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 Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Condition: not provided Neoplasm 7 conditions Ovarian neoplasm Choroid plexus carcinoma Lip and oral cavity carcinoma Gallbladder cancer Malignant lymphoma, large B-cell, diffuse Congenital fibrosarcoma Adrenocortical carcinoma, hereditary Gastric cancer Breast and/or ovarian cancer TP53-related disorder	Reviewed By Expert Panel	CA000382	rs_121912651	33 SubmittersRCV000013140 RCV000168242 RCV000115735 RCV000213057 RCV000438698 RCV000735293 RCV000785485 RCV001271100 RCV001255674 RCV001374442 RCV003318332 RCV003105772 RCV003460463 RCV003162243 RCV003149569 RCV004745154
NM_000546.6(TP53):c.734G>A (p.Gly245Asp)	SNV Germline/somatic	Chr17:7674229	Pathogenic/Likely pathogenic	Li-Fraumeni syndrome 1 Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Ovarian neoplasm Condition: not provided Adrenocortical carcinoma, hereditary	Criteria Provided Multiple Submitters No Conflicts	CA000371	rs_121912656	9 SubmittersRCV000013149 RCV000164465 RCV000206683 RCV000785472 RCV000986053 RCV003473082
NM_000546.6(TP53):c.743G>A (p.Arg248Gln)	SNV Germline/somatic	Chr17:7674220	Pathogenic	Li-Fraumeni syndrome 1 Hereditary cancer-predisposing syndrome Sarcoma Li-Fraumeni syndrome Condition: not provided Multiple myeloma Neoplasm 11 conditions Lymphoma Ovarian neoplasm Lip and oral cavity carcinoma Rhabdomyosarcoma Familial cancer of breast Breast carcinoma Ductal carcinoma in situ Gastric cancer Malignant tumor of urinary bladder Adrenocortical carcinoma, hereditary Adrenal cortex carcinoma TP53-related disorder Hereditary breast ovarian cancer syndrome Colorectal cancer	Reviewed By Expert Panel	CA000387	rs_11540652	43 SubmittersRCV000013150 RCV000115736 RCV000148913 RCV000197114 RCV000235221 RCV000424869 RCV000426606 RCV000763417 RCV000790860 RCV000785344 RCV001255671 RCV001257519 RCV001270275 RCV001554245 RCV001527465 RCV003162244 RCV003332079 RCV003466852 RCV003996090 RCV004745155 RCV004794335 RCV004813032
NM_000546.6(TP53):c.844C>T (p.Arg282Trp)	SNV Germline/somatic	Chr17:7673776	Pathogenic/Likely pathogenic	Li-fraumeni-like syndrome Li-Fraumeni syndrome Li-Fraumeni syndrome 1 Condition: not provided Hereditary cancer-predisposing syndrome Squamous cell carcinoma of the head and neck Astrocytoma, anaplastic Pleomorphic xanthoastrocytoma Ovarian neoplasm Colorectal cancer Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype Neoplasm TP53-related disorder Adrenocortical carcinoma, hereditary	Criteria Provided Multiple Submitters No Conflicts	CA000454	rs_28934574	34 SubmittersRCV000013161 RCV000148905 RCV000144670 RCV000236400 RCV000210145 RCV000441472 RCV000722016 RCV000785546 RCV001270278 RCV003315223 RCV004668718 RCV004797589 RCV004566738
NM_000546.6(TP53):c.733G>A (p.Gly245Ser)	SNV Germline/somatic	Chr17:7674230	Pathogenic	Li-fraumeni-like syndrome Adenocarcinoma Condition: not provided Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1 Li-Fraumeni syndrome Atypical teratoid rhabdoid tumor Astrocytoma, anaplastic Ovarian neoplasm Colorectal cancer Familial ovarian cancer Breast carcinoma 12 conditions Gastric cancer Malignant tumor of urinary bladder Adrenocortical carcinoma, hereditary TP53-related disorder See cases	Reviewed By Expert Panel	CA000367	rs_28934575	34 SubmittersRCV000013162 RCV000148909 RCV000154014 RCV000130147 RCV000144669 RCV000226657 RCV000587017 RCV000588736 RCV000785316 RCV001270274 RCV001354825 RCV001642222 RCV002496337 RCV003162245 RCV003332080 RCV003460464 RCV003914832 RCV004797759
NM_000546.6(TP53):c.818G>A (p.Arg273His)	SNV Germline/somatic	Chr17:7673802	Pathogenic	Li-Fraumeni syndrome 1 Thyroid gland undifferentiated (anaplastic) carcinoma Hereditary cancer-predisposing syndrome Condition: not provided Squamous cell carcinoma of the head and neck Lung adenocarcinoma Neoplasm Li-Fraumeni syndrome Ovarian neoplasm Rhabdomyosarcoma Malignant tumor of breast Multiple myeloma Colorectal cancer Familial cancer of breast 12 conditions Gastric cancer Breast and/or ovarian cancer Adrenocortical carcinoma, hereditary TP53-related disorder	Reviewed By Expert Panel	CA000434	rs_28934576	36 SubmittersRCV000013163 RCV000013164 RCV000115738 RCV000254693 RCV000422097 RCV000431361 RCV000441169 RCV000463420 RCV000785345 RCV001257517 RCV001358389 RCV001527470 RCV001527484 RCV002476955 RCV003162246 RCV003492292 RCV003466853 RCV004797590
NM_000546.6(TP53):c.451C>A (p.Pro151Thr)	SNV Germline/somatic	Chr17:7675161	Pathogenic/Likely pathogenic	Breast adenocarcinoma Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Condition: not provided Rhabdomyosarcoma Li-Fraumeni syndrome 1 Adrenocortical carcinoma, hereditary	Criteria Provided Multiple Submitters No Conflicts	CA000198	rs_28934874	8 SubmittersRCV000013168 RCV000130617 RCV000691152 RCV000520731 RCV001257524 RCV002288486 RCV004566739
NM_000546.6(TP53):c.524G>A (p.Arg175His)	SNV Germline/somatic	Chr17:7675088	Pathogenic	Li-Fraumeni syndrome 1 Hereditary cancer-predisposing syndrome Malignant tumor of esophagus Condition: not provided Li-Fraumeni syndrome Neoplasm Ovarian neoplasm Lip and oral cavity carcinoma Squamous cell carcinoma of the head and neck Familial cancer of breast Colorectal cancer 12 conditions Adrenocortical carcinoma, hereditary Gastric cancer TP53-related disorder	Reviewed By Expert Panel	CA000251	rs_28934578	31 SubmittersRCV000013173 RCV000131301 RCV000239398 RCV000213054 RCV000204931 RCV000421746 RCV000785352 RCV001255668 RCV001270268 RCV001527463 RCV001270269 RCV002476956 RCV003466854 RCV003162247 RCV004797760
NM_000546.6(TP53):c.1031T>C (p.Leu344Pro)	SNV Germline/somatic	Chr17:7670678	Likely pathogenic	Li-Fraumeni syndrome 1 Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Adrenal cortex carcinoma Adrenocortical carcinoma, hereditary	Reviewed By Expert Panel	CA000021	rs_121912662	6 SubmittersRCV000013174 RCV000991141 RCV002390102 RCV003996091 RCV003473083
NM_000546.6(TP53):c.1010G>A (p.Arg337His)	SNV Germline	Chr17:7670699	Pathogenic/Likely pathogenic	ADRENOCORTICAL CARCINOMA, PEDIATRIC Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Breast neoplasm Li-Fraumeni syndrome 1 Condition: not provided Squamous cell carcinoma of the head and neck Hereditary breast ovarian cancer syndrome Adrenocortical carcinoma, hereditary 12 conditions Gastric cancer TP53-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA000013	rs_121912664	24 SubmittersRCV000013178 RCV000128923 RCV000197240 RCV000413754 RCV000576817 RCV000481814 RCV000989700 RCV002307364 RCV001375632 RCV002496338 RCV003162248 RCV004797591
NM_000546.6(TP53):c.854A>T (p.Glu285Val)	SNV Germline	Chr17:7673766	Pathogenic	ADRENOCORTICAL CARCINOMA, PEDIATRIC Choroid plexus carcinoma Li-Fraumeni syndrome	Criteria Provided Single Submitter	CA000463	rs_121912667	2 SubmittersRCV000013184 RCV000013185 RCV000813961
NM_000546.6(TP53):c.586C>T (p.Arg196Ter)	SNV Germline/somatic	Chr17:7674945	Pathogenic	Condition: not provided Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome not specified TP53-related disorder Ovarian neoplasm Li-Fraumeni syndrome 1 Adrenocortical carcinoma, hereditary	Criteria Provided Multiple Submitters No Conflicts	CA000282	rs_397516435	20 SubmittersRCV000412710 RCV000131510 RCV000205265 RCV001527464 RCV004797592 RCV000785329 RCV002288535 RCV003473274
