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 TP53-related disorder Familial pancreatic carcinoma Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype Colorectal cancer Breast phyllodes tumor Medulloblastoma SHH activated and TP53 mutant Diffuse glioma, H3 G34 mutant	Reviewed By Expert Panel	CA000382	rs_121912651	38 SubmittersRCV000013140 RCV000115735 RCV000168242 RCV000213057 RCV000438698 RCV000785485 RCV001255674 RCV001271100 RCV001374442 RCV003149569 RCV003105772 RCV003162243 RCV003318332 RCV003460463 RCV004745154 RCV005357116 RCV006253466 RCV006250157 RCV006253469 RCV006253467 RCV006253468
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 Embryonal rhabdomyosarcoma Astrocytoma IDH-mutant Diffuse midline glioma, H3 K27M-mutant	Criteria Provided Multiple Submitters No Conflicts	CA000371	rs_121912656	12 SubmittersRCV000013149 RCV000164465 RCV000206683 RCV000785472 RCV000986053 RCV003473082 RCV006253471 RCV006253472 RCV006253473
NM_000546.6(TP53):c.743G>A (p.Arg248Gln)	SNV Germline/somatic	Chr17:7674220	Pathogenic	Li-Fraumeni syndrome 1 Hereditary cancer-predisposing syndrome Sarcoma Condition: not provided Multiple myeloma Li-Fraumeni syndrome 11 conditions Lymphoma Ovarian neoplasm Neoplasm Lip and oral cavity carcinoma Rhabdomyosarcoma Ductal carcinoma in situ Gastric cancer Malignant tumor of urinary bladder Adrenocortical carcinoma, hereditary TP53-related disorder Hereditary breast ovarian cancer syndrome Familial cancer of breast Colorectal cancer Breast carcinoma 12 conditions Medulloblastoma WNT activated Adenocarcinoma of the large intestine Embryonal tumor with multilayered rosettes Nasopharyngeal carcinoma Anaplastic/large cell medulloblastoma Adrenal cortex carcinoma Embryonal rhabdomyosarcoma Diffuse midline glioma, H3 K27M-mutant	Reviewed By Expert Panel	CA000387	rs_11540652	46 SubmittersRCV000013150 RCV000115736 RCV000148913 RCV000235221 RCV000424869 RCV000197114 RCV000763417 RCV000790860 RCV000785344 RCV000426606 RCV001255671 RCV001257519 RCV001527465 RCV003162244 RCV003332079 RCV003466852 RCV004745155 RCV004794335 RCV001270275 RCV004813032 RCV001554245 RCV005016259 RCV006253477 RCV006253478 RCV006253479 RCV006253474 RCV006454632 RCV003996090 RCV006253475 RCV006253476
NM_000546.6(TP53):c.844C>T (p.Arg282Trp)	SNV Germline/somatic	Chr17:7673776	Pathogenic/Likely pathogenic	Li-fraumeni-like syndrome Li-Fraumeni syndrome Li-Fraumeni syndrome 1 Hereditary cancer-predisposing syndrome Condition: not provided 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 Adrenocortical carcinoma, hereditary Melanoma Low grade glioma Astrocytoma IDH-mutant Diffuse midline glioma, H3 K27M-mutant Medulloblastoma WNT activated Diffuse glioma, H3 G34 mutant Signet ring cell carcinoma Neoplasm TP53-related disorder Juvenile type testicular granulosa cell tumor Rhabdomyosarcoma	Criteria Provided Multiple Submitters No Conflicts	CA000454	rs_28934574	38 SubmittersRCV000013161 RCV000148905 RCV000144670 RCV000210145 RCV000236400 RCV000441472 RCV000722016 RCV000785546 RCV001270278 RCV003315223 RCV004566738 RCV006253485 RCV006253486 RCV006253487 RCV006253488 RCV006253489 RCV006253490 RCV006253492 RCV004668718 RCV004797589 RCV006253491 RCV006253484
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 Malignant tumor of urinary bladder Adrenocortical carcinoma, hereditary 12 conditions TP53-related disorder Gastric cancer See cases IDH-wildtype glioblastoma Neoplasm Medulloblastoma WNT activated Rhabdomyosarcoma	Reviewed By Expert Panel	CA000367	rs_28934575	36 SubmittersRCV000013162 RCV000148909 RCV000154014 RCV000130147 RCV000144669 RCV000226657 RCV000587017 RCV000588736 RCV000785316 RCV001270274 RCV001354825 RCV001642222 RCV003332080 RCV003460464 RCV002496337 RCV003914832 RCV003162245 RCV004797759 RCV006253495 RCV006273052 RCV006253494 RCV006253493
NM_000546.6(TP53):c.818G>A (p.Arg273His)	SNV Germline/somatic	Chr17:7673802	Pathogenic	Li-Fraumeni syndrome 1 Thyroid gland undifferentiated (anaplastic) carcinoma Hereditary cancer-predisposing syndrome Condition: not provided Squamous cell carcinoma of the head and neck Li-Fraumeni syndrome Lung adenocarcinoma Neoplasm Ovarian neoplasm Rhabdomyosarcoma Malignant tumor of breast Familial cancer of breast Multiple myeloma Colorectal cancer Adrenocortical carcinoma, hereditary Breast and/or ovarian cancer Gastric cancer 12 conditions TP53-related disorder Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype Diffuse midline glioma, H3 K27M-mutant Desmoplastic small round cell tumor Ewing sarcoma	Reviewed By Expert Panel	CA000434	rs_28934576	40 SubmittersRCV000013163 RCV000013164 RCV000115738 RCV000254693 RCV000422097 RCV000463420 RCV000431361 RCV000441169 RCV000785345 RCV001257517 RCV001358389 RCV001527484 RCV001527470 RCV003466853 RCV003492292 RCV003162246 RCV005003353 RCV004797590 RCV006253498 RCV006253499 RCV006253497 RCV006253496
NM_000546.6(TP53):c.451C>A (p.Pro151Thr)	SNV Germline/somatic	Chr17:7675161	Pathogenic/Likely pathogenic	Breast adenocarcinoma Hereditary cancer-predisposing syndrome Condition: not provided Li-Fraumeni syndrome Rhabdomyosarcoma Li-Fraumeni syndrome 1 Adrenocortical carcinoma, hereditary	Criteria Provided Multiple Submitters No Conflicts	CA000198	rs_28934874	8 SubmittersRCV000013168 RCV000130617 RCV000520731 RCV000691152 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 Li-Fraumeni syndrome Condition: not provided Neoplasm Malignant tumor of esophagus Colorectal cancer Ovarian neoplasm Gastric cancer 12 conditions Adrenocortical carcinoma, hereditary Lip and oral cavity carcinoma Squamous cell carcinoma of the head and neck TP53-related disorder Familial cancer of breast Astrocytoma IDH-mutant Diffuse midline glioma, H3 K27M-mutant Medulloblastoma SHH activated and TP53 mutant Undifferentiated embryonal sarcoma of the liver Neuroblastoma IDH-wildtype glioblastoma Small intestine adenocarcinoma	Reviewed By Expert Panel	CA000251	rs_28934578	35 SubmittersRCV000013173 RCV000131301 RCV000204931 RCV000213054 RCV000421746 RCV000239398 RCV001270269 RCV000785352 RCV003162247 RCV002476956 RCV003466854 RCV001255668 RCV001270268 RCV004797760 RCV001527463 RCV006253502 RCV006253503 RCV006253504 RCV006253506 RCV006253501 RCV006253505 RCV006253507
NM_000546.6(TP53):c.1031T>C (p.Leu344Pro)	SNV Germline/somatic	Chr17:7670678	Likely pathogenic	Li-Fraumeni syndrome 1 Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Adrenocortical carcinoma, hereditary Adrenal cortex carcinoma	Reviewed By Expert Panel	CA000021	rs_121912662	7 SubmittersRCV000013174 RCV000991141 RCV002390102 RCV003473083 RCV003996091
NM_000546.6(TP53):c.1010G>A (p.Arg337His)	SNV Germline/somatic	Chr17:7670699	Pathogenic/Likely pathogenic/Pathogenic, low penetrance	ADRENOCORTICAL CARCINOMA, PEDIATRIC Li-Fraumeni syndrome Condition: not provided Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1 Breast neoplasm Squamous cell carcinoma of the head and neck Adrenocortical carcinoma, hereditary Gastric cancer Neuroblastoma Ovarian cancer Hereditary breast ovarian cancer syndrome 12 conditions TP53-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA000013	rs_121912664	28 SubmittersRCV000013178 RCV000197240 RCV000481814 RCV000128923 RCV000576817 RCV000413754 RCV000989700 RCV001375632 RCV003162248 RCV006253508 RCV006555321 RCV002307364 RCV002496338 RCV004797591
NM_000546.6(TP53):c.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_000282.4(PCCA):c.1651G>T (p.Val551Phe)	SNV Germline	Chr13:100368479	Conflicting classifications of pathogenicity	Propionic acidemia not specified Condition: not provided Thyroid cancer, nonmedullary, 1 Melanoma Hepatocellular carcinoma Malignant tumor of esophagus Ovarian serous cystadenocarcinoma Thymoma Nonpapillary renal cell carcinoma Lung cancer Clear cell carcinoma of kidney Uveal melanoma Colorectal cancer Gastric cancer Uterine carcinosarcoma Adrenocortical carcinoma, hereditary Cervical cancer	Criteria Provided Conflicting Classifications	CA292687	rs_61749895	11 SubmittersRCV000032108 RCV000127322 RCV002262596 RCV005888856 RCV005888857 RCV005888844 RCV005888845 RCV005888853 RCV005888855 RCV005888846 RCV005888858 RCV005888849 RCV005888850 RCV005888851 RCV005888852 RCV005888854 RCV005888847 RCV005888848
NM_000492.4(CFTR):c.1584G>A (p.Glu528=)	SNV Germline	Chr7:117559655	Conflicting classifications of pathogenicity	not specified Hereditary pancreatitis Cystic fibrosis Condition: not provided Pancreatitis CFTR-related disorder Congenital bilateral aplasia of vas deferens from CFTR mutation Bronchiectasis with or without elevated sweat chloride 1 Uterine corpus endometrial carcinoma Familial pancreatic carcinoma Colon adenocarcinoma Colorectal cancer Lymphoma Adrenocortical carcinoma, hereditary Cervical cancer Thymoma Thyroid cancer, nonmedullary, 1 Cholangiocarcinoma Malignant tumor of esophagus Nonpapillary renal cell carcinoma Gastric cancer Ovarian serous cystadenocarcinoma Lung cancer	Criteria Provided Conflicting Classifications	CA132749	rs_1800095	23 SubmittersRCV000036518 RCV000119037 RCV000231696 RCV000422767 RCV000844954 RCV001027903 RCV001588847 RCV005416110 RCV005889012 RCV005889003 RCV005888998 RCV005889004 RCV005889006 RCV005889001 RCV005889002 RCV005889008 RCV005889009 RCV005889010 RCV005888999 RCV005889000 RCV005889005 RCV005889007 RCV005889011
NM_000546.6(TP53):c.586C>T (p.Arg196Ter)	SNV Germline/somatic	Chr17:7674945	Pathogenic	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Condition: not provided Ovarian neoplasm not specified Li-Fraumeni syndrome 1 Adrenocortical carcinoma, hereditary TP53-related disorder Neoplasm Spindle cell sarcoma Familial cancer of breast Li-Fraumeni syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA000282	rs_397516435	23 SubmittersRCV000131510 RCV000205265 RCV000412710 RCV000785329 RCV001527464 RCV002288535 RCV003473274 RCV004797592 RCV006273074 RCV006253728 RCV005357264
NM_000546.6(TP53):c.817C>T (p.Arg273Cys)	SNV Germline/somatic	Chr17:7673803	Pathogenic/Likely pathogenic	Li-Fraumeni syndrome 1 Prostate cancer Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Condition: not provided Neoplasm Ovarian neoplasm Multiple myeloma Adrenocortical carcinoma, hereditary Embryonal rhabdomyosarcoma Neuroblastoma Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype Astrocytoma IDH-mutant TP53-related disorder Adenocarcinoma of the large intestine Diffuse midline glioma, H3 K27M-mutant Medulloblastoma WNT activated Primary intracranial sarcoma, DICER1-mutant	Criteria Provided Multiple Submitters No Conflicts	CA000432	rs_121913343	28 SubmittersRCV000144665 RCV000149051 RCV000131966 RCV000205625 RCV000254692 RCV000431786 RCV000785470 RCV004595896 RCV003466889 RCV006253731 RCV006253730 RCV006253732 RCV006253733 RCV004745172 RCV006253737 RCV006253734 RCV006253736 RCV006253735
NM_015375.3(DSTYK):c.654+1G>A	SNV Germline	Chr1:205187417	Conflicting classifications of pathogenicity	Congenital anomalies of kidney and urinary tract 1 Condition: not provided DSTYK-related disorder Hereditary spastic paraplegia 23 Chronic lymphocytic leukemia/small lymphocytic lymphoma Adrenocortical carcinoma, hereditary	Criteria Provided Conflicting Classifications	CA1353006	rs_201091809	6 SubmittersRCV000054497 RCV001853078 RCV003905015 RCV003387748 RCV005890367 RCV005890366
NM_000535.7(PMS2):c.2174+1G>A	SNV Germline	Chr7:5982823	Pathogenic	Lynch syndrome Condition: not provided Hereditary cancer-predisposing syndrome Lynch syndrome 4 Hereditary nonpolyposis colorectal neoplasms Breast and/or ovarian cancer PMS2-related disorder Mismatch repair cancer syndrome 4 Lynch syndrome 4 Mismatch repair cancer syndrome 4 Colon adenocarcinoma Adrenocortical carcinoma, hereditary	Reviewed By Expert Panel	CA010965	rs_267608172	20 SubmittersRCV000076844 RCV000115677 RCV000218995 RCV000409361 RCV000539044 RCV003149757 RCV004742244 RCV005031560 RCV005357499 RCV005886124 RCV005886125
NM_006343.3(MERTK):c.60A>T (p.Arg20Ser)	SNV Germline	Chr2:111898795	Conflicting classifications of pathogenicity	not specified Condition: not provided Retinitis pigmentosa Retinitis pigmentosa 38 Familial pancreatic carcinoma Lymphoma Adrenocortical carcinoma, hereditary Ovarian cancer Chronic lymphocytic leukemia/small lymphocytic lymphoma Sarcoma Nonpapillary renal cell carcinoma Cervical cancer Uterine carcinosarcoma Thymoma Thyroid cancer, nonmedullary, 1 Acute myeloid leukemia Malignant tumor of esophagus	Criteria Provided Conflicting Classifications	CA148491	rs_35898499	7 SubmittersRCV000081391 RCV000086964 RCV000358600 RCV003389454 RCV005886513 RCV005886515 RCV005886510 RCV005886512 RCV005886519 RCV005886514 RCV005886509 RCV005886511 RCV005886516 RCV005886517 RCV005886518 RCV005886507 RCV005886508
NM_000546.6(TP53):c.466C>T (p.Arg156Cys)	SNV Germline/somatic	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 High-grade astrocytoma with piloid features	Criteria Provided Conflicting Classifications	CA000214	rs_563378859	14 SubmittersRCV000115721 RCV000213051 RCV000232885 RCV000409094 RCV000764146 RCV002465516 RCV003467058 RCV005016392 RCV006253798
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 Hereditary cancer-predisposing syndrome Neoplasm Adrenocortical carcinoma, hereditary Diffuse midline glioma, H3 K27M-mutant Primary intracranial sarcoma, DICER1-mutant	Criteria Provided Multiple Submitters No Conflicts	CA000256	rs_587780070	12 SubmittersRCV000115726 RCV000555493 RCV000663095 RCV000785312 RCV002288597 RCV004668781 RCV003460828 RCV006253800 RCV006253801
