Total 106 pathogenic variants reported for Adrenocortical carcinoma

Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_000546.6(TP53):c.742C>T (p.Arg248Trp)	SNV Germline/somatic	Chr17:7674221	Pathogenic	Li-Fraumeni syndrome 1 Li-Fraumeni syndrome Brainstem glioma Hereditary cancer-predisposing syndrome Ovarian serous cystadenocarcinoma Myelodysplastic syndrome Condition: not provided Squamous cell lung carcinoma Neoplasm Acute myeloid leukemia Lung adenocarcinoma Glioblastoma Squamous cell carcinoma of the head and neck B-cell chronic lymphocytic leukemia Carcinoma of esophagus Multiple myeloma Uterine carcinosarcoma Hepatocellular carcinoma Gastric adenocarcinoma Pancreatic adenocarcinoma Transitional cell carcinoma of the bladder Medulloblastoma Neoplasm of ovary 7 conditions Small cell lung carcinoma Prostate adenocarcinoma Breast neoplasm Neoplasm of brain Lip and oral cavity carcinoma Neoplasm of the large intestine Malignant neoplasm of body of uterus Squamous cell carcinoma of the skin Malignant melanoma of skin Choroid plexus carcinoma Gallbladder cancer Breast and/or ovarian cancer Congenital fibrosarcoma Gastric cancer Malignant lymphoma, large B-cell, diffuse Adrenocortical carcinoma, hereditary	Reviewed By Expert Panel	CA000382	rs_121912651	30 SubmittersRCV000013140 RCV000168242 RCV000424308 RCV000115735 RCV000424415 RCV000425083 RCV000213057 RCV000434504 RCV000438698 RCV000418495 RCV000419032 RCV000419150 RCV000423184 RCV000423804 RCV000429884 RCV000431508 RCV000431689 RCV000435803 RCV000430543 RCV000444845 RCV000436398 RCV000440560 RCV000785485 RCV000735293 RCV000419857 RCV000425682 RCV000429777 RCV000433905 RCV001255674 RCV000440422 RCV000441091 RCV000441557 RCV000442243 RCV001271100 RCV001374442 RCV003149569 RCV003105772 RCV003162243 RCV003318332 RCV003460463
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 Prostate adenocarcinoma Glioblastoma Brainstem glioma Gastric adenocarcinoma Ovarian serous cystadenocarcinoma Breast neoplasm Neoplasm of brain Squamous cell carcinoma of the head and neck Pancreatic adenocarcinoma Lung adenocarcinoma Transitional cell carcinoma of the bladder Squamous cell lung carcinoma Li-Fraumeni syndrome Neoplasm of the large intestine Uterine carcinosarcoma Hepatocellular carcinoma Carcinoma of esophagus Neoplasm of ovary Condition: not provided Adrenocortical carcinoma, hereditary	Criteria Provided Multiple Submitters No Conflicts	CA000371	rs_121912656	10 SubmittersRCV000013149 RCV000164465 RCV000422520 RCV000427250 RCV000432021 RCV000444212 RCV000419718 RCV000421831 RCV000426192 RCV000429017 RCV000421349 RCV000436871 RCV000440814 RCV000444304 RCV000206683 RCV000431450 RCV000437916 RCV000439739 RCV000443515 RCV000785472 RCV000986053 RCV003473082
NM_000546.6(TP53):c.743G>A (p.Arg248Gln)	SNV Germline/somatic	Chr17:7674220	Pathogenic	Li-Fraumeni syndrome 1 Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Sarcoma Breast neoplasm Small cell lung carcinoma Neoplasm of the large intestine Multiple myeloma Medulloblastoma Uterine carcinosarcoma Myelodysplastic syndrome Malignant melanoma of skin Ovarian serous cystadenocarcinoma Neoplasm of brain Transitional cell carcinoma of the bladder B-cell chronic lymphocytic leukemia Acute myeloid leukemia Carcinoma of esophagus Hepatocellular carcinoma Pancreatic adenocarcinoma Neoplasm Glioblastoma Brainstem glioma Malignant neoplasm of body of uterus Squamous cell carcinoma of the head and neck Condition: not provided Prostate adenocarcinoma Gastric adenocarcinoma Squamous cell carcinoma of the skin Neoplasm of ovary Squamous cell lung carcinoma Lung adenocarcinoma 11 conditions Lymphoma Familial cancer of breast Ductal carcinoma in situ Breast carcinoma Colorectal cancer Lip and oral cavity carcinoma Rhabdomyosarcoma Adrenal cortex carcinoma Gastric cancer Malignant tumor of urinary bladder Adrenocortical carcinoma, hereditary	Reviewed By Expert Panel	CA000387	rs_11540652	39 SubmittersRCV000013150 RCV000115736 RCV000197114 RCV000148913 RCV000419135 RCV000420303 RCV000421893 RCV000424869 RCV000427709 RCV000432587 RCV000437935 RCV000420727 RCV000421194 RCV000426359 RCV000432778 RCV000435533 RCV000417916 RCV000437291 RCV000438410 RCV000439963 RCV000426606 RCV000445244 RCV000433424 RCV000437518 RCV000444656 RCV000235221 RCV000426233 RCV000428591 RCV000430513 RCV000785344 RCV000441226 RCV000445235 RCV000763417 RCV000790860 RCV001270275 RCV001527465 RCV001554245 RCV001789749 RCV001255671 RCV001257519 RCV003996090 RCV003162244 RCV003332079 RCV003466852
NM_000546.6(TP53):c.844C>T (p.Arg282Trp)	SNV Germline/somatic	Chr17:7673776	Pathogenic/Likely pathogenic	Li-fraumeni-like syndrome Li-Fraumeni syndrome 1 Li-Fraumeni syndrome Condition: not provided Non-Hodgkin lymphoma Malignant melanoma of skin Glioblastoma Prostate adenocarcinoma Breast neoplasm Gastric adenocarcinoma Squamous cell carcinoma of the head and neck Papillary renal cell carcinoma type 1 Malignant neoplasm of body of uterus Ovarian serous cystadenocarcinoma Transitional cell carcinoma of the bladder Squamous cell lung carcinoma Lung adenocarcinoma Neoplasm of the large intestine Hepatocellular carcinoma Carcinoma of esophagus Neoplasm of brain Hereditary cancer-predisposing syndrome Neoplasm of ovary Pleomorphic xanthoastrocytoma Astrocytoma, anaplastic Squamous cell carcinoma of the skin Pancreatic adenocarcinoma Colorectal cancer Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype Adrenocortical carcinoma, hereditary	Criteria Provided Multiple Submitters No Conflicts	CA000454	rs_28934574	31 SubmittersRCV000013161 RCV000144670 RCV000148905 RCV000236400 RCV000417906 RCV000420798 RCV000422920 RCV000426680 RCV000433225 RCV000435581 RCV000441472 RCV000442231 RCV000444687 RCV000425909 RCV000432561 RCV000423580 RCV000437607 RCV000430759 RCV000431084 RCV000436175 RCV000444544 RCV000210145 RCV000785546 RCV000722016 RCV000424430 RCV000434706 RCV001270278 RCV003315223 RCV004566738
NM_000546.6(TP53):c.733G>A (p.Gly245Ser)	SNV Germline/somatic	Chr17:7674230	Pathogenic	Li-fraumeni-like syndrome Adenocarcinoma Condition: not provided Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1 Lung adenocarcinoma Transitional cell carcinoma of the bladder Ovarian serous cystadenocarcinoma Squamous cell carcinoma of the head and neck Uterine carcinosarcoma Carcinoma of esophagus Brainstem glioma Squamous cell lung carcinoma Neoplasm of brain Gastric adenocarcinoma Pancreatic adenocarcinoma Li-Fraumeni syndrome Atypical teratoid rhabdoid tumor Astrocytoma, anaplastic Prostate adenocarcinoma Glioblastoma Neoplasm Breast neoplasm Hepatocellular carcinoma Neoplasm of the large intestine Neoplasm of ovary Familial ovarian cancer Breast carcinoma Colorectal cancer 12 conditions Malignant tumor of urinary bladder Adrenocortical carcinoma, hereditary Gastric cancer TP53-related disorder Xeroderma pigmentosum Multiple acyl-CoA dehydrogenase deficiency	Reviewed By Expert Panel	CA000367	rs_28934575	31 SubmittersRCV000013162 RCV000148909 RCV000154014 RCV000130147 RCV000144669 RCV000421457 RCV000432898 RCV000442506 RCV000419767 RCV000426307 RCV000428113 RCV000438107 RCV000426990 RCV000430925 RCV000432120 RCV000437643 RCV000226657 RCV000587017 RCV000588736 RCV000417419 RCV000420452 RCV000425581 RCV000436979 RCV000438801 RCV000442529 RCV000785316 RCV001354825 RCV001642222 RCV001270274 RCV002496337 RCV003332080 RCV003460464 RCV003162245 RCV003914832 RCV004540999 RCV004526594
