Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_007194.4(CHEK2):c.470T>C (p.Ile157Thr)	SNV Germline	Chr22:28725099	Conflicting classifications of pathogenicity; risk factor	Li-Fraumeni syndrome 2 Hereditary cancer-predisposing syndrome not specified Familial cancer of breast Condition: not provided Breast and colorectal cancer, susceptibility to Adrenal cortex carcinoma Gastrointestinal carcinoma Breast and/or ovarian cancer Li-Fraumeni syndrome 2 Malignant tumor of prostate Familial cancer of breast Bone osteosarcoma Malignant tumor of breast Li-Fraumeni syndrome 2 Colorectal cancer Malignant tumor of prostate Familial cancer of breast Bone osteosarcoma TUMOR PREDISPOSITION SYNDROME 4, BREAST/PROSTATE/COLORECTAL Malignant tumor of prostate Predisposition to cancer CHEK2-related disorder CHEK2-related cancer predisposition	Criteria Provided Conflicting Classifications	CA117630	rs_17879961	41 SubmittersRCV000005936 RCV000116018 RCV000120555 RCV000144596 RCV000212410 RCV000210131 RCV000626718 RCV001797993 RCV002054420 RCV001358111 RCV003224091 RCV003333685 RCV003447470 RCV002254675 RCV004528085 RCV004556709
NM_007194.4(CHEK2):c.433C>T (p.Arg145Trp)	SNV Germline	Chr22:28725254	Likely pathogenic	Li-Fraumeni syndrome 2 Hereditary cancer-predisposing syndrome not specified Familial cancer of breast Condition: not provided Li-Fraumeni syndrome Malignant tumor of breast Gastric cancer Li-Fraumeni syndrome 1 CHEK2-related cancer predisposition Breast and/or ovarian cancer	Criteria Provided Multiple Submitters No Conflicts	CA117632	rs_137853007	29 SubmittersRCV000005940 RCV000116016 RCV000120554 RCV000197612 RCV000505730 RCV000587420 RCV001358124 RCV003162212 RCV003224854 RCV004556710 RCV003149565
NM_007194.4(CHEK2):c.542G>A (p.Arg181His)	SNV Germline	Chr22:28725027	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome Familial cancer of breast Hereditary breast ovarian cancer syndrome Li-Fraumeni syndrome 2 Malignant tumor of prostate Familial cancer of breast Bone osteosarcoma not specified Malignant tumor of breast Li-Fraumeni syndrome 2 Breast and/or ovarian cancer Malignant tumor of prostate CHEK2-related cancer predisposition	Criteria Provided Conflicting Classifications	CA117641	rs_121908701	20 SubmittersRCV000114761 RCV000129670 RCV000233960 RCV001030688 RCV000765623 RCV001193685 RCV001357854 RCV001294022 RCV001797995 RCV003333687 RCV004556711
NM_007194.4(CHEK2):c.1283C>T (p.Ser428Phe)	SNV Germline	Chr22:28695219	Pathogenic/Likely pathogenic/Pathogenic, low penetrance/Established risk allele	Breast cancer, susceptibility to Hereditary cancer-predisposing syndrome Familial cancer of breast Breast neoplasm Breast and colorectal cancer, susceptibility to Condition: not provided Li-Fraumeni syndrome 2 Malignant tumor of prostate Familial cancer of breast Bone osteosarcoma Hereditary breast ovarian cancer syndrome Malignant tumor of breast CHEK2-related cancer risk TUMOR PREDISPOSITION SYNDROME 4, BREAST Breast and/or ovarian cancer CHEK2-related disorder CHEK2-related cancer predisposition	Criteria Provided Multiple Submitters No Conflicts	CA250528	rs_137853011	33 SubmittersRCV000005953 RCV000115994 RCV000197718 RCV000388223 RCV000210180 RCV000212459 RCV000515286 RCV000586482 RCV001354412 RCV001449813 RCV003333691 RCV003492287 RCV004532295 RCV004556712
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.772G>A (p.Glu258Lys)	SNV Germline/somatic	Chr17:7674191	Pathogenic/Likely pathogenic	Li-Fraumeni syndrome 1 Condition: not provided not specified Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Neoplasm of ovary	Criteria Provided Multiple Submitters No Conflicts	CA000406	rs_121912652	9 SubmittersRCV000013141 RCV000161071 RCV000582699 RCV000772122 RCV000792895 RCV000785291
NM_000546.6(TP53):c.733G>T (p.Gly245Cys)	SNV Germline/somatic	Chr17:7674230	Pathogenic	Li-Fraumeni syndrome 1 Condition: not provided Uterine carcinosarcoma Transitional cell carcinoma of the bladder Prostate adenocarcinoma Breast neoplasm Squamous cell carcinoma of the head and neck Carcinoma of esophagus Glioblastoma Hepatocellular carcinoma Pancreatic adenocarcinoma Hereditary cancer-predisposing syndrome Neoplasm of brain Lung adenocarcinoma Neoplasm of the large intestine Ovarian serous cystadenocarcinoma Gastric adenocarcinoma Squamous cell lung carcinoma Li-Fraumeni syndrome Brainstem glioma Breast and/or ovarian cancer	Criteria Provided Multiple Submitters No Conflicts	CA000369	rs_28934575	8 SubmittersRCV000013142 RCV000161025 RCV000417593 RCV000426090 RCV000430002 RCV000419737 RCV000436186 RCV000440197 RCV000425471 RCV000441334 RCV000428895 RCV000492412 RCV000440886 RCV000418673 RCV000443435 RCV000423577 RCV000424262 RCV000436330 RCV000633397 RCV000434535 RCV001271056
NM_000546.6(TP53):c.755T>C (p.Leu252Pro)	SNV Germline	Chr17:7674208	Conflicting classifications of pathogenicity	Li-Fraumeni syndrome 1 Li-Fraumeni syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA000398	rs_121912653	3 SubmittersRCV000013143 RCV001213570 RCV003237412
NM_000546.6(TP53):c.747G>T (p.Arg249Ser)	SNV Germline/somatic	Chr17:7674216	Pathogenic/Likely pathogenic	Hepatocellular carcinoma Cervical cancer Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Squamous cell carcinoma of the head and neck Condition: not provided Neoplasm of ovary Adrenal cortex carcinoma Li-Fraumeni syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA000392	rs_28934571	11 SubmittersRCV000013145 RCV000013146 RCV000464372 RCV000579519 RCV001270276 RCV001562247 RCV000785491 RCV003996089 RCV004018617
NM_000546.6(TP53):c.469G>T (p.Val157Phe)	SNV Germline/somatic	Chr17:7675143	Conflicting classifications of pathogenicity	Hepatocellular carcinoma Hereditary cancer-predisposing syndrome Neoplasm of ovary Li-Fraumeni syndrome 1 Li-Fraumeni syndrome Squamous cell carcinoma	Criteria Provided Conflicting Classifications	CA000222	rs_121912654	8 SubmittersRCV000013147 RCV000566103 RCV000785500 RCV001823095 RCV000794324 RCV003128570
NM_000546.6(TP53):c.725G>A (p.Cys242Tyr)	SNV Germline/somatic	Chr17:7674238	Pathogenic/Likely pathogenic	Li-fraumeni-like syndrome Hereditary cancer-predisposing syndrome Gastric adenocarcinoma Transitional cell carcinoma of the bladder Squamous cell carcinoma of the head and neck Hepatocellular carcinoma Glioblastoma B-cell chronic lymphocytic leukemia Uterine carcinosarcoma Lung adenocarcinoma Li-Fraumeni syndrome Squamous cell lung carcinoma Neoplasm of ovary Breast neoplasm Carcinoma of esophagus Li-Fraumeni syndrome 1 Condition: not provided Familial cancer of breast	Criteria Provided Multiple Submitters No Conflicts	CA000361	rs_121912655	11 SubmittersRCV000013148 RCV000129809 RCV000419614 RCV000424935 RCV000432119 RCV000436867 RCV000442015 RCV000426292 RCV000430302 RCV000425602 RCV000231770 RCV000419041 RCV000785282 RCV000436295 RCV000440992 RCV002288484 RCV003314552 RCV002247332
NM_000546.6(TP53):c.734G>A (p.Gly245Asp)	SNV Germline/somatic	Chr17:7674229	Pathogenic/Likely pathogenic	Li-Fraumeni syndrome 1 Hereditary cancer-predisposing syndrome 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.398T>C (p.Met133Thr)	SNV Germline	Chr17:7675214	Pathogenic	Li-Fraumeni syndrome 1 Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome	Criteria Provided Multiple Submitters No Conflicts	CA000158	rs_28934873	4 SubmittersRCV000013151 RCV000492130 RCV001383051
NM_000546.6(TP53):c.814G>T (p.Val272Leu)	SNV Germline/somatic	Chr17:7673806	Likely pathogenic	Li-Fraumeni syndrome 1 Hereditary cancer-predisposing syndrome Squamous cell carcinoma of the skin Medulloblastoma Multiple myeloma Li-Fraumeni syndrome Breast neoplasm Gastric adenocarcinoma Squamous cell carcinoma of the head and neck Transitional cell carcinoma of the bladder Neoplasm of the large intestine Ovarian serous cystadenocarcinoma Pancreatic adenocarcinoma Papillary renal cell carcinoma type 1 Lung adenocarcinoma Malignant neoplasm of body of uterus	Criteria Provided Multiple Submitters No Conflicts	CA000430	rs_121912657	6 SubmittersRCV000013152 RCV000164988 RCV000427077 RCV000437706 RCV000443589 RCV001221969 RCV000420507 RCV000417682 RCV000426429 RCV000428361 RCV000431193 RCV000432989 RCV000434905 RCV000437100 RCV000439021 RCV000443570
NM_000546.6(TP53):c.722C>T (p.Ser241Phe)	SNV Germline/somatic	Chr17:7674241	Pathogenic/Likely pathogenic	Hepatoblastoma Bone osteosarcoma Hereditary cancer-predisposing syndrome Non-Hodgkin lymphoma Brainstem glioma Uterine carcinosarcoma Papillary renal cell carcinoma, sporadic Neoplasm of brain Gallbladder carcinoma Squamous cell carcinoma of the skin Carcinoma of esophagus Breast neoplasm Malignant neoplasm of body of uterus Malignant melanoma of skin Neoplasm of the large intestine Pancreatic adenocarcinoma Ovarian serous cystadenocarcinoma Squamous cell carcinoma of the head and neck Lung adenocarcinoma Glioblastoma Transitional cell carcinoma of the bladder Papillary renal cell carcinoma type 1 Li-Fraumeni syndrome Li-Fraumeni syndrome 1 Neoplasm of ovary 12 conditions Lip and oral cavity carcinoma Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA000359	rs_28934573	11 SubmittersRCV000013153 RCV000013154 RCV000130168 RCV000418653 RCV000421750 RCV000426907 RCV000430665 RCV000433125 RCV000441622 RCV000417576 RCV000422867 RCV000423921 RCV000435867 RCV000429321 RCV000436959 RCV000438965 RCV000441398 RCV000426268 RCV000428255 RCV000434173 RCV000436527 RCV000444801 RCV000559355 RCV002288485 RCV000785290 RCV002496336 RCV001255673 RCV003114189
NM_000546.6(TP53):c.844C>T (p.Arg282Trp)	SNV Germline/somatic	Chr17:7673776	Pathogenic/Likely pathogenic	Li-fraumeni-like syndrome Li-Fraumeni syndrome 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.974G>T (p.Gly325Val)	SNV Germline	Chr17:7673554	Conflicting classifications of pathogenicity	Non-Hodgkin lymphoma Familial colorectal cancer Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA000516	rs_121912659	7 SubmittersRCV000013165 RCV000013166 RCV000131411 RCV000232570 RCV001508433
NM_000546.6(TP53):c.839G>C (p.Arg280Thr)	SNV Germline/somatic	Chr17:7673781	Pathogenic/Likely pathogenic	Nasopharyngeal carcinoma Hepatocellular carcinoma Squamous cell carcinoma of the head and neck Squamous cell carcinoma of the skin Gastric adenocarcinoma Malignant melanoma of skin Neoplasm of brain Ovarian serous cystadenocarcinoma Transitional cell carcinoma of the bladder Squamous cell lung carcinoma Li-Fraumeni syndrome Lung adenocarcinoma Carcinoma of esophagus Breast neoplasm Acute myeloid leukemia Nasopharyngeal neoplasm Uterine carcinosarcoma Small cell lung carcinoma Neoplasm of uterine cervix Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1 Malignant tumor of urinary bladder	Criteria Provided Multiple Submitters No Conflicts	CA000445	rs_121912660	7 SubmittersRCV000013167 RCV000420086 RCV000424688 RCV000429718 RCV000432461 RCV000434981 RCV000440816 RCV000428404 RCV000431210 RCV000432716 RCV000198779 RCV000441513 RCV000445307 RCV000422958 RCV000423074 RCV000437764 RCV000441912 RCV000418209 RCV000422446 RCV002433452 RCV004018618 RCV003332081
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.451C>T (p.Pro151Ser)	SNV Germline/somatic	Chr17:7675161	Pathogenic/Likely pathogenic	Breast adenocarcinoma Condition: not provided Hereditary cancer-predisposing syndrome Neoplasm of the large intestine Neoplasm of brain Multiple myeloma Lung adenocarcinoma Uterine carcinosarcoma Squamous cell lung carcinoma Carcinoma of esophagus Malignant neoplasm of body of uterus Hepatocellular carcinoma Pancreatic adenocarcinoma Li-Fraumeni syndrome Malignant melanoma of skin Gastric adenocarcinoma Ovarian serous cystadenocarcinoma Adenoid cystic carcinoma Squamous cell carcinoma of the head and neck Breast neoplasm Transitional cell carcinoma of the bladder Neoplasm of ovary Rhabdomyosarcoma Li-Fraumeni syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA000200	rs_28934874	9 SubmittersRCV000013169 RCV000079203 RCV000219702 RCV000429847 RCV000435681 RCV000426058 RCV000427411 RCV000431507 RCV000438074 RCV000421928 RCV000422996 RCV000443020 RCV000440887 RCV000633355 RCV000420199 RCV000420869 RCV000424996 RCV000432585 RCV000433689 RCV000440140 RCV000443379 RCV000785532 RCV001257523 RCV002288487
NM_000546.6(TP53):c.770T>A (p.Leu257Gln)	SNV Germline/somatic	Chr17:7674193	Conflicting classifications of pathogenicity	Li-fraumeni-like syndrome Neoplasm of ovary Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA000402	rs_28934577	4 SubmittersRCV000013171 RCV000785553 RCV000469142 RCV002399320
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.412G>C (p.Ala138Pro)	SNV Germline	Chr17:7675200	Pathogenic/Likely pathogenic	Li-Fraumeni syndrome 1 Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome	Criteria Provided Multiple Submitters No Conflicts	CA000166	rs_28934875	3 SubmittersRCV000013175 RCV002326677 RCV000461233
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.566C>T (p.Ala189Val)	SNV Germline	Chr17:7674965	Conflicting classifications of pathogenicity	Familial colorectal cancer Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1 not specified Hereditary breast ovarian cancer syndrome Li-Fraumeni syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA000270	rs_121912665	11 SubmittersRCV000013182 RCV000132058 RCV000144671 RCV001192620 RCV001030736 RCV000536677 RCV003476892
NM_000546.6(TP53):c.659A>C (p.Tyr220Ser)	SNV Germline/somatic	Chr17:7674872	Pathogenic	Li-Fraumeni syndrome 1 Breast neoplasm Malignant neoplasm of body of uterus Neoplasm of the large intestine Hepatocellular carcinoma Pancreatic adenocarcinoma Papillary renal cell carcinoma type 1 Malignant melanoma of skin Ovarian serous cystadenocarcinoma Transitional cell carcinoma of the bladder Papillary renal cell carcinoma, sporadic Glioblastoma Gastric adenocarcinoma Li-Fraumeni syndrome Squamous cell lung carcinoma Lung adenocarcinoma Neoplasm of ovary Squamous cell carcinoma of the head and neck Prostate adenocarcinoma Small cell lung carcinoma Uterine carcinosarcoma Neoplasm of brain Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA000314	rs_121912666	6 SubmittersRCV000013183 RCV000429097 RCV000435597 RCV000441465 RCV000423167 RCV000424238 RCV000417473 RCV000432708 RCV000425300 RCV000436486 RCV000441285 RCV000444276 RCV000445060 RCV000472593 RCV000418406 RCV000422874 RCV000785481 RCV000425801 RCV000428157 RCV000430581 RCV000433786 RCV000443214 RCV003162249
NM_000546.6(TP53):c.854A>T (p.Glu285Val)	SNV Germline	Chr17:7673766	Pathogenic	Adrenocortical carcinoma, pediatric Choroid plexus carcinoma Li-Fraumeni syndrome	Criteria Provided Single Submitter	CA000463	rs_121912667	2 SubmittersRCV000013184 RCV000013185 RCV000813961
NM_000546.6(TP53):c.*1175A>C	SNV Germline	Chr17:7668434	Conflicting classifications of pathogenicity	Basal cell carcinoma, susceptibility to, 7 Li-Fraumeni syndrome 1 Hereditary cancer-predisposing syndrome Condition: not provided TP53-related disorder	Criteria Provided Conflicting Classifications	CA000049	rs_78378222	7 SubmittersRCV000029217 RCV000412103 RCV000492363 RCV002262575 RCV003914864
NM_000546.6(TP53):c.31G>C (p.Glu11Gln)	SNV Germline	Chr17:7676564	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome not specified Hereditary breast ovarian cancer syndrome Li-Fraumeni syndrome 1 TP53-related disorder	Criteria Provided Conflicting Classifications	CA000106	rs_201382018	15 SubmittersRCV000034640 RCV000161016 RCV000226569 RCV000213044 RCV001030742 RCV001124310 RCV003924896
NM_000546.6(TP53):c.1040C>A (p.Ala347Asp)	SNV Germline	Chr17:7670669	Likely pathogenic	not specified Condition: not provided Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1	Reviewed By Expert Panel	CA000022	rs_397516434	7 SubmittersRCV000036529 RCV000255021 RCV000468537 RCV000492626 RCV003315555
NM_000546.6(TP53):c.586C>T (p.Arg196Ter)	SNV Germline/somatic	Chr17:7674945	Pathogenic	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.637C>T (p.Arg213Ter)	SNV Germline/somatic	Chr17:7674894	Pathogenic	Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1 Condition: not provided Neoplasm of ovary Squamous cell carcinoma of the head and neck Familial cancer of breast Colorectal cancer	Criteria Provided Multiple Submitters No Conflicts	CA000301	rs_397516436	14 SubmittersRCV000036532 RCV000115730 RCV000144672 RCV000213050 RCV000785330 RCV001270263 RCV001270264 RCV001270265
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.920-2A>G	SNV Germline/somatic	Chr17:7673610	Pathogenic/Likely pathogenic	Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Condition: not provided Neoplasm of ovary Breast and/or ovarian cancer Li-Fraumeni syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA000500	rs_397516439	10 SubmittersRCV000036537 RCV000132190 RCV000483617 RCV000785489 RCV001798102 RCV002288536
NM_000546.6(TP53):c.672G>A (p.Glu224=)	SNV Germline	Chr17:7674859	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Condition: not provided Li-Fraumeni syndrome Li-Fraumeni syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA000328	rs_267605076	5 SubmittersRCV000567974 RCV000786830 RCV000800846 RCV002288559
NM_000546.6(TP53):c.892G>T (p.Glu298Ter)	SNV Germline/somatic	Chr17:7673728	Pathogenic	Condition: not provided Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Neoplasm of ovary Rhabdomyosarcoma Li-Fraumeni syndrome 1	Reviewed By Expert Panel	CA000484	rs_201744589	7 SubmittersRCV000079204 RCV000216964 RCV000559898 RCV000785528 RCV001257516 RCV004019532
NM_000546.6(TP53):c.587G>T (p.Arg196Leu)	SNV Germline/somatic	Chr17:7674944	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1 Li-Fraumeni syndrome	Criteria Provided Conflicting Classifications	CA000284	rs_483352697	5 SubmittersRCV000087172 RCV001024636 RCV001523825 RCV002514536
NM_000546.6(TP53):c.736A>G (p.Met246Val)	SNV Germline/somatic	Chr17:7674227	Pathogenic/Likely pathogenic	Condition: not provided Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Neoplasm of ovary Li-Fraumeni syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA000374	rs_483352695	7 SubmittersRCV000087173 RCV000161036 RCV000460370 RCV000785556 RCV002288585
NM_007194.4(CHEK2):c.1336A>G (p.Asn446Asp)	SNV Germline	Chr22:28695166	Conflicting classifications of pathogenicity	Condition: not provided Familial cancer of breast not specified Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 2 Bone osteosarcoma Malignant tumor of prostate Familial cancer of breast Malignant tumor of breast Breast and/or ovarian cancer CHEK2-related cancer predisposition	Criteria Provided Conflicting Classifications	CA230682	rs_121908705	16 SubmittersRCV000114765 RCV000196666 RCV000160437 RCV000449435 RCV000515378 RCV001356532 RCV001798305 RCV004556718
NM_007194.4(CHEK2):c.1421G>A (p.Arg474His)	SNV Germline	Chr22:28694072	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome Familial cancer of breast Breast and/or ovarian cancer Li-Fraumeni syndrome 2	Criteria Provided Conflicting Classifications	CA230684	rs_121908706	16 SubmittersRCV000114766 RCV000116000 RCV000206096 RCV003492448 RCV003387763
NM_000546.6(TP53):c.173C>G (p.Pro58Arg)	SNV Germline	Chr17:7676196	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome not specified Li-Fraumeni syndrome 1 Condition: not provided Li-Fraumeni syndrome Breast and/or ovarian cancer TP53-related disorder	Criteria Provided Conflicting Classifications	CA000061	rs_144386518	13 SubmittersRCV000115715 RCV000122181 RCV000662515 RCV000586104 RCV001086750 RCV003492489 RCV003952551
NM_000546.6(TP53):c.248C>T (p.Ala83Val)	SNV Germline	Chr17:7676121	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1 Condition: not provided Li-Fraumeni syndrome not specified TP53-related disorder	Criteria Provided Conflicting Classifications	CA000083	rs_201717599	10 SubmittersRCV000115716 RCV000409540 RCV000679367 RCV001082818 RCV001796963 RCV003891612
NM_000546.6(TP53):c.466C>T (p.Arg156Cys)	SNV Germline	Chr17:7675146	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Li-Fraumeni syndrome Li-Fraumeni syndrome 1 11 conditions not specified Adrenocortical carcinoma, hereditary	Criteria Provided Conflicting Classifications	CA000214	rs_563378859	12 SubmittersRCV000115721 RCV000213051 RCV000232885 RCV000409094 RCV000764146 RCV002465516 RCV003467058
NM_000546.6(TP53):c.472C>T (p.Arg158Cys)	SNV Germline/somatic	Chr17:7675140	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Li-Fraumeni syndrome Lip and oral cavity carcinoma Li-Fraumeni syndrome 1 Hereditary breast ovarian cancer syndrome	Criteria Provided Conflicting Classifications	CA000225	rs_587780068	11 SubmittersRCV000115723 RCV000508084 RCV000533951 RCV001255633 RCV002288596 RCV003483477
NM_000546.6(TP53):c.488A>G (p.Tyr163Cys)	SNV Germline/somatic	Chr17:7675124	Pathogenic	Condition: not provided Uterine carcinosarcoma Lung adenocarcinoma Neoplasm of brain Neoplasm of the large intestine Breast neoplasm Malignant melanoma of skin Ovarian serous cystadenocarcinoma Li-Fraumeni syndrome Squamous cell lung carcinoma Small cell lung carcinoma Pancreatic adenocarcinoma Carcinoma of esophagus Squamous cell carcinoma of the head and neck Hepatocellular carcinoma Brainstem glioma Hereditary cancer-predisposing syndrome Neoplasm of ovary Li-Fraumeni syndrome 1	Reviewed By Expert Panel	CA000240	rs_148924904	7 SubmittersRCV000115725 RCV000427698 RCV000434917 RCV000443742 RCV000419252 RCV000430191 RCV000434251 RCV000442798 RCV000526324 RCV000423543 RCV000424864 RCV000429510 RCV000435593 RCV000443833 RCV000419946 RCV000436926 RCV000492788 RCV000785334 RCV004019613
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.580C>T (p.Leu194Phe)	SNV Germline/somatic	Chr17:7674951	Pathogenic/Likely pathogenic	Condition: not provided Glioblastoma Breast neoplasm Ovarian serous cystadenocarcinoma Neoplasm of uterine cervix Pancreatic adenocarcinoma Lung adenocarcinoma Neoplasm of brain Neoplasm of the large intestine Hepatocellular carcinoma Transitional cell carcinoma of the bladder Squamous cell carcinoma of the head and neck Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1 Adrenal cortex carcinoma	Criteria Provided Multiple Submitters No Conflicts	CA000278	rs_587780071	7 SubmittersRCV000115728 RCV000419908 RCV000417813 RCV000418414 RCV000421548 RCV000426684 RCV000428029 RCV000429595 RCV000439186 RCV000434383 RCV000436065 RCV000439843 RCV001377420 RCV002288599 RCV002288598 RCV003997297
NM_000546.6(TP53):c.604C>T (p.Arg202Cys)	SNV Germline	Chr17:7674927	Conflicting classifications of pathogenicity	Condition: not provided Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1 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.701A>G (p.Tyr234Cys)	SNV Germline/somatic	Chr17:7674262	Pathogenic/Likely pathogenic	Condition: not provided Li-Fraumeni syndrome Glioblastoma Hepatocellular carcinoma Gastric adenocarcinoma Small cell lung carcinoma Neoplasm of the large intestine Transitional cell carcinoma of the bladder Prostate adenocarcinoma Pancreatic adenocarcinoma Ovarian serous cystadenocarcinoma Squamous cell lung carcinoma Hereditary cancer-predisposing syndrome Breast neoplasm Carcinoma of esophagus Adrenal cortex carcinoma Squamous cell carcinoma of the head and neck Neoplasm of ovary Li-Fraumeni syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA000337	rs_587780073	10 SubmittersRCV000115732 RCV000200601 RCV000420460 RCV000430670 RCV000444325 RCV000444475 RCV000425220 RCV000425854 RCV000432406 RCV000433924 RCV000435287 RCV000445147 RCV000492245 RCV000420651 RCV000422171 RCV000435258 RCV000438314 RCV000785536 RCV001808343
NM_000546.6(TP53):c.737T>G (p.Met246Arg)	SNV Germline	Chr17:7674226	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome	Criteria Provided Conflicting Classifications	CA000376	rs_587780074	3 SubmittersRCV000115734 RCV002381420 RCV001344441
NM_000546.6(TP53):c.91G>A (p.Val31Ile)	SNV Germline	Chr17:7676387	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome not specified Li-Fraumeni syndrome Li-Fraumeni syndrome 1 Hereditary breast ovarian cancer syndrome Condition: not provided Breast and/or ovarian cancer TP53-related disorder	Criteria Provided Conflicting Classifications	CA357868	rs_201753350	16 SubmittersRCV000115742 RCV000122173 RCV000123100 RCV000409871 RCV001030741 RCV000586196 RCV003492490 RCV003945046
NM_007194.4(CHEK2):c.-6G>A	SNV Germline	Chr22:28734727	Conflicting classifications of pathogenicity	Familial cancer of breast Condition: not provided not specified Malignant tumor of breast Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 2 Bone osteosarcoma Malignant tumor of prostate Familial cancer of breast Colorectal cancer CHEK2-related disorder	Criteria Provided Conflicting Classifications	CA288250	rs_376995740	10 SubmittersRCV000197200 RCV000590166 RCV000722128 RCV001357979 RCV000776065 RCV003224152 RCV004542827
NM_007194.4(CHEK2):c.1111C>T (p.His371Tyr)	SNV Germline/somatic	Chr22:28695858	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome not specified Familial cancer of breast Condition: not provided Breast neoplasm Malignant tumor of breast Familial cancer of breast Neoplasm of ovary Lung cancer Hereditary breast ovarian cancer syndrome Bone osteosarcoma CHEK2-related disorder Li-Fraumeni syndrome 2 Bone osteosarcoma Malignant tumor of prostate Familial cancer of breast Colorectal cancer	Criteria Provided Conflicting Classifications	CA288254	rs_531398630	18 SubmittersRCV000115982 RCV000212449 RCV000197709 RCV000656834 RCV000677873 RCV001355387 RCV001527478 RCV001030625 RCV003448266 RCV004529939 RCV002477284
NM_007194.4(CHEK2):c.1133C>T (p.Thr378Ile)	SNV Germline	Chr22:28695836	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Familial cancer of breast Condition: not provided Li-Fraumeni syndrome 2 Bone osteosarcoma Malignant tumor of prostate Familial cancer of breast not specified CHEK2-related disorder	Criteria Provided Conflicting Classifications	CA288258	rs_587780167	13 SubmittersRCV000115984 RCV000231285 RCV000656835 RCV000764376 RCV001420894 RCV004529940
NM_007194.4(CHEK2):c.1215C>A (p.Asn405Lys)	SNV Germline	Chr22:28695754	Conflicting classifications of pathogenicity	Condition: not provided Familial cancer of breast Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 2 Familial cancer of breast Bone osteosarcoma Malignant tumor of prostate	Criteria Provided Conflicting Classifications	CA288266	rs_587780171	10 SubmittersRCV000115989 RCV000199599 RCV000219945 RCV000764373
NM_007194.4(CHEK2):c.1270T>C (p.Tyr424His)	SNV Germline	Chr22:28695232	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Familial cancer of breast Li-Fraumeni syndrome 2 Bone osteosarcoma Malignant tumor of prostate Familial cancer of breast Condition: not provided not specified Malignant tumor of breast CHEK2-related disorder Breast and/or ovarian cancer CHEK2-related cancer predisposition	Criteria Provided Conflicting Classifications	CA288272	rs_139366548	24 SubmittersRCV000115993 RCV000197909 RCV000515214 RCV000590008 RCV001175351 RCV001355460 RCV004528802 RCV003492501 RCV004556723
NM_007194.4(CHEK2):c.1312G>T (p.Asp438Tyr)	SNV Germline	Chr22:28695190	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome not specified Familial cancer of breast Condition: not provided Li-Fraumeni syndrome 2 Bone osteosarcoma Malignant tumor of prostate Familial cancer of breast Malignant tumor of breast Li-Fraumeni syndrome 2 Carcinoma of colon Breast and/or ovarian cancer Hereditary breast ovarian cancer syndrome CHEK2-related disorder Hereditary cancer CHEK2-related cancer predisposition	Criteria Provided Conflicting Classifications	CA151527	rs_200050883	33 SubmittersRCV000115996 RCV000200982 RCV000199565 RCV000587890 RCV000515311 RCV001269492 RCV001294021 RCV001356041 RCV001798350 RCV003483481 RCV004528803 RCV003492502 RCV004556724
NM_007194.4(CHEK2):c.1420C>T (p.Arg474Cys)	SNV Germline	Chr22:28694073	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Familial cancer of breast Lung carcinoma Familial cancer of breast Malignant tumor of prostate Carcinoma of colon Li-Fraumeni syndrome 2 Familial cancer of breast Bone osteosarcoma Malignant tumor of prostate Condition: not provided not specified Li-Fraumeni syndrome 2	Criteria Provided Conflicting Classifications	CA288280	rs_540635787	17 SubmittersRCV000115999 RCV000206044 RCV000234795 RCV000764370 RCV000588723 RCV002222396 RCV003493445
NM_007194.4(CHEK2):c.1427C>T (p.Thr476Met)	SNV Germline	Chr22:28694066	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Breast and colorectal cancer, susceptibility to Breast neoplasm Familial cancer of breast Colorectal cancer not specified Breast carcinoma Malignant tumor of breast Colon cancer CHEK2-related disorder Breast and/or ovarian cancer CHEK2-related cancer predisposition Li-Fraumeni syndrome 2	Criteria Provided Conflicting Classifications	CA288282	rs_142763740	45 SubmittersRCV000116001 RCV000212465 RCV000210077 RCV000317389 RCV000198554 RCV000259876 RCV000499890 RCV001572627 RCV001357877 RCV001564016 RCV004528804 RCV001798351 RCV004556725 RCV003444200
NM_007194.4(CHEK2):c.1525C>T (p.Pro509Ser)	SNV Germline	Chr22:28689152	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Familial cancer of breast Condition: not provided Li-Fraumeni syndrome 2 Bone osteosarcoma Malignant tumor of prostate Familial cancer of breast not specified CHEK2-related disorder Malignant tumor of prostate Familial cancer of breast Colorectal cancer	Criteria Provided Conflicting Classifications	CA288288	rs_587780179	14 SubmittersRCV000116004 RCV000200569 RCV000212472 RCV000764368 RCV000781300 RCV004528805 RCV003483482
NM_007194.4(CHEK2):c.1555C>T (p.Arg519Ter)	SNV Germline	Chr22:28687974	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Breast and colorectal cancer, susceptibility to Condition: not provided Hereditary breast ovarian cancer syndrome Familial cancer of breast Li-Fraumeni syndrome 2 Breast and/or ovarian cancer Gastric cancer	Criteria Provided Multiple Submitters No Conflicts	CA288290	rs_200432447	18 SubmittersRCV000116005 RCV000210124 RCV000212474 RCV000589100 RCV000471222 RCV001705822 RCV001798352 RCV003162543
NM_007194.4(CHEK2):c.1556G>T (p.Arg519Leu)	SNV Germline	Chr22:28687973	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Familial cancer of breast not specified Li-Fraumeni syndrome 2 Bone osteosarcoma Malignant tumor of prostate Familial cancer of breast Condition: not provided Predisposition to cancer Breast and/or ovarian cancer Malignant tumor of breast Hereditary cancer CHEK2-related disorder	Criteria Provided Conflicting Classifications	CA288294	rs_587780180	28 SubmittersRCV000116007 RCV000198277 RCV000212476 RCV000515321 RCV000586195 RCV002291560 RCV001798353 RCV001357730 RCV003492503 RCV004529941
NM_007194.4(CHEK2):c.190G>A (p.Glu64Lys)	SNV Germline	Chr22:28734532	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Familial cancer of breast Condition: not provided Breast and colorectal cancer, susceptibility to Malignant tumor of breast Breast and/or ovarian cancer Hereditary breast ovarian cancer syndrome Li-Fraumeni syndrome 2 Predisposition to cancer CHEK2-related cancer predisposition CHEK2-related disorder not specified	Criteria Provided Conflicting Classifications	CA288298	rs_141568342	32 SubmittersRCV000116009 RCV000199067 RCV000212407 RCV000210191 RCV001356247 RCV001270935 RCV002265610 RCV003338414 RCV003153376 RCV004556726 RCV004528806 RCV002465520
NM_007194.4(CHEK2):c.320-5T>A	SNV Germline	Chr22:28725372	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Familial cancer of breast not specified Li-Fraumeni syndrome 2 Familial cancer of breast Breast and/or ovarian cancer Hereditary cancer CHEK2-related cancer predisposition CHEK2-related disorder	Criteria Provided Conflicting Classifications	CA231722	rs_121908700	22 SubmittersRCV000116011 RCV000119289 RCV000195943 RCV000212412 RCV001171460 RCV001798354 RCV003492504 RCV004556727 RCV004528807
NM_007194.4(CHEK2):c.349A>G (p.Arg117Gly)	SNV Germline	Chr22:28725338	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Familial cancer of breast Condition: not provided Malignant tumor of breast Breast cancer, susceptibility to RECLASSIFIED - CDH1 POLYMORPHISM Hereditary breast ovarian cancer syndrome Li-Fraumeni syndrome 2 Breast and/or ovarian cancer Predisposition to cancer Li-Fraumeni syndrome 2 Bone osteosarcoma Malignant tumor of prostate Familial cancer of breast Colorectal cancer CHEK2-related cancer predisposition CHEK2-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA288301	rs_28909982	41 SubmittersRCV000116012 RCV000204429 RCV000212414 RCV001263516 RCV001258041 RCV001374534 RCV001787918 RCV001798355 RCV001526815 RCV002498498 RCV004556728 RCV003114263
NM_007194.4(CHEK2):c.444+1G>A	SNV Germline	Chr22:28725242	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Familial cancer of breast Condition: not provided Breast and colorectal cancer, susceptibility to Breast cancer, susceptibility to Li-Fraumeni syndrome 2 Bone osteosarcoma Malignant tumor of prostate Familial cancer of breast Breast and/or ovarian cancer Malignant tumor of breast Breast carcinoma Li-Fraumeni syndrome 2 Colorectal cancer Li-Fraumeni syndrome 2 Familial cancer of breast Melanoma Endometrial carcinoma TUMOR PREDISPOSITION SYNDROME 4, BREAST/PROSTATE CHEK2-related cancer predisposition	Criteria Provided Multiple Submitters No Conflicts	CA288309	rs_121908698	48 SubmittersRCV000116017 RCV000196718 RCV000212418 RCV000210090 RCV000501923 RCV000763475 RCV001270936 RCV001354639 RCV001554253 RCV001705823 RCV002463642 RCV001171461 RCV002508922 RCV003128145 RCV003333693 RCV004556730
NM_007194.4(CHEK2):c.479T>G (p.Ile160Arg)	SNV Germline	Chr22:28725090	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Familial cancer of breast Condition: not provided Li-Fraumeni syndrome 2 Predisposition to cancer	Criteria Provided Conflicting Classifications	CA288310	rs_72552323	8 SubmittersRCV000116019 RCV000464571 RCV000766748 RCV001292859 RCV003444201
NM_007194.4(CHEK2):c.480A>G (p.Ile160Met)	SNV Germline	Chr22:28725089	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Familial cancer of breast Breast and/or ovarian cancer not specified CHEK2-related disorder Li-Fraumeni syndrome 2 CHEK2-related cancer predisposition	Criteria Provided Conflicting Classifications	CA288312	rs_575910805	20 SubmittersRCV000116020 RCV000586231 RCV001005035 RCV001798357 RCV001549277 RCV004529942 RCV003387765 RCV004556731
NM_007194.4(CHEK2):c.917G>C (p.Gly306Ala)	SNV Germline	Chr22:28699929	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Familial cancer of breast Hereditary breast ovarian cancer syndrome Li-Fraumeni syndrome 2 Malignant tumor of breast Carcinoma of pancreas Colonic neoplasm not specified CHEK2-related cancer predisposition Inherited breast cancer and ovarian cancer	Criteria Provided Conflicting Classifications	CA288331	rs_587780192	19 SubmittersRCV000116033 RCV000212440 RCV000228767 RCV001192409 RCV001251038 RCV001355901 RCV001391209 RCV001579302 RCV003320458 RCV004556733 RCV004584194
NM_007194.4(CHEK2):c.58C>T (p.Gln20Ter)	SNV Germline	Chr22:28734664	Conflicting classifications of pathogenicity	not specified Condition: not provided Hereditary cancer-predisposing syndrome Familial cancer of breast Familial ovarian cancer Breast carcinoma Li-Fraumeni syndrome 2 Inherited breast cancer and ovarian cancer	Criteria Provided Conflicting Classifications	CA158093	rs_536907995	21 SubmittersRCV000120552 RCV000255024 RCV000579628 RCV000458969 RCV001356492 RCV001640105 RCV003992188 RCV004584196
NM_007194.4(CHEK2):c.157T>A (p.Ser53Thr)	SNV Germline	Chr22:28734565	Conflicting classifications of pathogenicity	not specified Hereditary cancer-predisposing syndrome Familial cancer of breast Li-Fraumeni syndrome 2 Bone osteosarcoma Malignant tumor of prostate Familial cancer of breast Condition: not provided CHEK2-related cancer predisposition	Criteria Provided Conflicting Classifications	CA158095	rs_371657037	12 SubmittersRCV000120553 RCV000132037 RCV000231176 RCV000765627 RCV000766741 RCV004556735
NM_000546.6(TP53):c.605G>A (p.Arg202His)	SNV Germline	Chr17:7674926	Conflicting classifications of pathogenicity	not specified Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Malignant tumor of breast	Criteria Provided Conflicting Classifications	CA000289	rs_587778719	7 SubmittersRCV000122175 RCV000459232 RCV000567735 RCV001030735 RCV001358628
NM_000546.6(TP53):c.638G>A (p.Arg213Gln)	SNV Germline/somatic	Chr17:7674893	Pathogenic	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_007194.4(CHEK2):c.283C>T (p.Arg95Ter)	SNV Germline	Chr22:28734439	Pathogenic	Hereditary cancer-predisposing syndrome Condition: not provided Familial cancer of breast not specified Malignant tumor of breast Hereditary breast ovarian cancer syndrome Malignant tumor of prostate Familial cancer of breast Li-Fraumeni syndrome 2 Colorectal cancer Bone osteosarcoma CHEK2-related cancer predisposition Gastric cancer	Criteria Provided Multiple Submitters No Conflicts	CA163528	rs_587781269	20 SubmittersRCV000128901 RCV000215973 RCV000232015 RCV001002335 RCV001354537 RCV002225419 RCV002505102 RCV004556738 RCV003162571
NM_000546.6(TP53):c.422G>A (p.Cys141Tyr)	SNV Germline/somatic	Chr17:7675190	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Pancreatic adenocarcinoma Breast neoplasm Neoplasm of brain Multiple myeloma Squamous cell lung carcinoma Malignant neoplasm of body of uterus Lung adenocarcinoma Prostate adenocarcinoma Acute myeloid leukemia Squamous cell carcinoma of the head and neck Papillary renal cell carcinoma type 1 Neoplasm of the large intestine Li-Fraumeni syndrome Neoplasm of ovary Condition: not provided Li-Fraumeni syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA000174	rs_587781288	7 SubmittersRCV000128975 RCV000418811 RCV000427674 RCV000437920 RCV000439333 RCV000427068 RCV000428004 RCV000429076 RCV000444430 RCV000436530 RCV000417795 RCV000423419 RCV000435449 RCV000472876 RCV000785510 RCV001582600 RCV002288619