NM_000546.6(TP53):c.817C>T (p.Arg273Cys)	SNV Germline/somatic	Chr17:7673803	Pathogenic/Likely pathogenic	Li-Fraumeni syndrome 1 Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Malignant tumor of prostate Condition: not provided Neoplasm Ovarian neoplasm Adrenocortical carcinoma, hereditary Multiple myeloma TP53-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA000432	rs_121913343	23 SubmittersRCV000144665 RCV000131966 RCV000205625 RCV000149051 RCV000254692 RCV000431786 RCV000785470 RCV003466889 RCV004595896 RCV004745172
NM_000546.6(TP53):c.466C>T (p.Arg156Cys)	SNV Germline	Chr17:7675146	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Li-Fraumeni syndrome Li-Fraumeni syndrome 1 11 conditions not specified Adrenocortical carcinoma, hereditary	Criteria Provided Conflicting Classifications	CA000214	rs_563378859	12 SubmittersRCV000115721 RCV000213051 RCV000232885 RCV000409094 RCV000764146 RCV002465516 RCV003467058
NM_000546.6(TP53):c.535C>T (p.His179Tyr)	SNV Germline/somatic	Chr17:7675077	Pathogenic/Likely pathogenic	Condition: not provided Adrenocortical carcinoma, hereditary Hereditary cancer-predisposing syndrome Neoplasm Li-Fraumeni syndrome Li-Fraumeni syndrome 1 Ovarian neoplasm	Criteria Provided Multiple Submitters No Conflicts	CA000256	rs_587780070	9 SubmittersRCV000115726 RCV003460828 RCV002288597 RCV004668781 RCV000555493 RCV000663095 RCV000785312
NM_000546.6(TP53):c.604C>T (p.Arg202Cys)	SNV Germline	Chr17:7674927	Conflicting classifications of pathogenicity	Condition: not provided Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1 TP53-related disorder Adrenocortical carcinoma, hereditary	Criteria Provided Conflicting Classifications	CA000288	rs_587780072	12 SubmittersRCV000115729 RCV000473040 RCV000563913 RCV001257499 RCV004724809 RCV004567015
NM_000546.6(TP53):c.659A>G (p.Tyr220Cys)	SNV Germline/somatic	Chr17:7674872	Pathogenic	Hereditary cancer-predisposing syndrome Condition: not provided Li-Fraumeni syndrome Squamous cell carcinoma of the head and neck Ovarian neoplasm Li-Fraumeni syndrome 1 Breast carcinoma B-cell chronic lymphocytic leukemia 12 conditions Gastric cancer Adrenocortical carcinoma, hereditary TP53-related disorder Adrenal cortex carcinoma Neoplasm	Reviewed By Expert Panel	CA000315	rs_121912666	27 SubmittersRCV000115731 RCV000213055 RCV000232050 RCV000433936 RCV000785544 RCV001310212 RCV001579295 RCV001527468 RCV002490776 RCV003162539 RCV003460829 RCV003407499 RCV003997298 RCV004668782
NM_000546.6(TP53):c.638G>A (p.Arg213Gln)	SNV Germline/somatic	Chr17:7674893	Pathogenic/Likely pathogenic	not specified Li-Fraumeni syndrome Li-Fraumeni syndrome 1 Hereditary cancer-predisposing syndrome Condition: not provided Poly (ADP-Ribose) polymerase inhibitor response Lip and oral cavity carcinoma Breast and/or ovarian cancer Adrenocortical carcinoma, hereditary TP53-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA000302	rs_587778720	25 SubmittersRCV000122176 RCV000123099 RCV000144664 RCV000130072 RCV000420734 RCV000626448 RCV001255672 RCV001798386 RCV003460862 RCV004745203
NM_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.799C>T (p.Arg267Trp)	SNV Germline/somatic	Chr17:7673821	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Condition: not provided Li-Fraumeni syndrome 11 conditions Lip and oral cavity carcinoma Familial cancer of breast Li-Fraumeni syndrome 1 Breast and/or ovarian cancer Adrenocortical carcinoma, hereditary TP53-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA000423	rs_55832599	19 SubmittersRCV000130398 RCV000413074 RCV000538977 RCV000763416 RCV001255676 RCV002247507 RCV002288637 RCV003149899 RCV003460927 RCV004797597
NM_000546.6(TP53):c.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.473G>A (p.Arg158His)	SNV Germline	Chr17:7675139	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Condition: not provided Li-Fraumeni syndrome Li-Fraumeni syndrome 1 Rhabdomyosarcoma Adrenocortical carcinoma, hereditary Breast and/or ovarian cancer 12 conditions TP53-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA000227	rs_587782144	26 SubmittersRCV000130708 RCV000255654 RCV000227859 RCV000496787 RCV001257522 RCV003461996 RCV003492603 RCV004796030 RCV004797598
NM_000546.6(TP53):c.994-1G>A	SNV Germline	Chr17:7670716	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Condition: not provided Li-Fraumeni syndrome Li-Fraumeni syndrome 1 Adrenocortical carcinoma, hereditary	Criteria Provided Multiple Submitters No Conflicts	CA000528	rs_587782272	7 SubmittersRCV000131124 RCV000786811 RCV001380070 RCV002288645 RCV003992194
NM_000546.6(TP53):c.542G>A (p.Arg181His)	SNV Germline/somatic	Chr17:7675070	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Condition: not provided Li-Fraumeni syndrome 1 Squamous cell carcinoma of the head and neck Carcinoma of pancreas Familial cancer of breast Adrenocortical carcinoma, hereditary TP53-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA000259	rs_397514495	24 SubmittersRCV000131382 RCV000168247 RCV000255239 RCV000576528 RCV000989718 RCV001391195 RCV001527471 RCV003462011 RCV004745211
NM_000546.6(TP53):c.1009C>T (p.Arg337Cys)	SNV Germline/somatic	Chr17:7670700	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Ovarian neoplasm Li-Fraumeni syndrome 1 Condition: not provided Adrenocortical carcinoma, hereditary Neoplasm	Criteria Provided Multiple Submitters No Conflicts	CA000010	rs_587782529	13 SubmittersRCV000131726 RCV000475086 RCV000785479 RCV001310211 RCV001781474 RCV003467184 RCV004668798
NM_000546.6(TP53):c.541C>T (p.Arg181Cys)	SNV Germline	Chr17:7675071	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Condition: not provided Adrenocortical carcinoma, hereditary Familial cancer of breast	Criteria Provided Conflicting Classifications	CA000257	rs_587782596	7 SubmittersRCV000131943 RCV000168292 RCV000236276 RCV003474780 RCV004544301
NM_000546.6(TP53):c.427G>A (p.Val143Met)	SNV Germline	Chr17:7675185	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Adrenocortical carcinoma, hereditary Li-Fraumeni syndrome 1 Breast neoplasm Condition: not provided Malignant tumor of breast	Criteria Provided Conflicting Classifications	CA000176	rs_587782620	9 SubmittersRCV000132003 RCV000227179 RCV003474783 RCV000409072 RCV000413546 RCV001560552 RCV001354661
NM_000546.6(TP53):c.711G>A (p.Met237Ile)	SNV Germline/somatic	Chr17:7674252	Pathogenic	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome not specified Ovarian neoplasm Breast and/or ovarian cancer Condition: not provided Adrenocortical carcinoma, hereditary Neoplasm Li-Fraumeni syndrome 1	Reviewed By Expert Panel	CA000349	rs_587782664	11 SubmittersRCV000132084 RCV000464261 RCV000581940 RCV000785336 RCV001271055 RCV001567943 RCV003462031 RCV004668799 RCV001527088
NM_000546.6(TP53):c.455C>T (p.Pro152Leu)	SNV Germline/somatic	Chr17:7675157	Pathogenic	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Lip and oral cavity carcinoma Neoplasm TP53-related disorder Condition: not provided Li-Fraumeni syndrome 1 Familial cancer of breast Squamous cell carcinoma of the head and neck Adrenocortical carcinoma, hereditary	Reviewed By Expert Panel	CA000204	rs_587782705	19 SubmittersRCV000132156 RCV000168122 RCV001255632 RCV004668801 RCV004797600 RCV000583667 RCV000677669 RCV000755703 RCV001270267 RCV003462034
NM_000546.6(TP53):c.481G>A (p.Ala161Thr)	SNV Germline/somatic	Chr17:7675131	Pathogenic/Likely pathogenic	Malignant tumor of prostate Condition: not provided Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1 Ovarian neoplasm Li-Fraumeni syndrome Adrenocortical carcinoma, hereditary	Criteria Provided Multiple Submitters No Conflicts	CA000234	rs_193920817	9 SubmittersRCV000149053 RCV000161027 RCV000214033 RCV000761073 RCV000785328 RCV000473543 RCV003474797