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 Multiple myeloma Ovarian serous cystadenocarcinoma Transitional cell carcinoma of the bladder Malignant melanoma of skin Carcinoma of esophagus Small cell lung carcinoma Squamous cell lung carcinoma Squamous cell carcinoma of the head and neck Prostate adenocarcinoma Neoplasm of brain Pancreatic adenocarcinoma B-cell chronic lymphocytic leukemia Acute myeloid leukemia Adrenal cortex carcinoma Breast neoplasm Li-Fraumeni syndrome Lung adenocarcinoma Brainstem glioma Glioblastoma Neoplasm Gastric adenocarcinoma Uterine carcinosarcoma Malignant neoplasm of body of uterus Medulloblastoma Hepatocellular carcinoma Neoplasm of the large intestine Neoplasm of ovary Malignant tumor of breast Familial cancer of breast Multiple myeloma Colorectal cancer Rhabdomyosarcoma 12 conditions Gastric cancer Breast and/or ovarian cancer Adrenocortical carcinoma, hereditary	Reviewed By Expert Panel	CA000434	rs_28934576	35 SubmittersRCV000013163 RCV000013164 RCV000115738 RCV000254693 RCV000424833 RCV000428779 RCV000429822 RCV000433409 RCV000435547 RCV000437210 RCV000418930 RCV000422097 RCV000422733 RCV000424218 RCV000439513 RCV000424109 RCV000440815 RCV000424627 RCV000443907 RCV000463420 RCV000431361 RCV000434044 RCV000436207 RCV000441169 RCV000419960 RCV000423826 RCV000430161 RCV000440474 RCV000444851 RCV000444900 RCV000785345 RCV001358389 RCV001527484 RCV001527470 RCV001257517 RCV002476955 RCV003162246 RCV003492292 RCV003466853
NM_000546.6(TP53):c.451C>A (p.Pro151Thr)	SNV Germline/somatic	Chr17:7675161	Pathogenic/Likely pathogenic	Breast adenocarcinoma Hereditary cancer-predisposing syndrome Ovarian serous cystadenocarcinoma Carcinoma of esophagus Adenoid cystic carcinoma Neoplasm of brain Breast neoplasm Lung adenocarcinoma Uterine carcinosarcoma Malignant neoplasm of body of uterus Malignant melanoma of skin Gastric adenocarcinoma Condition: not provided Neoplasm of the large intestine Squamous cell carcinoma of the head and neck Hepatocellular carcinoma Li-Fraumeni syndrome Rhabdomyosarcoma Squamous cell lung carcinoma Multiple myeloma Transitional cell carcinoma of the bladder Pancreatic adenocarcinoma Li-Fraumeni syndrome 1 Adrenocortical carcinoma, hereditary	Criteria Provided Multiple Submitters No Conflicts	CA000198	rs_28934874	9 SubmittersRCV000013168 RCV000130617 RCV000423161 RCV000424222 RCV000428384 RCV000428836 RCV000437544 RCV000433405 RCV000435159 RCV000443817 RCV000417493 RCV000418145 RCV000520731 RCV000425139 RCV000429500 RCV000442802 RCV000691152 RCV001257524 RCV000422094 RCV000434485 RCV000439740 RCV000440812 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 Condition: not provided Malignant tumor of esophagus Neoplasm Breast neoplasm Li-Fraumeni syndrome Neoplasm of ovary Colorectal cancer Lip and oral cavity carcinoma Squamous cell carcinoma of the head and neck Familial cancer of breast 12 conditions Adrenocortical carcinoma, hereditary Gastric cancer	Criteria Provided Multiple Submitters No Conflicts	CA000251	rs_28934578	28 SubmittersRCV000013173 RCV000131301 RCV000213054 RCV000239398 RCV000421746 RCV000428918 RCV000204931 RCV000785352 RCV001270269 RCV001255668 RCV001270268 RCV001527463 RCV002476956 RCV003466854 RCV003162247
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	6 SubmittersRCV000013174 RCV000991141 RCV002390102 RCV003473083 RCV003996091
NM_000546.6(TP53):c.1010G>A (p.Arg337His)	SNV Germline	Chr17:7670699	Pathogenic/Likely pathogenic	Adrenocortical carcinoma, pediatric Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Breast neoplasm Li-Fraumeni syndrome 1 Condition: not provided Squamous cell carcinoma of the head and neck Hereditary breast ovarian cancer syndrome Gastric cancer Adrenocortical carcinoma, hereditary 12 conditions	Criteria Provided Multiple Submitters No Conflicts	CA000013	rs_121912664	21 SubmittersRCV000013178 RCV000128923 RCV000197240 RCV000413754 RCV000576817 RCV000481814 RCV000989700 RCV002307364 RCV003162248 RCV001375632 RCV002496338
NM_000546.6(TP53):c.854A>T (p.Glu285Val)	SNV Germline	Chr17:7673766	Pathogenic	Adrenocortical carcinoma, pediatric Choroid plexus carcinoma Li-Fraumeni syndrome	Criteria Provided Single Submitter	CA000463	rs_121912667	2 SubmittersRCV000013184 RCV000013185 RCV000813961
NM_000546.6(TP53):c.586C>T (p.Arg196Ter)	SNV Germline/somatic	Chr17:7674945	Pathogenic	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Condition: not provided Neoplasm of ovary not specified Li-Fraumeni syndrome 1 Adrenocortical carcinoma, hereditary	Criteria Provided Multiple Submitters No Conflicts	CA000282	rs_397516435	18 SubmittersRCV000131510 RCV000205265 RCV000412710 RCV000785329 RCV001527464 RCV002288535 RCV003473274
NM_000546.6(TP53):c.817C>T (p.Arg273Cys)	SNV Germline/somatic	Chr17:7673803	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1 Malignant tumor of prostate Li-Fraumeni syndrome Condition: not provided Breast neoplasm Neoplasm Hepatocellular carcinoma Acute myeloid leukemia Neoplasm of ovary Adrenocortical carcinoma, hereditary	Criteria Provided Multiple Submitters No Conflicts	CA000432	rs_121913343	19 SubmittersRCV000131966 RCV000144665 RCV000149051 RCV000205625 RCV000254692 RCV000421090 RCV000431786 RCV000432002 RCV000442470 RCV000785470 RCV003466889
NM_000546.6(TP53):c.466C>T (p.Arg156Cys)	SNV Germline	Chr17:7675146	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Li-Fraumeni syndrome Li-Fraumeni syndrome 1 11 conditions not specified Adrenocortical carcinoma, hereditary	Criteria Provided Conflicting Classifications	CA000214	rs_563378859	12 SubmittersRCV000115721 RCV000213051 RCV000232885 RCV000409094 RCV000764146 RCV002465516 RCV003467058
NM_000546.6(TP53):c.535C>T (p.His179Tyr)	SNV Germline/somatic	Chr17:7675077	Pathogenic/Likely pathogenic	Condition: not provided Glioblastoma Ovarian serous cystadenocarcinoma Neoplasm of the large intestine Uterine carcinosarcoma Small cell lung carcinoma Squamous cell carcinoma of the head and neck Neoplasm of brain Lung adenocarcinoma Squamous cell carcinoma of the skin Pancreatic adenocarcinoma Malignant melanoma of skin Malignant neoplasm of body of uterus Gallbladder carcinoma Carcinoma of esophagus Hepatocellular carcinoma Squamous cell lung carcinoma Gastric adenocarcinoma Acute myeloid leukemia Breast neoplasm Li-Fraumeni syndrome Li-Fraumeni syndrome 1 Neoplasm of ovary Hereditary cancer-predisposing syndrome Adrenocortical carcinoma, hereditary	Criteria Provided Multiple Submitters No Conflicts	CA000256	rs_587780070	9 SubmittersRCV000115726 RCV000419735 RCV000431087 RCV000434379 RCV000436304 RCV000424007 RCV000424716 RCV000427283 RCV000444227 RCV000419024 RCV000430411 RCV000434725 RCV000435360 RCV000436095 RCV000440222 RCV000441827 RCV000423020 RCV000423688 RCV000428854 RCV000444364 RCV000555493 RCV000663095 RCV000785312 RCV002288597 RCV003460828
NM_000546.6(TP53):c.604C>T (p.Arg202Cys)	SNV Germline	Chr17:7674927	Conflicting classifications of pathogenicity	Condition: not provided Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1 Adrenocortical carcinoma, hereditary	Criteria Provided Conflicting Classifications	CA000288	rs_587780072	10 SubmittersRCV000115729 RCV000473040 RCV000563913 RCV001257499 RCV004567015
NM_000546.6(TP53):c.659A>G (p.Tyr220Cys)	SNV Germline/somatic	Chr17:7674872	Pathogenic	Hereditary cancer-predisposing syndrome Transitional cell carcinoma of the bladder Prostate adenocarcinoma Uterine carcinosarcoma Acute myeloid leukemia Condition: not provided Glioblastoma Ovarian serous cystadenocarcinoma Papillary renal cell carcinoma, sporadic Papillary renal cell carcinoma type 1 Malignant neoplasm of body of uterus Breast neoplasm Malignant melanoma of skin Neoplasm of the large intestine Li-Fraumeni syndrome Squamous cell carcinoma of the head and neck Gastric adenocarcinoma Neoplasm of brain Small cell lung carcinoma Squamous cell lung carcinoma Hepatocellular carcinoma Pancreatic adenocarcinoma Lung adenocarcinoma Neoplasm of ovary B-cell chronic lymphocytic leukemia 12 conditions Li-Fraumeni syndrome 1 Breast carcinoma Adrenocortical carcinoma, hereditary Gastric cancer TP53-related disorder Adrenal cortex carcinoma	Reviewed By Expert Panel	CA000315	rs_121912666	24 SubmittersRCV000115731 RCV000428097 RCV000434614 RCV000436553 RCV000439645 RCV000213055 RCV000417417 RCV000418951 RCV000428791 RCV000423029 RCV000423111 RCV000423624 RCV000425869 RCV000444717 RCV000232050 RCV000433936 RCV000434300 RCV000435063 RCV000444814 RCV000425193 RCV000439456 RCV000440244 RCV000442230 RCV000785544 RCV001527468 RCV002490776 RCV001310212 RCV001579295 RCV003460829 RCV003162539 RCV003407499 RCV003997298
