
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 12 conditions	Criteria Provided Multiple Submitters No Conflicts	CA10580902	rs_876658982	8 SubmittersRCV000222547 RCV000466199 RCV001252683 RCV001535521 RCV005016585
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 Familial cancer of breast Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA000790	rs_773553186	9 SubmittersRCV000219841 RCV000249541 RCV000463320 RCV001557066 RCV005365151
NM_000546.6(TP53):c.976G>T (p.Glu326Ter)	SNV Germline/somatic	Chr17:7673552	Pathogenic	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Ovarian neoplasm Li-Fraumeni syndrome 1 Neoplasm	Criteria Provided Multiple Submitters No Conflicts	CA10580908	rs_876659384	6 SubmittersRCV000218971 RCV000633385 RCV000785490 RCV002288871 RCV005230117
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 Ovarian neoplasm Condition: not provided Li-Fraumeni syndrome Gallbladder cancer	Criteria Provided Multiple Submitters No Conflicts	CA10580915	rs_876659802	5 SubmittersRCV000214784 RCV000785311 RCV001541668 RCV001042706 RCV001374441
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 Li-Fraumeni syndrome 1 Neoplasm	Criteria Provided Conflicting Classifications	CA10580916	rs_786202082	6 SubmittersRCV000223364 RCV000236401 RCV002515676 RCV002288879 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 Ovarian neoplasm Li-Fraumeni syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA10580917	rs_28934576	5 SubmittersRCV000222860 RCV000553607 RCV000785460 RCV002288863
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 Condition: not provided Adrenocortical carcinoma, hereditary Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA10580926	rs_876660807	7 SubmittersRCV000223044 RCV000560536 RCV001355898 RCV003137828 RCV003475037 RCV004020697
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 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA10580932	rs_587778720	6 SubmittersRCV000220461 RCV000506128 RCV002288865 RCV002518297 RCV004668856 RCV005241348
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/somatic	Chr17:7674944	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Li-Fraumeni syndrome 1 Neoplasm	Criteria Provided Multiple Submitters No Conflicts	CA10580934	rs_483352697	6 SubmittersRCV000216410 RCV003114386 RCV004020663 RCV005230113
NM_000546.6(TP53):c.586C>G (p.Arg196Gly)	SNV Germline	Chr17:7674945	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA10580935	rs_397516435	3 SubmittersRCV000217052 RCV000230517 RCV002288876
NM_000546.6(TP53):c.577C>T (p.His193Tyr)	SNV Germline/somatic	Chr17:7674954	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Condition: not provided Li-Fraumeni syndrome Li-Fraumeni syndrome 1 Malignant tumor of urinary bladder	Criteria Provided Multiple Submitters No Conflicts	CA10580936	rs_876658468	6 SubmittersRCV000221478 RCV000412758 RCV000809571 RCV002288851 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.401T>G (p.Phe134Cys)	SNV Germline	Chr17:7675211	Likely pathogenic	Hereditary cancer-predisposing syndrome Condition: not provided Li-Fraumeni syndrome	Criteria Provided Multiple Submitters No Conflicts	CA002638	rs_780442292	3 SubmittersRCV000214547 RCV000656580 RCV005600832
NM_000546.6(TP53):c.329G>C (p.Arg110Pro)	SNV Germline	Chr17:7676040	Pathogenic	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Li-Fraumeni syndrome 1 Adrenocortical carcinoma, hereditary Familial cancer of breast	Reviewed By Expert Panel	CA10580948	rs_11540654	7 SubmittersRCV000222678 RCV000231991 RCV002288889 RCV003462528 RCV004698486
NM_000546.6(TP53):c.273G>A (p.Trp91Ter)	SNV Germline/somatic	Chr17:7676096	Pathogenic	Hereditary cancer-predisposing syndrome Condition: not provided Ovarian neoplasm Li-Fraumeni syndrome 1 Li-Fraumeni syndrome	Criteria Provided Multiple Submitters No Conflicts	CA10580953	rs_876660548	9 SubmittersRCV000220815 RCV000657656 RCV000785284 RCV001028065 RCV000233967
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.1009C>G (p.Arg337Gly)	SNV Germline	Chr17:7670700	Likely pathogenic	Li-Fraumeni syndrome	Reviewed By Expert Panel	CA10583674	rs_587782529	2 SubmittersRCV000226515
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 Malignant tumor of breast Adrenocortical carcinoma, hereditary Hereditary breast ovarian cancer syndrome	Criteria Provided Conflicting Classifications	CA10575441	rs_730882008	14 SubmittersRCV000226273 RCV000235474 RCV000492420 RCV000709768 RCV000767028 RCV001357626 RCV003463657 RCV003483584
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.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	5 SubmittersRCV000228072 RCV001357802 RCV002256136
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_000546.6(TP53):c.981T>G (p.Tyr327Ter)	SNV Germline	Chr17:7673547	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA10584585	rs_879254077	1 SubmittersRCV000235861
NM_000546.6(TP53):c.794T>C (p.Leu265Pro)	SNV Germline	Chr17:7673826	Pathogenic/Likely pathogenic	Li-Fraumeni syndrome Condition: not provided Hereditary cancer-predisposing syndrome Rhabdomyosarcoma Li-Fraumeni syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA10584586	rs_879253942	7 SubmittersRCV000554509 RCV000235981 RCV000564617 RCV001257518 RCV000662855
NM_000546.6(TP53):c.698A>G (p.His233Arg)	SNV Germline	Chr17:7674265	Conflicting classifications of pathogenicity	Condition: not provided Li-Fraumeni syndrome Li-Fraumeni syndrome 1 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA10584588	rs_879254233	4 SubmittersRCV000235730 RCV001302749 RCV002288936 RCV000569303
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 Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome TP53-related disorder	Reviewed By Expert Panel	CA10584590	rs_879253911	6 SubmittersRCV000235571 RCV000492319 RCV000544036 RCV004797607
NM_000546.6(TP53):c.490A>G (p.Lys164Glu)	SNV Germline	Chr17:7675122	Pathogenic	Condition: not provided Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1	Reviewed By Expert Panel	CA10584591	rs_879254249	5 SubmittersRCV000235745 RCV000541487 RCV002288938 RCV002288937
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 Li-Fraumeni syndrome 1 Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA10584592	rs_587782144	6 SubmittersRCV000236862 RCV000548853 RCV000989719 RCV002288931 RCV002288932
NM_000546.6(TP53):c.97-2A>G	SNV Germline	Chr17:7676274	Pathogenic/Likely pathogenic	Condition: not provided TP53-related disorder Li-Fraumeni syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA10584595	rs_879254212	3 SubmittersRCV000236029 RCV004725126 RCV005420928
NM_000546.6(TP53):c.559+8G>A	SNV Germline	Chr17:7675045	Conflicting classifications of pathogenicity	not specified Condition: not provided Li-Fraumeni syndrome Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA002364	rs_775915220	6 SubmittersRCV000253181 RCV000726139 RCV001078796 RCV005620932
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 not specified Ovarian neoplasm Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA10588671	rs_886039484	8 SubmittersRCV000255449 RCV000700891 RCV000772138 RCV002282093 RCV000785239 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 Hereditary cancer-predisposing syndrome Condition: not provided TP53-related disorder not specified	Criteria Provided Conflicting Classifications	CA001891	rs_374907737	6 SubmittersRCV000409763 RCV002288981 RCV001810875 RCV003892009 RCV001796970
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 Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Li-Fraumeni syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA16602985	rs_587781991	4 SubmittersRCV000425788 RCV000492398 RCV001203469 RCV004022199
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>A (p.Cys135Ser)	SNV Germline	Chr17:7675209	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome	Criteria Provided Conflicting Classifications	CA16602988	rs_1057519975	2 SubmittersRCV005502792 RCV000814994
NM_000546.6(TP53):c.403T>G (p.Cys135Gly)	SNV Germline/somatic	Chr17:7675209	Pathogenic	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Ovarian neoplasm Li-Fraumeni syndrome 1	Reviewed By Expert Panel	CA16602989	rs_1057519975	4 SubmittersRCV000570655 RCV000991142 RCV000785515 RCV004022201
NM_000546.6(TP53):c.423C>G (p.Cys141Trp)	SNV Germline	Chr17:7675189	Pathogenic/Likely pathogenic	Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA16602990	rs_1057519977	2 SubmittersRCV000467641 RCV000492201
NM_000546.6(TP53):c.421T>C (p.Cys141Arg)	SNV Germline	Chr17:7675191	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome	Criteria Provided Conflicting Classifications	CA16602991	rs_1057519978	2 SubmittersRCV002328907 RCV001861481
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 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA16602994	rs_587781288	3 SubmittersRCV000435499 RCV001214540 RCV005502793
NM_000546.6(TP53):c.527G>T (p.Cys176Phe)	SNV Germline/somatic	Chr17:7675085	Pathogenic/Likely pathogenic	Li-Fraumeni syndrome Li-Fraumeni syndrome 1 Hereditary cancer-predisposing syndrome Neoplasm	Criteria Provided Multiple Submitters No Conflicts	CA16602995	rs_786202962	4 SubmittersRCV001244047 RCV004022202 RCV002348142 RCV005230299
NM_000546.6(TP53):c.526T>A (p.Cys176Ser)	SNV Germline	Chr17:7675086	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Condition: not provided Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA16602996	rs_967461896	4 SubmittersRCV000492644 RCV001060393 RCV001352918 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 1 Li-Fraumeni syndrome	Criteria Provided Conflicting Classifications	CA16602997	rs_967461896	4 SubmittersRCV000785535 RCV001023834 RCV004022204 RCV003621529
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 Li-Fraumeni syndrome 1 TP53-related disorder 12 conditions	Criteria Provided Conflicting Classifications	CA16602998	rs_1057519980	8 SubmittersRCV000530055 RCV000567103 RCV000785243 RCV004022205 RCV003401413 RCV005018716
NM_000546.6(TP53):c.526T>C (p.Cys176Arg)	SNV Germline/somatic	Chr17:7675086	Conflicting classifications of pathogenicity	Breast neoplasm Ovarian neoplasm Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA16602999	rs_967461896	5 SubmittersRCV000421755 RCV000785469 RCV001023833 RCV001044520 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	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Li-Fraumeni syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA16603002	rs_1057519981	4 SubmittersRCV000492666 RCV000812726 RCV002289521
NM_000546.6(TP53):c.712T>G (p.Cys238Gly)	SNV Germline/somatic	Chr17:7674251	Pathogenic/Likely pathogenic	Li-Fraumeni syndrome Ovarian neoplasm Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA16603003	rs_1057519981	4 SubmittersRCV001390630 RCV000785550 RCV002365460 RCV005256607
NM_000546.6(TP53):c.725G>T (p.Cys242Phe)	SNV Germline/somatic	Chr17:7674238	Conflicting classifications of pathogenicity	Li-Fraumeni syndrome Ovarian neoplasm Neoplasm Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA501203	rs_121912655	4 SubmittersRCV000688366 RCV000785473 RCV004668951 RCV002379285
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 Hereditary cancer-predisposing syndrome Neoplasm Li-Fraumeni syndrome	Criteria Provided Multiple Submitters No Conflicts	CA16603006	rs_863224451	4 SubmittersRCV000785323 RCV004948279 RCV005230300 RCV001861482
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 Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA16603008	rs_1057519983	3 SubmittersRCV001183954 RCV002521507 RCV004022208
NM_000546.6(TP53):c.841G>T (p.Asp281Tyr)	SNV Germline/somatic	Chr17:7673779	Pathogenic/Likely pathogenic	Li-Fraumeni syndrome Li-Fraumeni syndrome 1 Neoplasm	Criteria Provided Multiple Submitters No Conflicts	CA16603009	rs_764146326	3 SubmittersRCV000792342 RCV004022209 RCV004668952
NM_000546.6(TP53):c.841G>A (p.Asp281Asn)	SNV Germline/somatic	Chr17:7673779	Pathogenic/Likely pathogenic	Ovarian neoplasm Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Neoplasm	Criteria Provided Multiple Submitters No Conflicts	CA001503	rs_764146326	5 SubmittersRCV000785452 RCV000824609 RCV002446642 RCV005230301
NM_000546.6(TP53):c.843C>G (p.Asp281Glu)	SNV Germline/somatic	Chr17:7673777	Conflicting classifications of pathogenicity	Li-Fraumeni syndrome Ovarian neoplasm Hereditary cancer-predisposing syndrome Neoplasm	Criteria Provided Conflicting Classifications	CA10590135	rs_1057519984	4 SubmittersRCV000633352 RCV000785286 RCV002446643 RCV005230302
NM_000546.6(TP53):c.841G>C (p.Asp281His)	SNV Germline/somatic	Chr17:7673779	Pathogenic/Likely pathogenic	Li-Fraumeni syndrome Gallbladder cancer Li-Fraumeni syndrome 1 Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA16603010	rs_764146326	4 SubmittersRCV001306199 RCV001292542 RCV004022210 RCV002446644
NM_000546.6(TP53):c.842A>C (p.Asp281Ala)	SNV Germline	Chr17:7673778	Pathogenic/Likely pathogenic	Adrenocortical carcinoma, hereditary Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA16603011	rs_587781525	2 SubmittersRCV003463826 RCV005286077
NM_000546.6(TP53):c.857A>G (p.Glu286Gly)	SNV Germline	Chr17:7673763	Conflicting classifications of pathogenicity	Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA16603012	rs_1057519985	2 SubmittersRCV000556558 RCV005251127
NM_000546.6(TP53):c.856G>C (p.Glu286Gln)	SNV Germline/somatic	Chr17:7673764	Conflicting classifications of pathogenicity	Li-Fraumeni syndrome Li-Fraumeni syndrome 1 Neoplasm	Criteria Provided Conflicting Classifications	CA16603013	rs_786201059	3 SubmittersRCV001048274 RCV004022211 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	Condition: not provided Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA16603016	rs_1057519986	4 SubmittersRCV000481465 RCV000824076 RCV002289523 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	Likely pathogenic	Hereditary cancer-predisposing syndrome Adrenocortical carcinoma, hereditary Condition: not provided Li-Fraumeni syndrome Li-Fraumeni syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA16603019	rs_1057519986	5 SubmittersRCV001805037 RCV003470375 RCV002508212 RCV002524696 RCV004022213
NM_000546.6(TP53):c.808T>G (p.Phe270Val)	SNV Germline	Chr17:7673812	Pathogenic	Hereditary cancer-predisposing syndrome	Criteria Provided Single Submitter	CA16603020	rs_1057519988	1 SubmittersRCV001027160
NM_000546.6(TP53):c.730G>T (p.Gly244Cys)	SNV Germline/somatic	Chr17:7674233	Conflicting classifications of pathogenicity	Li-Fraumeni syndrome Condition: not provided Familial cancer of breast Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA16603021	rs_1057519989	5 SubmittersRCV000538079 RCV001567979 RCV001270273 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 Malignant tumor of urinary bladder Gastric cancer Adrenocortical carcinoma, hereditary Neoplasm	Criteria Provided Multiple Submitters No Conflicts	CA16603022	rs_1057519989	10 SubmittersRCV000492366 RCV000633372 RCV001257520 RCV002289524 RCV003332172 RCV003168616 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	Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Condition: not provided Adrenocortical carcinoma, hereditary Li-Fraumeni syndrome 1 Neoplasm	Criteria Provided Multiple Submitters No Conflicts	CA001743	rs_121912656	6 SubmittersRCV000558455 RCV001026313 RCV001548147 RCV003476008 RCV002289525 RCV004668955
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	Ovarian neoplasm Hereditary cancer-predisposing syndrome Condition: not provided Li-Fraumeni syndrome TP53-related disorder Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA16603027	rs_1057519991	9 SubmittersRCV000785555 RCV001023983 RCV001591055 RCV000529132 RCV003983035 RCV004022216
NM_000546.6(TP53):c.537T>G (p.His179Gln)	SNV Germline	Chr17:7675075	Pathogenic/Likely pathogenic	Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Condition: not provided Li-Fraumeni syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA16603028	rs_876660821	6 SubmittersRCV000815181 RCV001293868 RCV002264935 RCV002289527
NM_000546.6(TP53):c.536A>T (p.His179Leu)	SNV Germline	Chr17:7675076	Conflicting classifications of pathogenicity	Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Adrenocortical carcinoma, hereditary Li-Fraumeni syndrome 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA16603029	rs_1057519991	6 SubmittersRCV000705316 RCV002348143 RCV003476009 RCV004022217 RCV004721352
NM_000546.6(TP53):c.535C>A (p.His179Asn)	SNV Germline	Chr17:7675077	Conflicting classifications of pathogenicity	Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Condition: not provided Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA16603030	rs_587780070	4 SubmittersRCV000695193 RCV000564826 RCV001575036 RCV004022218
NM_000546.6(TP53):c.535C>G (p.His179Asp)	SNV Germline	Chr17:7675077	Pathogenic/Likely pathogenic	Li-Fraumeni syndrome 1 Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Adrenocortical carcinoma, hereditary Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA16603031	rs_587780070	5 SubmittersRCV003335320 RCV002348144 RCV001851020 RCV003470376 RCV005230303
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.577C>A (p.His193Asn)	SNV Germline	Chr17:7674954	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_876658468	2 SubmittersRCV004949418 RCV005109943
NM_000546.6(TP53):c.641A>G (p.His214Arg)	SNV Germline/somatic	Chr17:7674890	Pathogenic	Condition: not provided Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Neoplasm Li-Fraumeni syndrome 1 12 conditions	Reviewed By Expert Panel	CA16040595	rs_1057519992	11 SubmittersRCV001584113 RCV000477234 RCV000492372 RCV005230304 RCV004022220 RCV005027481
NM_000546.6(TP53):c.641A>T (p.His214Leu)	SNV Germline	Chr17:7674890	Likely pathogenic	Li-Fraumeni syndrome	Reviewed By Expert Panel	CA16603036	rs_1057519992	3 SubmittersRCV002298583
NM_000546.6(TP53):c.583A>T (p.Ile195Phe)	SNV Germline/somatic	Chr17:7674948	Conflicting classifications of pathogenicity	Malignant tumor of esophagus Li-Fraumeni syndrome Condition: not provided Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA16603037	rs_942158624	4 SubmittersRCV001270271 RCV001345722 RCV003329275 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 Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1 Neoplasm	Criteria Provided Conflicting Classifications	CA16603041	rs_1057519995	5 SubmittersRCV000785451 RCV001301950 RCV002392946 RCV004022222 RCV004668956
NM_000546.6(TP53):c.396G>C (p.Lys132Asn)	SNV Germline/somatic	Chr17:7675216	Likely pathogenic	Li-Fraumeni syndrome Squamous cell carcinoma of the head and neck Li-Fraumeni syndrome 1 Condition: not provided Neoplasm	Reviewed By Expert Panel	CA16603044	rs_866775781	7 SubmittersRCV000709407 RCV000424592 RCV004022223 RCV004719814 RCV005230306
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 Condition: not provided Hereditary cancer-predisposing syndrome Neoplasm 12 conditions	Criteria Provided Multiple Submitters No Conflicts	CA16603045	rs_1057519996	10 SubmittersRCV000471183 RCV000785521 RCV004022224 RCV004797608 RCV005243222 RCV002356517 RCV004668957 RCV005018717
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	Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Neoplasm	Criteria Provided Conflicting Classifications	CA16603048	rs_1057519996	3 SubmittersRCV000546420 RCV004678696 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 Ovarian neoplasm Li-Fraumeni syndrome 1 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA16603049	rs_1057519997	5 SubmittersRCV000480700 RCV000459042 RCV000785496 RCV004022227 RCV004791445
NM_000546.6(TP53):c.332T>A (p.Leu111Gln)	SNV Germline	Chr17:7676037	Pathogenic	Li-Fraumeni syndrome Li-Fraumeni syndrome 1	Reviewed By Expert Panel	CA16603051	rs_1057519997	3 SubmittersRCV001041362 RCV004022228
NM_000546.6(TP53):c.581T>G (p.Leu194Arg)	SNV Germline/somatic	Chr17:7674950	Conflicting classifications of pathogenicity	Ovarian neoplasm Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Colorectal cancer Li-Fraumeni syndrome 1 Hereditary breast ovarian cancer syndrome TP53-related disorder	Criteria Provided Conflicting Classifications	CA16044097	rs_1057519998	6 SubmittersRCV000785551 RCV000535418 RCV000561306 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 Ovarian neoplasm Li-Fraumeni syndrome Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA16603052	rs_1057519998	4 SubmittersRCV000565549 RCV000785543 RCV001376885 RCV004022230
NM_000546.6(TP53):c.710T>A (p.Met237Lys)	SNV Germline/somatic	Chr17:7674253	Pathogenic/Likely pathogenic	Li-Fraumeni syndrome Neoplasm Acute myeloid leukemia Li-Fraumeni syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA001811	rs_765848205	4 SubmittersRCV002524697 RCV005230307 RCV002509381 RCV004022231
NM_000546.6(TP53):c.716A>G (p.Asn239Ser)	SNV Germline	Chr17:7674247	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1 Li-Fraumeni syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA16603054	rs_1057519999	6 SubmittersRCV000567507 RCV002289529 RCV001851021 RCV002510885
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	Condition: not provided Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Ovarian neoplasm TP53-related disorder Li-Fraumeni syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA16603059	rs_17849781	7 SubmittersRCV000522600 RCV000633344 RCV000562528 RCV000785527 RCV004797610 RCV004022233
NM_000546.6(TP53):c.832C>A (p.Pro278Thr)	SNV Germline/somatic	Chr17:7673788	Pathogenic/Likely pathogenic	Ovarian neoplasm Poly (ADP-Ribose) polymerase inhibitor response Li-Fraumeni syndrome 1 Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome	Criteria Provided Multiple Submitters No Conflicts	CA16603060	rs_17849781	5 SubmittersRCV000785511 RCV000626445 RCV004022234 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 Ovarian neoplasm Li-Fraumeni syndrome Condition: not provided Li-Fraumeni syndrome 1 12 conditions	Criteria Provided Conflicting Classifications	CA16603062	rs_17849781	6 SubmittersRCV000567850 RCV000785477 RCV000688854 RCV001584114 RCV004022235 RCV005018718
NM_000546.6(TP53):c.833C>A (p.Pro278His)	SNV Germline	Chr17:7673787	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Li-Fraumeni syndrome 1 Adrenocortical carcinoma, hereditary	Criteria Provided Conflicting Classifications	CA16603063	rs_876659802	5 SubmittersRCV001017582 RCV000633329 RCV002289531 RCV004567903
NM_000546.6(TP53):c.523C>G (p.Arg175Gly)	SNV Germline/somatic	Chr17:7675089	Pathogenic	Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Ovarian neoplasm Neoplasm Condition: not provided Li-Fraumeni syndrome 1	Reviewed By Expert Panel	CA16603066	rs_138729528	10 SubmittersRCV000459914 RCV000573315 RCV000785486 RCV004668959 RCV001584115 RCV002289532
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	4 SubmittersRCV002356518 RCV004022237 RCV002524699
NM_000546.6(TP53):c.742C>G (p.Arg248Gly)	SNV Germline	Chr17:7674221	Pathogenic/Likely pathogenic	Li-Fraumeni syndrome Carcinoma of colon Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA16603069	rs_121912651	4 SubmittersRCV000633396 RCV000626118 RCV001026425 RCV004022238
NM_000546.6(TP53):c.746G>T (p.Arg249Met)	SNV Germline/somatic	Chr17:7674217	Conflicting classifications of pathogenicity	Ovarian neoplasm Li-Fraumeni syndrome Li-Fraumeni syndrome 1 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA16603070	rs_587782329	5 SubmittersRCV000782360 RCV000690948 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 Li-Fraumeni syndrome Ovarian neoplasm Condition: not provided Li-Fraumeni syndrome 1 Neoplasm 12 conditions Neuroendocrine pancreatic tumor	Criteria Provided Multiple Submitters No Conflicts	CA001530	rs_28934576	9 SubmittersRCV000568814 RCV000822080 RCV000785524 RCV001539823 RCV002289534 RCV004668960 RCV002502455 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 Condition: not provided	Criteria Provided Conflicting Classifications	CA16603072	rs_121912660	4 SubmittersRCV000492483 RCV000423448 RCV000633356 RCV005411425
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 Li-Fraumeni syndrome Li-Fraumeni syndrome 1 12 conditions Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA16603074	rs_730882008	7 SubmittersRCV000442220 RCV000709402 RCV002289536 RCV002502456 RCV000492764
NM_000546.6(TP53):c.644G>T (p.Ser215Ile)	SNV Germline/somatic	Chr17:7674887	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Ovarian neoplasm Li-Fraumeni syndrome	Criteria Provided Conflicting Classifications	CA16603075	rs_587782177	3 SubmittersRCV001025280 RCV000785347 RCV003509529