NM_000546.6(TP53):c.375G>A (p.Thr125=)	SNV Germline/somatic	Chr17:7675994	Pathogenic/Likely pathogenic	Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Condition: not provided Breast and/or ovarian cancer Glioma susceptibility 1 Li-Fraumeni syndrome 1 Neoplasm TP53-related disorder Adrenocortical carcinoma, hereditary Malignant tumor of prostate Rhabdomyosarcoma	Criteria Provided Multiple Submitters No Conflicts	CA000144	rs_55863639	23 SubmittersRCV000154460 RCV000218743 RCV000483667 RCV001271053 RCV001530197 RCV002288665 RCV004668810 RCV003398806 RCV003462060 RCV001527480 RCV001257525
NM_000546.6(TP53):c.1024C>T (p.Arg342Ter)	SNV Germline/somatic	Chr17:7670685	Pathogenic	Hereditary cancer-predisposing syndrome Condition: not provided Li-Fraumeni syndrome Ovarian neoplasm Gallbladder cancer Colonic diverticula Li-Fraumeni syndrome 1 12 conditions Adrenocortical carcinoma, hereditary TP53-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA000019	rs_730882029	20 SubmittersRCV000161074 RCV000213069 RCV000549233 RCV000785301 RCV001374440 RCV001554321 RCV002288707 RCV002492644 RCV003474838 RCV004797601
NM_000546.6(TP53):c.728T>C (p.Met243Thr)	SNV Germline	Chr17:7674235	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Adrenocortical carcinoma, hereditary	Criteria Provided Conflicting Classifications	CA000365	rs_730882006	4 SubmittersRCV000161035 RCV000222280 RCV000686581 RCV003462110
NM_000546.6(TP53):c.713G>A (p.Cys238Tyr)	SNV Germline/somatic	Chr17:7674250	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Ovarian neoplasm Condition: not provided Li-Fraumeni syndrome 1 Hereditary breast ovarian cancer syndrome Gallbladder cancer Adrenocortical carcinoma, hereditary Neoplasm	Criteria Provided Multiple Submitters No Conflicts	CA000351	rs_730882005	12 SubmittersRCV000161034 RCV000167907 RCV000785261 RCV000235220 RCV002288693 RCV004794368 RCV001374444 RCV003462109 RCV004668817
NM_000546.6(TP53):c.646G>A (p.Val216Met)	SNV Germline/somatic	Chr17:7674885	Pathogenic/Likely pathogenic	Condition: not provided Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome not specified Li-Fraumeni syndrome 1 Ovarian neoplasm Adrenocortical carcinoma, hereditary Neoplasm	Criteria Provided Multiple Submitters No Conflicts	CA000308	rs_730882025	14 SubmittersRCV000161067 RCV000168150 RCV000561534 RCV000583984 RCV000663213 RCV000785523 RCV003474837 RCV004668819
NM_000546.6(TP53):c.575A>G (p.Gln192Arg)	SNV Germline	Chr17:7674956	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Li-Fraumeni syndrome 1 Adrenocortical carcinoma, hereditary	Criteria Provided Conflicting Classifications	CA000273	rs_730882002	5 SubmittersRCV000161029 RCV001024490 RCV001371035 RCV002288689 RCV003462108
NM_000546.6(TP53):c.380C>T (p.Ser127Phe)	SNV Germline/somatic	Chr17:7675232	Pathogenic/Likely pathogenic	Condition: not provided not specified Ovarian neoplasm Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Adrenocortical carcinoma, hereditary Li-Fraumeni syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA000148	rs_730881999	9 SubmittersRCV000161024 RCV000606528 RCV000785332 RCV000633384 RCV003162681 RCV003474836 RCV004019945
NM_000546.6(TP53):c.830G>A (p.Cys277Tyr)	SNV Germline	Chr17:7673790	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Adrenocortical carcinoma, hereditary Condition: not provided Malignant tumor of breast	Criteria Provided Conflicting Classifications	CA000438	rs_763098116	8 SubmittersRCV000165199 RCV000456858 RCV003474865 RCV000254809 RCV001357202
NM_000546.6(TP53):c.578A>G (p.His193Arg)	SNV Germline/somatic	Chr17:7674953	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Condition: not provided Squamous cell carcinoma of the head and neck Li-Fraumeni syndrome Ovarian neoplasm Li-Fraumeni syndrome 1 Adrenocortical carcinoma, hereditary	Criteria Provided Multiple Submitters No Conflicts	CA000274	rs_786201838	9 SubmittersRCV000164329 RCV000255425 RCV000429618 RCV000460847 RCV000785346 RCV002288732 RCV003474857
NM_000546.6(TP53):c.527G>A (p.Cys176Tyr)	SNV Germline/somatic	Chr17:7675085	Pathogenic	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Condition: not provided Adrenal cortex carcinoma Familial ovarian cancer Li-Fraumeni syndrome 1 Squamous cell carcinoma TP53-related disorder Adrenocortical carcinoma, hereditary	Criteria Provided Multiple Submitters No Conflicts	CA000254	rs_786202962	9 SubmittersRCV000166045 RCV000461158 RCV000255616 RCV003995473 RCV001354219 RCV002288754 RCV003128588 RCV003407616 RCV003474872
NM_000546.6(TP53):c.413C>T (p.Ala138Val)	SNV Germline/somatic	Chr17:7675199	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Adrenocortical carcinoma, hereditary Li-Fraumeni syndrome 1 Adrenal cortex carcinoma	Criteria Provided Conflicting Classifications	CA000168	rs_750600586	5 SubmittersRCV000164195 RCV000813957 RCV003474852 RCV004019963 RCV003995323
NM_000546.6(TP53):c.374C>T (p.Thr125Met)	SNV Germline/somatic	Chr17:7675995	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Li-Fraumeni syndrome Li-Fraumeni syndrome 1 Adrenocortical carcinoma, hereditary Neoplasm TP53-related disorder	Criteria Provided Conflicting Classifications	CA000140	rs_786201057	18 SubmittersRCV000162461 RCV000237013 RCV000457119 RCV000576336 RCV003462117 RCV004668821 RCV004797602
NM_000546.6(TP53):c.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.824G>A (p.Cys275Tyr)	SNV Germline/somatic	Chr17:7673796	Pathogenic/Likely pathogenic	Li-Fraumeni syndrome Condition: not provided Hereditary cancer-predisposing syndrome Breast carcinoma Acute myeloid leukemia Ovarian neoplasm Neoplasm Adrenocortical carcinoma, hereditary Li-Fraumeni syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA337141	rs_863224451	13 SubmittersRCV000197359 RCV000235315 RCV000568594 RCV001610519 RCV003320135 RCV000785533 RCV004668842 RCV003468892 RCV002288809
NM_000546.6(TP53):c.672+1G>A	SNV Germline/somatic	Chr17:7674858	Pathogenic/Likely pathogenic	Li-Fraumeni syndrome Condition: not provided Li-Fraumeni syndrome 1 Hereditary cancer-predisposing syndrome Neoplasm Adrenocortical carcinoma, hereditary	Criteria Provided Multiple Submitters No Conflicts	CA339249	rs_863224499	9 SubmittersRCV000200333 RCV000786828 RCV002288813 RCV002288814 RCV004668847 RCV003474954
NM_000546.6(TP53):c.584T>C (p.Ile195Thr)	SNV Germline/somatic	Chr17:7674947	Conflicting classifications of pathogenicity	Lung adenocarcinoma Condition: not provided Li-Fraumeni syndrome Ovarian neoplasm Hereditary cancer-predisposing syndrome Breast and/or ovarian cancer Adrenocortical carcinoma, hereditary Li-Fraumeni syndrome 1 Neoplasm TP53-related disorder	Criteria Provided Conflicting Classifications	CA002232	rs_760043106	13 SubmittersRCV000421097 RCV000487386 RCV000198789 RCV000785324 RCV001024600 RCV001271054 RCV003474953 RCV002288812 RCV004668846 RCV004725053
NM_000546.6(TP53):c.743G>T (p.Arg248Leu)	SNV Germline	Chr17:7674220	Pathogenic	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Adrenocortical carcinoma, hereditary Li-Fraumeni syndrome 1	Reviewed By Expert Panel	CA10580924	rs_11540652	6 SubmittersRCV000219834 RCV000991149 RCV003475005 RCV004020650
NM_000546.6(TP53):c.715A>G (p.Asn239Asp)	SNV Germline	Chr17:7674248	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Malignant tumor of breast Adrenocortical carcinoma, hereditary Li-Fraumeni syndrome 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA10580926	rs_876660807	7 SubmittersRCV000223044 RCV000560536 RCV001355898 RCV003475037 RCV004020697 RCV003137828