NM_000546.6(TP53):c.844C>G (p.Arg282Gly)	SNV Germline/somatic	Chr17:7673776	Pathogenic	Hereditary cancer-predisposing syndrome Pancreatic adenocarcinoma Lung adenocarcinoma Carcinoma of esophagus Squamous cell carcinoma of the skin Transitional cell carcinoma of the bladder Papillary renal cell carcinoma type 1 Prostate adenocarcinoma Neoplasm of brain Glioblastoma Breast neoplasm Squamous cell carcinoma of the head and neck Malignant neoplasm of body of uterus Gastric adenocarcinoma Squamous cell lung carcinoma Ovarian serous cystadenocarcinoma Non-Hodgkin lymphoma Hepatocellular carcinoma Malignant melanoma of skin Neoplasm of the large intestine Neoplasm of ovary Li-Fraumeni syndrome Li-Fraumeni syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA000453	rs_28934574	5 SubmittersRCV000129010 RCV000422367 RCV000422134 RCV000422747 RCV000435503 RCV000437895 RCV000440653 RCV000430047 RCV000419993 RCV000425179 RCV000437219 RCV000442540 RCV000430393 RCV000431764 RCV000432433 RCV000442627 RCV000419333 RCV000427647 RCV000440446 RCV000445294 RCV000785299 RCV001380073 RCV002288620
NM_007194.4(CHEK2):c.755G>A (p.Ser252Asn)	SNV Germline	Chr22:28711946	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Familial cancer of breast Malignant tumor of prostate Familial cancer of breast Li-Fraumeni syndrome 2 Bone osteosarcoma Hereditary breast ovarian cancer syndrome not specified	Criteria Provided Conflicting Classifications	CA163957	rs_587781379	11 SubmittersRCV000129204 RCV000214585 RCV000227256 RCV000765620 RCV001030685 RCV001201286
NM_007194.4(CHEK2):c.727T>C (p.Cys243Arg)	SNV Germline	Chr22:28711974	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Familial cancer of breast Condition: not provided Li-Fraumeni syndrome 2 not specified	Criteria Provided Conflicting Classifications	CA294007	rs_141776984	10 SubmittersRCV000129205 RCV000205087 RCV000590667 RCV001292616 RCV001731481
NM_007194.4(CHEK2):c.1451C>T (p.Pro484Leu)	SNV Germline	Chr22:28694042	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome not specified Familial cancer of breast Condition: not provided Breast and/or ovarian cancer Malignant tumor of prostate Familial cancer of breast Li-Fraumeni syndrome 2 Colorectal cancer Bone osteosarcoma CHEK2-related disorder	Criteria Provided Conflicting Classifications	CA294010	rs_564605612	15 SubmittersRCV000129213 RCV000212468 RCV000206213 RCV000590757 RCV001798435 RCV002478384 RCV004528849
NM_000546.6(TP53):c.642T>G (p.His214Gln)	SNV Germline	Chr17:7674889	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Li-Fraumeni syndrome 1 Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA000305	rs_587781386	9 SubmittersRCV000129218 RCV000195927 RCV000410083 RCV001283869 RCV002267869
NM_007194.4(CHEK2):c.1423T>A (p.Phe475Ile)	SNV Germline	Chr22:28694070	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Familial cancer of breast Condition: not provided not specified Malignant tumor of breast CHEK2-related disorder Malignant tumor of prostate Familial cancer of breast Li-Fraumeni syndrome 2 Colorectal cancer Bone osteosarcoma	Criteria Provided Conflicting Classifications	CA294041	rs_370968992	15 SubmittersRCV000129382 RCV000206734 RCV000212464 RCV000781308 RCV001356630 RCV004528850 RCV002483259
NM_000546.6(TP53):c.358A>G (p.Lys120Glu)	SNV Germline/somatic	Chr17:7676011	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Li-Fraumeni syndrome Neoplasm of ovary Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA000130	rs_121912658	5 SubmittersRCV000129457 RCV000213049 RCV000696142 RCV000785522 RCV004019730
NM_007194.4(CHEK2):c.1175C>T (p.Ala392Val)	SNV Germline	Chr22:28695794	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Familial cancer of breast Condition: not provided not specified Malignant tumor of breast Li-Fraumeni syndrome 2 Hereditary breast ovarian cancer syndrome	Criteria Provided Conflicting Classifications	CA164560	rs_373073383	15 SubmittersRCV000129508 RCV000206654 RCV000589481 RCV001175352 RCV001357703 RCV003493452 RCV003483495
NM_000546.6(TP53):c.842A>G (p.Asp281Gly)	SNV Germline/somatic	Chr17:7673778	Pathogenic	Hereditary cancer-predisposing syndrome Neuroblastoma Squamous cell carcinoma of the head and neck Transitional cell carcinoma of the bladder Glioblastoma Squamous cell carcinoma of the skin Breast neoplasm Malignant neoplasm of body of uterus Squamous cell lung carcinoma Papillary renal cell carcinoma type 1 Multiple myeloma Lung adenocarcinoma B-cell chronic lymphocytic leukemia Uterine carcinosarcoma Pancreatic adenocarcinoma Hepatocellular carcinoma Gastric adenocarcinoma Malignant melanoma of skin Ovarian serous cystadenocarcinoma Li-Fraumeni syndrome Li-Fraumeni syndrome 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA000450	rs_587781525	7 SubmittersRCV000129516 RCV000425885 RCV000426980 RCV000428043 RCV000434395 RCV000435472 RCV000436592 RCV000418481 RCV000423760 RCV000431187 RCV000423959 RCV000433596 RCV000441016 RCV000442068 RCV000438583 RCV000442813 RCV000418257 RCV000429146 RCV000436807 RCV000633367 RCV002288626 RCV003237737
NM_000546.6(TP53):c.337T>G (p.Phe113Val)	SNV Germline	Chr17:7676032	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA000124	rs_587781642	4 SubmittersRCV000129770 RCV000633376 RCV002288629
NM_000546.6(TP53):c.1101-2A>G	SNV Germline/somatic	Chr17:7669692	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Condition: not provided Li-Fraumeni syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA000038	rs_587781664	6 SubmittersRCV000129814 RCV000206779 RCV000213070 RCV002288631
NM_000546.6(TP53):c.920-1G>A	SNV Germline/somatic	Chr17:7673609	Pathogenic	Hereditary cancer-predisposing syndrome Condition: not provided Neoplasm of ovary Li-Fraumeni syndrome Li-Fraumeni syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA000499	rs_587781702	7 SubmittersRCV000129871 RCV000421521 RCV000785548 RCV001235868 RCV002288632
NM_007194.4(CHEK2):c.216T>G (p.Tyr72Ter)	SNV Germline	Chr22:28734506	Pathogenic	Hereditary cancer-predisposing syndrome Malignant tumor of prostate Familial cancer of breast Li-Fraumeni syndrome 2 Bone osteosarcoma Familial cancer of breast	Criteria Provided Multiple Submitters No Conflicts	CA165273	rs_587781705	5 SubmittersRCV000129876 RCV000763478 RCV001247758
NM_000546.6(TP53):c.125A>G (p.Asp42Gly)	SNV Germline	Chr17:7676244	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA000052	rs_587781767	3 SubmittersRCV000129995 RCV002288633
NM_000546.6(TP53):c.1120G>A (p.Gly374Ser)	SNV Germline	Chr17:7669671	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Adrenocortical carcinoma, hereditary	Criteria Provided Conflicting Classifications	CA000040	rs_587781858	4 SubmittersRCV000130166 RCV001313040 RCV003474760
NM_000546.6(TP53):c.404G>A (p.Cys135Tyr)	SNV Germline/somatic	Chr17:7675208	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Carcinoma of esophagus Transitional cell carcinoma of the bladder Gastric adenocarcinoma Hepatocellular carcinoma Pancreatic adenocarcinoma Prostate adenocarcinoma Ovarian serous cystadenocarcinoma Breast neoplasm Squamous cell lung carcinoma Lung adenocarcinoma Condition: not provided Adrenal cortex carcinoma Neoplasm of the large intestine Neoplasm of brain Li-Fraumeni syndrome Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA000160	rs_587781991	7 SubmittersRCV000130396 RCV000419337 RCV000421166 RCV000429447 RCV000431855 RCV000419825 RCV000422242 RCV000430048 RCV000437052 RCV000438381 RCV000439440 RCV000581322 RCV000423651 RCV000428748 RCV000444676 RCV001069143 RCV004019738
NM_000546.6(TP53):c.799C>T (p.Arg267Trp)	SNV Germline/somatic	Chr17:7673821	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Condition: not provided Li-Fraumeni syndrome 11 conditions Lip and oral cavity carcinoma Familial cancer of breast Li-Fraumeni syndrome 1 Breast and/or ovarian cancer Adrenocortical carcinoma, hereditary	Criteria Provided Multiple Submitters No Conflicts	CA000423	rs_55832599	17 SubmittersRCV000130398 RCV000413074 RCV000538977 RCV000763416 RCV001255676 RCV002247507 RCV002288637 RCV003149899 RCV003460927
NM_000546.6(TP53):c.859G>A (p.Glu287Lys)	SNV Germline	Chr17:7673761	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA000466	rs_587782006	3 SubmittersRCV000130426 RCV000813960 RCV002288638
NM_007194.4(CHEK2):c.1169A>C (p.Tyr390Ser)	SNV Germline	Chr22:28695800	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Condition: not provided Familial cancer of breast Hereditary breast ovarian cancer syndrome Malignant tumor of prostate Li-Fraumeni syndrome 2 Premature ovarian failure Malignant tumor of breast	Criteria Provided Multiple Submitters No Conflicts	CA166521	rs_200928781	15 SubmittersRCV000130486 RCV000222009 RCV000206869 RCV001175336 RCV001787089 RCV003448269 RCV001270242 RCV001355927
NM_007194.4(CHEK2):c.1534C>G (p.Leu512Val)	SNV Germline	Chr22:28689143	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Familial cancer of breast Condition: not provided Malignant tumor of prostate Familial cancer of breast Li-Fraumeni syndrome 2 Bone osteosarcoma	Criteria Provided Conflicting Classifications	CA166627	rs_17882942	10 SubmittersRCV000130543 RCV000197078 RCV000587712 RCV000764367
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.248C>A (p.Ala83Glu)	SNV Germline	Chr17:7676121	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA000082	rs_201717599	3 SubmittersRCV000130694 RCV001303642 RCV002288640
NM_000546.6(TP53):c.473G>A (p.Arg158His)	SNV Germline	Chr17:7675139	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Condition: not provided Li-Fraumeni syndrome 1 Rhabdomyosarcoma 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.256G>A (p.Ala86Thr)	SNV Germline	Chr17:7676113	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Li-Fraumeni syndrome not specified	Criteria Provided Conflicting Classifications	CA000088	rs_587782148	6 SubmittersRCV000130712 RCV000478688 RCV000633343 RCV002247510
NM_007194.4(CHEK2):c.556A>C (p.Asn186His)	SNV Germline	Chr22:28725013	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Familial cancer of breast Condition: not provided Malignant tumor of prostate Familial cancer of breast Li-Fraumeni syndrome 2 Bone osteosarcoma not specified Endometrial carcinoma Hereditary breast ovarian cancer syndrome CHEK2-related disorder	Criteria Provided Conflicting Classifications	CA294225	rs_146198085	22 SubmittersRCV000130733 RCV000198345 RCV000589669 RCV000515236 RCV000855592 RCV001356295 RCV002225433 RCV004532565
NM_000546.6(TP53):c.434T>C (p.Leu145Pro)	SNV Germline/somatic	Chr17:7675178	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Neoplasm of ovary Li-Fraumeni syndrome Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA000188	rs_587782197	4 SubmittersRCV000130857 RCV000785265 RCV001232651 RCV004019742
NM_000546.6(TP53):c.1072G>A (p.Glu358Lys)	SNV Germline	Chr17:7670637	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1 Li-Fraumeni syndrome	Criteria Provided Conflicting Classifications	CA000027	rs_587782237	3 SubmittersRCV000130938 RCV002288643 RCV001229943
NM_000546.6(TP53):c.770T>G (p.Leu257Arg)	SNV Germline	Chr17:7674193	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome	Criteria Provided Conflicting Classifications	CA000404	rs_28934577	2 SubmittersRCV000130981 RCV001233712
NM_000546.6(TP53):c.916C>T (p.Arg306Ter)	SNV Germline/somatic	Chr17:7673704	Pathogenic	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Head and neck neoplasm Neoplasm of the large intestine Condition: not provided Neoplasm of ovary Lip and oral cavity carcinoma Li-Fraumeni syndrome 1 Gastric cancer Lung adenocarcinoma Hereditary breast ovarian cancer syndrome	Criteria Provided Multiple Submitters No Conflicts	CA000495	rs_121913344	18 SubmittersRCV000130997 RCV000232963 RCV000422102 RCV000428901 RCV000356380 RCV000785333 RCV001255680 RCV001310214 RCV003162584 RCV003322599 RCV002307404
NM_007194.4(CHEK2):c.1053G>T (p.Glu351Asp)	SNV Germline	Chr22:28696943	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Familial cancer of breast Condition: not provided Li-Fraumeni syndrome 2 Malignant tumor of breast CHEK2-related cancer predisposition	Criteria Provided Conflicting Classifications	CA167545	rs_587782268	15 SubmittersRCV000131011 RCV000456353 RCV000481469 RCV001292666 RCV001354674 RCV004556744
NM_000546.6(TP53):c.994-1G>A	SNV Germline	Chr17:7670716	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Condition: not provided Li-Fraumeni syndrome Li-Fraumeni syndrome 1 Adrenocortical carcinoma, hereditary	Criteria Provided Multiple Submitters No Conflicts	CA000528	rs_587782272	7 SubmittersRCV000131124 RCV000786811 RCV001380070 RCV002288645 RCV003992194
NM_000546.6(TP53):c.706T>G (p.Tyr236Asp)	SNV Germline/somatic	Chr17:7674257	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Lung adenocarcinoma Pancreatic adenocarcinoma Squamous cell carcinoma of the skin Breast neoplasm Neoplasm of brain Ovarian serous cystadenocarcinoma Squamous cell carcinoma of the head and neck Prostate adenocarcinoma Squamous cell lung carcinoma Gastric adenocarcinoma Neoplasm of the large intestine Li-Fraumeni syndrome Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA000344	rs_587782289	4 SubmittersRCV000131168 RCV000421075 RCV000418648 RCV000428270 RCV000419715 RCV000429365 RCV000435853 RCV000436923 RCV000438979 RCV000440030 RCV000421570 RCV000430428 RCV001214095 RCV004019744
NM_000546.6(TP53):c.746G>A (p.Arg249Lys)	SNV Germline/somatic	Chr17:7674217	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Medulloblastoma Hepatocellular carcinoma Pancreatic adenocarcinoma Small cell lung carcinoma Squamous cell carcinoma of the head and neck Prostate adenocarcinoma Carcinoma of esophagus Malignant neoplasm of body of uterus Lung adenocarcinoma Squamous cell carcinoma of the skin Uterine carcinosarcoma Gastric adenocarcinoma Ovarian serous cystadenocarcinoma Glioblastoma Squamous cell lung carcinoma Condition: not provided Li-Fraumeni syndrome Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA000391	rs_587782329	6 SubmittersRCV000131246 RCV000420497 RCV000437502 RCV000438874 RCV000439985 RCV000440358 RCV000445113 RCV000427275 RCV000429077 RCV000430131 RCV000421887 RCV000419499 RCV000419850 RCV000421647 RCV000429319 RCV000431473 RCV000724753 RCV001857457 RCV002288647
NM_007194.4(CHEK2):c.931G>A (p.Asp311Asn)	SNV Germline	Chr22:28699915	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Familial cancer of breast not specified Malignant tumor of prostate Familial cancer of breast Colorectal cancer Li-Fraumeni syndrome 2 Bone osteosarcoma	Criteria Provided Conflicting Classifications	CA294339	rs_587782347	14 SubmittersRCV000131287 RCV000212441 RCV000231753 RCV002271417 RCV002483267
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_007194.4(CHEK2):c.319+2T>A	SNV Germline	Chr22:28734401	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Condition: not provided Familial cancer of breast Li-Fraumeni syndrome 2 Bone osteosarcoma Malignant tumor of prostate Familial cancer of breast Breast cancer, susceptibility to RECLASSIFIED - CDH1 POLYMORPHISM Malignant tumor of breast	Criteria Provided Multiple Submitters No Conflicts	CA294375	rs_587782401	16 SubmittersRCV000131434 RCV000212411 RCV000515447 RCV000545158 RCV001258067 RCV003492621
NM_000546.6(TP53):c.1100+13A>G	SNV Germline	Chr17:7670596	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome	Criteria Provided Conflicting Classifications	CA000037	rs_77881630	2 SubmittersRCV000131467 RCV002514746
NM_007194.4(CHEK2):c.707T>C (p.Leu236Pro)	SNV Germline	Chr22:28711994	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Familial cancer of breast Hereditary breast ovarian cancer syndrome Familial cancer of breast Li-Fraumeni syndrome 2 Condition: not provided Predisposition to cancer Li-Fraumeni syndrome 2	Criteria Provided Conflicting Classifications	CA294400	rs_587782471	15 SubmittersRCV000131577 RCV000212433 RCV000199653 RCV000791342 RCV000586622 RCV003153427 RCV003389239
NM_007194.4(CHEK2):c.1510G>C (p.Glu504Gln)	SNV Germline	Chr22:28689167	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Familial cancer of breast Condition: not provided Malignant tumor of prostate Familial cancer of breast Li-Fraumeni syndrome 2 Bone osteosarcoma not specified	Criteria Provided Conflicting Classifications	CA168459	rs_587782489	10 SubmittersRCV000131614 RCV000198676 RCV000214263 RCV000764369 RCV001251282
NM_007194.4(CHEK2):c.1216C>T (p.Arg406Cys)	SNV Germline	Chr22:28695753	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Familial cancer of breast Malignant tumor of prostate Familial cancer of breast Li-Fraumeni syndrome 2 Bone osteosarcoma not specified Condition: not provided Malignant tumor of breast Breast and/or ovarian cancer CHEK2-related disorder	Criteria Provided Conflicting Classifications	CA294433	rs_587782527	16 SubmittersRCV000131715 RCV000228975 RCV000515410 RCV000855593 RCV000587346 RCV001356488 RCV003492628 RCV004532574
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.1079G>T (p.Gly360Val)	SNV Germline	Chr17:7670630	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA000030	rs_35993958	9 SubmittersRCV000131746 RCV000195550 RCV001284721 RCV002267882
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.19G>C (p.Asp7His)	SNV Germline	Chr17:7676576	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Condition: not provided Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA000065	rs_587782646	5 SubmittersRCV000132048 RCV001364215 RCV001559782 RCV002288651
NM_000546.6(TP53):c.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.1010G>T (p.Arg337Leu)	SNV Germline/somatic	Chr17:7670699	Likely pathogenic	Hereditary cancer-predisposing syndrome Neoplasm of ovary Li-Fraumeni syndrome 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA000015	rs_121912664	5 SubmittersRCV000132259 RCV000785297 RCV002288655 RCV003237742
NM_000546.6(TP53):c.1015G>A (p.Glu339Lys)	SNV Germline	Chr17:7670694	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome not specified Li-Fraumeni syndrome Li-Fraumeni syndrome 1 Hereditary breast ovarian cancer syndrome TP53-related disorder	Criteria Provided Conflicting Classifications	CA000017	rs_17882252	11 SubmittersRCV000132285 RCV000254694 RCV001081368 RCV001127282 RCV001030734 RCV003891671
NM_000546.6(TP53):c.171C>A (p.Asp57Glu)	SNV Germline	Chr17:7676198	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1 Li-Fraumeni syndrome	Criteria Provided Conflicting Classifications	CA000060	rs_587782776	6 SubmittersRCV000132310 RCV000411346 RCV002514753
NM_000546.6(TP53):c.787A>G (p.Asn263Asp)	SNV Germline	Chr17:7673833	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Li-Fraumeni syndrome Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA000419	rs_72661119	9 SubmittersRCV000132389 RCV000679373 RCV000474969 RCV000663318
NM_007194.4(CHEK2):c.592+3A>T	SNV Germline	Chr22:28724974	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Familial cancer of breast Condition: not provided Familial cancer of breast Li-Fraumeni syndrome 2 Breast carcinoma Hereditary breast ovarian cancer syndrome Malignant tumor of prostate CHEK2-related disorder Malignant tumor of breast	Criteria Provided Conflicting Classifications	CA294532	rs_587782849	24 SubmittersRCV000132447 RCV000228472 RCV000656830 RCV001171462 RCV001554293 RCV002468934 RCV003334383 RCV004532583 RCV004551270
NM_000546.6(TP53):c.665C>T (p.Pro222Leu)	SNV Germline	Chr17:7674866	Conflicting classifications of pathogenicity	Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Condition: not provided Li-Fraumeni syndrome 1 Squamous cell carcinoma of the head and neck not specified Breast and/or ovarian cancer TP53-related disorder	Criteria Provided Conflicting Classifications	CA000317	rs_146340390	15 SubmittersRCV000148907 RCV000161032 RCV000213056 RCV000411498 RCV000989715 RCV001002287 RCV001798464 RCV003905279
NM_000546.6(TP53):c.839G>T (p.Arg280Ile)	SNV Germline/somatic	Chr17:7673781	Conflicting classifications of pathogenicity	Malignant tumor of prostate Malignant melanoma of skin Small cell lung carcinoma Nasopharyngeal neoplasm Lung adenocarcinoma Ovarian serous cystadenocarcinoma Squamous cell carcinoma of the skin Acute myeloid leukemia Breast neoplasm Hepatocellular carcinoma Transitional cell carcinoma of the bladder Squamous cell carcinoma of the head and neck Neoplasm of uterine cervix Gastric adenocarcinoma Uterine carcinosarcoma Carcinoma of esophagus Neoplasm of brain Squamous cell lung carcinoma Li-Fraumeni syndrome Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA000447	rs_121912660	4 SubmittersRCV000149052 RCV000417523 RCV000426315 RCV000435871 RCV000437418 RCV000419067 RCV000438665 RCV000419744 RCV000438915 RCV000425612 RCV000421544 RCV000442289 RCV000427666 RCV000429336 RCV000445006 RCV000434436 RCV000428657 RCV000434213 RCV000633330 RCV004019784
NM_000546.6(TP53):c.797G>A (p.Gly266Glu)	SNV Germline/somatic	Chr17:7673823	Pathogenic/Likely pathogenic	Malignant tumor of prostate Condition: not provided Squamous cell carcinoma of the skin Malignant melanoma of skin Breast neoplasm Small cell lung carcinoma Hepatocellular carcinoma Malignant neoplasm of body of uterus Neoplasm of the large intestine Squamous cell lung carcinoma Neoplasm of brain Uterine carcinosarcoma Carcinoma of esophagus B-cell chronic lymphocytic leukemia Pancreatic adenocarcinoma Lung adenocarcinoma Ovarian serous cystadenocarcinoma Squamous cell carcinoma of the head and neck Glioblastoma Transitional cell carcinoma of the bladder Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Neoplasm of ovary Li-Fraumeni syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA000421	rs_193920774	10 SubmittersRCV000149050 RCV000255749 RCV000422957 RCV000423995 RCV000433054 RCV000434273 RCV000441726 RCV000444033 RCV000418979 RCV000444063 RCV000424505 RCV000429269 RCV000429720 RCV000436020 RCV000440516 RCV000445061 RCV000418383 RCV000421625 RCV000430374 RCV000431935 RCV000492556 RCV000709403 RCV000785456 RCV002288661
NM_000546.6(TP53):c.714T>G (p.Cys238Trp)	SNV Germline/somatic	Chr17:7674249	Pathogenic/Likely pathogenic	Malignant tumor of prostate Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA000353	rs_193920789	3 SubmittersRCV000149049 RCV000203823 RCV002362784
NM_000546.6(TP53):c.481G>A (p.Ala161Thr)	SNV Germline/somatic	Chr17:7675131	Pathogenic/Likely pathogenic	Malignant tumor of prostate Condition: not provided Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 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.722C>G (p.Ser241Cys)	SNV Germline/somatic	Chr17:7674241	Pathogenic/Likely pathogenic	Li-Fraumeni syndrome Condition: not provided Gallbladder carcinoma Papillary renal cell carcinoma type 1 Neoplasm of the large intestine Non-Hodgkin lymphoma Breast neoplasm Squamous cell carcinoma of the head and neck Ovarian serous cystadenocarcinoma Brainstem glioma Malignant neoplasm of body of uterus Carcinoma of esophagus Glioblastoma Neoplasm of brain Lung adenocarcinoma Papillary renal cell carcinoma, sporadic Transitional cell carcinoma of the bladder Squamous cell carcinoma of the skin Uterine carcinosarcoma Pancreatic adenocarcinoma Malignant melanoma of skin Hereditary cancer-predisposing syndrome Neoplasm of ovary Li-Fraumeni syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA000357	rs_28934573	8 SubmittersRCV000154419 RCV000236210 RCV000422573 RCV000426195 RCV000429339 RCV000438488 RCV000439590 RCV000442616 RCV000419417 RCV000430604 RCV000431373 RCV000437089 RCV000417965 RCV000420364 RCV000425780 RCV000426900 RCV000428236 RCV000432564 RCV000438178 RCV000439098 RCV000442642 RCV000492778 RCV000785321 RCV002288664
NM_000546.6(TP53):c.1010G>C (p.Arg337Pro)	SNV Germline	Chr17:7670699	Likely pathogenic	Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA000014	rs_121912664	5 SubmittersRCV000154527 RCV001187412 RCV002288666
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.993+13G>C	SNV Germline	Chr17:7673522	Conflicting classifications of pathogenicity	not specified Li-Fraumeni syndrome 1 Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Breast and/or ovarian cancer	Criteria Provided Conflicting Classifications	CA000522	rs_369599972	5 SubmittersRCV000161051 RCV000409061 RCV000773086 RCV002053941 RCV003149985
NM_000546.6(TP53):c.842A>T (p.Asp281Val)	SNV Germline/somatic	Chr17:7673778	Pathogenic/Likely pathogenic	Condition: not provided Hereditary cancer-predisposing syndrome Uterine carcinosarcoma Squamous cell carcinoma of the skin Pancreatic adenocarcinoma Papillary renal cell carcinoma type 1 Multiple myeloma Squamous cell carcinoma of the head and neck Breast neoplasm Malignant neoplasm of body of uterus Squamous cell lung carcinoma B-cell chronic lymphocytic leukemia Ovarian serous cystadenocarcinoma Transitional cell carcinoma of the bladder Glioblastoma Lung adenocarcinoma Malignant melanoma of skin Gastric adenocarcinoma Hepatocellular carcinoma Neuroblastoma Li-Fraumeni syndrome Li-Fraumeni syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA000452	rs_587781525	5 SubmittersRCV000161072 RCV000215048 RCV000418100 RCV000428503 RCV000426125 RCV000434194 RCV000432892 RCV000435682 RCV000435739 RCV000440916 RCV000442104 RCV000417569 RCV000423186 RCV000425401 RCV000423894 RCV000431328 RCV000433464 RCV000438736 RCV000443096 RCV000441595 RCV000799325 RCV002288706
NM_000546.6(TP53):c.782+12C>T	SNV Germline	Chr17:7674169	Conflicting classifications of pathogenicity	not specified Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1 Li-Fraumeni syndrome	Criteria Provided Conflicting Classifications	CA000411	rs_17881780	6 SubmittersRCV000161049 RCV000580153 RCV000663058 RCV002053940
NM_000546.6(TP53):c.752T>G (p.Ile251Ser)	SNV Germline	Chr17:7674211	Conflicting classifications of pathogenicity	Condition: not provided Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA000396	rs_730882027	4 SubmittersRCV000161070 RCV003621508 RCV004019947 RCV004019946
NM_000546.6(TP53):c.751A>C (p.Ile251Leu)	SNV Germline/somatic	Chr17:7674212	Pathogenic/Likely pathogenic	Condition: not provided Hereditary cancer-predisposing syndrome Neoplasm of ovary Gastric cancer Li-Fraumeni syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA000394	rs_730882007	6 SubmittersRCV000161037 RCV000492548 RCV000785277 RCV002280104 RCV002288694
NM_000546.6(TP53):c.728T>C (p.Met243Thr)	SNV Germline	Chr17:7674235	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Adrenocortical carcinoma, hereditary	Criteria Provided Conflicting Classifications	CA000365	rs_730882006	4 SubmittersRCV000161035 RCV000222280 RCV000686581 RCV003462110
NM_000546.6(TP53):c.713G>A (p.Cys238Tyr)	SNV Germline/somatic	Chr17:7674250	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Condition: not provided 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.709A>G (p.Met237Val)	SNV Germline/somatic	Chr17:7674254	Conflicting classifications of pathogenicity	not specified Li-Fraumeni syndrome Brainstem glioma Malignant neoplasm of body of uterus Gastric adenocarcinoma Ovarian serous cystadenocarcinoma Neoplasm of the large intestine Squamous cell carcinoma of the head and neck Breast neoplasm Carcinoma of esophagus Lung adenocarcinoma Pancreatic adenocarcinoma Squamous cell lung carcinoma Neoplasm of brain Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA000348	rs_730882004	6 SubmittersRCV000161033 RCV000200500 RCV000421083 RCV000421733 RCV000430423 RCV000431774 RCV000439317 RCV000439996 RCV000419726 RCV000422107 RCV000429307 RCV000434187 RCV000443583 RCV000443569 RCV001526334 RCV002288692
NM_000546.6(TP53):c.707A>C (p.Tyr236Ser)	SNV Germline	Chr17:7674256	Conflicting classifications of pathogenicity	Condition: not provided Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA000346	rs_730882026	3 SubmittersRCV000161069 RCV001373091 RCV002288705 RCV002288704
NM_000546.6(TP53):c.646G>A (p.Val216Met)	SNV Germline/somatic	Chr17:7674885	Pathogenic/Likely pathogenic	Condition: not provided Li-Fraumeni syndrome 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.524G>T (p.Arg175Leu)	SNV Germline	Chr17:7675088	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Li-Fraumeni syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA000252	rs_28934578	3 SubmittersRCV000161065 RCV000810785 RCV002288703
NM_000546.6(TP53):c.493C>T (p.Gln165Ter)	SNV Germline/somatic	Chr17:7675119	Pathogenic	Condition: not provided Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Neoplasm of ovary Squamous cell carcinoma of the head and neck Lip and oral cavity carcinoma Familial cancer of breast Li-Fraumeni syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA000243	rs_730882001	10 SubmittersRCV000161028 RCV000219202 RCV000633373 RCV000785484 RCV001270262 RCV001255634 RCV002272147 RCV002288688
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.266C>T (p.Pro89Leu)	SNV Germline	Chr17:7676103	Conflicting classifications of pathogenicity	Condition: not provided Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA000089	rs_730881994	6 SubmittersRCV000161019 RCV000560488 RCV001016264 RCV002288683
NM_000546.6(TP53):c.97-9C>T	SNV Germline	Chr17:7676281	Conflicting classifications of pathogenicity	not specified Condition: not provided Li-Fraumeni syndrome 1 Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome	Criteria Provided Conflicting Classifications	CA000518	rs_202217267	12 SubmittersRCV000161046 RCV000195920 RCV000410371 RCV000580612 RCV001079867
NM_007194.4(CHEK2):c.793-1G>A	SNV Germline	Chr22:28710060	Pathogenic/Likely pathogenic	Condition: not provided Hereditary cancer-predisposing syndrome Familial cancer of breast Familial cancer of breast Li-Fraumeni syndrome 2 Bone osteosarcoma Malignant tumor of prostate Colorectal cancer	Criteria Provided Multiple Submitters No Conflicts	CA299073	rs_730881687	11 SubmittersRCV000160429 RCV000214915 RCV000464029 RCV002498796
NM_007194.4(CHEK2):c.409C>T (p.Arg137Ter)	SNV Germline	Chr22:28725278	Pathogenic	Hereditary cancer-predisposing syndrome Familial cancer of breast Condition: not provided Familial cancer of breast Li-Fraumeni syndrome 2 Malignant tumor of prostate Bone osteosarcoma Congenital heart defects, multiple types, 3 Hereditary breast ovarian cancer syndrome Gastric cancer CHEK2-related cancer predisposition	Criteria Provided Multiple Submitters No Conflicts	CA299110	rs_730881701	17 SubmittersRCV000160452 RCV000229303 RCV000254656 RCV000763477 RCV001007871 RCV001526967 RCV003162676 RCV004556752
NM_000546.6(TP53):c.649G>A (p.Val217Met)	SNV Germline	Chr17:7674882	Conflicting classifications of pathogenicity	Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA000309	rs_35163653	2 SubmittersRCV000161936 RCV002354406
NM_000546.6(TP53):c.1135C>T (p.Arg379Cys)	SNV Germline	Chr17:7669656	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA000043	rs_749061599	5 SubmittersRCV000166233 RCV000559034 RCV002288759
NM_000546.6(TP53):c.1078G>A (p.Gly360Arg)	SNV Germline	Chr17:7670631	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Condition: not provided TP53-related disorder not specified	Criteria Provided Conflicting Classifications	CA000028	rs_786203298	7 SubmittersRCV000166545 RCV001241003 RCV001567714 RCV003416041 RCV003987388
NM_000546.6(TP53):c.1000G>A (p.Gly334Arg)	SNV Germline	Chr17:7670709	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome	Criteria Provided Conflicting Classifications	CA000006	rs_730882028	2 SubmittersRCV000165615 RCV002516487
NM_000546.6(TP53):c.920-5C>T	SNV Germline	Chr17:7673613	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Li-Fraumeni syndrome not specified	Criteria Provided Conflicting Classifications	CA000502	rs_34361146	7 SubmittersRCV000164926 RCV000587880 RCV001087552 RCV001283870
NM_000546.6(TP53):c.856G>A (p.Glu286Lys)	SNV Germline/somatic	Chr17:7673764	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Condition: not provided Squamous cell carcinoma of the head and neck Acute myeloid leukemia Neoplasm of the large intestine Transitional cell carcinoma of the bladder Gastric adenocarcinoma Breast neoplasm Pancreatic adenocarcinoma Carcinoma of esophagus Hepatocellular carcinoma Malignant melanoma of skin Neoplasm of brain Vulvar adenocarcinoma of mammary gland type Squamous cell carcinoma of the skin Small cell lung carcinoma Ovarian serous cystadenocarcinoma Lung adenocarcinoma Li-Fraumeni syndrome Li-Fraumeni syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA000464	rs_786201059	7 SubmittersRCV000162466 RCV000255724 RCV000420427 RCV000422231 RCV000424388 RCV000431629 RCV000426778 RCV000437639 RCV000419251 RCV000421987 RCV000427820 RCV000431848 RCV000432936 RCV000506006 RCV000437453 RCV000439250 RCV000443333 RCV000443492 RCV000466372 RCV002288710
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.827C>G (p.Ala276Gly)	SNV Germline	Chr17:7673793	Pathogenic	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome	Criteria Provided Multiple Submitters No Conflicts	CA000436	rs_786202082	2 SubmittersRCV000164718 RCV003765021
NM_000546.6(TP53):c.814G>A (p.Val272Met)	SNV Germline/somatic	Chr17:7673806	Pathogenic	Hereditary cancer-predisposing syndrome Papillary renal cell carcinoma type 1 Transitional cell carcinoma of the bladder Squamous cell carcinoma of the skin Squamous cell carcinoma of the head and neck Lung adenocarcinoma Medulloblastoma Malignant neoplasm of body of uterus Neoplasm of the large intestine Breast neoplasm Li-Fraumeni syndrome Pancreatic adenocarcinoma Ovarian serous cystadenocarcinoma Gastric adenocarcinoma Multiple myeloma Neoplasm of ovary Li-Fraumeni syndrome 1 Condition: not provided	Reviewed By Expert Panel	CA000427	rs_121912657	8 SubmittersRCV000165304 RCV000418746 RCV000425268 RCV000426406 RCV000432177 RCV000436402 RCV000436602 RCV000434621 RCV000443071 RCV000443052 RCV000457645 RCV000424351 RCV000424542 RCV000434295 RCV000441086 RCV000785341 RCV001527085 RCV002243833
NM_000546.6(TP53):c.740A>T (p.Asn247Ile)	SNV Germline/somatic	Chr17:7674223	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Neoplasm of ovary Li-Fraumeni syndrome	Criteria Provided Conflicting Classifications	CA000378	rs_786201762	3 SubmittersRCV000164218 RCV000785503 RCV001338713
NM_000546.6(TP53):c.736A>C (p.Met246Leu)	SNV Germline	Chr17:7674227	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome	Criteria Provided Conflicting Classifications	CA000373	rs_483352695	2 SubmittersRCV000166380 RCV002516500
NM_000546.6(TP53):c.578A>T (p.His193Leu)	SNV Germline/somatic	Chr17:7674953	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Prostate adenocarcinoma Transitional cell carcinoma of the bladder Breast neoplasm Squamous cell carcinoma of the head and neck Uterine carcinosarcoma B-cell chronic lymphocytic leukemia Neoplasm of brain Hepatocellular carcinoma Brainstem glioma Pancreatic adenocarcinoma Carcinoma of esophagus Papillary renal cell carcinoma, sporadic Small cell lung carcinoma Ovarian serous cystadenocarcinoma Lung adenocarcinoma Neoplasm of the large intestine Malignant neoplasm of body of uterus Acute myeloid leukemia Squamous cell lung carcinoma Gastric adenocarcinoma Li-Fraumeni syndrome Neoplasm of ovary Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA000276	rs_786201838	5 SubmittersRCV000165315 RCV000422830 RCV000427615 RCV000432479 RCV000420523 RCV000437609 RCV000421777 RCV000441921 RCV000443734 RCV000428359 RCV000437660 RCV000419701 RCV000438323 RCV000421145 RCV000438373 RCV000439007 RCV000431198 RCV000426960 RCV000433537 RCV000430839 RCV000444673 RCV000697802 RCV000785542 RCV004019975
NM_000546.6(TP53):c.578A>G (p.His193Arg)	SNV Germline/somatic	Chr17:7674953	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Condition: not provided 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.487T>G (p.Tyr163Asp)	SNV Germline/somatic	Chr17:7675125	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Small cell lung carcinoma Neoplasm of the large intestine Carcinoma of esophagus Breast neoplasm Pancreatic adenocarcinoma Ovarian serous cystadenocarcinoma Uterine carcinosarcoma Neoplasm of brain Hepatocellular carcinoma Brainstem glioma Lung adenocarcinoma Malignant melanoma of skin Squamous cell carcinoma of the head and neck Squamous cell lung carcinoma Li-Fraumeni syndrome	Criteria Provided Conflicting Classifications	CA000239	rs_786203436	3 SubmittersRCV000166739 RCV000417885 RCV000430982 RCV000434903 RCV000426124 RCV000441262 RCV000444147 RCV000420162 RCV000432709 RCV000420721 RCV000435516 RCV000424608 RCV000425235 RCV000433509 RCV000443587 RCV001850353
NM_000546.6(TP53):c.464C>G (p.Thr155Ser)	SNV Germline	Chr17:7675148	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Li-Fraumeni syndrome not specified	Criteria Provided Conflicting Classifications	CA000210	rs_786202752	6 SubmittersRCV000165724 RCV000986051 RCV000804037 RCV001192618
NM_000546.6(TP53):c.431A>C (p.Gln144Pro)	SNV Germline/somatic	Chr17:7675181	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Hepatocellular carcinoma Squamous cell carcinoma of the head and neck Transitional cell carcinoma of the bladder Gastric adenocarcinoma Lung adenocarcinoma Malignant neoplasm of body of uterus Ovarian serous cystadenocarcinoma Breast neoplasm Neoplasm of ovary Li-Fraumeni syndrome Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA000182	rs_786203071	5 SubmittersRCV000166212 RCV000423271 RCV000439592 RCV000422986 RCV000419105 RCV000433977 RCV000428907 RCV000440211 RCV000439853 RCV000785331 RCV001850338 RCV002288758
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.376-2A>G	SNV Germline/somatic	Chr17:7675238	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Condition: not provided Li-Fraumeni syndrome Neoplasm of ovary Gallbladder cancer Li-Fraumeni syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA000146	rs_786202799	8 SubmittersRCV000165794 RCV000480344 RCV000554039 RCV000785343 RCV001374443 RCV002288750