NM_000546.6(TP53):c.645T>G (p.Ser215Arg)	SNV Germline/somatic	Chr17:7674886	Conflicting classifications of pathogenicity	Li-Fraumeni syndrome Ovarian neoplasm Li-Fraumeni syndrome 1 Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA16603076	rs_1057520001	6 SubmittersRCV000465501 RCV000785463 RCV000662560 RCV002289537 RCV004786685
NM_000546.6(TP53):c.644G>A (p.Ser215Asn)	SNV Germline	Chr17:7674887	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Adrenocortical carcinoma, hereditary Li-Fraumeni syndrome 1 not specified	Criteria Provided Conflicting Classifications	CA16603077	rs_587782177	5 SubmittersRCV000492171 RCV000816006 RCV003476011 RCV004022241 RCV005418106
NM_000546.6(TP53):c.722C>A (p.Ser241Tyr)	SNV Germline/somatic	Chr17:7674241	Pathogenic/Likely pathogenic	Ovarian neoplasm Li-Fraumeni syndrome Condition: not provided Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1 Neoplasm	Criteria Provided Multiple Submitters No Conflicts	CA16603078	rs_28934573	6 SubmittersRCV000785454 RCV001053974 RCV001576591 RCV002289539 RCV002289538 RCV004668961
NM_000546.6(TP53):c.721T>G (p.Ser241Ala)	SNV Germline	Chr17:7674242	Pathogenic/Likely pathogenic	Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1	Criteria Provided Multiple Submitters No Conflicts	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	Neoplasm Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1 Condition: not provided Li-Fraumeni syndrome	Criteria Provided Multiple Submitters No Conflicts	CA16044089	rs_786201057	8 SubmittersRCV004668962 RCV000492090 RCV002289540 RCV004719815 RCV000524926
NM_000546.6(TP53):c.517G>T (p.Val173Leu)	SNV Germline/somatic	Chr17:7675095	Pathogenic/Likely pathogenic	Li-Fraumeni syndrome Ovarian neoplasm Li-Fraumeni syndrome 1 Condition: not provided Hereditary cancer-predisposing syndrome Neoplasm	Criteria Provided Multiple Submitters No Conflicts	CA16603082	rs_876660754	7 SubmittersRCV000694763 RCV000785539 RCV002289541 RCV001821147 RCV002289542 RCV004668963
NM_000546.6(TP53):c.518T>A (p.Val173Glu)	SNV Germline/somatic	Chr17:7675094	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome not specified Li-Fraumeni syndrome 1 Li-Fraumeni syndrome Neoplasm	Criteria Provided Conflicting Classifications	CA16603083	rs_1057519747	5 SubmittersRCV000574130 RCV000582350 RCV004022245 RCV002524700 RCV005230310
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	7 SubmittersRCV000785309 RCV001042741 RCV002365461 RCV003321589 RCV004022246
NM_000546.6(TP53):c.647T>G (p.Val216Gly)	SNV Germline	Chr17:7674884	Conflicting classifications of pathogenicity	Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA16603085	rs_1057520004	2 SubmittersRCV001202958 RCV004678697
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	Lip and oral cavity carcinoma Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1 Neoplasm	Criteria Provided Conflicting Classifications	CA16603088	rs_1057520005	5 SubmittersRCV001255677 RCV001344689 RCV002429349 RCV004022248 RCV005230311
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 Li-Fraumeni syndrome 1 Condition: not provided TP53-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA16603095	rs_1057520007	6 SubmittersRCV000704312 RCV002356520 RCV004022251 RCV004721353 RCV004745373
NM_000546.6(TP53):c.613T>A (p.Tyr205Asn)	SNV Germline	Chr17:7674918	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1 Li-Fraumeni syndrome	Criteria Provided Conflicting Classifications	CA16603098	rs_1057520008	5 SubmittersRCV001024933 RCV000662621 RCV001851022
NM_000546.6(TP53):c.613T>C (p.Tyr205His)	SNV Germline	Chr17:7674918	Pathogenic/Likely pathogenic	Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA16603099	rs_1057520008	4 SubmittersRCV000819983 RCV000775886 RCV004022252
NM_000546.6(TP53):c.613T>G (p.Tyr205Asp)	SNV Germline	Chr17:7674918	Pathogenic/Likely pathogenic	Li-Fraumeni syndrome Li-Fraumeni syndrome 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA16603100	rs_1057520008	4 SubmittersRCV000462351 RCV000663307 RCV003441853
NM_000546.6(TP53):c.658T>C (p.Tyr220His)	SNV Germline/somatic	Chr17:7674873	Pathogenic/Likely pathogenic	Ovarian neoplasm Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Adrenocortical carcinoma, hereditary Li-Fraumeni syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA002135	rs_530941076	7 SubmittersRCV000785254 RCV000566866 RCV001215103 RCV003476013 RCV004022253
NM_000546.6(TP53):c.658T>A (p.Tyr220Asn)	SNV Germline/somatic	Chr17:7674873	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Condition: not provided Li-Fraumeni syndrome 1 Neoplasm	Criteria Provided Conflicting Classifications	CA16603101	rs_530941076	5 SubmittersRCV000570507 RCV001313857 RCV001575028 RCV004022254 RCV005230312
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/Likely pathogenic	Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA16603105	rs_864622237	3 SubmittersRCV000809457 RCV001025925 RCV005251128
NM_000546.6(TP53):c.707A>G (p.Tyr236Cys)	SNV Germline/somatic	Chr17:7674256	Conflicting classifications of pathogenicity	Li-Fraumeni syndrome Ovarian neoplasm Condition: not provided Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1 Neoplasm	Criteria Provided Conflicting Classifications	CA16603106	rs_730882026	8 SubmittersRCV001201781 RCV000785279 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.471C>A (p.Val157=)	SNV Germline	Chr17:7675141	Conflicting classifications of pathogenicity	not specified Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1 Li-Fraumeni syndrome Colorectal cancer Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA16607524	rs_1057522496	6 SubmittersRCV000436964 RCV000573040 RCV002289566 RCV001472156 RCV005355759
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	Hereditary cancer-predisposing syndrome Condition: not provided Li-Fraumeni syndrome Adrenocortical carcinoma, hereditary	Criteria Provided Conflicting Classifications	CA16607851	rs_1057522275	5 SubmittersRCV000492173 RCV000431317 RCV000529909 RCV003463830
NM_000546.6(TP53):c.673-1G>A	SNV Germline	Chr17:7674291	Pathogenic	Condition: not provided Li-Fraumeni syndrome 1 Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome	Criteria Provided Multiple Submitters No Conflicts	CA16607882	rs_878854073	6 SubmittersRCV000418491 RCV002289552 RCV000708630 RCV001034938
NM_000546.6(TP53):c.672+9T>C	SNV Germline	Chr17:7674850	Conflicting classifications of pathogenicity	not specified Li-Fraumeni syndrome Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA16607883	rs_1057521030	5 SubmittersRCV000425870 RCV001424406 RCV005620936
NM_000546.6(TP53):c.-12C>T	SNV Germline	Chr17:7676606	Conflicting classifications of pathogenicity	not specified Hereditary cancer-predisposing syndrome 12 conditions Li-Fraumeni syndrome 1 Familial cancer of breast Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA004012	rs_375229869	6 SubmittersRCV000434247 RCV000583581 RCV002488960 RCV005365293 RCV002289573
NM_000546.6(TP53):c.1101-3C>T	SNV Germline	Chr17:7669693	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Li-Fraumeni syndrome	Criteria Provided Conflicting Classifications	CA16608655	rs_1057521167	4 SubmittersRCV001805046 RCV004719077 RCV001861512
NM_000546.6(TP53):c.880G>T (p.Glu294Ter)	SNV Germline/somatic	Chr17:7673740	Pathogenic	Condition: not provided Ovarian neoplasm Li-Fraumeni syndrome 1 Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA16608665	rs_1057520607	4 SubmittersRCV000433836 RCV001527467 RCV004022313 RCV002374641
NM_000546.6(TP53):c.325T>G (p.Phe109Val)	SNV Germline	Chr17:7676044	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome	Criteria Provided Conflicting Classifications	CA16608667	rs_1057523496	3 SubmittersRCV000434126 RCV004022449 RCV005090832
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	3 SubmittersRCV000471374 RCV001127284
NM_000546.6(TP53):c.920-1G>C	SNV Germline/somatic	Chr17:7673609	Pathogenic	Li-Fraumeni syndrome Condition: not provided Neoplasm	Criteria Provided Single Submitter	CA16615686	rs_587781702	3 SubmittersRCV000458070 RCV003151060 RCV005230383
NM_000546.6(TP53):c.783-4G>A	SNV Germline	Chr17:7673841	Conflicting classifications of pathogenicity	Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA16615687	rs_1060504160	5 SubmittersRCV000468122 RCV001181991 RCV005620942
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 Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA16615692	rs_1060504161	3 SubmittersRCV000483671 RCV001421969 RCV005620943
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 Neoplasm Adrenal cortex carcinoma	Criteria Provided Multiple Submitters No Conflicts	CA16615700	rs_866380588	7 SubmittersRCV000472712 RCV001024481 RCV001358339 RCV002289596 RCV004668979 RCV004000747
NM_000546.6(TP53):c.783-2A>G	SNV Germline	Chr17:7673839	Pathogenic/Likely pathogenic	Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA16615702	rs_1060501207	3 SubmittersRCV000464087 RCV002411441 RCV005421799
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	4 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	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Condition: not provided Li-Fraumeni syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA16615709	rs_786202752	6 SubmittersRCV000492645 RCV000473602 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	Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Ovarian neoplasm Li-Fraumeni syndrome 1 Condition: not provided Adrenal cortex carcinoma Neoplasm	Reviewed By Expert Panel	CA002845	rs_11540654	12 SubmittersRCV000473145 RCV000492590 RCV000785348 RCV002289602 RCV004999438 RCV004000748 RCV005230382
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	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA16615720	rs_1060501203	4 SubmittersRCV000564109 RCV000477098 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	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Li-Fraumeni syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA16615732	rs_1060501195	3 SubmittersRCV000492606 RCV000475325 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	Pathogenic/Likely pathogenic	Li-Fraumeni syndrome Carcinoma of colon Ovarian neoplasm Condition: not provided Hereditary cancer-predisposing syndrome Neoplasm	Criteria Provided Multiple Submitters No Conflicts	CA16615937	rs_1057519984	7 SubmittersRCV000470818 RCV000499361 RCV000785325 RCV000658764 RCV002446795 RCV005230381
NM_000546.6(TP53):c.811G>A (p.Glu271Lys)	SNV Germline	Chr17:7673809	Conflicting classifications of pathogenicity	Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype Condition: not provided	Criteria Provided Conflicting Classifications	CA16615939	rs_1060501191	5 SubmittersRCV000457572 RCV000775714 RCV003315242 RCV001815331
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 12 conditions	Criteria Provided Conflicting Classifications	CA16615964	rs_878854064	4 SubmittersRCV000475451 RCV001010274 RCV002289597 RCV005027507
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 Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA16615992	rs_786202546	6 SubmittersRCV000462950 RCV000506600 RCV000575062 RCV005620944
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_000546.6(TP53):c.992A>G (p.Gln331Arg)	SNV Germline	Chr17:7673536	Conflicting classifications of pathogenicity	Li-Fraumeni syndrome Condition: not provided Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA16620611	rs_1064795056	4 SubmittersRCV001037256 RCV000479182 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 Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1 Neoplasm Hereditary breast ovarian cancer syndrome	Criteria Provided Conflicting Classifications	CA001463	rs_748891343	9 SubmittersRCV000481706 RCV001214612 RCV000568299 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 Li-Fraumeni syndrome Poly (ADP-Ribose) polymerase inhibitor response Li-Fraumeni syndrome 1 Neoplasm	Criteria Provided Multiple Submitters No Conflicts	CA16620615	rs_112431538	7 SubmittersRCV000479542 RCV000492206 RCV000633365 RCV000626449 RCV002289628 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 Ovarian neoplasm not specified Li-Fraumeni syndrome 1 Squamous cell carcinoma of the head and neck Li-Fraumeni syndrome	Criteria Provided Conflicting Classifications	CA16620616	rs_1064793881	9 SubmittersRCV000484876 RCV000492354 RCV000785274 RCV000584418 RCV002289625 RCV000989709 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	Li-Fraumeni syndrome Condition: not provided Li-Fraumeni syndrome 1 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA16620630	rs_1064795691	4 SubmittersRCV000552464 RCV000481512 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 1 Li-Fraumeni syndrome TP53-related disorder	Criteria Provided Conflicting Classifications	CA16620631	rs_1064795860	8 SubmittersRCV000481578 RCV000561574 RCV002289645 RCV000795252 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 Adrenocortical carcinoma, hereditary Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA16620633	rs_1064795139	8 SubmittersRCV000484833 RCV000662907 RCV001052030 RCV004568185 RCV002289639
NM_000546.6(TP53):c.159G>A (p.Trp53Ter)	SNV Germline/somatic	Chr17:7676210	Pathogenic	Condition: not provided Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Li-Fraumeni syndrome 1 Neoplasm Adrenocortical carcinoma, hereditary	Criteria Provided Multiple Submitters No Conflicts	CA16620640	rs_1064794618	8 SubmittersRCV000480240 RCV001012297 RCV001236368 RCV002289632 RCV005230944 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 1 Li-Fraumeni syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA003910	rs_201382018	7 SubmittersRCV000563270 RCV000663228 RCV000548671 RCV001704594
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 TP53-related disorder Neoplasm	Criteria Provided Multiple Submitters No Conflicts	CA10590137	rs_11575996	10 SubmittersRCV000492456 RCV000521745 RCV000685844 RCV002289663 RCV004797613 RCV004669006
NM_000546.6(TP53):c.826G>C (p.Ala276Pro)	SNV Germline/somatic	Chr17:7673794	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Ovarian neoplasm Li-Fraumeni syndrome Adrenocortical carcinoma, hereditary	Criteria Provided Conflicting Classifications	CA397836931	rs_1131691029	4 SubmittersRCV000492584 RCV000785453 RCV000705570 RCV004568619
NM_000546.6(TP53):c.800G>C (p.Arg267Pro)	SNV Germline/somatic	Chr17:7673820	Conflicting classifications of pathogenicity	Acute myeloid leukemia Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome	Criteria Provided Conflicting Classifications	CA397837115	rs_587780075	3 SubmittersRCV003326137 RCV000492273 RCV000691629
NM_000546.6(TP53):c.737T>C (p.Met246Thr)	SNV Germline/somatic	Chr17:7674226	Conflicting classifications of pathogenicity	Li-Fraumeni syndrome Ovarian neoplasm Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA397838998	rs_587780074	4 SubmittersRCV000704600 RCV000785245 RCV000492075 RCV002289671
NM_000546.6(TP53):c.643A>C (p.Ser215Arg)	SNV Germline	Chr17:7674888	Conflicting classifications of pathogenicity	Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA397840019	rs_886039484	3 SubmittersRCV002523445 RCV000492567 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/somatic	Chr17:7675098	Conflicting classifications of pathogenicity	Li-Fraumeni syndrome 1 Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Neoplasm	Criteria Provided Conflicting Classifications	CA397841576	rs_1131691043	5 SubmittersRCV004023284 RCV000492688 RCV002527066 RCV005230967
NM_000546.6(TP53):c.503A>G (p.His168Arg)	SNV Germline	Chr17:7675109	Conflicting classifications of pathogenicity	Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA287488569	rs_867114783	3 SubmittersRCV000702915 RCV000492442 RCV004023278
NM_000546.6(TP53):c.470T>C (p.Val157Ala)	SNV Germline	Chr17:7675142	Conflicting classifications of pathogenicity	Condition: not provided Adrenal cortex carcinoma Li-Fraumeni syndrome 1 Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome	Criteria Provided Conflicting Classifications	CA397842041	rs_1131691023	5 SubmittersRCV002274041 RCV000505579 RCV002289672 RCV000492393 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 Li-Fraumeni syndrome 1 Neoplasm Condition: not provided Ovarian neoplasm	Criteria Provided Multiple Submitters No Conflicts	CA397842363	rs_1131691026	7 SubmittersRCV000492181 RCV000633358 RCV002289674 RCV005230965 RCV005620366 RCV001527473
NM_000546.6(TP53):c.392A>T (p.Asn131Ile)	SNV Germline	Chr17:7675220	Pathogenic/Likely pathogenic	Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA397842926	rs_1131691037	4 SubmittersRCV000821569 RCV000492742 RCV002289677
NM_000546.6(TP53):c.389T>C (p.Leu130Pro)	SNV Germline	Chr17:7675223	Pathogenic	Hereditary cancer-predisposing syndrome 12 conditions	Criteria Provided Multiple Submitters No Conflicts	CA397842949	rs_1131691013	2 SubmittersRCV000492142 RCV002475970
NM_000546.6(TP53):c.376T>A (p.Tyr126Asn)	SNV Germline	Chr17:7675236	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1 Li-Fraumeni syndrome	Criteria Provided Conflicting Classifications	CA397843963	rs_886039483	3 SubmittersRCV000492304 RCV002289664 RCV000801059
NM_000546.6(TP53):c.313G>A (p.Gly105Ser)	SNV Germline/somatic	Chr17:7676056	Pathogenic/Likely pathogenic	Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Adrenal cortex carcinoma Li-Fraumeni syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA397844735	rs_1060501195	4 SubmittersRCV001379190 RCV000492331 RCV004003474 RCV002289669
NM_000546.6(TP53):c.96+1G>C	SNV Germline	Chr17:7676381	Pathogenic/Likely pathogenic	Li-Fraumeni syndrome 1 Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome	Criteria Provided Multiple Submitters No Conflicts	CA397848258	rs_1131691003	4 SubmittersRCV003485592 RCV000492543 RCV002523444
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	Condition: not provided not specified Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome	Criteria Provided Conflicting Classifications	CA397838899	rs_730882027	4 SubmittersRCV001755753 RCV000506798 RCV002395222 RCV001379962
NM_000546.6(TP53):c.617T>C (p.Leu206Ser)	SNV Germline	Chr17:7674914	Conflicting classifications of pathogenicity	not specified Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA397840264	rs_1555525804	3 SubmittersRCV000507226 RCV001049540 RCV000566251
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_000546.6(TP53):c.478A>G (p.Met160Val)	SNV Germline	Chr17:7675134	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Adrenocortical carcinoma, hereditary Li-Fraumeni syndrome 1 Familial cancer of breast Condition: not provided	Criteria Provided Conflicting Classifications	CA397841976	rs_377274728	6 SubmittersRCV000570720 RCV001051011 RCV004568658 RCV005356043 RCV000513585
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 Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA397839073	rs_1057519982	5 SubmittersRCV000523905 RCV002376961 RCV001857954 RCV004023543
NM_000546.6(TP53):c.596G>T (p.Gly199Val)	SNV Germline	Chr17:7674935	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA397840476	rs_1555525857	1 SubmittersRCV000522967
NM_000546.6(TP53):c.128T>A (p.Leu43Ter)	SNV Germline	Chr17:7676241	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA397846898	rs_1555526777	1 SubmittersRCV000521967
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	6 SubmittersRCV000546011 RCV000563243 RCV001544620
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	4 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 Condition: not provided Hereditary cancer-predisposing syndrome Adrenocortical carcinoma, hereditary Neoplasm Li-Fraumeni syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA397842017	rs_1555526131	6 SubmittersRCV000527533 RCV001764539 RCV002341276 RCV003476227 RCV004669032 RCV004023788
NM_000546.6(TP53):c.377A>G (p.Tyr126Cys)	SNV Germline/somatic	Chr17:7675235	Conflicting classifications of pathogenicity	Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Ovarian neoplasm Li-Fraumeni syndrome 1 Condition: not provided Neoplasm	Criteria Provided Conflicting Classifications	CA397843956	rs_1555526335	8 SubmittersRCV000547041 RCV001021115 RCV000785493 RCV002289730 RCV005051792 RCV005231032
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 Ovarian neoplasm Condition: not provided Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA397839547	rs_1555525585	7 SubmittersRCV000553068 RCV000785307 RCV000786824 RCV002289738 RCV002289737
NM_000546.6(TP53):c.530C>G (p.Pro177Arg)	SNV Germline	Chr17:7675082	Pathogenic/Likely pathogenic	Li-Fraumeni syndrome Condition: not provided Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA002428	rs_751477326	6 SubmittersRCV000540639 RCV000582953 RCV000565979 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	5 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 Familial cancer of breast Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA002450	rs_749309577	5 SubmittersRCV000556128 RCV000578979 RCV001023655 RCV005357554
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	3 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.917G>A (p.Arg306Gln)	SNV Germline	Chr17:7673703	Conflicting classifications of pathogenicity	Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Condition: not provided Squamous cell carcinoma of the head and neck Familial cancer of breast not specified Adrenocortical carcinoma, hereditary Familial cancer of breast Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA287486566	rs_1048095040	11 SubmittersRCV000527123 RCV000561902 RCV000986056 RCV000989706 RCV000664300 RCV003330753 RCV004568752 RCV005357556
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 Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1 Adrenocortical carcinoma, hereditary Condition: not provided Neoplasm	Criteria Provided Multiple Submitters No Conflicts	CA397837142	rs_1057519990	7 SubmittersRCV000528667 RCV000785497 RCV001027016 RCV002289744 RCV004568751 RCV004772959 RCV004669033
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.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	4 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	5 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	5 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.825T>G (p.Cys275Trp)	SNV Germline/somatic	Chr17:7673795	Likely pathogenic	Hereditary cancer-predisposing syndrome Ovarian neoplasm	Criteria Provided Single Submitter	CA397836936	rs_1555525279	2 SubmittersRCV000561423 RCV000785448
NM_000546.6(TP53):c.376-4A>T	SNV Germline	Chr17:7675240	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA397843997	rs_1221388024	5 SubmittersRCV000564076 RCV001451701 RCV005620975
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.1048C>T (p.Leu350Phe)	SNV Germline	Chr17:7670661	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome	Criteria Provided Conflicting Classifications	CA397832343	rs_768046010	2 SubmittersRCV000562474 RCV005056206
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/somatic	Chr17:7674225	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Hereditary breast ovarian cancer syndrome Neoplasm	Criteria Provided Multiple Submitters No Conflicts	CA287487993	rs_1019340046	4 SubmittersRCV000561491 RCV000633390 RCV003483672 RCV005231087
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 Familial cancer of breast Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA397845138	rs_1210700121	7 SubmittersRCV000566433 RCV000811514 RCV002289782 RCV005357651
NM_000546.6(TP53):c.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 Ovarian neoplasm Condition: not provided Li-Fraumeni syndrome Lip and oral cavity carcinoma Li-Fraumeni syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA287488727	rs_868137297	10 SubmittersRCV000570638 RCV000785531 RCV000786836 RCV000800144 RCV001255670 RCV002289803
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.973G>A (p.Gly325Arg)	SNV Germline	Chr17:7673555	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome not specified	Criteria Provided Conflicting Classifications	CA397835820	rs_863224500	2 SubmittersRCV000568856 RCV002509444
NM_000546.6(TP53):c.920-3T>C	SNV Germline	Chr17:7673611	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1 Li-Fraumeni syndrome	Criteria Provided Conflicting Classifications	CA658656531	rs_1367689213	5 SubmittersRCV000565754 RCV002289841 RCV005601013
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_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 Condition: not provided	Criteria Provided Conflicting Classifications	CA397845525	rs_1555526664	6 SubmittersRCV000573848 RCV002528018 RCV005241380
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.742C>T (p.Arg248Trp)