NM_000546.6(TP53):c.638G>A (p.Arg213Gln)	SNV Germline/somatic	Chr17:7674893	Pathogenic	Li-Fraumeni syndrome not specified Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1 Squamous cell carcinoma of the skin Glioblastoma Carcinoma of esophagus Neoplasm of the large intestine Adrenal cortex carcinoma Condition: not provided Malignant melanoma of skin Prostate adenocarcinoma Lung adenocarcinoma Breast neoplasm Malignant neoplasm of body of uterus Adenoid cystic carcinoma Papillary renal cell carcinoma type 1 Ovarian serous cystadenocarcinoma Gastric adenocarcinoma Neoplasm of brain Pancreatic adenocarcinoma Squamous cell carcinoma of the head and neck Hepatocellular carcinoma Uterine carcinosarcoma Nasopharyngeal neoplasm Transitional cell carcinoma of the bladder Squamous cell lung carcinoma Poly (ADP-Ribose) polymerase inhibitor response Lip and oral cavity carcinoma Breast and/or ovarian cancer Adrenocortical carcinoma, hereditary	Criteria Provided Multiple Submitters No Conflicts	CA000302	rs_587778720	23 SubmittersRCV000123099 RCV000122176 RCV000130072 RCV000144664 RCV000420459 RCV000420595 RCV000424188 RCV000430755 RCV000441015 RCV000420734 RCV000428223 RCV000430946 RCV000432016 RCV000436981 RCV000443346 RCV000444201 RCV000425846 RCV000427005 RCV000430601 RCV000438230 RCV000438582 RCV000419636 RCV000420908 RCV000422008 RCV000432438 RCV000437236 RCV000444077 RCV000626448 RCV001255672 RCV001798386 RCV003460862
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	Criteria Provided Multiple Submitters No Conflicts	CA000423	rs_55832599	17 SubmittersRCV000130398 RCV000413074 RCV000538977 RCV000763416 RCV001255676 RCV002247507 RCV002288637 RCV003149899 RCV003460927
NM_000546.6(TP53):c.745A>T (p.Arg249Trp)	SNV Germline/somatic	Chr17:7674218	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Prostate adenocarcinoma Malignant neoplasm of body of uterus Small cell lung carcinoma Carcinoma of esophagus Squamous cell carcinoma of the head and neck Uterine carcinosarcoma Lung adenocarcinoma Pancreatic adenocarcinoma Squamous cell carcinoma of the skin Ovarian serous cystadenocarcinoma Hepatocellular carcinoma Gastric adenocarcinoma Squamous cell lung carcinoma Acute myeloid leukemia Glioblastoma Medulloblastoma Li-Fraumeni syndrome Condition: not provided Adrenocortical carcinoma, hereditary Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA000389	rs_587782082	6 SubmittersRCV000130578 RCV000431276 RCV000432948 RCV000435888 RCV000417537 RCV000443796 RCV000418238 RCV000423307 RCV000433563 RCV000435249 RCV000424980 RCV000426167 RCV000444809 RCV000425504 RCV000432429 RCV000434278 RCV000440994 RCV002514731 RCV003237740 RCV003460931 RCV004019741
NM_000546.6(TP53):c.473G>A (p.Arg158His)	SNV Germline	Chr17:7675139	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Condition: not provided Li-Fraumeni syndrome 1 Rhabdomyosarcoma Adrenocortical carcinoma, hereditary Breast and/or ovarian cancer	Criteria Provided Multiple Submitters No Conflicts	CA000227	rs_587782144	23 SubmittersRCV000130708 RCV000227859 RCV000255654 RCV000496787 RCV001257522 RCV003461996 RCV003492603
NM_000546.6(TP53):c.994-1G>A	SNV Germline	Chr17:7670716	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Condition: not provided Li-Fraumeni syndrome Li-Fraumeni syndrome 1 Adrenocortical carcinoma, hereditary	Criteria Provided Multiple Submitters No Conflicts	CA000528	rs_587782272	7 SubmittersRCV000131124 RCV000786811 RCV001380070 RCV002288645 RCV003992194
NM_000546.6(TP53):c.542G>A (p.Arg181His)	SNV Germline/somatic	Chr17:7675070	Conflicting classifications of pathogenicity	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	Criteria Provided Conflicting Classifications	CA000259	rs_397514495	20 SubmittersRCV000131382 RCV000168247 RCV000255239 RCV000576528 RCV000989718 RCV001391195 RCV001527471 RCV003462011
NM_000546.6(TP53):c.1009C>T (p.Arg337Cys)	SNV Germline/somatic	Chr17:7670700	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Neoplasm of ovary Li-Fraumeni syndrome 1 Condition: not provided Adrenocortical carcinoma, hereditary	Criteria Provided Multiple Submitters No Conflicts	CA000010	rs_587782529	12 SubmittersRCV000131726 RCV000475086 RCV000785479 RCV001310211 RCV001781474 RCV003467184
NM_000546.6(TP53):c.541C>T (p.Arg181Cys)	SNV Germline	Chr17:7675071	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Condition: not provided Adrenocortical carcinoma, hereditary Familial cancer of breast	Criteria Provided Conflicting Classifications	CA000257	rs_587782596	6 SubmittersRCV000131943 RCV000168292 RCV000236276 RCV003474780 RCV004544301
NM_000546.6(TP53):c.427G>A (p.Val143Met)	SNV Germline	Chr17:7675185	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Li-Fraumeni syndrome 1 Breast neoplasm Malignant tumor of breast Condition: not provided Adrenocortical carcinoma, hereditary	Criteria Provided Conflicting Classifications	CA000176	rs_587782620	8 SubmittersRCV000132003 RCV000227179 RCV000409072 RCV000413546 RCV001354661 RCV001560552 RCV003474783
NM_000546.6(TP53):c.711G>A (p.Met237Ile)	SNV Germline/somatic	Chr17:7674252	Pathogenic	Hereditary cancer-predisposing syndrome Ovarian serous cystadenocarcinoma Malignant neoplasm of body of uterus Gastric adenocarcinoma Breast neoplasm Pancreatic adenocarcinoma Neoplasm of brain Brainstem glioma Lung adenocarcinoma Neoplasm of the large intestine Squamous cell carcinoma of the head and neck Squamous cell lung carcinoma Carcinoma of esophagus Li-Fraumeni syndrome not specified Neoplasm of ovary Breast and/or ovarian cancer Li-Fraumeni syndrome 1 Condition: not provided Adrenocortical carcinoma, hereditary	Reviewed By Expert Panel	CA000349	rs_587782664	11 SubmittersRCV000132084 RCV000420354 RCV000422710 RCV000433401 RCV000435205 RCV000440576 RCV000417987 RCV000423376 RCV000432346 RCV000441079 RCV000428641 RCV000441725 RCV000431054 RCV000464261 RCV000581940 RCV000785336 RCV001271055 RCV001527088 RCV001567943 RCV003462031
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 Lip and oral cavity carcinoma Squamous cell carcinoma of the head and neck Adrenocortical carcinoma, hereditary	Reviewed By Expert Panel	CA000204	rs_587782705	16 SubmittersRCV000132156 RCV000168122 RCV000583667 RCV000677669 RCV000755703 RCV001255632 RCV001270267 RCV003462034
NM_000546.6(TP53):c.481G>A (p.Ala161Thr)	SNV Germline/somatic	Chr17:7675131	Pathogenic/Likely pathogenic	Malignant tumor of prostate Condition: not provided Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Li-Fraumeni syndrome 1 Neoplasm of ovary 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	Chr17:7675994	Pathogenic/Likely pathogenic	Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Condition: not provided Breast and/or ovarian cancer Rhabdomyosarcoma Glioma susceptibility 1 Malignant tumor of prostate Li-Fraumeni syndrome 1 TP53-related disorder Adrenocortical carcinoma, hereditary Nephrogenic diabetes insipidus	Criteria Provided Multiple Submitters No Conflicts	CA000144	rs_55863639	20 SubmittersRCV000154460 RCV000218743 RCV000483667 RCV001271053 RCV001257525 RCV001530197 RCV001527480 RCV002288665 RCV003398806 RCV003462060 RCV004525830