NM_000546.6(TP53):c.374C>T (p.Thr125Met)	SNV Germline/somatic	Chr17:7675995	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided 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.305C>T (p.Thr102Ile)	SNV Germline	Chr17:7676064	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA000098	rs_786202717	5 SubmittersRCV000165667 RCV000819967 RCV002288749
NM_000546.6(TP53):c.100C>G (p.Pro34Ala)	SNV Germline	Chr17:7676269	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Condition: not provided Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA000012	rs_786201968	6 SubmittersRCV000165887 RCV000205889 RCV000483753 RCV002288753
NM_000546.6(TP53):c.100C>A (p.Pro34Thr)	SNV Germline	Chr17:7676269	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Condition: not provided Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA000011	rs_786201968	6 SubmittersRCV000164526 RCV000471959 RCV001582646 RCV002288737
NM_000546.6(TP53):c.83A>T (p.Glu28Val)	SNV Germline	Chr17:7676395	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Li-Fraumeni syndrome 1 Adrenocortical carcinoma, hereditary	Criteria Provided Conflicting Classifications	CA000449	rs_786202289	4 SubmittersRCV000165025 RCV001850309 RCV002288739 RCV004567258
NM_000546.6(TP53):c.66A>G (p.Leu22=)	SNV Germline	Chr17:7676529	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Condition: not provided Squamous cell carcinoma of the head and neck not specified	Criteria Provided Conflicting Classifications	CA000323	rs_748527030	7 SubmittersRCV000163369 RCV000196762 RCV000483133 RCV000989728 RCV001174848
NM_000546.6(TP53):c.63C>T (p.Asp21=)	SNV Germline/somatic	Chr17:7676532	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Familial cancer of breast Breast and/or ovarian cancer not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA000304	rs_1800369	12 SubmittersRCV000163241 RCV000196365 RCV001270281 RCV003492674 RCV000430891 RCV000590622
NM_000546.6(TP53):c.589G>A (p.Val197Met)	SNV Germline	Chr17:7674942	Conflicting classifications of pathogenicity	Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA000285	rs_786204041	5 SubmittersRCV000167874 RCV001024656 RCV002288770
NM_000546.6(TP53):c.560-9T>A	SNV Germline	Chr17:7674980	Conflicting classifications of pathogenicity	Condition: not provided Li-Fraumeni syndrome Li-Fraumeni syndrome 1 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA000269	rs_794727781	5 SubmittersRCV000179330 RCV001046951 RCV002288782 RCV002288783
NM_000546.6(TP53):c.1025G>C (p.Arg342Pro)	SNV Germline/somatic	Chr17:7670684	Pathogenic/Likely pathogenic	Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Neoplasm of ovary Condition: not provided Li-Fraumeni syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA337802	rs_375338359	7 SubmittersRCV000198319 RCV000213216 RCV000785264 RCV001538204 RCV002288808
NM_000546.6(TP53):c.973G>T (p.Gly325Ter)	SNV Germline	Chr17:7673555	Pathogenic	Li-Fraumeni syndrome Condition: not provided Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA335679	rs_863224500	3 SubmittersRCV000195434 RCV002286715 RCV002372184
NM_000546.6(TP53):c.964C>T (p.Pro322Ser)	SNV Germline	Chr17:7673564	Conflicting classifications of pathogenicity	Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA336073	rs_863224687	3 SubmittersRCV000195973 RCV000573146 RCV002288818
NM_000546.6(TP53):c.919+5G>C	SNV Germline	Chr17:7673696	Conflicting classifications of pathogenicity	Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA338258	rs_766127339	2 SubmittersRCV000198875 RCV000220008
NM_000546.6(TP53):c.824G>A (p.Cys275Tyr)	SNV Germline/somatic	Chr17:7673796	Pathogenic/Likely pathogenic	Li-Fraumeni syndrome Condition: not provided 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.706T>C (p.Tyr236His)	SNV Germline	Chr17:7674257	Pathogenic/Likely pathogenic	Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA338059	rs_587782289	3 SubmittersRCV000198628 RCV000492107 RCV004020463
NM_000546.6(TP53):c.672+1G>A	SNV Germline	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.388C>T (p.Leu130Phe)	SNV Germline	Chr17:7675224	Conflicting classifications of pathogenicity	Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome not specified Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA339065	rs_863224683	6 SubmittersRCV000200055 RCV000571787 RCV002271460 RCV002288816
NM_000546.6(TP53):c.374C>A (p.Thr125Lys)	SNV Germline/somatic	Chr17:7675995	Pathogenic/Likely pathogenic	Li-Fraumeni syndrome Adrenal cortex carcinoma Carcinoma of esophagus Neoplasm of brain Breast neoplasm Transitional cell carcinoma of the bladder Gastric adenocarcinoma Squamous cell lung carcinoma Acute myeloid leukemia Malignant melanoma of skin Neoplasm of the large intestine Small cell lung carcinoma Pancreatic adenocarcinoma Squamous cell carcinoma of the skin Squamous cell carcinoma of the head and neck Ovarian serous cystadenocarcinoma Hepatocellular carcinoma Brainstem glioma Lung adenocarcinoma Glioblastoma Papillary renal cell carcinoma type 1 Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA337257	rs_786201057	3 SubmittersRCV000197507 RCV000421753 RCV000423507 RCV000438784 RCV000425663 RCV000427801 RCV000430716 RCV000433115 RCV000422366 RCV000436943 RCV000426240 RCV000430953 RCV000442723 RCV000443241 RCV000433745 RCV000443320 RCV000441651 RCV000420405 RCV000420607 RCV000431571 RCV000437594 RCV003165469
NM_007194.4(CHEK2):c.593-1G>T	SNV Germline	Chr22:28719486	Pathogenic/Likely pathogenic	Familial cancer of breast Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 2 Colorectal cancer Malignant tumor of prostate Familial cancer of breast Bone osteosarcoma	Criteria Provided Multiple Submitters No Conflicts	CA336037	rs_786203229	9 SubmittersRCV000195929 RCV000566129 RCV002485316
NM_000546.6(TP53):c.700T>G (p.Tyr234Asp)	SNV Germline/somatic	Chr17:7674263	Pathogenic/Likely pathogenic	Li-Fraumeni syndrome Gastric adenocarcinoma Neoplasm of the large intestine Hepatocellular carcinoma Squamous cell lung carcinoma Small cell lung carcinoma Glioblastoma Ovarian serous cystadenocarcinoma Prostate adenocarcinoma Pancreatic adenocarcinoma Squamous cell carcinoma of the head and neck Carcinoma of esophagus Adrenal cortex carcinoma Breast neoplasm Transitional cell carcinoma of the bladder Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA348450	rs_864622237	4 SubmittersRCV000204217 RCV000424345 RCV000424462 RCV000430896 RCV000433956 RCV000432845 RCV000433328 RCV000445176 RCV000418073 RCV000445265 RCV000423238 RCV000425587 RCV000435222 RCV000440475 RCV000441597 RCV000492197 RCV004020511
NM_000546.6(TP53):c.380C>G (p.Ser127Cys)	SNV Germline	Chr17:7675232	Pathogenic	Li-Fraumeni syndrome	Criteria Provided Single Submitter	CA349567	rs_730881999	1 SubmittersRCV000205404
NM_000546.6(TP53):c.202G>T (p.Glu68Ter)	SNV Germline	Chr17:7676167	Pathogenic	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1 Li-Fraumeni syndrome	Criteria Provided Multiple Submitters No Conflicts	CA353535	rs_869312782	3 SubmittersRCV000210192 RCV002288839 RCV001853361
NM_000546.6(TP53):c.517G>A (p.Val173Met)	SNV Germline/somatic	Chr17:7675095	Pathogenic	Hereditary cancer-predisposing syndrome Condition: not provided Malignant neoplasm of body of uterus Hepatocellular carcinoma Squamous cell carcinoma of the head and neck Lung adenocarcinoma Neoplasm of brain Gastric adenocarcinoma Breast neoplasm Pancreatic adenocarcinoma Li-Fraumeni syndrome Carcinoma of esophagus Brainstem glioma Small cell lung carcinoma Ovarian serous cystadenocarcinoma Neoplasm of the large intestine Adrenal cortex carcinoma Malignant melanoma of skin Neoplasm of ovary Lip and oral cavity carcinoma	Reviewed By Expert Panel	CA10577579	rs_876660754	9 SubmittersRCV000214341 RCV000223396 RCV000423333 RCV000418817 RCV000424469 RCV000429913 RCV000435365 RCV000441217 RCV000418173 RCV000418768 RCV000477355 RCV000429546 RCV000435180 RCV000440133 RCV000423542 RCV000433605 RCV000434638 RCV000439338 RCV000785308 RCV001255635
NM_000546.6(TP53):c.1115A>G (p.Lys372Arg)	SNV Germline	Chr17:7669676	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1 TP53-related disorder	Criteria Provided Conflicting Classifications	CA10580901	rs_876658876	4 SubmittersRCV000217059 RCV002288860 RCV003401139
NM_000546.6(TP53):c.1101-1G>A	SNV Germline	Chr17:7669691	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Li-Fraumeni syndrome 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA10580902	rs_876658982	7 SubmittersRCV000222547 RCV000466199 RCV001252683 RCV001535521
NM_000546.6(TP53):c.1073A>T (p.Glu358Val)	SNV Germline	Chr17:7670636	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome not specified Li-Fraumeni syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA000790	rs_773553186	7 SubmittersRCV000219841 RCV000249541 RCV000463320 RCV001557066
NM_000546.6(TP53):c.994-1G>C	SNV Germline	Chr17:7670716	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Condition: not provided Li-Fraumeni syndrome Li-Fraumeni syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA10580906	rs_587782272	5 SubmittersRCV000221716 RCV000786812 RCV000804263 RCV002288878
NM_000546.6(TP53):c.976G>T (p.Glu326Ter)	SNV Germline/somatic	Chr17:7673552	Pathogenic	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Neoplasm of ovary Li-Fraumeni syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA10580908	rs_876659384	5 SubmittersRCV000218971 RCV000633385 RCV000785490 RCV002288871
NM_000546.6(TP53):c.930C>A (p.Asn310Lys)	SNV Germline	Chr17:7673598	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA10580910	rs_876660829	4 SubmittersRCV000221944 RCV000797410 RCV002288897
NM_000546.6(TP53):c.919+3A>G	SNV Germline	Chr17:7673698	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome	Criteria Provided Conflicting Classifications	CA10580911	rs_876659784	3 SubmittersRCV000216225 RCV001853589
NM_000546.6(TP53):c.908G>A (p.Ser303Asn)	SNV Germline	Chr17:7673712	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA10580912	rs_876658714	3 SubmittersRCV000218916 RCV000700080 RCV002288859
NM_000546.6(TP53):c.877G>A (p.Gly293Arg)	SNV Germline	Chr17:7673743	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA001422	rs_587780076	5 SubmittersRCV000219408 RCV001052713 RCV002288849
NM_000546.6(TP53):c.833C>T (p.Pro278Leu)	SNV Germline/somatic	Chr17:7673787	Pathogenic	Hereditary cancer-predisposing syndrome Neoplasm of brain Squamous cell carcinoma of the skin Squamous cell lung carcinoma Pancreatic adenocarcinoma Lung adenocarcinoma Squamous cell carcinoma of the head and neck Multiple myeloma Malignant neoplasm of body of uterus Malignant melanoma of skin Neoplasm of the large intestine Breast neoplasm Carcinoma of esophagus Ovarian serous cystadenocarcinoma Neoplasm of ovary Gallbladder cancer Li-Fraumeni syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA10580915	rs_876659802	6 SubmittersRCV000214784 RCV000421915 RCV000424153 RCV000429345 RCV000430442 RCV000433311 RCV000434963 RCV000443824 RCV000419043 RCV000440687 RCV000417969 RCV000423023 RCV000428205 RCV000439555 RCV000785311 RCV001374441 RCV001042706 RCV001541668
NM_000546.6(TP53):c.827C>A (p.Ala276Asp)	SNV Germline	Chr17:7673793	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Li-Fraumeni syndrome 1 Li-Fraumeni syndrome	Criteria Provided Conflicting Classifications	CA10580916	rs_786202082	5 SubmittersRCV000223364 RCV000236401 RCV002288879 RCV002515676
NM_000546.6(TP53):c.818G>C (p.Arg273Pro)	SNV Germline/somatic	Chr17:7673802	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Multiple myeloma Adrenal cortex carcinoma Transitional cell carcinoma of the bladder Pancreatic adenocarcinoma Malignant melanoma of skin Neoplasm of brain Malignant neoplasm of body of uterus Squamous cell carcinoma of the head and neck Prostate adenocarcinoma Breast neoplasm Medulloblastoma Uterine carcinosarcoma Ovarian serous cystadenocarcinoma Gastric adenocarcinoma Carcinoma of esophagus Brainstem glioma Acute myeloid leukemia B-cell chronic lymphocytic leukemia Squamous cell lung carcinoma Hepatocellular carcinoma Neoplasm of the large intestine Small cell lung carcinoma Lung adenocarcinoma Glioblastoma Li-Fraumeni syndrome Neoplasm of ovary Li-Fraumeni syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA10580917	rs_28934576	6 SubmittersRCV000222860 RCV000418732 RCV000419080 RCV000422030 RCV000419328 RCV000419898 RCV000420123 RCV000426561 RCV000421059 RCV000426712 RCV000427328 RCV000427811 RCV000429434 RCV000429654 RCV000431744 RCV000431835 RCV000436356 RCV000439039 RCV000439246 RCV000440313 RCV000434099 RCV000437116 RCV000437377 RCV000444938 RCV000442511 RCV000553607 RCV000785460 RCV002288863
NM_000546.6(TP53):c.815T>G (p.Val272Gly)	SNV Germline/somatic	Chr17:7673805	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Breast neoplasm Malignant neoplasm of body of uterus Ovarian serous cystadenocarcinoma Gastric adenocarcinoma Pancreatic adenocarcinoma Squamous cell carcinoma of the skin Squamous cell carcinoma of the head and neck Multiple myeloma Neoplasm of the large intestine Transitional cell carcinoma of the bladder Lung adenocarcinoma Papillary renal cell carcinoma type 1 Medulloblastoma Li-Fraumeni syndrome Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA10580918	rs_876660333	4 SubmittersRCV000220536 RCV000422297 RCV000421184 RCV000419845 RCV000420090 RCV000431226 RCV000441216 RCV000441467 RCV000427960 RCV000430105 RCV000421439 RCV000432569 RCV000439065 RCV000444129 RCV002515714 RCV004020685
NM_000546.6(TP53):c.797G>T (p.Gly266Val)	SNV Germline/somatic	Chr17:7673823	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Lung adenocarcinoma Neoplasm of brain Pancreatic adenocarcinoma Squamous cell carcinoma of the head and neck Ovarian serous cystadenocarcinoma Carcinoma of esophagus Glioblastoma Squamous cell carcinoma of the skin Breast neoplasm Small cell lung carcinoma Hepatocellular carcinoma Transitional cell carcinoma of the bladder Uterine carcinosarcoma Malignant melanoma of skin Squamous cell lung carcinoma Neoplasm of the large intestine B-cell chronic lymphocytic leukemia Malignant neoplasm of body of uterus Li-Fraumeni syndrome 1 Li-Fraumeni syndrome	Criteria Provided Conflicting Classifications	CA10580919	rs_193920774	4 SubmittersRCV000220597 RCV000422392 RCV000424659 RCV000433685 RCV000435298 RCV000439374 RCV000440058 RCV000422798 RCV000427379 RCV000428065 RCV000429134 RCV000434748 RCV000417840 RCV000437591 RCV000444359 RCV000434911 RCV000423426 RCV000444283 RCV000445304 RCV002288888 RCV001854689
NM_000546.6(TP53):c.764T>A (p.Ile255Asn)	SNV Germline/somatic	Chr17:7674199	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Lung adenocarcinoma Neoplasm of brain Glioblastoma Breast neoplasm B-cell chronic lymphocytic leukemia Pancreatic adenocarcinoma Carcinoma of esophagus Li-Fraumeni syndrome Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA10580923	rs_876659675	5 SubmittersRCV000221023 RCV000440110 RCV000441998 RCV000425285 RCV000432689 RCV000422868 RCV000432486 RCV000433813 RCV000633370 RCV002288875
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.638G>C (p.Arg213Pro)	SNV Germline/somatic	Chr17:7674893	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Squamous cell carcinoma of the skin Ovarian serous cystadenocarcinoma Breast neoplasm Squamous cell lung carcinoma Uterine carcinosarcoma Squamous cell carcinoma of the head and neck Hepatocellular carcinoma Prostate adenocarcinoma Lung adenocarcinoma Carcinoma of esophagus Neoplasm of brain Malignant neoplasm of body of uterus Adenoid cystic carcinoma Papillary renal cell carcinoma type 1 Transitional cell carcinoma of the bladder Gastric adenocarcinoma Glioblastoma Malignant melanoma of skin Adrenal cortex carcinoma Pancreatic adenocarcinoma Nasopharyngeal neoplasm Neoplasm of the large intestine not specified Li-Fraumeni syndrome 1 Li-Fraumeni syndrome	Criteria Provided Multiple Submitters No Conflicts	CA10580932	rs_587778720	5 SubmittersRCV000220461 RCV000420213 RCV000424407 RCV000426111 RCV000429975 RCV000441598 RCV000419521 RCV000423147 RCV000418520 RCV000423776 RCV000441029 RCV000425014 RCV000443926 RCV000430230 RCV000430895 RCV000434458 RCV000435742 RCV000436779 RCV000431639 RCV000433848 RCV000443850 RCV000440212 RCV000440917 RCV000506128 RCV002288865 RCV002518297
NM_000546.6(TP53):c.604C>G (p.Arg202Gly)	SNV Germline	Chr17:7674927	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome	Criteria Provided Conflicting Classifications	CA10580933	rs_587780072	3 SubmittersRCV000218191 RCV003509516
NM_000546.6(TP53):c.587G>C (p.Arg196Pro)	SNV Germline/somatic	Chr17:7674944	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Neoplasm of the large intestine Squamous cell carcinoma of the head and neck Papillary renal cell carcinoma type 1 Carcinoma of esophagus Squamous cell lung carcinoma Neoplasm of brain Small cell lung carcinoma Breast neoplasm Ovarian serous cystadenocarcinoma Lung adenocarcinoma Malignant melanoma of skin Multiple myeloma Squamous cell carcinoma of the skin Pancreatic adenocarcinoma Gastric adenocarcinoma Glioblastoma Li-Fraumeni syndrome Li-Fraumeni syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA10580934	rs_483352697	6 SubmittersRCV000216410 RCV000418400 RCV000423798 RCV000427483 RCV000431695 RCV000443813 RCV000443927 RCV000419494 RCV000425092 RCV000429772 RCV000433800 RCV000435372 RCV000436292 RCV000426017 RCV000434064 RCV000440531 RCV000440866 RCV003114386 RCV004020663
NM_000546.6(TP53):c.577C>T (p.His193Tyr)	SNV Germline/somatic	Chr17:7674954	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome B-cell chronic lymphocytic leukemia Neoplasm of brain Uterine carcinosarcoma Transitional cell carcinoma of the bladder Ovarian serous cystadenocarcinoma Papillary renal cell carcinoma, sporadic Hepatocellular carcinoma Brainstem glioma Malignant neoplasm of body of uterus Condition: not provided Gastric adenocarcinoma Pancreatic adenocarcinoma Carcinoma of esophagus Squamous cell carcinoma of the head and neck Prostate adenocarcinoma Lung adenocarcinoma Neoplasm of the large intestine Acute myeloid leukemia Breast neoplasm Squamous cell lung carcinoma Small cell lung carcinoma Li-Fraumeni syndrome Malignant tumor of urinary bladder Li-Fraumeni syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA10580936	rs_876658468	7 SubmittersRCV000221478 RCV000424900 RCV000430089 RCV000436284 RCV000444740 RCV000445008 RCV000419469 RCV000419839 RCV000423524 RCV000426264 RCV000412758 RCV000418749 RCV000421204 RCV000440111 RCV000425998 RCV000431464 RCV000432551 RCV000429902 RCV000437380 RCV000441207 RCV000434647 RCV000441502 RCV000809571 RCV003332145 RCV002288851
NM_000546.6(TP53):c.569C>G (p.Pro190Arg)	SNV Germline	Chr17:7674962	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA10580937	rs_876660825	3 SubmittersRCV000222080 RCV001045782 RCV002288896
NM_000546.6(TP53):c.329G>C (p.Arg110Pro)	SNV Germline	Chr17:7676040	Pathogenic/Likely pathogenic	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.273G>A (p.Trp91Ter)	SNV Germline/somatic	Chr17:7676096	Pathogenic	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Condition: not provided Li-Fraumeni syndrome 1 Neoplasm of ovary	Criteria Provided Multiple Submitters No Conflicts	CA10580953	rs_876660548	9 SubmittersRCV000220815 RCV000233967 RCV000657656 RCV001028065 RCV000785284
NM_000546.6(TP53):c.233C>G (p.Ala78Gly)	SNV Germline	Chr17:7676136	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA10580955	rs_876658527	5 SubmittersRCV000219512 RCV000552207 RCV002288854
NM_000546.6(TP53):c.214C>A (p.Pro72Thr)	SNV Germline	Chr17:7676155	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome	Criteria Provided Conflicting Classifications	CA003071	rs_587782769	3 SubmittersRCV000223537 RCV001221060
NM_000546.6(TP53):c.158G>A (p.Trp53Ter)	SNV Germline/somatic	Chr17:7676211	Pathogenic	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 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.146A>G (p.Asp49Gly)	SNV Germline	Chr17:7676223	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome	Criteria Provided Conflicting Classifications	CA003170	rs_759728549	3 SubmittersRCV000219898 RCV000702036
NM_000546.6(TP53):c.14A>G (p.Gln5Arg)	SNV Germline	Chr17:7676581	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Condition: not provided Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA003990	rs_781595324	6 SubmittersRCV000220312 RCV000550564 RCV001575870 RCV002288887
NM_000546.6(TP53):c.1100+8A>G	SNV Germline	Chr17:7670601	Conflicting classifications of pathogenicity	Li-Fraumeni syndrome not specified Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA10583673	rs_878854062	4 SubmittersRCV000229362 RCV000437181 RCV000580314
NM_000546.6(TP53):c.845G>A (p.Arg282Gln)	SNV Germline/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.743G>C (p.Arg248Pro)	SNV Germline/somatic	Chr17:7674220	Pathogenic/Likely pathogenic	Li-Fraumeni syndrome Gastric adenocarcinoma Malignant neoplasm of body of uterus Pancreatic adenocarcinoma Malignant melanoma of skin Breast neoplasm Glioblastoma Squamous cell carcinoma of the head and neck Neoplasm of the large intestine Medulloblastoma B-cell chronic lymphocytic leukemia Hepatocellular carcinoma Ovarian serous cystadenocarcinoma Multiple myeloma Neoplasm of brain Squamous cell lung carcinoma Squamous cell carcinoma of the skin Acute myeloid leukemia Lung adenocarcinoma Small cell lung carcinoma Uterine carcinosarcoma Myelodysplastic syndrome Prostate adenocarcinoma Brainstem glioma Carcinoma of esophagus Transitional cell carcinoma of the bladder Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA10583676	rs_11540652	4 SubmittersRCV000229442 RCV000420292 RCV000421633 RCV000425773 RCV000430314 RCV000434831 RCV000431663 RCV000432304 RCV000432999 RCV000436850 RCV000438849 RCV000445077 RCV000418894 RCV000419610 RCV000426089 RCV000435488 RCV000436124 RCV000441018 RCV000444130 RCV000444805 RCV000420936 RCV000424795 RCV000425414 RCV000430964 RCV000441674 RCV000443867 RCV002378977 RCV004020765
NM_000546.6(TP53):c.673-1G>T	SNV Germline/somatic	Chr17:7674291	Pathogenic	Li-Fraumeni syndrome Condition: not provided	Criteria Provided Single Submitter	CA10583677	rs_878854073	2 SubmittersRCV000228996 RCV001610535
NM_000546.6(TP53):c.652G>A (p.Val218Met)	SNV Germline	Chr17:7674879	Conflicting classifications of pathogenicity	Li-Fraumeni syndrome Condition: not provided Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA10583679	rs_878854072	3 SubmittersRCV000228072 RCV001357802 RCV002256136
NM_000546.6(TP53):c.375G>T (p.Thr125=)	SNV Germline	Chr17:7675994	Pathogenic/Likely pathogenic	Li-Fraumeni syndrome Condition: not provided Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA10575452	rs_55863639	4 SubmittersRCV000229813 RCV000786841 RCV002347868 RCV004020764
NM_000546.6(TP53):c.97-4A>T	SNV Germline	Chr17:7676276	Conflicting classifications of pathogenicity	Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA003276	rs_746791390	4 SubmittersRCV000229785 RCV000563713 RCV001682937
NM_007194.4(CHEK2):c.683+1G>A	SNV Germline	Chr22:28719394	Likely pathogenic	Familial cancer of breast Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 2	Criteria Provided Multiple Submitters No Conflicts	CA10583911	rs_786203650	5 SubmittersRCV000229878 RCV000571803 RCV003333745
NM_000546.6(TP53):c.794T>C (p.Leu265Pro)	SNV Germline	Chr17:7673826	Pathogenic/Likely pathogenic	Condition: not provided Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1 Rhabdomyosarcoma	Criteria Provided Multiple Submitters No Conflicts	CA10584586	rs_879253942	7 SubmittersRCV000235981 RCV000554509 RCV000564617 RCV000662855 RCV001257518
NM_000546.6(TP53):c.698A>G (p.His233Arg)	SNV Germline	Chr17:7674265	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA10584588	rs_879254233	4 SubmittersRCV000235730 RCV000569303 RCV001302749 RCV002288936
NM_000546.6(TP53):c.655C>T (p.Pro219Ser)	SNV Germline	Chr17:7674876	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1 Li-Fraumeni syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA10584589	rs_879253894	5 SubmittersRCV000492115 RCV000576805 RCV001065230 RCV001705300
NM_000546.6(TP53):c.538G>A (p.Glu180Lys)	SNV Germline	Chr17:7675074	Likely pathogenic	Condition: not provided Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome	Reviewed By Expert Panel	CA10584590	rs_879253911	4 SubmittersRCV000235571 RCV000492319 RCV000544036
NM_000546.6(TP53):c.490A>G (p.Lys164Glu)	SNV Germline	Chr17:7675122	Conflicting classifications of pathogenicity	Condition: not provided Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA10584591	rs_879254249	4 SubmittersRCV000235745 RCV000541487 RCV002288938 RCV002288937
NM_000546.6(TP53):c.473G>C (p.Arg158Pro)	SNV Germline	Chr17:7675139	Likely pathogenic	Condition: not provided Li-Fraumeni syndrome Squamous cell carcinoma of the head and neck Li-Fraumeni syndrome 1 Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA10584592	rs_587782144	5 SubmittersRCV000236862 RCV000548853 RCV000989719 RCV002288931 RCV002288932
NM_000546.6(TP53):c.559+8G>A	SNV Germline	Chr17:7675045	Conflicting classifications of pathogenicity	not specified Li-Fraumeni syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA002364	rs_775915220	5 SubmittersRCV000253181 RCV001078796 RCV000726139
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.643A>G (p.Ser215Gly)	SNV Germline/somatic	Chr17:7674888	Conflicting classifications of pathogenicity	Condition: not provided Small cell lung carcinoma Gastric adenocarcinoma Carcinoma of esophagus Pancreatic adenocarcinoma Acute myeloid leukemia Ovarian serous cystadenocarcinoma Hepatocellular carcinoma Breast neoplasm Lung adenocarcinoma Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Neoplasm of ovary not specified Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA10588671	rs_886039484	9 SubmittersRCV000255449 RCV000418361 RCV000427564 RCV000437324 RCV000439730 RCV000445278 RCV000429054 RCV000430142 RCV000436667 RCV000419408 RCV000700891 RCV000772138 RCV000785239 RCV002282093 RCV004021028
NM_000546.6(TP53):c.376T>G (p.Tyr126Asp)	SNV Germline/somatic	Chr17:7675236	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Neoplasm of ovary Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA10588672	rs_886039483	5 SubmittersRCV000255685 RCV000568595 RCV000705124 RCV000785482 RCV004021027
NM_000546.6(TP53):c.673-37C>T	SNV Germline	Chr17:7674327	Conflicting classifications of pathogenicity	Li-Fraumeni syndrome 1 not specified Condition: not provided TP53-related disorder Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA001891	rs_374907737	6 SubmittersRCV000409763 RCV001796970 RCV001810875 RCV003892009 RCV002288981
NM_000546.6(TP53):c.74+9A>C	SNV Germline	Chr17:7676512	Conflicting classifications of pathogenicity	Li-Fraumeni syndrome 1 Li-Fraumeni syndrome Breast and/or ovarian cancer	Criteria Provided Conflicting Classifications	CA16042179	rs_1057517593	5 SubmittersRCV000410984 RCV000469570 RCV003150194
NM_000546.6(TP53):c.731G>A (p.Gly244Asp)	SNV Germline/somatic	Chr17:7674232	Pathogenic/Likely pathogenic	Condition: not provided Glioblastoma Small cell lung carcinoma Neoplasm of the large intestine Ovarian serous cystadenocarcinoma Squamous cell lung carcinoma Lung adenocarcinoma Carcinoma of esophagus Uterine carcinosarcoma Hepatocellular carcinoma Squamous cell carcinoma of the head and neck Neoplasm of brain Li-Fraumeni syndrome Malignant neoplasm of body of uterus Hereditary cancer-predisposing syndrome Gastric adenocarcinoma Neoplasm of ovary Li-Fraumeni syndrome 1 Gastric cancer	Criteria Provided Multiple Submitters No Conflicts	CA16043048	rs_985033810	10 SubmittersRCV000413969 RCV000421269 RCV000422456 RCV000419371 RCV000427142 RCV000423079 RCV000429659 RCV000428997 RCV000431939 RCV000440742 RCV000432739 RCV000444195 RCV000477083 RCV000444224 RCV000561866 RCV000439239 RCV000785537 RCV002288986 RCV003168599
NM_000546.6(TP53):c.746G>C (p.Arg249Thr)	SNV Germline/somatic	Chr17:7674217	Pathogenic/Likely pathogenic	Medulloblastoma Ovarian serous cystadenocarcinoma Squamous cell lung carcinoma Malignant neoplasm of body of uterus Glioblastoma Breast neoplasm Prostate adenocarcinoma Pancreatic adenocarcinoma Squamous cell carcinoma of the skin Squamous cell carcinoma of the head and neck Hepatocellular carcinoma Gastric adenocarcinoma Carcinoma of esophagus Uterine carcinosarcoma Small cell lung carcinoma Acute myeloid leukemia Lung adenocarcinoma Condition: not provided Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA16602484	rs_587782329	4 SubmittersRCV000420349 RCV000423288 RCV000424367 RCV000425028 RCV000422597 RCV000426063 RCV000432872 RCV000431816 RCV000433555 RCV000430687 RCV000438147 RCV000440254 RCV000444506 RCV000440948 RCV000441532 RCV000444945 RCV000445262 RCV001311109 RCV002392945 RCV004022197
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.518T>C (p.Val173Ala)	SNV Germline/somatic	Chr17:7675094	Pathogenic/Likely pathogenic	Ovarian serous cystadenocarcinoma Carcinoma of esophagus Adrenal cortex carcinoma Neoplasm of brain Malignant neoplasm of body of uterus Brainstem glioma Small cell lung carcinoma Pancreatic adenocarcinoma Gastric adenocarcinoma Hepatocellular carcinoma Squamous cell carcinoma of the head and neck Breast neoplasm Acute myeloid leukemia Lung adenocarcinoma Neoplasm of the large intestine Malignant melanoma of skin Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Li-Fraumeni syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA16602486	rs_1057519747	5 SubmittersRCV000420735 RCV000421990 RCV000419648 RCV000420982 RCV000428561 RCV000430804 RCV000437348 RCV000432237 RCV000438619 RCV000438785 RCV000439921 RCV000437553 RCV000426247 RCV000445170 RCV000430991 RCV000436282 RCV000775880 RCV001237773 RCV002289516
NM_000546.6(TP53):c.404G>T (p.Cys135Phe)	SNV Germline/somatic	Chr17:7675208	Pathogenic/Likely pathogenic	Neoplasm of brain Prostate adenocarcinoma Adrenal cortex carcinoma Neoplasm of the large intestine Carcinoma of esophagus Lung adenocarcinoma Ovarian serous cystadenocarcinoma Breast neoplasm Gastric adenocarcinoma Pancreatic adenocarcinoma Squamous cell lung carcinoma Hepatocellular carcinoma Transitional cell carcinoma of the bladder Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Li-Fraumeni syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA16602985	rs_587781991	5 SubmittersRCV000417503 RCV000418582 RCV000425788 RCV000426876 RCV000427781 RCV000428180 RCV000434318 RCV000436707 RCV000435797 RCV000436440 RCV000438861 RCV000444308 RCV000444605 RCV000492398 RCV001203469 RCV004022199
NM_000546.6(TP53):c.403T>C (p.Cys135Arg)	SNV Germline/somatic	Chr17:7675209	Pathogenic/Likely pathogenic	Neoplasm of brain Breast neoplasm Prostate adenocarcinoma Lung adenocarcinoma Adrenal cortex carcinoma Carcinoma of esophagus Pancreatic adenocarcinoma Hepatocellular carcinoma Neoplasm of the large intestine Gastric adenocarcinoma Squamous cell lung carcinoma Transitional cell carcinoma of the bladder Ovarian serous cystadenocarcinoma Li-Fraumeni syndrome Li-Fraumeni syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA16602986	rs_1057519975	3 SubmittersRCV000418091 RCV000423943 RCV000422903 RCV000425388 RCV000426036 RCV000430504 RCV000433604 RCV000432610 RCV000434656 RCV000440105 RCV000441192 RCV000444209 RCV000444995 RCV001383908 RCV004022200
NM_000546.6(TP53):c.405C>G (p.Cys135Trp)	SNV Germline/somatic	Chr17:7675207	Conflicting classifications of pathogenicity	Carcinoma of esophagus Pancreatic adenocarcinoma Ovarian serous cystadenocarcinoma Hepatocellular carcinoma Lung adenocarcinoma Adrenal cortex carcinoma Prostate adenocarcinoma Neoplasm of brain Breast neoplasm Neoplasm of the large intestine Transitional cell carcinoma of the bladder Squamous cell lung carcinoma Gastric adenocarcinoma Condition: not provided Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA16602987	rs_1057519976	5 SubmittersRCV000417767 RCV000420893 RCV000420220 RCV000423274 RCV000424924 RCV000429841 RCV000430892 RCV000432245 RCV000434979 RCV000435704 RCV000439451 RCV000440498 RCV000441628 RCV000479510 RCV000556410 RCV002289519 RCV002289518
NM_000546.6(TP53):c.403T>G (p.Cys135Gly)	SNV Germline/somatic	Chr17:7675209	Likely pathogenic	Prostate adenocarcinoma Gastric adenocarcinoma Squamous cell lung carcinoma Neoplasm of the large intestine Ovarian serous cystadenocarcinoma Carcinoma of esophagus Transitional cell carcinoma of the bladder Breast neoplasm Adrenal cortex carcinoma Pancreatic adenocarcinoma Hepatocellular carcinoma Lung adenocarcinoma Neoplasm of brain Neoplasm of ovary Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Li-Fraumeni syndrome 1	Reviewed By Expert Panel	CA16602989	rs_1057519975	5 SubmittersRCV000420954 RCV000423071 RCV000422074 RCV000418158 RCV000429525 RCV000428411 RCV000433361 RCV000437581 RCV000432330 RCV000438642 RCV000445231 RCV000439732 RCV000444598 RCV000785515 RCV000570655 RCV000991142 RCV004022201
NM_000546.6(TP53):c.423C>G (p.Cys141Trp)	SNV Germline/somatic	Chr17:7675189	Pathogenic/Likely pathogenic	Acute myeloid leukemia Multiple myeloma Squamous cell lung carcinoma Neoplasm of the large intestine Breast neoplasm Malignant neoplasm of body of uterus Pancreatic adenocarcinoma Prostate adenocarcinoma Papillary renal cell carcinoma type 1 Neoplasm of brain Lung adenocarcinoma Hereditary cancer-predisposing syndrome Squamous cell carcinoma of the head and neck Li-Fraumeni syndrome	Criteria Provided Multiple Submitters No Conflicts	CA16602990	rs_1057519977	3 SubmittersRCV000425931 RCV000423924 RCV000424802 RCV000422816 RCV000430241 RCV000434169 RCV000431589 RCV000434797 RCV000445034 RCV000440499 RCV000442353 RCV000492201 RCV000444942 RCV000467641
NM_000546.6(TP53):c.421T>C (p.Cys141Arg)	SNV Germline/somatic	Chr17:7675191	Conflicting classifications of pathogenicity	Neoplasm of brain Acute myeloid leukemia Lung adenocarcinoma Multiple myeloma Neoplasm of the large intestine Papillary renal cell carcinoma type 1 Squamous cell lung carcinoma Breast neoplasm Malignant neoplasm of body of uterus Prostate adenocarcinoma Squamous cell carcinoma of the head and neck Pancreatic adenocarcinoma Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA16602991	rs_1057519978	3 SubmittersRCV000419723 RCV000420817 RCV000418678 RCV000423623 RCV000425407 RCV000432161 RCV000430017 RCV000437414 RCV000431037 RCV000436190 RCV000440220 RCV000441312 RCV001861481 RCV002328907
NM_000546.6(TP53):c.422G>T (p.Cys141Phe)	SNV Germline/somatic	Chr17:7675190	Conflicting classifications of pathogenicity	Acute myeloid leukemia Papillary renal cell carcinoma type 1 Malignant neoplasm of body of uterus Lung adenocarcinoma Prostate adenocarcinoma Squamous cell lung carcinoma Breast neoplasm Multiple myeloma Squamous cell carcinoma of the head and neck Neoplasm of brain Neoplasm of the large intestine Pancreatic adenocarcinoma Li-Fraumeni syndrome	Criteria Provided Conflicting Classifications	CA16602994	rs_587781288	3 SubmittersRCV000417404 RCV000418478 RCV000423030 RCV000425219 RCV000427605 RCV000429427 RCV000433302 RCV000436176 RCV000435499 RCV000437866 RCV000444376 RCV000445236 RCV001214540
NM_000546.6(TP53):c.527G>T (p.Cys176Phe)	SNV Germline/somatic	Chr17:7675085	Pathogenic/Likely pathogenic	Neoplasm of the large intestine Gastric adenocarcinoma Prostate adenocarcinoma Transitional cell carcinoma of the bladder Lung adenocarcinoma Papillary renal cell carcinoma type 1 Breast neoplasm Pancreatic adenocarcinoma Hepatocellular carcinoma Squamous cell lung carcinoma Squamous cell carcinoma of the head and neck Neoplasm of brain Carcinoma of esophagus Acute myeloid leukemia Ovarian serous cystadenocarcinoma Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA16602995	rs_786202962	4 SubmittersRCV000423829 RCV000424063 RCV000423447 RCV000425950 RCV000424490 RCV000429162 RCV000429805 RCV000431923 RCV000435143 RCV000434780 RCV000440706 RCV000440448 RCV000442295 RCV000445093 RCV000445073 RCV001244047 RCV002348142 RCV004022202
NM_000546.6(TP53):c.526T>A (p.Cys176Ser)	SNV Germline/somatic	Chr17:7675086	Conflicting classifications of pathogenicity	Acute myeloid leukemia Lung adenocarcinoma Gastric adenocarcinoma Neoplasm of brain Papillary renal cell carcinoma type 1 Breast neoplasm Carcinoma of esophagus Squamous cell lung carcinoma Squamous cell carcinoma of the head and neck Prostate adenocarcinoma Hepatocellular carcinoma Pancreatic adenocarcinoma Transitional cell carcinoma of the bladder Ovarian serous cystadenocarcinoma Neoplasm of the large intestine Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Condition: not provided Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA16602996	rs_967461896	5 SubmittersRCV000417611 RCV000420420 RCV000420646 RCV000425621 RCV000428308 RCV000426275 RCV000427846 RCV000428520 RCV000433667 RCV000436945 RCV000439156 RCV000437617 RCV000439650 RCV000442242 RCV000444511 RCV000492644 RCV001060393 RCV001352918 RCV004022203
NM_000546.6(TP53):c.526T>G (p.Cys176Gly)	SNV Germline/somatic	Chr17:7675086	Conflicting classifications of pathogenicity	Transitional cell carcinoma of the bladder Prostate adenocarcinoma Neoplasm of the large intestine Ovarian serous cystadenocarcinoma Hepatocellular carcinoma Neoplasm of brain Pancreatic adenocarcinoma Squamous cell carcinoma of the head and neck Papillary renal cell carcinoma type 1 Gastric adenocarcinoma Acute myeloid leukemia Breast neoplasm Lung adenocarcinoma Squamous cell lung carcinoma Carcinoma of esophagus Neoplasm of ovary Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA16602997	rs_967461896	5 SubmittersRCV000417784 RCV000417996 RCV000423257 RCV000422633 RCV000425147 RCV000426543 RCV000427160 RCV000432450 RCV000434994 RCV000434565 RCV000433975 RCV000442522 RCV000437830 RCV000439618 RCV000445223 RCV000785535 RCV001023834 RCV003621529 RCV004022204