SNV
Germline/somatic

Chr17:7674221

Pathogenic

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

Reviewed By Expert Panel

CA000382

rs_121912651

35 SubmittersRCV000013140 RCV000115735 RCV000168242 RCV000213057 RCV000438698 RCV000785485 RCV001255674 RCV001271100 RCV001374442 RCV003149569 RCV003105772 RCV003162243 RCV003318332 RCV003460463 RCV005357116 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
Ovarian neoplasm
Li-Fraumeni syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA000406

rs_121912652

9 SubmittersRCV000013141 RCV000161071 RCV000582699 RCV000772122 RCV000785291 RCV000792895

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

SNV
Germline/somatic

Chr17:7674230

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA000369

rs_28934575

8 SubmittersRCV000013142 RCV000161025 RCV000633397 RCV000492412 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
Neoplasm

Criteria Provided
Multiple Submitters
No Conflicts

CA000392

rs_28934571

12 SubmittersRCV000013145 RCV000013146 RCV000464372 RCV000579519 RCV000785491 RCV001270276 RCV001562247 RCV004018617 RCV003996089 RCV005229780

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

SNV
Germline/somatic

Chr17:7675143

Pathogenic/Likely pathogenic

Hepatocellular carcinoma
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Ovarian neoplasm
Neoplasm
Li-Fraumeni syndrome 1
Squamous cell carcinoma
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA000222

rs_121912654

9 SubmittersRCV000013147 RCV000566103 RCV000794324 RCV000785500 RCV004668716 RCV001823095 RCV003128570 RCV005229781

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

Criteria Provided
Multiple Submitters
No Conflicts

CA000371

rs_121912656

11 SubmittersRCV000013149 RCV000206683 RCV000164465 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
Condition: not provided
Li-Fraumeni syndrome
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
TP53-related disorder
Adrenal cortex carcinoma
Hereditary breast ovarian cancer syndrome
Colorectal cancer
12 conditions

Reviewed By Expert Panel

CA000387

rs_11540652

44 SubmittersRCV000013150 RCV000115736 RCV000148913 RCV000235221 RCV000197114 RCV000424869 RCV000426606 RCV000763417 RCV000790860 RCV000785344 RCV001255671 RCV001257519 RCV001270275 RCV001554245 RCV001527465 RCV003162244 RCV003332079 RCV003466852 RCV004745155 RCV003996090 RCV004794335 RCV004813032 RCV005016259

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

6 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
Condition: not provided
12 conditions
Neoplasm

Criteria Provided
Multiple Submitters
No Conflicts

CA000359

rs_28934573

11 SubmittersRCV000013154 RCV000013153 RCV000130168 RCV000559355 RCV000785290 RCV001255673 RCV002288485 RCV003114189 RCV002496336 RCV004668717

NM_000546.6(TP53):c.358A>T (p.Lys120Ter)

SNV
Germline

Chr17:7676011

Pathogenic

Li-fraumeni-like syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Single Submitter

CA000132

rs_121912658

2 SubmittersRCV000013158 RCV005400693

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

SNV
Germline/somatic

Chr17:7673776

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA000454

rs_28934574

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

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
Astrocytoma, anaplastic
Atypical teratoid rhabdoid tumor
Ovarian neoplasm
Familial ovarian cancer
Colorectal cancer
Breast carcinoma
Malignant tumor of urinary bladder
12 conditions
Adrenocortical carcinoma, hereditary
Gastric cancer
TP53-related disorder
See cases

Reviewed By Expert Panel

CA000367

rs_28934575

34 SubmittersRCV000013162 RCV000148909 RCV000154014 RCV000130147 RCV000144669 RCV000226657 RCV000588736 RCV000587017 RCV000785316 RCV001354825 RCV001270274 RCV001642222 RCV003332080 RCV002496337 RCV003460464 RCV003162245 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
Condition: not provided
Squamous cell carcinoma of the head and neck
Lung adenocarcinoma
Neoplasm
Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Ovarian neoplasm
Malignant tumor of breast
Familial cancer of breast
Colorectal cancer
Multiple myeloma
Rhabdomyosarcoma
Gastric cancer
Adrenocortical carcinoma, hereditary
Breast and/or ovarian cancer
12 conditions
TP53-related disorder

Reviewed By Expert Panel

CA000434

rs_28934576

38 SubmittersRCV000013163 RCV000013164 RCV000254693 RCV000422097 RCV000431361 RCV000441169 RCV000463420 RCV000115738 RCV000785345 RCV001358389 RCV001527484 RCV001527470 RCV001257517 RCV003162246 RCV003466853 RCV003492292 RCV005003353 RCV004797590

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

SNV
Germline

Chr17:7673554

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA000516

rs_121912659

8 SubmittersRCV000013166 RCV000013165 RCV000232570 RCV000131411 RCV001508433

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

SNV
Germline/somatic

Chr17:7673781

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA000445

rs_121912660

6 SubmittersRCV000013167 RCV000198779 RCV000423074 RCV003332081 RCV004018618 RCV002433452

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

SNV
Germline/somatic

Chr17:7675161

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA000198

rs_28934874

8 SubmittersRCV000013168 RCV000130617 RCV000520731 RCV000691152 RCV002288486 RCV004566739 RCV001257524

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

10 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
Li-Fraumeni syndrome
Condition: not provided
Malignant tumor of esophagus
Neoplasm
Ovarian neoplasm
Lip and oral cavity carcinoma
Squamous cell carcinoma of the head and neck
Familial cancer of breast
Colorectal cancer
Gastric cancer
12 conditions
Adrenocortical carcinoma, hereditary
TP53-related disorder

Reviewed By Expert Panel

CA000251

rs_28934578

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

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

SNV
Germline/somatic

Chr17:7670678

Likely pathogenic

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

Reviewed By Expert Panel

CA000021

rs_121912662

7 SubmittersRCV000013174 RCV000991141 RCV003996091 RCV002390102 RCV003473083

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

SNV
Germline

Chr17:7675200

Likely pathogenic

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

Reviewed By Expert Panel

CA000166

rs_28934875

5 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
Condition: not provided
Breast neoplasm
Li-Fraumeni syndrome 1
Adrenocortical carcinoma, hereditary
Squamous cell carcinoma of the head and neck
Hereditary breast ovarian cancer syndrome
12 conditions
Gastric cancer
TP53-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA000013

rs_121912664

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

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

SNV
Germline

Chr17:7674965

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA000270

rs_121912665

13 SubmittersRCV000132058 RCV000013182 RCV001192620 RCV001030736 RCV000144671 RCV000536677 RCV003476892 RCV005357117

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/somatic

Chr17:7673766

Pathogenic

ADRENOCORTICAL CARCINOMA, PEDIATRIC
Choroid plexus carcinoma
Li-Fraumeni syndrome
Neoplasm

Criteria Provided
Single Submitter

CA000463

rs_121912667

3 SubmittersRCV000013184 RCV000013185 RCV000813961 RCV005229782

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

5 SubmittersRCV000032610 RCV000692266 RCV004786286

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

SNV
Germline

Chr17:7676564

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
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 SubmittersRCV000161016 RCV000034640 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

8 SubmittersRCV000036529 RCV000255021 RCV000468537 RCV000492626 RCV003315555

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

SNV
Germline/somatic

Chr17:7674945

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA000282

rs_397516435

21 SubmittersRCV000131510 RCV000205265 RCV000412710 RCV000785329 RCV001527464 RCV002288535 RCV004797592 RCV003473274 RCV005357264

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

SNV
Germline/somatic

Chr17:7674894

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA000301

rs_397516436

17 SubmittersRCV000036532 RCV000115730 RCV000144672 RCV000213050 RCV000785330 RCV001270263 RCV001270264 RCV001270265 RCV004797593 RCV005229850

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

SNV
Germline/somatic

Chr17:7673803

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA000432

rs_121913343

26 SubmittersRCV000131966 RCV000144665 RCV000205625 RCV000254692 RCV000149051 RCV000431786 RCV004595896 RCV003466889 RCV004745172 RCV000785470

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
Li-Fraumeni syndrome 1
Familial cancer of breast
Neoplasm

Criteria Provided
Multiple Submitters
No Conflicts

CA000500

rs_397516439

12 SubmittersRCV000036537 RCV000132190 RCV000483617 RCV000785489 RCV001798102 RCV002288536 RCV005357265 RCV005229851

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

10 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
12 conditions

Criteria Provided
Conflicting Classifications

CA000284

rs_483352697

7 SubmittersRCV000087172 RCV001024636 RCV001523825 RCV002514536 RCV005016380

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_000546.6(TP53):c.887A>G (p.His296Arg)

SNV
Somatic

Chr17:7673733

Likely pathogenic

Condition: not provided

No Assertion Criteria Provided

CA000476

rs_483352696

1 SubmittersRCV000087174

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

SNV
Germline

Chr17:7676196

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA000061

rs_144386518

13 SubmittersRCV000115715 RCV000122181 RCV000662515 RCV000586104 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

12 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
12 conditions

Criteria Provided
Conflicting Classifications

CA000214

rs_563378859

13 SubmittersRCV000115721 RCV000213051 RCV000232885 RCV000409094 RCV000764146 RCV002465516 RCV003467058 RCV005016392

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
Li-Fraumeni syndrome 1
Lip and oral cavity carcinoma
not specified
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA000225

rs_587780068

13 SubmittersRCV000115723 RCV000508084 RCV000533951 RCV002288596 RCV001255633 RCV005055584 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
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1
Ovarian neoplasm
Adrenocortical carcinoma, hereditary
Hereditary cancer-predisposing syndrome
Neoplasm

Criteria Provided
Multiple Submitters
No Conflicts

CA000256

rs_587780070

11 SubmittersRCV000115726 RCV000555493 RCV000663095 RCV000785312 RCV003460828 RCV002288597 RCV004668781

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
Neoplasm

Criteria Provided
Multiple Submitters
No Conflicts

CA000278

rs_587780071

7 SubmittersRCV000115728 RCV001377420 RCV002288599 RCV002288598 RCV003997297 RCV005229909

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
Adrenocortical carcinoma, hereditary
12 conditions
TP53-related disorder

Criteria Provided
Conflicting Classifications

CA000288

rs_587780072

13 SubmittersRCV000115729 RCV000473040 RCV000563913 RCV001257499 RCV004567015 RCV005016394 RCV004724809

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

SNV
Germline/somatic

Chr17:7674872

Pathogenic

Hereditary cancer-predisposing syndrome
Squamous cell carcinoma of the head and neck
Condition: not provided
Li-Fraumeni syndrome
Ovarian neoplasm
B-cell chronic lymphocytic leukemia
12 conditions
Li-Fraumeni syndrome 1
Breast carcinoma
Gastric cancer
TP53-related disorder
Adrenocortical carcinoma, hereditary
Adrenal cortex carcinoma
Neoplasm

Reviewed By Expert Panel

CA000315

rs_121912666

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

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

SNV
Germline/somatic

Chr17:7674262

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA000337

rs_587780073

11 SubmittersRCV000200601 RCV000115732 RCV000492245 RCV000785536 RCV001808343 RCV005229910

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

17 SubmittersRCV000115742 RCV000122173 RCV000123100 RCV000409871 RCV000586196 RCV001030741 RCV003492490 RCV003945046

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

SNV
Germline

Chr17:7674926

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA000289

rs_587778719

7 SubmittersRCV000122175 RCV000459232 RCV001030735 RCV000567735 RCV001358628

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

SNV
Germline/somatic

Chr17:7674893

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA000302

rs_587778720

25 SubmittersRCV000123099 RCV000122176 RCV000130072 RCV000420734 RCV000144664 RCV000626448 RCV001255672 RCV003460862 RCV001798386 RCV004745203

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

SNV
Germline/somatic

Chr17:7675190

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA000174

rs_587781288

8 SubmittersRCV000128975 RCV000785510 RCV000472876 RCV001582600 RCV002288619 RCV004668787

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

SNV
Germline/somatic

Chr17:7673776

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA000453

rs_28934574

6 SubmittersRCV000129010 RCV004719707 RCV001380073 RCV000785299 RCV002288620

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

SNV
Germline

Chr17:7674889

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA000305

rs_587781386

12 SubmittersRCV000195927 RCV000129218 RCV000410083 RCV001283869 RCV005600705 RCV002267869

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 1
Li-Fraumeni syndrome

Criteria Provided
Conflicting Classifications

CA000102

rs_587781504

7 SubmittersRCV000129479 RCV000201000 RCV002288625 RCV000228756

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

SNV
Germline

Chr17:7673778

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA000450

rs_587781525

6 SubmittersRCV000129516 RCV002288626 RCV000633367 RCV003237737

NM_000546.6(TP53):c.695T>C (p.Ile232Thr)