NM_000546.6(TP53):c.329G>C (p.Arg110Pro)	SNV Germline	Chr17:7676040	Pathogenic/Likely pathogenic	Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1 Familial cancer of breast Adrenocortical carcinoma, hereditary	Criteria Provided Multiple Submitters No Conflicts	CA10580948	rs_11540654	6 SubmittersRCV000231991 RCV000222678 RCV002288889 RCV004698486 RCV003462528
NM_000546.6(TP53):c.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.845G>A (p.Arg282Gln)	SNV Germline	Chr17:7673775	Conflicting classifications of pathogenicity	Li-Fraumeni syndrome not specified Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1 Condition: not provided Adrenocortical carcinoma, hereditary Hereditary breast ovarian cancer syndrome Malignant tumor of breast	Criteria Provided Conflicting Classifications	CA10575441	rs_730882008	13 SubmittersRCV000226273 RCV000235474 RCV000492420 RCV000709768 RCV000767028 RCV003463657 RCV003483584 RCV001357626
NM_000546.6(TP53):c.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.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.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.842A>C (p.Asp281Ala)	SNV Unknown	Chr17:7673778	Likely pathogenic	Adrenocortical carcinoma, hereditary	Criteria Provided Single Submitter	CA16603011	rs_587781525	1 SubmittersRCV003463826
NM_000546.6(TP53):c.809T>G (p.Phe270Cys)	SNV Germline	Chr17:7673811	Conflicting classifications of pathogenicity	Adrenocortical carcinoma, hereditary Condition: not provided Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA16603019	rs_1057519986	5 SubmittersRCV003470375 RCV002508212 RCV001805037 RCV002524696 RCV004022213
NM_000546.6(TP53):c.730G>A (p.Gly244Ser)	SNV Germline/somatic	Chr17:7674233	Pathogenic	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Rhabdomyosarcoma Li-Fraumeni syndrome 1 Gastric cancer Malignant tumor of urinary bladder Adrenocortical carcinoma, hereditary Neoplasm	Criteria Provided Multiple Submitters No Conflicts	CA16603022	rs_1057519989	9 SubmittersRCV000492366 RCV000633372 RCV001257520 RCV002289524 RCV003168616 RCV003332172 RCV003476007 RCV004668954
NM_000546.6(TP53):c.734G>T (p.Gly245Val)	SNV Germline/somatic	Chr17:7674229	Pathogenic	Adrenocortical carcinoma, hereditary Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Condition: not provided Neoplasm Li-Fraumeni syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA001743	rs_121912656	6 SubmittersRCV003476008 RCV000558455 RCV001026313 RCV001548147 RCV004668955 RCV002289525
NM_000546.6(TP53):c.536A>T (p.His179Leu)	SNV Germline	Chr17:7675076	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Adrenocortical carcinoma, hereditary Condition: not provided Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA16603029	rs_1057519991	5 SubmittersRCV002348143 RCV000705316 RCV003476009 RCV004721352 RCV004022217
NM_000546.6(TP53):c.535C>G (p.His179Asp)	SNV Germline	Chr17:7675077	Pathogenic/Likely pathogenic	not specified Li-Fraumeni syndrome 1 Hereditary cancer-predisposing syndrome Adrenocortical carcinoma, hereditary Li-Fraumeni syndrome	Criteria Provided Multiple Submitters No Conflicts	CA16603031	rs_587780070	5 SubmittersRCV002465649 RCV003335320 RCV002348144 RCV003470376 RCV001851020
NM_000546.6(TP53):c.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.833C>A (p.Pro278His)	SNV Germline	Chr17:7673787	Conflicting classifications of pathogenicity	Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1 Adrenocortical carcinoma, hereditary	Criteria Provided Conflicting Classifications	CA16603063	rs_876659802	5 SubmittersRCV000633329 RCV001017582 RCV002289531 RCV004567903
NM_000546.6(TP53):c.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.644G>A (p.Ser215Asn)	SNV Germline	Chr17:7674887	Conflicting classifications of pathogenicity	Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Adrenocortical carcinoma, hereditary Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA16603077	rs_587782177	4 SubmittersRCV000816006 RCV000492171 RCV003476011 RCV004022241
NM_000546.6(TP53):c.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.658T>C (p.Tyr220His)	SNV Germline/somatic	Chr17:7674873	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Adrenocortical carcinoma, hereditary Ovarian neoplasm Li-Fraumeni syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA002135	rs_530941076	6 SubmittersRCV000566866 RCV001215103 RCV003476013 RCV000785254 RCV004022253
NM_000546.6(TP53):c.717C>G (p.Asn239Lys)	SNV Germline	Chr17:7674246	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Adrenocortical carcinoma, hereditary	Criteria Provided Conflicting Classifications	CA16607851	rs_1057522275	5 SubmittersRCV000431317 RCV000492173 RCV000529909 RCV003463830
NM_000546.6(TP53):c.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.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.399G>A (p.Met133Ile)	SNV Germline	Chr17:7675213	Conflicting classifications of pathogenicity	Condition: not provided Li-Fraumeni syndrome 1 Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Adrenocortical carcinoma, hereditary	Criteria Provided Conflicting Classifications	CA16620633	rs_1064795139	8 SubmittersRCV000484833 RCV000662907 RCV001052030 RCV002289639 RCV004568185
NM_000546.6(TP53):c.159G>A (p.Trp53Ter)	SNV Germline	Chr17:7676210	Pathogenic	Condition: not provided Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Li-Fraumeni syndrome 1 Adrenocortical carcinoma, hereditary	Criteria Provided Multiple Submitters No Conflicts	CA16620640	rs_1064794618	7 SubmittersRCV000480240 RCV001012297 RCV001236368 RCV002289632 RCV003464011
NM_000546.6(TP53):c.826G>C (p.Ala276Pro)	SNV Germline/somatic	Chr17:7673794	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Ovarian neoplasm Adrenocortical carcinoma, hereditary	Criteria Provided Conflicting Classifications	CA397836931	rs_1131691029	4 SubmittersRCV000492584 RCV000705570 RCV000785453 RCV004568619
NM_000546.6(TP53):c.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.478A>G (p.Met160Val)	SNV Germline	Chr17:7675134	Conflicting classifications of pathogenicity	Condition: not provided Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Adrenocortical carcinoma, hereditary	Criteria Provided Conflicting Classifications	CA397841976	rs_377274728	5 SubmittersRCV000513585 RCV001051011 RCV000570720 RCV004568658
NM_000546.6(TP53):c.476C>T (p.Ala159Val)	SNV Germline/somatic	Chr17:7675136	Pathogenic/Likely pathogenic	Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Neoplasm Condition: not provided Adrenocortical carcinoma, hereditary Li-Fraumeni syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA397842017	rs_1555526131	6 SubmittersRCV000527533 RCV002341276 RCV004669032 RCV001764539 RCV003476227 RCV004023788
NM_000546.6(TP53):c.835G>A (p.Gly279Arg)	SNV Germline	Chr17:7673785	Conflicting classifications of pathogenicity	Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1 Adrenocortical carcinoma, hereditary	Criteria Provided Conflicting Classifications	CA397836877	rs_1555525248	4 SubmittersRCV000547189 RCV000566142 RCV002267618 RCV003459203
NM_000546.6(TP53):c.917G>A (p.Arg306Gln)	SNV Germline	Chr17:7673703	Conflicting classifications of pathogenicity	Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Familial cancer of breast Squamous cell carcinoma of the head and neck Condition: not provided not specified Adrenocortical carcinoma, hereditary	Criteria Provided Conflicting Classifications	CA287486566	rs_1048095040	10 SubmittersRCV000527123 RCV000561902 RCV000664300 RCV000989706 RCV000986056 RCV003330753 RCV004568752