NM_000546.6(TP53):c.528C>G (p.Cys176Trp)	SNV Germline/somatic	Chr17:7675084	Conflicting classifications of pathogenicity	Squamous cell carcinoma of the head and neck Gastric adenocarcinoma Papillary renal cell carcinoma type 1 Prostate adenocarcinoma Carcinoma of esophagus Neoplasm of brain Transitional cell carcinoma of the bladder Neoplasm of the large intestine Lung adenocarcinoma Breast neoplasm Hepatocellular carcinoma Ovarian serous cystadenocarcinoma Acute myeloid leukemia Pancreatic adenocarcinoma Squamous cell lung carcinoma Hereditary cancer-predisposing syndrome Neoplasm of ovary Li-Fraumeni syndrome TP53-related disorder Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA16602998	rs_1057519980	7 SubmittersRCV000418563 RCV000422732 RCV000424653 RCV000421434 RCV000424249 RCV000429475 RCV000429952 RCV000430137 RCV000434070 RCV000440822 RCV000432087 RCV000439276 RCV000445065 RCV000441518 RCV000442369 RCV000567103 RCV000785243 RCV000530055 RCV003401413 RCV004022205
NM_000546.6(TP53):c.526T>C (p.Cys176Arg)	SNV Germline/somatic	Chr17:7675086	Conflicting classifications of pathogenicity	Neoplasm of brain Papillary renal cell carcinoma type 1 Breast neoplasm Gastric adenocarcinoma Ovarian serous cystadenocarcinoma Lung adenocarcinoma Pancreatic adenocarcinoma Neoplasm of the large intestine Prostate adenocarcinoma Squamous cell lung carcinoma Transitional cell carcinoma of the bladder Carcinoma of esophagus Hepatocellular carcinoma Squamous cell carcinoma of the head and neck Acute myeloid leukemia Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Neoplasm of ovary Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA16602999	rs_967461896	6 SubmittersRCV000419497 RCV000419681 RCV000421755 RCV000423671 RCV000425379 RCV000430429 RCV000431070 RCV000436082 RCV000431573 RCV000436752 RCV000430876 RCV000438958 RCV000436236 RCV000444713 RCV000441815 RCV001023833 RCV001044520 RCV000785469 RCV004022206
NM_000546.6(TP53):c.713G>T (p.Cys238Phe)	SNV Germline/somatic	Chr17:7674250	Pathogenic/Likely pathogenic	Malignant neoplasm of body of uterus Breast neoplasm Pancreatic adenocarcinoma Multiple myeloma Lung adenocarcinoma Neoplasm of brain Squamous cell carcinoma of the head and neck Gastric adenocarcinoma Ovarian serous cystadenocarcinoma Uterine carcinosarcoma B-cell chronic lymphocytic leukemia Hepatocellular carcinoma Neoplasm of uterine cervix Neoplasm of the large intestine Carcinoma of esophagus Glioblastoma Transitional cell carcinoma of the bladder Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA16603000	rs_730882005	5 SubmittersRCV000418555 RCV000417498 RCV000422481 RCV000422719 RCV000425072 RCV000427235 RCV000427531 RCV000428817 RCV000433989 RCV000432745 RCV000435343 RCV000433862 RCV000435149 RCV000439349 RCV000440369 RCV000442469 RCV000444988 RCV000473420 RCV002365459 RCV004022207
NM_000546.6(TP53):c.713G>C (p.Cys238Ser)	SNV Germline/somatic	Chr17:7674250	Pathogenic/Likely pathogenic	Neoplasm of brain Squamous cell carcinoma of the head and neck Malignant neoplasm of body of uterus Gastric adenocarcinoma B-cell chronic lymphocytic leukemia Transitional cell carcinoma of the bladder Glioblastoma Uterine carcinosarcoma Neoplasm of the large intestine Breast neoplasm Hepatocellular carcinoma Carcinoma of esophagus Neoplasm of uterine cervix Ovarian serous cystadenocarcinoma Pancreatic adenocarcinoma Multiple myeloma Lung adenocarcinoma Li-Fraumeni syndrome Li-Fraumeni syndrome 1 Condition: not provided Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA16603001	rs_730882005	7 SubmittersRCV000418923 RCV000419485 RCV000423226 RCV000424531 RCV000425465 RCV000425867 RCV000424302 RCV000429749 RCV000432222 RCV000434344 RCV000435732 RCV000434584 RCV000440842 RCV000439773 RCV000441115 RCV000442527 RCV000442617 RCV001067780 RCV001523834 RCV001551247 RCV002289520
NM_000546.6(TP53):c.712T>C (p.Cys238Arg)	SNV Germline/somatic	Chr17:7674251	Pathogenic/Likely pathogenic	B-cell chronic lymphocytic leukemia Hepatocellular carcinoma Glioblastoma Ovarian serous cystadenocarcinoma Neoplasm of uterine cervix Multiple myeloma Neoplasm of the large intestine Pancreatic adenocarcinoma Malignant neoplasm of body of uterus Gastric adenocarcinoma Carcinoma of esophagus Uterine carcinosarcoma Squamous cell carcinoma of the head and neck Hereditary cancer-predisposing syndrome Lung adenocarcinoma Transitional cell carcinoma of the bladder Neoplasm of brain Breast neoplasm Li-Fraumeni syndrome Li-Fraumeni syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA16603002	rs_1057519981	5 SubmittersRCV000421933 RCV000428210 RCV000419348 RCV000430482 RCV000420409 RCV000421679 RCV000437199 RCV000424052 RCV000437018 RCV000426193 RCV000438447 RCV000430655 RCV000433046 RCV000492666 RCV000441834 RCV000442237 RCV000431946 RCV000441879 RCV000812726 RCV002289521
NM_000546.6(TP53):c.712T>G (p.Cys238Gly)	SNV Germline/somatic	Chr17:7674251	Pathogenic	Lung adenocarcinoma Carcinoma of esophagus Uterine carcinosarcoma Transitional cell carcinoma of the bladder Neoplasm of uterine cervix Neoplasm of the large intestine Pancreatic adenocarcinoma Ovarian serous cystadenocarcinoma B-cell chronic lymphocytic leukemia Multiple myeloma Squamous cell carcinoma of the head and neck Glioblastoma Gastric adenocarcinoma Malignant neoplasm of body of uterus Neoplasm of brain Hepatocellular carcinoma Breast neoplasm Neoplasm of ovary Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome	Criteria Provided Multiple Submitters No Conflicts	CA16603003	rs_1057519981	4 SubmittersRCV000417486 RCV000422044 RCV000420677 RCV000423396 RCV000422283 RCV000427246 RCV000428630 RCV000428804 RCV000430919 RCV000433478 RCV000437321 RCV000438876 RCV000439946 RCV000435170 RCV000443356 RCV000444792 RCV000437476 RCV000785550 RCV002365460 RCV001390630
NM_000546.6(TP53):c.725G>T (p.Cys242Phe)	SNV Germline/somatic	Chr17:7674238	Conflicting classifications of pathogenicity	Breast neoplasm Uterine carcinosarcoma Glioblastoma Squamous cell lung carcinoma Hepatocellular carcinoma B-cell chronic lymphocytic leukemia Transitional cell carcinoma of the bladder Lung adenocarcinoma Carcinoma of esophagus Gastric adenocarcinoma Squamous cell carcinoma of the head and neck Neoplasm of ovary Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA501203	rs_121912655	4 SubmittersRCV000417879 RCV000418512 RCV000424746 RCV000425032 RCV000427153 RCV000433671 RCV000435743 RCV000442305 RCV000435022 RCV000438269 RCV000442449 RCV000785473 RCV000688366 RCV002379285
NM_000546.6(TP53):c.724T>A (p.Cys242Ser)	SNV Germline/somatic	Chr17:7674239	Conflicting classifications of pathogenicity	B-cell chronic lymphocytic leukemia Squamous cell lung carcinoma Breast neoplasm Lung adenocarcinoma Squamous cell carcinoma of the head and neck Hepatocellular carcinoma Carcinoma of esophagus Gastric adenocarcinoma Glioblastoma Uterine carcinosarcoma Transitional cell carcinoma of the bladder Li-Fraumeni syndrome 1 Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome	Criteria Provided Conflicting Classifications	CA16603004	rs_1057519982	5 SubmittersRCV000419559 RCV000423712 RCV000424356 RCV000430244 RCV000429187 RCV000431566 RCV000434352 RCV000439881 RCV000441578 RCV000440943 RCV000442629 RCV000662594 RCV001026200 RCV001325155
NM_000546.6(TP53):c.726C>G (p.Cys242Trp)	SNV Germline/somatic	Chr17:7674237	Pathogenic	Squamous cell carcinoma of the head and neck Lung adenocarcinoma Hepatocellular carcinoma Glioblastoma B-cell chronic lymphocytic leukemia Squamous cell lung carcinoma Carcinoma of esophagus Uterine carcinosarcoma Gastric adenocarcinoma Breast neoplasm Transitional cell carcinoma of the bladder Li-Fraumeni syndrome	Criteria Provided Single Submitter	CA16603005	rs_375874539	2 SubmittersRCV000420256 RCV000421654 RCV000420917 RCV000422298 RCV000431682 RCV000430938 RCV000432990 RCV000432344 RCV000438862 RCV000442778 RCV000441640 RCV003621530
NM_000546.6(TP53):c.824G>T (p.Cys275Phe)	SNV Germline/somatic	Chr17:7673796	Pathogenic	Lung adenocarcinoma Pancreatic adenocarcinoma Neoplasm of brain Breast neoplasm Papillary renal cell carcinoma type 1 Squamous cell carcinoma of the head and neck Ovarian serous cystadenocarcinoma Carcinoma of esophagus Malignant melanoma of skin Neoplasm of the large intestine Adrenal cortex carcinoma Multiple myeloma Transitional cell carcinoma of the bladder Glioblastoma Hepatocellular carcinoma B-cell chronic lymphocytic leukemia Neoplasm of ovary Li-Fraumeni syndrome	Criteria Provided Single Submitter	CA16603006	rs_863224451	3 SubmittersRCV000418840 RCV000420903 RCV000423743 RCV000425095 RCV000423016 RCV000429558 RCV000428868 RCV000434455 RCV000430324 RCV000440235 RCV000441009 RCV000431612 RCV000432328 RCV000441652 RCV000436058 RCV000442601 RCV000785323 RCV001861482
NM_000546.6(TP53):c.824G>C (p.Cys275Ser)	SNV Germline/somatic	Chr17:7673796	Conflicting classifications of pathogenicity	Lung adenocarcinoma Glioblastoma Neoplasm of the large intestine Adrenal cortex carcinoma Carcinoma of esophagus Ovarian serous cystadenocarcinoma Transitional cell carcinoma of the bladder Malignant melanoma of skin Hepatocellular carcinoma B-cell chronic lymphocytic leukemia Papillary renal cell carcinoma type 1 Squamous cell carcinoma of the head and neck Pancreatic adenocarcinoma Breast neoplasm Neoplasm of brain Multiple myeloma Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome	Criteria Provided Conflicting Classifications	CA16603007	rs_863224451	4 SubmittersRCV000419235 RCV000420599 RCV000419912 RCV000423341 RCV000423990 RCV000425744 RCV000426441 RCV000431286 RCV000430590 RCV000434260 RCV000436480 RCV000437115 RCV000438476 RCV000441019 RCV000441335 RCV000441960 RCV000580293 RCV002521506
NM_000546.6(TP53):c.823T>C (p.Cys275Arg)	SNV Germline/somatic	Chr17:7673797	Conflicting classifications of pathogenicity	Neoplasm of brain Breast neoplasm Hepatocellular carcinoma Neoplasm of the large intestine Multiple myeloma Pancreatic adenocarcinoma Papillary renal cell carcinoma type 1 Transitional cell carcinoma of the bladder Lung adenocarcinoma Carcinoma of esophagus Malignant melanoma of skin Glioblastoma Adrenal cortex carcinoma B-cell chronic lymphocytic leukemia Squamous cell carcinoma of the head and neck Ovarian serous cystadenocarcinoma Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA16603008	rs_1057519983	4 SubmittersRCV000418020 RCV000420225 RCV000420853 RCV000425483 RCV000424757 RCV000426139 RCV000431136 RCV000430390 RCV000432909 RCV000433579 RCV000435695 RCV000435015 RCV000440640 RCV000441393 RCV000442259 RCV000443110 RCV001183954 RCV002521507 RCV004022208
NM_000546.6(TP53):c.841G>T (p.Asp281Tyr)	SNV Germline/somatic	Chr17:7673779	Pathogenic/Likely pathogenic	B-cell chronic lymphocytic leukemia Squamous cell lung carcinoma Transitional cell carcinoma of the bladder Breast neoplasm Squamous cell carcinoma of the head and neck Pancreatic adenocarcinoma Multiple myeloma Lung adenocarcinoma Gastric adenocarcinoma Papillary renal cell carcinoma type 1 Ovarian serous cystadenocarcinoma Hepatocellular carcinoma Glioblastoma Squamous cell carcinoma of the skin Malignant melanoma of skin Malignant neoplasm of body of uterus Neuroblastoma Uterine carcinosarcoma Li-Fraumeni syndrome Li-Fraumeni syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA16603009	rs_764146326	3 SubmittersRCV000419187 RCV000419880 RCV000421597 RCV000422382 RCV000422971 RCV000424398 RCV000427237 RCV000429763 RCV000431847 RCV000430133 RCV000432647 RCV000437480 RCV000438115 RCV000436876 RCV000440017 RCV000442319 RCV000442636 RCV000443331 RCV000792342 RCV004022209
NM_000546.6(TP53):c.841G>A (p.Asp281Asn)	SNV Germline/somatic	Chr17:7673779	Pathogenic/Likely pathogenic	Multiple myeloma Hepatocellular carcinoma Neuroblastoma Glioblastoma B-cell chronic lymphocytic leukemia Squamous cell carcinoma of the skin Breast neoplasm Malignant melanoma of skin Gastric adenocarcinoma Ovarian serous cystadenocarcinoma Transitional cell carcinoma of the bladder Uterine carcinosarcoma Papillary renal cell carcinoma type 1 Malignant neoplasm of body of uterus Lung adenocarcinoma Squamous cell carcinoma of the head and neck Pancreatic adenocarcinoma Squamous cell lung carcinoma Neoplasm of ovary Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA001503	rs_764146326	5 SubmittersRCV000418705 RCV000421233 RCV000422096 RCV000426863 RCV000424002 RCV000428837 RCV000429505 RCV000428968 RCV000426180 RCV000434267 RCV000431489 RCV000437075 RCV000439749 RCV000442054 RCV000443405 RCV000443489 RCV000436424 RCV000438896 RCV000785452 RCV000824609 RCV002446642
NM_000546.6(TP53):c.841G>C (p.Asp281His)	SNV Germline/somatic	Chr17:7673779	Pathogenic/Likely pathogenic	Malignant melanoma of skin Squamous cell lung carcinoma Neuroblastoma Squamous cell carcinoma of the skin Multiple myeloma Uterine carcinosarcoma B-cell chronic lymphocytic leukemia Papillary renal cell carcinoma type 1 Gastric adenocarcinoma Ovarian serous cystadenocarcinoma Squamous cell carcinoma of the head and neck Lung adenocarcinoma Malignant neoplasm of body of uterus Transitional cell carcinoma of the bladder Pancreatic adenocarcinoma Breast neoplasm Hepatocellular carcinoma Glioblastoma Gallbladder cancer Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA16603010	rs_764146326	5 SubmittersRCV000420094 RCV000418744 RCV000421295 RCV000419869 RCV000422034 RCV000423682 RCV000428355 RCV000427301 RCV000429459 RCV000427507 RCV000429671 RCV000434610 RCV000437082 RCV000436837 RCV000439019 RCV000438193 RCV000439212 RCV000443566 RCV001292542 RCV001306199 RCV002446644 RCV004022210
NM_000546.6(TP53):c.856G>C (p.Glu286Gln)	SNV Germline/somatic	Chr17:7673764	Conflicting classifications of pathogenicity	Lung adenocarcinoma Squamous cell carcinoma of the skin Squamous cell carcinoma of the head and neck Acute myeloid leukemia Malignant melanoma of skin Gastric adenocarcinoma Carcinoma of esophagus Transitional cell carcinoma of the bladder Small cell lung carcinoma Neoplasm of the large intestine Pancreatic adenocarcinoma Ovarian serous cystadenocarcinoma Neoplasm of brain Breast neoplasm Hepatocellular carcinoma Li-Fraumeni syndrome Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA16603013	rs_786201059	3 SubmittersRCV000418557 RCV000418192 RCV000422952 RCV000423598 RCV000425968 RCV000428400 RCV000428433 RCV000431245 RCV000433190 RCV000435596 RCV000436841 RCV000435774 RCV000442043 RCV000441313 RCV000441497 RCV001048274 RCV004022211
NM_000546.6(TP53):c.857A>C (p.Glu286Ala)	SNV Somatic	Chr17:7673763	Likely pathogenic	Lung adenocarcinoma Neoplasm of brain Neoplasm of the large intestine Acute myeloid leukemia Hepatocellular carcinoma Pancreatic adenocarcinoma Transitional cell carcinoma of the bladder Squamous cell carcinoma of the head and neck Breast neoplasm Malignant melanoma of skin Gastric adenocarcinoma Carcinoma of esophagus Ovarian serous cystadenocarcinoma Small cell lung carcinoma Squamous cell carcinoma of the skin Li-Fraumeni syndrome 1	Criteria Provided Single Submitter	CA16603015	rs_1057519985	2 SubmittersRCV000419358 RCV000421888 RCV000421331 RCV000423414 RCV000424971 RCV000427672 RCV000430190 RCV000431576 RCV000433092 RCV000434375 RCV000439537 RCV000437905 RCV000443500 RCV000443287 RCV000444095 RCV004022212
NM_000546.6(TP53):c.809T>C (p.Phe270Ser)	SNV Germline/somatic	Chr17:7673811	Pathogenic/Likely pathogenic	Gastric adenocarcinoma Lung adenocarcinoma Carcinoma of esophagus Squamous cell carcinoma of the head and neck Squamous cell lung carcinoma Ovarian serous cystadenocarcinoma Neoplasm of brain Breast neoplasm Squamous cell carcinoma of the skin Condition: not provided Li-Fraumeni syndrome Li-Fraumeni syndrome 1 Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA16603016	rs_1057519986	5 SubmittersRCV000418965 RCV000419602 RCV000421032 RCV000426140 RCV000429241 RCV000429016 RCV000437299 RCV000439252 RCV000438621 RCV000481465 RCV000824076 RCV002289522 RCV002289523
NM_000546.6(TP53):c.808T>A (p.Phe270Ile)	SNV Germline/somatic	Chr17:7673812	Conflicting classifications of pathogenicity	Lung adenocarcinoma Squamous cell lung carcinoma Carcinoma of esophagus Breast neoplasm Gastric adenocarcinoma Ovarian serous cystadenocarcinoma Squamous cell carcinoma of the skin Squamous cell carcinoma of the head and neck Neoplasm of brain Neoplasm of ovary Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA16603018	rs_1057519988	4 SubmittersRCV000417655 RCV000418371 RCV000417883 RCV000430718 RCV000427865 RCV000425994 RCV000438999 RCV000436003 RCV000436185 RCV000785257 RCV001362325 RCV002418243
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>T (p.Gly244Cys)	SNV Germline/somatic	Chr17:7674233	Conflicting classifications of pathogenicity	Neoplasm of the large intestine Glioblastoma Hepatocellular carcinoma Neoplasm of brain Squamous cell lung carcinoma Small cell lung carcinoma Malignant neoplasm of body of uterus Ovarian serous cystadenocarcinoma Uterine carcinosarcoma Squamous cell carcinoma of the head and neck Carcinoma of esophagus Lung adenocarcinoma Gastric adenocarcinoma Li-Fraumeni syndrome Familial cancer of breast Condition: not provided Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA16603021	rs_1057519989	5 SubmittersRCV000419449 RCV000418385 RCV000422508 RCV000427774 RCV000430162 RCV000427875 RCV000429067 RCV000438569 RCV000436692 RCV000437805 RCV000437360 RCV000439724 RCV000443459 RCV000538079 RCV001270273 RCV001567979 RCV002379286
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.731G>T (p.Gly244Val)	SNV Somatic	Chr17:7674232	Likely pathogenic	Hepatocellular carcinoma Neoplasm of brain Squamous cell lung carcinoma Glioblastoma Squamous cell carcinoma of the head and neck Neoplasm of the large intestine Gastric adenocarcinoma Malignant neoplasm of body of uterus Lung adenocarcinoma Uterine carcinosarcoma Small cell lung carcinoma Carcinoma of esophagus Ovarian serous cystadenocarcinoma Neoplasm of ovary Li-Fraumeni syndrome 1	Criteria Provided Single Submitter	CA16603023	rs_985033810	3 SubmittersRCV000420188 RCV000417831 RCV000423073 RCV000424338 RCV000428522 RCV000430897 RCV000433321 RCV000433805 RCV000440310 RCV000441607 RCV000434977 RCV000443964 RCV000439173 RCV000785338 RCV004022214
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.733G>C (p.Gly245Arg)	SNV Germline/somatic	Chr17:7674230	Conflicting classifications of pathogenicity	Squamous cell lung carcinoma Transitional cell carcinoma of the bladder Prostate adenocarcinoma Gastric adenocarcinoma Carcinoma of esophagus Breast neoplasm Neoplasm of the large intestine Squamous cell carcinoma of the head and neck Uterine carcinosarcoma Pancreatic adenocarcinoma Neoplasm of brain Ovarian serous cystadenocarcinoma Hepatocellular carcinoma Lung adenocarcinoma Brainstem glioma Glioblastoma Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA16603025	rs_28934575	4 SubmittersRCV000418277 RCV000420527 RCV000419444 RCV000424643 RCV000425790 RCV000426804 RCV000429713 RCV000432081 RCV000430767 RCV000431462 RCV000436041 RCV000437043 RCV000439119 RCV000441708 RCV000444043 RCV000444128 RCV000633351 RCV001026295 RCV004022215
NM_000546.6(TP53):c.796G>C (p.Gly266Arg)	SNV Germline/somatic	Chr17:7673824	Pathogenic	Glioblastoma Breast neoplasm Lung adenocarcinoma Neoplasm of the large intestine Malignant melanoma of skin Transitional cell carcinoma of the bladder Ovarian serous cystadenocarcinoma Carcinoma of esophagus Neoplasm of brain Squamous cell carcinoma of the skin Squamous cell lung carcinoma Uterine carcinosarcoma B-cell chronic lymphocytic leukemia Squamous cell carcinoma of the head and neck Pancreatic adenocarcinoma Malignant neoplasm of body of uterus Hepatocellular carcinoma Small cell lung carcinoma Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA16603026	rs_1057519990	4 SubmittersRCV000419323 RCV000420436 RCV000419956 RCV000421105 RCV000422610 RCV000426767 RCV000425613 RCV000426755 RCV000430688 RCV000431795 RCV000432420 RCV000431342 RCV000435860 RCV000437000 RCV000439845 RCV000439191 RCV000441587 RCV000444661 RCV000803659 RCV001027017 RCV002289526
NM_000546.6(TP53):c.536A>G (p.His179Arg)	SNV Germline/somatic	Chr17:7675076	Conflicting classifications of pathogenicity	Glioblastoma Hepatocellular carcinoma Squamous cell carcinoma of the head and neck Squamous cell lung carcinoma Pancreatic adenocarcinoma Neoplasm of brain Acute myeloid leukemia Gallbladder carcinoma Small cell lung carcinoma Neoplasm of the large intestine Breast neoplasm Uterine carcinosarcoma Lung adenocarcinoma Squamous cell carcinoma of the skin Malignant neoplasm of body of uterus Ovarian serous cystadenocarcinoma Carcinoma of esophagus Li-Fraumeni syndrome Gastric adenocarcinoma Malignant melanoma of skin Hereditary cancer-predisposing syndrome Neoplasm of ovary Condition: not provided TP53-related disorder Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA16603027	rs_1057519991	9 SubmittersRCV000420789 RCV000417695 RCV000417973 RCV000427175 RCV000433943 RCV000437826 RCV000433227 RCV000438042 RCV000443785 RCV000438407 RCV000439947 RCV000440632 RCV000421853 RCV000423292 RCV000426502 RCV000428674 RCV000429260 RCV000529132 RCV000432550 RCV000445268 RCV001023983 RCV000785555 RCV001591055 RCV003983035 RCV004022216
NM_000546.6(TP53):c.537T>G (p.His179Gln)	SNV Germline/somatic	Chr17:7675075	Pathogenic/Likely pathogenic	Acute myeloid leukemia Squamous cell carcinoma of the skin Gallbladder carcinoma Squamous cell lung carcinoma Malignant melanoma of skin Neoplasm of brain Gastric adenocarcinoma Glioblastoma Lung adenocarcinoma Malignant neoplasm of body of uterus Small cell lung carcinoma Pancreatic adenocarcinoma Ovarian serous cystadenocarcinoma Squamous cell carcinoma of the head and neck Neoplasm of the large intestine Hepatocellular carcinoma Uterine carcinosarcoma Breast neoplasm Carcinoma of esophagus Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Condition: not provided Li-Fraumeni syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA16603028	rs_876660821	7 SubmittersRCV000419975 RCV000420594 RCV000421045 RCV000421558 RCV000423857 RCV000425641 RCV000425896 RCV000428479 RCV000431364 RCV000429821 RCV000431267 RCV000436580 RCV000437195 RCV000436952 RCV000439103 RCV000441082 RCV000444017 RCV000444951 RCV000444976 RCV000815181 RCV001293868 RCV002264935 RCV002289527
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>A (p.His179Asn)	SNV Germline/somatic	Chr17:7675077	Conflicting classifications of pathogenicity	Uterine carcinosarcoma Malignant neoplasm of body of uterus Lung adenocarcinoma Small cell lung carcinoma Carcinoma of esophagus Squamous cell carcinoma of the skin Neoplasm of the large intestine Neoplasm of brain Acute myeloid leukemia Pancreatic adenocarcinoma Hepatocellular carcinoma Glioblastoma Squamous cell carcinoma of the head and neck Gallbladder carcinoma Ovarian serous cystadenocarcinoma Malignant melanoma of skin Gastric adenocarcinoma Breast neoplasm Squamous cell lung carcinoma Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Condition: not provided Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA16603030	rs_587780070	5 SubmittersRCV000419091 RCV000418067 RCV000419301 RCV000422109 RCV000422797 RCV000424599 RCV000424807 RCV000427824 RCV000429415 RCV000430449 RCV000433706 RCV000434154 RCV000433494 RCV000435925 RCV000434865 RCV000440508 RCV000440898 RCV000445154 RCV000444321 RCV000564826 RCV000695193 RCV001575036 RCV004022218
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.536A>C (p.His179Pro)	SNV Germline/somatic	Chr17:7675076	Conflicting classifications of pathogenicity	Malignant neoplasm of body of uterus Squamous cell lung carcinoma Pancreatic adenocarcinoma Uterine carcinosarcoma Glioblastoma Squamous cell carcinoma of the head and neck Small cell lung carcinoma Acute myeloid leukemia Neoplasm of brain Carcinoma of esophagus Squamous cell carcinoma of the skin Malignant melanoma of skin Breast neoplasm Gallbladder carcinoma Hepatocellular carcinoma Neoplasm of the large intestine Ovarian serous cystadenocarcinoma Lung adenocarcinoma Gastric adenocarcinoma Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome	Criteria Provided Conflicting Classifications	CA16603032	rs_1057519991	3 SubmittersRCV000420510 RCV000421224 RCV000421433 RCV000422328 RCV000426919 RCV000427172 RCV000427925 RCV000428125 RCV000431234 RCV000432547 RCV000433456 RCV000434884 RCV000437164 RCV000439058 RCV000438275 RCV000441519 RCV000444604 RCV000444694 RCV000443703 RCV001023982 RCV001861483
NM_000546.6(TP53):c.578A>C (p.His193Pro)	SNV Germline/somatic	Chr17:7674953	Pathogenic	Neoplasm of the large intestine Prostate adenocarcinoma Carcinoma of esophagus Small cell lung carcinoma Squamous cell lung carcinoma Papillary renal cell carcinoma, sporadic Gastric adenocarcinoma Acute myeloid leukemia Pancreatic adenocarcinoma Brainstem glioma Transitional cell carcinoma of the bladder Lung adenocarcinoma Squamous cell carcinoma of the head and neck B-cell chronic lymphocytic leukemia Neoplasm of brain Breast neoplasm Uterine carcinosarcoma Malignant neoplasm of body of uterus Hepatocellular carcinoma Ovarian serous cystadenocarcinoma Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome	Reviewed By Expert Panel	CA16603033	rs_786201838	5 SubmittersRCV000417520 RCV000418213 RCV000422374 RCV000422912 RCV000423516 RCV000424851 RCV000429577 RCV000427668 RCV000428197 RCV000428877 RCV000434205 RCV000433585 RCV000434933 RCV000435420 RCV000435566 RCV000440128 RCV000439568 RCV000442541 RCV000444985 RCV000445292 RCV000991151 RCV001525967
NM_000546.6(TP53):c.577C>G (p.His193Asp)	SNV Germline/somatic	Chr17:7674954	Conflicting classifications of pathogenicity	Uterine carcinosarcoma Gastric adenocarcinoma Neoplasm of the large intestine Squamous cell carcinoma of the head and neck Hepatocellular carcinoma Transitional cell carcinoma of the bladder Lung adenocarcinoma Brainstem glioma Carcinoma of esophagus Pancreatic adenocarcinoma Small cell lung carcinoma B-cell chronic lymphocytic leukemia Neoplasm of brain Breast neoplasm Acute myeloid leukemia Ovarian serous cystadenocarcinoma Malignant neoplasm of body of uterus Papillary renal cell carcinoma, sporadic Squamous cell lung carcinoma Prostate adenocarcinoma Li-Fraumeni syndrome Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA16603034	rs_876658468	3 SubmittersRCV000418378 RCV000419005 RCV000419924 RCV000421156 RCV000423999 RCV000425273 RCV000425552 RCV000425919 RCV000430614 RCV000431849 RCV000429967 RCV000432462 RCV000436250 RCV000434704 RCV000436620 RCV000438391 RCV000440641 RCV000441340 RCV000442175 RCV000444718 RCV003509527 RCV004022219
NM_000546.6(TP53):c.641A>G (p.His214Arg)	SNV Germline/somatic	Chr17:7674890	Likely pathogenic	Papillary renal cell carcinoma type 1 Squamous cell lung carcinoma Carcinoma of esophagus Gastric adenocarcinoma Pancreatic adenocarcinoma Hepatocellular carcinoma Ovarian serous cystadenocarcinoma Glioblastoma Transitional cell carcinoma of the bladder Neoplasm of the large intestine B-cell chronic lymphocytic leukemia Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Condition: not provided Li-Fraumeni syndrome 1	Reviewed By Expert Panel	CA16040595	rs_1057519992	8 SubmittersRCV000417658 RCV000418330 RCV000422504 RCV000427653 RCV000429028 RCV000428396 RCV000429736 RCV000439733 RCV000434864 RCV000435583 RCV000445232 RCV000477234 RCV000492372 RCV001584113 RCV004022220
NM_000546.6(TP53):c.583A>T (p.Ile195Phe)	SNV Germline/somatic	Chr17:7674948	Conflicting classifications of pathogenicity	Acute myeloid leukemia Neoplasm of brain Breast neoplasm Glioblastoma Squamous cell carcinoma of the head and neck Hepatocellular carcinoma Uterine carcinosarcoma Lung adenocarcinoma Pancreatic adenocarcinoma Carcinoma of esophagus Gastric adenocarcinoma Multiple myeloma Ovarian serous cystadenocarcinoma Squamous cell lung carcinoma B-cell chronic lymphocytic leukemia Neoplasm of the large intestine Malignant tumor of esophagus Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA16603037	rs_942158624	5 SubmittersRCV000417891 RCV000418677 RCV000420717 RCV000425266 RCV000423573 RCV000428137 RCV000426094 RCV000426791 RCV000430955 RCV000433525 RCV000433861 RCV000435534 RCV000436319 RCV000438337 RCV000441219 RCV000444892 RCV001270271 RCV001345722 RCV002356515 RCV003329275
NM_000546.6(TP53):c.584T>A (p.Ile195Asn)	SNV Germline/somatic	Chr17:7674947	Conflicting classifications of pathogenicity	Glioblastoma Acute myeloid leukemia Hepatocellular carcinoma Squamous cell lung carcinoma B-cell chronic lymphocytic leukemia Uterine carcinosarcoma Neoplasm of the large intestine Carcinoma of esophagus Gastric adenocarcinoma Ovarian serous cystadenocarcinoma Pancreatic adenocarcinoma Multiple myeloma Lung adenocarcinoma Breast neoplasm Neoplasm of brain Li-Fraumeni syndrome Squamous cell carcinoma of the head and neck Neoplasm of ovary Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA16603038	rs_760043106	5 SubmittersRCV000417492 RCV000419606 RCV000420311 RCV000422932 RCV000425779 RCV000427719 RCV000424894 RCV000430554 RCV000432578 RCV000435160 RCV000433212 RCV000437965 RCV000440578 RCV000440765 RCV000444669 RCV000692717 RCV000442006 RCV000785514 RCV001024599 RCV002289528
NM_000546.6(TP53):c.584T>G (p.Ile195Ser)	SNV Germline/somatic	Chr17:7674947	Conflicting classifications of pathogenicity	Glioblastoma Breast neoplasm B-cell chronic lymphocytic leukemia Uterine carcinosarcoma Neoplasm of brain Squamous cell lung carcinoma Hepatocellular carcinoma Acute myeloid leukemia Pancreatic adenocarcinoma Squamous cell carcinoma of the head and neck Ovarian serous cystadenocarcinoma Lung adenocarcinoma Gastric adenocarcinoma Carcinoma of esophagus Multiple myeloma Neoplasm of the large intestine Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA16603039	rs_760043106	3 SubmittersRCV000421805 RCV000421312 RCV000422467 RCV000427622 RCV000426991 RCV000429226 RCV000431547 RCV000429901 RCV000432185 RCV000437865 RCV000437242 RCV000439461 RCV000440129 RCV000442296 RCV000442729 RCV000445057 RCV001184465 RCV004022221
NM_000546.6(TP53):c.763A>T (p.Ile255Phe)	SNV Germline/somatic	Chr17:7674200	Conflicting classifications of pathogenicity	Neoplasm of brain Breast neoplasm Lung adenocarcinoma Carcinoma of esophagus Glioblastoma B-cell chronic lymphocytic leukemia Pancreatic adenocarcinoma Li-Fraumeni syndrome Neoplasm of ovary Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA16603041	rs_1057519995	5 SubmittersRCV000418615 RCV000428426 RCV000425759 RCV000436027 RCV000435616 RCV000436676 RCV000444896 RCV001301950 RCV000785451 RCV002392946 RCV004022222
NM_000546.6(TP53):c.396G>C (p.Lys132Asn)	SNV Germline/somatic	Chr17:7675216	Likely pathogenic	Lung adenocarcinoma Multiple myeloma Breast neoplasm Squamous cell carcinoma of the head and neck Neoplasm of the large intestine Uterine carcinosarcoma Squamous cell lung carcinoma Transitional cell carcinoma of the bladder Ovarian serous cystadenocarcinoma Pancreatic adenocarcinoma Adrenal cortex carcinoma Carcinoma of esophagus Glioblastoma Gastric adenocarcinoma Neoplasm of brain Neoplasm of uterine cervix Li-Fraumeni syndrome Li-Fraumeni syndrome 1	Reviewed By Expert Panel	CA16603044	rs_866775781	5 SubmittersRCV000419339 RCV000422634 RCV000421516 RCV000424592 RCV000427056 RCV000430184 RCV000430063 RCV000432417 RCV000434424 RCV000432219 RCV000437720 RCV000439586 RCV000439834 RCV000440843 RCV000442346 RCV000442734 RCV000709407 RCV004022223
NM_000546.6(TP53):c.395A>G (p.Lys132Arg)	SNV Germline/somatic	Chr17:7675217	Pathogenic/Likely pathogenic	Neoplasm of brain Transitional cell carcinoma of the bladder Multiple myeloma Adrenal cortex carcinoma Uterine carcinosarcoma Gastric adenocarcinoma Ovarian serous cystadenocarcinoma Breast neoplasm Squamous cell carcinoma of the head and neck Neoplasm of uterine cervix Carcinoma of esophagus Pancreatic adenocarcinoma Lung adenocarcinoma Glioblastoma Li-Fraumeni syndrome Neoplasm of the large intestine Squamous cell lung carcinoma Neoplasm of ovary Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA16603045	rs_1057519996	6 SubmittersRCV000419418 RCV000421674 RCV000423130 RCV000418417 RCV000424246 RCV000419619 RCV000429087 RCV000428190 RCV000426827 RCV000429251 RCV000434074 RCV000438897 RCV000436453 RCV000443007 RCV000471183 RCV000436660 RCV000441520 RCV000785521 RCV002356517 RCV004022224
NM_000546.6(TP53):c.394A>G (p.Lys132Glu)	SNV Germline/somatic	Chr17:7675218	Conflicting classifications of pathogenicity	Ovarian serous cystadenocarcinoma Squamous cell carcinoma of the head and neck Neoplasm of the large intestine Multiple myeloma Breast neoplasm Transitional cell carcinoma of the bladder Uterine carcinosarcoma Pancreatic adenocarcinoma Neoplasm of uterine cervix Neoplasm of brain Carcinoma of esophagus Adrenal cortex carcinoma Lung adenocarcinoma Squamous cell lung carcinoma Glioblastoma Gastric adenocarcinoma Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA002647	rs_747342068	7 SubmittersRCV000417803 RCV000417874 RCV000423644 RCV000425237 RCV000426379 RCV000430828 RCV000428580 RCV000431096 RCV000433855 RCV000436180 RCV000434893 RCV000435981 RCV000440656 RCV000441816 RCV000442199 RCV000444903 RCV000468362 RCV000562533 RCV001253548 RCV004017609
NM_000546.6(TP53):c.395A>C (p.Lys132Thr)	SNV Germline/somatic	Chr17:7675217	Conflicting classifications of pathogenicity	Uterine carcinosarcoma Glioblastoma Neoplasm of the large intestine Neoplasm of uterine cervix Transitional cell carcinoma of the bladder Multiple myeloma Breast neoplasm Carcinoma of esophagus Gastric adenocarcinoma Squamous cell lung carcinoma Pancreatic adenocarcinoma Lung adenocarcinoma Neoplasm of brain Adrenal cortex carcinoma Squamous cell carcinoma of the head and neck Ovarian serous cystadenocarcinoma Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome	Criteria Provided Conflicting Classifications	CA16603046	rs_1057519996	3 SubmittersRCV000420694 RCV000419605 RCV000423393 RCV000422403 RCV000424547 RCV000425633 RCV000427017 RCV000430299 RCV000433243 RCV000433123 RCV000435461 RCV000437675 RCV000437910 RCV000443063 RCV000442106 RCV000442467 RCV004022225 RCV003621532
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.332T>C (p.Leu111Pro)	SNV Germline/somatic	Chr17:7676037	Conflicting classifications of pathogenicity	Glioblastoma Carcinoma of esophagus Breast neoplasm B-cell chronic lymphocytic leukemia Hepatocellular carcinoma Malignant melanoma of skin Gastric adenocarcinoma Squamous cell lung carcinoma Li-Fraumeni syndrome Neoplasm of ovary Condition: not provided Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA16603049	rs_1057519997	5 SubmittersRCV000417617 RCV000425579 RCV000428739 RCV000425862 RCV000435274 RCV000435918 RCV000441916 RCV000442239 RCV000459042 RCV000785496 RCV000480700 RCV004022227
NM_000546.6(TP53):c.332T>A (p.Leu111Gln)	SNV Germline/somatic	Chr17:7676037	Conflicting classifications of pathogenicity	Squamous cell lung carcinoma Gastric adenocarcinoma Malignant melanoma of skin Hepatocellular carcinoma Breast neoplasm Carcinoma of esophagus Glioblastoma B-cell chronic lymphocytic leukemia Li-Fraumeni syndrome Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA16603051	rs_1057519997	3 SubmittersRCV000421931 RCV000424730 RCV000433045 RCV000433598 RCV000434970 RCV000442091 RCV000442462 RCV000443054 RCV001041362 RCV004022228
NM_000546.6(TP53):c.581T>G (p.Leu194Arg)	SNV Germline/somatic	Chr17:7674950	Conflicting classifications of pathogenicity	Neoplasm of uterine cervix Neoplasm of brain Ovarian serous cystadenocarcinoma Neoplasm of the large intestine Squamous cell carcinoma of the head and neck Breast neoplasm Hepatocellular carcinoma Lung adenocarcinoma Transitional cell carcinoma of the bladder Glioblastoma Pancreatic adenocarcinoma Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Colorectal cancer Neoplasm of ovary Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA16044097	rs_1057519998	6 SubmittersRCV000419180 RCV000420755 RCV000422070 RCV000430366 RCV000424933 RCV000431014 RCV000428827 RCV000436915 RCV000439886 RCV000437791 RCV000440633 RCV000535418 RCV000561306 RCV001270270 RCV000785551 RCV004022229
NM_000546.6(TP53):c.581T>A (p.Leu194His)	SNV Germline/somatic	Chr17:7674950	Conflicting classifications of pathogenicity	Ovarian serous cystadenocarcinoma Breast neoplasm Squamous cell carcinoma of the head and neck Hepatocellular carcinoma Glioblastoma Neoplasm of uterine cervix Neoplasm of the large intestine Neoplasm of brain Transitional cell carcinoma of the bladder Pancreatic adenocarcinoma Lung adenocarcinoma Hereditary cancer-predisposing syndrome Neoplasm of ovary Li-Fraumeni syndrome Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA16603052	rs_1057519998	5 SubmittersRCV000421586 RCV000426499 RCV000422209 RCV000427064 RCV000431615 RCV000431831 RCV000436747 RCV000434795 RCV000443531 RCV000442619 RCV000443173 RCV000565549 RCV000785543 RCV001376885 RCV004022230
NM_000546.6(TP53):c.710T>A (p.Met237Lys)	SNV Germline/somatic	Chr17:7674253	Pathogenic/Likely pathogenic	Squamous cell lung carcinoma Malignant neoplasm of body of uterus Squamous cell carcinoma of the head and neck Gastric adenocarcinoma Pancreatic adenocarcinoma Neoplasm of brain Lung adenocarcinoma Breast neoplasm Brainstem glioma Carcinoma of esophagus Ovarian serous cystadenocarcinoma Neoplasm of the large intestine Acute myeloid leukemia Li-Fraumeni syndrome Li-Fraumeni syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA001811	rs_765848205	4 SubmittersRCV000420529 RCV000422293 RCV000424589 RCV000427086 RCV000429783 RCV000432913 RCV000435309 RCV000436968 RCV000437739 RCV000442354 RCV000442966 RCV000443369 RCV002509381 RCV002524697 RCV004022231
NM_000546.6(TP53):c.716A>G (p.Asn239Ser)	SNV Germline/somatic	Chr17:7674247	Likely pathogenic	Lung adenocarcinoma Squamous cell carcinoma of the head and neck Ovarian serous cystadenocarcinoma Uterine carcinosarcoma Prostate adenocarcinoma Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Condition: not provided Neoplasm of the large intestine Papillary renal cell carcinoma type 1 Malignant neoplasm of body of uterus Breast neoplasm Gastric adenocarcinoma Hepatocellular carcinoma Li-Fraumeni syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA16603054	rs_1057519999	6 SubmittersRCV000427640 RCV000429581 RCV000436108 RCV000437044 RCV000442626 RCV000567507 RCV001851021 RCV002510885 RCV000418854 RCV000420011 RCV000426368 RCV000428926 RCV000438332 RCV000438482 RCV002289529