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 12 conditions	Criteria Provided Conflicting Classifications	CA000288	rs_587780072	13 SubmittersRCV000115729 RCV000473040 RCV000563913 RCV001257499 RCV004724809 RCV004567015 RCV005016394
NM_000546.6(TP53):c.659A>G (p.Tyr220Cys)	SNV Germline/somatic	Chr17:7674872	Pathogenic	Hereditary cancer-predisposing syndrome Condition: not provided Li-Fraumeni syndrome Squamous cell carcinoma of the head and neck Ovarian neoplasm Li-Fraumeni syndrome 1 Breast carcinoma B-cell chronic lymphocytic leukemia 12 conditions Gastric cancer TP53-related disorder Adrenocortical carcinoma, hereditary Adrenal cortex carcinoma Neoplasm Pancreatic adenocarcinoma Colon adenocarcinoma Sarcoma Glioma susceptibility 1 Squamous cell lung carcinoma Malignant tumor of esophagus Malignant tumor of urinary bladder Lung cancer Familial cancer of breast Embryonal rhabdomyosarcoma Diffuse midline glioma, H3 K27M-mutant Adenocarcinoma of the large intestine Ovarian mucinous adenocarcinoma Astrocytoma IDH-mutant	Reviewed By Expert Panel	CA000315	rs_121912666	31 SubmittersRCV000115731 RCV000213055 RCV000232050 RCV000433936 RCV000785544 RCV001310212 RCV001579295 RCV001527468 RCV002490776 RCV003162539 RCV003407499 RCV003460829 RCV003997298 RCV004668782 RCV005887917 RCV005887912 RCV005887918 RCV005887913 RCV005887914 RCV005887916 RCV005887915 RCV005887919 RCV005887911 RCV006253802 RCV006253804 RCV006253805 RCV006253806 RCV006253803
NM_000546.6(TP53):c.800G>A (p.Arg267Gln)	SNV Germline/somatic	Chr17:7673820	Likely pathogenic	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Condition: not provided Li-Fraumeni syndrome 1 not specified Malignant tumor of breast Adrenocortical carcinoma, hereditary Neoplasm	Reviewed By Expert Panel	CA000424	rs_587780075	15 SubmittersRCV000115737 RCV000205433 RCV000213058 RCV000662441 RCV001358724 RCV001358329 RCV004567016 RCV006273522
NM_000546.6(TP53):c.638G>A (p.Arg213Gln)	SNV Germline/somatic	Chr17:7674893	Pathogenic/Likely pathogenic	not specified Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1 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 Adrenal cortex carcinoma Embryonal rhabdomyosarcoma Neoplasm	Criteria Provided Multiple Submitters No Conflicts	CA000302	rs_587778720	27 SubmittersRCV000122176 RCV000123099 RCV000130072 RCV000144664 RCV000420734 RCV000626448 RCV001255672 RCV001798386 RCV003460862 RCV004745203 RCV006253810 RCV006253811 RCV006273527
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 Familial cancer of breast Li-Fraumeni syndrome 1 Neoplasm Medulloblastoma WNT activated	Criteria Provided Multiple Submitters No Conflicts	CA000423	rs_55832599	24 SubmittersRCV000130398 RCV000413074 RCV000538977 RCV000763416 RCV001255676 RCV002247507 RCV002288637 RCV003149899 RCV003460927 RCV004797597 RCV005359236 RCV006273546 RCV006253814
NM_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/somatic	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 Adrenocortical carcinoma, hereditary TP53-related disorder 12 conditions Neoplasm	Criteria Provided Multiple Submitters No Conflicts	CA000227	rs_587782144	31 SubmittersRCV000130708 RCV000227859 RCV000255654 RCV000496787 RCV001257522 RCV003492603 RCV003461996 RCV004797598 RCV004796030 RCV006273548
NM_000546.6(TP53):c.994-1G>A	SNV Germline	Chr17:7670716	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Condition: not provided Li-Fraumeni syndrome Li-Fraumeni syndrome 1 Adrenocortical carcinoma, hereditary Colon adenocarcinoma Ovarian serous cystadenocarcinoma Familial cancer of breast	Criteria Provided Multiple Submitters No Conflicts	CA000528	rs_587782272	8 SubmittersRCV000131124 RCV000786811 RCV001380070 RCV002288645 RCV003992194 RCV005886926 RCV005886927 RCV005886925
NM_000546.6(TP53):c.542G>A (p.Arg181His)	SNV Germline/somatic	Chr17:7675070	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Condition: not provided Li-Fraumeni syndrome 1 Squamous cell carcinoma of the head and neck Carcinoma of pancreas Familial cancer of breast Adrenocortical carcinoma, hereditary Hereditary breast ovarian cancer syndrome TP53-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA000259	rs_397514495	28 SubmittersRCV000131382 RCV000168247 RCV000255239 RCV000576528 RCV000989718 RCV001391195 RCV001527471 RCV003462011 RCV005089647 RCV004745211
NM_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.541C>T (p.Arg181Cys)	SNV Germline/somatic	Chr17:7675071	Likely pathogenic	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Condition: not provided Adrenocortical carcinoma, hereditary Familial cancer of breast Colorectal cancer Neoplasm Li-Fraumeni syndrome 1	Reviewed By Expert Panel	CA000257	rs_587782596	12 SubmittersRCV000131943 RCV000168292 RCV000236276 RCV003474780 RCV004544301 RCV006253818 RCV005229969 RCV006633898
NM_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.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 Li-Fraumeni syndrome 1 Condition: not provided Adrenocortical carcinoma, hereditary Neoplasm Clear cell sarcoma	Reviewed By Expert Panel	CA000349	rs_587782664	15 SubmittersRCV000132084 RCV000464261 RCV000581940 RCV000785336 RCV001271055 RCV001527088 RCV001567943 RCV003462031 RCV004668799 RCV006253819
NM_000546.6(TP53):c.455C>T (p.Pro152Leu)	SNV Germline/somatic	Chr17:7675157	Pathogenic	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Condition: not provided Li-Fraumeni syndrome 1 Familial cancer of breast Squamous cell carcinoma of the head and neck Lip and oral cavity carcinoma Adrenocortical carcinoma, hereditary Neoplasm TP53-related disorder Diffuse glioma, H3 G34 mutant	Reviewed By Expert Panel	CA000204	rs_587782705	21 SubmittersRCV000132156 RCV000168122 RCV000583667 RCV000677669 RCV000755703 RCV001270267 RCV001255632 RCV003462034 RCV004668801 RCV004797600 RCV006253820
NM_133433.4(NIPBL):c.64+1G>A	SNV Germline	Chr5:36953761	Pathogenic	Cornelia de Lange syndrome 1 Adrenocortical carcinoma, hereditary	Criteria Provided Multiple Submitters No Conflicts	CA333508	rs_587784009	6 SubmittersRCV000146685 RCV005888171
NM_000546.6(TP53):c.481G>A (p.Ala161Thr)	SNV Germline/somatic	Chr17:7675131	Pathogenic/Likely pathogenic	Prostate cancer Condition: not provided Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Li-Fraumeni syndrome 1 Ovarian neoplasm Adrenocortical carcinoma, hereditary	Criteria Provided Multiple Submitters No Conflicts	CA000234	rs_193920817	9 SubmittersRCV000149053 RCV000161027 RCV000214033 RCV000473543 RCV000761073 RCV000785328 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 Rhabdomyosarcoma Breast and/or ovarian cancer Prostate cancer Glioma susceptibility 1 Li-Fraumeni syndrome 1 TP53-related disorder Adrenocortical carcinoma, hereditary Colon adenocarcinoma Squamous cell carcinoma of the head and neck Squamous cell lung carcinoma Acute myeloid leukemia Lung cancer Neoplasm Melanoma Nonpapillary renal cell carcinoma Diffuse midline glioma, H3 K27M-mutant	Criteria Provided Multiple Submitters No Conflicts	CA000144	rs_55863639	25 SubmittersRCV000154460 RCV000218743 RCV000483667 RCV001257525 RCV001271053 RCV001527480 RCV001530197 RCV002288665 RCV003398806 RCV003462060 RCV005888475 RCV005888476 RCV005888477 RCV005888478 RCV005888481 RCV004668810 RCV005888480 RCV005888479 RCV006253842
NM_001330078.2(NRXN1):c.569A>G (p.Asn190Ser)	SNV Germline	Chr2:51027705	Conflicting classifications of pathogenicity	not specified Pitt-Hopkins-like syndrome 2 Pitt-Hopkins-like syndrome 2 Chromosome 2p16.3 deletion syndrome Condition: not provided Intellectual disability Inborn genetic diseases Adrenocortical carcinoma, hereditary	Criteria Provided Conflicting Classifications	CA234426	rs_200792504	12 SubmittersRCV000188273 RCV000473936 RCV000515306 RCV000723758 RCV001251857 RCV002312998 RCV005888428
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 Neoplasm TP53-related disorder Medulloblastoma SHH activated Diffuse midline glioma, H3 K27M-mutant Diffuse glioma, H3 G34 mutant Primary intracranial sarcoma, DICER1-mutant	Criteria Provided Multiple Submitters No Conflicts	CA000019	rs_730882029	26 SubmittersRCV000161074 RCV000213069 RCV000549233 RCV000785301 RCV001374440 RCV001554321 RCV002288707 RCV002492644 RCV003474838 RCV005230001 RCV004797601 RCV006253854 RCV006253852 RCV006253855 RCV006253853
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.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	15 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 Li-Fraumeni syndrome Ovarian neoplasm Hereditary cancer-predisposing syndrome Adrenocortical carcinoma, hereditary Li-Fraumeni syndrome 1 Rhabdomyosarcoma Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype Diffuse midline glioma, H3 K27M-mutant Neoplasm	Criteria Provided Multiple Submitters No Conflicts	CA000148	rs_730881999	12 SubmittersRCV000161024 RCV000606528 RCV000633384 RCV000785332 RCV003162681 RCV003474836 RCV004019945 RCV006253848 RCV006253849 RCV006253850 RCV006273577
NM_000546.6(TP53):c.830G>A (p.Cys277Tyr)	SNV Germline/somatic	Chr17:7673790	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Li-Fraumeni syndrome Malignant tumor of breast Adrenocortical carcinoma, hereditary Neoplasm	Criteria Provided Conflicting Classifications	CA000438	rs_763098116	10 SubmittersRCV000165199 RCV000254809 RCV000456858 RCV001357202 RCV003474865 RCV005230009
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 Diffuse midline glioma, H3 K27M-mutant	Criteria Provided Multiple Submitters No Conflicts	CA000274	rs_786201838	10 SubmittersRCV000164329 RCV000255425 RCV000429618 RCV000460847 RCV000785346 RCV002288732 RCV003474857 RCV006253862
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	10 SubmittersRCV000166045 RCV000255616 RCV000461158 RCV001354219 RCV002288754 RCV003407616 RCV003474872 RCV003128588 RCV003995473
NM_000546.6(TP53):c.413C>T (p.Ala138Val)	SNV Germline/somatic	Chr17:7675199	Likely pathogenic	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Adrenal cortex carcinoma Adrenocortical carcinoma, hereditary Li-Fraumeni syndrome 1 Neoplasm Choroid plexus carcinoma Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype	Reviewed By Expert Panel	CA000168	rs_750600586	8 SubmittersRCV000164195 RCV000813957 RCV003995323 RCV003474852 RCV004019963 RCV006273593 RCV006253860 RCV006253861
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 Neoplasm Familial pancreatic carcinoma Li-Fraumeni syndrome 1 Diffuse midline glioma, H3 K27M-mutant	Criteria Provided Conflicting Classifications	CA000140	rs_786201057	20 SubmittersRCV000162461 RCV000237013 RCV000457119 RCV000576336 RCV003462117 RCV004797602 RCV004668821 RCV005365056 RCV006253857
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_152564.5(VPS13B):c.1559A>G (p.His520Arg)	SNV Germline	Chr8:99135729	Conflicting classifications of pathogenicity	not specified Cohen syndrome Condition: not provided Inborn genetic diseases VPS13B-related disorder Gastric cancer Ovarian serous cystadenocarcinoma Adrenocortical carcinoma, hereditary	Criteria Provided Conflicting Classifications	CA239617	rs_143205296	14 SubmittersRCV000239145 RCV000375746 RCV000426832 RCV002399624 RCV003982923 RCV005889734 RCV005889735 RCV005889733
NM_021939.4(FKBP10):c.246-5C>G	SNV Germline	Chr17:41817053	Conflicting classifications of pathogenicity	Condition: not provided Osteogenesis imperfecta type 11 Osteogenesis imperfecta not specified FKBP10-related disorder Acute myeloid leukemia Adrenocortical carcinoma, hereditary Clear cell carcinoma of kidney Malignant tumor of esophagus	Criteria Provided Conflicting Classifications	CA241786	rs_140027863	10 SubmittersRCV000175935 RCV000329828 RCV002277369 RCV003330535 RCV003947491 RCV005889845 RCV005889847 RCV005889848 RCV005889846
NM_006214.4(PHYH):c.734G>A (p.Arg245Gln)	SNV Germline	Chr10:13283784	Conflicting classifications of pathogenicity	not specified Phytanic acid storage disease Nonsyndromic cleft lip palate Condition: not provided Vitamin D-dependent rickets type II with alopecia Retinal dystrophy Gastric cancer Melanoma Acute myeloid leukemia Nonpapillary renal cell carcinoma Adrenocortical carcinoma, hereditary	Criteria Provided Conflicting Classifications	CA203488	rs_62619919	15 SubmittersRCV000179914 RCV000665931 RCV000755125 RCV000950185 RCV001258288 RCV004816303 RCV005892046 RCV005892047 RCV005892043 RCV005892044 RCV005892045
NM_000158.4(GBE1):c.691+2T>C	SNV Germline	Chr3:81648854	Pathogenic/Likely pathogenic	Glycogen storage disease, type IV Condition: not provided GBE1-related disorder Adult polyglucosan body disease Glycogen storage disease, type IV Glycogen storage disease, type IV Glycogen storage disease IV, classic hepatic Glycogen storage disease Adult polyglucosan body disease Inborn genetic diseases Acute myeloid leukemia Familial cancer of breast Sarcoma Adrenocortical carcinoma, hereditary Arthrogryposis syndrome Dementia Clear cell carcinoma of kidney Familial pancreatic carcinoma	Criteria Provided Multiple Submitters No Conflicts	CA276004	rs_192044702	35 SubmittersRCV000190589 RCV000224184 RCV000368399 RCV000660553 RCV000706641 RCV001449661 RCV003388833 RCV004020302 RCV005892214 RCV005892213 RCV005892218 RCV005892215 RCV005621909 RCV005625419 RCV005892216 RCV005892217
NM_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 Breast carcinoma Li-Fraumeni syndrome 1 Acute myeloid leukemia Adrenocortical carcinoma, hereditary Neoplasm	Criteria Provided Multiple Submitters No Conflicts	CA337141	rs_863224451	14 SubmittersRCV000197359 RCV000235315 RCV000568594 RCV000785533 RCV001610519 RCV002288809 RCV003320135 RCV003468892 RCV004668842