NM_000546.6(TP53):c.796G>A (p.Gly266Arg)	SNV Germline/somatic	Chr17:7673824	Pathogenic	Li-Fraumeni syndrome Ovarian neoplasm Li-Fraumeni syndrome 1 Condition: not provided Hereditary cancer-predisposing syndrome Neoplasm Adrenocortical carcinoma, hereditary	Criteria Provided Multiple Submitters No Conflicts	CA397837142	rs_1057519990	7 SubmittersRCV000528667 RCV000785497 RCV002289744 RCV004772959 RCV001027016 RCV004669033 RCV004568751
NM_000546.6(TP53):c.388C>G (p.Leu130Val)	SNV Germline	Chr17:7675224	Conflicting classifications of pathogenicity	Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Condition: not provided Li-Fraumeni syndrome 1 Adrenocortical carcinoma, hereditary	Criteria Provided Conflicting Classifications	CA287488714	rs_863224683	5 SubmittersRCV000536061 RCV000565366 RCV000759374 RCV002289731 RCV003459202
NM_000546.6(TP53):c.1104C>G (p.His368Gln)	SNV Germline	Chr17:7669687	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Li-Fraumeni syndrome 1 Adrenocortical carcinoma, hereditary	Criteria Provided Conflicting Classifications	CA397830872	rs_1289241865	4 SubmittersRCV000575539 RCV000798387 RCV002289832 RCV004569245
NM_000546.6(TP53):c.533A>C (p.His178Pro)	SNV Germline	Chr17:7675079	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Adrenocortical carcinoma, hereditary	Criteria Provided Conflicting Classifications	CA397841366	rs_1555526004	4 SubmittersRCV000562255 RCV001216080 RCV003476347
NM_000546.6(TP53):c.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.375G>C (p.Thr125=)	SNV Germline/somatic	Chr17:7675994	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Condition: not provided TP53-related disorder Li-Fraumeni syndrome Adrenocortical carcinoma, hereditary Li-Fraumeni syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA497926317	rs_55863639	6 SubmittersRCV000570944 RCV002508940 RCV003403351 RCV003509563 RCV003476320 RCV004024459
NM_000546.6(TP53):c.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.499C>T (p.Gln167Ter)	SNV Germline	Chr17:7675113	Pathogenic/Likely pathogenic	Li-Fraumeni syndrome Condition: not provided Li-Fraumeni syndrome 1 Hereditary cancer-predisposing syndrome Adrenocortical carcinoma, hereditary	Criteria Provided Multiple Submitters No Conflicts	CA397841811	rs_1555526097	9 SubmittersRCV000633353 RCV000657587 RCV000663165 RCV001023383 RCV003471978
NM_000546.6(TP53):c.378C>G (p.Tyr126Ter)	SNV Germline/somatic	Chr17:7675234	Pathogenic/Likely pathogenic	Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Gastric cancer Adrenocortical carcinoma, hereditary Adrenal cortex carcinoma Li-Fraumeni syndrome 1	Criteria Provided Multiple Submitters No Conflicts		rs_1567554500	6 SubmittersRCV000702157 RCV002343542 RCV003165877 RCV003472237 RCV003999725 RCV004026584
NM_000546.6(TP53):c.919+1G>A	SNV Germline/somatic	Chr17:7673700	Pathogenic	Li-Fraumeni syndrome 1 Li-Fraumeni syndrome Adrenocortical carcinoma, hereditary Condition: not provided Hereditary cancer-predisposing syndrome TP53-related disorder	Reviewed By Expert Panel		rs_1131691039	8 SubmittersRCV000782136 RCV000991150 RCV003992389 RCV001578272 RCV003307417 RCV004797621
NM_000546.6(TP53):c.808T>C (p.Phe270Leu)	SNV Germline/somatic	Chr17:7673812	Conflicting classifications of pathogenicity	Ovarian neoplasm Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Breast and/or ovarian cancer Li-Fraumeni syndrome 1 Adrenocortical carcinoma, hereditary	Criteria Provided Conflicting Classifications		rs_1057519988	6 SubmittersRCV000785520 RCV001321223 RCV002422673 RCV003492171 RCV004027353 RCV004569494
NM_000546.6(TP53):c.711G>T (p.Met237Ile)	SNV Germline/somatic	Chr17:7674252	Pathogenic/Likely pathogenic	Ovarian neoplasm Hereditary cancer-predisposing syndrome Adrenocortical carcinoma, hereditary Li-Fraumeni syndrome Malignant tumor of urinary bladder	Criteria Provided Multiple Submitters No Conflicts		rs_587782664	5 SubmittersRCV000785508 RCV002370058 RCV003472321 RCV003509608 RCV003332249
NM_000546.6(TP53):c.560-1G>A	SNV Germline/somatic	Chr17:7674972	Pathogenic	Ovarian neoplasm Hereditary cancer-predisposing syndrome Adrenocortical carcinoma, hereditary Neoplasm Condition: not provided Li-Fraumeni syndrome Li-Fraumeni syndrome 1	Criteria Provided Multiple Submitters No Conflicts		rs_1202793339	7 SubmittersRCV000785507 RCV001024314 RCV003472320 RCV004669111 RCV000786832 RCV002535728 RCV004027349
NM_000546.6(TP53):c.346T>G (p.Ser116Ala)	SNV Germline	Chr17:7676023	Conflicting classifications of pathogenicity	Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1 Condition: not provided Adrenocortical carcinoma, hereditary	Criteria Provided Conflicting Classifications		rs_989692988	5 SubmittersRCV000804275 RCV001020381 RCV002290445 RCV003478506 RCV004569609
NM_000546.6(TP53):c.97-11C>G	SNV Germline	Chr17:7676283	Pathogenic	Li-Fraumeni syndrome Adrenocortical carcinoma, hereditary	Criteria Provided Multiple Submitters No Conflicts		rs_769697802	2 SubmittersRCV000791519 RCV003472330
NM_000546.6(TP53):c.183T>A (p.Asp61Glu)	SNV Germline	Chr17:7676186	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1 Li-Fraumeni syndrome Adrenocortical carcinoma, hereditary	Criteria Provided Conflicting Classifications		rs_1597374797	4 SubmittersRCV001013317 RCV002290529 RCV001202193 RCV004569919
NM_000546.6(TP53):c.1048C>G (p.Leu350Val)	SNV Germline	Chr17:7670661	Conflicting classifications of pathogenicity	Li-Fraumeni syndrome Adrenocortical carcinoma, hereditary Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications		rs_768046010	5 SubmittersRCV001059236 RCV003462579 RCV002402425
NM_000546.6(TP53):c.272G>A (p.Trp91Ter)	SNV Germline	Chr17:7676097	Pathogenic/Likely pathogenic	Li-Fraumeni syndrome Adrenocortical carcinoma, hereditary	Criteria Provided Multiple Submitters No Conflicts		rs_2073465664	3 SubmittersRCV001258110 RCV003473842
NM_000546.6(TP53):c.993+2T>C	SNV Germline/somatic	Chr17:7673533	Pathogenic/Likely pathogenic	Condition: not provided Li-Fraumeni syndrome Adrenocortical carcinoma, hereditary	Criteria Provided Multiple Submitters No Conflicts		rs_1597359053	3 SubmittersRCV001553782 RCV003621596 RCV004571059
NM_000546.6(TP53):c.440T>A (p.Val147Asp)	SNV Germline	Chr17:7675172	Conflicting classifications of pathogenicity	Li-Fraumeni syndrome Adrenocortical carcinoma, hereditary Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications		rs_1453167097	3 SubmittersRCV002051460 RCV003464164 RCV004038887
NM_000546.6(TP53):c.406C>T (p.Gln136Ter)	SNV Germline	Chr17:7675206	Pathogenic	Li-Fraumeni syndrome Adrenocortical carcinoma, hereditary Li-Fraumeni syndrome 1	Criteria Provided Multiple Submitters No Conflicts			3 SubmittersRCV002569348 RCV003475387 RCV004067553
NM_000546.6(TP53):c.799C>G (p.Arg267Gly)	SNV Germline	Chr17:7673821	Pathogenic	Hereditary cancer-predisposing syndrome Adrenocortical carcinoma, hereditary	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV002419114 RCV003464488
NM_000546.6(TP53):c.251C>T (p.Ala84Val)	SNV Germline	Chr17:7676118	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Adrenocortical carcinoma, hereditary	Criteria Provided Conflicting Classifications			3 SubmittersRCV002433030 RCV004017935 RCV004571148
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			2 SubmittersRCV003177174 RCV004572869
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			2 SubmittersRCV004518764 RCV004573481