NM_000546.6(TP53):c.716A>C (p.Asn239Thr)	SNV Germline/somatic	Chr17:7674247	Conflicting classifications of pathogenicity	Papillary renal cell carcinoma type 1 Neoplasm of the large intestine Lung adenocarcinoma Squamous cell carcinoma of the head and neck Uterine carcinosarcoma Prostate adenocarcinoma Ovarian serous cystadenocarcinoma Gastric adenocarcinoma Breast neoplasm Malignant neoplasm of body of uterus Hepatocellular carcinoma Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA16603055	rs_1057519999	3 SubmittersRCV000420547 RCV000417510 RCV000418162 RCV000424579 RCV000425771 RCV000430564 RCV000436479 RCV000435297 RCV000431205 RCV000441278 RCV000442232 RCV000633336 RCV002374626
NM_000546.6(TP53):c.452C>G (p.Pro151Arg)	SNV Germline/somatic	Chr17:7675160	Pathogenic/Likely pathogenic	Pancreatic adenocarcinoma Transitional cell carcinoma of the bladder Neoplasm of the large intestine Squamous cell carcinoma of the head and neck Ovarian serous cystadenocarcinoma Gastric adenocarcinoma Hepatocellular carcinoma Multiple myeloma Neoplasm of brain Uterine carcinosarcoma Malignant melanoma of skin Malignant neoplasm of body of uterus Squamous cell lung carcinoma Lung adenocarcinoma Adenoid cystic carcinoma Carcinoma of esophagus Breast neoplasm Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA16603057	rs_1057520000	4 SubmittersRCV000418846 RCV000419325 RCV000419958 RCV000421526 RCV000424514 RCV000425600 RCV000423715 RCV000430235 RCV000431352 RCV000435893 RCV000434196 RCV000435439 RCV000436541 RCV000439174 RCV000441608 RCV000440477 RCV000443101 RCV000633382 RCV003168617 RCV004022232
NM_000546.6(TP53):c.451C>G (p.Pro151Ala)	SNV Germline/somatic	Chr17:7675161	Pathogenic	Breast neoplasm Uterine carcinosarcoma Neoplasm of the large intestine Neoplasm of brain Squamous cell carcinoma of the head and neck Multiple myeloma Hepatocellular carcinoma Squamous cell lung carcinoma Adenoid cystic carcinoma Pancreatic adenocarcinoma Malignant neoplasm of body of uterus Ovarian serous cystadenocarcinoma Malignant melanoma of skin Carcinoma of esophagus Transitional cell carcinoma of the bladder Lung adenocarcinoma Gastric adenocarcinoma Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA16603058	rs_28934874	3 SubmittersRCV000418125 RCV000419693 RCV000420971 RCV000420838 RCV000425371 RCV000428371 RCV000426064 RCV000426471 RCV000431059 RCV000432886 RCV000431789 RCV000436762 RCV000437396 RCV000438632 RCV000441351 RCV000443299 RCV000443386 RCV000459465 RCV002338981
NM_000546.6(TP53):c.832C>T (p.Pro278Ser)	SNV Germline/somatic	Chr17:7673788	Pathogenic/Likely pathogenic	Squamous cell carcinoma of the skin Squamous cell carcinoma of the head and neck Malignant melanoma of skin Lung adenocarcinoma Carcinoma of esophagus Malignant neoplasm of body of uterus Ovarian serous cystadenocarcinoma Neoplasm of brain Squamous cell lung carcinoma Multiple myeloma Breast neoplasm Neoplasm of the large intestine Condition: not provided Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Pancreatic adenocarcinoma Neoplasm of ovary Li-Fraumeni syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA16603059	rs_17849781	7 SubmittersRCV000421997 RCV000426679 RCV000427094 RCV000427714 RCV000432977 RCV000433428 RCV000437941 RCV000432228 RCV000442821 RCV000443572 RCV000435645 RCV000444293 RCV000522600 RCV000633344 RCV000562528 RCV000439725 RCV000785527 RCV004022233
NM_000546.6(TP53):c.832C>A (p.Pro278Thr)	SNV Germline/somatic	Chr17:7673788	Pathogenic/Likely pathogenic	Lung adenocarcinoma Malignant neoplasm of body of uterus Multiple myeloma Breast neoplasm Ovarian serous cystadenocarcinoma Squamous cell lung carcinoma Malignant melanoma of skin Neoplasm of brain Carcinoma of esophagus Neoplasm of the large intestine Pancreatic adenocarcinoma Squamous cell carcinoma of the head and neck Poly (ADP-Ribose) polymerase inhibitor response Neoplasm of ovary Squamous cell carcinoma of the skin Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Li-Fraumeni syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA16603060	rs_17849781	6 SubmittersRCV000419944 RCV000418460 RCV000429755 RCV000425201 RCV000425878 RCV000429149 RCV000433992 RCV000436548 RCV000437214 RCV000435065 RCV000442861 RCV000440415 RCV000626445 RCV000785511 RCV000442983 RCV002429348 RCV002524698 RCV004022234
NM_000546.6(TP53):c.833C>G (p.Pro278Arg)	SNV Germline/somatic	Chr17:7673787	Conflicting classifications of pathogenicity	Neoplasm of the large intestine Squamous cell lung carcinoma Carcinoma of esophagus Malignant neoplasm of body of uterus Lung adenocarcinoma Ovarian serous cystadenocarcinoma Squamous cell carcinoma of the skin Pancreatic adenocarcinoma Malignant melanoma of skin Neoplasm of brain Multiple myeloma Squamous cell carcinoma of the head and neck Breast neoplasm Hereditary cancer-predisposing syndrome Condition: not provided Neoplasm of ovary Li-Fraumeni syndrome Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA16603061	rs_876659802	7 SubmittersRCV000420956 RCV000424036 RCV000423863 RCV000431661 RCV000431945 RCV000425930 RCV000426582 RCV000431305 RCV000441126 RCV000432244 RCV000444083 RCV000443337 RCV000443990 RCV000572417 RCV000681956 RCV000785498 RCV000797363 RCV002289530
NM_000546.6(TP53):c.832C>G (p.Pro278Ala)	SNV Germline/somatic	Chr17:7673788	Conflicting classifications of pathogenicity	Squamous cell carcinoma of the skin Pancreatic adenocarcinoma Neoplasm of brain Squamous cell lung carcinoma Carcinoma of esophagus Squamous cell carcinoma of the head and neck Malignant melanoma of skin Ovarian serous cystadenocarcinoma Multiple myeloma Malignant neoplasm of body of uterus Neoplasm of the large intestine Lung adenocarcinoma Hereditary cancer-predisposing syndrome Breast neoplasm Li-Fraumeni syndrome Neoplasm of ovary Condition: not provided Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA16603062	rs_17849781	6 SubmittersRCV000419216 RCV000417926 RCV000420739 RCV000422309 RCV000426460 RCV000427997 RCV000430547 RCV000433017 RCV000437350 RCV000438674 RCV000439356 RCV000437992 RCV000567850 RCV000441270 RCV000688854 RCV000785477 RCV001584114 RCV004022235
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.523C>G (p.Arg175Gly)	SNV Germline/somatic	Chr17:7675089	Pathogenic/Likely pathogenic	Malignant neoplasm of body of uterus Neoplasm of the large intestine Brainstem glioma Hepatocellular carcinoma Ovarian serous cystadenocarcinoma Nasopharyngeal neoplasm Transitional cell carcinoma of the bladder Carcinoma of esophagus Breast neoplasm Pancreatic adenocarcinoma Glioblastoma Neoplasm of brain Lung adenocarcinoma Squamous cell lung carcinoma Squamous cell carcinoma of the head and neck Medulloblastoma Prostate adenocarcinoma Malignant melanoma of skin Gastric adenocarcinoma B-cell chronic lymphocytic leukemia Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Neoplasm of ovary Uterine carcinosarcoma Gallbladder carcinoma Condition: not provided Li-Fraumeni syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA16603066	rs_138729528	7 SubmittersRCV000420706 RCV000419625 RCV000421238 RCV000421436 RCV000426938 RCV000424235 RCV000420923 RCV000425355 RCV000430584 RCV000428548 RCV000432831 RCV000436759 RCV000430740 RCV000430935 RCV000436078 RCV000438570 RCV000437498 RCV000441260 RCV000432105 RCV000444111 RCV000459914 RCV000573315 RCV000785486 RCV000443278 RCV000444080 RCV001584115 RCV002289532
NM_000546.6(TP53):c.638G>T (p.Arg213Leu)	SNV Germline/somatic	Chr17:7674893	Conflicting classifications of pathogenicity	Adrenal cortex carcinoma Malignant melanoma of skin Uterine carcinosarcoma Neoplasm of brain Neoplasm of the large intestine Hepatocellular carcinoma Papillary renal cell carcinoma type 1 Breast neoplasm Carcinoma of esophagus Glioblastoma Pancreatic adenocarcinoma Squamous cell carcinoma of the head and neck Transitional cell carcinoma of the bladder Squamous cell lung carcinoma Gastric adenocarcinoma Squamous cell carcinoma of the skin Adenoid cystic carcinoma Prostate adenocarcinoma Lung adenocarcinoma Nasopharyngeal neoplasm Ovarian serous cystadenocarcinoma Malignant neoplasm of body of uterus Li-Fraumeni syndrome Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA16603067	rs_587778720	3 SubmittersRCV000417467 RCV000418814 RCV000418608 RCV000421737 RCV000422458 RCV000422684 RCV000428488 RCV000428624 RCV000428841 RCV000427240 RCV000427500 RCV000433789 RCV000432738 RCV000435387 RCV000435132 RCV000437481 RCV000438469 RCV000439587 RCV000439979 RCV000443648 RCV000444469 RCV000445195 RCV001371092 RCV004022236
NM_000546.6(TP53):c.637C>G (p.Arg213Gly)	SNV Germline/somatic	Chr17:7674894	Conflicting classifications of pathogenicity	Hepatocellular carcinoma Malignant neoplasm of body of uterus Glioblastoma Squamous cell carcinoma of the head and neck Malignant melanoma of skin Neoplasm of the large intestine Carcinoma of esophagus Adenoid cystic carcinoma Pancreatic adenocarcinoma Adrenal cortex carcinoma Papillary renal cell carcinoma type 1 Ovarian serous cystadenocarcinoma Neoplasm of brain Gastric adenocarcinoma Squamous cell carcinoma of the skin Transitional cell carcinoma of the bladder Uterine carcinosarcoma Nasopharyngeal neoplasm Squamous cell lung carcinoma Prostate adenocarcinoma Lung adenocarcinoma Breast neoplasm Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA16603068	rs_397516436	4 SubmittersRCV000417479 RCV000419627 RCV000420272 RCV000421648 RCV000421524 RCV000425630 RCV000424254 RCV000426157 RCV000426799 RCV000428823 RCV000428146 RCV000431481 RCV000430949 RCV000432206 RCV000432863 RCV000436862 RCV000438186 RCV000437472 RCV000438834 RCV000438677 RCV000444193 RCV000444980 RCV002356518 RCV002524699 RCV004022237
NM_000546.6(TP53):c.742C>G (p.Arg248Gly)	SNV Germline/somatic	Chr17:7674221	Pathogenic/Likely pathogenic	Uterine carcinosarcoma Pancreatic adenocarcinoma Breast neoplasm Neoplasm of the large intestine Squamous cell lung carcinoma Ovarian serous cystadenocarcinoma Multiple myeloma B-cell chronic lymphocytic leukemia Brainstem glioma Malignant melanoma of skin Squamous cell carcinoma of the head and neck Transitional cell carcinoma of the bladder Myelodysplastic syndrome Malignant neoplasm of body of uterus Small cell lung carcinoma Carcinoma of esophagus Acute myeloid leukemia Neoplasm of brain Prostate adenocarcinoma Hepatocellular carcinoma Gastric adenocarcinoma Medulloblastoma Glioblastoma Lung adenocarcinoma Squamous cell carcinoma of the skin Li-Fraumeni syndrome Carcinoma of colon Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA16603069	rs_121912651	5 SubmittersRCV000417693 RCV000418362 RCV000420498 RCV000422668 RCV000423297 RCV000425782 RCV000424776 RCV000425100 RCV000425394 RCV000427544 RCV000427948 RCV000430735 RCV000432931 RCV000432207 RCV000433611 RCV000435353 RCV000435050 RCV000436038 RCV000437882 RCV000441010 RCV000441711 RCV000440334 RCV000444356 RCV000444519 RCV000444427 RCV000633396 RCV000626118 RCV001026425 RCV004022238
NM_000546.6(TP53):c.746G>T (p.Arg249Met)	SNV Germline/somatic	Chr17:7674217	Conflicting classifications of pathogenicity	Squamous cell carcinoma of the skin Gastric adenocarcinoma Hepatocellular carcinoma Small cell lung carcinoma Lung adenocarcinoma Malignant neoplasm of body of uterus Glioblastoma Ovarian serous cystadenocarcinoma Medulloblastoma Prostate adenocarcinoma Squamous cell carcinoma of the head and neck Carcinoma of esophagus Squamous cell lung carcinoma Uterine carcinosarcoma Pancreatic adenocarcinoma Li-Fraumeni syndrome Neoplasm of ovary Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA16603070	rs_587782329	5 SubmittersRCV000419533 RCV000420945 RCV000421561 RCV000420239 RCV000422393 RCV000430463 RCV000434651 RCV000428988 RCV000429799 RCV000439247 RCV000437240 RCV000431805 RCV000445070 RCV000445103 RCV000440059 RCV000690948 RCV000782360 RCV004022239
NM_000546.6(TP53):c.745A>G (p.Arg249Gly)	SNV Germline/somatic	Chr17:7674218	Conflicting classifications of pathogenicity	Gastric adenocarcinoma Prostate adenocarcinoma Carcinoma of esophagus Lung adenocarcinoma Uterine carcinosarcoma Hepatocellular carcinoma Glioblastoma Squamous cell lung carcinoma Squamous cell carcinoma of the head and neck Small cell lung carcinoma Pancreatic adenocarcinoma Malignant neoplasm of body of uterus Squamous cell carcinoma of the skin Ovarian serous cystadenocarcinoma Medulloblastoma Condition: not provided Neoplasm of ovary Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA16603071	rs_587782082	7 SubmittersRCV000419254 RCV000418381 RCV000423993 RCV000426656 RCV000421216 RCV000427933 RCV000427287 RCV000429532 RCV000428633 RCV000436273 RCV000438863 RCV000436898 RCV000441694 RCV000444068 RCV000437517 RCV000581522 RCV000785305 RCV001026460 RCV000467567 RCV002289533
NM_000546.6(TP53):c.818G>T (p.Arg273Leu)	SNV Germline/somatic	Chr17:7673802	Pathogenic	Pancreatic adenocarcinoma Neoplasm of brain Neoplasm of the large intestine Adrenal cortex carcinoma Squamous cell carcinoma of the head and neck Medulloblastoma B-cell chronic lymphocytic leukemia Brainstem glioma Lung adenocarcinoma Malignant neoplasm of body of uterus Acute myeloid leukemia Malignant melanoma of skin Multiple myeloma Prostate adenocarcinoma Carcinoma of esophagus Gastric adenocarcinoma Small cell lung carcinoma Squamous cell lung carcinoma Breast neoplasm Uterine carcinosarcoma Hepatocellular carcinoma Ovarian serous cystadenocarcinoma Hereditary cancer-predisposing syndrome Metastatic pancreatic neuroendocrine tumours Li-Fraumeni syndrome Neoplasm of ovary Transitional cell carcinoma of the bladder Glioblastoma Condition: not provided Li-Fraumeni syndrome 1 12 conditions	Criteria Provided Multiple Submitters No Conflicts	CA001530	rs_28934576	9 SubmittersRCV000418536 RCV000418738 RCV000423633 RCV000426132 RCV000421259 RCV000425890 RCV000423490 RCV000428692 RCV000423981 RCV000429444 RCV000433315 RCV000427314 RCV000436818 RCV000431067 RCV000434296 RCV000437048 RCV000435767 RCV000442241 RCV000438507 RCV000441792 RCV000434695 RCV000444109 RCV000568814 RCV000515526 RCV000822080 RCV000785524 RCV000444782 RCV000444989 RCV001539823 RCV002289534 RCV002502455
NM_000546.6(TP53):c.817C>A (p.Arg273Ser)	SNV Germline/somatic	Chr17:7673803	Pathogenic	Lung adenocarcinoma Glioblastoma Ovarian serous cystadenocarcinoma B-cell chronic lymphocytic leukemia Malignant neoplasm of body of uterus Hepatocellular carcinoma Neoplasm of brain Medulloblastoma Malignant melanoma of skin Squamous cell carcinoma of the head and neck Brainstem glioma Small cell lung carcinoma Carcinoma of esophagus Adrenal cortex carcinoma Multiple myeloma Prostate adenocarcinoma Pancreatic adenocarcinoma Squamous cell lung carcinoma Neoplasm of the large intestine Gastric adenocarcinoma Uterine carcinosarcoma Acute myeloid leukemia Breast neoplasm Transitional cell carcinoma of the bladder Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Li-Fraumeni syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA001542	rs_121913343	5 SubmittersRCV000418085 RCV000420280 RCV000420482 RCV000422550 RCV000422795 RCV000424918 RCV000425669 RCV000427515 RCV000427884 RCV000431180 RCV000430119 RCV000431455 RCV000432372 RCV000435074 RCV000433489 RCV000435480 RCV000436543 RCV000438218 RCV000439774 RCV000440794 RCV000440997 RCV000444595 RCV000445287 RCV000445314 RCV000561782 RCV000698744 RCV002289535
NM_000546.6(TP53):c.839G>A (p.Arg280Lys)	SNV Germline/somatic	Chr17:7673781	Conflicting classifications of pathogenicity	Malignant melanoma of skin Hepatocellular carcinoma Squamous cell carcinoma of the head and neck Squamous cell lung carcinoma Lung adenocarcinoma Neoplasm of uterine cervix Ovarian serous cystadenocarcinoma Breast neoplasm Squamous cell carcinoma of the skin Nasopharyngeal neoplasm Uterine carcinosarcoma Gastric adenocarcinoma Carcinoma of esophagus Acute myeloid leukemia Neoplasm of brain Transitional cell carcinoma of the bladder Small cell lung carcinoma Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome	Criteria Provided Conflicting Classifications	CA16603072	rs_121912660	4 SubmittersRCV000418023 RCV000425366 RCV000423448 RCV000423739 RCV000423933 RCV000428952 RCV000428734 RCV000431165 RCV000433592 RCV000433708 RCV000436148 RCV000436528 RCV000438568 RCV000440980 RCV000442077 RCV000444685 RCV000444610 RCV000492483 RCV000633356
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.845G>C (p.Arg282Pro)	SNV Germline/somatic	Chr17:7673775	Pathogenic/Likely pathogenic	Neoplasm of brain Non-Hodgkin lymphoma Squamous cell carcinoma of the skin Gastric adenocarcinoma Transitional cell carcinoma of the bladder Lung adenocarcinoma Ovarian serous cystadenocarcinoma Malignant melanoma of skin Papillary renal cell carcinoma type 1 Glioblastoma Prostate adenocarcinoma Hepatocellular carcinoma Pancreatic adenocarcinoma Squamous cell lung carcinoma Malignant neoplasm of body of uterus Carcinoma of esophagus Neoplasm of the large intestine Breast neoplasm Squamous cell carcinoma of the head and neck Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Li-Fraumeni syndrome 1 12 conditions	Criteria Provided Multiple Submitters No Conflicts	CA16603074	rs_730882008	8 SubmittersRCV000417824 RCV000417919 RCV000419006 RCV000424978 RCV000423005 RCV000426071 RCV000423789 RCV000425389 RCV000427957 RCV000428608 RCV000432620 RCV000434763 RCV000435036 RCV000433722 RCV000438637 RCV000440221 RCV000441023 RCV000441861 RCV000442220 RCV000492764 RCV000709402 RCV002289536 RCV002502456
NM_000546.6(TP53):c.644G>T (p.Ser215Ile)	SNV Germline/somatic	Chr17:7674887	Conflicting classifications of pathogenicity	Hepatocellular carcinoma Small cell lung carcinoma Lung adenocarcinoma Pancreatic adenocarcinoma Breast neoplasm Acute myeloid leukemia Carcinoma of esophagus Gastric adenocarcinoma Ovarian serous cystadenocarcinoma Neoplasm of ovary Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome	Criteria Provided Conflicting Classifications	CA16603075	rs_587782177	4 SubmittersRCV000420881 RCV000420217 RCV000423272 RCV000430889 RCV000435696 RCV000429840 RCV000441630 RCV000433950 RCV000440493 RCV000785347 RCV001025280 RCV003509529
NM_000546.6(TP53):c.645T>G (p.Ser215Arg)	SNV Germline/somatic	Chr17:7674886	Conflicting classifications of pathogenicity	Breast neoplasm Gastric adenocarcinoma Ovarian serous cystadenocarcinoma Pancreatic adenocarcinoma Small cell lung carcinoma Lung adenocarcinoma Acute myeloid leukemia Li-Fraumeni syndrome Hepatocellular carcinoma Carcinoma of esophagus Li-Fraumeni syndrome 1 Neoplasm of ovary Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA16603076	rs_1057520001	6 SubmittersRCV000422178 RCV000421044 RCV000425174 RCV000431745 RCV000432876 RCV000442691 RCV000442610 RCV000465501 RCV000437603 RCV000439391 RCV000662560 RCV000785463 RCV002289537
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.722C>A (p.Ser241Tyr)	SNV Germline/somatic	Chr17:7674241	Pathogenic/Likely pathogenic	Carcinoma of esophagus Glioblastoma Uterine carcinosarcoma Malignant neoplasm of body of uterus Pancreatic adenocarcinoma Squamous cell carcinoma of the skin Neoplasm of brain Squamous cell carcinoma of the head and neck Malignant melanoma of skin Lung adenocarcinoma Ovarian serous cystadenocarcinoma Breast neoplasm Papillary renal cell carcinoma, sporadic Non-Hodgkin lymphoma Papillary renal cell carcinoma type 1 Neoplasm of the large intestine Brainstem glioma Gallbladder carcinoma Transitional cell carcinoma of the bladder Neoplasm of ovary Li-Fraumeni syndrome Condition: not provided Li-Fraumeni syndrome 1 Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA16603078	rs_28934573	6 SubmittersRCV000418625 RCV000419713 RCV000420813 RCV000421131 RCV000426095 RCV000424972 RCV000430014 RCV000423572 RCV000425344 RCV000430987 RCV000432092 RCV000436296 RCV000437363 RCV000431755 RCV000441902 RCV000438864 RCV000440216 RCV000441261 RCV000441922 RCV000785454 RCV001053974 RCV001576591 RCV002289538 RCV002289539
NM_000546.6(TP53):c.721T>G (p.Ser241Ala)	SNV Germline/somatic	Chr17:7674242	Conflicting classifications of pathogenicity	Carcinoma of esophagus Neoplasm of the large intestine Neoplasm of brain Uterine carcinosarcoma Gallbladder carcinoma Non-Hodgkin lymphoma Malignant melanoma of skin Brainstem glioma Malignant neoplasm of body of uterus Breast neoplasm Glioblastoma Papillary renal cell carcinoma type 1 Squamous cell carcinoma of the head and neck Ovarian serous cystadenocarcinoma Pancreatic adenocarcinoma Papillary renal cell carcinoma, sporadic Squamous cell carcinoma of the skin Lung adenocarcinoma Transitional cell carcinoma of the bladder Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA16603080	rs_1057520002	5 SubmittersRCV000418366 RCV000419457 RCV000422775 RCV000420564 RCV000423557 RCV000425684 RCV000424609 RCV000426866 RCV000429686 RCV000432077 RCV000434790 RCV000434877 RCV000437125 RCV000435947 RCV000440449 RCV000441961 RCV000441702 RCV000441931 RCV000443160 RCV001045859 RCV002374627 RCV004022242
NM_000546.6(TP53):c.373A>C (p.Thr125Pro)	SNV Germline/somatic	Chr17:7675996	Conflicting classifications of pathogenicity	Squamous cell carcinoma of the head and neck Neoplasm of the large intestine Transitional cell carcinoma of the bladder Malignant melanoma of skin Breast neoplasm Glioblastoma Brainstem glioma Gastric adenocarcinoma Small cell lung carcinoma Neoplasm of brain Acute myeloid leukemia Hepatocellular carcinoma Squamous cell carcinoma of the skin Ovarian serous cystadenocarcinoma Papillary renal cell carcinoma type 1 Lung adenocarcinoma Adrenal cortex carcinoma Squamous cell lung carcinoma Carcinoma of esophagus Pancreatic adenocarcinoma Li-Fraumeni syndrome Li-Fraumeni syndrome 1 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA16603081	rs_1057520003	4 SubmittersRCV000418295 RCV000417666 RCV000422630 RCV000423200 RCV000425049 RCV000426486 RCV000428307 RCV000427158 RCV000429194 RCV000432449 RCV000433906 RCV000434887 RCV000436394 RCV000434566 RCV000439620 RCV000437835 RCV000439813 RCV000442101 RCV000442185 RCV000443332 RCV001041773 RCV004022243 RCV004022244
NM_000546.6(TP53):c.374C>G (p.Thr125Arg)	SNV Germline/somatic	Chr17:7675995	Pathogenic/Likely pathogenic	Papillary renal cell carcinoma type 1 Squamous cell carcinoma of the skin Acute myeloid leukemia Carcinoma of esophagus Squamous cell lung carcinoma Neoplasm of the large intestine Lung adenocarcinoma Transitional cell carcinoma of the bladder Gastric adenocarcinoma Glioblastoma Breast neoplasm Pancreatic adenocarcinoma Adrenal cortex carcinoma Small cell lung carcinoma Hepatocellular carcinoma Neoplasm of brain Li-Fraumeni syndrome Brainstem glioma Malignant melanoma of skin Squamous cell carcinoma of the head and neck Ovarian serous cystadenocarcinoma Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA16044089	rs_786201057	6 SubmittersRCV000423812 RCV000424026 RCV000429727 RCV000432131 RCV000434737 RCV000423368 RCV000442028 RCV000440628 RCV000430321 RCV000419385 RCV000419630 RCV000436286 RCV000436638 RCV000424710 RCV000425385 RCV000428977 RCV000524926 RCV000442755 RCV000436088 RCV000440402 RCV000442833 RCV000492090 RCV002289540
NM_000546.6(TP53):c.517G>T (p.Val173Leu)	SNV Germline/somatic	Chr17:7675095	Pathogenic/Likely pathogenic	Breast neoplasm Malignant melanoma of skin Lung adenocarcinoma Carcinoma of esophagus Ovarian serous cystadenocarcinoma Brainstem glioma Malignant neoplasm of body of uterus Pancreatic adenocarcinoma Squamous cell carcinoma of the head and neck Neoplasm of the large intestine Hepatocellular carcinoma Neoplasm of brain Gastric adenocarcinoma Adrenal cortex carcinoma Small cell lung carcinoma Li-Fraumeni syndrome Neoplasm of ovary Condition: not provided Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA16603082	rs_876660754	7 SubmittersRCV000423312 RCV000421780 RCV000417683 RCV000427345 RCV000428483 RCV000427493 RCV000429213 RCV000432458 RCV000434691 RCV000438383 RCV000442009 RCV000433209 RCV000440549 RCV000443390 RCV000439916 RCV000694763 RCV000785539 RCV001821147 RCV002289542 RCV002289541
NM_000546.6(TP53):c.518T>A (p.Val173Glu)	SNV Germline/somatic	Chr17:7675094	Conflicting classifications of pathogenicity	Small cell lung carcinoma Adrenal cortex carcinoma Hepatocellular carcinoma Breast neoplasm Malignant neoplasm of body of uterus Neoplasm of brain Pancreatic adenocarcinoma Malignant melanoma of skin Ovarian serous cystadenocarcinoma Gastric adenocarcinoma Carcinoma of esophagus Squamous cell carcinoma of the head and neck Neoplasm of the large intestine Lung adenocarcinoma Brainstem glioma Hereditary cancer-predisposing syndrome not specified Li-Fraumeni syndrome Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA16603083	rs_1057519747	5 SubmittersRCV000421130 RCV000419351 RCV000420346 RCV000425882 RCV000425654 RCV000430605 RCV000430481 RCV000431387 RCV000437016 RCV000435883 RCV000437139 RCV000441782 RCV000442089 RCV000443047 RCV000443122 RCV000574130 RCV000582350 RCV002524700 RCV004022245
NM_000546.6(TP53):c.646G>T (p.Val216Leu)	SNV Germline/somatic	Chr17:7674885	Conflicting classifications of pathogenicity	Ovarian serous cystadenocarcinoma Neoplasm of brain Carcinoma of esophagus Glioblastoma Squamous cell carcinoma of the skin Lung adenocarcinoma Breast neoplasm Squamous cell carcinoma of the head and neck Uterine carcinosarcoma Squamous cell lung carcinoma Neoplasm of ovary Pancreatic adenocarcinoma Li-Fraumeni syndrome Condition: not provided Li-Fraumeni syndrome 1 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA16603084	rs_730882025	6 SubmittersRCV000417716 RCV000420083 RCV000422099 RCV000426649 RCV000428855 RCV000427972 RCV000431215 RCV000439081 RCV000437749 RCV000437980 RCV000785309 RCV000442710 RCV001042741 RCV003321589 RCV004022246 RCV002365461
NM_000546.6(TP53):c.815T>A (p.Val272Glu)	SNV Germline/somatic	Chr17:7673805	Conflicting classifications of pathogenicity	Squamous cell carcinoma of the head and neck Lung adenocarcinoma Neoplasm of the large intestine Malignant neoplasm of body of uterus Squamous cell carcinoma of the skin Medulloblastoma Gastric adenocarcinoma Li-Fraumeni syndrome Pancreatic adenocarcinoma Li-Fraumeni syndrome 1 Ovarian serous cystadenocarcinoma Transitional cell carcinoma of the bladder Multiple myeloma Papillary renal cell carcinoma type 1 Breast neoplasm	Criteria Provided Conflicting Classifications	CA16603087	rs_876660333	3 SubmittersRCV000424786 RCV000429369 RCV000434183 RCV000438331 RCV000440060 RCV000442953 RCV000444340 RCV001228585 RCV000421804 RCV004022247 RCV000422825 RCV000423493 RCV000427639 RCV000433521 RCV000442761
NM_000546.6(TP53):c.820G>T (p.Val274Phe)	SNV Germline/somatic	Chr17:7673800	Conflicting classifications of pathogenicity	Neoplasm of the large intestine Pancreatic adenocarcinoma Gastric adenocarcinoma Lung adenocarcinoma Malignant melanoma of skin Prostate adenocarcinoma Small cell lung carcinoma Lip and oral cavity carcinoma Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Ovarian serous cystadenocarcinoma Li-Fraumeni syndrome 1 Hepatocellular carcinoma Neoplasm of brain Breast neoplasm	Criteria Provided Conflicting Classifications	CA16603088	rs_1057520005	5 SubmittersRCV000418736 RCV000419355 RCV000430114 RCV000428932 RCV000429450 RCV000435470 RCV000436116 RCV001255677 RCV001344689 RCV002429349 RCV000418237 RCV004022248 RCV000423526 RCV000440120 RCV000440773
NM_000546.6(TP53):c.821T>A (p.Val274Asp)	SNV Germline/somatic	Chr17:7673799	Conflicting classifications of pathogenicity	Malignant melanoma of skin Neoplasm of brain Small cell lung carcinoma Gastric adenocarcinoma Neoplasm of the large intestine Hepatocellular carcinoma Prostate adenocarcinoma Ovarian serous cystadenocarcinoma Pancreatic adenocarcinoma Lung adenocarcinoma Breast neoplasm Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA16603089	rs_1057520006	3 SubmittersRCV000419239 RCV000424200 RCV000425563 RCV000424885 RCV000431443 RCV000432106 RCV000434236 RCV000436477 RCV000443884 RCV000441480 RCV000443016 RCV001229449 RCV003168618
NM_000546.6(TP53):c.821T>G (p.Val274Gly)	SNV Germline/somatic	Chr17:7673799	Conflicting classifications of pathogenicity	Hepatocellular carcinoma Pancreatic adenocarcinoma Lung adenocarcinoma Prostate adenocarcinoma Neoplasm of the large intestine Ovarian serous cystadenocarcinoma Malignant melanoma of skin Neoplasm of brain Gastric adenocarcinoma Breast neoplasm Hereditary cancer-predisposing syndrome Lip and oral cavity carcinoma Li-Fraumeni syndrome 1 Small cell lung carcinoma Li-Fraumeni syndrome	Criteria Provided Conflicting Classifications	CA16603090	rs_1057520006	5 SubmittersRCV000419865 RCV000421122 RCV000420544 RCV000426446 RCV000431168 RCV000431803 RCV000430539 RCV000437117 RCV000439046 RCV000441279 RCV000492506 RCV001255678 RCV004022249 RCV000438367 RCV000692432
NM_000546.6(TP53):c.821T>C (p.Val274Ala)	SNV Germline/somatic	Chr17:7673799	Conflicting classifications of pathogenicity	Malignant melanoma of skin Ovarian serous cystadenocarcinoma Hepatocellular carcinoma Neoplasm of the large intestine Prostate adenocarcinoma Lung adenocarcinoma Neoplasm of brain Small cell lung carcinoma Gastric adenocarcinoma Pancreatic adenocarcinoma Breast neoplasm Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA16603091	rs_1057520006	3 SubmittersRCV000420150 RCV000421817 RCV000426067 RCV000427353 RCV000426772 RCV000432482 RCV000433292 RCV000437438 RCV000438006 RCV000443517 RCV000444136 RCV001056029 RCV002429350
NM_000546.6(TP53):c.487T>A (p.Tyr163Asn)	SNV Germline/somatic	Chr17:7675125	Conflicting classifications of pathogenicity	Hepatocellular carcinoma Uterine carcinosarcoma Neoplasm of the large intestine Ovarian serous cystadenocarcinoma Lung adenocarcinoma Breast neoplasm Squamous cell carcinoma of the head and neck Carcinoma of esophagus Squamous cell lung carcinoma Brainstem glioma Pancreatic adenocarcinoma Neoplasm of brain Malignant melanoma of skin Li-Fraumeni syndrome Small cell lung carcinoma Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA16603093	rs_786203436	4 SubmittersRCV000421406 RCV000427021 RCV000424159 RCV000426404 RCV000437297 RCV000439053 RCV000443298 RCV000428833 RCV000439742 RCV000443877 RCV000422095 RCV000434430 RCV000431660 RCV000633347 RCV000444003 RCV002338982 RCV004022250
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.614A>G (p.Tyr205Cys)	SNV Germline/somatic	Chr17:7674917	Pathogenic	Hepatocellular carcinoma Papillary renal cell carcinoma type 1 Ovarian serous cystadenocarcinoma Squamous cell carcinoma of the head and neck Non-Hodgkin lymphoma Uterine carcinosarcoma Glioblastoma Malignant neoplasm of body of uterus Breast neoplasm Squamous cell lung carcinoma Pancreatic adenocarcinoma Neoplasm of the large intestine Multiple myeloma Lung adenocarcinoma Carcinoma of esophagus Neoplasm of brain Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA16603095	rs_1057520007	4 SubmittersRCV000422077 RCV000422980 RCV000427034 RCV000424901 RCV000427749 RCV000430410 RCV000431652 RCV000433236 RCV000432320 RCV000437968 RCV000437254 RCV000439980 RCV000440667 RCV000442863 RCV000443687 RCV000443828 RCV000704312 RCV002356520 RCV004022251
NM_000546.6(TP53):c.613T>A (p.Tyr205Asn)	SNV Germline/somatic	Chr17:7674918	Conflicting classifications of pathogenicity	Carcinoma of esophagus Papillary renal cell carcinoma type 1 Breast neoplasm Squamous cell carcinoma of the head and neck Hepatocellular carcinoma Neoplasm of brain Ovarian serous cystadenocarcinoma Neoplasm of the large intestine Multiple myeloma Malignant neoplasm of body of uterus Glioblastoma Non-Hodgkin lymphoma Pancreatic adenocarcinoma Uterine carcinosarcoma Lung adenocarcinoma Squamous cell lung carcinoma Li-Fraumeni syndrome 1 Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome	Criteria Provided Conflicting Classifications	CA16603098	rs_1057520008	6 SubmittersRCV000417461 RCV000419577 RCV000420753 RCV000422784 RCV000426051 RCV000424682 RCV000424892 RCV000430294 RCV000430575 RCV000432365 RCV000433474 RCV000435608 RCV000437987 RCV000441202 RCV000444368 RCV000444287 RCV000662621 RCV001024933 RCV001851022
NM_000546.6(TP53):c.613T>C (p.Tyr205His)	SNV Germline/somatic	Chr17:7674918	Pathogenic/Likely pathogenic	Pancreatic adenocarcinoma Multiple myeloma Neoplasm of brain Carcinoma of esophagus Glioblastoma Non-Hodgkin lymphoma Lung adenocarcinoma Uterine carcinosarcoma Hepatocellular carcinoma Papillary renal cell carcinoma type 1 Malignant neoplasm of body of uterus Ovarian serous cystadenocarcinoma Squamous cell carcinoma of the head and neck Neoplasm of the large intestine Squamous cell lung carcinoma Breast neoplasm Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA16603099	rs_1057520008	5 SubmittersRCV000419308 RCV000420368 RCV000421826 RCV000422887 RCV000424493 RCV000427755 RCV000426781 RCV000431739 RCV000431958 RCV000432726 RCV000437451 RCV000437587 RCV000439923 RCV000440094 RCV000443622 RCV000443753 RCV000819983 RCV000775886 RCV004022252
NM_000546.6(TP53):c.613T>G (p.Tyr205Asp)	SNV Germline/somatic	Chr17:7674918	Conflicting classifications of pathogenicity	Lung adenocarcinoma Pancreatic adenocarcinoma Non-Hodgkin lymphoma Multiple myeloma Papillary renal cell carcinoma type 1 Breast neoplasm Squamous cell carcinoma of the head and neck Ovarian serous cystadenocarcinoma Uterine carcinosarcoma Hepatocellular carcinoma Malignant neoplasm of body of uterus Neoplasm of brain Squamous cell lung carcinoma Neoplasm of the large intestine Carcinoma of esophagus Glioblastoma Li-Fraumeni syndrome Li-Fraumeni syndrome 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA16603100	rs_1057520008	5 SubmittersRCV000421137 RCV000419128 RCV000423676 RCV000421350 RCV000426948 RCV000428535 RCV000428939 RCV000430021 RCV000434351 RCV000434446 RCV000438356 RCV000436740 RCV000439865 RCV000439629 RCV000444122 RCV000444873 RCV000462351 RCV000663307 RCV003441853
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.658T>A (p.Tyr220Asn)	SNV Germline/somatic	Chr17:7674873	Conflicting classifications of pathogenicity	Squamous cell carcinoma of the head and neck Glioblastoma Small cell lung carcinoma Lung adenocarcinoma Breast neoplasm Neoplasm of brain Neoplasm of the large intestine Uterine carcinosarcoma Malignant melanoma of skin Ovarian serous cystadenocarcinoma Pancreatic adenocarcinoma Transitional cell carcinoma of the bladder Papillary renal cell carcinoma, sporadic Malignant neoplasm of body of uterus Hepatocellular carcinoma Li-Fraumeni syndrome Condition: not provided Prostate adenocarcinoma Squamous cell lung carcinoma Gastric adenocarcinoma Li-Fraumeni syndrome 1 Papillary renal cell carcinoma type 1 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA16603101	rs_530941076	5 SubmittersRCV000419702 RCV000424584 RCV000423767 RCV000426310 RCV000429130 RCV000427847 RCV000429300 RCV000432093 RCV000434035 RCV000434427 RCV000437403 RCV000438679 RCV000438838 RCV000439357 RCV000443812 RCV001313857 RCV001575028 RCV000419021 RCV000419523 RCV000421037 RCV004022254 RCV000438068 RCV000570507
NM_000546.6(TP53):c.658T>G (p.Tyr220Asp)	SNV Germline/somatic	Chr17:7674873	Conflicting classifications of pathogenicity	Breast neoplasm Neoplasm of the large intestine Malignant melanoma of skin Transitional cell carcinoma of the bladder Ovarian serous cystadenocarcinoma Small cell lung carcinoma Hepatocellular carcinoma Uterine carcinosarcoma Gastric adenocarcinoma Papillary renal cell carcinoma, sporadic Papillary renal cell carcinoma type 1 Pancreatic adenocarcinoma Neoplasm of brain Squamous cell carcinoma of the head and neck Malignant neoplasm of body of uterus Prostate adenocarcinoma Lung adenocarcinoma Li-Fraumeni syndrome Squamous cell lung carcinoma Glioblastoma Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA16603102	rs_530941076	3 SubmittersRCV000417982 RCV000418575 RCV000418779 RCV000422783 RCV000427506 RCV000426793 RCV000428144 RCV000431034 RCV000430837 RCV000433449 RCV000434918 RCV000436457 RCV000437034 RCV000441127 RCV000440413 RCV000444915 RCV000444073 RCV001851023 RCV000424311 RCV000425315 RCV004022255
NM_000546.6(TP53):c.701A>C (p.Tyr234Ser)	SNV Germline/somatic	Chr17:7674262	Conflicting classifications of pathogenicity	Carcinoma of esophagus Gastric adenocarcinoma Ovarian serous cystadenocarcinoma Squamous cell lung carcinoma Pancreatic adenocarcinoma Glioblastoma Squamous cell carcinoma of the head and neck Adrenal cortex carcinoma Breast neoplasm Transitional cell carcinoma of the bladder Neoplasm of the large intestine Prostate adenocarcinoma Small cell lung carcinoma Hepatocellular carcinoma Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome	Criteria Provided Conflicting Classifications	CA16603103	rs_587780073	3 SubmittersRCV000421263 RCV000421924 RCV000423467 RCV000427293 RCV000430039 RCV000430207 RCV000431511 RCV000433051 RCV000437540 RCV000439556 RCV000440245 RCV000444569 RCV000443862 RCV000444596 RCV001025931 RCV001341542
NM_000546.6(TP53):c.700T>C (p.Tyr234His)	SNV Germline/somatic	Chr17:7674263	Pathogenic/Likely pathogenic	Gastric adenocarcinoma Small cell lung carcinoma Hepatocellular carcinoma Ovarian serous cystadenocarcinoma Glioblastoma Adrenal cortex carcinoma Transitional cell carcinoma of the bladder Carcinoma of esophagus Prostate adenocarcinoma Pancreatic adenocarcinoma Breast neoplasm Neoplasm of the large intestine Squamous cell lung carcinoma Hereditary cancer-predisposing syndrome Squamous cell carcinoma of the head and neck Li-Fraumeni syndrome Neoplasm of ovary Li-Fraumeni syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA16603104	rs_864622237	6 SubmittersRCV000418604 RCV000418790 RCV000419222 RCV000421640 RCV000427499 RCV000426894 RCV000428839 RCV000428164 RCV000431867 RCV000436907 RCV000438411 RCV000439967 RCV000441352 RCV000492782 RCV000437128 RCV000530551 RCV000785304 RCV002289544