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 Neoplasm of ovary Li-Fraumeni syndrome 1 12 conditions Gallbladder cancer Colonic diverticula Adrenocortical carcinoma, hereditary	Criteria Provided Multiple Submitters No Conflicts	CA000019	rs_730882029	17 SubmittersRCV000161074 RCV000213069 RCV000549233 RCV000785301 RCV002288707 RCV002492644 RCV001374440 RCV001554321 RCV003474838
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 Hepatocellular carcinoma Lung adenocarcinoma Gastric adenocarcinoma Neoplasm of brain B-cell chronic lymphocytic leukemia Multiple myeloma Ovarian serous cystadenocarcinoma Glioblastoma Neoplasm of uterine cervix Uterine carcinosarcoma Pancreatic adenocarcinoma Carcinoma of esophagus Transitional cell carcinoma of the bladder Breast neoplasm Malignant neoplasm of body of uterus Neoplasm of the large intestine Squamous cell carcinoma of the head and neck Neoplasm of ovary Gallbladder cancer Li-Fraumeni syndrome 1 Adrenocortical carcinoma, hereditary	Criteria Provided Multiple Submitters No Conflicts	CA000351	rs_730882005	10 SubmittersRCV000161034 RCV000167907 RCV000235220 RCV000418002 RCV000420202 RCV000427976 RCV000426733 RCV000429110 RCV000439129 RCV000442204 RCV000433120 RCV000442285 RCV000436794 RCV000438032 RCV000417749 RCV000421991 RCV000426546 RCV000431283 RCV000437851 RCV000444562 RCV000785261 RCV001374444 RCV002288693 RCV003462109
NM_000546.6(TP53):c.646G>A (p.Val216Met)	SNV Germline/somatic	Chr17:7674885	Pathogenic/Likely pathogenic	Condition: not provided Li-Fraumeni syndrome Breast neoplasm Ovarian serous cystadenocarcinoma Pancreatic adenocarcinoma Squamous cell carcinoma of the skin Carcinoma of esophagus Neoplasm of brain Squamous cell lung carcinoma Uterine carcinosarcoma Lung adenocarcinoma Glioblastoma Squamous cell carcinoma of the head and neck Hereditary cancer-predisposing syndrome not specified Li-Fraumeni syndrome 1 Neoplasm of ovary Adrenocortical carcinoma, hereditary	Criteria Provided Multiple Submitters No Conflicts	CA000308	rs_730882025	13 SubmittersRCV000161067 RCV000168150 RCV000421726 RCV000421819 RCV000431843 RCV000426366 RCV000438503 RCV000424101 RCV000428263 RCV000436614 RCV000432944 RCV000443170 RCV000444190 RCV000561534 RCV000583984 RCV000663213 RCV000785523 RCV003474837
NM_000546.6(TP53):c.380C>T (p.Ser127Phe)	SNV Germline/somatic	Chr17:7675232	Conflicting classifications of pathogenicity	Condition: not provided not specified Neoplasm of ovary Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1 Adrenocortical carcinoma, hereditary	Criteria Provided Conflicting Classifications	CA000148	rs_730881999	9 SubmittersRCV000161024 RCV000606528 RCV000785332 RCV000633384 RCV003162681 RCV004019945 RCV003474836
NM_000546.6(TP53):c.830G>A (p.Cys277Tyr)	SNV Germline	Chr17:7673790	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Li-Fraumeni syndrome Malignant tumor of breast Adrenocortical carcinoma, hereditary	Criteria Provided Conflicting Classifications	CA000438	rs_763098116	7 SubmittersRCV000165199 RCV000254809 RCV000456858 RCV001357202 RCV003474865
NM_000546.6(TP53):c.578A>G (p.His193Arg)	SNV Germline/somatic	Chr17:7674953	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Condition: not provided Lung adenocarcinoma Uterine carcinosarcoma Pancreatic adenocarcinoma Prostate adenocarcinoma Small cell lung carcinoma Neoplasm of brain Breast neoplasm Acute myeloid leukemia Gastric adenocarcinoma Squamous cell lung carcinoma B-cell chronic lymphocytic leukemia Transitional cell carcinoma of the bladder Carcinoma of esophagus Papillary renal cell carcinoma, sporadic Brainstem glioma Squamous cell carcinoma of the head and neck Ovarian serous cystadenocarcinoma Malignant neoplasm of body of uterus Hepatocellular carcinoma Neoplasm of the large intestine Li-Fraumeni syndrome Neoplasm of ovary Li-Fraumeni syndrome 1 Adrenocortical carcinoma, hereditary	Criteria Provided Multiple Submitters No Conflicts	CA000274	rs_786201838	10 SubmittersRCV000164329 RCV000255425 RCV000423280 RCV000424475 RCV000425611 RCV000427767 RCV000433342 RCV000439433 RCV000418086 RCV000440903 RCV000418288 RCV000445029 RCV000417979 RCV000428340 RCV000423052 RCV000439827 RCV000434391 RCV000429618 RCV000434549 RCV000445148 RCV000435651 RCV000435870 RCV000460847 RCV000785346 RCV002288732 RCV003474857
NM_000546.6(TP53):c.527G>A (p.Cys176Tyr)	SNV Germline/somatic	Chr17:7675085	Pathogenic	Hereditary cancer-predisposing syndrome Condition: not provided Squamous cell lung carcinoma Breast neoplasm Acute myeloid leukemia Carcinoma of esophagus Papillary renal cell carcinoma type 1 Neoplasm of the large intestine Gastric adenocarcinoma Ovarian serous cystadenocarcinoma Prostate adenocarcinoma Lung adenocarcinoma Pancreatic adenocarcinoma Squamous cell carcinoma of the head and neck Transitional cell carcinoma of the bladder Hepatocellular carcinoma Neoplasm of brain Li-Fraumeni syndrome Familial ovarian cancer Li-Fraumeni syndrome 1 Squamous cell carcinoma TP53-related disorder Adrenocortical carcinoma, hereditary Adrenal cortex carcinoma	Criteria Provided Multiple Submitters No Conflicts	CA000254	rs_786202962	10 SubmittersRCV000166045 RCV000255616 RCV000421421 RCV000429854 RCV000432068 RCV000424233 RCV000435778 RCV000437356 RCV000430147 RCV000441417 RCV000433025 RCV000441274 RCV000438398 RCV000418577 RCV000419236 RCV000422335 RCV000430568 RCV000461158 RCV001354219 RCV002288754 RCV003128588 RCV003407616 RCV003474872 RCV003995473
NM_000546.6(TP53):c.413C>T (p.Ala138Val)	SNV Germline/somatic	Chr17:7675199	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Adrenocortical carcinoma, hereditary Adrenal cortex carcinoma Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA000168	rs_750600586	5 SubmittersRCV000164195 RCV000813957 RCV003474852 RCV003995323 RCV004019963
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 Neoplasm of brain Squamous cell carcinoma of the head and neck Squamous cell lung carcinoma Adrenal cortex carcinoma Ovarian serous cystadenocarcinoma Malignant melanoma of skin Pancreatic adenocarcinoma Papillary renal cell carcinoma type 1 Acute myeloid leukemia Neoplasm of the large intestine Breast neoplasm Lung adenocarcinoma Squamous cell carcinoma of the skin Hepatocellular carcinoma Glioblastoma Transitional cell carcinoma of the bladder Carcinoma of esophagus Small cell lung carcinoma Brainstem glioma Gastric adenocarcinoma Li-Fraumeni syndrome Li-Fraumeni syndrome 1 Adrenocortical carcinoma, hereditary	Criteria Provided Conflicting Classifications	CA000140	rs_786201057	13 SubmittersRCV000162461 RCV000237013 RCV000421040 RCV000419372 RCV000421688 RCV000428519 RCV000430781 RCV000433024 RCV000431915 RCV000438666 RCV000420028 RCV000425628 RCV000427448 RCV000432405 RCV000436631 RCV000438105 RCV000417610 RCV000439150 RCV000442735 RCV000426825 RCV000443535 RCV000441098 RCV000457119 RCV000576336 RCV003462117
NM_000546.6(TP53):c.83A>T (p.Glu28Val)	SNV Germline	Chr17:7676395	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Li-Fraumeni syndrome 1 Adrenocortical carcinoma, hereditary	Criteria Provided Conflicting Classifications	CA000449	rs_786202289	4 SubmittersRCV000165025 RCV001850309 RCV002288739 RCV004567258
NM_000546.6(TP53):c.824G>A (p.Cys275Tyr)	SNV Germline/somatic	Chr17:7673796	Pathogenic/Likely pathogenic	Li-Fraumeni syndrome Condition: not provided Malignant melanoma of skin Hepatocellular carcinoma Breast neoplasm Transitional cell carcinoma of the bladder B-cell chronic lymphocytic leukemia Adrenal cortex carcinoma Glioblastoma Multiple myeloma Neoplasm of brain Ovarian serous cystadenocarcinoma Pancreatic adenocarcinoma Squamous cell carcinoma of the head and neck Papillary renal cell carcinoma type 1 Lung adenocarcinoma Neoplasm of the large intestine Carcinoma of esophagus Hereditary cancer-predisposing syndrome Neoplasm of ovary Breast carcinoma Li-Fraumeni syndrome 1 Acute myeloid leukemia Adrenocortical carcinoma, hereditary	Criteria Provided Multiple Submitters No Conflicts	CA337141	rs_863224451	13 SubmittersRCV000197359 RCV000235315 RCV000418175 RCV000424784 RCV000433358 RCV000427629 RCV000439892 RCV000442357 RCV000443293 RCV000422025 RCV000422663 RCV000439245 RCV000423497 RCV000429197 RCV000434190 RCV000435410 RCV000438333 RCV000442329 RCV000568594 RCV000785533 RCV001610519 RCV002288809 RCV003320135 RCV003468892