SNV
Germline

Chr17:7674268

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA000331

rs_587781589

4 SubmittersRCV000129637 RCV000582737 RCV002510789 RCV005089636

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

Criteria Provided
Conflicting Classifications

CA000032

rs_587781663

7 SubmittersRCV000129812 RCV000581885 RCV001753512 RCV002512534 RCV002288630

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

Criteria Provided
Multiple Submitters
No Conflicts

CA000499

rs_587781702

7 SubmittersRCV000129871 RCV000421521 RCV001235868 RCV000785548 RCV002288632

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

7 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
Lip and oral cavity carcinoma
11 conditions
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1
Breast and/or ovarian cancer
TP53-related disorder
Familial cancer of breast
Adrenocortical carcinoma, hereditary
Familial cancer of breast
Li-Fraumeni syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA000423

rs_55832599

22 SubmittersRCV000130398 RCV000413074 RCV001255676 RCV000763416 RCV000538977 RCV002288637 RCV003149899 RCV004797597 RCV002247507 RCV003460927 RCV005359236

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_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
Li-Fraumeni syndrome 1

Criteria Provided
Conflicting Classifications

CA000082

rs_201717599

3 SubmittersRCV000130694 RCV001303642 RCV002288640

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

SNV
Germline

Chr17:7675139

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA000227

rs_587782144

29 SubmittersRCV000130708 RCV000227859 RCV000255654 RCV000496787 RCV001257522 RCV003492603 RCV004796030 RCV004797598 RCV003461996

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
12 conditions

Criteria Provided
Conflicting Classifications

CA000088

rs_587782148

7 SubmittersRCV000130712 RCV000478688 RCV000633343 RCV002247510 RCV005016445

NM_000546.6(TP53):c.391A>T (p.Asn131Tyr)

SNV
Germline

Chr17:7675221

Pathogenic

Hereditary cancer-predisposing syndrome

Criteria Provided
Single Submitter

CA000154

rs_587782160

1 SubmittersRCV000130751

NM_000546.6(TP53):c.644G>C (p.Ser215Thr)

SNV
Germline

Chr17:7674887

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA000307

rs_587782177

4 SubmittersRCV000130796 RCV001058920 RCV002288641

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
Li-Fraumeni syndrome 1

Criteria Provided
Conflicting Classifications

CA000027

rs_587782237

3 SubmittersRCV000130938 RCV001229943 RCV002288643

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

Criteria Provided
Multiple Submitters
No Conflicts

CA000495

rs_121913344

20 SubmittersRCV000130997 RCV000232963 RCV000356380 RCV000785333 RCV001310214 RCV001255680 RCV002307404 RCV003322599 RCV003162584 RCV004668794

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

SNV
Germline

Chr17:7670716

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA000528

rs_587782272

7 SubmittersRCV000131124 RCV000786811 RCV003992194 RCV001380070 RCV002288645

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

6 SubmittersRCV000131246 RCV000724753 RCV001857457 RCV002288647

NM_000546.6(TP53):c.542G>A (p.Arg181His)

SNV
Germline/somatic

Chr17:7675070

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA000259

rs_397514495

27 SubmittersRCV000168247 RCV000131382 RCV000255239 RCV000576528 RCV001391195 RCV000989718 RCV001527471 RCV005089647 RCV003462011 RCV004745211

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_000546.6(TP53):c.1009C>T (p.Arg337Cys)

SNV
Germline/somatic

Chr17:7670700

Pathogenic

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

Reviewed By Expert Panel

CA000010

rs_587782529

14 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
Condition: not provided
not specified
Li-Fraumeni syndrome 1

Criteria Provided
Conflicting Classifications

CA000030

rs_35993958

10 SubmittersRCV000131746 RCV000195550 RCV001284721 RCV002267882 RCV005359280

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

SNV
Germline/somatic

Chr17:7675071

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA000257

rs_587782596

8 SubmittersRCV000131943 RCV000168292 RCV000236276 RCV003474780 RCV004544301 RCV005229969

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

SNV
Germline

Chr17:7675185

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA000176

rs_587782620

10 SubmittersRCV000132003 RCV000227179 RCV000409072 RCV000413546 RCV001354661 RCV001560552 RCV003474783 RCV005025218

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

SNV
Germline

Chr17:7676576

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA000065

rs_587782646

5 SubmittersRCV000132048 RCV001559782 RCV001364215 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
Li-Fraumeni syndrome 1

Criteria Provided
Conflicting Classifications

CA000493

rs_587782654

5 SubmittersRCV000132069 RCV001050775 RCV002288653

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

SNV
Germline/somatic

Chr17:7674252

Pathogenic

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

Reviewed By Expert Panel

CA000349

rs_587782664

13 SubmittersRCV000132084 RCV000785336 RCV001271055 RCV000464261 RCV000581940 RCV001527088 RCV004668799 RCV001567943 RCV003462031

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

SNV
Germline/somatic

Chr17:7675157

Pathogenic

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

Reviewed By Expert Panel

CA000204

rs_587782705

19 SubmittersRCV000677669 RCV000755703 RCV000132156 RCV000168122 RCV001270267 RCV000583667 RCV001255632 RCV003462034 RCV004668801 RCV004797600

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
Condition: not provided
Li-Fraumeni syndrome 1

Reviewed By Expert Panel

CA000015

rs_121912664

6 SubmittersRCV000132259 RCV000785297 RCV005606648 RCV003237742 RCV002288655

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 1
Li-Fraumeni syndrome
Familial cancer of breast
Li-Fraumeni syndrome 1
TP53-related disorder

Criteria Provided
Conflicting Classifications

CA000017

rs_17882252

12 SubmittersRCV000132285 RCV000254694 RCV001030734 RCV001127282 RCV001081368 RCV005359297 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 1
Li-Fraumeni syndrome

Criteria Provided
Conflicting Classifications

CA000060

rs_587782776

7 SubmittersRCV000132310 RCV000411346 RCV002514753

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

SNV
Germline

Chr17:7673833

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA000419

rs_72661119

11 SubmittersRCV000679373 RCV000132389 RCV000663318 RCV005229972 RCV000474969

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

Criteria Provided
Conflicting Classifications

CA000317

rs_146340390

17 SubmittersRCV000161032 RCV000989715 RCV000148907 RCV001798464 RCV000411498 RCV000213056 RCV001002287 RCV003905279

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

SNV
Germline/somatic

Chr17:7673781

Conflicting classifications of pathogenicity

Prostate cancer
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

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

Criteria Provided
Multiple Submitters
No Conflicts

CA000421

rs_193920774

10 SubmittersRCV000421625 RCV000255749 RCV000149050 RCV000492556 RCV000785456 RCV002288661 RCV000709403 RCV004668807

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

SNV
Germline/somatic

Chr17:7674249

Pathogenic/Likely pathogenic

Prostate cancer
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

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

Criteria Provided
Multiple Submitters
No Conflicts

CA000234

rs_193920817

9 SubmittersRCV000161027 RCV000214033 RCV000149053 RCV000785328 RCV000761073 RCV000473543 RCV003474797

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

SNV
Germline/somatic

Chr17:7674241

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA000357

rs_28934573

7 SubmittersRCV000154419 RCV000236210 RCV000492778 RCV000785321 RCV002288664

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

SNV
Germline

Chr17:7670699

Likely pathogenic

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

Reviewed By Expert Panel

CA000014

rs_121912664

6 SubmittersRCV000154527 RCV001187412 RCV002288666

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
Rhabdomyosarcoma
Breast and/or ovarian cancer
Prostate cancer
Glioma susceptibility 1
Li-Fraumeni syndrome 1
TP53-related disorder
Adrenocortical carcinoma, hereditary
Neoplasm

Criteria Provided
Multiple Submitters
No Conflicts

CA000144

rs_55863639

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

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

SNV
Germline/somatic

Chr17:7670685

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA000019

rs_730882029

22 SubmittersRCV000161074 RCV000213069 RCV000785301 RCV000549233 RCV001374440 RCV001554321 RCV003474838 RCV005230001 RCV002288707 RCV004797601 RCV002492644

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
12 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA000452

rs_587781525

5 SubmittersRCV000161072 RCV000215048 RCV000799325 RCV002288706 RCV005016484

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

7 SubmittersRCV000161049 RCV000580153 RCV000663058 RCV002053940

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

SNV
Germline

Chr17:7674211

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA000396

rs_730882027

4 SubmittersRCV000161070 RCV004019947 RCV003621508 RCV004019946

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

Criteria Provided
Multiple Submitters
No Conflicts

CA000351

rs_730882005

13 SubmittersRCV000161034 RCV000167907 RCV000235220 RCV000785261 RCV001374444 RCV002288693 RCV003462109 RCV004668817 RCV004794368

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

Criteria Provided
Conflicting Classifications

CA000346

rs_730882026

3 SubmittersRCV000161069 RCV002288705 RCV002288704 RCV001373091

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
Ovarian neoplasm
Li-Fraumeni syndrome 1
Adrenocortical carcinoma, hereditary
Neoplasm

Criteria Provided
Multiple Submitters
No Conflicts

CA000308

rs_730882025

14 SubmittersRCV000161067 RCV000168150 RCV000561534 RCV000583984 RCV000785523 RCV000663213 RCV003474837 RCV004668819

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

SNV
Germline

Chr17:7674956

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA000273

rs_730882002

5 SubmittersRCV000161029 RCV002288689 RCV001024490 RCV001371035 RCV003462108

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

SNV
Germline

Chr17:7675088

Likely pathogenic

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

Reviewed By Expert Panel

CA000252

rs_28934578

5 SubmittersRCV000161065 RCV002288703 RCV000810785

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

Criteria Provided
Multiple Submitters
No Conflicts

CA000243

rs_730882001

11 SubmittersRCV000161028 RCV000219202 RCV000633373 RCV001255634 RCV001270262 RCV000785484 RCV002288688 RCV002272147

NM_000546.6(TP53):c.475G>C (p.Ala159Pro)

SNV
Germline/somatic

Chr17:7675137

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA000233

rs_730882000

6 SubmittersRCV000161026 RCV000785272 RCV001321871 RCV002288687 RCV002288686 RCV004668816

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

SNV
Germline/somatic

Chr17:7675232

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA000148

rs_730881999

10 SubmittersRCV000161024 RCV000606528 RCV000785332 RCV003162681 RCV004019945 RCV000633384 RCV003474836

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

SNV
Germline

Chr17:7676080

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA000092

rs_730882023

6 SubmittersRCV000161064 RCV001850278 RCV002288702 RCV002288701

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.649G>A (p.Val217Met)

SNV
Germline

Chr17:7674882

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
12 conditions
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA000309

rs_35163653

4 SubmittersRCV000161936 RCV005025252 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
Li-Fraumeni syndrome 1

Criteria Provided
Conflicting Classifications

CA000043

rs_749061599

6 SubmittersRCV000166233 RCV000559034 RCV002288759

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

SNV
Germline

Chr17:7670631

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA000028

rs_786203298

7 SubmittersRCV000166545 RCV001241003 RCV003416041 RCV001567714 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

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

Criteria Provided
Conflicting Classifications

CA000502

rs_34361146

10 SubmittersRCV000164926 RCV000587880 RCV001087552 RCV001283870 RCV005620910

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

SNV
Germline/somatic

Chr17:7673764

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA000464

rs_786201059

8 SubmittersRCV000162466 RCV000255724 RCV000466372 RCV002288710 RCV004668822 RCV004813066

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

SNV
Germline/somatic

Chr17:7673790

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA000438

rs_763098116

9 SubmittersRCV000254809 RCV000456858 RCV000165199 RCV001357202 RCV005230009 RCV003474865

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
Li-Fraumeni syndrome 1
Ovarian neoplasm
Familial pancreatic carcinoma
Li-Fraumeni syndrome 1
Condition: not provided
Neoplasm

Reviewed By Expert Panel

CA000427

rs_121912657

11 SubmittersRCV000165304 RCV000457645 RCV001527085 RCV000785341 RCV005365079 RCV002243833 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.615T>A (p.Tyr205Ter)

SNV
Germline

Chr17:7674916

Pathogenic

Hereditary cancer-predisposing syndrome

Criteria Provided
Single Submitter

CA000298

rs_786202222

1 SubmittersRCV000164938

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
Li-Fraumeni syndrome 1
Ovarian neoplasm

Criteria Provided
Conflicting Classifications

CA000276

rs_786201838

5 SubmittersRCV000165315 RCV000697802 RCV004019975 RCV000785542

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
Adrenocortical carcinoma, hereditary
Li-Fraumeni syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA000274

rs_786201838

9 SubmittersRCV000164329 RCV000255425 RCV000429618 RCV000460847 RCV000785346 RCV003474857 RCV002288732

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

SNV
Germline/somatic

Chr17:7675085

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA000254

rs_786202962

9 SubmittersRCV000166045 RCV000255616 RCV000461158 RCV001354219 RCV002288754 RCV003407616 RCV003474872 RCV003128588 RCV003995473

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
Li-Fraumeni syndrome
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA000210

rs_786202752

6 SubmittersRCV000165724 RCV000804037 RCV000986051 RCV001192618

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

SNV
Germline/somatic

Chr17:7675181

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA000182

rs_786203071

4 SubmittersRCV000166212 RCV000785331 RCV001850338 RCV002288758

NM_000546.6(TP53):c.419C>A (p.Thr140Asn)

SNV
Germline

Chr17:7675193

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA000172

rs_786202561

3 SubmittersRCV000165423 RCV004804749

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

SNV
Germline/somatic

Chr17:7675199

Likely pathogenic

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

Reviewed By Expert Panel

CA000168

rs_750600586

6 SubmittersRCV000164195 RCV000813957 RCV003474852 RCV003995323 RCV004019963

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
TP53-related disorder
Familial pancreatic carcinoma
Li-Fraumeni syndrome 1
Neoplasm

Criteria Provided
Conflicting Classifications

CA000140

rs_786201057

19 SubmittersRCV000162461 RCV000237013 RCV000457119 RCV000576336 RCV003462117 RCV004797602 RCV005365056 RCV004668821

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

SNV
Germline

Chr17:7676064

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA000098

rs_786202717

7 SubmittersRCV000165667 RCV000819967 RCV004721282 RCV002288749

NM_000546.6(TP53):c.141G>A (p.Pro47=)

SNV
Germline

Chr17:7676228

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA000054

rs_201741778

9 SubmittersRCV000164165 RCV000206130 RCV001818374 RCV001704191 RCV002288727

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

SNV
Germline

Chr17:7676269

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA000012

rs_786201968

7 SubmittersRCV000165887 RCV000205889 RCV000483753 RCV002288753 RCV005230011

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

7 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
Li-Fraumeni syndrome 1
TP53-related disorder

Criteria Provided
Conflicting Classifications

CA000323

rs_748527030

10 SubmittersRCV000163369 RCV000196762 RCV000483133 RCV000989728 RCV001174848 RCV005620908 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
Li-Fraumeni syndrome 1

Criteria Provided
Conflicting Classifications

CA000304

rs_1800369

13 SubmittersRCV000163241 RCV000196365 RCV000430891 RCV000590622 RCV001270281 RCV003492674 RCV005620907

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

SNV
Germline

Chr17:7670622

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA000033

rs_745751553

5 SubmittersRCV000168038 RCV000483595 RCV002288772 RCV002288771

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

SNV
Germline/somatic

Chr17:7674942

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA000285

rs_786204041

7 SubmittersRCV000167874 RCV001024656 RCV002288770 RCV005230025

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

SNV
Germline

Chr17:7674980

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA000269

rs_794727781

6 SubmittersRCV000179330 RCV001046951 RCV002288782 RCV002288783

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

SNV
Germline/somatic

Chr17:7670684

Pathogenic

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

Reviewed By Expert Panel

CA337802

rs_375338359

8 SubmittersRCV000198319 RCV000213216 RCV000785264 RCV002288808 RCV001538204

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
Ovarian neoplasm
Li-Fraumeni syndrome 1
Breast carcinoma
Adrenocortical carcinoma, hereditary
Acute myeloid leukemia
Neoplasm

Criteria Provided
Multiple Submitters
No Conflicts

CA337141

rs_863224451

13 SubmittersRCV000197359 RCV000235315 RCV000568594 RCV000785533 RCV002288809 RCV001610519 RCV003468892 RCV003320135 RCV004668842

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

Criteria Provided
Multiple Submitters
No Conflicts

CA339249

rs_863224499

9 SubmittersRCV000200333 RCV000786828 RCV002288814 RCV004668847 RCV003474954 RCV002288813

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

SNV
Germline/somatic

Chr17:7674947

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA002232

rs_760043106

16 SubmittersRCV000198789 RCV000785324 RCV000487386 RCV001271054 RCV000421097 RCV001024600 RCV002288812 RCV004668846 RCV004725053 RCV003474953 RCV005361139

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_000546.6(TP53):c.700T>G (p.Tyr234Asp)

SNV
Germline

Chr17:7674263

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA348450

rs_864622237

4 SubmittersRCV000204217 RCV000492197 RCV004020511

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/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA353535

rs_869312782

5 SubmittersRCV000210192 RCV002288839 RCV001853361 RCV005230093

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

SNV
Germline/somatic

Chr17:7675095

Pathogenic

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

Reviewed By Expert Panel

CA10577579

rs_876660754

11 SubmittersRCV000214341 RCV000223396 RCV000785308 RCV001255635 RCV004797606 RCV000477355 RCV005230127

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
12 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA10580902

rs_876658982

8 SubmittersRCV000222547 RCV000466199 RCV001252683 RCV001535521 RCV005016585

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
Familial cancer of breast
Li-Fraumeni syndrome 1

Criteria Provided
Conflicting Classifications

CA000790

rs_773553186

9 SubmittersRCV000219841 RCV000249541 RCV000463320 RCV001557066 RCV005365151

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

SNV
Germline/somatic

Chr17:7673552

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA10580908

rs_876659384

6 SubmittersRCV000218971 RCV000633385 RCV000785490 RCV002288871 RCV005230117

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

Criteria Provided
Multiple Submitters
No Conflicts

CA10580915

rs_876659802

5 SubmittersRCV000214784 RCV000785311 RCV001541668 RCV001042706 RCV001374441

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
Li-Fraumeni syndrome 1
Neoplasm

Criteria Provided
Conflicting Classifications

CA10580916

rs_786202082

6 SubmittersRCV000223364 RCV000236401 RCV002515676 RCV002288879 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
Ovarian neoplasm
Li-Fraumeni syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA10580917

rs_28934576

5 SubmittersRCV000222860 RCV000553607 RCV000785460 RCV002288863

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

Criteria Provided
Conflicting Classifications

CA10580926

rs_876660807

7 SubmittersRCV000223044 RCV000560536 RCV001355898 RCV003137828 RCV003475037 RCV004020697

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
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA10580932

rs_587778720

6 SubmittersRCV000220461 RCV000506128 RCV002288865 RCV002518297 RCV004668856 RCV005241348

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/somatic

Chr17:7674944

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA10580934

rs_483352697

6 SubmittersRCV000216410 RCV003114386 RCV004020663 RCV005230113

NM_000546.6(TP53):c.586C>G (p.Arg196Gly)

SNV
Germline

Chr17:7674945

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10580935

rs_397516435

3 SubmittersRCV000217052 RCV000230517 RCV002288876

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

SNV
Germline/somatic

Chr17:7674954

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA10580936

rs_876658468

6 SubmittersRCV000221478 RCV000412758 RCV000809571 RCV002288851 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.401T>G (p.Phe134Cys)

SNV
Germline

Chr17:7675211

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA002638

rs_780442292

3 SubmittersRCV000214547 RCV000656580 RCV005600832

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

SNV
Germline

Chr17:7676040

Pathogenic

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

Reviewed By Expert Panel

CA10580948

rs_11540654

7 SubmittersRCV000222678 RCV000231991 RCV002288889 RCV003462528 RCV004698486

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

SNV
Germline/somatic

Chr17:7676096

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA10580953

rs_876660548

9 SubmittersRCV000220815 RCV000657656 RCV000785284 RCV001028065 RCV000233967

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.1009C>G (p.Arg337Gly)

SNV
Germline

Chr17:7670700

Likely pathogenic

Li-Fraumeni syndrome

Reviewed By Expert Panel

CA10583674

rs_587782529

2 SubmittersRCV000226515

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
Malignant tumor of breast
Adrenocortical carcinoma, hereditary
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10575441

rs_730882008

14 SubmittersRCV000226273 RCV000235474 RCV000492420 RCV000709768 RCV000767028 RCV001357626 RCV003463657 RCV003483584

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.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

5 SubmittersRCV000228072 RCV001357802 RCV002256136

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_000546.6(TP53):c.981T>G (p.Tyr327Ter)