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

SNV
Germline/somatic

Chr17:7674221

Pathogenic

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

Reviewed By Expert Panel

CA000382

rs_121912651

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

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

SNV
Germline/somatic

Chr17:7674229

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA000371

rs_121912656

9 SubmittersRCV000013149 RCV000164465 RCV000206683 RCV000785472 RCV000986053 RCV003473082

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

SNV
Germline/somatic

Chr17:7674220

Pathogenic

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

Reviewed By Expert Panel

CA000387

rs_11540652

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

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

SNV
Germline/somatic

Chr17:7673776

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA000454

rs_28934574

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

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

SNV
Germline/somatic

Chr17:7674230

Pathogenic

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

Reviewed By Expert Panel

CA000367

rs_28934575

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

NM_000546.6(TP53):c.818G>A (p.Arg273His)

SNV
Germline/somatic

Chr17:7673802

Pathogenic

Li-Fraumeni syndrome 1
Thyroid gland undifferentiated (anaplastic) carcinoma
Hereditary cancer-predisposing syndrome
Condition: not provided
Squamous cell carcinoma of the head and neck
Lung adenocarcinoma
Neoplasm
Li-Fraumeni syndrome
Ovarian neoplasm
Rhabdomyosarcoma
Malignant tumor of breast
Multiple myeloma
Colorectal cancer
Familial cancer of breast
12 conditions
Gastric cancer
Breast and/or ovarian cancer
Adrenocortical carcinoma, hereditary
TP53-related disorder

Reviewed By Expert Panel

CA000434

rs_28934576

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

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

SNV
Germline/somatic

Chr17:7675161

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA000198

rs_28934874

8 SubmittersRCV000013168 RCV000130617 RCV000691152 RCV000520731 RCV001257524 RCV002288486 RCV004566739

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

SNV
Germline/somatic

Chr17:7675088

Pathogenic

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

Reviewed By Expert Panel

CA000251

rs_28934578

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

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

SNV
Germline/somatic

Chr17:7670678

Likely pathogenic

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

Reviewed By Expert Panel

CA000021

rs_121912662

6 SubmittersRCV000013174 RCV000991141 RCV002390102 RCV003996091 RCV003473083

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

SNV
Germline

Chr17:7670699

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA000013

rs_121912664

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

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

SNV
Germline

Chr17:7673766

Pathogenic

ADRENOCORTICAL CARCINOMA, PEDIATRIC
Choroid plexus carcinoma
Li-Fraumeni syndrome

Criteria Provided
Single Submitter

CA000463

rs_121912667

2 SubmittersRCV000013184 RCV000013185 RCV000813961

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

SNV
Germline/somatic

Chr17:7674945

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA000282

rs_397516435

20 SubmittersRCV000412710 RCV000131510 RCV000205265 RCV001527464 RCV004797592 RCV000785329 RCV002288535 RCV003473274

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

SNV
Germline/somatic

Chr17:7673803

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA000432

rs_121913343

23 SubmittersRCV000144665 RCV000131966 RCV000205625 RCV000149051 RCV000254692 RCV000431786 RCV000785470 RCV003466889 RCV004595896 RCV004745172

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

SNV
Germline

Chr17:7675146

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA000214

rs_563378859

12 SubmittersRCV000115721 RCV000213051 RCV000232885 RCV000409094 RCV000764146 RCV002465516 RCV003467058

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

SNV
Germline/somatic

Chr17:7675077

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA000256

rs_587780070

9 SubmittersRCV000115726 RCV003460828 RCV002288597 RCV004668781 RCV000555493 RCV000663095 RCV000785312

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

SNV
Germline

Chr17:7674927

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA000288

rs_587780072

12 SubmittersRCV000115729 RCV000473040 RCV000563913 RCV001257499 RCV004724809 RCV004567015

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

SNV
Germline/somatic

Chr17:7674872

Pathogenic

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

Reviewed By Expert Panel

CA000315

rs_121912666

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

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

SNV
Germline/somatic

Chr17:7674893

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA000302

rs_587778720

25 SubmittersRCV000122176 RCV000123099 RCV000144664 RCV000130072 RCV000420734 RCV000626448 RCV001255672 RCV001798386 RCV003460862 RCV004745203