NM_000546.6(TP53):c.672+1G>A	SNV Germline	Chr17:7674858	Pathogenic/Likely pathogenic	Li-Fraumeni syndrome Condition: not provided Li-Fraumeni syndrome 1 Hereditary cancer-predisposing syndrome Adrenocortical carcinoma, hereditary	Criteria Provided Multiple Submitters No Conflicts	CA339249	rs_863224499	8 SubmittersRCV000200333 RCV000786828 RCV002288813 RCV002288814 RCV003474954
NM_000546.6(TP53):c.584T>C (p.Ile195Thr)	SNV Germline/somatic	Chr17:7674947	Conflicting classifications of pathogenicity	Li-Fraumeni syndrome Lung adenocarcinoma Acute myeloid leukemia Squamous cell lung carcinoma Hepatocellular carcinoma Ovarian serous cystadenocarcinoma Multiple myeloma Breast neoplasm Uterine carcinosarcoma Neoplasm of brain Carcinoma of esophagus B-cell chronic lymphocytic leukemia Neoplasm of the large intestine Glioblastoma Pancreatic adenocarcinoma Squamous cell carcinoma of the head and neck Gastric adenocarcinoma Condition: not provided Neoplasm of ovary Hereditary cancer-predisposing syndrome Breast and/or ovarian cancer Li-Fraumeni syndrome 1 Adrenocortical carcinoma, hereditary	Criteria Provided Conflicting Classifications	CA002232	rs_760043106	12 SubmittersRCV000198789 RCV000421097 RCV000421751 RCV000429852 RCV000434805 RCV000436603 RCV000442071 RCV000419621 RCV000438726 RCV000418938 RCV000423911 RCV000428484 RCV000429211 RCV000434089 RCV000437301 RCV000439388 RCV000441624 RCV000487386 RCV000785324 RCV001024600 RCV001271054 RCV002288812 RCV003474953
NM_000546.6(TP53):c.743G>T (p.Arg248Leu)	SNV Germline/somatic	Chr17:7674220	Pathogenic	Hereditary cancer-predisposing syndrome Neoplasm of brain Squamous cell lung carcinoma Acute myeloid leukemia Multiple myeloma Squamous cell carcinoma of the head and neck Lung adenocarcinoma Small cell lung carcinoma Uterine carcinosarcoma Transitional cell carcinoma of the bladder Carcinoma of esophagus Neoplasm of the large intestine Brainstem glioma Medulloblastoma Pancreatic adenocarcinoma Malignant melanoma of skin Myelodysplastic syndrome Malignant neoplasm of body of uterus B-cell chronic lymphocytic leukemia Ovarian serous cystadenocarcinoma Hepatocellular carcinoma Gastric adenocarcinoma Glioblastoma Squamous cell carcinoma of the skin Breast neoplasm Prostate adenocarcinoma Li-Fraumeni syndrome Adrenocortical carcinoma, hereditary Li-Fraumeni syndrome 1	Reviewed By Expert Panel	CA10580924	rs_11540652	7 SubmittersRCV000219834 RCV000422303 RCV000422821 RCV000429221 RCV000439901 RCV000427307 RCV000428586 RCV000434177 RCV000417894 RCV000418531 RCV000439516 RCV000440686 RCV000423159 RCV000423468 RCV000424394 RCV000443712 RCV000424119 RCV000445266 RCV000430044 RCV000433237 RCV000435726 RCV000433865 RCV000443630 RCV000435101 RCV000437940 RCV000445145 RCV000991149 RCV003475005 RCV004020650
NM_000546.6(TP53):c.715A>G (p.Asn239Asp)	SNV Germline/somatic	Chr17:7674248	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Gastric adenocarcinoma Lung adenocarcinoma Neoplasm of the large intestine Prostate adenocarcinoma Malignant neoplasm of body of uterus Hepatocellular carcinoma Breast neoplasm Uterine carcinosarcoma Squamous cell carcinoma of the head and neck Papillary renal cell carcinoma type 1 Ovarian serous cystadenocarcinoma Li-Fraumeni syndrome Malignant tumor of breast Condition: not provided Adrenocortical carcinoma, hereditary Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA10580926	rs_876660807	8 SubmittersRCV000223044 RCV000428477 RCV000421256 RCV000434302 RCV000423612 RCV000424282 RCV000441535 RCV000439114 RCV000426851 RCV000432300 RCV000433419 RCV000442741 RCV000560536 RCV001355898 RCV003137828 RCV003475037 RCV004020697
NM_000546.6(TP53):c.329G>C (p.Arg110Pro)	SNV Germline	Chr17:7676040	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Li-Fraumeni syndrome 1 Adrenocortical carcinoma, hereditary	Criteria Provided Multiple Submitters No Conflicts	CA10580948	rs_11540654	5 SubmittersRCV000222678 RCV000231991 RCV002288889 RCV003462528
NM_000546.6(TP53):c.158G>A (p.Trp53Ter)	SNV Germline/somatic	Chr17:7676211	Pathogenic	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Neoplasm of ovary Adrenocortical carcinoma, hereditary Li-Fraumeni syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA10580959	rs_876658483	6 SubmittersRCV000222677 RCV000693351 RCV000785314 RCV003475007 RCV002288852
NM_000546.6(TP53):c.845G>A (p.Arg282Gln)	SNV Germline/somatic	Chr17:7673775	Conflicting classifications of pathogenicity	Li-Fraumeni syndrome not specified Glioblastoma Papillary renal cell carcinoma type 1 Squamous cell carcinoma of the head and neck Squamous cell carcinoma of the skin Prostate adenocarcinoma Neoplasm of the large intestine Carcinoma of esophagus Pancreatic adenocarcinoma Malignant melanoma of skin Ovarian serous cystadenocarcinoma Transitional cell carcinoma of the bladder Malignant neoplasm of body of uterus Hereditary cancer-predisposing syndrome Gastric adenocarcinoma Squamous cell lung carcinoma Breast neoplasm Non-Hodgkin lymphoma Condition: not provided Neoplasm of brain Lung adenocarcinoma Hepatocellular carcinoma Malignant tumor of breast Li-Fraumeni syndrome 1 Adrenocortical carcinoma, hereditary Hereditary breast ovarian cancer syndrome	Criteria Provided Conflicting Classifications	CA10575441	rs_730882008	14 SubmittersRCV000226273 RCV000235474 RCV000421276 RCV000436164 RCV000444806 RCV000422340 RCV000423658 RCV000425549 RCV000426667 RCV000428909 RCV000442318 RCV000431918 RCV000442471 RCV000434324 RCV000492420 RCV000418376 RCV000427734 RCV000429554 RCV000433180 RCV000767028 RCV000437335 RCV000438489 RCV000439593 RCV001357626 RCV000709768 RCV003463657 RCV003483584
NM_000546.6(TP53):c.734G>C (p.Gly245Ala)	SNV Germline/somatic	Chr17:7674229	Conflicting classifications of pathogenicity	Condition: not provided Breast neoplasm Brainstem glioma Ovarian serous cystadenocarcinoma Carcinoma of esophagus Lung adenocarcinoma Squamous cell lung carcinoma Prostate adenocarcinoma Neoplasm of the large intestine Neoplasm of brain Pancreatic adenocarcinoma Transitional cell carcinoma of the bladder Uterine carcinosarcoma Gastric adenocarcinoma Hepatocellular carcinoma Glioblastoma Squamous cell carcinoma of the head and neck Hereditary cancer-predisposing syndrome Adrenal cortex carcinoma Li-Fraumeni syndrome Adrenocortical carcinoma, hereditary	Criteria Provided Conflicting Classifications	CA10588670	rs_121912656	6 SubmittersRCV000255018 RCV000425368 RCV000428537 RCV000431752 RCV000432804 RCV000433958 RCV000436773 RCV000438479 RCV000443845 RCV000421477 RCV000422531 RCV000427619 RCV000443789 RCV000437884 RCV000420237 RCV000426521 RCV000442824 RCV002379095 RCV003995742 RCV003509522 RCV004567808
NM_000546.6(TP53):c.518T>G (p.Val173Gly)	SNV Germline/somatic	Chr17:7675094	Conflicting classifications of pathogenicity	Pancreatic adenocarcinoma Adrenal cortex carcinoma Malignant melanoma of skin Acute myeloid leukemia Hepatocellular carcinoma Lung adenocarcinoma Carcinoma of esophagus Neoplasm of brain Breast neoplasm Small cell lung carcinoma Gastric adenocarcinoma Brainstem glioma Malignant neoplasm of body of uterus Neoplasm of the large intestine Ovarian serous cystadenocarcinoma Squamous cell carcinoma of the head and neck Li-Fraumeni syndrome Adrenocortical carcinoma, hereditary	Criteria Provided Conflicting Classifications	CA16602485	rs_1057519747	3 SubmittersRCV000418455 RCV000424145 RCV000419153 RCV000421182 RCV000429875 RCV000430527 RCV000426044 RCV000429147 RCV000432060 RCV000421399 RCV000441241 RCV000442290 RCV000432754 RCV000437220 RCV000441421 RCV000445056 RCV000807434 RCV003463825