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 Glioma susceptibility 1 Ovarian serous cystadenocarcinoma Squamous cell lung carcinoma Melanoma	Criteria Provided Multiple Submitters No Conflicts	CA339249	rs_863224499	10 SubmittersRCV000200333 RCV000786828 RCV002288813 RCV002288814 RCV004668847 RCV003474954 RCV005893583 RCV005893585 RCV005893584 RCV005893586
NM_000546.6(TP53):c.584T>C (p.Ile195Thr)	SNV Germline/somatic	Chr17:7674947	Pathogenic	Li-Fraumeni syndrome Lung adenocarcinoma Condition: not provided Hereditary cancer-predisposing syndrome Ovarian neoplasm Breast and/or ovarian cancer Li-Fraumeni syndrome 1 Adrenocortical carcinoma, hereditary Familial cancer of breast Li-Fraumeni syndrome 1 Neoplasm TP53-related disorder Astrocytoma IDH-mutant	Criteria Provided Multiple Submitters No Conflicts	CA002232	rs_760043106	17 SubmittersRCV000198789 RCV000421097 RCV000487386 RCV001024600 RCV000785324 RCV001271054 RCV002288812 RCV003474953 RCV005361139 RCV004668846 RCV004725053 RCV006253879
NM_000546.6(TP53):c.815T>G (p.Val272Gly)	SNV Germline	Chr17:7673805	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1 Li-Fraumeni syndrome Adrenocortical carcinoma, hereditary	Criteria Provided Conflicting Classifications	CA10580918	rs_876660333	4 SubmittersRCV000220536 RCV004020685 RCV002515714 RCV005860042
NM_000546.6(TP53):c.743G>T (p.Arg248Leu)	SNV Germline/somatic	Chr17:7674220	Pathogenic	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Adrenocortical carcinoma, hereditary Li-Fraumeni syndrome 1 Neoplasm	Reviewed By Expert Panel	CA10580924	rs_11540652	7 SubmittersRCV000219834 RCV000991149 RCV003475005 RCV004020650 RCV006273642
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 Pancreatic adenocarcinoma Nonpapillary renal cell carcinoma	Criteria Provided Conflicting Classifications	CA10580926	rs_876660807	8 SubmittersRCV000223044 RCV000560536 RCV001355898 RCV003137828 RCV003475037 RCV004020697 RCV005895060 RCV005895059
NM_000546.6(TP53):c.329G>C (p.Arg110Pro)	SNV Germline/somatic	Chr17:7676040	Pathogenic	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Li-Fraumeni syndrome 1 Adrenocortical carcinoma, hereditary Familial cancer of breast IDH-wildtype glioblastoma Astrocytoma, IDH-mutant, grade 3 Neoplasm	Reviewed By Expert Panel	CA10580948	rs_11540654	9 SubmittersRCV000222678 RCV000231991 RCV002288889 RCV003462528 RCV004698486 RCV006253917 RCV006253918 RCV006273660
NM_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 Condition: not provided Li-Fraumeni syndrome 1 Malignant tumor of breast Adrenocortical carcinoma, hereditary Hereditary breast ovarian cancer syndrome	Criteria Provided Conflicting Classifications	CA10575441	rs_730882008	14 SubmittersRCV000226273 RCV000235474 RCV000492420 RCV000767028 RCV000709768 RCV001357626 RCV003463657 RCV003483584
NM_000546.6(TP53):c.375G>T (p.Thr125=)	SNV Germline/somatic	Chr17:7675994	Pathogenic/Likely pathogenic	Li-Fraumeni syndrome Condition: not provided Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1 Squamous cell carcinoma of the head and neck Squamous cell lung carcinoma Adrenocortical carcinoma, hereditary Papillary renal cell carcinoma type 1 Melanoma Malignant tumor of urinary bladder Malignant tumor of esophagus Neoplasm Colon adenocarcinoma Glioma susceptibility 1 Lung cancer	Criteria Provided Multiple Submitters No Conflicts	CA10575452	rs_55863639	6 SubmittersRCV000229813 RCV000786841 RCV002347868 RCV004020764 RCV005895195 RCV005895197 RCV005895201 RCV005895198 RCV005895202 RCV005895199 RCV005895200 RCV005230142 RCV005895194 RCV005895196 RCV005895203
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 Hereditary cancer-predisposing syndrome Adrenal cortex carcinoma Li-Fraumeni syndrome Adrenocortical carcinoma, hereditary Neoplasm	Criteria Provided Conflicting Classifications	CA10588670	rs_121912656	6 SubmittersRCV000255018 RCV002379095 RCV003995742 RCV003509522 RCV004567808 RCV006273690
NM_001136193.2(FASTKD2):c.882-3C>T	SNV Germline	Chr2:206771179	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases Adrenocortical carcinoma, hereditary	Criteria Provided Conflicting Classifications	CA2074994	rs_41272661	5 SubmittersRCV000282029 RCV005831577 RCV005895636
NM_001395413.1(POR):c.633-5C>G	SNV Germline	Chr7:75981512	Conflicting classifications of pathogenicity	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency Condition: not provided Clear cell carcinoma of kidney Sarcoma Nonpapillary renal cell carcinoma Adrenocortical carcinoma, hereditary	Criteria Provided Conflicting Classifications	CA4303768	rs_72555509	6 SubmittersRCV000317406 RCV001692046 RCV005899263 RCV005899264 RCV005899261 RCV005899262
NM_001081.4(CUBN):c.10119C>A (p.Val3373=)	SNV Germline	Chr10:16836296	Conflicting classifications of pathogenicity	Imerslund-Grasbeck syndrome type 1 Imerslund-Grasbeck syndrome Condition: not provided CUBN-related disorder Thyroid cancer, nonmedullary, 1 Adrenocortical carcinoma, hereditary Melanoma Ovarian serous cystadenocarcinoma	Criteria Provided Conflicting Classifications	CA5422474	rs_139596037	7 SubmittersRCV000267153 RCV000638876 RCV001797077 RCV003967858 RCV005891805 RCV005891803 RCV005891806 RCV005891804
NM_022081.6(HPS4):c.751A>T (p.Thr251Ser)	SNV Germline	Chr22:26465507	Conflicting classifications of pathogenicity	not specified Hermansky-Pudlak syndrome 4 Oculocutaneous albinism Condition: not provided Uveal melanoma Colorectal cancer Thyroid cancer, nonmedullary, 1 Hepatocellular carcinoma Adrenocortical carcinoma, hereditary Lung cancer Cervical cancer Clear cell carcinoma of kidney Malignant lymphoma, large B-cell, diffuse Melanoma Malignant tumor of esophagus Sarcoma Gastric cancer Ovarian serous cystadenocarcinoma Thymoma	Criteria Provided Conflicting Classifications	CA10163504	rs_34962745	7 SubmittersRCV000614234 RCV000856673 RCV000767301 RCV000950297 RCV005897534 RCV005897536 RCV005897541 RCV005897529 RCV005897531 RCV005897543 RCV005897532 RCV005897533 RCV005897535 RCV005897542 RCV005897530 RCV005897537 RCV005897538 RCV005897539 RCV005897540
NM_000546.6(TP53):c.518T>G (p.Val173Gly)	SNV Germline/somatic	Chr17:7675094	Conflicting classifications of pathogenicity	Li-Fraumeni syndrome Adrenocortical carcinoma, hereditary Diffuse glioma, H3 G34 mutant Squamous cell carcinoma of the head and neck Colorectal cancer Malignant tumor of esophagus	Criteria Provided Conflicting Classifications	CA16602485	rs_1057519747	4 SubmittersRCV000807434 RCV003463825 RCV006253969 RCV005900728 RCV005900730 RCV005900729
NM_000546.6(TP53):c.842A>C (p.Asp281Ala)	SNV Germline/somatic	Chr17:7673778	Pathogenic/Likely pathogenic	Adrenocortical carcinoma, hereditary Hereditary cancer-predisposing syndrome Malignant glioma Li-Fraumeni syndrome	Criteria Provided Multiple Submitters No Conflicts	CA16603011	rs_587781525	4 SubmittersRCV003463826 RCV005286077 RCV006254031 RCV006462615
NM_000546.6(TP53):c.809T>G (p.Phe270Cys)	SNV Germline	Chr17:7673811	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Li-Fraumeni syndrome Adrenocortical carcinoma, hereditary Li-Fraumeni syndrome 1 Lung cancer	Criteria Provided Conflicting Classifications	CA16603019	rs_1057519986	6 SubmittersRCV001805037 RCV002508212 RCV002524696 RCV003470375 RCV004022213 RCV005900738
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 Diffuse midline glioma, H3 K27M-mutant Juvenile type testicular granulosa cell tumor	Criteria Provided Multiple Submitters No Conflicts	CA16603022	rs_1057519989	11 SubmittersRCV000492366 RCV000633372 RCV001257520 RCV002289524 RCV003168616 RCV003332172 RCV003476007 RCV004668954 RCV006254033 RCV006254034
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 Li-Fraumeni syndrome 1 Adrenocortical carcinoma, hereditary Neoplasm	Criteria Provided Multiple Submitters No Conflicts	CA001743	rs_121912656	6 SubmittersRCV000558455 RCV001026313 RCV001548147 RCV002289525 RCV003476008 RCV004668955
NM_000546.6(TP53):c.536A>T (p.His179Leu)	SNV Germline/somatic	Chr17:7675076	Conflicting classifications of pathogenicity	Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Adrenocortical carcinoma, hereditary Condition: not provided Li-Fraumeni syndrome 1 Neoplasm	Criteria Provided Conflicting Classifications	CA16603029	rs_1057519991	7 SubmittersRCV000705316 RCV002348143 RCV003476009 RCV004721352 RCV004022217 RCV006273740
NM_000546.6(TP53):c.535C>G (p.His179Asp)	SNV Germline/somatic	Chr17:7675077	Pathogenic/Likely pathogenic	Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1 Adrenocortical carcinoma, hereditary Condition: not provided Diffuse glioma, H3 G34 mutant	Criteria Provided Multiple Submitters No Conflicts	CA16603031	rs_587780070	6 SubmittersRCV001851020 RCV002348144 RCV003335320 RCV003470376 RCV005230303 RCV006254038
NM_000546.6(TP53):c.395A>G (p.Lys132Arg)	SNV Germline/somatic	Chr17:7675217	Pathogenic/Likely pathogenic	Li-Fraumeni syndrome Ovarian neoplasm Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1 TP53-related disorder Neoplasm 12 conditions Adrenocortical carcinoma, hereditary Sarcoma Ovarian serous cystadenocarcinoma Lung cancer Colon adenocarcinoma Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA16603045	rs_1057519996	12 SubmittersRCV000471183 RCV000785521 RCV002356517 RCV004022224 RCV004797608 RCV004668957 RCV005018717 RCV005860074 RCV005900753 RCV005900754 RCV005900755 RCV005900752 RCV005243222
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/somatic	Chr17:7673787	Conflicting classifications of pathogenicity	Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1 Adrenocortical carcinoma, hereditary Neoplasm	Criteria Provided Conflicting Classifications	CA16603063	rs_876659802	6 SubmittersRCV000633329 RCV001017582 RCV002289531 RCV004567903 RCV006273742
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 Colorectal cancer Condition: not provided	Criteria Provided Conflicting Classifications	CA16603073	rs_753660142	8 SubmittersRCV000568150 RCV000706131 RCV000785300 RCV003476010 RCV004022240 RCV006250173 RCV006259888
NM_000546.6(TP53):c.644G>A (p.Ser215Asn)	SNV Germline/somatic	Chr17:7674887	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Adrenocortical carcinoma, hereditary Li-Fraumeni syndrome 1 not specified Diffuse midline glioma, H3 K27M-mutant	Criteria Provided Conflicting Classifications	CA16603077	rs_587782177	6 SubmittersRCV000492171 RCV000816006 RCV003476011 RCV004022241 RCV005418106 RCV006254048
NM_000546.6(TP53):c.487T>C (p.Tyr163His)	SNV Germline	Chr17:7675125	Pathogenic	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Li-Fraumeni syndrome 1 Adrenocortical carcinoma, hereditary	Reviewed By Expert Panel	CA16603094	rs_786203436	5 SubmittersRCV001023195 RCV001071488 RCV002289543 RCV003476012
NM_000546.6(TP53):c.658T>C (p.Tyr220His)	SNV Germline/somatic	Chr17:7674873	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Ovarian neoplasm Li-Fraumeni syndrome Adrenocortical carcinoma, hereditary Li-Fraumeni syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA002135	rs_530941076	8 SubmittersRCV000566866 RCV000785254 RCV001215103 RCV003476013 RCV004022253
NM_198428.3(BBS9):c.2258A>T (p.Glu753Val)	SNV Germline	Chr7:33505605	Conflicting classifications of pathogenicity	Condition: not provided Bardet-Biedl syndrome Bardet-Biedl syndrome 9 Inborn genetic diseases BBS9-related disorder Retinal dystrophy Sarcoma Clear cell carcinoma of kidney Ovarian serous cystadenocarcinoma Adrenocortical carcinoma, hereditary Lung cancer Familial cancer of breast	Criteria Provided Conflicting Classifications	CA4214639	rs_61764068	9 SubmittersRCV000417647 RCV001083313 RCV001165275 RCV002521642 RCV003912685 RCV004816660 RCV005896668 RCV005896667 RCV005896669 RCV005896666 RCV005896670 RCV005896665
NM_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_032444.4(SLX4):c.2305G>C (p.Glu769Gln)	SNV Germline	Chr16:3592721	Conflicting classifications of pathogenicity	Fanconi anemia Fanconi anemia complementation group P not specified Condition: not provided SLX4-related disorder Gastric cancer Adrenocortical carcinoma, hereditary Lung cancer	Criteria Provided Conflicting Classifications	CA7866204	rs_150712805	14 SubmittersRCV000463301 RCV001121834 RCV001821253 RCV001796060 RCV003902645 RCV005899467 RCV005899466 RCV005899468
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/somatic	Chr17:7676210	Pathogenic	Condition: not provided Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Li-Fraumeni syndrome 1 Adrenocortical carcinoma, hereditary Neoplasm	Criteria Provided Multiple Submitters No Conflicts	CA16620640	rs_1064794618	8 SubmittersRCV000480240 RCV001012297 RCV001236368 RCV002289632 RCV003464011 RCV005230944
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.559+1G>A	SNV Germline	Chr17:7675052	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome 11 conditions Condition: not provided Li-Fraumeni syndrome Li-Fraumeni syndrome 1 Adrenocortical carcinoma, hereditary Familial cancer of breast Colorectal cancer Squamous cell lung carcinoma Ovarian serous cystadenocarcinoma Melanoma Colon adenocarcinoma Malignant tumor of esophagus	Criteria Provided Multiple Submitters No Conflicts	CA397841068	rs_1131691042	10 SubmittersRCV000492159 RCV000763418 RCV000786834 RCV001210960 RCV002289678 RCV003476180 RCV005899768 RCV005899772 RCV005899770 RCV005899773 RCV005899774 RCV005899769 RCV005899771