SNV
Germline

Chr17:7673547

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA10584585

rs_879254077

1 SubmittersRCV000235861

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

SNV
Germline

Chr17:7673826

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA10584586

rs_879253942

7 SubmittersRCV000554509 RCV000235981 RCV000564617 RCV001257518 RCV000662855

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

SNV
Germline

Chr17:7674265

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10584588

rs_879254233

4 SubmittersRCV000235730 RCV001302749 RCV002288936 RCV000569303

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

Reviewed By Expert Panel

CA10584590

rs_879253911

6 SubmittersRCV000235571 RCV000492319 RCV000544036 RCV004797607

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

SNV
Germline

Chr17:7675122

Pathogenic

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

Reviewed By Expert Panel

CA10584591

rs_879254249

5 SubmittersRCV000235745 RCV000541487 RCV002288938 RCV002288937

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
Li-Fraumeni syndrome 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA10584592

rs_587782144

6 SubmittersRCV000236862 RCV000548853 RCV000989719 RCV002288931 RCV002288932

NM_000546.6(TP53):c.97-2A>G

SNV
Germline

Chr17:7676274

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA10584595

rs_879254212

3 SubmittersRCV000236029 RCV004725126 RCV005420928

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

SNV
Germline

Chr17:7675045

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA002364

rs_775915220

6 SubmittersRCV000253181 RCV000726139 RCV001078796 RCV005620932

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
not specified
Ovarian neoplasm
Li-Fraumeni syndrome 1

Criteria Provided
Conflicting Classifications

CA10588671

rs_886039484

8 SubmittersRCV000255449 RCV000700891 RCV000772138 RCV002282093 RCV000785239 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
Hereditary cancer-predisposing syndrome
Condition: not provided
TP53-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA001891

rs_374907737

6 SubmittersRCV000409763 RCV002288981 RCV001810875 RCV003892009 RCV001796970

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

Criteria Provided
Multiple Submitters
No Conflicts

CA16602985

rs_587781991

4 SubmittersRCV000425788 RCV000492398 RCV001203469 RCV004022199

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>A (p.Cys135Ser)

SNV
Germline

Chr17:7675209

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome

Criteria Provided
Conflicting Classifications

CA16602988

rs_1057519975

2 SubmittersRCV005502792 RCV000814994

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

SNV
Germline/somatic

Chr17:7675209

Pathogenic

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

Reviewed By Expert Panel

CA16602989

rs_1057519975

4 SubmittersRCV000570655 RCV000991142 RCV000785515 RCV004022201

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

SNV
Germline

Chr17:7675189

Pathogenic/Likely pathogenic

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA16602990

rs_1057519977

2 SubmittersRCV000467641 RCV000492201

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

SNV
Germline

Chr17:7675191

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome

Criteria Provided
Conflicting Classifications

CA16602991

rs_1057519978

2 SubmittersRCV002328907 RCV001861481

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
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA16602994

rs_587781288

3 SubmittersRCV000435499 RCV001214540 RCV005502793

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

SNV
Germline/somatic

Chr17:7675085

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA16602995

rs_786202962

4 SubmittersRCV001244047 RCV004022202 RCV002348142 RCV005230299

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

SNV
Germline

Chr17:7675086

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA16602996

rs_967461896

4 SubmittersRCV000492644 RCV001060393 RCV001352918 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 1
Li-Fraumeni syndrome

Criteria Provided
Conflicting Classifications

CA16602997

rs_967461896

4 SubmittersRCV000785535 RCV001023834 RCV004022204 RCV003621529

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
Li-Fraumeni syndrome 1
TP53-related disorder
12 conditions

Criteria Provided
Conflicting Classifications

CA16602998

rs_1057519980

8 SubmittersRCV000530055 RCV000567103 RCV000785243 RCV004022205 RCV003401413 RCV005018716

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

SNV
Germline/somatic

Chr17:7675086

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA16602999

rs_967461896

5 SubmittersRCV000421755 RCV000785469 RCV001023833 RCV001044520 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

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

Criteria Provided
Multiple Submitters
No Conflicts

CA16603002

rs_1057519981

4 SubmittersRCV000492666 RCV000812726 RCV002289521

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

SNV
Germline/somatic

Chr17:7674251

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA16603003

rs_1057519981

4 SubmittersRCV001390630 RCV000785550 RCV002365460 RCV005256607

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

SNV
Germline/somatic

Chr17:7674238

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA501203

rs_121912655

4 SubmittersRCV000688366 RCV000785473 RCV004668951 RCV002379285

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
Hereditary cancer-predisposing syndrome
Neoplasm
Li-Fraumeni syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA16603006

rs_863224451

4 SubmittersRCV000785323 RCV004948279 RCV005230300 RCV001861482

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
Li-Fraumeni syndrome 1

Criteria Provided
Conflicting Classifications

CA16603008

rs_1057519983

3 SubmittersRCV001183954 RCV002521507 RCV004022208

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

SNV
Germline/somatic

Chr17:7673779

Pathogenic/Likely pathogenic

Li-Fraumeni syndrome
Li-Fraumeni syndrome 1
Neoplasm

Criteria Provided
Multiple Submitters
No Conflicts

CA16603009

rs_764146326

3 SubmittersRCV000792342 RCV004022209 RCV004668952

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

SNV
Germline/somatic

Chr17:7673779

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA001503

rs_764146326

5 SubmittersRCV000785452 RCV000824609 RCV002446642 RCV005230301

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

SNV
Germline/somatic

Chr17:7673777

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10590135

rs_1057519984

4 SubmittersRCV000633352 RCV000785286 RCV002446643 RCV005230302

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

SNV
Germline/somatic

Chr17:7673779

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA16603010

rs_764146326

4 SubmittersRCV001306199 RCV001292542 RCV004022210 RCV002446644

NM_000546.6(TP53):c.842A>C (p.Asp281Ala)

SNV
Germline

Chr17:7673778

Pathogenic/Likely pathogenic

Adrenocortical carcinoma, hereditary
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA16603011

rs_587781525

2 SubmittersRCV003463826 RCV005286077

NM_000546.6(TP53):c.857A>G (p.Glu286Gly)

SNV
Germline

Chr17:7673763

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA16603012

rs_1057519985

2 SubmittersRCV000556558 RCV005251127

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

SNV
Germline/somatic

Chr17:7673764

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Li-Fraumeni syndrome 1
Neoplasm

Criteria Provided
Conflicting Classifications

CA16603013

rs_786201059

3 SubmittersRCV001048274 RCV004022211 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

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

Criteria Provided
Multiple Submitters
No Conflicts

CA16603016

rs_1057519986

4 SubmittersRCV000481465 RCV000824076 RCV002289523 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

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA16603019

rs_1057519986

5 SubmittersRCV001805037 RCV003470375 RCV002508212 RCV002524696 RCV004022213

NM_000546.6(TP53):c.808T>G (p.Phe270Val)

SNV
Germline

Chr17:7673812

Pathogenic

Hereditary cancer-predisposing syndrome

Criteria Provided
Single Submitter

CA16603020

rs_1057519988

1 SubmittersRCV001027160

NM_000546.6(TP53):c.730G>T (p.Gly244Cys)

SNV
Germline/somatic

Chr17:7674233

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA16603021

rs_1057519989

5 SubmittersRCV000538079 RCV001567979 RCV001270273 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
Malignant tumor of urinary bladder
Gastric cancer
Adrenocortical carcinoma, hereditary
Neoplasm

Criteria Provided
Multiple Submitters
No Conflicts

CA16603022

rs_1057519989

10 SubmittersRCV000492366 RCV000633372 RCV001257520 RCV002289524 RCV003332172 RCV003168616 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

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

Criteria Provided
Multiple Submitters
No Conflicts

CA001743

rs_121912656

6 SubmittersRCV000558455 RCV001026313 RCV001548147 RCV003476008 RCV002289525 RCV004668955

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

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

Criteria Provided
Conflicting Classifications

CA16603027

rs_1057519991

9 SubmittersRCV000785555 RCV001023983 RCV001591055 RCV000529132 RCV003983035 RCV004022216

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

SNV
Germline

Chr17:7675075

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA16603028

rs_876660821

6 SubmittersRCV000815181 RCV001293868 RCV002264935 RCV002289527

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

SNV
Germline

Chr17:7675076

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA16603029

rs_1057519991

6 SubmittersRCV000705316 RCV002348143 RCV003476009 RCV004022217 RCV004721352

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

SNV
Germline

Chr17:7675077

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA16603030

rs_587780070

4 SubmittersRCV000695193 RCV000564826 RCV001575036 RCV004022218

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

SNV
Germline

Chr17:7675077

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA16603031

rs_587780070

5 SubmittersRCV003335320 RCV002348144 RCV001851020 RCV003470376 RCV005230303

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.577C>A (p.His193Asn)

SNV
Germline

Chr17:7674954

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_876658468

2 SubmittersRCV004949418 RCV005109943

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

SNV
Germline/somatic

Chr17:7674890

Pathogenic

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

Reviewed By Expert Panel

CA16040595

rs_1057519992

11 SubmittersRCV001584113 RCV000477234 RCV000492372 RCV005230304 RCV004022220 RCV005027481

NM_000546.6(TP53):c.641A>T (p.His214Leu)

SNV
Germline

Chr17:7674890

Likely pathogenic

Li-Fraumeni syndrome

Reviewed By Expert Panel

CA16603036

rs_1057519992

3 SubmittersRCV002298583

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

SNV
Germline/somatic

Chr17:7674948

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA16603037

rs_942158624

4 SubmittersRCV001270271 RCV001345722 RCV003329275 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
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1
Neoplasm

Criteria Provided
Conflicting Classifications

CA16603041

rs_1057519995

5 SubmittersRCV000785451 RCV001301950 RCV002392946 RCV004022222 RCV004668956

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

SNV
Germline/somatic

Chr17:7675216

Likely pathogenic

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

Reviewed By Expert Panel

CA16603044

rs_866775781

7 SubmittersRCV000709407 RCV000424592 RCV004022223 RCV004719814 RCV005230306

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
Condition: not provided
Hereditary cancer-predisposing syndrome
Neoplasm
12 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA16603045

rs_1057519996

10 SubmittersRCV000471183 RCV000785521 RCV004022224 RCV004797608 RCV005243222 RCV002356517 RCV004668957 RCV005018717

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

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Neoplasm

Criteria Provided
Conflicting Classifications

CA16603048

rs_1057519996

3 SubmittersRCV000546420 RCV004678696 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
Ovarian neoplasm
Li-Fraumeni syndrome 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA16603049

rs_1057519997

5 SubmittersRCV000480700 RCV000459042 RCV000785496 RCV004022227 RCV004791445

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

SNV
Germline

Chr17:7676037

Pathogenic

Li-Fraumeni syndrome
Li-Fraumeni syndrome 1

Reviewed By Expert Panel

CA16603051

rs_1057519997

3 SubmittersRCV001041362 RCV004022228

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

SNV
Germline/somatic

Chr17:7674950

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA16044097

rs_1057519998

6 SubmittersRCV000785551 RCV000535418 RCV000561306 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
Ovarian neoplasm
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Conflicting Classifications

CA16603052

rs_1057519998

4 SubmittersRCV000565549 RCV000785543 RCV001376885 RCV004022230

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

SNV
Germline/somatic

Chr17:7674253

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA001811

rs_765848205

4 SubmittersRCV002524697 RCV005230307 RCV002509381 RCV004022231

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

SNV
Germline

Chr17:7674247

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA16603054

rs_1057519999

6 SubmittersRCV000567507 RCV002289529 RCV001851021 RCV002510885

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

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

Criteria Provided
Multiple Submitters
No Conflicts

CA16603059

rs_17849781

7 SubmittersRCV000522600 RCV000633344 RCV000562528 RCV000785527 RCV004797610 RCV004022233

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

SNV
Germline/somatic

Chr17:7673788

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA16603060

rs_17849781

5 SubmittersRCV000785511 RCV000626445 RCV004022234 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
Ovarian neoplasm
Li-Fraumeni syndrome
Condition: not provided
Li-Fraumeni syndrome 1
12 conditions

Criteria Provided
Conflicting Classifications

CA16603062

rs_17849781

6 SubmittersRCV000567850 RCV000785477 RCV000688854 RCV001584114 RCV004022235 RCV005018718

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

SNV
Germline

Chr17:7673787

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA16603063

rs_876659802

5 SubmittersRCV001017582 RCV000633329 RCV002289531 RCV004567903

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

SNV
Germline/somatic

Chr17:7675089

Pathogenic

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

Reviewed By Expert Panel

CA16603066

rs_138729528

10 SubmittersRCV000459914 RCV000573315 RCV000785486 RCV004668959 RCV001584115 RCV002289532

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

4 SubmittersRCV002356518 RCV004022237 RCV002524699

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

SNV
Germline

Chr17:7674221

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA16603069

rs_121912651

4 SubmittersRCV000633396 RCV000626118 RCV001026425 RCV004022238

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

SNV
Germline/somatic

Chr17:7674217

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA16603070

rs_587782329

5 SubmittersRCV000782360 RCV000690948 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
Li-Fraumeni syndrome
Ovarian neoplasm
Condition: not provided
Li-Fraumeni syndrome 1
Neoplasm
12 conditions
Neuroendocrine pancreatic tumor

Criteria Provided
Multiple Submitters
No Conflicts

CA001530

rs_28934576

9 SubmittersRCV000568814 RCV000822080 RCV000785524 RCV001539823 RCV002289534 RCV004668960 RCV002502455 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
Condition: not provided

Criteria Provided
Conflicting Classifications

CA16603072

rs_121912660

4 SubmittersRCV000492483 RCV000423448 RCV000633356 RCV005411425

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

Criteria Provided
Multiple Submitters
No Conflicts

CA16603074

rs_730882008

7 SubmittersRCV000442220 RCV000709402 RCV002289536 RCV002502456 RCV000492764

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

SNV
Germline/somatic

Chr17:7674887

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ovarian neoplasm
Li-Fraumeni syndrome

Criteria Provided
Conflicting Classifications

CA16603075

rs_587782177

3 SubmittersRCV001025280 RCV000785347 RCV003509529

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

SNV
Germline/somatic

Chr17:7674886

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA16603076

rs_1057520001

6 SubmittersRCV000465501 RCV000785463 RCV000662560 RCV002289537 RCV004786685

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

SNV
Germline

Chr17:7674887

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA16603077

rs_587782177

5 SubmittersRCV000492171 RCV000816006 RCV003476011 RCV004022241 RCV005418106

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

SNV
Germline/somatic

Chr17:7674241

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA16603078

rs_28934573

6 SubmittersRCV000785454 RCV001053974 RCV001576591 RCV002289539 RCV002289538 RCV004668961

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

SNV
Germline

Chr17:7674242

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

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

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

Criteria Provided
Multiple Submitters
No Conflicts

CA16044089

rs_786201057

8 SubmittersRCV004668962 RCV000492090 RCV002289540 RCV004719815 RCV000524926

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

SNV
Germline/somatic

Chr17:7675095

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA16603082

rs_876660754

7 SubmittersRCV000694763 RCV000785539 RCV002289541 RCV001821147 RCV002289542 RCV004668963

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

SNV
Germline/somatic

Chr17:7675094

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA16603083

rs_1057519747

5 SubmittersRCV000574130 RCV000582350 RCV004022245 RCV002524700 RCV005230310

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

7 SubmittersRCV000785309 RCV001042741 RCV002365461 RCV003321589 RCV004022246

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

SNV
Germline

Chr17:7674884

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA16603085

rs_1057520004

2 SubmittersRCV001202958 RCV004678697

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

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

Criteria Provided
Conflicting Classifications

CA16603088

rs_1057520005

5 SubmittersRCV001255677 RCV001344689 RCV002429349 RCV004022248 RCV005230311

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

Criteria Provided
Multiple Submitters
No Conflicts

CA16603095

rs_1057520007

6 SubmittersRCV000704312 RCV002356520 RCV004022251 RCV004721353 RCV004745373

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

SNV
Germline

Chr17:7674918

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA16603098

rs_1057520008

5 SubmittersRCV001024933 RCV000662621 RCV001851022

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

SNV
Germline

Chr17:7674918

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA16603099

rs_1057520008

4 SubmittersRCV000819983 RCV000775886 RCV004022252

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

SNV
Germline

Chr17:7674918

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA16603100

rs_1057520008

4 SubmittersRCV000462351 RCV000663307 RCV003441853

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

SNV
Germline/somatic

Chr17:7674873

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA002135

rs_530941076

7 SubmittersRCV000785254 RCV000566866 RCV001215103 RCV003476013 RCV004022253

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

SNV
Germline/somatic

Chr17:7674873

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA16603101

rs_530941076

5 SubmittersRCV000570507 RCV001313857 RCV001575028 RCV004022254 RCV005230312

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/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA16603105

rs_864622237

3 SubmittersRCV000809457 RCV001025925 RCV005251128

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

SNV
Germline/somatic

Chr17:7674256

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA16603106

rs_730882026

8 SubmittersRCV001201781 RCV000785279 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.471C>A (p.Val157=)

SNV
Germline

Chr17:7675141

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA16607524

rs_1057522496

6 SubmittersRCV000436964 RCV000573040 RCV002289566 RCV001472156 RCV005355759

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

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

Criteria Provided
Conflicting Classifications

CA16607851

rs_1057522275

5 SubmittersRCV000492173 RCV000431317 RCV000529909 RCV003463830

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

SNV
Germline

Chr17:7674291

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA16607882

rs_878854073

6 SubmittersRCV000418491 RCV002289552 RCV000708630 RCV001034938

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

SNV
Germline

Chr17:7674850

Conflicting classifications of pathogenicity

not specified
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Conflicting Classifications

CA16607883

rs_1057521030

5 SubmittersRCV000425870 RCV001424406 RCV005620936

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

SNV
Germline

Chr17:7676606

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
12 conditions
Li-Fraumeni syndrome 1
Familial cancer of breast
Li-Fraumeni syndrome 1

Criteria Provided
Conflicting Classifications

CA004012

rs_375229869

6 SubmittersRCV000434247 RCV000583581 RCV002488960 RCV005365293 RCV002289573

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

SNV
Germline

Chr17:7669693

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA16608655

rs_1057521167

4 SubmittersRCV001805046 RCV004719077 RCV001861512

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

SNV
Germline/somatic

Chr17:7673740

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA16608665

rs_1057520607

4 SubmittersRCV000433836 RCV001527467 RCV004022313 RCV002374641

NM_000546.6(TP53):c.325T>G (p.Phe109Val)

SNV
Germline

Chr17:7676044

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA16608667

rs_1057523496

3 SubmittersRCV000434126 RCV004022449 RCV005090832

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

3 SubmittersRCV000471374 RCV001127284

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

SNV
Germline/somatic

Chr17:7673609

Pathogenic

Li-Fraumeni syndrome
Condition: not provided
Neoplasm

Criteria Provided
Single Submitter

CA16615686

rs_587781702

3 SubmittersRCV000458070 RCV003151060 RCV005230383

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

SNV
Germline

Chr17:7673841

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA16615687

rs_1060504160

5 SubmittersRCV000468122 RCV001181991 RCV005620942

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
Li-Fraumeni syndrome 1

Criteria Provided
Conflicting Classifications

CA16615692

rs_1060504161

3 SubmittersRCV000483671 RCV001421969 RCV005620943

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
Neoplasm
Adrenal cortex carcinoma

Criteria Provided
Multiple Submitters
No Conflicts

CA16615700

rs_866380588

7 SubmittersRCV000472712 RCV001024481 RCV001358339 RCV002289596 RCV004668979 RCV004000747

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

SNV
Germline

Chr17:7673839

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA16615702

rs_1060501207

3 SubmittersRCV000464087 RCV002411441 RCV005421799

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

4 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

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA16615709

rs_786202752

6 SubmittersRCV000492645 RCV000473602 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

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

Reviewed By Expert Panel

CA002845

rs_11540654

12 SubmittersRCV000473145 RCV000492590 RCV000785348 RCV002289602 RCV004999438 RCV004000748 RCV005230382

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

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

Criteria Provided
Conflicting Classifications

CA16615720

rs_1060501203

4 SubmittersRCV000564109 RCV000477098 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

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

Criteria Provided
Multiple Submitters
No Conflicts

CA16615732

rs_1060501195

3 SubmittersRCV000492606 RCV000475325 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

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA16615937

rs_1057519984

7 SubmittersRCV000470818 RCV000499361 RCV000785325 RCV000658764 RCV002446795 RCV005230381

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

SNV
Germline

Chr17:7673809

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA16615939

rs_1060501191

5 SubmittersRCV000457572 RCV000775714 RCV003315242 RCV001815331

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
12 conditions

Criteria Provided
Conflicting Classifications

CA16615964

rs_878854064

4 SubmittersRCV000475451 RCV001010274 RCV002289597 RCV005027507

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
Li-Fraumeni syndrome 1

Criteria Provided
Conflicting Classifications

CA16615992

rs_786202546

6 SubmittersRCV000462950 RCV000506600 RCV000575062 RCV005620944

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_000546.6(TP53):c.992A>G (p.Gln331Arg)