NM_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.799C>T (p.Arg267Trp)

SNV
Germline/somatic

Chr17:7673821

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Li-Fraumeni syndrome
11 conditions
Lip and oral cavity carcinoma
Familial cancer of breast
Li-Fraumeni syndrome 1
Breast and/or ovarian cancer
Adrenocortical carcinoma, hereditary
TP53-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA000423

rs_55832599

19 SubmittersRCV000130398 RCV000413074 RCV000538977 RCV000763416 RCV001255676 RCV002247507 RCV002288637 RCV003149899 RCV003460927 RCV004797597

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

SNV
Germline

Chr17:7675139

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA000227

rs_587782144

26 SubmittersRCV000130708 RCV000255654 RCV000227859 RCV000496787 RCV001257522 RCV003461996 RCV003492603 RCV004796030 RCV004797598

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

SNV
Germline

Chr17:7670716

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA000528

rs_587782272

7 SubmittersRCV000131124 RCV000786811 RCV001380070 RCV002288645 RCV003992194

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

SNV
Germline/somatic

Chr17:7675070

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA000259

rs_397514495

24 SubmittersRCV000131382 RCV000168247 RCV000255239 RCV000576528 RCV000989718 RCV001391195 RCV001527471 RCV003462011 RCV004745211

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

SNV
Germline/somatic

Chr17:7670700

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA000010

rs_587782529

13 SubmittersRCV000131726 RCV000475086 RCV000785479 RCV001310211 RCV001781474 RCV003467184 RCV004668798

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

SNV
Germline

Chr17:7675071

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA000257

rs_587782596

7 SubmittersRCV000131943 RCV000168292 RCV000236276 RCV003474780 RCV004544301

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

SNV
Germline

Chr17:7675185

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA000176

rs_587782620

9 SubmittersRCV000132003 RCV000227179 RCV003474783 RCV000409072 RCV000413546 RCV001560552 RCV001354661

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

SNV
Germline/somatic

Chr17:7674252

Pathogenic

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

Reviewed By Expert Panel

CA000349

rs_587782664

11 SubmittersRCV000132084 RCV000464261 RCV000581940 RCV000785336 RCV001271055 RCV001567943 RCV003462031 RCV004668799 RCV001527088

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

SNV
Germline/somatic

Chr17:7675157

Pathogenic

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

Reviewed By Expert Panel

CA000204

rs_587782705

19 SubmittersRCV000132156 RCV000168122 RCV001255632 RCV004668801 RCV004797600 RCV000583667 RCV000677669 RCV000755703 RCV001270267 RCV003462034

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

SNV
Germline/somatic

Chr17:7675131

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA000234

rs_193920817

9 SubmittersRCV000149053 RCV000161027 RCV000214033 RCV000761073 RCV000785328 RCV000473543 RCV003474797

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

SNV
Germline/somatic

Chr17:7675994

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA000144

rs_55863639

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

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

SNV
Germline/somatic

Chr17:7670685

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA000019

rs_730882029

20 SubmittersRCV000161074 RCV000213069 RCV000549233 RCV000785301 RCV001374440 RCV001554321 RCV002288707 RCV002492644 RCV003474838 RCV004797601

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

SNV
Germline

Chr17:7674235

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA000365

rs_730882006

4 SubmittersRCV000161035 RCV000222280 RCV000686581 RCV003462110

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

SNV
Germline/somatic

Chr17:7674250

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA000351

rs_730882005

12 SubmittersRCV000161034 RCV000167907 RCV000785261 RCV000235220 RCV002288693 RCV004794368 RCV001374444 RCV003462109 RCV004668817

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

SNV
Germline/somatic

Chr17:7674885

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA000308

rs_730882025

14 SubmittersRCV000161067 RCV000168150 RCV000561534 RCV000583984 RCV000663213 RCV000785523 RCV003474837 RCV004668819

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

SNV
Germline

Chr17:7674956

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA000273

rs_730882002

5 SubmittersRCV000161029 RCV001024490 RCV001371035 RCV002288689 RCV003462108

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

SNV
Germline/somatic

Chr17:7675232

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA000148

rs_730881999

9 SubmittersRCV000161024 RCV000606528 RCV000785332 RCV000633384 RCV003162681 RCV003474836 RCV004019945

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

SNV
Germline

Chr17:7673790

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA000438

rs_763098116

8 SubmittersRCV000165199 RCV000456858 RCV003474865 RCV000254809 RCV001357202

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

SNV
Germline/somatic

Chr17:7674953

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA000274

rs_786201838

9 SubmittersRCV000164329 RCV000255425 RCV000429618 RCV000460847 RCV000785346 RCV002288732 RCV003474857

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

SNV
Germline/somatic

Chr17:7675085

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA000254

rs_786202962

9 SubmittersRCV000166045 RCV000461158 RCV000255616 RCV003995473 RCV001354219 RCV002288754 RCV003128588 RCV003407616 RCV003474872

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

SNV
Germline/somatic

Chr17:7675199

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA000168

rs_750600586

5 SubmittersRCV000164195 RCV000813957 RCV003474852 RCV004019963 RCV003995323

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

SNV
Germline/somatic

Chr17:7675995

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA000140

rs_786201057

18 SubmittersRCV000162461 RCV000237013 RCV000457119 RCV000576336 RCV003462117 RCV004668821 RCV004797602

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

SNV
Germline/somatic

Chr17:7673796

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA337141

rs_863224451

13 SubmittersRCV000197359 RCV000235315 RCV000568594 RCV001610519 RCV003320135 RCV000785533 RCV004668842 RCV003468892 RCV002288809

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

SNV
Germline/somatic

Chr17:7674858

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA339249

rs_863224499

9 SubmittersRCV000200333 RCV000786828 RCV002288813 RCV002288814 RCV004668847 RCV003474954

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

SNV
Germline/somatic

Chr17:7674947

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA002232

rs_760043106

13 SubmittersRCV000421097 RCV000487386 RCV000198789 RCV000785324 RCV001024600 RCV001271054 RCV003474953 RCV002288812 RCV004668846 RCV004725053

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

SNV
Germline

Chr17:7674220

Pathogenic

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

Reviewed By Expert Panel

CA10580924

rs_11540652

6 SubmittersRCV000219834 RCV000991149 RCV003475005 RCV004020650

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

SNV
Germline

Chr17:7674248

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10580926

rs_876660807

7 SubmittersRCV000223044 RCV000560536 RCV001355898 RCV003475037 RCV004020697 RCV003137828

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

SNV
Germline

Chr17:7676040

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA10580948

rs_11540654

6 SubmittersRCV000231991 RCV000222678 RCV002288889 RCV004698486 RCV003462528

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

SNV
Germline

Chr17:7673775

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10575441

rs_730882008

13 SubmittersRCV000226273 RCV000235474 RCV000492420 RCV000709768 RCV000767028 RCV003463657 RCV003483584 RCV001357626

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

SNV
Unknown

Chr17:7673778

Likely pathogenic

Adrenocortical carcinoma, hereditary

Criteria Provided
Single Submitter

CA16603011

rs_587781525

1 SubmittersRCV003463826

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

SNV
Germline

Chr17:7673811

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA16603019

rs_1057519986

5 SubmittersRCV003470375 RCV002508212 RCV001805037 RCV002524696 RCV004022213

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

SNV
Germline/somatic

Chr17:7674233

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA16603022

rs_1057519989

9 SubmittersRCV000492366 RCV000633372 RCV001257520 RCV002289524 RCV003168616 RCV003332172 RCV003476007 RCV004668954

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

SNV
Germline/somatic

Chr17:7674229

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA001743

rs_121912656

6 SubmittersRCV003476008 RCV000558455 RCV001026313 RCV001548147 RCV004668955 RCV002289525

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

SNV
Germline

Chr17:7675076

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA16603029

rs_1057519991

5 SubmittersRCV002348143 RCV000705316 RCV003476009 RCV004721352 RCV004022217

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

SNV
Germline

Chr17:7675077

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA16603031

rs_587780070

5 SubmittersRCV002465649 RCV003335320 RCV002348144 RCV003470376 RCV001851020

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

SNV
Germline

Chr17:7673787

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA16603063

rs_876659802

5 SubmittersRCV000633329 RCV001017582 RCV002289531 RCV004567903

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

SNV
Germline

Chr17:7674887

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA16603077

rs_587782177

4 SubmittersRCV000816006 RCV000492171 RCV003476011 RCV004022241

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

SNV
Germline/somatic

Chr17:7674873

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA002135

rs_530941076

6 SubmittersRCV000566866 RCV001215103 RCV003476013 RCV000785254 RCV004022253

NM_000546.6(TP53):c.717C>G (p.Asn239Lys)