NM_000546.6(TP53):c.313G>A (p.Gly105Ser)	SNV Germline/somatic	Chr17:7676056	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1 Li-Fraumeni syndrome Adrenocortical carcinoma, hereditary Adrenal cortex carcinoma	Criteria Provided Multiple Submitters No Conflicts	CA397844735	rs_1060501195	5 SubmittersRCV000492331 RCV002289669 RCV001379190 RCV005860088 RCV004003474
NM_000546.6(TP53):c.478A>G (p.Met160Val)	SNV Germline	Chr17:7675134	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Adrenocortical carcinoma, hereditary Familial cancer of breast Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA397841976	rs_377274728	6 SubmittersRCV000513585 RCV000570720 RCV001051011 RCV004568658 RCV005356043
NM_014140.4(SMARCAL1):c.1851+5G>A	SNV Germline	Chr2:216447163	Conflicting classifications of pathogenicity	Schimke immuno-osseous dysplasia Condition: not provided SMARCAL1-related disorder Adrenocortical carcinoma, hereditary Thymoma	Criteria Provided Conflicting Classifications	CA2098018	rs_2066514	6 SubmittersRCV000544902 RCV000593130 RCV003960300 RCV005896746 RCV005896747
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 Embryonal rhabdomyosarcoma	Criteria Provided Multiple Submitters No Conflicts	CA397842017	rs_1555526131	7 SubmittersRCV000527533 RCV001764539 RCV002341276 RCV003476227 RCV004669032 RCV004023788 RCV006254099
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.917G>A (p.Arg306Gln)	SNV Germline	Chr17:7673703	Conflicting classifications of pathogenicity	Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Condition: not provided Familial cancer of breast Squamous cell carcinoma of the head and neck not specified Adrenocortical carcinoma, hereditary Familial cancer of breast Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA287486566	rs_1048095040	11 SubmittersRCV000527123 RCV000561902 RCV000986056 RCV000664300 RCV000989706 RCV003330753 RCV004568752 RCV005357556
NM_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 Neoplasm Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA397837142	rs_1057519990	7 SubmittersRCV000528667 RCV000785497 RCV001027016 RCV002289744 RCV004568751 RCV004669033 RCV004772959
NM_000546.6(TP53):c.388C>G (p.Leu130Val)	SNV Germline	Chr17:7675224	Conflicting classifications of pathogenicity	Li-Fraumeni syndrome Condition: not provided Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1 Adrenocortical carcinoma, hereditary	Criteria Provided Conflicting Classifications	CA287488714	rs_863224683	5 SubmittersRCV000536061 RCV000759374 RCV000565366 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	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.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.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 Adrenocortical carcinoma, hereditary	Criteria Provided Conflicting Classifications	CA397842430	rs_587782197	8 SubmittersRCV000565971 RCV000785310 RCV001537369 RCV003621548 RCV004024460 RCV005860110
NM_000546.6(TP53):c.375G>C (p.Thr125=)	SNV Germline	Chr17:7675994	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Condition: not provided TP53-related disorder Li-Fraumeni syndrome Adrenocortical carcinoma, hereditary Li-Fraumeni syndrome 1 Familial cancer of breast	Criteria Provided Multiple Submitters No Conflicts	CA497926317	rs_55863639	8 SubmittersRCV000570944 RCV002508940 RCV003403351 RCV003509563 RCV003476320 RCV004024459 RCV005898501
NM_000546.6(TP53):c.871A>G (p.Lys291Glu)	SNV Germline	Chr17:7673749	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Li-Fraumeni syndrome 1 Adrenocortical carcinoma, hereditary Condition: not provided	Criteria Provided Conflicting Classifications	CA397836583	rs_1555525126	6 SubmittersRCV000575139 RCV000806261 RCV002289802 RCV003459311 RCV006448414
NM_000546.6(TP53):c.919+1G>T	SNV Germline/somatic	Chr17:7673700	Likely pathogenic	Condition: not provided Colorectal cancer Li-Fraumeni syndrome 1 Squamous cell carcinoma of the head and neck Malignant tumor of esophagus Adrenocortical carcinoma, hereditary Lung cancer	Criteria Provided Single Submitter	CA397836242	rs_1131691039	4 SubmittersRCV000786817 RCV004813118 RCV004024666 RCV005898596 RCV005898597 RCV005898598 RCV005898599
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/somatic	Chr17:7675113	Pathogenic/Likely pathogenic	Li-Fraumeni syndrome Condition: not provided Li-Fraumeni syndrome 1 Hereditary cancer-predisposing syndrome Adrenocortical carcinoma, hereditary Neoplasm	Criteria Provided Multiple Submitters No Conflicts	CA397841811	rs_1555526097	11 SubmittersRCV000633353 RCV000657587 RCV000663165 RCV001023383 RCV003471978 RCV006273954
NM_001382.4(DPAGT1):c.250A>C (p.Lys84Gln)	SNV Germline	Chr11:119101050	Conflicting classifications of pathogenicity	Congenital myasthenic syndrome 13 DPAGT1-congenital disorder of glycosylation Inborn genetic diseases Adrenocortical carcinoma, hereditary DPAGT1-congenital disorder of glycosylation	Criteria Provided Conflicting Classifications	CA6314685	rs_112355069	5 SubmittersRCV000660514 RCV002530576 RCV005901424 RCV005357879
NM_000235.4(LIPA):c.662A>G (p.Asp221Gly)	SNV Germline	Chr10:89225105	Conflicting classifications of pathogenicity	Condition: not provided Lysosomal acid lipase deficiency Wolman disease Cardiovascular phenotype LIPA-related disorder Malignant tumor of urinary bladder Adrenocortical carcinoma, hereditary Clear cell carcinoma of kidney Sarcoma	Criteria Provided Conflicting Classifications	CA5593658	rs_145163592	7 SubmittersRCV000730763 RCV001080631 RCV001450075 RCV002360730 RCV004535714 RCV005901642 RCV005901643 RCV005901644 RCV005901645
NM_000546.6(TP53):c.378C>G (p.Tyr126Ter)	SNV Germline/somatic	Chr17:7675234	Pathogenic/Likely pathogenic	Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Adrenocortical carcinoma, hereditary Gastric cancer Adrenal cortex carcinoma Li-Fraumeni syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA397843943	rs_1567554500	7 SubmittersRCV000702157 RCV002343542 RCV003472237 RCV003165877 RCV003999725 RCV004026584
NM_000546.6(TP53):c.919+1G>A	SNV Germline	Chr17:7673700	Pathogenic	Li-Fraumeni syndrome 1 Li-Fraumeni syndrome Condition: not provided Hereditary cancer-predisposing syndrome Adrenocortical carcinoma, hereditary TP53-related disorder Ovarian serous cystadenocarcinoma Malignant tumor of esophagus Familial cancer of breast Nonpapillary renal cell carcinoma	Reviewed By Expert Panel	CA397836247	rs_1131691039	11 SubmittersRCV000782136 RCV000991150 RCV001578272 RCV003307417 RCV003992389 RCV004797621 RCV005897417 RCV005897415 RCV005897414 RCV005897416
NM_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	CA397837052	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 Primary intracranial sarcoma, DICER1-mutant Medulloblastoma SHH activated and TP53 mutant	Criteria Provided Multiple Submitters No Conflicts	CA287488024	rs_587782664	7 SubmittersRCV000785508 RCV002370058 RCV003472321 RCV003509608 RCV003332249 RCV006254153 RCV006254154
NM_000546.6(TP53):c.560-1G>A	SNV Germline/somatic	Chr17:7674972	Pathogenic	Ovarian neoplasm Condition: not provided Hereditary cancer-predisposing syndrome Adrenocortical carcinoma, hereditary Li-Fraumeni syndrome Neoplasm Li-Fraumeni syndrome 1 Sarcoma Ovarian serous cystadenocarcinoma Uterine carcinosarcoma Lung cancer Malignant tumor of urinary bladder Familial cancer of breast	Criteria Provided Multiple Submitters No Conflicts	CA397840949	rs_1202793339	8 SubmittersRCV000785507 RCV000786832 RCV001024314 RCV003472320 RCV002535728 RCV004669111 RCV004027349 RCV005901893 RCV005901894 RCV005901895 RCV005901896 RCV005901892 RCV005901891
NM_000546.6(TP53):c.375+1G>T	SNV Germline	Chr17:7675993	Pathogenic/Likely pathogenic	Condition: not provided Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1 Squamous cell carcinoma of the head and neck Gastric cancer Adrenocortical carcinoma, hereditary Ovarian serous cystadenocarcinoma Familial cancer of breast	Criteria Provided Multiple Submitters No Conflicts	CA397844143	rs_1567555445	7 SubmittersRCV000786840 RCV000804919 RCV001021045 RCV002290035 RCV005901927 RCV005901929 RCV005901928 RCV005901930 RCV005901926
NM_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 TP53-related disorder	Criteria Provided Conflicting Classifications	CA287488988	rs_989692988	7 SubmittersRCV000804275 RCV001020381 RCV002290445 RCV003478506 RCV004569609 RCV005870893
NM_000546.6(TP53):c.97-11C>G	SNV Germline	Chr17:7676283	Pathogenic/Likely pathogenic	Li-Fraumeni syndrome Adrenocortical carcinoma, hereditary Uterine corpus endometrial carcinoma	Criteria Provided Multiple Submitters No Conflicts	CA656739915	rs_769697802	4 SubmittersRCV000791519 RCV003472330 RCV005901946
NM_001363711.2(DUOX2):c.2835A>G (p.Gly945=)	SNV Germline	Chr15:45101809	Conflicting classifications of pathogenicity	Condition: not provided Thyroid dyshormonogenesis 6 Melanoma Malignant tumor of esophagus Nonpapillary renal cell carcinoma Adrenocortical carcinoma, hereditary Uterine corpus endometrial carcinoma Clear cell carcinoma of kidney Colon adenocarcinoma Sarcoma Ovarian serous cystadenocarcinoma Colorectal cancer Cervical cancer Gastric cancer Thyroid cancer, nonmedullary, 1 Lung cancer	Criteria Provided Conflicting Classifications	CA7538136	rs_112428007	5 SubmittersRCV000953337 RCV001121401 RCV005907862 RCV005907852 RCV005907853 RCV005907854 RCV005907864 RCV005907856 RCV005907851 RCV005907858 RCV005907860 RCV005907857 RCV005907855 RCV005907859 RCV005907861 RCV005907863
NM_001082971.2(DDC):c.715A>T (p.Met239Leu)	SNV Germline	Chr7:50504059	Conflicting classifications of pathogenicity	Deficiency of aromatic-L-amino-acid decarboxylase Malignant tumor of esophagus Adrenocortical carcinoma, hereditary	Criteria Provided Conflicting Classifications	CA4262269	rs_11575376	3 SubmittersRCV000974672 RCV005910737 RCV005910738
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.1048C>G (p.Leu350Val)	SNV Germline	Chr17:7670661	Conflicting classifications of pathogenicity	Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Adrenocortical carcinoma, hereditary	Criteria Provided Conflicting Classifications	CA000823	rs_768046010	5 SubmittersRCV001059236 RCV002402425 RCV003462579
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_018474.6(KIZ):c.1678+2T>C	SNV Germline	Chr20:21215650	Likely pathogenic	Condition: not provided Adrenocortical carcinoma, hereditary	Criteria Provided Single Submitter	CA9784940	rs_754547088	2 SubmittersRCV001208721 RCV005909001
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_024120.5(NDUFAF5):c.480-3T>G	SNV Germline	Chr20:13798458	Conflicting classifications of pathogenicity	Leigh syndrome Condition: not provided Mitochondrial complex I deficiency, nuclear type 16 NDUFAF5-related disorder Ovarian serous cystadenocarcinoma Thymoma Adrenocortical carcinoma, hereditary	Criteria Provided Conflicting Classifications	CA9767782	rs_749288299	5 SubmittersRCV001279569 RCV001773584 RCV003469500 RCV004758155 RCV005910825 RCV005910826 RCV005910824
NM_000546.6(TP53):c.993+2T>C	SNV Germline	Chr17:7673533	Pathogenic/Likely pathogenic	Condition: not provided Li-Fraumeni syndrome Adrenocortical carcinoma, hereditary Ovarian serous cystadenocarcinoma Gastric cancer Squamous cell lung carcinoma Hepatocellular carcinoma	Criteria Provided Multiple Submitters No Conflicts	CA397835629	rs_1597359053	4 SubmittersRCV001553782 RCV003621596 RCV004571059 RCV005916224 RCV005916223 RCV005916221 RCV005916222
NM_001378454.1(ALMS1):c.10078+1G>T	SNV Germline	Chr2:73550438	Conflicting classifications of pathogenicity	Alstrom syndrome Cardiovascular phenotype Adrenocortical carcinoma, hereditary	Criteria Provided Conflicting Classifications	CA1714860	rs_765075310	3 SubmittersRCV002036669 RCV002443082 RCV005925720
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 Condition: not provided	Criteria Provided Conflicting Classifications	CA397842327	rs_1453167097	4 SubmittersRCV002051460 RCV003464164 RCV004038887 RCV006434481
NM_000546.6(TP53):c.406C>T (p.Gln136Ter)	SNV Germline/somatic	Chr17:7675206	Pathogenic	Li-Fraumeni syndrome Adrenocortical carcinoma, hereditary Li-Fraumeni syndrome 1 Neoplasm	Criteria Provided Multiple Submitters No Conflicts	CA397842767	rs_1555526268	4 SubmittersRCV002569348 RCV003475387 RCV004067553 RCV006274368
NM_000546.6(TP53):c.799C>G (p.Arg267Gly)	SNV Germline/somatic	Chr17:7673821	Pathogenic	Hereditary cancer-predisposing syndrome Adrenocortical carcinoma, hereditary Choroid plexus carcinoma	Criteria Provided Multiple Submitters No Conflicts	CA397837125	rs_55832599	3 SubmittersRCV002419114 RCV003464488 RCV006254334
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 Li-Fraumeni syndrome not specified	Criteria Provided Conflicting Classifications	CA397845445	rs_2073469226	5 SubmittersRCV002433030 RCV004017935 RCV004571148 RCV005098175 RCV005232983
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_025137.4(SPG11):c.2068-1G>A	SNV Germline	Chr15:44626508	Likely pathogenic	Hereditary spastic paraplegia 11 Adrenocortical carcinoma, hereditary	Criteria Provided Single Submitter	CA392234031	rs_2505582928	2 SubmittersRCV003496039 RCV005931534
NM_000546.6(TP53):c.1171G>A (p.Asp391Asn)	SNV Germline	Chr17:7669620	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Adrenocortical carcinoma, hereditary Li-Fraumeni syndrome	Criteria Provided Conflicting Classifications	CA397830082	rs_2150988074	3 SubmittersRCV004518764 RCV004573481 RCV006564923