SNV
Germline

Chr17:7673536

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA16620611

rs_1064795056

4 SubmittersRCV001037256 RCV000479182 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
Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1
Neoplasm
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA001463

rs_748891343

9 SubmittersRCV000481706 RCV001214612 RCV000568299 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
Li-Fraumeni syndrome
Poly (ADP-Ribose) polymerase inhibitor response
Li-Fraumeni syndrome 1
Neoplasm

Criteria Provided
Multiple Submitters
No Conflicts

CA16620615

rs_112431538

7 SubmittersRCV000479542 RCV000492206 RCV000633365 RCV000626449 RCV002289628 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
Ovarian neoplasm
not specified
Li-Fraumeni syndrome 1
Squamous cell carcinoma of the head and neck
Li-Fraumeni syndrome

Criteria Provided
Conflicting Classifications

CA16620616

rs_1064793881

9 SubmittersRCV000484876 RCV000492354 RCV000785274 RCV000584418 RCV002289625 RCV000989709 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

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

Criteria Provided
Conflicting Classifications

CA16620630

rs_1064795691

4 SubmittersRCV000552464 RCV000481512 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 1
Li-Fraumeni syndrome
TP53-related disorder

Criteria Provided
Conflicting Classifications

CA16620631

rs_1064795860

8 SubmittersRCV000481578 RCV000561574 RCV002289645 RCV000795252 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
Adrenocortical carcinoma, hereditary
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA16620633

rs_1064795139

8 SubmittersRCV000484833 RCV000662907 RCV001052030 RCV004568185 RCV002289639

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

SNV
Germline/somatic

Chr17:7676210

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA16620640

rs_1064794618

8 SubmittersRCV000480240 RCV001012297 RCV001236368 RCV002289632 RCV005230944 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 1
Li-Fraumeni syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA003910

rs_201382018

7 SubmittersRCV000563270 RCV000663228 RCV000548671 RCV001704594

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
TP53-related disorder
Neoplasm

Criteria Provided
Multiple Submitters
No Conflicts

CA10590137

rs_11575996

10 SubmittersRCV000492456 RCV000521745 RCV000685844 RCV002289663 RCV004797613 RCV004669006

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

SNV
Germline/somatic

Chr17:7673794

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA397836931

rs_1131691029

4 SubmittersRCV000492584 RCV000785453 RCV000705570 RCV004568619

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

SNV
Germline/somatic

Chr17:7673820

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA397837115

rs_587780075

3 SubmittersRCV003326137 RCV000492273 RCV000691629

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

SNV
Germline/somatic

Chr17:7674226

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA397838998

rs_587780074

4 SubmittersRCV000704600 RCV000785245 RCV000492075 RCV002289671

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

SNV
Germline

Chr17:7674888

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA397840019

rs_886039484

3 SubmittersRCV002523445 RCV000492567 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/somatic

Chr17:7675098

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA397841576

rs_1131691043

5 SubmittersRCV004023284 RCV000492688 RCV002527066 RCV005230967

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

SNV
Germline

Chr17:7675109

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA287488569

rs_867114783

3 SubmittersRCV000702915 RCV000492442 RCV004023278

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

SNV
Germline

Chr17:7675142

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA397842041

rs_1131691023

5 SubmittersRCV002274041 RCV000505579 RCV002289672 RCV000492393 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
Li-Fraumeni syndrome 1
Neoplasm
Condition: not provided
Ovarian neoplasm

Criteria Provided
Multiple Submitters
No Conflicts

CA397842363

rs_1131691026

7 SubmittersRCV000492181 RCV000633358 RCV002289674 RCV005230965 RCV005620366 RCV001527473

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

SNV
Germline

Chr17:7675220

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA397842926

rs_1131691037

4 SubmittersRCV000821569 RCV000492742 RCV002289677

NM_000546.6(TP53):c.389T>C (p.Leu130Pro)

SNV
Germline

Chr17:7675223

Pathogenic

Hereditary cancer-predisposing syndrome
12 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA397842949

rs_1131691013

2 SubmittersRCV000492142 RCV002475970

NM_000546.6(TP53):c.376T>A (p.Tyr126Asn)

SNV
Germline

Chr17:7675236

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA397843963

rs_886039483

3 SubmittersRCV000492304 RCV002289664 RCV000801059

NM_000546.6(TP53):c.313G>A (p.Gly105Ser)

SNV
Germline/somatic

Chr17:7676056

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA397844735

rs_1060501195

4 SubmittersRCV001379190 RCV000492331 RCV004003474 RCV002289669

NM_000546.6(TP53):c.96+1G>C

SNV
Germline

Chr17:7676381

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA397848258

rs_1131691003

4 SubmittersRCV003485592 RCV000492543 RCV002523444

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

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

Criteria Provided
Conflicting Classifications

CA397838899

rs_730882027

4 SubmittersRCV001755753 RCV000506798 RCV002395222 RCV001379962

NM_000546.6(TP53):c.617T>C (p.Leu206Ser)

SNV
Germline

Chr17:7674914

Conflicting classifications of pathogenicity

not specified
Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA397840264

rs_1555525804

3 SubmittersRCV000507226 RCV001049540 RCV000566251

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_000546.6(TP53):c.478A>G (p.Met160Val)

SNV
Germline

Chr17:7675134

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA397841976

rs_377274728

6 SubmittersRCV000570720 RCV001051011 RCV004568658 RCV005356043 RCV000513585

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

Criteria Provided
Conflicting Classifications

CA397839073

rs_1057519982

5 SubmittersRCV000523905 RCV002376961 RCV001857954 RCV004023543

NM_000546.6(TP53):c.596G>T (p.Gly199Val)

SNV
Germline

Chr17:7674935

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA397840476

rs_1555525857

1 SubmittersRCV000522967

NM_000546.6(TP53):c.128T>A (p.Leu43Ter)

SNV
Germline

Chr17:7676241

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA397846898

rs_1555526777

1 SubmittersRCV000521967

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

6 SubmittersRCV000546011 RCV000563243 RCV001544620

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

4 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
Condition: not provided
Hereditary cancer-predisposing syndrome
Adrenocortical carcinoma, hereditary
Neoplasm
Li-Fraumeni syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA397842017

rs_1555526131

6 SubmittersRCV000527533 RCV001764539 RCV002341276 RCV003476227 RCV004669032 RCV004023788

NM_000546.6(TP53):c.377A>G (p.Tyr126Cys)

SNV
Germline/somatic

Chr17:7675235

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA397843956

rs_1555526335

8 SubmittersRCV000547041 RCV001021115 RCV000785493 RCV002289730 RCV005051792 RCV005231032

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

Criteria Provided
Multiple Submitters
No Conflicts

CA397839547

rs_1555525585

7 SubmittersRCV000553068 RCV000785307 RCV000786824 RCV002289738 RCV002289737

NM_000546.6(TP53):c.530C>G (p.Pro177Arg)

SNV
Germline

Chr17:7675082

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA002428

rs_751477326

6 SubmittersRCV000540639 RCV000582953 RCV000565979 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

5 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
Familial cancer of breast
Li-Fraumeni syndrome 1

Criteria Provided
Conflicting Classifications

CA002450

rs_749309577

5 SubmittersRCV000556128 RCV000578979 RCV001023655 RCV005357554

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

3 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.917G>A (p.Arg306Gln)

SNV
Germline

Chr17:7673703

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA287486566

rs_1048095040

11 SubmittersRCV000527123 RCV000561902 RCV000986056 RCV000989706 RCV000664300 RCV003330753 RCV004568752 RCV005357556

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

Criteria Provided
Multiple Submitters
No Conflicts

CA397837142

rs_1057519990

7 SubmittersRCV000528667 RCV000785497 RCV001027016 RCV002289744 RCV004568751 RCV004772959 RCV004669033

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.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

4 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

5 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

5 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.825T>G (p.Cys275Trp)

SNV
Germline/somatic

Chr17:7673795

Likely pathogenic

Hereditary cancer-predisposing syndrome
Ovarian neoplasm

Criteria Provided
Single Submitter

CA397836936

rs_1555525279

2 SubmittersRCV000561423 RCV000785448

NM_000546.6(TP53):c.376-4A>T

SNV
Germline

Chr17:7675240

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA397843997

rs_1221388024

5 SubmittersRCV000564076 RCV001451701 RCV005620975

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.1048C>T (p.Leu350Phe)

SNV
Germline

Chr17:7670661

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome

Criteria Provided
Conflicting Classifications

CA397832343

rs_768046010

2 SubmittersRCV000562474 RCV005056206

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/somatic

Chr17:7674225

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Hereditary breast ovarian cancer syndrome
Neoplasm

Criteria Provided
Multiple Submitters
No Conflicts

CA287487993

rs_1019340046

4 SubmittersRCV000561491 RCV000633390 RCV003483672 RCV005231087

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
Familial cancer of breast
Li-Fraumeni syndrome 1

Criteria Provided
Conflicting Classifications

CA397845138

rs_1210700121

7 SubmittersRCV000566433 RCV000811514 RCV002289782 RCV005357651

NM_000546.6(TP53):c.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
Ovarian neoplasm
Condition: not provided
Li-Fraumeni syndrome
Lip and oral cavity carcinoma
Li-Fraumeni syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA287488727

rs_868137297

10 SubmittersRCV000570638 RCV000785531 RCV000786836 RCV000800144 RCV001255670 RCV002289803

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.973G>A (p.Gly325Arg)

SNV
Germline

Chr17:7673555

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified

Criteria Provided
Conflicting Classifications

CA397835820

rs_863224500

2 SubmittersRCV000568856 RCV002509444

NM_000546.6(TP53):c.920-3T>C

SNV
Germline

Chr17:7673611

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA658656531

rs_1367689213

5 SubmittersRCV000565754 RCV002289841 RCV005601013

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_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
Condition: not provided

Criteria Provided
Conflicting Classifications

CA397845525

rs_1555526664

6 SubmittersRCV000573848 RCV002528018 RCV005241380

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

Criteria Provided
Conflicting Classifications

CA287486535

rs_911934766

6 SubmittersRCV000584286 RCV001683597 RCV002289877 RCV002061962 RCV003492112

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+313G>A

SNV
Germline

Chr17:7673222

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA000967

rs_372821099

4 SubmittersRCV000582621 RCV003952931 RCV003316774

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 1
Condition: not provided
Li-Fraumeni syndrome

Criteria Provided
Conflicting Classifications

CA497925734

rs_1555526278

5 SubmittersRCV000584017 RCV002289865 RCV005000354 RCV001448559

NM_000546.6(TP53):c.673-3T>C

SNV
Germline

Chr17:7674293

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA624726688

rs_1214646363

5 SubmittersRCV000605146 RCV000581448 RCV001860105 RCV005620993

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.993+309C>T

SNV
Germline

Chr17:7673226

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified

Criteria Provided
Conflicting Classifications

CA000994

rs_758194998

2 SubmittersRCV000582476 RCV000608773

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_000546.6(TP53):c.831T>A (p.Cys277Ter)

SNV
Germline/somatic

Chr17:7673789

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA397836898

rs_1057523347

5 SubmittersRCV000582104 RCV000793572 RCV002431737 RCV004024646 RCV005231135

NM_000546.6(TP53):c.560-1G>C

SNV
Germline/somatic

Chr17:7674972

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA397840948

rs_1202793339

6 SubmittersRCV000584518 RCV000785458 RCV002350408 RCV001867897 RCV001257521

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.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.865C>G (p.Leu289Val)

SNV
Germline

Chr17:7673755

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA397836620

rs_1555525154

3 SubmittersRCV000588420 RCV005056249 RCV004948459

NM_000546.6(TP53):c.993+4C>T

SNV
Germline

Chr17:7673531

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA658798695

rs_1555524942

3 SubmittersRCV001186308 RCV001697982

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

6 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

10 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
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA397842028

rs_587782144

7 SubmittersRCV000633348 RCV001091169 RCV002289923 RCV002289922

NM_000546.6(TP53):c.375+2T>A

SNV
Germline/somatic

Chr17:7675992

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA397844133

rs_1555526469

4 SubmittersRCV000633362 RCV001021046 RCV002289925 RCV005231204

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.75-8T>C

SNV
Germline

Chr17:7676411

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA658798709

rs_1555526938

3 SubmittersRCV001766347 RCV005621008 RCV000633410

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

5 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
Hereditary cancer-predisposing syndrome
Neoplasm
Li-Fraumeni syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA397835645

rs_11575997

8 SubmittersRCV000633368 RCV000785467 RCV000786816 RCV002289929 RCV005231205 RCV002289928

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
Condition: not provided

Criteria Provided
Conflicting Classifications

CA397837741

rs_587781433

5 SubmittersRCV000633389 RCV001026685 RCV002289933 RCV005411511

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
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Conflicting Classifications

CA397839930

rs_1555525743

4 SubmittersRCV000633350 RCV001175697 RCV002289924

NM_000546.6(TP53):c.35C>T (p.Pro12Leu)

SNV
Germline

Chr17:7676560

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA397849144

rs_1482497533

5 SubmittersRCV000633363 RCV000772527 RCV002289926

NM_000546.6(TP53):c.782+3C>T

SNV
Germline

Chr17:7674178

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA891844045

rs_1555525425

5 SubmittersRCV000685199 RCV002289959 RCV002289958 RCV000840660

NM_000546.6(TP53):c.534C>A (p.His178Gln)

SNV
Germline

Chr17:7675078

Pathogenic/Likely pathogenic

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA397841364

rs_1555526001

3 SubmittersRCV000698003 RCV001023959 RCV002307599

NM_000546.6(TP53):c.110C>T (p.Ser37Phe)

SNV
Germline

Chr17:7676259

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
12 conditions

Criteria Provided
Conflicting Classifications

CA397847974

rs_1567557177

4 SubmittersRCV000688189 RCV004026290 RCV005021056

NM_000546.6(TP53):c.242C>T (p.Thr81Ile)

SNV
Germline

Chr17:7676127

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA397845528

rs_1567556386

3 SubmittersRCV000707346 RCV002458325

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
Li-Fraumeni syndrome 1
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA397845904

rs_1567556618

5 SubmittersRCV000698086 RCV001183319 RCV002289975 RCV005357934

NM_000546.6(TP53):c.151G>T (p.Glu51Ter)

SNV
Germline/somatic

Chr17:7676218

Pathogenic

Li-Fraumeni syndrome
Neoplasm

Criteria Provided
Single Submitter

CA397846566

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
Familial cancer of breast
Li-Fraumeni syndrome 1

Criteria Provided
Conflicting Classifications

CA397847899

rs_1353016807

5 SubmittersRCV000690309 RCV002225719 RCV002289967 RCV002289968 RCV005357920

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

CA397835971

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

CA397844771

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

CA397844806

rs_1567555968

4 SubmittersRCV000706015 RCV000771730 RCV002289983

NM_000546.6(TP53):c.211C>T (p.Pro71Ser)

SNV
Germline

Chr17:7676158

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA397845838

rs_1567556576

6 SubmittersRCV000693744 RCV000771703 RCV001030739 RCV002289972

NM_000546.6(TP53):c.211C>G (p.Pro71Ala)

SNV
Germline

Chr17:7676158

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA397845842

rs_1567556576

6 SubmittersRCV000700185 RCV002289977 RCV001805814

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

CA397830723

rs_1567540504

6 SubmittersRCV000700219 RCV000771476 RCV002289978

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

SNV
Germline

Chr17:7673806

Pathogenic

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA397837009

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

CA397839434

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
Li-Fraumeni syndrome 1
Adrenal cortex carcinoma

Criteria Provided
Multiple Submitters
No Conflicts

CA397843943

rs_1567554500

6 SubmittersRCV000702157 RCV002343542 RCV003165877 RCV003472237 RCV004026584 RCV003999725

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
Li-Fraumeni syndrome 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA397839141

rs_1567549584

5 SubmittersRCV000709404 RCV000989712 RCV002289986 RCV002289987

NM_000546.6(TP53):c.184G>T (p.Glu62Ter)

SNV
Germline

Chr17:7676185

Pathogenic

Hereditary cancer-predisposing syndrome

Criteria Provided
Single Submitter

CA397846175

rs_1567556752

1 SubmittersRCV000754578

NM_000546.6(TP53):c.1147C>T (p.Leu383Phe)

SNV
Germline

Chr17:7669644

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA287485469

rs_150842067

3 SubmittersRCV000759368 RCV001017468

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

CA497716204

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

CA397841918

rs_1567553246

2 SubmittersRCV000759375 RCV003509597

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

SNV
Germline

Chr17:7674853

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA002094

rs_766856111

6 SubmittersRCV000759378 RCV001798972 RCV002290005 RCV002290004 RCV005208612

NM_000546.6(TP53):c.1061A>G (p.Gln354Arg)

SNV
Germline

Chr17:7670648

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA000810

rs_752142489

5 SubmittersRCV000774782 RCV001856096 RCV002290022

NM_000546.6(TP53):c.873G>C (p.Lys291Asn)

SNV
Germline

Chr17:7673747

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA287486593

rs_372613518

4 SubmittersRCV000774787 RCV000820689 RCV002290023

NM_000546.6(TP53):c.868C>G (p.Arg290Gly)

SNV
Germline

Chr17:7673752

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome

Criteria Provided
Conflicting Classifications

CA397836598

rs_770374782

3 SubmittersRCV000773647 RCV002534085

NM_000546.6(TP53):c.625A>G (p.Arg209Gly)

SNV
Germline

Chr17:7674906

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA397840184

rs_1429743956

6 SubmittersRCV000771676 RCV002290014 RCV001237388

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

CA397844701

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
Li-Fraumeni syndrome 1

Criteria Provided
Conflicting Classifications

CA397848051

rs_1322947350

4 SubmittersRCV000772948 RCV002536641 RCV002290017

NM_000546.6(TP53):c.560-12G>A

SNV
Germline

Chr17:7674983

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome

Criteria Provided
Conflicting Classifications

CA913187696

rs_1567552329

2 SubmittersRCV000776663 RCV005092290

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

SNV
Germline/somatic

Chr17:7673700

Pathogenic

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

Reviewed By Expert Panel

CA397836247

rs_1131691039

10 SubmittersRCV000782136 RCV000991150 RCV001578272 RCV003307417 RCV003992389 RCV004797621

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

SNV
Germline

Chr17:7673699

Likely pathogenic

Hereditary breast ovarian cancer syndrome
Condition: not provided

Criteria Provided
Single Submitter

CA397836240

rs_1131691016

2 SubmittersRCV000782138 RCV003884726

NM_000546.6(TP53):c.1045G>T (p.Glu349Ter)

SNV
Germline/somatic

Chr17:7670664

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA397832377

rs_1567541975

4 SubmittersRCV000785303 RCV004678823 RCV003117574 RCV001269697

NM_000546.6(TP53):c.1036G>T (p.Glu346Ter)

SNV
Germline/somatic

Chr17:7670673

Pathogenic

Ovarian neoplasm
Li-Fraumeni syndrome

Criteria Provided
Single Submitter

CA397832461

rs_1567542019

2 SubmittersRCV000785313 RCV001235302

NM_000546.6(TP53):c.856G>T (p.Glu286Ter)

SNV
Germline/somatic

Chr17:7673764

Pathogenic

Ovarian neoplasm
Neoplasm
Li-Fraumeni syndrome

Criteria Provided
Single Submitter

CA397836703

rs_786201059

3 SubmittersRCV000785476 RCV004669110 RCV001380072

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

CA397836838

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
Hereditary cancer-predisposing syndrome
12 conditions
Li-Fraumeni syndrome 1
TP53-related disorder
Neoplasm
Li-Fraumeni syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA397836977

rs_121913343

9 SubmittersRCV000785275 RCV001027249 RCV002487616 RCV002290030 RCV004797622 RCV005231327 RCV000814073

NM_000546.6(TP53):c.808T>C (p.Phe270Leu)