NM_000546.6(TP53):c.842A>C (p.Asp281Ala)	SNV Somatic	Chr17:7673778	Likely pathogenic	Uterine carcinosarcoma Gastric adenocarcinoma Breast neoplasm Squamous cell carcinoma of the head and neck Hepatocellular carcinoma Squamous cell carcinoma of the skin Lung adenocarcinoma Multiple myeloma Pancreatic adenocarcinoma Neuroblastoma B-cell chronic lymphocytic leukemia Papillary renal cell carcinoma type 1 Malignant neoplasm of body of uterus Malignant melanoma of skin Glioblastoma Squamous cell lung carcinoma Ovarian serous cystadenocarcinoma Transitional cell carcinoma of the bladder Adrenocortical carcinoma, hereditary	Criteria Provided Single Submitter	CA16603011	rs_587781525	2 SubmittersRCV000417517 RCV000419849 RCV000420104 RCV000422679 RCV000424893 RCV000427537 RCV000425979 RCV000429708 RCV000430790 RCV000433406 RCV000435611 RCV000435784 RCV000438210 RCV000440361 RCV000440602 RCV000442214 RCV000443934 RCV000442965 RCV003463826
NM_000546.6(TP53):c.809T>G (p.Phe270Cys)	SNV Germline/somatic	Chr17:7673811	Conflicting classifications of pathogenicity	Ovarian serous cystadenocarcinoma Lung adenocarcinoma Gastric adenocarcinoma Squamous cell carcinoma of the skin Breast neoplasm Neoplasm of brain Squamous cell lung carcinoma Carcinoma of esophagus Squamous cell carcinoma of the head and neck Hereditary cancer-predisposing syndrome Condition: not provided Li-Fraumeni syndrome Adrenocortical carcinoma, hereditary Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA16603019	rs_1057519986	6 SubmittersRCV000422121 RCV000422786 RCV000424190 RCV000432351 RCV000434574 RCV000433925 RCV000440467 RCV000441020 RCV000443933 RCV001805037 RCV002508212 RCV002524696 RCV003470375 RCV004022213
NM_000546.6(TP53):c.730G>A (p.Gly244Ser)	SNV Germline/somatic	Chr17:7674233	Pathogenic	Lung adenocarcinoma Ovarian serous cystadenocarcinoma Small cell lung carcinoma Squamous cell lung carcinoma Uterine carcinosarcoma Neoplasm of brain Carcinoma of esophagus Hepatocellular carcinoma Glioblastoma Malignant neoplasm of body of uterus Squamous cell carcinoma of the head and neck Gastric adenocarcinoma Neoplasm of the large intestine Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Rhabdomyosarcoma Li-Fraumeni syndrome 1 Gastric cancer Adrenocortical carcinoma, hereditary Malignant tumor of urinary bladder	Criteria Provided Multiple Submitters No Conflicts	CA16603022	rs_1057519989	9 SubmittersRCV000418805 RCV000421362 RCV000425382 RCV000423748 RCV000426057 RCV000426513 RCV000432031 RCV000433704 RCV000436060 RCV000434459 RCV000441006 RCV000442909 RCV000443654 RCV000492366 RCV000633372 RCV001257520 RCV002289524 RCV003168616 RCV003476007 RCV003332172
NM_000546.6(TP53):c.734G>T (p.Gly245Val)	SNV Germline/somatic	Chr17:7674229	Pathogenic	Squamous cell carcinoma of the head and neck Gastric adenocarcinoma Ovarian serous cystadenocarcinoma Neoplasm of brain Glioblastoma Neoplasm of the large intestine Uterine carcinosarcoma Transitional cell carcinoma of the bladder Carcinoma of esophagus Prostate adenocarcinoma Pancreatic adenocarcinoma Hepatocellular carcinoma Breast neoplasm Lung adenocarcinoma Squamous cell lung carcinoma Brainstem glioma Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Condition: not provided Li-Fraumeni syndrome 1 Adrenocortical carcinoma, hereditary	Criteria Provided Multiple Submitters No Conflicts	CA001743	rs_121912656	6 SubmittersRCV000418643 RCV000421020 RCV000421739 RCV000424123 RCV000426568 RCV000428216 RCV000429303 RCV000430431 RCV000434145 RCV000434833 RCV000435854 RCV000437258 RCV000439974 RCV000438982 RCV000443716 RCV000444483 RCV000558455 RCV001026313 RCV001548147 RCV002289525 RCV003476008
NM_000546.6(TP53):c.536A>T (p.His179Leu)	SNV Germline/somatic	Chr17:7675076	Conflicting classifications of pathogenicity	Glioblastoma Squamous cell carcinoma of the head and neck Carcinoma of esophagus Breast neoplasm Small cell lung carcinoma Uterine carcinosarcoma Gallbladder carcinoma Squamous cell carcinoma of the skin Acute myeloid leukemia Gastric adenocarcinoma Hepatocellular carcinoma Ovarian serous cystadenocarcinoma Lung adenocarcinoma Pancreatic adenocarcinoma Neoplasm of brain Malignant neoplasm of body of uterus Malignant melanoma of skin Squamous cell lung carcinoma Li-Fraumeni syndrome Neoplasm of the large intestine Adrenocortical carcinoma, hereditary Li-Fraumeni syndrome 1 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA16603029	rs_1057519991	5 SubmittersRCV000421837 RCV000429543 RCV000426806 RCV000427517 RCV000433134 RCV000418129 RCV000420124 RCV000432531 RCV000438217 RCV000439318 RCV000427330 RCV000438631 RCV000444683 RCV000418835 RCV000427941 RCV000439930 RCV000432746 RCV000435347 RCV000705316 RCV000443637 RCV003476009 RCV004022217 RCV002348143
NM_000546.6(TP53):c.535C>G (p.His179Asp)	SNV Germline/somatic	Chr17:7675077	Conflicting classifications of pathogenicity	Small cell lung carcinoma Neoplasm of the large intestine Uterine carcinosarcoma Ovarian serous cystadenocarcinoma Lung adenocarcinoma Gastric adenocarcinoma Gallbladder carcinoma Hepatocellular carcinoma Acute myeloid leukemia Breast neoplasm Glioblastoma Squamous cell carcinoma of the head and neck Carcinoma of esophagus Malignant melanoma of skin Pancreatic adenocarcinoma Squamous cell carcinoma of the skin Squamous cell lung carcinoma Neoplasm of brain Malignant neoplasm of body of uterus Li-Fraumeni syndrome not specified Li-Fraumeni syndrome 1 Adrenocortical carcinoma, hereditary Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA16603031	rs_587780070	6 SubmittersRCV000419821 RCV000421694 RCV000424030 RCV000423899 RCV000425288 RCV000430072 RCV000431709 RCV000431956 RCV000437679 RCV000436622 RCV000441771 RCV000444860 RCV000444992 RCV000420116 RCV000426383 RCV000430612 RCV000436443 RCV000440707 RCV000443866 RCV001851020 RCV002465649 RCV003335320 RCV003470376 RCV002348144
NM_000546.6(TP53):c.394A>C (p.Lys132Gln)	SNV Germline/somatic	Chr17:7675218	Conflicting classifications of pathogenicity	Adrenal cortex carcinoma Gastric adenocarcinoma Neoplasm of uterine cervix Carcinoma of esophagus Squamous cell lung carcinoma Transitional cell carcinoma of the bladder Ovarian serous cystadenocarcinoma Uterine carcinosarcoma Neoplasm of brain Breast neoplasm Glioblastoma Lung adenocarcinoma Pancreatic adenocarcinoma Squamous cell carcinoma of the head and neck Neoplasm of the large intestine Multiple myeloma Li-Fraumeni syndrome Adrenocortical carcinoma, hereditary Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA16603047	rs_747342068	4 SubmittersRCV000419400 RCV000421029 RCV000419226 RCV000422568 RCV000427319 RCV000427528 RCV000429238 RCV000432840 RCV000432114 RCV000434062 RCV000436873 RCV000438684 RCV000440130 RCV000439934 RCV000442713 RCV000442639 RCV001205860 RCV003463827 RCV004022226
NM_000546.6(TP53):c.833C>A (p.Pro278His)	SNV Germline/somatic	Chr17:7673787	Conflicting classifications of pathogenicity	Neoplasm of brain Squamous cell lung carcinoma Pancreatic adenocarcinoma Carcinoma of esophagus Malignant melanoma of skin Squamous cell carcinoma of the head and neck Ovarian serous cystadenocarcinoma Squamous cell carcinoma of the skin Lung adenocarcinoma Multiple myeloma Neoplasm of the large intestine Li-Fraumeni syndrome Breast neoplasm Malignant neoplasm of body of uterus Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1 Adrenocortical carcinoma, hereditary	Criteria Provided Conflicting Classifications	CA16603063	rs_876659802	6 SubmittersRCV000417607 RCV000424797 RCV000420265 RCV000426301 RCV000422133 RCV000443564 RCV000433513 RCV000433712 RCV000435517 RCV000427682 RCV000428293 RCV000633329 RCV000437485 RCV000444453 RCV001017582 RCV002289531 RCV004567903