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
TP53-related disorder
Familial pancreatic carcinoma
Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype
Colorectal cancer
Breast phyllodes tumor
Medulloblastoma SHH activated and TP53 mutant
Diffuse glioma, H3 G34 mutant

Reviewed By Expert Panel

CA000382

rs_121912651

38 SubmittersRCV000013140 RCV000115735 RCV000168242 RCV000213057 RCV000438698 RCV000785485 RCV001255674 RCV001271100 RCV001374442 RCV003149569 RCV003105772 RCV003162243 RCV003318332 RCV003460463 RCV004745154 RCV005357116 RCV006253466 RCV006250157 RCV006253469 RCV006253467 RCV006253468

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
Embryonal rhabdomyosarcoma
Astrocytoma IDH-mutant
Diffuse midline glioma, H3 K27M-mutant

Criteria Provided
Multiple Submitters
No Conflicts

CA000371

rs_121912656

12 SubmittersRCV000013149 RCV000164465 RCV000206683 RCV000785472 RCV000986053 RCV003473082 RCV006253471 RCV006253472 RCV006253473

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

SNV
Germline/somatic

Chr17:7674220

Pathogenic

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

Reviewed By Expert Panel

CA000387

rs_11540652

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

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

SNV
Germline/somatic

Chr17:7673776

Pathogenic/Likely pathogenic

Li-fraumeni-like syndrome
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1
Hereditary cancer-predisposing syndrome
Condition: not provided
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
Adrenocortical carcinoma, hereditary
Melanoma
Low grade glioma
Astrocytoma IDH-mutant
Diffuse midline glioma, H3 K27M-mutant
Medulloblastoma WNT activated
Diffuse glioma, H3 G34 mutant
Signet ring cell carcinoma
Neoplasm
TP53-related disorder
Juvenile type testicular granulosa cell tumor
Rhabdomyosarcoma

Criteria Provided
Multiple Submitters
No Conflicts

CA000454

rs_28934574

38 SubmittersRCV000013161 RCV000148905 RCV000144670 RCV000210145 RCV000236400 RCV000441472 RCV000722016 RCV000785546 RCV001270278 RCV003315223 RCV004566738 RCV006253485 RCV006253486 RCV006253487 RCV006253488 RCV006253489 RCV006253490 RCV006253492 RCV004668718 RCV004797589 RCV006253491 RCV006253484

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
Malignant tumor of urinary bladder
Adrenocortical carcinoma, hereditary
12 conditions
TP53-related disorder
Gastric cancer
See cases
IDH-wildtype glioblastoma
Neoplasm
Medulloblastoma WNT activated
Rhabdomyosarcoma

Reviewed By Expert Panel

CA000367

rs_28934575

36 SubmittersRCV000013162 RCV000148909 RCV000154014 RCV000130147 RCV000144669 RCV000226657 RCV000587017 RCV000588736 RCV000785316 RCV001270274 RCV001354825 RCV001642222 RCV003332080 RCV003460464 RCV002496337 RCV003914832 RCV003162245 RCV004797759 RCV006253495 RCV006273052 RCV006253494 RCV006253493

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

SNV
Germline/somatic

Chr17:7673802

Pathogenic

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

Reviewed By Expert Panel

CA000434

rs_28934576

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

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

SNV
Germline/somatic

Chr17:7675161

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA000198

rs_28934874

8 SubmittersRCV000013168 RCV000130617 RCV000520731 RCV000691152 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
Li-Fraumeni syndrome
Condition: not provided
Neoplasm
Malignant tumor of esophagus
Colorectal cancer
Ovarian neoplasm
Gastric cancer
12 conditions
Adrenocortical carcinoma, hereditary
Lip and oral cavity carcinoma
Squamous cell carcinoma of the head and neck
TP53-related disorder
Familial cancer of breast
Astrocytoma IDH-mutant
Diffuse midline glioma, H3 K27M-mutant
Medulloblastoma SHH activated and TP53 mutant
Undifferentiated embryonal sarcoma of the liver
Neuroblastoma
IDH-wildtype glioblastoma
Small intestine adenocarcinoma

Reviewed By Expert Panel

CA000251

rs_28934578

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

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

SNV
Germline/somatic

Chr17:7670678

Likely pathogenic

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

Reviewed By Expert Panel

CA000021

rs_121912662

7 SubmittersRCV000013174 RCV000991141 RCV002390102 RCV003473083 RCV003996091

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

SNV
Germline/somatic

Chr17:7670699

Pathogenic/Likely pathogenic/Pathogenic, low penetrance

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

Criteria Provided
Multiple Submitters
No Conflicts

CA000013

rs_121912664

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

NM_000546.6(TP53):c.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_000282.4(PCCA):c.1651G>T (p.Val551Phe)

SNV
Germline

Chr13:100368479

Conflicting classifications of pathogenicity

Propionic acidemia
not specified
Condition: not provided
Thyroid cancer, nonmedullary, 1
Melanoma
Hepatocellular carcinoma
Malignant tumor of esophagus
Ovarian serous cystadenocarcinoma
Thymoma
Nonpapillary renal cell carcinoma
Lung cancer
Clear cell carcinoma of kidney
Uveal melanoma
Colorectal cancer
Gastric cancer
Uterine carcinosarcoma
Adrenocortical carcinoma, hereditary
Cervical cancer

Criteria Provided
Conflicting Classifications

CA292687

rs_61749895

11 SubmittersRCV000032108 RCV000127322 RCV002262596 RCV005888856 RCV005888857 RCV005888844 RCV005888845 RCV005888853 RCV005888855 RCV005888846 RCV005888858 RCV005888849 RCV005888850 RCV005888851 RCV005888852 RCV005888854 RCV005888847 RCV005888848

NM_000492.4(CFTR):c.1584G>A (p.Glu528=)