SNV
Germline

Chr17:7674246

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA16607851

rs_1057522275

5 SubmittersRCV000431317 RCV000492173 RCV000529909 RCV003463830

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

SNV
Germline

Chr17:7675213

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA16620633

rs_1064795139

8 SubmittersRCV000484833 RCV000662907 RCV001052030 RCV002289639 RCV004568185

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

SNV
Germline

Chr17:7676210

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA16620640

rs_1064794618

7 SubmittersRCV000480240 RCV001012297 RCV001236368 RCV002289632 RCV003464011

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

SNV
Germline/somatic

Chr17:7673794

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA397836931

rs_1131691029

4 SubmittersRCV000492584 RCV000705570 RCV000785453 RCV004568619

NM_000546.6(TP53):c.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.478A>G (p.Met160Val)

SNV
Germline

Chr17:7675134

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA397841976

rs_377274728

5 SubmittersRCV000513585 RCV001051011 RCV000570720 RCV004568658

NM_000546.6(TP53):c.476C>T (p.Ala159Val)

SNV
Germline/somatic

Chr17:7675136

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA397842017

rs_1555526131

6 SubmittersRCV000527533 RCV002341276 RCV004669032 RCV001764539 RCV003476227 RCV004023788

NM_000546.6(TP53):c.835G>A (p.Gly279Arg)

SNV
Germline

Chr17:7673785

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA397836877

rs_1555525248

4 SubmittersRCV000547189 RCV000566142 RCV002267618 RCV003459203

NM_000546.6(TP53):c.917G>A (p.Arg306Gln)

SNV
Germline

Chr17:7673703

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA287486566

rs_1048095040

10 SubmittersRCV000527123 RCV000561902 RCV000664300 RCV000989706 RCV000986056 RCV003330753 RCV004568752

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

SNV
Germline/somatic

Chr17:7673824

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA397837142

rs_1057519990

7 SubmittersRCV000528667 RCV000785497 RCV002289744 RCV004772959 RCV001027016 RCV004669033 RCV004568751

NM_000546.6(TP53):c.388C>G (p.Leu130Val)

SNV
Germline

Chr17:7675224

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA287488714

rs_863224683

5 SubmittersRCV000536061 RCV000565366 RCV000759374 RCV002289731 RCV003459202

NM_000546.6(TP53):c.1104C>G (p.His368Gln)

SNV
Germline

Chr17:7669687

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA397830872

rs_1289241865

4 SubmittersRCV000575539 RCV000798387 RCV002289832 RCV004569245

NM_000546.6(TP53):c.533A>C (p.His178Pro)

SNV
Germline

Chr17:7675079

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA397841366

rs_1555526004

4 SubmittersRCV000562255 RCV001216080 RCV003476347

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

SNV
Germline/somatic

Chr17:7675994

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA497926317

rs_55863639

6 SubmittersRCV000570944 RCV002508940 RCV003403351 RCV003509563 RCV003476320 RCV004024459

NM_000546.6(TP53):c.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.499C>T (p.Gln167Ter)

SNV
Germline

Chr17:7675113

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA397841811

rs_1555526097

9 SubmittersRCV000633353 RCV000657587 RCV000663165 RCV001023383 RCV003471978

NM_000546.6(TP53):c.378C>G (p.Tyr126Ter)

SNV
Germline/somatic

Chr17:7675234

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_1567554500

6 SubmittersRCV000702157 RCV002343542 RCV003165877 RCV003472237 RCV003999725 RCV004026584

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

SNV
Germline/somatic

Chr17:7673700

Pathogenic

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

Reviewed By Expert Panel

rs_1131691039

8 SubmittersRCV000782136 RCV000991150 RCV003992389 RCV001578272 RCV003307417 RCV004797621

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

SNV
Germline/somatic

Chr17:7673812

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_1057519988

6 SubmittersRCV000785520 RCV001321223 RCV002422673 RCV003492171 RCV004027353 RCV004569494

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

SNV
Germline/somatic

Chr17:7674252

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_587782664

5 SubmittersRCV000785508 RCV002370058 RCV003472321 RCV003509608 RCV003332249

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

SNV
Germline/somatic

Chr17:7674972

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_1202793339

7 SubmittersRCV000785507 RCV001024314 RCV003472320 RCV004669111 RCV000786832 RCV002535728 RCV004027349

NM_000546.6(TP53):c.346T>G (p.Ser116Ala)

SNV
Germline

Chr17:7676023

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_989692988

5 SubmittersRCV000804275 RCV001020381 RCV002290445 RCV003478506 RCV004569609

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

SNV
Germline

Chr17:7676283

Pathogenic

Li-Fraumeni syndrome
Adrenocortical carcinoma, hereditary

Criteria Provided
Multiple Submitters
No Conflicts

rs_769697802

2 SubmittersRCV000791519 RCV003472330

NM_000546.6(TP53):c.183T>A (p.Asp61Glu)

SNV
Germline

Chr17:7676186

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_1597374797

4 SubmittersRCV001013317 RCV002290529 RCV001202193 RCV004569919

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

SNV
Germline

Chr17:7670661

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_768046010

5 SubmittersRCV001059236 RCV003462579 RCV002402425

NM_000546.6(TP53):c.272G>A (p.Trp91Ter)

SNV
Germline

Chr17:7676097

Pathogenic/Likely pathogenic

Li-Fraumeni syndrome
Adrenocortical carcinoma, hereditary

Criteria Provided
Multiple Submitters
No Conflicts

rs_2073465664

3 SubmittersRCV001258110 RCV003473842

NM_000546.6(TP53):c.993+2T>C

SNV
Germline/somatic

Chr17:7673533

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_1597359053

3 SubmittersRCV001553782 RCV003621596 RCV004571059

NM_000546.6(TP53):c.440T>A (p.Val147Asp)

SNV
Germline

Chr17:7675172

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Adrenocortical carcinoma, hereditary
Li-Fraumeni syndrome 1

Criteria Provided
Conflicting Classifications

rs_1453167097

3 SubmittersRCV002051460 RCV003464164 RCV004038887

NM_000546.6(TP53):c.406C>T (p.Gln136Ter)

SNV
Germline

Chr17:7675206

Pathogenic

Li-Fraumeni syndrome
Adrenocortical carcinoma, hereditary
Li-Fraumeni syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV002569348 RCV003475387 RCV004067553

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

SNV
Germline

Chr17:7673821

Pathogenic

Hereditary cancer-predisposing syndrome
Adrenocortical carcinoma, hereditary

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002419114 RCV003464488

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

SNV
Germline

Chr17:7676118

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

3 SubmittersRCV002433030 RCV004017935 RCV004571148

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

2 SubmittersRCV003177174 RCV004572869

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

2 SubmittersRCV004518764 RCV004573481