SNV
Germline/somatic

Chr17:7673812

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ovarian neoplasm
Breast and/or ovarian cancer
Adrenocortical carcinoma, hereditary
Li-Fraumeni syndrome 1
Li-Fraumeni syndrome

Criteria Provided
Conflicting Classifications

CA397837052

rs_1057519988

6 SubmittersRCV002422673 RCV000785520 RCV003492171 RCV004569494 RCV004027353 RCV001321223

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

SNV
Germline/somatic

Chr17:7674252

Pathogenic/Likely pathogenic

Ovarian neoplasm
Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Malignant tumor of urinary bladder
Adrenocortical carcinoma, hereditary

Criteria Provided
Multiple Submitters
No Conflicts

CA287488024

rs_587782664

5 SubmittersRCV000785508 RCV003509608 RCV002370058 RCV003332249 RCV003472321

NM_000546.6(TP53):c.695T>G (p.Ile232Ser)

SNV
Germline/somatic

Chr17:7674268

Pathogenic

Ovarian neoplasm
Hereditary cancer-predisposing syndrome

Criteria Provided
Single Submitter

CA397839358

rs_587781589

2 SubmittersRCV000785478 RCV002360902

NM_000546.6(TP53):c.661G>T (p.Glu221Ter)

SNV
Germline/somatic

Chr17:7674870

Pathogenic

Ovarian neoplasm
Li-Fraumeni syndrome 1
Li-Fraumeni syndrome
Adrenal cortex carcinoma

Criteria Provided
Multiple Submitters
No Conflicts

CA397839876

rs_786201592

4 SubmittersRCV000785468 RCV004027347 RCV000794857 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
Li-Fraumeni syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA397839886

rs_1567551150

4 SubmittersRCV000785516 RCV004027351 RCV004949898 RCV005092344

NM_000546.6(TP53):c.595G>T (p.Gly199Ter)

SNV
Somatic

Chr17:7674936

Pathogenic

Ovarian neoplasm

No Assertion Criteria Provided

CA397840480

rs_1567551821

1 SubmittersRCV000785258

NM_000546.6(TP53):c.592G>T (p.Glu198Ter)

SNV
Germline/somatic

Chr17:7674939

Pathogenic

Ovarian neoplasm
Li-Fraumeni syndrome

Criteria Provided
Single Submitter

CA397840529

rs_1567551854

2 SubmittersRCV000785326 RCV002535726

NM_000546.6(TP53):c.548C>G (p.Ser183Ter)

SNV
Germline/somatic

Chr17:7675064

Pathogenic

Li-Fraumeni syndrome
Ovarian neoplasm
Li-Fraumeni syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA397841210

rs_1555525970

3 SubmittersRCV001382449 RCV000785319 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

CA397841300

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

CA397841623

rs_587781845

2 SubmittersRCV000785509 RCV000792928

NM_000546.6(TP53):c.497C>G (p.Ser166Ter)

SNV
Germline/somatic

Chr17:7675115

Pathogenic

Ovarian neoplasm
Familial cancer of breast
Li-Fraumeni syndrome 1

Criteria Provided
Single Submitter

CA397841830

rs_1555526101

2 SubmittersRCV000785317 RCV005367551

NM_000546.6(TP53):c.467G>C (p.Arg156Pro)

SNV
Germline/somatic

Chr17:7675145

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA397842068

rs_371524413

4 SubmittersRCV000785506 RCV002536879 RCV001022886 RCV004777866

NM_000546.6(TP53):c.437G>A (p.Trp146Ter)

SNV
Germline/somatic

Chr17:7675175

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA397842378

rs_1206165503

8 SubmittersRCV000785547 RCV002290032 RCV004001542 RCV001055632 RCV001022390 RCV005241401

NM_000546.6(TP53):c.430C>T (p.Gln144Ter)

SNV
Germline/somatic

Chr17:7675182

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA002599

rs_757274881

5 SubmittersRCV002332573 RCV000785285 RCV004669108 RCV001388107 RCV003485642

NM_000546.6(TP53):c.415A>T (p.Lys139Ter)

SNV
Somatic

Chr17:7675197

Pathogenic

Ovarian neoplasm

No Assertion Criteria Provided

CA397842678

rs_1212996409

1 SubmittersRCV000785252

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

SNV
Germline/somatic

Chr17:7675216

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA287488695

rs_866775781

4 SubmittersRCV000785513 RCV000795096 RCV004027350 RCV003238212

NM_000546.6(TP53):c.341T>A (p.Leu114Ter)

SNV
Somatic

Chr17:7676028

Pathogenic

Ovarian neoplasm

No Assertion Criteria Provided

CA397844474

rs_781724995

1 SubmittersRCV000785466

NM_000546.6(TP53):c.338T>G (p.Phe113Cys)

SNV
Germline/somatic

Chr17:7676031

Pathogenic

Li-Fraumeni syndrome
Ovarian neoplasm

Criteria Provided
Single Submitter

CA397844502

rs_1567555667

2 SubmittersRCV001318208 RCV000785288

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

CA397844600

rs_1064796722

2 SubmittersRCV000785545 RCV004027354

NM_000546.6(TP53):c.314G>T (p.Gly105Val)

SNV
Germline/somatic

Chr17:7676055

Conflicting classifications of pathogenicity

Ovarian neoplasm
Lung adenocarcinoma
Li-Fraumeni syndrome

Criteria Provided
Conflicting Classifications

CA501187

rs_587781504

3 SubmittersRCV000785342 RCV003128724 RCV005092342

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 1
Li-Fraumeni syndrome
Malignant tumor of urinary bladder

Criteria Provided
Multiple Submitters
No Conflicts

CA397844879

rs_1567555994

7 SubmittersRCV000785339 RCV002256497 RCV004027342 RCV002535727 RCV003332248

NM_000546.6(TP53):c.193A>T (p.Arg65Ter)

SNV
Somatic

Chr17:7676176

Pathogenic

Ovarian neoplasm

No Assertion Criteria Provided

CA397846088

rs_1555526721

1 SubmittersRCV000785253

NM_000546.6(TP53):c.560-1G>A

SNV
Germline/somatic

Chr17:7674972

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA397840949

rs_1202793339

7 SubmittersRCV000786832 RCV000785507 RCV001024314 RCV002535728 RCV004027349 RCV003472320 RCV004669111

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

CA397844139

rs_1567555445

8 SubmittersRCV000785320 RCV000786839 RCV001021044 RCV001385498 RCV002290031

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

CA397844143

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

CA397830333

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

CA000676

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
Li-Fraumeni syndrome 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA397830875

rs_1289241865

3 SubmittersRCV000813556 RCV002290459 RCV001009899

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

CA397832378

rs_1567541975

2 SubmittersRCV000814404 RCV004028816

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

CA397832455

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

CA287486504

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

CA397836124

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

CA397836165

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
Hereditary cancer-predisposing syndrome
Lung sarcomatoid carcinoma

Criteria Provided
Conflicting Classifications

CA397837758

rs_1330865474

4 SubmittersRCV000816469 RCV004789221 RCV003322618

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

CA001776

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

CA397842114

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

CA397843908

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

CA287488988

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

CA397844665

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

CA397845372

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

CA397846833

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

CA397847078

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

CA397848069

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
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Conflicting Classifications

CA397849154

rs_1482497533

5 SubmittersRCV000821845 RCV002259033 RCV002290470

NM_000546.6(TP53):c.22C>A (p.Pro8Thr)

SNV
Germline

Chr17:7676573

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA397849313

rs_1597376589

4 SubmittersRCV001015108 RCV000822860 RCV001257498

NM_000546.6(TP53):c.993+5T>G

SNV
Germline

Chr17:7673530

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA915949513

rs_1310956961

5 SubmittersRCV001019914 RCV000989704 RCV000818422 RCV002290464

NM_000546.6(TP53):c.375+1G>C

SNV
Germline/somatic

Chr17:7675993

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA397844135

rs_1567555445

4 SubmittersRCV000822481 RCV002256548 RCV002290471 RCV004669145

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

CA397848098

rs_1597375294

3 SubmittersRCV000812930 RCV003141828

NM_000546.6(TP53):c.97-11C>G

SNV
Germline

Chr17:7676283

Pathogenic/Likely pathogenic

Adrenocortical carcinoma, hereditary
Li-Fraumeni syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA656739915

rs_769697802

3 SubmittersRCV003472330 RCV000791519

NM_000546.6(TP53):c.783-10T>C

SNV
Germline

Chr17:7673847

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA287486659

rs_377590379

5 SubmittersRCV000923204 RCV001188668 RCV005621032

NM_000546.6(TP53):c.428T>C (p.Val143Ala)

SNV
Germline

Chr17:7675184

Pathogenic

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

Reviewed By Expert Panel

CA397842518

rs_1555526241

4 SubmittersRCV000991143 RCV004030120 RCV005286262

NM_000546.6(TP53):c.1177G>C (p.Asp393His)

SNV
Germline

Chr17:7669614

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA397829956

rs_1192921623

4 SubmittersRCV001010148 RCV002290527 RCV001862761

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

CA397830255

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

CA397830619

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 1
Li-Fraumeni syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA397832675

rs_1237829645

4 SubmittersRCV001017010 RCV002290533 RCV001225635 RCV001284720

NM_000546.6(TP53):c.946C>T (p.Pro316Ser)

SNV
Germline

Chr17:7673582

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA397835996

rs_772773208

5 SubmittersRCV001041188 RCV001019376 RCV002290539

NM_000546.6(TP53):c.913A>T (p.Lys305Ter)

SNV
Germline

Chr17:7673707

Pathogenic

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Gastric cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA397836281

rs_1597360340

3 SubmittersRCV001018912 RCV003509646 RCV003160179

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

CA397836616

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

CA397838863

rs_1597364185

2 SubmittersRCV001026581 RCV002551972

NM_000546.6(TP53):c.718A>C (p.Ser240Arg)

SNV
Germline

Chr17:7674245

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified

Criteria Provided
Conflicting Classifications

CA397839143

rs_1567549584

2 SubmittersRCV001026129 RCV004702585

NM_000546.6(TP53):c.579T>A (p.His193Gln)

SNV
Germline

Chr17:7674952

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome

Criteria Provided
Conflicting Classifications

CA397840669

rs_1597368777

2 SubmittersRCV001024540 RCV005093247

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

CA397841255

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 1
Li-Fraumeni syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA397842190

rs_587782705

3 SubmittersRCV001022693 RCV002290546 RCV001383776

NM_000546.6(TP53):c.389T>A (p.Leu130His)

SNV
Germline

Chr17:7675223

Pathogenic

Hereditary cancer-predisposing syndrome

Criteria Provided
Single Submitter

CA397842952

rs_1131691013

1 SubmittersRCV001021383

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

CA397842991

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

CA397843929

rs_1597371694

4 SubmittersRCV001021179 RCV001038263 RCV002290541

NM_000546.6(TP53):c.328C>G (p.Arg110Gly)

SNV
Germline

Chr17:7676041

Likely pathogenic

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome

Reviewed By Expert Panel

CA397844579

rs_587781371

2 SubmittersRCV001019706 RCV005606750

NM_000546.6(TP53):c.309C>G (p.Tyr103Ter)

SNV
Germline

Chr17:7676060

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA397844777

rs_1597373901

4 SubmittersRCV001044605 RCV001018609 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
Li-Fraumeni syndrome 1

Criteria Provided
Conflicting Classifications

CA497925908

rs_878854069

4 SubmittersRCV001018247 RCV001860899 RCV003478631 RCV005621067

NM_000546.6(TP53):c.265C>A (p.Pro89Thr)

SNV
Germline

Chr17:7676104

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA397845257

rs_1597374210

2 SubmittersRCV001016237

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

CA397846091

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
Li-Fraumeni syndrome 1
Adrenocortical carcinoma, hereditary

Criteria Provided
Conflicting Classifications

CA397846186

rs_1597374797

4 SubmittersRCV001013317 RCV001202193 RCV002290529 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

CA397846216

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

CA397846755

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
Familial cancer of breast
Li-Fraumeni syndrome 1

Criteria Provided
Conflicting Classifications

CA003257

rs_587781866

5 SubmittersRCV001009836 RCV001860613 RCV002290526 RCV005367666

NM_000546.6(TP53):c.29T>G (p.Val10Gly)

SNV
Germline

Chr17:7676566

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA397849194

rs_1418778734

4 SubmittersRCV001017901 RCV001233678 RCV002290536

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

CA397830719

rs_1342613419

3 SubmittersRCV001041270 RCV003584803

NM_000546.6(TP53):c.1090G>T (p.Ala364Ser)

SNV
Germline

Chr17:7670619

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA397831837

rs_2072906212

3 SubmittersRCV001052811 RCV002445283

NM_000546.6(TP53):c.1048C>G (p.Leu350Val)

SNV
Germline

Chr17:7670661

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA000823

rs_768046010

5 SubmittersRCV002402425 RCV001059236 RCV003462579

NM_000546.6(TP53):c.961A>T (p.Lys321Ter)

SNV
Germline

Chr17:7673567

Pathogenic

Li-Fraumeni syndrome

Criteria Provided
Single Submitter

CA397835889

rs_2073154382

1 SubmittersRCV001044813

NM_000546.6(TP53):c.761T>A (p.Ile254Asn)

SNV
Germline

Chr17:7674202

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA397837760

rs_1330865474

3 SubmittersRCV001061736 RCV004950217 RCV004030433

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

CA397838857

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

CA397839352

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

CA397839531

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

CA397840290

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
not specified

Criteria Provided
Conflicting Classifications

CA002385

rs_776167460

4 SubmittersRCV001042375 RCV002348357 RCV005232078

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

CA397841557

rs_1131691021

4 SubmittersRCV001037957 RCV002337102 RCV003396634 RCV004031050

NM_000546.6(TP53):c.472C>G (p.Arg158Gly)

SNV
Germline

Chr17:7675140

Pathogenic

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA397842035

rs_587780068

2 SubmittersRCV001061572 RCV005503004

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

CA002608

rs_779196500

2 SubmittersRCV001071731 RCV004789397

NM_000546.6(TP53):c.215C>T (p.Pro72Leu)

SNV
Germline

Chr17:7676154

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome

Criteria Provided
Conflicting Classifications

CA397845758

rs_1042522

2 SubmittersRCV004950256 RCV001071888

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

CA397846178

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

CA397847012

rs_2073486528

2 SubmittersRCV001070511 RCV004678951

NM_000546.6(TP53):c.47A>G (p.Gln16Arg)

SNV
Germline

Chr17:7676548

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA397848986

rs_2073520057

3 SubmittersRCV001035873 RCV003467707 RCV005286268

NM_000546.6(TP53):c.7G>A (p.Glu3Lys)

SNV
Germline

Chr17:7676588

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA397849502

rs_2073524362

5 SubmittersRCV001064070 RCV001525558 RCV002290580

NM_000546.6(TP53):c.402T>A (p.Phe134Leu)

SNV
Germline

Chr17:7675210

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA397842790

rs_1555526278

4 SubmittersRCV001091170 RCV002375011 RCV001862690 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

CA287485153

rs_1044102603

2 SubmittersRCV001123114 RCV002511047

NM_000546.6(TP53):c.470T>G (p.Val157Gly)

SNV
Germline

Chr17:7675142

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA397842039

rs_1131691023

3 SubmittersRCV001170827 RCV004032925 RCV004032926

NM_000546.6(TP53):c.991C>T (p.Gln331Ter)

SNV
Germline/somatic

Chr17:7673537

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA397835674

rs_1597359130

7 SubmittersRCV001183200 RCV004720079 RCV003509657 RCV004671235 RCV003332297 RCV004033087

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
Neoplasm
Li-Fraumeni syndrome 1

Criteria Provided
Conflicting Classifications

CA397839286

rs_786204145

6 SubmittersRCV001177820 RCV001875860 RCV004671234 RCV004033013

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

CA397839459

rs_2073267220

5 SubmittersRCV001189231 RCV001862990 RCV002290625

NM_000546.6(TP53):c.534C>G (p.His178Gln)

SNV
Germline

Chr17:7675078

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA397841360

rs_1555526001

2 SubmittersRCV002348728 RCV001218247

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

CA397841944

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

CA397844357

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

CA397844763

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

CA397846192

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

CA397846289

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

CA397835735

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

CA397841916

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
Hereditary cancer-predisposing syndrome
Neoplasm
Li-Fraumeni syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA397843917

rs_1597371694

4 SubmittersRCV001202791 RCV002365911 RCV004671246 RCV004033549

NM_000546.6(TP53):c.260C>T (p.Pro87Leu)

SNV
Germline

Chr17:7676109

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA397845331

rs_2073467677

2 SubmittersRCV001211923 RCV004789477

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

CA397848062

rs_786201968

4 SubmittersRCV001204709 RCV002436787 RCV004584862

NM_000546.6(TP53):c.96+2T>A

SNV
Germline

Chr17:7676380

Pathogenic

Li-Fraumeni syndrome

Criteria Provided
Single Submitter

CA397848249

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

CA397832671

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

CA397837139

rs_1057519990

2 SubmittersRCV001227077 RCV003129744

NM_000546.6(TP53):c.794T>A (p.Leu265Gln)

SNV
Germline

Chr17:7673826

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA397837169

rs_879253942

4 SubmittersRCV001225765 RCV005232191 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

CA397839091

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
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA397840177

rs_2073332791

3 SubmittersRCV001236518 RCV001270279 RCV005512965

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

CA397836764

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

CA397838990

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

CA397849217

rs_535274413

3 SubmittersRCV001243833 RCV003294139

NM_000546.6(TP53):c.560-3T>C

SNV
Germline

Chr17:7674974

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Conflicting Classifications

CA1139665127

rs_763746485

2 SubmittersRCV001233326 RCV005621085

NM_000546.6(TP53):c.1129A>C (p.Thr377Pro)

SNV
Germline

Chr17:7669662

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA000673

rs_774269719

2 SubmittersRCV001253109 RCV004789499

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

CA397840366

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

CA397845185

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

CA397836831

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

CA397842830

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

CA397836557

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

CA397842084

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

CA397836939

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

CA397829932

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

CA287485739

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

CA397832656

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
12 conditions

Criteria Provided
Conflicting Classifications

CA397836542

rs_121912663

3 SubmittersRCV001321508 RCV004951533 RCV005023036

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

CA397841990

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
Condition: not provided

Criteria Provided
Conflicting Classifications

CA397832140

rs_1555524382

4 SubmittersRCV001351201 RCV003169742 RCV004596447 RCV005253810

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

CA397836336

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

CA397840195

rs_1464727668

3 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
Li-Fraumeni syndrome 1

Criteria Provided
Conflicting Classifications

CA624727438

rs_1229638201

3 SubmittersRCV001337851 RCV002384451 RCV005621092

NM_000546.6(TP53):c.472C>A (p.Arg158Ser)

SNV
Germline

Chr17:7675140

Pathogenic

Li-Fraumeni syndrome

Criteria Provided
Single Submitter

CA397842037

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

CA397848491

rs_2151045740

1 SubmittersRCV001379766

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

CA397835908

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

CA397839294

rs_2151021924

2 SubmittersRCV001381122 RCV004037649

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

SNV
Germline

Chr17:7676048

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA397844657

rs_770776262

4 SubmittersRCV001386369 RCV005513041 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

CA2499224976

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

CA624865101

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

CA002087

rs_763373602

2 SubmittersRCV001494475 RCV001799092

NM_000546.6(TP53):c.1076C>G (p.Pro359Arg)

SNV
Germline

Chr17:7670633

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome

Criteria Provided
Conflicting Classifications

CA397831936

rs_1483922249

3 SubmittersRCV001525450 RCV002568096

NM_000546.6(TP53):c.811G>T (p.Glu271Ter)

SNV
Germline/somatic

Chr17:7673809

Pathogenic

Ovarian neoplasm
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA397837029

rs_1060501191

3 SubmittersRCV001527474 RCV002421175 RCV005094720

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

CA397840962

rs_1427441061

5 SubmittersRCV001550216 RCV002032580 RCV002290721 RCV002290720

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

CA497716791

rs_2151020056

3 SubmittersRCV001768395 RCV002405312 RCV003621607

NM_000546.6(TP53):c.166G>T (p.Glu56Ter)