SNV
Germline

Chr7:117559655

Conflicting classifications of pathogenicity

not specified
Hereditary pancreatitis
Cystic fibrosis
Condition: not provided
Pancreatitis
CFTR-related disorder
Congenital bilateral aplasia of vas deferens from CFTR mutation
Bronchiectasis with or without elevated sweat chloride 1
Uterine corpus endometrial carcinoma
Familial pancreatic carcinoma
Colon adenocarcinoma
Colorectal cancer
Lymphoma
Adrenocortical carcinoma, hereditary
Cervical cancer
Thymoma
Thyroid cancer, nonmedullary, 1
Cholangiocarcinoma
Malignant tumor of esophagus
Nonpapillary renal cell carcinoma
Gastric cancer
Ovarian serous cystadenocarcinoma
Lung cancer

Criteria Provided
Conflicting Classifications

CA132749

rs_1800095

23 SubmittersRCV000036518 RCV000119037 RCV000231696 RCV000422767 RCV000844954 RCV001027903 RCV001588847 RCV005416110 RCV005889012 RCV005889003 RCV005888998 RCV005889004 RCV005889006 RCV005889001 RCV005889002 RCV005889008 RCV005889009 RCV005889010 RCV005888999 RCV005889000 RCV005889005 RCV005889007 RCV005889011

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

SNV
Germline/somatic

Chr17:7674945

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA000282

rs_397516435

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

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

SNV
Germline/somatic

Chr17:7673803

Pathogenic/Likely pathogenic

Li-Fraumeni syndrome 1
Prostate cancer
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Condition: not provided
Neoplasm
Ovarian neoplasm
Multiple myeloma
Adrenocortical carcinoma, hereditary
Embryonal rhabdomyosarcoma
Neuroblastoma
Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype
Astrocytoma IDH-mutant
TP53-related disorder
Adenocarcinoma of the large intestine
Diffuse midline glioma, H3 K27M-mutant
Medulloblastoma WNT activated
Primary intracranial sarcoma, DICER1-mutant

Criteria Provided
Multiple Submitters
No Conflicts

CA000432

rs_121913343

28 SubmittersRCV000144665 RCV000149051 RCV000131966 RCV000205625 RCV000254692 RCV000431786 RCV000785470 RCV004595896 RCV003466889 RCV006253731 RCV006253730 RCV006253732 RCV006253733 RCV004745172 RCV006253737 RCV006253734 RCV006253736 RCV006253735

NM_015375.3(DSTYK):c.654+1G>A

SNV
Germline

Chr1:205187417

Conflicting classifications of pathogenicity

Congenital anomalies of kidney and urinary tract 1
Condition: not provided
DSTYK-related disorder
Hereditary spastic paraplegia 23
Chronic lymphocytic leukemia/small lymphocytic lymphoma
Adrenocortical carcinoma, hereditary

Criteria Provided
Conflicting Classifications

CA1353006

rs_201091809

6 SubmittersRCV000054497 RCV001853078 RCV003905015 RCV003387748 RCV005890367 RCV005890366

NM_000535.7(PMS2):c.2174+1G>A

SNV
Germline

Chr7:5982823

Pathogenic

Lynch syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome 4
Hereditary nonpolyposis colorectal neoplasms
Breast and/or ovarian cancer
PMS2-related disorder
Mismatch repair cancer syndrome 4
Lynch syndrome 4
Mismatch repair cancer syndrome 4
Colon adenocarcinoma
Adrenocortical carcinoma, hereditary

Reviewed By Expert Panel

CA010965

rs_267608172

20 SubmittersRCV000076844 RCV000115677 RCV000218995 RCV000409361 RCV000539044 RCV003149757 RCV004742244 RCV005031560 RCV005357499 RCV005886124 RCV005886125

NM_006343.3(MERTK):c.60A>T (p.Arg20Ser)

SNV
Germline

Chr2:111898795

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Retinitis pigmentosa
Retinitis pigmentosa 38
Familial pancreatic carcinoma
Lymphoma
Adrenocortical carcinoma, hereditary
Ovarian cancer
Chronic lymphocytic leukemia/small lymphocytic lymphoma
Sarcoma
Nonpapillary renal cell carcinoma
Cervical cancer
Uterine carcinosarcoma
Thymoma
Thyroid cancer, nonmedullary, 1
Acute myeloid leukemia
Malignant tumor of esophagus

Criteria Provided
Conflicting Classifications

CA148491

rs_35898499

7 SubmittersRCV000081391 RCV000086964 RCV000358600 RCV003389454 RCV005886513 RCV005886515 RCV005886510 RCV005886512 RCV005886519 RCV005886514 RCV005886509 RCV005886511 RCV005886516 RCV005886517 RCV005886518 RCV005886507 RCV005886508

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

SNV
Germline/somatic

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
High-grade astrocytoma with piloid features

Criteria Provided
Conflicting Classifications

CA000214

rs_563378859

14 SubmittersRCV000115721 RCV000213051 RCV000232885 RCV000409094 RCV000764146 RCV002465516 RCV003467058 RCV005016392 RCV006253798

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
Hereditary cancer-predisposing syndrome
Neoplasm
Adrenocortical carcinoma, hereditary
Diffuse midline glioma, H3 K27M-mutant
Primary intracranial sarcoma, DICER1-mutant

Criteria Provided
Multiple Submitters
No Conflicts

CA000256

rs_587780070

12 SubmittersRCV000115726 RCV000555493 RCV000663095 RCV000785312 RCV002288597 RCV004668781 RCV003460828 RCV006253800 RCV006253801

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
12 conditions

Criteria Provided
Conflicting Classifications

CA000288

rs_587780072

13 SubmittersRCV000115729 RCV000473040 RCV000563913 RCV001257499 RCV004724809 RCV004567015 RCV005016394

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

SNV
Germline/somatic

Chr17:7674872

Pathogenic

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

Reviewed By Expert Panel

CA000315

rs_121912666

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

NM_000546.6(TP53):c.800G>A (p.Arg267Gln)

SNV
Germline/somatic

Chr17:7673820

Likely pathogenic

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

Reviewed By Expert Panel

CA000424

rs_587780075

15 SubmittersRCV000115737 RCV000205433 RCV000213058 RCV000662441 RCV001358724 RCV001358329 RCV004567016 RCV006273522

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

SNV
Germline/somatic

Chr17:7674893

Pathogenic/Likely pathogenic

not specified
Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1
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
Adrenal cortex carcinoma
Embryonal rhabdomyosarcoma
Neoplasm

Criteria Provided
Multiple Submitters
No Conflicts

CA000302

rs_587778720

27 SubmittersRCV000122176 RCV000123099 RCV000130072 RCV000144664 RCV000420734 RCV000626448 RCV001255672 RCV001798386 RCV003460862 RCV004745203 RCV006253810 RCV006253811 RCV006273527

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
Familial cancer of breast
Li-Fraumeni syndrome 1
Neoplasm
Medulloblastoma WNT activated

Criteria Provided
Multiple Submitters
No Conflicts

CA000423

rs_55832599

24 SubmittersRCV000130398 RCV000413074 RCV000538977 RCV000763416 RCV001255676 RCV002247507 RCV002288637 RCV003149899 RCV003460927 RCV004797597 RCV005359236 RCV006273546 RCV006253814

NM_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/somatic

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
Adrenocortical carcinoma, hereditary
TP53-related disorder
12 conditions
Neoplasm

Criteria Provided
Multiple Submitters
No Conflicts

CA000227

rs_587782144

31 SubmittersRCV000130708 RCV000227859 RCV000255654 RCV000496787 RCV001257522 RCV003492603 RCV003461996 RCV004797598 RCV004796030 RCV006273548

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

SNV
Germline

Chr17:7670716

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1
Adrenocortical carcinoma, hereditary
Colon adenocarcinoma
Ovarian serous cystadenocarcinoma
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA000528

rs_587782272

8 SubmittersRCV000131124 RCV000786811 RCV001380070 RCV002288645 RCV003992194 RCV005886926 RCV005886927 RCV005886925

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

SNV
Germline/somatic

Chr17:7675070

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA000259

rs_397514495

28 SubmittersRCV000131382 RCV000168247 RCV000255239 RCV000576528 RCV000989718 RCV001391195 RCV001527471 RCV003462011 RCV005089647 RCV004745211

NM_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.541C>T (p.Arg181Cys)

SNV
Germline/somatic

Chr17:7675071

Likely pathogenic

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

Reviewed By Expert Panel

CA000257

rs_587782596

12 SubmittersRCV000131943 RCV000168292 RCV000236276 RCV003474780 RCV004544301 RCV006253818 RCV005229969 RCV006633898

NM_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.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
Li-Fraumeni syndrome 1
Condition: not provided
Adrenocortical carcinoma, hereditary
Neoplasm
Clear cell sarcoma

Reviewed By Expert Panel

CA000349

rs_587782664

15 SubmittersRCV000132084 RCV000464261 RCV000581940 RCV000785336 RCV001271055 RCV001527088 RCV001567943 RCV003462031 RCV004668799 RCV006253819

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

SNV
Germline/somatic

Chr17:7675157

Pathogenic

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Condition: not provided
Li-Fraumeni syndrome 1
Familial cancer of breast
Squamous cell carcinoma of the head and neck
Lip and oral cavity carcinoma
Adrenocortical carcinoma, hereditary
Neoplasm
TP53-related disorder
Diffuse glioma, H3 G34 mutant

Reviewed By Expert Panel

CA000204

rs_587782705

21 SubmittersRCV000132156 RCV000168122 RCV000583667 RCV000677669 RCV000755703 RCV001270267 RCV001255632 RCV003462034 RCV004668801 RCV004797600 RCV006253820

NM_133433.4(NIPBL):c.64+1G>A

SNV
Germline

Chr5:36953761

Pathogenic

Cornelia de Lange syndrome 1
Adrenocortical carcinoma, hereditary

Criteria Provided
Multiple Submitters
No Conflicts

CA333508

rs_587784009

6 SubmittersRCV000146685 RCV005888171

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

SNV
Germline/somatic

Chr17:7675131

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA000234

rs_193920817

9 SubmittersRCV000149053 RCV000161027 RCV000214033 RCV000473543 RCV000761073 RCV000785328 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
Rhabdomyosarcoma
Breast and/or ovarian cancer
Prostate cancer
Glioma susceptibility 1
Li-Fraumeni syndrome 1
TP53-related disorder
Adrenocortical carcinoma, hereditary
Colon adenocarcinoma
Squamous cell carcinoma of the head and neck
Squamous cell lung carcinoma
Acute myeloid leukemia
Lung cancer
Neoplasm
Melanoma
Nonpapillary renal cell carcinoma
Diffuse midline glioma, H3 K27M-mutant

Criteria Provided
Multiple Submitters
No Conflicts

CA000144

rs_55863639

25 SubmittersRCV000154460 RCV000218743 RCV000483667 RCV001257525 RCV001271053 RCV001527480 RCV001530197 RCV002288665 RCV003398806 RCV003462060 RCV005888475 RCV005888476 RCV005888477 RCV005888478 RCV005888481 RCV004668810 RCV005888480 RCV005888479 RCV006253842

NM_001330078.2(NRXN1):c.569A>G (p.Asn190Ser)

SNV
Germline

Chr2:51027705

Conflicting classifications of pathogenicity

not specified
Pitt-Hopkins-like syndrome 2
Pitt-Hopkins-like syndrome 2
Chromosome 2p16.3 deletion syndrome
Condition: not provided
Intellectual disability
Inborn genetic diseases
Adrenocortical carcinoma, hereditary

Criteria Provided
Conflicting Classifications

CA234426

rs_200792504

12 SubmittersRCV000188273 RCV000473936 RCV000515306 RCV000723758 RCV001251857 RCV002312998 RCV005888428

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
Neoplasm
TP53-related disorder
Medulloblastoma SHH activated
Diffuse midline glioma, H3 K27M-mutant
Diffuse glioma, H3 G34 mutant
Primary intracranial sarcoma, DICER1-mutant

Criteria Provided
Multiple Submitters
No Conflicts

CA000019

rs_730882029

26 SubmittersRCV000161074 RCV000213069 RCV000549233 RCV000785301 RCV001374440 RCV001554321 RCV002288707 RCV002492644 RCV003474838 RCV005230001 RCV004797601 RCV006253854 RCV006253852 RCV006253855 RCV006253853

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.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

15 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
Li-Fraumeni syndrome
Ovarian neoplasm
Hereditary cancer-predisposing syndrome
Adrenocortical carcinoma, hereditary
Li-Fraumeni syndrome 1
Rhabdomyosarcoma
Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype
Diffuse midline glioma, H3 K27M-mutant
Neoplasm

Criteria Provided
Multiple Submitters
No Conflicts

CA000148

rs_730881999

12 SubmittersRCV000161024 RCV000606528 RCV000633384 RCV000785332 RCV003162681 RCV003474836 RCV004019945 RCV006253848 RCV006253849 RCV006253850 RCV006273577

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

SNV
Germline/somatic

Chr17:7673790

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA000438

rs_763098116

10 SubmittersRCV000165199 RCV000254809 RCV000456858 RCV001357202 RCV003474865 RCV005230009

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
Diffuse midline glioma, H3 K27M-mutant

Criteria Provided
Multiple Submitters
No Conflicts

CA000274

rs_786201838

10 SubmittersRCV000164329 RCV000255425 RCV000429618 RCV000460847 RCV000785346 RCV002288732 RCV003474857 RCV006253862

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

10 SubmittersRCV000166045 RCV000255616 RCV000461158 RCV001354219 RCV002288754 RCV003407616 RCV003474872 RCV003128588 RCV003995473