NM_000546.6(TP53):c.838A>G (p.Arg280Gly)	SNV Germline/somatic	Chr17:7673782	Conflicting classifications of pathogenicity	Small cell lung carcinoma Nasopharyngeal neoplasm Malignant melanoma of skin Squamous cell lung carcinoma Gastric adenocarcinoma Carcinoma of esophagus Uterine carcinosarcoma Squamous cell carcinoma of the skin Transitional cell carcinoma of the bladder Squamous cell carcinoma of the head and neck Acute myeloid leukemia Neoplasm of uterine cervix Ovarian serous cystadenocarcinoma Neoplasm of brain Lung adenocarcinoma Breast neoplasm Hereditary cancer-predisposing syndrome Hepatocellular carcinoma Li-Fraumeni syndrome Neoplasm of ovary Adrenocortical carcinoma, hereditary Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA16603073	rs_753660142	7 SubmittersRCV000418465 RCV000421324 RCV000419917 RCV000420625 RCV000426479 RCV000427170 RCV000424417 RCV000430194 RCV000431582 RCV000429590 RCV000439619 RCV000445156 RCV000439812 RCV000435565 RCV000436708 RCV000438255 RCV000568150 RCV000439157 RCV000706131 RCV000785300 RCV003476010 RCV004022240
NM_000546.6(TP53):c.644G>A (p.Ser215Asn)	SNV Germline/somatic	Chr17:7674887	Conflicting classifications of pathogenicity	Hepatocellular carcinoma Pancreatic adenocarcinoma Acute myeloid leukemia Ovarian serous cystadenocarcinoma Carcinoma of esophagus Breast neoplasm Small cell lung carcinoma Lung adenocarcinoma Gastric adenocarcinoma Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Adrenocortical carcinoma, hereditary Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA16603077	rs_587782177	5 SubmittersRCV000422423 RCV000421424 RCV000423774 RCV000427974 RCV000432107 RCV000434496 RCV000438643 RCV000442434 RCV000443221 RCV000492171 RCV000816006 RCV003476011 RCV004022241
NM_000546.6(TP53):c.487T>C (p.Tyr163His)	SNV Germline/somatic	Chr17:7675125	Conflicting classifications of pathogenicity	Ovarian serous cystadenocarcinoma Carcinoma of esophagus Squamous cell lung carcinoma Malignant melanoma of skin Uterine carcinosarcoma Breast neoplasm Small cell lung carcinoma Brainstem glioma Pancreatic adenocarcinoma Neoplasm of brain Lung adenocarcinoma Neoplasm of the large intestine Hepatocellular carcinoma Squamous cell carcinoma of the head and neck Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Li-Fraumeni syndrome 1 Adrenocortical carcinoma, hereditary	Criteria Provided Conflicting Classifications	CA16603094	rs_786203436	5 SubmittersRCV000417511 RCV000418221 RCV000418859 RCV000423893 RCV000423239 RCV000425645 RCV000428451 RCV000431265 RCV000434193 RCV000435900 RCV000436639 RCV000438678 RCV000440924 RCV000441609 RCV001023195 RCV001071488 RCV002289543 RCV003476012
NM_000546.6(TP53):c.658T>C (p.Tyr220His)	SNV Germline/somatic	Chr17:7674873	Pathogenic/Likely pathogenic	Breast neoplasm Ovarian serous cystadenocarcinoma Glioblastoma Prostate adenocarcinoma Hepatocellular carcinoma Malignant melanoma of skin Papillary renal cell carcinoma, sporadic Squamous cell carcinoma of the head and neck Squamous cell lung carcinoma Transitional cell carcinoma of the bladder Small cell lung carcinoma Neoplasm of brain Papillary renal cell carcinoma type 1 Neoplasm of the large intestine Lung adenocarcinoma Uterine carcinosarcoma Pancreatic adenocarcinoma Gastric adenocarcinoma Malignant neoplasm of body of uterus Neoplasm of ovary Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Li-Fraumeni syndrome 1 Adrenocortical carcinoma, hereditary	Criteria Provided Multiple Submitters No Conflicts	CA002135	rs_530941076	7 SubmittersRCV000417798 RCV000420004 RCV000420142 RCV000422371 RCV000422197 RCV000425148 RCV000435010 RCV000430823 RCV000431992 RCV000429815 RCV000438238 RCV000431076 RCV000436002 RCV000433089 RCV000444451 RCV000444634 RCV000439425 RCV000440468 RCV000440668 RCV000785254 RCV000566866 RCV001215103 RCV004022253 RCV003476013
NM_000546.6(TP53):c.717C>G (p.Asn239Lys)	SNV Germline	Chr17:7674246	Conflicting classifications of pathogenicity	Condition: not provided Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Adrenocortical carcinoma, hereditary	Criteria Provided Conflicting Classifications	CA16607851	rs_1057522275	5 SubmittersRCV000431317 RCV000529909 RCV000492173 RCV003463830
NM_000546.6(TP53):c.941C>T (p.Ser314Phe)	SNV Germline	Chr17:7673587	Conflicting classifications of pathogenicity	Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1 Adrenocortical carcinoma, hereditary	Criteria Provided Conflicting Classifications	CA001234	rs_751440465	4 SubmittersRCV000456310 RCV000570325 RCV002289598 RCV004567972
NM_000546.6(TP53):c.399G>A (p.Met133Ile)	SNV Germline	Chr17:7675213	Conflicting classifications of pathogenicity	Condition: not provided Li-Fraumeni syndrome 1 Li-Fraumeni syndrome Adrenocortical carcinoma, hereditary Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA16620633	rs_1064795139	8 SubmittersRCV000484833 RCV000662907 RCV001052030 RCV004568185 RCV002289639
NM_000546.6(TP53):c.159G>A (p.Trp53Ter)	SNV Germline	Chr17:7676210	Pathogenic	Condition: not provided Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1 Li-Fraumeni syndrome Adrenocortical carcinoma, hereditary	Criteria Provided Multiple Submitters No Conflicts	CA16620640	rs_1064794618	7 SubmittersRCV000480240 RCV001012297 RCV002289632 RCV001236368 RCV003464011
NM_000546.6(TP53):c.826G>C (p.Ala276Pro)	SNV Germline/somatic	Chr17:7673794	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Neoplasm of ovary Adrenocortical carcinoma, hereditary	Criteria Provided Conflicting Classifications	CA397836931	rs_1131691029	4 SubmittersRCV000492584 RCV000705570 RCV000785453 RCV004568619
NM_000546.6(TP53):c.559+1G>A	SNV Germline	Chr17:7675052	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome 11 conditions Condition: not provided Li-Fraumeni syndrome Li-Fraumeni syndrome 1 Adrenocortical carcinoma, hereditary	Criteria Provided Multiple Submitters No Conflicts	CA397841068	rs_1131691042	9 SubmittersRCV000492159 RCV000763418 RCV000786834 RCV001210960 RCV002289678 RCV003476180
NM_000546.6(TP53):c.478A>G (p.Met160Val)	SNV Germline	Chr17:7675134	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Adrenocortical carcinoma, hereditary	Criteria Provided Conflicting Classifications	CA397841976	rs_377274728	5 SubmittersRCV000513585 RCV000570720 RCV001051011 RCV004568658
NM_000546.6(TP53):c.476C>T (p.Ala159Val)	SNV Germline	Chr17:7675136	Pathogenic/Likely pathogenic	Li-Fraumeni syndrome Condition: not provided Hereditary cancer-predisposing syndrome Adrenocortical carcinoma, hereditary Li-Fraumeni syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA397842017	rs_1555526131	5 SubmittersRCV000527533 RCV001764539 RCV002341276 RCV003476227 RCV004023788
NM_000546.6(TP53):c.835G>A (p.Gly279Arg)	SNV Germline	Chr17:7673785	Conflicting classifications of pathogenicity	Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1 Adrenocortical carcinoma, hereditary	Criteria Provided Conflicting Classifications	CA397836877	rs_1555525248	4 SubmittersRCV000547189 RCV000566142 RCV002267618 RCV003459203
NM_000546.6(TP53):c.917G>A (p.Arg306Gln)	SNV Germline	Chr17:7673703	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Squamous cell carcinoma of the head and neck Li-Fraumeni syndrome Condition: not provided Familial cancer of breast not specified Adrenocortical carcinoma, hereditary	Criteria Provided Conflicting Classifications	CA287486566	rs_1048095040	10 SubmittersRCV000561902 RCV000989706 RCV000527123 RCV000986056 RCV000664300 RCV003330753 RCV004568752