NM_000546.6(TP53):c.700T>A (p.Tyr234Asn)	SNV Germline/somatic	Chr17:7674263	Pathogenic	Breast neoplasm Adrenal cortex carcinoma Transitional cell carcinoma of the bladder Carcinoma of esophagus Pancreatic adenocarcinoma Prostate adenocarcinoma Squamous cell lung carcinoma Hepatocellular carcinoma Glioblastoma Squamous cell carcinoma of the head and neck Ovarian serous cystadenocarcinoma Gastric adenocarcinoma Small cell lung carcinoma Neoplasm of the large intestine Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA16603105	rs_864622237	3 SubmittersRCV000417830 RCV000418444 RCV000423653 RCV000428072 RCV000426109 RCV000426512 RCV000426723 RCV000433276 RCV000434769 RCV000436114 RCV000436336 RCV000439167 RCV000444101 RCV000444893 RCV000809457 RCV001025925
NM_000546.6(TP53):c.707A>G (p.Tyr236Cys)	SNV Germline/somatic	Chr17:7674256	Conflicting classifications of pathogenicity	Prostate adenocarcinoma Neoplasm of brain Gastric adenocarcinoma Ovarian serous cystadenocarcinoma Squamous cell carcinoma of the head and neck Squamous cell lung carcinoma Lung adenocarcinoma Squamous cell carcinoma of the skin Pancreatic adenocarcinoma Neoplasm of the large intestine Breast neoplasm Neoplasm of ovary Condition: not provided Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA16603106	rs_730882026	8 SubmittersRCV000419208 RCV000420300 RCV000423298 RCV000425130 RCV000428749 RCV000430980 RCV000429935 RCV000437595 RCV000438183 RCV000440629 RCV000444464 RCV000785279 RCV001559774 RCV002365462 RCV001201781 RCV004022256
NM_000546.6(TP53):c.706T>A (p.Tyr236Asn)	SNV Germline/somatic	Chr17:7674257	Conflicting classifications of pathogenicity	Squamous cell carcinoma of the head and neck Neoplasm of the large intestine Gastric adenocarcinoma Squamous cell lung carcinoma Lung adenocarcinoma Prostate adenocarcinoma Pancreatic adenocarcinoma Squamous cell carcinoma of the skin Neoplasm of brain Ovarian serous cystadenocarcinoma Breast neoplasm Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA16040589	rs_587782289	5 SubmittersRCV000421176 RCV000422301 RCV000426248 RCV000431852 RCV000432981 RCV000438025 RCV000444573 RCV000444665 RCV000443891 RCV000427088 RCV000439518 RCV000463978 RCV000566931 RCV002289545
NM_000546.6(TP53):c.*6T>A	SNV Germline	Chr17:7669603	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome	Criteria Provided Conflicting Classifications	CA000667	rs_369567704	5 SubmittersRCV000586669 RCV001177928 RCV004000438
NM_000546.6(TP53):c.993+1G>C	SNV Germline/somatic	Chr17:7673534	Pathogenic/Likely pathogenic	Condition: not provided Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Li-Fraumeni syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA16607519	rs_11575997	5 SubmittersRCV000429174 RCV002289557 RCV000799825 RCV002289556
NM_000546.6(TP53):c.-11G>A	SNV Germline	Chr17:7676605	Conflicting classifications of pathogenicity	not specified Hereditary cancer-predisposing syndrome Familial cancer of breast Li-Fraumeni syndrome	Criteria Provided Conflicting Classifications	CA004011	rs_773666793	4 SubmittersRCV000433273 RCV001176466 RCV001198687 RCV004000417
NM_000546.6(TP53):c.717C>G (p.Asn239Lys)	SNV Germline	Chr17:7674246	Conflicting classifications of pathogenicity	Condition: not provided 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.673-1G>A	SNV Germline	Chr17:7674291	Pathogenic	Condition: not provided Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Li-Fraumeni syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA16607882	rs_878854073	6 SubmittersRCV000418491 RCV000708630 RCV001034938 RCV002289552
NM_000546.6(TP53):c.672+9T>C	SNV Germline	Chr17:7674850	Conflicting classifications of pathogenicity	not specified Li-Fraumeni syndrome	Criteria Provided Conflicting Classifications	CA16607883	rs_1057521030	4 SubmittersRCV000425870 RCV001424406
NM_000546.6(TP53):c.-12C>T	SNV Germline	Chr17:7676606	Conflicting classifications of pathogenicity	not specified Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1 12 conditions	Criteria Provided Conflicting Classifications	CA004012	rs_375229869	5 SubmittersRCV000434247 RCV000583581 RCV002289573 RCV002488960
NM_000546.6(TP53):c.1101-3C>T	SNV Germline	Chr17:7669693	Conflicting classifications of pathogenicity	not specified Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA16608655	rs_1057521167	4 SubmittersRCV000418865 RCV001861512 RCV001805046
NM_000546.6(TP53):c.919+7A>C	SNV Germline	Chr17:7673694	Conflicting classifications of pathogenicity	not specified Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1 TP53-related disorder	Criteria Provided Conflicting Classifications	CA001336	rs_199527475	7 SubmittersRCV000421770 RCV000459858 RCV000580655 RCV002289568 RCV003942414
NM_000546.6(TP53):c.880G>T (p.Glu294Ter)	SNV Germline/somatic	Chr17:7673740	Pathogenic	Condition: not provided Neoplasm of ovary Li-Fraumeni syndrome 1 Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA16608665	rs_1057520607	4 SubmittersRCV000433836 RCV001527467 RCV004022313 RCV002374641
NM_000546.6(TP53):c.96+15T>C	SNV Germline	Chr17:7676367	Conflicting classifications of pathogenicity	not specified Li-Fraumeni syndrome 1 Li-Fraumeni syndrome	Criteria Provided Conflicting Classifications	CA16608670	rs_200053580	3 SubmittersRCV000419666 RCV001124309 RCV002061601
NM_000546.6(TP53):c.993+8G>A	SNV Germline	Chr17:7673527	Conflicting classifications of pathogenicity	Li-Fraumeni syndrome Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA16615685	rs_1060504163	2 SubmittersRCV000471374 RCV001127284
NM_000546.6(TP53):c.920-1G>C	SNV Germline	Chr17:7673609	Pathogenic	Li-Fraumeni syndrome Condition: not provided	Criteria Provided Single Submitter	CA16615686	rs_587781702	2 SubmittersRCV000458070 RCV003151060
NM_000546.6(TP53):c.783-4G>A	SNV Germline	Chr17:7673841	Conflicting classifications of pathogenicity	Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA16615687	rs_1060504160	4 SubmittersRCV000468122 RCV001181991
NM_000546.6(TP53):c.951G>T (p.Gln317His)	SNV Germline	Chr17:7673577	Conflicting classifications of pathogenicity	Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA16615689	rs_1060501199	2 SubmittersRCV000477030 RCV002374764
NM_000546.6(TP53):c.932A>G (p.Asn311Ser)	SNV Germline	Chr17:7673596	Conflicting classifications of pathogenicity	Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA16615690	rs_56184981	4 SubmittersRCV000473016 RCV001805064 RCV002289599
NM_000546.6(TP53):c.663G>A (p.Glu221=)	SNV Germline	Chr17:7674868	Conflicting classifications of pathogenicity	Condition: not provided Li-Fraumeni syndrome	Criteria Provided Conflicting Classifications	CA16615692	rs_1060504161	2 SubmittersRCV000483671 RCV001421969
NM_000546.6(TP53):c.905G>A (p.Gly302Glu)	SNV Germline	Chr17:7673715	Conflicting classifications of pathogenicity	Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA16615695	rs_1060501202	3 SubmittersRCV000468864 RCV001018766 RCV002289600
NM_000546.6(TP53):c.574C>T (p.Gln192Ter)	SNV Germline/somatic	Chr17:7674957	Pathogenic	Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Malignant tumor of breast Li-Fraumeni syndrome 1 Adrenal cortex carcinoma	Criteria Provided Multiple Submitters No Conflicts	CA16615700	rs_866380588	6 SubmittersRCV000472712 RCV001024481 RCV001358339 RCV002289596 RCV004000747
NM_000546.6(TP53):c.783-2A>G	SNV Germline	Chr17:7673839	Pathogenic	Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA16615702	rs_1060501207	2 SubmittersRCV000464087 RCV002411441
NM_000546.6(TP53):c.773A>G (p.Glu258Gly)	SNV Germline	Chr17:7674190	Conflicting classifications of pathogenicity	Li-Fraumeni syndrome Bone osteosarcoma Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA16615703	rs_1060501201	3 SubmittersRCV000459389 RCV002272239 RCV004022605
NM_000546.6(TP53):c.537T>A (p.His179Gln)	SNV Germline/somatic	Chr17:7675075	Pathogenic	Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Neoplasm of ovary Acute myeloid leukemia	Reviewed By Expert Panel	CA16615708	rs_876660821	5 SubmittersRCV000464573 RCV000567952 RCV001527472 RCV003159559
NM_000546.6(TP53):c.464C>A (p.Thr155Asn)	SNV Germline	Chr17:7675148	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome not specified Li-Fraumeni syndrome Condition: not provided Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA16615709	rs_786202752	6 SubmittersRCV000492645 RCV000506226 RCV000473602 RCV002269272 RCV004022603
NM_000546.6(TP53):c.329G>T (p.Arg110Leu)	SNV Germline/somatic	Chr17:7676040	Pathogenic/Likely pathogenic	Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Neoplasm of ovary Li-Fraumeni syndrome 1 Adrenal cortex carcinoma	Criteria Provided Multiple Submitters No Conflicts	CA002845	rs_11540654	8 SubmittersRCV000473145 RCV000492590 RCV000785348 RCV002289602 RCV004000748
NM_000546.6(TP53):c.132G>A (p.Met44Ile)	SNV Germline	Chr17:7676237	Conflicting classifications of pathogenicity	Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA16615713	rs_1060501190	3 SubmittersRCV000459820 RCV001011072 RCV002289589
NM_000546.6(TP53):c.103T>A (p.Leu35Met)	SNV Germline	Chr17:7676266	Conflicting classifications of pathogenicity	Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA16615715	rs_1060501211	3 SubmittersRCV000470404 RCV000572574 RCV002289606
NM_000546.6(TP53):c.664C>T (p.Pro222Ser)	SNV Germline	Chr17:7674867	Conflicting classifications of pathogenicity	Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA16615720	rs_1060501203	4 SubmittersRCV000477098 RCV000564109 RCV003318578
NM_000546.6(TP53):c.530C>T (p.Pro177Leu)	SNV Germline	Chr17:7675082	Conflicting classifications of pathogenicity	Li-Fraumeni syndrome Condition: not provided Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA16615728	rs_751477326	4 SubmittersRCV000477631 RCV000759377 RCV002348300
NM_000546.6(TP53):c.321C>A (p.Tyr107Ter)	SNV Germline	Chr17:7676048	Pathogenic	Li-Fraumeni syndrome	Criteria Provided Single Submitter	CA16615729	rs_770776262	1 SubmittersRCV000473161
NM_000546.6(TP53):c.313G>C (p.Gly105Arg)	SNV Germline	Chr17:7676056	Pathogenic/Likely pathogenic	Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA16615732	rs_1060501195	3 SubmittersRCV000475325 RCV000492606 RCV002289594
NM_000546.6(TP53):c.79C>A (p.Pro27Thr)	SNV Germline	Chr17:7676399	Conflicting classifications of pathogenicity	Li-Fraumeni syndrome Condition: not provided Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA16615735	rs_922736614	4 SubmittersRCV000468603 RCV000986054 RCV002289604 RCV002289603
NM_000546.6(TP53):c.920-5C>A	SNV Germline	Chr17:7673613	Conflicting classifications of pathogenicity	Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA16615935	rs_34361146	2 SubmittersRCV000471798 RCV002374840
NM_000546.6(TP53):c.843C>A (p.Asp281Glu)	SNV Germline/somatic	Chr17:7673777	Likely pathogenic	Li-Fraumeni syndrome Carcinoma of colon Condition: not provided Neoplasm of ovary Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA16615937	rs_1057519984	5 SubmittersRCV000470818 RCV000499361 RCV000658764 RCV000785325 RCV002446795
NM_000546.6(TP53):c.811G>A (p.Glu271Lys)	SNV Germline	Chr17:7673809	Conflicting classifications of pathogenicity	Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Condition: not provided Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype	Criteria Provided Conflicting Classifications	CA16615939	rs_1060501191	5 SubmittersRCV000457572 RCV000775714 RCV001815331 RCV003315242
NM_000546.6(TP53):c.747G>C (p.Arg249Ser)	SNV Germline	Chr17:7674216	Conflicting classifications of pathogenicity	Li-Fraumeni syndrome Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA16615944	rs_28934571	2 SubmittersRCV000465003 RCV004022606
NM_000546.6(TP53):c.646G>C (p.Val216Leu)	SNV Germline/somatic	Chr17:7674885	Conflicting classifications of pathogenicity	Li-Fraumeni syndrome Squamous cell carcinoma of the head and neck	Criteria Provided Conflicting Classifications	CA16615950	rs_730882025	2 SubmittersRCV000466409 RCV001270272
NM_000546.6(TP53):c.139C>A (p.Pro47Thr)	SNV Germline	Chr17:7676230	Conflicting classifications of pathogenicity	Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA16615959	rs_1800371	4 SubmittersRCV000463583 RCV000774798 RCV002289605
NM_000546.6(TP53):c.11C>G (p.Pro4Arg)	SNV Germline	Chr17:7676584	Conflicting classifications of pathogenicity	Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA16615964	rs_878854064	3 SubmittersRCV000475451 RCV001010274 RCV002289597
NM_000546.6(TP53):c.941C>T (p.Ser314Phe)	SNV Germline	Chr17:7673587	Conflicting classifications of pathogenicity	Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1 Adrenocortical carcinoma, hereditary	Criteria Provided Conflicting Classifications	CA001234	rs_751440465	4 SubmittersRCV000456310 RCV000570325 RCV002289598 RCV004567972
NM_000546.6(TP53):c.924G>C (p.Leu308=)	SNV Germline	Chr17:7673604	Conflicting classifications of pathogenicity	Li-Fraumeni syndrome not specified Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA16615992	rs_786202546	5 SubmittersRCV000462950 RCV000506600 RCV000575062
NM_000546.6(TP53):c.740A>G (p.Asn247Ser)	SNV Germline	Chr17:7674223	Conflicting classifications of pathogenicity	Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA16615997	rs_786201762	2 SubmittersRCV000457243 RCV002379430
NM_007194.4(CHEK2):c.1461+5G>A	SNV Germline	Chr22:28694027	Conflicting classifications of pathogenicity	Familial cancer of breast Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 2	Criteria Provided Conflicting Classifications	CA16616302	rs_769841229	7 SubmittersRCV000468962 RCV000561946 RCV003444238
NM_000546.6(TP53):c.992A>G (p.Gln331Arg)	SNV Germline	Chr17:7673536	Conflicting classifications of pathogenicity	Condition: not provided Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA16620611	rs_1064795056	4 SubmittersRCV000479182 RCV001037256 RCV002289637 RCV002289636
NM_000546.6(TP53):c.970G>C (p.Asp324His)	SNV Germline	Chr17:7673558	Conflicting classifications of pathogenicity	Condition: not provided Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA16620612	rs_1064794810	6 SubmittersRCV000478385 RCV000555965 RCV000573045 RCV002289633
NM_000546.6(TP53):c.884C>T (p.Pro295Leu)	SNV Germline	Chr17:7673736	Conflicting classifications of pathogenicity	Condition: not provided Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA001416	rs_751713111	5 SubmittersRCV000486525 RCV000633374 RCV000774786
NM_000546.6(TP53):c.861G>C (p.Glu287Asp)	SNV Germline	Chr17:7673759	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA001463	rs_748891343	6 SubmittersRCV000481706 RCV000568299 RCV001214612 RCV002289642
NM_000546.6(TP53):c.853G>A (p.Glu285Lys)	SNV Germline/somatic	Chr17:7673767	Pathogenic/Likely pathogenic	Condition: not provided Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Poly (ADP-Ribose) polymerase inhibitor response Li-Fraumeni syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA16620615	rs_112431538	6 SubmittersRCV000479542 RCV000492206 RCV000633365 RCV000626449 RCV002289628
NM_000546.6(TP53):c.836G>A (p.Gly279Glu)	SNV Germline/somatic	Chr17:7673784	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome Neoplasm of ovary not specified Squamous cell carcinoma of the head and neck Li-Fraumeni syndrome 1 Li-Fraumeni syndrome	Criteria Provided Conflicting Classifications	CA16620616	rs_1064793881	9 SubmittersRCV000484876 RCV000492354 RCV000785274 RCV000584418 RCV000989709 RCV002289625 RCV002526543
NM_000546.6(TP53):c.829T>C (p.Cys277Arg)	SNV Germline	Chr17:7673791	Conflicting classifications of pathogenicity	Condition: not provided Li-Fraumeni syndrome Familial cancer of breast Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA16620617	rs_1064795369	4 SubmittersRCV000480494 RCV000819627 RCV002248705 RCV002431408
NM_000546.6(TP53):c.749C>T (p.Pro250Leu)	SNV Germline	Chr17:7674214	Pathogenic/Likely pathogenic	Condition: not provided Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA16620620	rs_1064794311	4 SubmittersRCV000479937 RCV000547538 RCV001026502
NM_000546.6(TP53):c.685T>C (p.Cys229Arg)	SNV Germline	Chr17:7674278	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome	Criteria Provided Conflicting Classifications	CA16620623	rs_1064794312	4 SubmittersRCV000482930 RCV000492777 RCV000633388
NM_000546.6(TP53):c.569C>T (p.Pro190Leu)	SNV Germline	Chr17:7674962	Likely pathogenic	Condition: not provided Li-Fraumeni syndrome Li-Fraumeni syndrome 1 Hereditary cancer-predisposing syndrome	Reviewed By Expert Panel	CA16620625	rs_876660825	5 SubmittersRCV000484792 RCV000551566 RCV001527084 RCV002350050
NM_000546.6(TP53):c.482C>A (p.Ala161Asp)	SNV Germline	Chr17:7675130	Conflicting classifications of pathogenicity	Condition: not provided Li-Fraumeni syndrome Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA16620630	rs_1064795691	3 SubmittersRCV000481512 RCV000552464 RCV004023170
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.31G>A (p.Glu11Lys)	SNV Germline	Chr17:7676564	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Li-Fraumeni syndrome 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA003910	rs_201382018	7 SubmittersRCV000563270 RCV000548671 RCV000663228 RCV001704594
NM_007194.4(CHEK2):c.1482G>C (p.Lys494Asn)	SNV Germline	Chr22:28689195	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome Familial cancer of breast Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA16621043	rs_767043399	7 SubmittersRCV000485124 RCV000562793 RCV000556152 RCV001174504
NM_007194.4(CHEK2):c.444+2T>C	SNV Germline	Chr22:28725241	Pathogenic/Likely pathogenic	Condition: not provided Hereditary cancer-predisposing syndrome Familial cancer of breast Malignant tumor of prostate Familial cancer of breast Li-Fraumeni syndrome 2 Bone osteosarcoma	Criteria Provided Multiple Submitters No Conflicts	CA16621080	rs_560596101	9 SubmittersRCV000483398 RCV000562639 RCV000543761 RCV000763474
NM_000546.6(TP53):c.1000G>T (p.Gly334Trp)	SNV Germline	Chr17:7670709	Likely pathogenic	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA397832878	rs_730882028	3 SubmittersRCV000492343 RCV002289665
NM_000546.6(TP53):c.993G>A (p.Gln331=)	SNV Germline/somatic	Chr17:7673535	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Condition: not provided Li-Fraumeni syndrome Li-Fraumeni syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA10590137	rs_11575996	6 SubmittersRCV000492456 RCV000521745 RCV000685844 RCV002289663
NM_000546.6(TP53):c.919+2T>G	SNV Germline/somatic	Chr17:7673699	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Condition: not provided Li-Fraumeni syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA397836235	rs_1131691016	5 SubmittersRCV000492618 RCV000808655 RCV001542803 RCV002289666
NM_000546.6(TP53):c.919+1G>C	SNV Germline/somatic	Chr17:7673700	Likely pathogenic	Hereditary cancer-predisposing syndrome Condition: not provided Neoplasm of ovary Li-Fraumeni syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA397836244	rs_1131691039	4 SubmittersRCV000492089 RCV000786818 RCV000785296 RCV004023283
NM_000546.6(TP53):c.826G>C (p.Ala276Pro)	SNV Germline/somatic	Chr17:7673794	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Neoplasm of ovary Adrenocortical carcinoma, hereditary	Criteria Provided Conflicting Classifications	CA397836931	rs_1131691029	4 SubmittersRCV000492584 RCV000705570 RCV000785453 RCV004568619
NM_000546.6(TP53):c.800G>C (p.Arg267Pro)	SNV Germline/somatic	Chr17:7673820	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Acute myeloid leukemia	Criteria Provided Conflicting Classifications	CA397837115	rs_587780075	3 SubmittersRCV000492273 RCV000691629 RCV003326137
NM_000546.6(TP53):c.737T>C (p.Met246Thr)	SNV Germline/somatic	Chr17:7674226	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Neoplasm of ovary Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA397838998	rs_587780074	4 SubmittersRCV000492075 RCV000704600 RCV000785245 RCV002289671
NM_000546.6(TP53):c.643A>C (p.Ser215Arg)	SNV Germline	Chr17:7674888	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1 Li-Fraumeni syndrome	Criteria Provided Conflicting Classifications	CA397840019	rs_886039484	3 SubmittersRCV000492567 RCV004023282 RCV002523445
NM_000546.6(TP53):c.559+1G>A	SNV Germline	Chr17:7675052	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome 11 conditions Condition: not provided Li-Fraumeni syndrome Li-Fraumeni syndrome 1 Adrenocortical carcinoma, hereditary	Criteria Provided Multiple Submitters No Conflicts	CA397841068	rs_1131691042	9 SubmittersRCV000492159 RCV000763418 RCV000786834 RCV001210960 RCV002289678 RCV003476180
NM_000546.6(TP53):c.514G>T (p.Val172Phe)	SNV Germline	Chr17:7675098	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA397841576	rs_1131691043	3 SubmittersRCV000492688 RCV002527066 RCV004023284
NM_000546.6(TP53):c.503A>G (p.His168Arg)	SNV Germline	Chr17:7675109	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA287488569	rs_867114783	3 SubmittersRCV000492442 RCV000702915 RCV004023278
NM_000546.6(TP53):c.470T>C (p.Val157Ala)	SNV Germline	Chr17:7675142	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Adrenal cortex carcinoma Condition: not provided Li-Fraumeni syndrome 1 Li-Fraumeni syndrome	Criteria Provided Conflicting Classifications	CA397842041	rs_1131691023	5 SubmittersRCV000492393 RCV000505579 RCV002274041 RCV002289672 RCV003509552
NM_000546.6(TP53):c.438G>A (p.Trp146Ter)	SNV Germline/somatic	Chr17:7675174	Pathogenic	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Li-Fraumeni syndrome 1 Neoplasm of ovary	Criteria Provided Multiple Submitters No Conflicts	CA397842363	rs_1131691026	5 SubmittersRCV000492181 RCV000633358 RCV002289674 RCV001527473
NM_000546.6(TP53):c.392A>T (p.Asn131Ile)	SNV Germline	Chr17:7675220	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Li-Fraumeni syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA397842926	rs_1131691037	4 SubmittersRCV000492742 RCV000821569 RCV002289677
NM_000546.6(TP53):c.313G>A (p.Gly105Ser)	SNV Germline/somatic	Chr17:7676056	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Li-Fraumeni syndrome 1 Adrenal cortex carcinoma	Criteria Provided Multiple Submitters No Conflicts	CA397844735	rs_1060501195	4 SubmittersRCV000492331 RCV001379190 RCV002289669 RCV004003474
NM_000546.6(TP53):c.96+1G>C	SNV Germline	Chr17:7676381	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Li-Fraumeni syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA397848258	rs_1131691003	4 SubmittersRCV000492543 RCV002523444 RCV003485592
NM_000546.6(TP53):c.75-2A>G	SNV Germline/somatic	Chr17:7676405	Likely pathogenic	Hereditary cancer-predisposing syndrome Condition: not provided Li-Fraumeni syndrome Li-Fraumeni syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA397848502	rs_1131691020	4 SubmittersRCV000492315 RCV001543700 RCV001851347 RCV002289668
NM_000546.6(TP53):c.1015G>T (p.Glu339Ter)	SNV Germline	Chr17:7670694	Pathogenic	Li-Fraumeni syndrome 1 Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome TP53-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA397832685	rs_17882252	4 SubmittersRCV000505616 RCV000689964 RCV002341191 RCV003409717
NM_000546.6(TP53):c.752T>C (p.Ile251Thr)	SNV Germline	Chr17:7674211	Conflicting classifications of pathogenicity	not specified Li-Fraumeni syndrome Condition: not provided Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA397838899	rs_730882027	4 SubmittersRCV000506798 RCV001379962 RCV001755753 RCV002395222
NM_000546.6(TP53):c.617T>C (p.Leu206Ser)	SNV Germline	Chr17:7674914	Conflicting classifications of pathogenicity	not specified Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome	Criteria Provided Conflicting Classifications	CA397840264	rs_1555525804	3 SubmittersRCV000507226 RCV000566251 RCV001049540
NM_000546.6(TP53):c.375+2T>C	SNV Germline	Chr17:7675992	Pathogenic/Likely pathogenic	Condition: not provided Hereditary breast ovarian cancer syndrome Li-Fraumeni syndrome Li-Fraumeni syndrome 1 Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA397844132	rs_1555526469	5 SubmittersRCV000505908 RCV000586625 RCV000692558 RCV002289693 RCV002289694
NM_007194.4(CHEK2):c.417C>A (p.Tyr139Ter)	SNV Germline	Chr22:28725270	Pathogenic	Condition: not provided Familial cancer of breast Li-Fraumeni syndrome 2 Familial cancer of breast Malignant tumor of prostate Bone osteosarcoma Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Breast and/or ovarian cancer	Criteria Provided Multiple Submitters No Conflicts	CA411107953	rs_200917541	9 SubmittersRCV000507030 RCV000541871 RCV000763476 RCV001375597 RCV000572280 RCV003150248
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.949C>T (p.Gln317Ter)	SNV Germline	Chr17:7673579	Pathogenic/Likely pathogenic	Condition: not provided Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA397835973	rs_764735889	6 SubmittersRCV000520579 RCV000615397 RCV000583201 RCV002289710
NM_000546.6(TP53):c.724T>C (p.Cys242Arg)	SNV Germline	Chr17:7674239	Conflicting classifications of pathogenicity	Condition: not provided Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA397839073	rs_1057519982	5 SubmittersRCV000523905 RCV001857954 RCV002376961 RCV004023543
NM_007194.4(CHEK2):c.232C>T (p.Gln78Ter)	SNV Germline	Chr22:28734490	Pathogenic/Likely pathogenic	Condition: not provided Familial cancer of breast Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 2	Criteria Provided Multiple Submitters No Conflicts	CA411090665	rs_1555932341	6 SubmittersRCV000522849 RCV000576726 RCV001015209 RCV004577527
NM_000546.6(TP53):c.1165G>A (p.Gly389Arg)	SNV Germline	Chr17:7669626	Conflicting classifications of pathogenicity	Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA397830162	rs_587783064	2 SubmittersRCV000558251 RCV002330841
NM_000546.6(TP53):c.925C>T (p.Pro309Ser)	SNV Germline	Chr17:7673603	Conflicting classifications of pathogenicity	Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA397836140	rs_1555525012	5 SubmittersRCV000537437 RCV000574214 RCV002289745
NM_000546.6(TP53):c.850A>T (p.Thr284Ser)	SNV Germline	Chr17:7673770	Conflicting classifications of pathogenicity	Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA397836761	rs_1204379654	5 SubmittersRCV000546011 RCV000563243 RCV001544620
NM_000546.6(TP53):c.783-1G>A	SNV Germline/somatic	Chr17:7673838	Pathogenic	Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA397837303	rs_1555525367	5 SubmittersRCV000539601 RCV000565712 RCV002289743 RCV001533211
NM_000546.6(TP53):c.770T>C (p.Leu257Pro)	SNV Germline	Chr17:7674193	Conflicting classifications of pathogenicity	Li-Fraumeni syndrome Li-Fraumeni syndrome 1 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA397837703	rs_28934577	3 SubmittersRCV000540536 RCV004023790 RCV003159760
NM_000546.6(TP53):c.731G>C (p.Gly244Ala)	SNV Germline/somatic	Chr17:7674232	Pathogenic/Likely pathogenic	Li-Fraumeni syndrome Lip and oral cavity carcinoma Li-Fraumeni syndrome 1 Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA287488006	rs_985033810	4 SubmittersRCV000548437 RCV001255675 RCV004023789 RCV002384069
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.377A>G (p.Tyr126Cys)	SNV Germline/somatic	Chr17:7675235	Conflicting classifications of pathogenicity	Li-Fraumeni syndrome Neoplasm of ovary Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA397843956	rs_1555526335	6 SubmittersRCV000547041 RCV000785493 RCV001021115 RCV002289730
NM_000546.6(TP53):c.341T>C (p.Leu114Ser)	SNV Germline	Chr17:7676028	Conflicting classifications of pathogenicity	Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome not specified Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA002835	rs_781724995	5 SubmittersRCV000537102 RCV001177908 RCV001821513 RCV002289729
NM_000546.6(TP53):c.229C>A (p.Pro77Thr)	SNV Germline	Chr17:7676140	Conflicting classifications of pathogenicity	Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA003025	rs_753085009	3 SubmittersRCV000546598 RCV000563835 RCV002289723
NM_000546.6(TP53):c.677G>T (p.Gly226Val)	SNV Germline	Chr17:7674286	Conflicting classifications of pathogenicity	Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA287488077	rs_970212462	5 SubmittersRCV000542075 RCV000572327 RCV002289739 RCV001591203
NM_000546.6(TP53):c.673-2A>G	SNV Germline/somatic	Chr17:7674292	Pathogenic/Likely pathogenic	Li-Fraumeni syndrome Condition: not provided Neoplasm of ovary Li-Fraumeni syndrome 1 Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA397839547	rs_1555525585	7 SubmittersRCV000553068 RCV000786824 RCV000785307 RCV002289737 RCV002289738
NM_000546.6(TP53):c.530C>G (p.Pro177Arg)	SNV Germline	Chr17:7675082	Pathogenic/Likely pathogenic	Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Condition: not provided Li-Fraumeni syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA002428	rs_751477326	6 SubmittersRCV000540639 RCV000565979 RCV000582953 RCV002289734
NM_000546.6(TP53):c.463A>G (p.Thr155Ala)	SNV Germline	Chr17:7675149	Conflicting classifications of pathogenicity	Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA002539	rs_772683278	4 SubmittersRCV000534841 RCV002289733 RCV002289732 RCV001563388
NM_000546.6(TP53):c.372C>A (p.Cys124Ter)	SNV Germline	Chr17:7675997	Pathogenic	Li-Fraumeni syndrome Li-Fraumeni syndrome 1	Reviewed By Expert Panel	CA397844214	rs_1555526478	3 SubmittersRCV000541004 RCV004023787
NM_000546.6(TP53):c.1060C>T (p.Gln354Ter)	SNV Germline	Chr17:7670649	Likely pathogenic	Li-Fraumeni syndrome	Criteria Provided Single Submitter	CA397832178	rs_755394212	1 SubmittersRCV000531178
NM_000546.6(TP53):c.835G>A (p.Gly279Arg)	SNV Germline	Chr17:7673785	Conflicting classifications of pathogenicity	Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1 Adrenocortical carcinoma, hereditary	Criteria Provided Conflicting Classifications	CA397836877	rs_1555525248	4 SubmittersRCV000547189 RCV000566142 RCV002267618 RCV003459203
NM_000546.6(TP53):c.516T>G (p.Val172=)	SNV Germline	Chr17:7675096	Conflicting classifications of pathogenicity	Li-Fraumeni syndrome Condition: not provided Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA002450	rs_749309577	4 SubmittersRCV000556128 RCV000578979 RCV001023655
NM_000546.6(TP53):c.289G>T (p.Val97Phe)	SNV Germline	Chr17:7676080	Conflicting classifications of pathogenicity	Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA397844977	rs_730882023	4 SubmittersRCV000545045 RCV001526005 RCV002289725
NM_000546.6(TP53):c.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.830G>T (p.Cys277Phe)	SNV Germline	Chr17:7673790	Conflicting classifications of pathogenicity	Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome TP53-related disorder Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA001518	rs_763098116	5 SubmittersRCV000532028 RCV002431551 RCV003409773 RCV004023791
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.376-2A>T	SNV Germline/somatic	Chr17:7675238	Pathogenic/Likely pathogenic	Li-Fraumeni syndrome Neoplasm of ovary Condition: not provided Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA397843977	rs_786202799	4 SubmittersRCV000532456 RCV000785465 RCV000786837 RCV002350198
NM_000546.6(TP53):c.1054G>T (p.Asp352Tyr)	SNV Germline	Chr17:7670655	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA397832246	rs_1555524394	3 SubmittersRCV000574074 RCV001043167 RCV002289807
NM_000546.6(TP53):c.1160C>G (p.Thr387Arg)	SNV Germline	Chr17:7669631	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome	Criteria Provided Conflicting Classifications	CA287485465	rs_927888647	3 SubmittersRCV000569933 RCV001035792
NM_000546.6(TP53):c.848G>C (p.Arg283Pro)	SNV Germline	Chr17:7673772	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome not specified Li-Fraumeni syndrome 1 Li-Fraumeni syndrome	Criteria Provided Conflicting Classifications	CA397836790	rs_371409680	5 SubmittersRCV000565161 RCV001731795 RCV002289837 RCV003767232
NM_000546.6(TP53):c.737T>A (p.Met246Lys)	SNV Germline	Chr17:7674226	Likely pathogenic	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1 Li-Fraumeni syndrome	Criteria Provided Multiple Submitters No Conflicts	CA397839001	rs_587780074	3 SubmittersRCV000574219 RCV002289798 RCV000797952
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.1014C>G (p.Phe338Leu)	SNV Germline	Chr17:7670695	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA000848	rs_150293825	5 SubmittersRCV000576115 RCV001322989 RCV002289821
NM_000546.6(TP53):c.974G>A (p.Gly325Glu)	SNV Germline	Chr17:7673554	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Adrenocortical carcinoma, hereditary	Criteria Provided Conflicting Classifications	CA397835817	rs_121912659	5 SubmittersRCV000566077 RCV001217424 RCV003476325
NM_000546.6(TP53):c.434T>A (p.Leu145Gln)	SNV Germline/somatic	Chr17:7675178	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Neoplasm of ovary Condition: not provided Li-Fraumeni syndrome Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA397842430	rs_587782197	7 SubmittersRCV000565971 RCV000785310 RCV001537369 RCV003621548 RCV004024460
NM_000546.6(TP53):c.406C>G (p.Gln136Glu)	SNV Germline	Chr17:7675206	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA397842769	rs_1555526268	3 SubmittersRCV000572692 RCV001352113 RCV002289793
NM_000546.6(TP53):c.376-4A>T	SNV Germline	Chr17:7675240	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome	Criteria Provided Conflicting Classifications	CA397843997	rs_1221388024	4 SubmittersRCV000564076 RCV001451701
NM_000546.6(TP53):c.160T>C (p.Phe54Leu)	SNV Germline	Chr17:7676209	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome	Criteria Provided Conflicting Classifications	CA397846436	rs_1555526742	2 SubmittersRCV000571144 RCV003621549
NM_000546.6(TP53):c.96+1G>T	SNV Germline/somatic	Chr17:7676381	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome 11 conditions Li-Fraumeni syndrome Li-Fraumeni syndrome 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA397848251	rs_1131691003	6 SubmittersRCV000566426 RCV000763420 RCV001203248 RCV002289813 RCV003320444
NM_000546.6(TP53):c.673G>A (p.Val225Ile)	SNV Germline	Chr17:7674290	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1 Li-Fraumeni syndrome	Criteria Provided Conflicting Classifications	CA397839539	rs_746504075	3 SubmittersRCV000571914 RCV002289785 RCV001216966
NM_000546.6(TP53):c.776A>T (p.Asp259Val)	SNV Germline	Chr17:7674187	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1 Li-Fraumeni syndrome	Criteria Provided Conflicting Classifications	CA397837621	rs_745425759	5 SubmittersRCV000563029 RCV000663222 RCV002526892
NM_000546.6(TP53):c.738G>A (p.Met246Ile)	SNV Germline	Chr17:7674225	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Hereditary breast ovarian cancer syndrome	Criteria Provided Multiple Submitters No Conflicts	CA287487993	rs_1019340046	3 SubmittersRCV000561491 RCV000633390 RCV003483672
NM_000546.6(TP53):c.712T>A (p.Cys238Ser)	SNV Germline	Chr17:7674251	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome	Criteria Provided Conflicting Classifications	CA397839198	rs_1057519981	2 SubmittersRCV000565464 RCV003509567
NM_000546.6(TP53):c.400T>A (p.Phe134Ile)	SNV Germline	Chr17:7675212	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA397842840	rs_267605077	2 SubmittersRCV000565274 RCV004024466
NM_000546.6(TP53):c.382C>A (p.Pro128Thr)	SNV Germline	Chr17:7675230	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Li-Fraumeni syndrome 1 Breast and/or ovarian cancer	Criteria Provided Conflicting Classifications	CA397843906	rs_1555526327	6 SubmittersRCV000569462 RCV000633349 RCV002289789 RCV003492102
NM_000546.6(TP53):c.275C>T (p.Pro92Leu)	SNV Germline	Chr17:7676094	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA397845138	rs_1210700121	5 SubmittersRCV000566433 RCV000811514 RCV002289782
NM_000546.6(TP53):c.263C>T (p.Ala88Val)	SNV Germline	Chr17:7676106	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA397845305	rs_1555526631	3 SubmittersRCV000565147 RCV001322778 RCV002289783
NM_000546.6(TP53):c.454C>T (p.Pro152Ser)	SNV Germline	Chr17:7675158	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Glioma susceptibility 1	Criteria Provided Conflicting Classifications	CA002580	rs_767328513	3 SubmittersRCV000570923 RCV001367015 RCV002272288
NM_000546.6(TP53):c.214C>T (p.Pro72Ser)	SNV Germline	Chr17:7676155	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome	Criteria Provided Conflicting Classifications	CA003069	rs_587782769	2 SubmittersRCV000573116 RCV002304214
NM_000546.6(TP53):c.376-1G>A	SNV Germline/somatic	Chr17:7675237	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Neoplasm of ovary Li-Fraumeni syndrome Condition: not provided Lip and oral cavity carcinoma Li-Fraumeni syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA287488727	rs_868137297	9 SubmittersRCV000570638 RCV000785531 RCV000800144 RCV000786836 RCV001255670 RCV002289803
NM_000546.6(TP53):c.375+2T>G	SNV Germline	Chr17:7675992	Pathogenic/Likely pathogenic	Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA397844129	rs_1555526469	3 SubmittersRCV003767131 RCV000571256 RCV000786838
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.98C>A (p.Ser33Tyr)	SNV Germline	Chr17:7676271	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA397848079	rs_1555526832	3 SubmittersRCV000561224 RCV000819381 RCV002289812
NM_000546.6(TP53):c.121G>A (p.Asp41Asn)	SNV Germline	Chr17:7676248	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA397847025	rs_1555526789	3 SubmittersRCV000562780 RCV000822098 RCV002289833
NM_000546.6(TP53):c.1038G>C (p.Glu346Asp)	SNV Germline	Chr17:7670671	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome	Criteria Provided Conflicting Classifications	CA397832451	rs_1555524406	2 SubmittersRCV000562934 RCV001865731
NM_000546.6(TP53):c.994-2A>G	SNV Germline	Chr17:7670717	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Condition: not provided Li-Fraumeni syndrome 1 Li-Fraumeni syndrome	Criteria Provided Multiple Submitters No Conflicts	CA287485766	rs_867389695	5 SubmittersRCV000572283 RCV000786813 RCV003338668 RCV003117344