SNV
Germline/somatic

Chr17:7676203

Likely pathogenic

Breast and/or ovarian cancer
Neoplasm

Criteria Provided
Single Submitter

CA397846394

rs_2151042536

2 SubmittersRCV001799468 RCV004671443

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

CA397841922

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

CA397846612

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

CA397838910

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

CA397836621

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

CA397837559

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

CA397836949

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

CA397831706

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

CA397839966

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

CA397836431

rs_201744589

2 SubmittersRCV001991580 RCV004785442

NM_000546.6(TP53):c.1080G>T (p.Gly360=)

SNV
Germline

Chr17:7670629

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
12 conditions

Criteria Provided
Conflicting Classifications

CA497712508

rs_2150994011

2 SubmittersRCV002000648 RCV005025578

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

CA2499306932

rs_2151082372

2 SubmittersRCV002031560 RCV002441237

NM_000546.6(TP53):c.981T>A (p.Tyr327Ter)

SNV
Germline

Chr17:7673547

Pathogenic

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA397835766

rs_879254077

2 SubmittersRCV001874295 RCV005513119

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

CA397846191

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

CA003226

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

Criteria Provided
Conflicting Classifications

CA397840127

rs_2073331490

4 SubmittersRCV002022697 RCV004681393 RCV003481246 RCV004046067

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

CA397837037

rs_1057519987

2 SubmittersRCV001940898 RCV004042022

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

CA397848447

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

CA397830797

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
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA397843946

rs_1567554500

3 SubmittersRCV001994856 RCV003483865 RCV005505332

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

CA397845581

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

CA397846527

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

CA397830821

rs_2150988865

2 SubmittersRCV002014214 RCV002458991

NM_000546.6(TP53):c.449C>T (p.Thr150Ile)

SNV
Germline/somatic

Chr17:7675163

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA397842231

rs_2151032692

3 SubmittersRCV002051311 RCV003229062 RCV005278906

NM_000546.6(TP53):c.337T>A (p.Phe113Ile)

SNV
Germline

Chr17:7676032

Pathogenic/Likely pathogenic

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA397844510

rs_587781642

2 SubmittersRCV001994985 RCV005515272

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

CA397844647

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

CA397840200

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

CA397842327

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

CA397841937

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

CA397839060

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

CA397842074

rs_563378859

3 SubmittersRCV002021337 RCV002337157

NM_000546.6(TP53):c.708C>G (p.Tyr236Ter)

SNV
Germline

Chr17:7674255

Pathogenic

Familial cancer of breast
Hereditary cancer-predisposing syndrome
TP53-related disorder

Criteria Provided
Single Submitter

CA397839237

rs_1597365202

3 SubmittersRCV002246782 RCV003155980 RCV004797639

NM_000546.6(TP53):c.129G>C (p.Leu43Phe)

SNV
Germline

Chr17:7676240

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA003217

rs_754332870

3 SubmittersRCV002257219

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

CA397843900

rs_1597371657

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

CA397842767

rs_1555526268

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
not specified
Li-Fraumeni syndrome

Criteria Provided
Conflicting Classifications

CA397844553

rs_1403707528

3 SubmittersRCV002454753 RCV004596538 RCV003775586

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

CA397849119

rs_1060501208

3 SubmittersRCV002363952 RCV003775735

NM_000546.6(TP53):c.376-5T>G

SNV
Germline

Chr17:7675241

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome

Criteria Provided
Conflicting Classifications

CA2576155462

rs_2151034251

2 SubmittersRCV002351049 RCV005096381

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

CA397843960

rs_886039483

2 SubmittersRCV002351076 RCV003094357

NM_000546.6(TP53):c.512A>G (p.Glu171Gly)

SNV
Germline

Chr17:7675100

Pathogenic

Hereditary cancer-predisposing syndrome

Criteria Provided
Single Submitter

CA397841596

rs_2543596753

1 SubmittersRCV002338161

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

CA397839938

rs_1555525743

2 SubmittersRCV002364323 RCV004054380

NM_000546.6(TP53):c.503A>T (p.His168Leu)

SNV
Germline

Chr17:7675109

Pathogenic

Hereditary cancer-predisposing syndrome

Criteria Provided
Single Submitter

CA397841747

rs_867114783

1 SubmittersRCV002335652

NM_000546.6(TP53):c.528C>A (p.Cys176Ter)

SNV
Germline

Chr17:7675084

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA397841425

rs_1057519980

3 SubmittersRCV003327303 RCV002344496 RCV005051963

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

CA397838884

rs_2151020426

2 SubmittersRCV002393970 RCV003509732

NM_000546.6(TP53):c.761T>C (p.Ile254Thr)

SNV
Germline/somatic

Chr17:7674202

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Acute myeloid leukemia
Li-Fraumeni syndrome 1
Li-Fraumeni syndrome

Criteria Provided
Conflicting Classifications

CA397837761

rs_1330865474

7 SubmittersRCV002396262 RCV002509835 RCV003454197 RCV003509733

NM_000546.6(TP53):c.799C>G (p.Arg267Gly)

SNV
Germline

Chr17:7673821

Pathogenic

Hereditary cancer-predisposing syndrome
Adrenocortical carcinoma, hereditary

Criteria Provided
Multiple Submitters
No Conflicts

CA397837125

rs_55832599

2 SubmittersRCV002419114 RCV003464488

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

SNV
Germline

Chr17:7674252

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA287488027

rs_587782664

4 SubmittersRCV002367440 RCV005055457 RCV004055277

NM_000546.6(TP53):c.738G>C (p.Met246Ile)

SNV
Germline

Chr17:7674225

Likely pathogenic

Hereditary cancer-predisposing syndrome

Criteria Provided
Single Submitter

CA397838992

rs_1019340046

1 SubmittersRCV002380451

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

CA397836767

rs_1204379654

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
Li-Fraumeni syndrome 1

Criteria Provided
Conflicting Classifications

CA497714331

rs_876660829

3 SubmittersRCV002371564 RCV003621641 RCV005621188

NM_000546.6(TP53):c.995T>A (p.Ile332Asn)

SNV
Germline

Chr17:7670714

Likely pathogenic

Hereditary cancer-predisposing syndrome

Criteria Provided
Single Submitter

CA397832951

rs_2150995433

1 SubmittersRCV002382949

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

CA397846483

rs_876658483

2 SubmittersRCV002398408 RCV003621650

NM_000546.6(TP53):c.1056T>G (p.Asp352Glu)

SNV
Germline

Chr17:7670653

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome

Criteria Provided
Conflicting Classifications

CA397832227

rs_2150994398

2 SubmittersRCV002399057 RCV005097705

NM_000546.6(TP53):c.1101-4A>G

SNV
Germline

Chr17:7669694

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Conflicting Classifications

CA2580094821

rs_2150988998

2 SubmittersRCV002432928 RCV005621203

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

CA497711624

rs_2150988956

2 SubmittersRCV002433009 RCV003621660

NM_000546.6(TP53):c.251C>T (p.Ala84Val)

SNV
Germline

Chr17:7676118

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA397845445

rs_2073469226

5 SubmittersRCV002433030 RCV004571148 RCV005098175 RCV004017935 RCV005232983

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

CA397845690

rs_587781832

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

CA397845383

rs_587782148

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

CA397845068

rs_2151040269

2 SubmittersRCV002441793 RCV003621665

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

SNV
Germline

Chr17:7669691

Pathogenic

Gastric cancer

No Assertion Criteria Provided

CA397830919

rs_876658982

1 SubmittersRCV003164579

NM_000546.6(TP53):c.576G>A (p.Gln192=)

SNV
Germline

Chr17:7674955

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA497925376

rs_2073344721

3 SubmittersRCV003071310 RCV005621233 RCV005288894

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

CA397844778

rs_1597373901

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

CA397841537

rs_876660754

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

CA397842022

rs_730882000

3 SubmittersRCV002600127 RCV003585285

NM_000546.6(TP53):c.991C>G (p.Gln331Glu)

SNV
Germline

Chr17:7673537

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA397835677

rs_1597359130

2 SubmittersRCV002681435 RCV005505474

NM_000546.6(TP53):c.987C>T (p.Thr329=)

SNV
Germline

Chr17:7673541

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA497713763

rs_2151010987

4 SubmittersRCV002796559 RCV004999812 RCV005621217

NM_000546.6(TP53):c.394A>T (p.Lys132Ter)

SNV
Germline

Chr17:7675218

Pathogenic

Li-Fraumeni syndrome

Criteria Provided
Single Submitter

CA397842904

rs_747342068

1 SubmittersRCV002838608

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

SNV
Germline

Chr17:7674886

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA397839990

rs_1057520001

3 SubmittersRCV002857438 RCV005505507

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

CA397849092

rs_2151047655

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

CA397844493

rs_2151038938

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

CA397832311

rs_141402957

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

CA397837521

rs_876659076

1 SubmittersRCV003140387

NM_000546.6(TP53):c.513G>T (p.Glu171Asp)

SNV
Somatic

Chr17:7675099

Pathogenic

Acute myeloid leukemia

No Assertion Criteria Provided

CA397841579

rs_1555526078

1 SubmittersRCV003159585

NM_000546.6(TP53):c.627A>C (p.Arg209Ser)

SNV
Germline

Chr17:7674904

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Adrenocortical carcinoma, hereditary

Criteria Provided
Conflicting Classifications

CA397840167

rs_2543584353

2 SubmittersRCV003177174 RCV004572869

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

SNV
Germline

Chr17:7673610

Likely pathogenic

Hereditary cancer-predisposing syndrome

Criteria Provided
Single Submitter

CA397836180

rs_397516439

1 SubmittersRCV003184920

NM_000546.6(TP53):c.782+2T>A

SNV
Germline

Chr17:7674179

Likely pathogenic

Hereditary cancer-predisposing syndrome

Criteria Provided
Single Submitter

CA397837526

rs_876659076

1 SubmittersRCV003214087

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

CA397839772

rs_863224499

2 SubmittersRCV003222898 RCV004285584

NM_000546.6(TP53):c.719G>A (p.Ser240Asn)

SNV
Somatic

Chr17:7674244

Pathogenic

Acute myeloid leukemia

No Assertion Criteria Provided

CA397839134

rs_2073256828

1 SubmittersRCV003229539

NM_000546.6(TP53):c.549A>T (p.Ser183=)

SNV
Somatic

Chr17:7675063

Pathogenic

Acute myeloid leukemia

No Assertion Criteria Provided

CA497925574

rs_1597369559

1 SubmittersRCV003229553

NM_000546.6(TP53):c.494A>T (p.Gln165Leu)

SNV
Somatic

Chr17:7675118

Pathogenic

Acute myeloid leukemia

No Assertion Criteria Provided

CA397841859

rs_2151031435

1 SubmittersRCV003234763

NM_000546.6(TP53):c.806G>T (p.Ser269Ile)

SNV
Somatic

Chr17:7673814

Likely pathogenic

Acute myeloid leukemia

No Assertion Criteria Provided

CA397837067

rs_2543545959

1 SubmittersRCV003320341

NM_000546.6(TP53):c.801G>C (p.Arg267=)

SNV
Somatic

Chr17:7673819

Likely pathogenic

Acute myeloid leukemia

No Assertion Criteria Provided

CA497716349

rs_1597362195

1 SubmittersRCV003320344

NM_000546.6(TP53):c.977A>T (p.Glu326Val)

SNV
Somatic

Chr17:7673551

Likely pathogenic

Acute myeloid leukemia

No Assertion Criteria Provided

CA397835794

rs_2151011218

1 SubmittersRCV003326290

NM_000546.6(TP53):c.96+2T>G

SNV
Germline

Chr17:7676380

Likely pathogenic

Hereditary cancer-predisposing syndrome

Criteria Provided
Single Submitter

CA397848247

rs_2073505429

1 SubmittersRCV003368551

NM_000546.6(TP53):c.325T>A (p.Phe109Ile)

SNV
Germline

Chr17:7676044

Likely pathogenic

Condition: not provided
Li-Fraumeni syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA397844614

rs_1057523496

2 SubmittersRCV004697289 RCV003387704

NM_000546.6(TP53):c.702C>A (p.Tyr234Ter)

SNV
Germline/somatic

Chr17:7674261

Pathogenic

TP53-related disorder
Neoplasm
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA397839298

rs_2151021924

4 SubmittersRCV003400069 RCV004673882 RCV003621705 RCV004362837

NM_000546.6(TP53):c.776A>C (p.Asp259Ala)

SNV
Somatic

Chr17:7674187

Pathogenic

Malignant lymphoma, large B-cell, diffuse

No Assertion Criteria Provided

CA397837636

rs_745425759

1 SubmittersRCV003449010

NM_000546.6(TP53):c.708C>A (p.Tyr236Ter)

SNV
Unknown

Chr17:7674255

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA397839240

rs_1597365202

1 SubmittersRCV003477387

NM_000546.6(TP53):c.339C>G (p.Phe113Leu)

SNV
Germline

Chr17:7676030

Pathogenic

Li-Fraumeni syndrome

Criteria Provided
Single Submitter

CA397844490

rs_2151038938

1 SubmittersRCV003510559

NM_000546.6(TP53):c.63C>G (p.Asp21Glu)

SNV
Germline

Chr17:7676532

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA003831

rs_1800369

2 SubmittersRCV003509873 RCV005505680

NM_000546.6(TP53):c.-29+1G>T

SNV
Germline

Chr17:7687376

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome

Criteria Provided
Conflicting Classifications

CA2635892666

rs_2151082372

2 SubmittersRCV003510440

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

CA397832502

rs_121912662

2 SubmittersRCV003510098 RCV004950464

NM_000546.6(TP53):c.716A>T (p.Asn239Ile)

SNV
Germline

Chr17:7674247

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA397839160

rs_1057519999

2 SubmittersRCV003509392 RCV005281429

NM_000546.6(TP53):c.853G>T (p.Glu285Ter)

SNV
Germline/somatic

Chr17:7673767

Pathogenic

Li-Fraumeni syndrome
Neoplasm

Criteria Provided
Single Submitter

CA397836737

rs_112431538

2 SubmittersRCV003510292 RCV005230535

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

CA397842108

rs_772683278

2 SubmittersRCV003510336 RCV004950481

NM_000546.6(TP53):c.1066G>A (p.Gly356Arg)

SNV
Germline

Chr17:7670643

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA287485729

rs_766786605

2 SubmittersRCV003585848

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

CA397836252

rs_2151013719

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

CA397839367

rs_1555525562

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

CA397832453

rs_2150994772

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

CA397832608

rs_864622369

2 SubmittersRCV004016228 RCV004371957

NM_000546.6(TP53):c.812A>T (p.Glu271Val)

SNV
Germline

Chr17:7673808

Likely pathogenic

Li-Fraumeni syndrome 1
Li-Fraumeni syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA397837027

rs_2151016523

2 SubmittersRCV004437827 RCV005104626

NM_000546.6(TP53):c.112C>T (p.Gln38Ter)

SNV
Germline

Chr17:7676257

Pathogenic

Li-Fraumeni syndrome 1
Li-Fraumeni syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA397847971

rs_2151043525

2 SubmittersRCV004440023 RCV005104629

NM_000546.6(TP53):c.560-2A>G

SNV
Unknown

Chr17:7674973

Likely pathogenic

Li-Fraumeni syndrome 1

Criteria Provided
Single Submitter

CA397840954

rs_1427441061

1 SubmittersRCV004440060

NM_000546.6(TP53):c.782+1G>C

SNV
Unknown

Chr17:7674180

Likely pathogenic

Li-Fraumeni syndrome 1

Criteria Provided
Single Submitter

CA397837534

rs_1555525429

1 SubmittersRCV004440069

NM_000546.6(TP53):c.97-2A>C

SNV
Unknown

Chr17:7676274

Pathogenic

Li-Fraumeni syndrome 1

Criteria Provided
Single Submitter

CA397848101

rs_879254212

1 SubmittersRCV004440133

NM_000546.6(TP53):c.560-1G>T

SNV
Unknown

Chr17:7674972

Likely pathogenic

Li-Fraumeni syndrome 1

Criteria Provided
Single Submitter

CA397840943

rs_1202793339

1 SubmittersRCV004440153

NM_000546.6(TP53):c.617T>A (p.Leu206Ter)

SNV
Unknown

Chr17:7674914

Pathogenic

Li-Fraumeni syndrome 1

Criteria Provided
Single Submitter

CA397840269

rs_1555525804

1 SubmittersRCV004440232

NM_000546.6(TP53):c.1100+1G>T

SNV
Unknown

Chr17:7670608

Likely pathogenic

Li-Fraumeni syndrome 1

Criteria Provided
Single Submitter

CA397831713

rs_2150993650

1 SubmittersRCV004440339

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

SNV
Unknown

Chr17:7673610

Likely pathogenic

Li-Fraumeni syndrome 1

Criteria Provided
Single Submitter

CA397836182

rs_397516439

1 SubmittersRCV004440368

NM_000546.6(TP53):c.757A>C (p.Thr253Pro)

SNV
Germline

Chr17:7674206

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA397838866

rs_1597364185

3 SubmittersRCV004442665 RCV004442664 RCV005104647

NM_000546.6(TP53):c.1171G>A (p.Asp391Asn)

SNV
Germline

Chr17:7669620

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Adrenocortical carcinoma, hereditary

Criteria Provided
Conflicting Classifications

CA397830082

rs_2150988074

2 SubmittersRCV004518764 RCV004573481

NM_000546.6(TP53):c.714T>A (p.Cys238Ter)

SNV
Germline

Chr17:7674249

Pathogenic

Hereditary cancer-predisposing syndrome

Criteria Provided
Single Submitter

CA397839181

rs_193920789

1 SubmittersRCV004518777

NM_000546.6(TP53):c.503A>C (p.His168Pro)

SNV
Germline

Chr17:7675109

Likely pathogenic

Hereditary cancer-predisposing syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV004677189

NM_000546.6(TP53):c.874A>T (p.Lys292Ter)

SNV
Germline

Chr17:7673746

Pathogenic

Li-Fraumeni syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV004701202

NM_000546.6(TP53):c.130A>G (p.Met44Val)

SNV
Germline

Chr17:7676239

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV004949417 RCV005109942

NM_000546.6(TP53):c.440T>G (p.Val147Gly)

SNV
Germline

Chr17:7675172

Likely pathogenic

Li-Fraumeni syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005055475

NM_000546.6(TP53):c.1006G>T (p.Glu336Ter)

SNV
Germline

Chr17:7670703

Likely pathogenic

Li-Fraumeni syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005055477

NM_000546.6(TP53):c.337T>C (p.Phe113Leu)

SNV
Germline

Chr17:7676032

Pathogenic

Li-Fraumeni syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005109055

NM_000546.6(TP53):c.405C>A (p.Cys135Ter)

SNV
Germline

Chr17:7675207

Pathogenic

Li-Fraumeni syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005127514

NM_000546.6(TP53):c.497C>A (p.Ser166Ter)

SNV
Germline

Chr17:7675115

Pathogenic

Li-Fraumeni syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005140313

NM_000546.6(TP53):c.69G>A (p.Trp23Ter)

SNV
Germline

Chr17:7676526

Pathogenic

Li-Fraumeni syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005153408

NM_000546.6(TP53):c.673-39G>A

SNV
Germline

Chr17:7674329

Likely pathogenic

Li-Fraumeni syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005356895

NM_000546.6(TP53):c.*8C>T

SNV
Germline

Chr17:7669601

Conflicting classifications of pathogenicity

Familial pancreatic carcinoma
Li-Fraumeni syndrome 1

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005358552 RCV005621343

NM_000546.6(TP53):c.546C>A (p.Cys182Ter)

SNV
Germline

Chr17:7675066

Pathogenic

Hereditary cancer-predisposing syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005287977

NM_000546.6(TP53):c.404G>C (p.Cys135Ser)

SNV
Germline

Chr17:7675208

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV005402362

NM_000546.6(TP53):c.783-1G>C

SNV
Unknown

Chr17:7673838

Likely pathogenic

Li-Fraumeni syndrome 1

Criteria Provided
Single Submitter

1 SubmittersRCV005424480

NM_000546.6(TP53):c.718A>T (p.Ser240Cys)

SNV
Germline

Chr17:7674245

Likely pathogenic

Hereditary cancer-predisposing syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005506935

NM_000546.6(TP53):c.370T>C (p.Cys124Arg)

SNV
Germline

Chr17:7675999

Likely pathogenic

Li-Fraumeni syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005600511