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

SNV
Germline/somatic

Chr17:7675199

Likely pathogenic

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Adrenal cortex carcinoma
Adrenocortical carcinoma, hereditary
Li-Fraumeni syndrome 1
Neoplasm
Choroid plexus carcinoma
Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype

Reviewed By Expert Panel

CA000168

rs_750600586

8 SubmittersRCV000164195 RCV000813957 RCV003995323 RCV003474852 RCV004019963 RCV006273593 RCV006253860 RCV006253861

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
Neoplasm
Familial pancreatic carcinoma
Li-Fraumeni syndrome 1
Diffuse midline glioma, H3 K27M-mutant

Criteria Provided
Conflicting Classifications

CA000140

rs_786201057

20 SubmittersRCV000162461 RCV000237013 RCV000457119 RCV000576336 RCV003462117 RCV004797602 RCV004668821 RCV005365056 RCV006253857

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_152564.5(VPS13B):c.1559A>G (p.His520Arg)

SNV
Germline

Chr8:99135729

Conflicting classifications of pathogenicity

not specified
Cohen syndrome
Condition: not provided
Inborn genetic diseases
VPS13B-related disorder
Gastric cancer
Ovarian serous cystadenocarcinoma
Adrenocortical carcinoma, hereditary

Criteria Provided
Conflicting Classifications

CA239617

rs_143205296

14 SubmittersRCV000239145 RCV000375746 RCV000426832 RCV002399624 RCV003982923 RCV005889734 RCV005889735 RCV005889733

NM_021939.4(FKBP10):c.246-5C>G

SNV
Germline

Chr17:41817053

Conflicting classifications of pathogenicity

Condition: not provided
Osteogenesis imperfecta type 11
Osteogenesis imperfecta
not specified
FKBP10-related disorder
Acute myeloid leukemia
Adrenocortical carcinoma, hereditary
Clear cell carcinoma of kidney
Malignant tumor of esophagus

Criteria Provided
Conflicting Classifications

CA241786

rs_140027863

10 SubmittersRCV000175935 RCV000329828 RCV002277369 RCV003330535 RCV003947491 RCV005889845 RCV005889847 RCV005889848 RCV005889846

NM_006214.4(PHYH):c.734G>A (p.Arg245Gln)

SNV
Germline

Chr10:13283784

Conflicting classifications of pathogenicity

not specified
Phytanic acid storage disease
Nonsyndromic cleft lip palate
Condition: not provided
Vitamin D-dependent rickets type II with alopecia
Retinal dystrophy
Gastric cancer
Melanoma
Acute myeloid leukemia
Nonpapillary renal cell carcinoma
Adrenocortical carcinoma, hereditary

Criteria Provided
Conflicting Classifications

CA203488

rs_62619919

15 SubmittersRCV000179914 RCV000665931 RCV000755125 RCV000950185 RCV001258288 RCV004816303 RCV005892046 RCV005892047 RCV005892043 RCV005892044 RCV005892045

NM_000158.4(GBE1):c.691+2T>C

SNV
Germline

Chr3:81648854

Pathogenic/Likely pathogenic

Glycogen storage disease, type IV
Condition: not provided
GBE1-related disorder
Adult polyglucosan body disease
Glycogen storage disease, type IV
Glycogen storage disease, type IV
Glycogen storage disease IV, classic hepatic
Glycogen storage disease
Adult polyglucosan body disease
Inborn genetic diseases
Acute myeloid leukemia
Familial cancer of breast
Sarcoma
Adrenocortical carcinoma, hereditary
Arthrogryposis syndrome
Dementia
Clear cell carcinoma of kidney
Familial pancreatic carcinoma

Criteria Provided
Multiple Submitters
No Conflicts

CA276004

rs_192044702

35 SubmittersRCV000190589 RCV000224184 RCV000368399 RCV000660553 RCV000706641 RCV001449661 RCV003388833 RCV004020302 RCV005892214 RCV005892213 RCV005892218 RCV005892215 RCV005621909 RCV005625419 RCV005892216 RCV005892217

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

Criteria Provided
Multiple Submitters
No Conflicts

CA337141

rs_863224451

14 SubmittersRCV000197359 RCV000235315 RCV000568594 RCV000785533 RCV001610519 RCV002288809 RCV003320135 RCV003468892 RCV004668842

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
Glioma susceptibility 1
Ovarian serous cystadenocarcinoma
Squamous cell lung carcinoma
Melanoma

Criteria Provided
Multiple Submitters
No Conflicts

CA339249

rs_863224499

10 SubmittersRCV000200333 RCV000786828 RCV002288813 RCV002288814 RCV004668847 RCV003474954 RCV005893583 RCV005893585 RCV005893584 RCV005893586

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

SNV
Germline/somatic

Chr17:7674947

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA002232

rs_760043106

17 SubmittersRCV000198789 RCV000421097 RCV000487386 RCV001024600 RCV000785324 RCV001271054 RCV002288812 RCV003474953 RCV005361139 RCV004668846 RCV004725053 RCV006253879

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

SNV
Germline

Chr17:7673805

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10580918

rs_876660333

4 SubmittersRCV000220536 RCV004020685 RCV002515714 RCV005860042

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

SNV
Germline/somatic

Chr17:7674220

Pathogenic

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

Reviewed By Expert Panel

CA10580924

rs_11540652

7 SubmittersRCV000219834 RCV000991149 RCV003475005 RCV004020650 RCV006273642

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
Pancreatic adenocarcinoma
Nonpapillary renal cell carcinoma

Criteria Provided
Conflicting Classifications

CA10580926

rs_876660807

8 SubmittersRCV000223044 RCV000560536 RCV001355898 RCV003137828 RCV003475037 RCV004020697 RCV005895060 RCV005895059

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

SNV
Germline/somatic

Chr17:7676040

Pathogenic

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1
Adrenocortical carcinoma, hereditary
Familial cancer of breast
IDH-wildtype glioblastoma
Astrocytoma, IDH-mutant, grade 3
Neoplasm

Reviewed By Expert Panel

CA10580948

rs_11540654

9 SubmittersRCV000222678 RCV000231991 RCV002288889 RCV003462528 RCV004698486 RCV006253917 RCV006253918 RCV006273660

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

Criteria Provided
Conflicting Classifications

CA10575441

rs_730882008

14 SubmittersRCV000226273 RCV000235474 RCV000492420 RCV000767028 RCV000709768 RCV001357626 RCV003463657 RCV003483584

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

SNV
Germline/somatic

Chr17:7675994

Pathogenic/Likely pathogenic

Li-Fraumeni syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1
Squamous cell carcinoma of the head and neck
Squamous cell lung carcinoma
Adrenocortical carcinoma, hereditary
Papillary renal cell carcinoma type 1
Melanoma
Malignant tumor of urinary bladder
Malignant tumor of esophagus
Neoplasm
Colon adenocarcinoma
Glioma susceptibility 1
Lung cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA10575452

rs_55863639

6 SubmittersRCV000229813 RCV000786841 RCV002347868 RCV004020764 RCV005895195 RCV005895197 RCV005895201 RCV005895198 RCV005895202 RCV005895199 RCV005895200 RCV005230142 RCV005895194 RCV005895196 RCV005895203

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

Criteria Provided
Conflicting Classifications

CA10588670

rs_121912656

6 SubmittersRCV000255018 RCV002379095 RCV003995742 RCV003509522 RCV004567808 RCV006273690

NM_001136193.2(FASTKD2):c.882-3C>T

SNV
Germline

Chr2:206771179

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
Adrenocortical carcinoma, hereditary

Criteria Provided
Conflicting Classifications

CA2074994

rs_41272661

5 SubmittersRCV000282029 RCV005831577 RCV005895636

NM_001395413.1(POR):c.633-5C>G

SNV
Germline

Chr7:75981512

Conflicting classifications of pathogenicity

Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
Condition: not provided
Clear cell carcinoma of kidney
Sarcoma
Nonpapillary renal cell carcinoma
Adrenocortical carcinoma, hereditary

Criteria Provided
Conflicting Classifications

CA4303768

rs_72555509

6 SubmittersRCV000317406 RCV001692046 RCV005899263 RCV005899264 RCV005899261 RCV005899262

NM_001081.4(CUBN):c.10119C>A (p.Val3373=)

SNV
Germline

Chr10:16836296

Conflicting classifications of pathogenicity

Imerslund-Grasbeck syndrome type 1
Imerslund-Grasbeck syndrome
Condition: not provided
CUBN-related disorder
Thyroid cancer, nonmedullary, 1
Adrenocortical carcinoma, hereditary
Melanoma
Ovarian serous cystadenocarcinoma

Criteria Provided
Conflicting Classifications

CA5422474

rs_139596037

7 SubmittersRCV000267153 RCV000638876 RCV001797077 RCV003967858 RCV005891805 RCV005891803 RCV005891806 RCV005891804

NM_022081.6(HPS4):c.751A>T (p.Thr251Ser)

SNV
Germline

Chr22:26465507

Conflicting classifications of pathogenicity

not specified
Hermansky-Pudlak syndrome 4
Oculocutaneous albinism
Condition: not provided
Uveal melanoma
Colorectal cancer
Thyroid cancer, nonmedullary, 1
Hepatocellular carcinoma
Adrenocortical carcinoma, hereditary
Lung cancer
Cervical cancer
Clear cell carcinoma of kidney
Malignant lymphoma, large B-cell, diffuse
Melanoma
Malignant tumor of esophagus
Sarcoma
Gastric cancer
Ovarian serous cystadenocarcinoma
Thymoma

Criteria Provided
Conflicting Classifications

CA10163504

rs_34962745

7 SubmittersRCV000614234 RCV000856673 RCV000767301 RCV000950297 RCV005897534 RCV005897536 RCV005897541 RCV005897529 RCV005897531 RCV005897543 RCV005897532 RCV005897533 RCV005897535 RCV005897542 RCV005897530 RCV005897537 RCV005897538 RCV005897539 RCV005897540

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

SNV
Germline/somatic

Chr17:7675094

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Adrenocortical carcinoma, hereditary
Diffuse glioma, H3 G34 mutant
Squamous cell carcinoma of the head and neck
Colorectal cancer
Malignant tumor of esophagus

Criteria Provided
Conflicting Classifications

CA16602485

rs_1057519747

4 SubmittersRCV000807434 RCV003463825 RCV006253969 RCV005900728 RCV005900730 RCV005900729

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

SNV
Germline/somatic

Chr17:7673778

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA16603011

rs_587781525

4 SubmittersRCV003463826 RCV005286077 RCV006254031 RCV006462615

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

SNV
Germline

Chr17:7673811

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA16603019

rs_1057519986

6 SubmittersRCV001805037 RCV002508212 RCV002524696 RCV003470375 RCV004022213 RCV005900738

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
Diffuse midline glioma, H3 K27M-mutant
Juvenile type testicular granulosa cell tumor

Criteria Provided
Multiple Submitters
No Conflicts

CA16603022

rs_1057519989

11 SubmittersRCV000492366 RCV000633372 RCV001257520 RCV002289524 RCV003168616 RCV003332172 RCV003476007 RCV004668954 RCV006254033 RCV006254034

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
Li-Fraumeni syndrome 1
Adrenocortical carcinoma, hereditary
Neoplasm

Criteria Provided
Multiple Submitters
No Conflicts

CA001743

rs_121912656

6 SubmittersRCV000558455 RCV001026313 RCV001548147 RCV002289525 RCV003476008 RCV004668955

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

SNV
Germline/somatic

Chr17:7675076

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA16603029

rs_1057519991

7 SubmittersRCV000705316 RCV002348143 RCV003476009 RCV004721352 RCV004022217 RCV006273740

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

SNV
Germline/somatic

Chr17:7675077

Pathogenic/Likely pathogenic

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1
Adrenocortical carcinoma, hereditary
Condition: not provided
Diffuse glioma, H3 G34 mutant

Criteria Provided
Multiple Submitters
No Conflicts

CA16603031

rs_587780070

6 SubmittersRCV001851020 RCV002348144 RCV003335320 RCV003470376 RCV005230303 RCV006254038

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

SNV
Germline/somatic

Chr17:7675217

Pathogenic/Likely pathogenic

Li-Fraumeni syndrome
Ovarian neoplasm
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1
TP53-related disorder
Neoplasm
12 conditions
Adrenocortical carcinoma, hereditary
Sarcoma
Ovarian serous cystadenocarcinoma
Lung cancer
Colon adenocarcinoma
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA16603045

rs_1057519996

12 SubmittersRCV000471183 RCV000785521 RCV002356517 RCV004022224 RCV004797608 RCV004668957 RCV005018717 RCV005860074 RCV005900753 RCV005900754 RCV005900755 RCV005900752 RCV005243222

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/somatic

Chr17:7673787

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA16603063

rs_876659802

6 SubmittersRCV000633329 RCV001017582 RCV002289531 RCV004567903 RCV006273742

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
Colorectal cancer
Condition: not provided

Criteria Provided
Conflicting Classifications

CA16603073

rs_753660142

8 SubmittersRCV000568150 RCV000706131 RCV000785300 RCV003476010 RCV004022240 RCV006250173 RCV006259888

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

SNV
Germline/somatic

Chr17:7674887

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Adrenocortical carcinoma, hereditary
Li-Fraumeni syndrome 1
not specified
Diffuse midline glioma, H3 K27M-mutant