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

SNV
Germline

Chr22:28725099

Conflicting classifications of pathogenicity; risk factor

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

Criteria Provided
Conflicting Classifications

CA117630

rs_17879961

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

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

SNV
Germline

Chr22:28725254

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA117632

rs_137853007

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

NM_007194.4(CHEK2):c.542G>A (p.Arg181His)

SNV
Germline

Chr22:28725027

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA117641

rs_121908701

20 SubmittersRCV000114761 RCV000129670 RCV000233960 RCV001030688 RCV000765623 RCV001193685 RCV001357854 RCV001294022 RCV001797995 RCV003333687 RCV004556711

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

SNV
Germline

Chr22:28695219

Pathogenic/Likely pathogenic/Pathogenic, low penetrance/Established risk allele

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

Criteria Provided
Multiple Submitters
No Conflicts

CA250528

rs_137853011

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

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.772G>A (p.Glu258Lys)

SNV
Germline/somatic

Chr17:7674191

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA000406

rs_121912652

9 SubmittersRCV000013141 RCV000161071 RCV000582699 RCV000772122 RCV000792895 RCV000785291

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

SNV
Germline/somatic

Chr17:7674230

Pathogenic

Li-Fraumeni syndrome 1
Condition: not provided
Uterine carcinosarcoma
Transitional cell carcinoma of the bladder
Prostate adenocarcinoma
Breast neoplasm
Squamous cell carcinoma of the head and neck
Carcinoma of esophagus
Glioblastoma
Hepatocellular carcinoma
Pancreatic adenocarcinoma
Hereditary cancer-predisposing syndrome
Neoplasm of brain
Lung adenocarcinoma
Neoplasm of the large intestine
Ovarian serous cystadenocarcinoma
Gastric adenocarcinoma
Squamous cell lung carcinoma
Li-Fraumeni syndrome
Brainstem glioma
Breast and/or ovarian cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA000369

rs_28934575

8 SubmittersRCV000013142 RCV000161025 RCV000417593 RCV000426090 RCV000430002 RCV000419737 RCV000436186 RCV000440197 RCV000425471 RCV000441334 RCV000428895 RCV000492412 RCV000440886 RCV000418673 RCV000443435 RCV000423577 RCV000424262 RCV000436330 RCV000633397 RCV000434535 RCV001271056

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

SNV
Germline

Chr17:7674208

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA000398

rs_121912653

3 SubmittersRCV000013143 RCV001213570 RCV003237412

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

SNV
Germline/somatic

Chr17:7674216

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA000392

rs_28934571

11 SubmittersRCV000013145 RCV000013146 RCV000464372 RCV000579519 RCV001270276 RCV001562247 RCV000785491 RCV003996089 RCV004018617

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

SNV
Germline/somatic

Chr17:7675143

Conflicting classifications of pathogenicity

Hepatocellular carcinoma
Hereditary cancer-predisposing syndrome
Neoplasm of ovary
Li-Fraumeni syndrome 1
Li-Fraumeni syndrome
Squamous cell carcinoma

Criteria Provided
Conflicting Classifications

CA000222

rs_121912654

8 SubmittersRCV000013147 RCV000566103 RCV000785500 RCV001823095 RCV000794324 RCV003128570

NM_000546.6(TP53):c.725G>A (p.Cys242Tyr)

SNV
Germline/somatic

Chr17:7674238

Pathogenic/Likely pathogenic

Li-fraumeni-like syndrome
Hereditary cancer-predisposing syndrome
Gastric adenocarcinoma
Transitional cell carcinoma of the bladder
Squamous cell carcinoma of the head and neck
Hepatocellular carcinoma
Glioblastoma
B-cell chronic lymphocytic leukemia
Uterine carcinosarcoma
Lung adenocarcinoma
Li-Fraumeni syndrome
Squamous cell lung carcinoma
Neoplasm of ovary
Breast neoplasm
Carcinoma of esophagus
Li-Fraumeni syndrome 1
Condition: not provided
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA000361

rs_121912655

11 SubmittersRCV000013148 RCV000129809 RCV000419614 RCV000424935 RCV000432119 RCV000436867 RCV000442015 RCV000426292 RCV000430302 RCV000425602 RCV000231770 RCV000419041 RCV000785282 RCV000436295 RCV000440992 RCV002288484 RCV003314552 RCV002247332

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

SNV
Germline/somatic

Chr17:7674229

Pathogenic/Likely pathogenic

Li-Fraumeni syndrome 1
Hereditary cancer-predisposing syndrome
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.398T>C (p.Met133Thr)

SNV
Germline

Chr17:7675214

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA000158

rs_28934873

4 SubmittersRCV000013151 RCV000492130 RCV001383051

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

SNV
Germline/somatic

Chr17:7673806

Likely pathogenic

Li-Fraumeni syndrome 1
Hereditary cancer-predisposing syndrome
Squamous cell carcinoma of the skin
Medulloblastoma
Multiple myeloma
Li-Fraumeni syndrome
Breast neoplasm
Gastric adenocarcinoma
Squamous cell carcinoma of the head and neck
Transitional cell carcinoma of the bladder
Neoplasm of the large intestine
Ovarian serous cystadenocarcinoma
Pancreatic adenocarcinoma
Papillary renal cell carcinoma type 1
Lung adenocarcinoma
Malignant neoplasm of body of uterus

Criteria Provided
Multiple Submitters
No Conflicts

CA000430

rs_121912657

6 SubmittersRCV000013152 RCV000164988 RCV000427077 RCV000437706 RCV000443589 RCV001221969 RCV000420507 RCV000417682 RCV000426429 RCV000428361 RCV000431193 RCV000432989 RCV000434905 RCV000437100 RCV000439021 RCV000443570

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

SNV
Germline/somatic

Chr17:7674241

Pathogenic/Likely pathogenic

Hepatoblastoma
Bone osteosarcoma
Hereditary cancer-predisposing syndrome
Non-Hodgkin lymphoma
Brainstem glioma
Uterine carcinosarcoma
Papillary renal cell carcinoma, sporadic
Neoplasm of brain
Gallbladder carcinoma
Squamous cell carcinoma of the skin
Carcinoma of esophagus
Breast neoplasm
Malignant neoplasm of body of uterus
Malignant melanoma of skin
Neoplasm of the large intestine
Pancreatic adenocarcinoma
Ovarian serous cystadenocarcinoma
Squamous cell carcinoma of the head and neck
Lung adenocarcinoma
Glioblastoma
Transitional cell carcinoma of the bladder
Papillary renal cell carcinoma type 1
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1
Neoplasm of ovary
12 conditions
Lip and oral cavity carcinoma
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA000359

rs_28934573

11 SubmittersRCV000013153 RCV000013154 RCV000130168 RCV000418653 RCV000421750 RCV000426907 RCV000430665 RCV000433125 RCV000441622 RCV000417576 RCV000422867 RCV000423921 RCV000435867 RCV000429321 RCV000436959 RCV000438965 RCV000441398 RCV000426268 RCV000428255 RCV000434173 RCV000436527 RCV000444801 RCV000559355 RCV002288485 RCV000785290 RCV002496336 RCV001255673 RCV003114189

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

SNV
Germline/somatic

Chr17:7673776

Pathogenic/Likely pathogenic

Li-fraumeni-like syndrome
Li-Fraumeni syndrome 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.974G>T (p.Gly325Val)

SNV
Germline

Chr17:7673554

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA000516

rs_121912659

7 SubmittersRCV000013165 RCV000013166 RCV000131411 RCV000232570 RCV001508433

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

SNV
Germline/somatic

Chr17:7673781

Pathogenic/Likely pathogenic

Nasopharyngeal carcinoma
Hepatocellular carcinoma
Squamous cell carcinoma of the head and neck
Squamous cell carcinoma of the skin
Gastric adenocarcinoma
Malignant melanoma of skin
Neoplasm of brain
Ovarian serous cystadenocarcinoma
Transitional cell carcinoma of the bladder
Squamous cell lung carcinoma
Li-Fraumeni syndrome
Lung adenocarcinoma
Carcinoma of esophagus
Breast neoplasm
Acute myeloid leukemia
Nasopharyngeal neoplasm
Uterine carcinosarcoma
Small cell lung carcinoma
Neoplasm of uterine cervix
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1
Malignant tumor of urinary bladder

Criteria Provided
Multiple Submitters
No Conflicts

CA000445

rs_121912660

7 SubmittersRCV000013167 RCV000420086 RCV000424688 RCV000429718 RCV000432461 RCV000434981 RCV000440816 RCV000428404 RCV000431210 RCV000432716 RCV000198779 RCV000441513 RCV000445307 RCV000422958 RCV000423074 RCV000437764 RCV000441912 RCV000418209 RCV000422446 RCV002433452 RCV004018618 RCV003332081

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.451C>T (p.Pro151Ser)

SNV
Germline/somatic

Chr17:7675161

Pathogenic/Likely pathogenic

Breast adenocarcinoma
Condition: not provided
Hereditary cancer-predisposing syndrome
Neoplasm of the large intestine
Neoplasm of brain
Multiple myeloma
Lung adenocarcinoma
Uterine carcinosarcoma
Squamous cell lung carcinoma
Carcinoma of esophagus
Malignant neoplasm of body of uterus
Hepatocellular carcinoma
Pancreatic adenocarcinoma
Li-Fraumeni syndrome
Malignant melanoma of skin
Gastric adenocarcinoma
Ovarian serous cystadenocarcinoma
Adenoid cystic carcinoma
Squamous cell carcinoma of the head and neck
Breast neoplasm
Transitional cell carcinoma of the bladder
Neoplasm of ovary
Rhabdomyosarcoma
Li-Fraumeni syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA000200

rs_28934874

9 SubmittersRCV000013169 RCV000079203 RCV000219702 RCV000429847 RCV000435681 RCV000426058 RCV000427411 RCV000431507 RCV000438074 RCV000421928 RCV000422996 RCV000443020 RCV000440887 RCV000633355 RCV000420199 RCV000420869 RCV000424996 RCV000432585 RCV000433689 RCV000440140 RCV000443379 RCV000785532 RCV001257523 RCV002288487

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

SNV
Germline/somatic

Chr17:7674193

Conflicting classifications of pathogenicity

Li-fraumeni-like syndrome
Neoplasm of ovary
Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA000402

rs_28934577

4 SubmittersRCV000013171 RCV000785553 RCV000469142 RCV002399320

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.412G>C (p.Ala138Pro)

SNV
Germline

Chr17:7675200

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA000166

rs_28934875

3 SubmittersRCV000013175 RCV002326677 RCV000461233

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.566C>T (p.Ala189Val)

SNV
Germline

Chr17:7674965

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA000270

rs_121912665

11 SubmittersRCV000013182 RCV000132058 RCV000144671 RCV001192620 RCV001030736 RCV000536677 RCV003476892

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

SNV
Germline/somatic

Chr17:7674872

Pathogenic

Li-Fraumeni syndrome 1
Breast neoplasm
Malignant neoplasm of body of uterus
Neoplasm of the large intestine
Hepatocellular carcinoma
Pancreatic adenocarcinoma
Papillary renal cell carcinoma type 1
Malignant melanoma of skin
Ovarian serous cystadenocarcinoma
Transitional cell carcinoma of the bladder
Papillary renal cell carcinoma, sporadic
Glioblastoma
Gastric adenocarcinoma
Li-Fraumeni syndrome
Squamous cell lung carcinoma
Lung adenocarcinoma
Neoplasm of ovary
Squamous cell carcinoma of the head and neck
Prostate adenocarcinoma
Small cell lung carcinoma
Uterine carcinosarcoma
Neoplasm of brain
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA000314

rs_121912666

6 SubmittersRCV000013183 RCV000429097 RCV000435597 RCV000441465 RCV000423167 RCV000424238 RCV000417473 RCV000432708 RCV000425300 RCV000436486 RCV000441285 RCV000444276 RCV000445060 RCV000472593 RCV000418406 RCV000422874 RCV000785481 RCV000425801 RCV000428157 RCV000430581 RCV000433786 RCV000443214 RCV003162249

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

SNV
Germline

Chr17:7673766

Pathogenic

Adrenocortical carcinoma, pediatric
Choroid plexus carcinoma
Li-Fraumeni syndrome

Criteria Provided
Single Submitter

CA000463

rs_121912667

2 SubmittersRCV000013184 RCV000013185 RCV000813961

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

SNV
Germline

Chr17:7668434

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA000049

rs_78378222

7 SubmittersRCV000029217 RCV000412103 RCV000492363 RCV002262575 RCV003914864

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

SNV
Germline

Chr17:7676564

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA000106

rs_201382018

15 SubmittersRCV000034640 RCV000161016 RCV000226569 RCV000213044 RCV001030742 RCV001124310 RCV003924896

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

SNV
Germline

Chr17:7670669

Likely pathogenic

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

Reviewed By Expert Panel

CA000022

rs_397516434

7 SubmittersRCV000036529 RCV000255021 RCV000468537 RCV000492626 RCV003315555

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

SNV
Germline/somatic

Chr17:7674945

Pathogenic

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.637C>T (p.Arg213Ter)

SNV
Germline/somatic

Chr17:7674894

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA000301

rs_397516436

14 SubmittersRCV000036532 RCV000115730 RCV000144672 RCV000213050 RCV000785330 RCV001270263 RCV001270264 RCV001270265

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.920-2A>G

SNV
Germline/somatic

Chr17:7673610

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA000500

rs_397516439

10 SubmittersRCV000036537 RCV000132190 RCV000483617 RCV000785489 RCV001798102 RCV002288536

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

SNV
Germline

Chr17:7674859

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA000328

rs_267605076

5 SubmittersRCV000567974 RCV000786830 RCV000800846 RCV002288559

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

SNV
Germline/somatic

Chr17:7673728

Pathogenic

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

Reviewed By Expert Panel

CA000484

rs_201744589

7 SubmittersRCV000079204 RCV000216964 RCV000559898 RCV000785528 RCV001257516 RCV004019532

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

SNV
Germline/somatic

Chr17:7674944

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA000284

rs_483352697

5 SubmittersRCV000087172 RCV001024636 RCV001523825 RCV002514536

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

SNV
Germline/somatic

Chr17:7674227

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA000374

rs_483352695

7 SubmittersRCV000087173 RCV000161036 RCV000460370 RCV000785556 RCV002288585

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

SNV
Germline

Chr22:28695166

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA230682

rs_121908705

16 SubmittersRCV000114765 RCV000196666 RCV000160437 RCV000449435 RCV000515378 RCV001356532 RCV001798305 RCV004556718

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

SNV
Germline

Chr22:28694072

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA230684

rs_121908706

16 SubmittersRCV000114766 RCV000116000 RCV000206096 RCV003492448 RCV003387763

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

SNV
Germline

Chr17:7676196

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA000061

rs_144386518

13 SubmittersRCV000115715 RCV000122181 RCV000662515 RCV000586104 RCV001086750 RCV003492489 RCV003952551

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

SNV
Germline

Chr17:7676121

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA000083

rs_201717599

10 SubmittersRCV000115716 RCV000409540 RCV000679367 RCV001082818 RCV001796963 RCV003891612

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

SNV
Germline

Chr17:7675146

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA000214

rs_563378859

12 SubmittersRCV000115721 RCV000213051 RCV000232885 RCV000409094 RCV000764146 RCV002465516 RCV003467058

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

SNV
Germline/somatic

Chr17:7675140

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA000225

rs_587780068

11 SubmittersRCV000115723 RCV000508084 RCV000533951 RCV001255633 RCV002288596 RCV003483477

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

SNV
Germline/somatic

Chr17:7675124

Pathogenic

Condition: not provided
Uterine carcinosarcoma
Lung adenocarcinoma
Neoplasm of brain
Neoplasm of the large intestine
Breast neoplasm
Malignant melanoma of skin
Ovarian serous cystadenocarcinoma
Li-Fraumeni syndrome
Squamous cell lung carcinoma
Small cell lung carcinoma
Pancreatic adenocarcinoma
Carcinoma of esophagus
Squamous cell carcinoma of the head and neck
Hepatocellular carcinoma
Brainstem glioma
Hereditary cancer-predisposing syndrome
Neoplasm of ovary
Li-Fraumeni syndrome 1

Reviewed By Expert Panel

CA000240

rs_148924904

7 SubmittersRCV000115725 RCV000427698 RCV000434917 RCV000443742 RCV000419252 RCV000430191 RCV000434251 RCV000442798 RCV000526324 RCV000423543 RCV000424864 RCV000429510 RCV000435593 RCV000443833 RCV000419946 RCV000436926 RCV000492788 RCV000785334 RCV004019613

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.580C>T (p.Leu194Phe)

SNV
Germline/somatic

Chr17:7674951

Pathogenic/Likely pathogenic

Condition: not provided
Glioblastoma
Breast neoplasm
Ovarian serous cystadenocarcinoma
Neoplasm of uterine cervix
Pancreatic adenocarcinoma
Lung adenocarcinoma
Neoplasm of brain
Neoplasm of the large intestine
Hepatocellular carcinoma
Transitional cell carcinoma of the bladder
Squamous cell carcinoma of the head and neck
Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1
Adrenal cortex carcinoma

Criteria Provided
Multiple Submitters
No Conflicts

CA000278

rs_587780071

7 SubmittersRCV000115728 RCV000419908 RCV000417813 RCV000418414 RCV000421548 RCV000426684 RCV000428029 RCV000429595 RCV000439186 RCV000434383 RCV000436065 RCV000439843 RCV001377420 RCV002288599 RCV002288598 RCV003997297

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

SNV
Germline

Chr17:7674927

Conflicting classifications of pathogenicity

Condition: not provided
Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1
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.701A>G (p.Tyr234Cys)

SNV
Germline/somatic

Chr17:7674262

Pathogenic/Likely pathogenic

Condition: not provided
Li-Fraumeni syndrome
Glioblastoma
Hepatocellular carcinoma
Gastric adenocarcinoma
Small cell lung carcinoma
Neoplasm of the large intestine
Transitional cell carcinoma of the bladder
Prostate adenocarcinoma
Pancreatic adenocarcinoma
Ovarian serous cystadenocarcinoma
Squamous cell lung carcinoma
Hereditary cancer-predisposing syndrome
Breast neoplasm
Carcinoma of esophagus
Adrenal cortex carcinoma
Squamous cell carcinoma of the head and neck
Neoplasm of ovary
Li-Fraumeni syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA000337

rs_587780073

10 SubmittersRCV000115732 RCV000200601 RCV000420460 RCV000430670 RCV000444325 RCV000444475 RCV000425220 RCV000425854 RCV000432406 RCV000433924 RCV000435287 RCV000445147 RCV000492245 RCV000420651 RCV000422171 RCV000435258 RCV000438314 RCV000785536 RCV001808343

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

SNV
Germline

Chr17:7674226

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA000376

rs_587780074

3 SubmittersRCV000115734 RCV002381420 RCV001344441

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

SNV
Germline

Chr17:7676387

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA357868

rs_201753350

16 SubmittersRCV000115742 RCV000122173 RCV000123100 RCV000409871 RCV001030741 RCV000586196 RCV003492490 RCV003945046

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

SNV
Germline

Chr22:28734727

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA288250

rs_376995740

10 SubmittersRCV000197200 RCV000590166 RCV000722128 RCV001357979 RCV000776065 RCV003224152 RCV004542827

NM_007194.4(CHEK2):c.1111C>T (p.His371Tyr)

SNV
Germline/somatic

Chr22:28695858

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA288254

rs_531398630

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

NM_007194.4(CHEK2):c.1133C>T (p.Thr378Ile)

SNV
Germline

Chr22:28695836

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA288258

rs_587780167

13 SubmittersRCV000115984 RCV000231285 RCV000656835 RCV000764376 RCV001420894 RCV004529940

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

SNV
Germline

Chr22:28695754

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA288266

rs_587780171

10 SubmittersRCV000115989 RCV000199599 RCV000219945 RCV000764373

NM_007194.4(CHEK2):c.1270T>C (p.Tyr424His)

SNV
Germline

Chr22:28695232

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA288272

rs_139366548

24 SubmittersRCV000115993 RCV000197909 RCV000515214 RCV000590008 RCV001175351 RCV001355460 RCV004528802 RCV003492501 RCV004556723

NM_007194.4(CHEK2):c.1312G>T (p.Asp438Tyr)

SNV
Germline

Chr22:28695190

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA151527

rs_200050883

33 SubmittersRCV000115996 RCV000200982 RCV000199565 RCV000587890 RCV000515311 RCV001269492 RCV001294021 RCV001356041 RCV001798350 RCV003483481 RCV004528803 RCV003492502 RCV004556724

NM_007194.4(CHEK2):c.1420C>T (p.Arg474Cys)

SNV
Germline

Chr22:28694073

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA288280

rs_540635787

17 SubmittersRCV000115999 RCV000206044 RCV000234795 RCV000764370 RCV000588723 RCV002222396 RCV003493445

NM_007194.4(CHEK2):c.1427C>T (p.Thr476Met)

SNV
Germline

Chr22:28694066

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA288282

rs_142763740

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

NM_007194.4(CHEK2):c.1525C>T (p.Pro509Ser)

SNV
Germline

Chr22:28689152

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA288288

rs_587780179

14 SubmittersRCV000116004 RCV000200569 RCV000212472 RCV000764368 RCV000781300 RCV004528805 RCV003483482

NM_007194.4(CHEK2):c.1555C>T (p.Arg519Ter)

SNV
Germline

Chr22:28687974

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Breast and colorectal cancer, susceptibility to
Condition: not provided
Hereditary breast ovarian cancer syndrome
Familial cancer of breast
Li-Fraumeni syndrome 2
Breast and/or ovarian cancer
Gastric cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA288290

rs_200432447

18 SubmittersRCV000116005 RCV000210124 RCV000212474 RCV000589100 RCV000471222 RCV001705822 RCV001798352 RCV003162543

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

SNV
Germline

Chr22:28687973

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA288294

rs_587780180

28 SubmittersRCV000116007 RCV000198277 RCV000212476 RCV000515321 RCV000586195 RCV002291560 RCV001798353 RCV001357730 RCV003492503 RCV004529941

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

SNV
Germline

Chr22:28734532

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA288298

rs_141568342

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

NM_007194.4(CHEK2):c.320-5T>A

SNV
Germline

Chr22:28725372

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA231722

rs_121908700

22 SubmittersRCV000116011 RCV000119289 RCV000195943 RCV000212412 RCV001171460 RCV001798354 RCV003492504 RCV004556727 RCV004528807

NM_007194.4(CHEK2):c.349A>G (p.Arg117Gly)

SNV
Germline

Chr22:28725338

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Malignant tumor of breast
Breast cancer, susceptibility to
RECLASSIFIED - CDH1 POLYMORPHISM
Hereditary breast ovarian cancer syndrome
Li-Fraumeni syndrome 2
Breast and/or ovarian cancer
Predisposition to cancer
Li-Fraumeni syndrome 2
Bone osteosarcoma
Malignant tumor of prostate
Familial cancer of breast
Colorectal cancer
CHEK2-related cancer predisposition
CHEK2-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA288301

rs_28909982

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

NM_007194.4(CHEK2):c.444+1G>A

SNV
Germline

Chr22:28725242

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA288309

rs_121908698

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

NM_007194.4(CHEK2):c.479T>G (p.Ile160Arg)

SNV
Germline

Chr22:28725090

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA288310

rs_72552323

8 SubmittersRCV000116019 RCV000464571 RCV000766748 RCV001292859 RCV003444201

NM_007194.4(CHEK2):c.480A>G (p.Ile160Met)

SNV
Germline

Chr22:28725089

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA288312

rs_575910805

20 SubmittersRCV000116020 RCV000586231 RCV001005035 RCV001798357 RCV001549277 RCV004529942 RCV003387765 RCV004556731

NM_007194.4(CHEK2):c.917G>C (p.Gly306Ala)

SNV
Germline

Chr22:28699929

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Hereditary breast ovarian cancer syndrome
Li-Fraumeni syndrome 2
Malignant tumor of breast
Carcinoma of pancreas
Colonic neoplasm
not specified
CHEK2-related cancer predisposition
Inherited breast cancer and ovarian cancer