NM_000546.6(TP53):c.796G>A (p.Gly266Arg)	SNV Germline/somatic	Chr17:7673824	Pathogenic	Li-Fraumeni syndrome Neoplasm of ovary Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1 Adrenocortical carcinoma, hereditary	Criteria Provided Multiple Submitters No Conflicts	CA397837142	rs_1057519990	5 SubmittersRCV000528667 RCV000785497 RCV001027016 RCV002289744 RCV004568751
NM_000546.6(TP53):c.388C>G (p.Leu130Val)	SNV Germline	Chr17:7675224	Conflicting classifications of pathogenicity	Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Condition: not provided Li-Fraumeni syndrome 1 Adrenocortical carcinoma, hereditary	Criteria Provided Conflicting Classifications	CA287488714	rs_863224683	5 SubmittersRCV000536061 RCV000565366 RCV000759374 RCV002289731 RCV003459202
NM_000546.6(TP53):c.1104C>G (p.His368Gln)	SNV Germline	Chr17:7669687	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Li-Fraumeni syndrome 1 Adrenocortical carcinoma, hereditary	Criteria Provided Conflicting Classifications	CA397830872	rs_1289241865	4 SubmittersRCV000575539 RCV000798387 RCV002289832 RCV004569245
NM_000546.6(TP53):c.533A>C (p.His178Pro)	SNV Germline	Chr17:7675079	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Adrenocortical carcinoma, hereditary	Criteria Provided Conflicting Classifications	CA397841366	rs_1555526004	3 SubmittersRCV000562255 RCV001216080 RCV003476347
NM_000546.6(TP53):c.974G>A (p.Gly325Glu)	SNV Germline	Chr17:7673554	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Adrenocortical carcinoma, hereditary	Criteria Provided Conflicting Classifications	CA397835817	rs_121912659	5 SubmittersRCV000566077 RCV001217424 RCV003476325
NM_000546.6(TP53):c.375G>C (p.Thr125=)	SNV Germline/somatic	Chr17:7675994	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Condition: not provided Li-Fraumeni syndrome TP53-related disorder Adrenocortical carcinoma, hereditary Li-Fraumeni syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA497926317	rs_55863639	6 SubmittersRCV000570944 RCV002508940 RCV003509563 RCV003403351 RCV003476320 RCV004024459
NM_000546.6(TP53):c.1064C>T (p.Ala355Val)	SNV Germline	Chr17:7670645	Conflicting classifications of pathogenicity	Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1 Adrenocortical carcinoma, hereditary	Criteria Provided Conflicting Classifications	CA397832139	rs_1555524382	5 SubmittersRCV000633335 RCV001009801 RCV002289921 RCV004568384
NM_000546.6(TP53):c.499C>T (p.Gln167Ter)	SNV Germline	Chr17:7675113	Pathogenic/Likely pathogenic	Li-Fraumeni syndrome Li-Fraumeni syndrome 1 Condition: not provided Hereditary cancer-predisposing syndrome Adrenocortical carcinoma, hereditary	Criteria Provided Multiple Submitters No Conflicts	CA397841811	rs_1555526097	9 SubmittersRCV000633353 RCV000663165 RCV000657587 RCV001023383 RCV003471978
NM_000546.6(TP53):c.378C>G (p.Tyr126Ter)	SNV Germline/somatic	Chr17:7675234	Pathogenic/Likely pathogenic	Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Adrenal cortex carcinoma Adrenocortical carcinoma, hereditary Li-Fraumeni syndrome 1 Gastric cancer	Criteria Provided Multiple Submitters No Conflicts		rs_1567554500	6 SubmittersRCV000702157 RCV002343542 RCV003999725 RCV003472237 RCV004026584 RCV003165877
NM_000546.6(TP53):c.919+1G>A	SNV Germline/somatic	Chr17:7673700	Likely pathogenic	Li-Fraumeni syndrome 1 Li-Fraumeni syndrome Condition: not provided Adrenocortical carcinoma, hereditary Hereditary cancer-predisposing syndrome	Reviewed By Expert Panel		rs_1131691039	7 SubmittersRCV000782136 RCV000991150 RCV001578272 RCV003992389 RCV003307417
NM_000546.6(TP53):c.808T>C (p.Phe270Leu)	SNV Germline/somatic	Chr17:7673812	Conflicting classifications of pathogenicity	Neoplasm of ovary Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Breast and/or ovarian cancer Li-Fraumeni syndrome 1 Adrenocortical carcinoma, hereditary	Criteria Provided Conflicting Classifications		rs_1057519988	6 SubmittersRCV000785520 RCV001321223 RCV002422673 RCV003492171 RCV004027353 RCV004569494
NM_000546.6(TP53):c.711G>T (p.Met237Ile)	SNV Germline/somatic	Chr17:7674252	Pathogenic/Likely pathogenic	Neoplasm of ovary Hereditary cancer-predisposing syndrome Malignant tumor of urinary bladder Adrenocortical carcinoma, hereditary Li-Fraumeni syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_587782664	5 SubmittersRCV000785508 RCV002370058 RCV003332249 RCV003472321 RCV003509608
NM_000546.6(TP53):c.560-1G>A	SNV Germline/somatic	Chr17:7674972	Pathogenic	Neoplasm of ovary Condition: not provided Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Adrenocortical carcinoma, hereditary Li-Fraumeni syndrome 1	Criteria Provided Multiple Submitters No Conflicts		rs_1202793339	6 SubmittersRCV000785507 RCV000786832 RCV001024314 RCV002535728 RCV003472320 RCV004027349
NM_000546.6(TP53):c.346T>G (p.Ser116Ala)	SNV Germline	Chr17:7676023	Conflicting classifications of pathogenicity	Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1 Condition: not provided Adrenocortical carcinoma, hereditary	Criteria Provided Conflicting Classifications		rs_989692988	5 SubmittersRCV000804275 RCV001020381 RCV002290445 RCV003478506 RCV004569609
NM_000546.6(TP53):c.97-11C>G	SNV Germline	Chr17:7676283	Pathogenic	Li-Fraumeni syndrome Adrenocortical carcinoma, hereditary	Criteria Provided Multiple Submitters No Conflicts		rs_769697802	2 SubmittersRCV000791519 RCV003472330
NM_000546.6(TP53):c.183T>A (p.Asp61Glu)	SNV Germline	Chr17:7676186	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Li-Fraumeni syndrome 1 Adrenocortical carcinoma, hereditary	Criteria Provided Conflicting Classifications		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		rs_768046010	4 SubmittersRCV001059236 RCV002402425 RCV003462579
NM_000546.6(TP53):c.272G>A (p.Trp91Ter)	SNV Germline	Chr17:7676097	Pathogenic/Likely pathogenic	Li-Fraumeni syndrome Adrenocortical carcinoma, hereditary	Criteria Provided Multiple Submitters No Conflicts		rs_2073465664	3 SubmittersRCV001258110 RCV003473842
NM_000546.6(TP53):c.993+2T>C	SNV Germline/somatic	Chr17:7673533	Pathogenic/Likely pathogenic	Condition: not provided Li-Fraumeni syndrome Adrenocortical carcinoma, hereditary	Criteria Provided Multiple Submitters No Conflicts		rs_1597359053	3 SubmittersRCV001553782 RCV003621596 RCV004571059
NM_000546.6(TP53):c.440T>A (p.Val147Asp)	SNV Germline	Chr17:7675172	Conflicting classifications of pathogenicity	Li-Fraumeni syndrome Adrenocortical carcinoma, hereditary Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications		rs_1453167097	3 SubmittersRCV002051460 RCV003464164 RCV004038887
NM_000546.6(TP53):c.406C>T (p.Gln136Ter)	SNV Germline	Chr17:7675206	Pathogenic	Li-Fraumeni syndrome Adrenocortical carcinoma, hereditary Li-Fraumeni syndrome 1	Criteria Provided Multiple Submitters No Conflicts			3 SubmittersRCV002569348 RCV003475387 RCV004067553
NM_000546.6(TP53):c.799C>G (p.Arg267Gly)	SNV Germline	Chr17:7673821	Pathogenic	Hereditary cancer-predisposing syndrome Adrenocortical carcinoma, hereditary	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV002419114 RCV003464488
NM_000546.6(TP53):c.251C>T (p.Ala84Val)	SNV Germline	Chr17:7676118	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Adrenocortical carcinoma, hereditary	Criteria Provided Conflicting Classifications			3 SubmittersRCV002433030 RCV004017935 RCV004571148
NM_000546.6(TP53):c.627A>C (p.Arg209Ser)	SNV Germline	Chr17:7674904	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Adrenocortical carcinoma, hereditary	Criteria Provided Conflicting Classifications			2 SubmittersRCV003177174 RCV004572869
NM_000546.6(TP53):c.1171G>A (p.Asp391Asn)	SNV Germline	Chr17:7669620	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Adrenocortical carcinoma, hereditary	Criteria Provided Conflicting Classifications			2 SubmittersRCV004518764 RCV004573481