Criteria Provided
Conflicting Classifications

CA16603077

rs_587782177

6 SubmittersRCV000492171 RCV000816006 RCV003476011 RCV004022241 RCV005418106 RCV006254048

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

SNV
Germline

Chr17:7675125

Pathogenic

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

Reviewed By Expert Panel

CA16603094

rs_786203436

5 SubmittersRCV001023195 RCV001071488 RCV002289543 RCV003476012

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

SNV
Germline/somatic

Chr17:7674873

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA002135

rs_530941076

8 SubmittersRCV000566866 RCV000785254 RCV001215103 RCV003476013 RCV004022253

NM_198428.3(BBS9):c.2258A>T (p.Glu753Val)

SNV
Germline

Chr7:33505605

Conflicting classifications of pathogenicity

Condition: not provided
Bardet-Biedl syndrome
Bardet-Biedl syndrome 9
Inborn genetic diseases
BBS9-related disorder
Retinal dystrophy
Sarcoma
Clear cell carcinoma of kidney
Ovarian serous cystadenocarcinoma
Adrenocortical carcinoma, hereditary
Lung cancer
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA4214639

rs_61764068

9 SubmittersRCV000417647 RCV001083313 RCV001165275 RCV002521642 RCV003912685 RCV004816660 RCV005896668 RCV005896667 RCV005896669 RCV005896666 RCV005896670 RCV005896665

NM_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_032444.4(SLX4):c.2305G>C (p.Glu769Gln)

SNV
Germline

Chr16:3592721

Conflicting classifications of pathogenicity

Fanconi anemia
Fanconi anemia complementation group P
not specified
Condition: not provided
SLX4-related disorder
Gastric cancer
Adrenocortical carcinoma, hereditary
Lung cancer

Criteria Provided
Conflicting Classifications

CA7866204

rs_150712805

14 SubmittersRCV000463301 RCV001121834 RCV001821253 RCV001796060 RCV003902645 RCV005899467 RCV005899466 RCV005899468

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/somatic

Chr17:7676210

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA16620640

rs_1064794618

8 SubmittersRCV000480240 RCV001012297 RCV001236368 RCV002289632 RCV003464011 RCV005230944

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.559+1G>A

SNV
Germline

Chr17:7675052

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
11 conditions
Condition: not provided
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1
Adrenocortical carcinoma, hereditary
Familial cancer of breast
Colorectal cancer
Squamous cell lung carcinoma
Ovarian serous cystadenocarcinoma
Melanoma
Colon adenocarcinoma
Malignant tumor of esophagus

Criteria Provided
Multiple Submitters
No Conflicts

CA397841068

rs_1131691042

10 SubmittersRCV000492159 RCV000763418 RCV000786834 RCV001210960 RCV002289678 RCV003476180 RCV005899768 RCV005899772 RCV005899770 RCV005899773 RCV005899774 RCV005899769 RCV005899771

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

SNV
Germline/somatic

Chr17:7676056

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA397844735

rs_1060501195

5 SubmittersRCV000492331 RCV002289669 RCV001379190 RCV005860088 RCV004003474

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

SNV
Germline

Chr17:7675134

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA397841976

rs_377274728

6 SubmittersRCV000513585 RCV000570720 RCV001051011 RCV004568658 RCV005356043

NM_014140.4(SMARCAL1):c.1851+5G>A

SNV
Germline

Chr2:216447163

Conflicting classifications of pathogenicity

Schimke immuno-osseous dysplasia
Condition: not provided
SMARCAL1-related disorder
Adrenocortical carcinoma, hereditary
Thymoma

Criteria Provided
Conflicting Classifications

CA2098018

rs_2066514

6 SubmittersRCV000544902 RCV000593130 RCV003960300 RCV005896746 RCV005896747

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
Embryonal rhabdomyosarcoma

Criteria Provided
Multiple Submitters
No Conflicts

CA397842017

rs_1555526131

7 SubmittersRCV000527533 RCV001764539 RCV002341276 RCV003476227 RCV004669032 RCV004023788 RCV006254099

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.917G>A (p.Arg306Gln)

SNV
Germline

Chr17:7673703

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA287486566

rs_1048095040

11 SubmittersRCV000527123 RCV000561902 RCV000986056 RCV000664300 RCV000989706 RCV003330753 RCV004568752 RCV005357556

NM_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
Neoplasm
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA397837142

rs_1057519990

7 SubmittersRCV000528667 RCV000785497 RCV001027016 RCV002289744 RCV004568751 RCV004669033 RCV004772959

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

SNV
Germline

Chr17:7675224

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA287488714

rs_863224683

5 SubmittersRCV000536061 RCV000759374 RCV000565366 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

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.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.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
Adrenocortical carcinoma, hereditary

Criteria Provided
Conflicting Classifications

CA397842430

rs_587782197

8 SubmittersRCV000565971 RCV000785310 RCV001537369 RCV003621548 RCV004024460 RCV005860110

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

SNV
Germline

Chr17:7675994

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA497926317

rs_55863639

8 SubmittersRCV000570944 RCV002508940 RCV003403351 RCV003509563 RCV003476320 RCV004024459 RCV005898501

NM_000546.6(TP53):c.871A>G (p.Lys291Glu)

SNV
Germline

Chr17:7673749

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA397836583

rs_1555525126

6 SubmittersRCV000575139 RCV000806261 RCV002289802 RCV003459311 RCV006448414

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

SNV
Germline/somatic

Chr17:7673700

Likely pathogenic

Condition: not provided
Colorectal cancer
Li-Fraumeni syndrome 1
Squamous cell carcinoma of the head and neck
Malignant tumor of esophagus
Adrenocortical carcinoma, hereditary
Lung cancer

Criteria Provided
Single Submitter

CA397836242

rs_1131691039

4 SubmittersRCV000786817 RCV004813118 RCV004024666 RCV005898596 RCV005898597 RCV005898598 RCV005898599

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/somatic

Chr17:7675113

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA397841811

rs_1555526097

11 SubmittersRCV000633353 RCV000657587 RCV000663165 RCV001023383 RCV003471978 RCV006273954

NM_001382.4(DPAGT1):c.250A>C (p.Lys84Gln)

SNV
Germline

Chr11:119101050

Conflicting classifications of pathogenicity

Congenital myasthenic syndrome 13
DPAGT1-congenital disorder of glycosylation
Inborn genetic diseases
Adrenocortical carcinoma, hereditary
DPAGT1-congenital disorder of glycosylation

Criteria Provided
Conflicting Classifications

CA6314685

rs_112355069

5 SubmittersRCV000660514 RCV002530576 RCV005901424 RCV005357879

NM_000235.4(LIPA):c.662A>G (p.Asp221Gly)

SNV
Germline

Chr10:89225105

Conflicting classifications of pathogenicity

Condition: not provided
Lysosomal acid lipase deficiency
Wolman disease
Cardiovascular phenotype
LIPA-related disorder
Malignant tumor of urinary bladder
Adrenocortical carcinoma, hereditary
Clear cell carcinoma of kidney
Sarcoma

Criteria Provided
Conflicting Classifications

CA5593658

rs_145163592

7 SubmittersRCV000730763 RCV001080631 RCV001450075 RCV002360730 RCV004535714 RCV005901642 RCV005901643 RCV005901644 RCV005901645

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

SNV
Germline/somatic

Chr17:7675234

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA397843943

rs_1567554500

7 SubmittersRCV000702157 RCV002343542 RCV003472237 RCV003165877 RCV003999725 RCV004026584

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

SNV
Germline

Chr17:7673700

Pathogenic

Li-Fraumeni syndrome 1
Li-Fraumeni syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Adrenocortical carcinoma, hereditary
TP53-related disorder
Ovarian serous cystadenocarcinoma
Malignant tumor of esophagus
Familial cancer of breast
Nonpapillary renal cell carcinoma

Reviewed By Expert Panel

CA397836247

rs_1131691039

11 SubmittersRCV000782136 RCV000991150 RCV001578272 RCV003307417 RCV003992389 RCV004797621 RCV005897417 RCV005897415 RCV005897414 RCV005897416

NM_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

CA397837052

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
Primary intracranial sarcoma, DICER1-mutant
Medulloblastoma SHH activated and TP53 mutant

Criteria Provided
Multiple Submitters
No Conflicts

CA287488024

rs_587782664

7 SubmittersRCV000785508 RCV002370058 RCV003472321 RCV003509608 RCV003332249 RCV006254153 RCV006254154

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

SNV
Germline/somatic

Chr17:7674972

Pathogenic

Ovarian neoplasm
Condition: not provided
Hereditary cancer-predisposing syndrome
Adrenocortical carcinoma, hereditary
Li-Fraumeni syndrome
Neoplasm
Li-Fraumeni syndrome 1
Sarcoma
Ovarian serous cystadenocarcinoma
Uterine carcinosarcoma
Lung cancer
Malignant tumor of urinary bladder
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA397840949

rs_1202793339

8 SubmittersRCV000785507 RCV000786832 RCV001024314 RCV003472320 RCV002535728 RCV004669111 RCV004027349 RCV005901893 RCV005901894 RCV005901895 RCV005901896 RCV005901892 RCV005901891

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

SNV
Germline

Chr17:7675993

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA397844143

rs_1567555445

7 SubmittersRCV000786840 RCV000804919 RCV001021045 RCV002290035 RCV005901927 RCV005901929 RCV005901928 RCV005901930 RCV005901926

NM_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
TP53-related disorder

Criteria Provided
Conflicting Classifications

CA287488988

rs_989692988

7 SubmittersRCV000804275 RCV001020381 RCV002290445 RCV003478506 RCV004569609 RCV005870893

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

SNV
Germline

Chr17:7676283

Pathogenic/Likely pathogenic

Li-Fraumeni syndrome
Adrenocortical carcinoma, hereditary
Uterine corpus endometrial carcinoma

Criteria Provided
Multiple Submitters
No Conflicts

CA656739915

rs_769697802

4 SubmittersRCV000791519 RCV003472330 RCV005901946

NM_001363711.2(DUOX2):c.2835A>G (p.Gly945=)

SNV
Germline

Chr15:45101809

Conflicting classifications of pathogenicity

Condition: not provided
Thyroid dyshormonogenesis 6
Melanoma
Malignant tumor of esophagus
Nonpapillary renal cell carcinoma
Adrenocortical carcinoma, hereditary
Uterine corpus endometrial carcinoma
Clear cell carcinoma of kidney
Colon adenocarcinoma
Sarcoma
Ovarian serous cystadenocarcinoma
Colorectal cancer
Cervical cancer
Gastric cancer
Thyroid cancer, nonmedullary, 1
Lung cancer

Criteria Provided
Conflicting Classifications

CA7538136

rs_112428007

5 SubmittersRCV000953337 RCV001121401 RCV005907862 RCV005907852 RCV005907853 RCV005907854 RCV005907864 RCV005907856 RCV005907851 RCV005907858 RCV005907860 RCV005907857 RCV005907855 RCV005907859 RCV005907861 RCV005907863

NM_001082971.2(DDC):c.715A>T (p.Met239Leu)

SNV
Germline

Chr7:50504059

Conflicting classifications of pathogenicity

Deficiency of aromatic-L-amino-acid decarboxylase
Malignant tumor of esophagus
Adrenocortical carcinoma, hereditary

Criteria Provided
Conflicting Classifications

CA4262269

rs_11575376

3 SubmittersRCV000974672 RCV005910737 RCV005910738

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.1048C>G (p.Leu350Val)

SNV
Germline

Chr17:7670661

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA000823

rs_768046010

5 SubmittersRCV001059236 RCV002402425 RCV003462579

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_018474.6(KIZ):c.1678+2T>C

SNV
Germline

Chr20:21215650

Likely pathogenic

Condition: not provided
Adrenocortical carcinoma, hereditary

Criteria Provided
Single Submitter

CA9784940

rs_754547088

2 SubmittersRCV001208721 RCV005909001

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_024120.5(NDUFAF5):c.480-3T>G

SNV
Germline

Chr20:13798458

Conflicting classifications of pathogenicity

Leigh syndrome
Condition: not provided
Mitochondrial complex I deficiency, nuclear type 16
NDUFAF5-related disorder
Ovarian serous cystadenocarcinoma
Thymoma
Adrenocortical carcinoma, hereditary

Criteria Provided
Conflicting Classifications

CA9767782

rs_749288299

5 SubmittersRCV001279569 RCV001773584 RCV003469500 RCV004758155 RCV005910825 RCV005910826 RCV005910824

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

SNV
Germline

Chr17:7673533

Pathogenic/Likely pathogenic

Condition: not provided
Li-Fraumeni syndrome
Adrenocortical carcinoma, hereditary
Ovarian serous cystadenocarcinoma
Gastric cancer
Squamous cell lung carcinoma
Hepatocellular carcinoma

Criteria Provided
Multiple Submitters
No Conflicts

CA397835629

rs_1597359053

4 SubmittersRCV001553782 RCV003621596 RCV004571059 RCV005916224 RCV005916223 RCV005916221 RCV005916222

NM_001378454.1(ALMS1):c.10078+1G>T

SNV
Germline

Chr2:73550438

Conflicting classifications of pathogenicity

Alstrom syndrome
Cardiovascular phenotype
Adrenocortical carcinoma, hereditary

Criteria Provided
Conflicting Classifications

CA1714860

rs_765075310