Criteria Provided
Conflicting Classifications

CA288331

rs_587780192

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

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

SNV
Germline

Chr22:28734664

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA158093

rs_536907995

21 SubmittersRCV000120552 RCV000255024 RCV000579628 RCV000458969 RCV001356492 RCV001640105 RCV003992188 RCV004584196

NM_007194.4(CHEK2):c.157T>A (p.Ser53Thr)

SNV
Germline

Chr22:28734565

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA158095

rs_371657037

12 SubmittersRCV000120553 RCV000132037 RCV000231176 RCV000765627 RCV000766741 RCV004556735

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

SNV
Germline

Chr17:7674926

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA000289

rs_587778719

7 SubmittersRCV000122175 RCV000459232 RCV000567735 RCV001030735 RCV001358628

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

SNV
Germline/somatic

Chr17:7674893

Pathogenic

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_007194.4(CHEK2):c.283C>T (p.Arg95Ter)

SNV
Germline

Chr22:28734439

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA163528

rs_587781269

20 SubmittersRCV000128901 RCV000215973 RCV000232015 RCV001002335 RCV001354537 RCV002225419 RCV002505102 RCV004556738 RCV003162571

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

SNV
Germline/somatic

Chr17:7675190

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Pancreatic adenocarcinoma
Breast neoplasm
Neoplasm of brain
Multiple myeloma
Squamous cell lung carcinoma
Malignant neoplasm of body of uterus
Lung adenocarcinoma
Prostate adenocarcinoma
Acute myeloid leukemia
Squamous cell carcinoma of the head and neck
Papillary renal cell carcinoma type 1
Neoplasm of the large intestine
Li-Fraumeni syndrome
Neoplasm of ovary
Condition: not provided
Li-Fraumeni syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA000174

rs_587781288

7 SubmittersRCV000128975 RCV000418811 RCV000427674 RCV000437920 RCV000439333 RCV000427068 RCV000428004 RCV000429076 RCV000444430 RCV000436530 RCV000417795 RCV000423419 RCV000435449 RCV000472876 RCV000785510 RCV001582600 RCV002288619

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

SNV
Germline/somatic

Chr17:7673776

Pathogenic

Hereditary cancer-predisposing syndrome
Pancreatic adenocarcinoma
Lung adenocarcinoma
Carcinoma of esophagus
Squamous cell carcinoma of the skin
Transitional cell carcinoma of the bladder
Papillary renal cell carcinoma type 1
Prostate adenocarcinoma
Neoplasm of brain
Glioblastoma
Breast neoplasm
Squamous cell carcinoma of the head and neck
Malignant neoplasm of body of uterus
Gastric adenocarcinoma
Squamous cell lung carcinoma
Ovarian serous cystadenocarcinoma
Non-Hodgkin lymphoma
Hepatocellular carcinoma
Malignant melanoma of skin
Neoplasm of the large intestine
Neoplasm of ovary
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA000453

rs_28934574

5 SubmittersRCV000129010 RCV000422367 RCV000422134 RCV000422747 RCV000435503 RCV000437895 RCV000440653 RCV000430047 RCV000419993 RCV000425179 RCV000437219 RCV000442540 RCV000430393 RCV000431764 RCV000432433 RCV000442627 RCV000419333 RCV000427647 RCV000440446 RCV000445294 RCV000785299 RCV001380073 RCV002288620

NM_007194.4(CHEK2):c.755G>A (p.Ser252Asn)

SNV
Germline

Chr22:28711946

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA163957

rs_587781379

11 SubmittersRCV000129204 RCV000214585 RCV000227256 RCV000765620 RCV001030685 RCV001201286

NM_007194.4(CHEK2):c.727T>C (p.Cys243Arg)

SNV
Germline

Chr22:28711974

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA294007

rs_141776984

10 SubmittersRCV000129205 RCV000205087 RCV000590667 RCV001292616 RCV001731481

NM_007194.4(CHEK2):c.1451C>T (p.Pro484Leu)

SNV
Germline

Chr22:28694042

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA294010

rs_564605612

15 SubmittersRCV000129213 RCV000212468 RCV000206213 RCV000590757 RCV001798435 RCV002478384 RCV004528849

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

SNV
Germline

Chr17:7674889

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA000305

rs_587781386

9 SubmittersRCV000129218 RCV000195927 RCV000410083 RCV001283869 RCV002267869

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

SNV
Germline

Chr22:28694070

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA294041

rs_370968992

15 SubmittersRCV000129382 RCV000206734 RCV000212464 RCV000781308 RCV001356630 RCV004528850 RCV002483259

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

SNV
Germline/somatic

Chr17:7676011

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA000130

rs_121912658

5 SubmittersRCV000129457 RCV000213049 RCV000696142 RCV000785522 RCV004019730

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

SNV
Germline

Chr22:28695794

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA164560

rs_373073383

15 SubmittersRCV000129508 RCV000206654 RCV000589481 RCV001175352 RCV001357703 RCV003493452 RCV003483495

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

SNV
Germline/somatic

Chr17:7673778

Pathogenic

Hereditary cancer-predisposing syndrome
Neuroblastoma
Squamous cell carcinoma of the head and neck
Transitional cell carcinoma of the bladder
Glioblastoma
Squamous cell carcinoma of the skin
Breast neoplasm
Malignant neoplasm of body of uterus
Squamous cell lung carcinoma
Papillary renal cell carcinoma type 1
Multiple myeloma
Lung adenocarcinoma
B-cell chronic lymphocytic leukemia
Uterine carcinosarcoma
Pancreatic adenocarcinoma
Hepatocellular carcinoma
Gastric adenocarcinoma
Malignant melanoma of skin
Ovarian serous cystadenocarcinoma
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA000450

rs_587781525

7 SubmittersRCV000129516 RCV000425885 RCV000426980 RCV000428043 RCV000434395 RCV000435472 RCV000436592 RCV000418481 RCV000423760 RCV000431187 RCV000423959 RCV000433596 RCV000441016 RCV000442068 RCV000438583 RCV000442813 RCV000418257 RCV000429146 RCV000436807 RCV000633367 RCV002288626 RCV003237737

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

SNV
Germline

Chr17:7676032

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA000124

rs_587781642

4 SubmittersRCV000129770 RCV000633376 RCV002288629

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

SNV
Germline/somatic

Chr17:7669692

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA000038

rs_587781664

6 SubmittersRCV000129814 RCV000206779 RCV000213070 RCV002288631

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

SNV
Germline/somatic

Chr17:7673609

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA000499

rs_587781702

7 SubmittersRCV000129871 RCV000421521 RCV000785548 RCV001235868 RCV002288632

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

SNV
Germline

Chr22:28734506

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA165273

rs_587781705

5 SubmittersRCV000129876 RCV000763478 RCV001247758

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

SNV
Germline

Chr17:7676244

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Conflicting Classifications

CA000052

rs_587781767

3 SubmittersRCV000129995 RCV002288633

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

SNV
Germline

Chr17:7669671

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA000040

rs_587781858

4 SubmittersRCV000130166 RCV001313040 RCV003474760

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

SNV
Germline/somatic

Chr17:7675208

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Carcinoma of esophagus
Transitional cell carcinoma of the bladder
Gastric adenocarcinoma
Hepatocellular carcinoma
Pancreatic adenocarcinoma
Prostate adenocarcinoma
Ovarian serous cystadenocarcinoma
Breast neoplasm
Squamous cell lung carcinoma
Lung adenocarcinoma
Condition: not provided
Adrenal cortex carcinoma
Neoplasm of the large intestine
Neoplasm of brain
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Conflicting Classifications

CA000160

rs_587781991

7 SubmittersRCV000130396 RCV000419337 RCV000421166 RCV000429447 RCV000431855 RCV000419825 RCV000422242 RCV000430048 RCV000437052 RCV000438381 RCV000439440 RCV000581322 RCV000423651 RCV000428748 RCV000444676 RCV001069143 RCV004019738

NM_000546.6(TP53):c.799C>T (p.Arg267Trp)

SNV
Germline/somatic

Chr17:7673821

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA000423

rs_55832599

17 SubmittersRCV000130398 RCV000413074 RCV000538977 RCV000763416 RCV001255676 RCV002247507 RCV002288637 RCV003149899 RCV003460927

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

SNV
Germline

Chr17:7673761

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA000466

rs_587782006

3 SubmittersRCV000130426 RCV000813960 RCV002288638

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

SNV
Germline

Chr22:28695800

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA166521

rs_200928781

15 SubmittersRCV000130486 RCV000222009 RCV000206869 RCV001175336 RCV001787089 RCV003448269 RCV001270242 RCV001355927

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

SNV
Germline

Chr22:28689143

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA166627

rs_17882942

10 SubmittersRCV000130543 RCV000197078 RCV000587712 RCV000764367

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.248C>A (p.Ala83Glu)

SNV
Germline

Chr17:7676121

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA000082

rs_201717599

3 SubmittersRCV000130694 RCV001303642 RCV002288640

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

SNV
Germline

Chr17:7675139

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Condition: not provided
Li-Fraumeni syndrome 1
Rhabdomyosarcoma
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.256G>A (p.Ala86Thr)

SNV
Germline

Chr17:7676113

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA000088

rs_587782148

6 SubmittersRCV000130712 RCV000478688 RCV000633343 RCV002247510

NM_007194.4(CHEK2):c.556A>C (p.Asn186His)

SNV
Germline

Chr22:28725013

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA294225

rs_146198085

22 SubmittersRCV000130733 RCV000198345 RCV000589669 RCV000515236 RCV000855592 RCV001356295 RCV002225433 RCV004532565

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

SNV
Germline/somatic

Chr17:7675178

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA000188

rs_587782197

4 SubmittersRCV000130857 RCV000785265 RCV001232651 RCV004019742

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

SNV
Germline

Chr17:7670637

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA000027

rs_587782237

3 SubmittersRCV000130938 RCV002288643 RCV001229943

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

SNV
Germline

Chr17:7674193

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome

Criteria Provided
Conflicting Classifications

CA000404

rs_28934577

2 SubmittersRCV000130981 RCV001233712

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

SNV
Germline/somatic

Chr17:7673704

Pathogenic

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Head and neck neoplasm
Neoplasm of the large intestine
Condition: not provided
Neoplasm of ovary
Lip and oral cavity carcinoma
Li-Fraumeni syndrome 1
Gastric cancer
Lung adenocarcinoma
Hereditary breast ovarian cancer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA000495

rs_121913344

18 SubmittersRCV000130997 RCV000232963 RCV000422102 RCV000428901 RCV000356380 RCV000785333 RCV001255680 RCV001310214 RCV003162584 RCV003322599 RCV002307404

NM_007194.4(CHEK2):c.1053G>T (p.Glu351Asp)

SNV
Germline

Chr22:28696943

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Li-Fraumeni syndrome 2
Malignant tumor of breast
CHEK2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA167545

rs_587782268

15 SubmittersRCV000131011 RCV000456353 RCV000481469 RCV001292666 RCV001354674 RCV004556744

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

SNV
Germline

Chr17:7670716

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA000528

rs_587782272

7 SubmittersRCV000131124 RCV000786811 RCV001380070 RCV002288645 RCV003992194

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

SNV
Germline/somatic

Chr17:7674257

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lung adenocarcinoma
Pancreatic adenocarcinoma
Squamous cell carcinoma of the skin
Breast neoplasm
Neoplasm of brain
Ovarian serous cystadenocarcinoma
Squamous cell carcinoma of the head and neck
Prostate adenocarcinoma
Squamous cell lung carcinoma
Gastric adenocarcinoma
Neoplasm of the large intestine
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Conflicting Classifications

CA000344

rs_587782289

4 SubmittersRCV000131168 RCV000421075 RCV000418648 RCV000428270 RCV000419715 RCV000429365 RCV000435853 RCV000436923 RCV000438979 RCV000440030 RCV000421570 RCV000430428 RCV001214095 RCV004019744

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

SNV
Germline/somatic

Chr17:7674217

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Medulloblastoma
Hepatocellular carcinoma
Pancreatic adenocarcinoma
Small cell lung carcinoma
Squamous cell carcinoma of the head and neck
Prostate adenocarcinoma
Carcinoma of esophagus
Malignant neoplasm of body of uterus
Lung adenocarcinoma
Squamous cell carcinoma of the skin
Uterine carcinosarcoma
Gastric adenocarcinoma
Ovarian serous cystadenocarcinoma
Glioblastoma
Squamous cell lung carcinoma
Condition: not provided
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Conflicting Classifications

CA000391

rs_587782329

6 SubmittersRCV000131246 RCV000420497 RCV000437502 RCV000438874 RCV000439985 RCV000440358 RCV000445113 RCV000427275 RCV000429077 RCV000430131 RCV000421887 RCV000419499 RCV000419850 RCV000421647 RCV000429319 RCV000431473 RCV000724753 RCV001857457 RCV002288647

NM_007194.4(CHEK2):c.931G>A (p.Asp311Asn)

SNV
Germline

Chr22:28699915

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA294339

rs_587782347

14 SubmittersRCV000131287 RCV000212441 RCV000231753 RCV002271417 RCV002483267

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_007194.4(CHEK2):c.319+2T>A

SNV
Germline

Chr22:28734401

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Li-Fraumeni syndrome 2
Bone osteosarcoma
Malignant tumor of prostate
Familial cancer of breast
Breast cancer, susceptibility to
RECLASSIFIED - CDH1 POLYMORPHISM
Malignant tumor of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA294375

rs_587782401

16 SubmittersRCV000131434 RCV000212411 RCV000515447 RCV000545158 RCV001258067 RCV003492621

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

SNV
Germline

Chr17:7670596

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome

Criteria Provided
Conflicting Classifications

CA000037

rs_77881630

2 SubmittersRCV000131467 RCV002514746

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

SNV
Germline

Chr22:28711994

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA294400

rs_587782471

15 SubmittersRCV000131577 RCV000212433 RCV000199653 RCV000791342 RCV000586622 RCV003153427 RCV003389239

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

SNV
Germline

Chr22:28689167

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA168459

rs_587782489

10 SubmittersRCV000131614 RCV000198676 RCV000214263 RCV000764369 RCV001251282

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

SNV
Germline

Chr22:28695753

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA294433

rs_587782527

16 SubmittersRCV000131715 RCV000228975 RCV000515410 RCV000855593 RCV000587346 RCV001356488 RCV003492628 RCV004532574

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.1079G>T (p.Gly360Val)

SNV
Germline

Chr17:7670630

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA000030

rs_35993958

9 SubmittersRCV000131746 RCV000195550 RCV001284721 RCV002267882

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.19G>C (p.Asp7His)

SNV
Germline

Chr17:7676576

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA000065

rs_587782646

5 SubmittersRCV000132048 RCV001364215 RCV001559782 RCV002288651

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

SNV
Germline/somatic

Chr17:7670699

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA000015

rs_121912664

5 SubmittersRCV000132259 RCV000785297 RCV002288655 RCV003237742

NM_000546.6(TP53):c.1015G>A (p.Glu339Lys)

SNV
Germline

Chr17:7670694

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA000017

rs_17882252

11 SubmittersRCV000132285 RCV000254694 RCV001081368 RCV001127282 RCV001030734 RCV003891671

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

SNV
Germline

Chr17:7676198

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA000060

rs_587782776

6 SubmittersRCV000132310 RCV000411346 RCV002514753

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

SNV
Germline

Chr17:7673833

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA000419

rs_72661119

9 SubmittersRCV000132389 RCV000679373 RCV000474969 RCV000663318

NM_007194.4(CHEK2):c.592+3A>T

SNV
Germline

Chr22:28724974

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Familial cancer of breast
Li-Fraumeni syndrome 2
Breast carcinoma
Hereditary breast ovarian cancer syndrome
Malignant tumor of prostate
CHEK2-related disorder
Malignant tumor of breast

Criteria Provided
Conflicting Classifications

CA294532

rs_587782849

24 SubmittersRCV000132447 RCV000228472 RCV000656830 RCV001171462 RCV001554293 RCV002468934 RCV003334383 RCV004532583 RCV004551270

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

SNV
Germline

Chr17:7674866

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA000317

rs_146340390

15 SubmittersRCV000148907 RCV000161032 RCV000213056 RCV000411498 RCV000989715 RCV001002287 RCV001798464 RCV003905279

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

SNV
Germline/somatic

Chr17:7673781

Conflicting classifications of pathogenicity

Malignant tumor of prostate
Malignant melanoma of skin
Small cell lung carcinoma
Nasopharyngeal neoplasm
Lung adenocarcinoma
Ovarian serous cystadenocarcinoma
Squamous cell carcinoma of the skin
Acute myeloid leukemia
Breast neoplasm
Hepatocellular carcinoma
Transitional cell carcinoma of the bladder
Squamous cell carcinoma of the head and neck
Neoplasm of uterine cervix
Gastric adenocarcinoma
Uterine carcinosarcoma
Carcinoma of esophagus
Neoplasm of brain
Squamous cell lung carcinoma
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Conflicting Classifications

CA000447

rs_121912660

4 SubmittersRCV000149052 RCV000417523 RCV000426315 RCV000435871 RCV000437418 RCV000419067 RCV000438665 RCV000419744 RCV000438915 RCV000425612 RCV000421544 RCV000442289 RCV000427666 RCV000429336 RCV000445006 RCV000434436 RCV000428657 RCV000434213 RCV000633330 RCV004019784

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

SNV
Germline/somatic

Chr17:7673823

Pathogenic/Likely pathogenic

Malignant tumor of prostate
Condition: not provided
Squamous cell carcinoma of the skin
Malignant melanoma of skin
Breast neoplasm
Small cell lung carcinoma
Hepatocellular carcinoma
Malignant neoplasm of body of uterus
Neoplasm of the large intestine
Squamous cell lung carcinoma
Neoplasm of brain
Uterine carcinosarcoma
Carcinoma of esophagus
B-cell chronic lymphocytic leukemia
Pancreatic adenocarcinoma
Lung adenocarcinoma
Ovarian serous cystadenocarcinoma
Squamous cell carcinoma of the head and neck
Glioblastoma
Transitional cell carcinoma of the bladder
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Neoplasm of ovary
Li-Fraumeni syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA000421

rs_193920774

10 SubmittersRCV000149050 RCV000255749 RCV000422957 RCV000423995 RCV000433054 RCV000434273 RCV000441726 RCV000444033 RCV000418979 RCV000444063 RCV000424505 RCV000429269 RCV000429720 RCV000436020 RCV000440516 RCV000445061 RCV000418383 RCV000421625 RCV000430374 RCV000431935 RCV000492556 RCV000709403 RCV000785456 RCV002288661

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

SNV
Germline/somatic

Chr17:7674249

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA000353

rs_193920789

3 SubmittersRCV000149049 RCV000203823 RCV002362784

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

SNV
Germline/somatic

Chr17:7675131

Pathogenic/Likely pathogenic

Malignant tumor of prostate
Condition: not provided
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
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.722C>G (p.Ser241Cys)

SNV
Germline/somatic

Chr17:7674241

Pathogenic/Likely pathogenic

Li-Fraumeni syndrome
Condition: not provided
Gallbladder carcinoma
Papillary renal cell carcinoma type 1
Neoplasm of the large intestine
Non-Hodgkin lymphoma
Breast neoplasm
Squamous cell carcinoma of the head and neck
Ovarian serous cystadenocarcinoma
Brainstem glioma
Malignant neoplasm of body of uterus
Carcinoma of esophagus
Glioblastoma
Neoplasm of brain
Lung adenocarcinoma
Papillary renal cell carcinoma, sporadic
Transitional cell carcinoma of the bladder
Squamous cell carcinoma of the skin
Uterine carcinosarcoma
Pancreatic adenocarcinoma
Malignant melanoma of skin
Hereditary cancer-predisposing syndrome
Neoplasm of ovary
Li-Fraumeni syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA000357

rs_28934573

8 SubmittersRCV000154419 RCV000236210 RCV000422573 RCV000426195 RCV000429339 RCV000438488 RCV000439590 RCV000442616 RCV000419417 RCV000430604 RCV000431373 RCV000437089 RCV000417965 RCV000420364 RCV000425780 RCV000426900 RCV000428236 RCV000432564 RCV000438178 RCV000439098 RCV000442642 RCV000492778 RCV000785321 RCV002288664

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

SNV
Germline

Chr17:7670699

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA000014

rs_121912664

5 SubmittersRCV000154527 RCV001187412 RCV002288666

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.993+13G>C

SNV
Germline

Chr17:7673522

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA000522

rs_369599972

5 SubmittersRCV000161051 RCV000409061 RCV000773086 RCV002053941 RCV003149985

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

SNV
Germline/somatic

Chr17:7673778

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Uterine carcinosarcoma
Squamous cell carcinoma of the skin
Pancreatic adenocarcinoma
Papillary renal cell carcinoma type 1
Multiple myeloma
Squamous cell carcinoma of the head and neck
Breast neoplasm
Malignant neoplasm of body of uterus
Squamous cell lung carcinoma
B-cell chronic lymphocytic leukemia
Ovarian serous cystadenocarcinoma
Transitional cell carcinoma of the bladder
Glioblastoma
Lung adenocarcinoma
Malignant melanoma of skin
Gastric adenocarcinoma
Hepatocellular carcinoma
Neuroblastoma
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA000452

rs_587781525

5 SubmittersRCV000161072 RCV000215048 RCV000418100 RCV000428503 RCV000426125 RCV000434194 RCV000432892 RCV000435682 RCV000435739 RCV000440916 RCV000442104 RCV000417569 RCV000423186 RCV000425401 RCV000423894 RCV000431328 RCV000433464 RCV000438736 RCV000443096 RCV000441595 RCV000799325 RCV002288706

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

SNV
Germline

Chr17:7674169

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA000411

rs_17881780

6 SubmittersRCV000161049 RCV000580153 RCV000663058 RCV002053940

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

SNV
Germline

Chr17:7674211

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA000396

rs_730882027

4 SubmittersRCV000161070 RCV003621508 RCV004019947 RCV004019946

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

SNV
Germline/somatic

Chr17:7674212

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA000394

rs_730882007

6 SubmittersRCV000161037 RCV000492548 RCV000785277 RCV002280104 RCV002288694

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

SNV
Germline

Chr17:7674235

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA000365

rs_730882006

4 SubmittersRCV000161035 RCV000222280 RCV000686581 RCV003462110

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

SNV
Germline/somatic

Chr17:7674250

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Condition: not provided
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.709A>G (p.Met237Val)

SNV
Germline/somatic

Chr17:7674254

Conflicting classifications of pathogenicity

not specified
Li-Fraumeni syndrome
Brainstem glioma
Malignant neoplasm of body of uterus
Gastric adenocarcinoma
Ovarian serous cystadenocarcinoma
Neoplasm of the large intestine
Squamous cell carcinoma of the head and neck
Breast neoplasm
Carcinoma of esophagus
Lung adenocarcinoma
Pancreatic adenocarcinoma
Squamous cell lung carcinoma
Neoplasm of brain
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Conflicting Classifications

CA000348

rs_730882004

6 SubmittersRCV000161033 RCV000200500 RCV000421083 RCV000421733 RCV000430423 RCV000431774 RCV000439317 RCV000439996 RCV000419726 RCV000422107 RCV000429307 RCV000434187 RCV000443583 RCV000443569 RCV001526334 RCV002288692

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

SNV
Germline

Chr17:7674256

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA000346

rs_730882026

3 SubmittersRCV000161069 RCV001373091 RCV002288705 RCV002288704

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

SNV
Germline/somatic

Chr17:7674885

Pathogenic/Likely pathogenic

Condition: not provided
Li-Fraumeni syndrome
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.524G>T (p.Arg175Leu)

SNV
Germline

Chr17:7675088

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA000252

rs_28934578

3 SubmittersRCV000161065 RCV000810785 RCV002288703

NM_000546.6(TP53):c.493C>T (p.Gln165Ter)

SNV
Germline/somatic

Chr17:7675119

Pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Neoplasm of ovary
Squamous cell carcinoma of the head and neck
Lip and oral cavity carcinoma
Familial cancer of breast
Li-Fraumeni syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA000243

rs_730882001

10 SubmittersRCV000161028 RCV000219202 RCV000633373 RCV000785484 RCV001270262 RCV001255634 RCV002272147 RCV002288688

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.266C>T (p.Pro89Leu)

SNV
Germline

Chr17:7676103

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA000089

rs_730881994

6 SubmittersRCV000161019 RCV000560488 RCV001016264 RCV002288683

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

SNV
Germline

Chr17:7676281

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA000518

rs_202217267

12 SubmittersRCV000161046 RCV000195920 RCV000410371 RCV000580612 RCV001079867

NM_007194.4(CHEK2):c.793-1G>A

SNV
Germline

Chr22:28710060

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA299073

rs_730881687

11 SubmittersRCV000160429 RCV000214915 RCV000464029 RCV002498796

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

SNV
Germline

Chr22:28725278

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA299110

rs_730881701

17 SubmittersRCV000160452 RCV000229303 RCV000254656 RCV000763477 RCV001007871 RCV001526967 RCV003162676 RCV004556752

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

SNV
Germline

Chr17:7674882

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA000309

rs_35163653

2 SubmittersRCV000161936 RCV002354406

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

SNV
Germline

Chr17:7669656

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA000043

rs_749061599

5 SubmittersRCV000166233 RCV000559034 RCV002288759

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

SNV
Germline

Chr17:7670631

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA000028

rs_786203298

7 SubmittersRCV000166545 RCV001241003 RCV001567714 RCV003416041 RCV003987388

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

SNV
Germline

Chr17:7670709

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome

Criteria Provided
Conflicting Classifications

CA000006

rs_730882028

2 SubmittersRCV000165615 RCV002516487

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

SNV
Germline

Chr17:7673613

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA000502

rs_34361146

7 SubmittersRCV000164926 RCV000587880 RCV001087552 RCV001283870

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

SNV
Germline/somatic

Chr17:7673764

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Squamous cell carcinoma of the head and neck
Acute myeloid leukemia
Neoplasm of the large intestine
Transitional cell carcinoma of the bladder
Gastric adenocarcinoma
Breast neoplasm
Pancreatic adenocarcinoma
Carcinoma of esophagus
Hepatocellular carcinoma
Malignant melanoma of skin
Neoplasm of brain
Vulvar adenocarcinoma of mammary gland type
Squamous cell carcinoma of the skin
Small cell lung carcinoma
Ovarian serous cystadenocarcinoma
Lung adenocarcinoma
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA000464

rs_786201059

7 SubmittersRCV000162466 RCV000255724 RCV000420427 RCV000422231 RCV000424388 RCV000431629 RCV000426778 RCV000437639 RCV000419251 RCV000421987 RCV000427820 RCV000431848 RCV000432936 RCV000506006 RCV000437453 RCV000439250 RCV000443333 RCV000443492 RCV000466372 RCV002288710

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.827C>G (p.Ala276Gly)

SNV
Germline

Chr17:7673793

Pathogenic

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA000436

rs_786202082

2 SubmittersRCV000164718 RCV003765021

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

SNV
Germline/somatic

Chr17:7673806

Pathogenic

Hereditary cancer-predisposing syndrome
Papillary renal cell carcinoma type 1
Transitional cell carcinoma of the bladder
Squamous cell carcinoma of the skin
Squamous cell carcinoma of the head and neck
Lung adenocarcinoma
Medulloblastoma
Malignant neoplasm of body of uterus
Neoplasm of the large intestine
Breast neoplasm
Li-Fraumeni syndrome
Pancreatic adenocarcinoma
Ovarian serous cystadenocarcinoma
Gastric adenocarcinoma
Multiple myeloma
Neoplasm of ovary
Li-Fraumeni syndrome 1
Condition: not provided

Reviewed By Expert Panel

CA000427

rs_121912657

8 SubmittersRCV000165304 RCV000418746 RCV000425268 RCV000426406 RCV000432177 RCV000436402 RCV000436602 RCV000434621 RCV000443071 RCV000443052 RCV000457645 RCV000424351 RCV000424542 RCV000434295 RCV000441086 RCV000785341 RCV001527085 RCV002243833

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

SNV
Germline/somatic

Chr17:7674223

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Neoplasm of ovary
Li-Fraumeni syndrome

Criteria Provided
Conflicting Classifications

CA000378

rs_786201762

3 SubmittersRCV000164218 RCV000785503 RCV001338713

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

SNV
Germline

Chr17:7674227

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome

Criteria Provided
Conflicting Classifications

CA000373

rs_483352695

2 SubmittersRCV000166380 RCV002516500

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

SNV
Germline/somatic

Chr17:7674953

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Prostate adenocarcinoma
Transitional cell carcinoma of the bladder
Breast neoplasm
Squamous cell carcinoma of the head and neck
Uterine carcinosarcoma
B-cell chronic lymphocytic leukemia
Neoplasm of brain
Hepatocellular carcinoma
Brainstem glioma
Pancreatic adenocarcinoma
Carcinoma of esophagus
Papillary renal cell carcinoma, sporadic
Small cell lung carcinoma
Ovarian serous cystadenocarcinoma
Lung adenocarcinoma
Neoplasm of the large intestine
Malignant neoplasm of body of uterus
Acute myeloid leukemia
Squamous cell lung carcinoma
Gastric adenocarcinoma
Li-Fraumeni syndrome
Neoplasm of ovary
Li-Fraumeni syndrome 1

Criteria Provided
Conflicting Classifications

CA000276

rs_786201838

5 SubmittersRCV000165315 RCV000422830 RCV000427615 RCV000432479 RCV000420523 RCV000437609 RCV000421777 RCV000441921 RCV000443734 RCV000428359 RCV000437660 RCV000419701 RCV000438323 RCV000421145 RCV000438373 RCV000439007 RCV000431198 RCV000426960 RCV000433537 RCV000430839 RCV000444673 RCV000697802 RCV000785542 RCV004019975

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

SNV
Germline/somatic

Chr17:7674953

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
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.487T>G (p.Tyr163Asp)

SNV
Germline/somatic

Chr17:7675125

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Small cell lung carcinoma
Neoplasm of the large intestine
Carcinoma of esophagus
Breast neoplasm
Pancreatic adenocarcinoma
Ovarian serous cystadenocarcinoma
Uterine carcinosarcoma
Neoplasm of brain
Hepatocellular carcinoma
Brainstem glioma
Lung adenocarcinoma
Malignant melanoma of skin
Squamous cell carcinoma of the head and neck
Squamous cell lung carcinoma
Li-Fraumeni syndrome

Criteria Provided
Conflicting Classifications

CA000239

rs_786203436

3 SubmittersRCV000166739 RCV000417885 RCV000430982 RCV000434903 RCV000426124 RCV000441262 RCV000444147 RCV000420162 RCV000432709 RCV000420721 RCV000435516 RCV000424608 RCV000425235 RCV000433509 RCV000443587 RCV001850353

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

SNV
Germline

Chr17:7675148

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA000210

rs_786202752

6 SubmittersRCV000165724 RCV000986051 RCV000804037 RCV001192618

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

SNV
Germline/somatic

Chr17:7675181

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hepatocellular carcinoma
Squamous cell carcinoma of the head and neck
Transitional cell carcinoma of the bladder
Gastric adenocarcinoma
Lung adenocarcinoma
Malignant neoplasm of body of uterus
Ovarian serous cystadenocarcinoma
Breast neoplasm
Neoplasm of ovary
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Conflicting Classifications

CA000182

rs_786203071

5 SubmittersRCV000166212 RCV000423271 RCV000439592 RCV000422986 RCV000419105 RCV000433977 RCV000428907 RCV000440211 RCV000439853 RCV000785331 RCV001850338 RCV002288758

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.376-2A>G

SNV
Germline/somatic

Chr17:7675238

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA000146

rs_786202799

8 SubmittersRCV000165794 RCV000480344 RCV000554039 RCV000785343 RCV001374443 RCV002288750

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

SNV
Germline/somatic

Chr17:7675995

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
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.305C>T (p.Thr102Ile)

SNV
Germline

Chr17:7676064

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA000098

rs_786202717

5 SubmittersRCV000165667 RCV000819967 RCV002288749

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

SNV
Germline

Chr17:7676269

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA000012

rs_786201968

6 SubmittersRCV000165887 RCV000205889 RCV000483753 RCV002288753

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

SNV
Germline

Chr17:7676269

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA000011

rs_786201968

6 SubmittersRCV000164526 RCV000471959 RCV001582646 RCV002288737

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

SNV
Germline

Chr17:7676395

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA000449

rs_786202289

4 SubmittersRCV000165025 RCV001850309 RCV002288739 RCV004567258

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

SNV
Germline

Chr17:7676529

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA000323

rs_748527030

7 SubmittersRCV000163369 RCV000196762 RCV000483133 RCV000989728 RCV001174848

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

SNV
Germline/somatic

Chr17:7676532

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA000304

rs_1800369

12 SubmittersRCV000163241 RCV000196365 RCV001270281 RCV003492674 RCV000430891 RCV000590622

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

SNV
Germline

Chr17:7674942

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA000285

rs_786204041

5 SubmittersRCV000167874 RCV001024656 RCV002288770

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

SNV
Germline

Chr17:7674980

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA000269

rs_794727781

5 SubmittersRCV000179330 RCV001046951 RCV002288782 RCV002288783

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

SNV
Germline/somatic

Chr17:7670684

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA337802

rs_375338359

7 SubmittersRCV000198319 RCV000213216 RCV000785264 RCV001538204 RCV002288808

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

SNV
Germline

Chr17:7673555

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA335679

rs_863224500

3 SubmittersRCV000195434 RCV002286715 RCV002372184

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

SNV
Germline

Chr17:7673564

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA336073

rs_863224687

3 SubmittersRCV000195973 RCV000573146 RCV002288818

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

SNV
Germline

Chr17:7673696

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA338258

rs_766127339

2 SubmittersRCV000198875 RCV000220008

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

SNV
Germline/somatic

Chr17:7673796

Pathogenic/Likely pathogenic

Li-Fraumeni syndrome
Condition: not provided
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.706T>C (p.Tyr236His)

SNV
Germline

Chr17:7674257

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA338059

rs_587782289

3 SubmittersRCV000198628 RCV000492107 RCV004020463

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

SNV
Germline

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.388C>T (p.Leu130Phe)

SNV
Germline

Chr17:7675224

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA339065

rs_863224683

6 SubmittersRCV000200055 RCV000571787 RCV002271460 RCV002288816

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

SNV
Germline/somatic

Chr17:7675995

Pathogenic/Likely pathogenic

Li-Fraumeni syndrome
Adrenal cortex carcinoma
Carcinoma of esophagus
Neoplasm of brain
Breast neoplasm
Transitional cell carcinoma of the bladder
Gastric adenocarcinoma
Squamous cell lung carcinoma
Acute myeloid leukemia
Malignant melanoma of skin
Neoplasm of the large intestine
Small cell lung carcinoma
Pancreatic adenocarcinoma
Squamous cell carcinoma of the skin
Squamous cell carcinoma of the head and neck
Ovarian serous cystadenocarcinoma
Hepatocellular carcinoma
Brainstem glioma
Lung adenocarcinoma
Glioblastoma
Papillary renal cell carcinoma type 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA337257

rs_786201057

3 SubmittersRCV000197507 RCV000421753 RCV000423507 RCV000438784 RCV000425663 RCV000427801 RCV000430716 RCV000433115 RCV000422366 RCV000436943 RCV000426240 RCV000430953 RCV000442723 RCV000443241 RCV000433745 RCV000443320 RCV000441651 RCV000420405 RCV000420607 RCV000431571 RCV000437594 RCV003165469

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

SNV
Germline

Chr22:28719486

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA336037

rs_786203229

9 SubmittersRCV000195929 RCV000566129 RCV002485316

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

SNV
Germline/somatic

Chr17:7674263

Pathogenic/Likely pathogenic

Li-Fraumeni syndrome
Gastric adenocarcinoma
Neoplasm of the large intestine
Hepatocellular carcinoma
Squamous cell lung carcinoma
Small cell lung carcinoma
Glioblastoma
Ovarian serous cystadenocarcinoma
Prostate adenocarcinoma
Pancreatic adenocarcinoma
Squamous cell carcinoma of the head and neck
Carcinoma of esophagus
Adrenal cortex carcinoma
Breast neoplasm
Transitional cell carcinoma of the bladder
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA348450

rs_864622237

4 SubmittersRCV000204217 RCV000424345 RCV000424462 RCV000430896 RCV000433956 RCV000432845 RCV000433328 RCV000445176 RCV000418073 RCV000445265 RCV000423238 RCV000425587 RCV000435222 RCV000440475 RCV000441597 RCV000492197 RCV004020511

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

SNV
Germline

Chr17:7675232

Pathogenic

Li-Fraumeni syndrome

Criteria Provided
Single Submitter

CA349567

rs_730881999

1 SubmittersRCV000205404

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

SNV
Germline

Chr17:7676167

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA353535

rs_869312782

3 SubmittersRCV000210192 RCV002288839 RCV001853361

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

SNV
Germline/somatic

Chr17:7675095

Pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Malignant neoplasm of body of uterus
Hepatocellular carcinoma
Squamous cell carcinoma of the head and neck
Lung adenocarcinoma
Neoplasm of brain
Gastric adenocarcinoma
Breast neoplasm
Pancreatic adenocarcinoma
Li-Fraumeni syndrome
Carcinoma of esophagus
Brainstem glioma
Small cell lung carcinoma
Ovarian serous cystadenocarcinoma
Neoplasm of the large intestine
Adrenal cortex carcinoma
Malignant melanoma of skin
Neoplasm of ovary
Lip and oral cavity carcinoma

Reviewed By Expert Panel

CA10577579

rs_876660754

9 SubmittersRCV000214341 RCV000223396 RCV000423333 RCV000418817 RCV000424469 RCV000429913 RCV000435365 RCV000441217 RCV000418173 RCV000418768 RCV000477355 RCV000429546 RCV000435180 RCV000440133 RCV000423542 RCV000433605 RCV000434638 RCV000439338 RCV000785308 RCV001255635

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

SNV
Germline

Chr17:7669676

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10580901

rs_876658876

4 SubmittersRCV000217059 RCV002288860 RCV003401139

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

SNV
Germline

Chr17:7669691

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA10580902

rs_876658982

7 SubmittersRCV000222547 RCV000466199 RCV001252683 RCV001535521

NM_000546.6(TP53):c.1073A>T (p.Glu358Val)

SNV
Germline

Chr17:7670636

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA000790

rs_773553186

7 SubmittersRCV000219841 RCV000249541 RCV000463320 RCV001557066

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

SNV
Germline

Chr17:7670716

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA10580906

rs_587782272

5 SubmittersRCV000221716 RCV000786812 RCV000804263 RCV002288878

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

SNV
Germline/somatic

Chr17:7673552

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA10580908

rs_876659384

5 SubmittersRCV000218971 RCV000633385 RCV000785490 RCV002288871

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

SNV
Germline

Chr17:7673598

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10580910

rs_876660829

4 SubmittersRCV000221944 RCV000797410 RCV002288897

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

SNV
Germline

Chr17:7673698

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome

Criteria Provided
Conflicting Classifications

CA10580911

rs_876659784

3 SubmittersRCV000216225 RCV001853589

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

SNV
Germline

Chr17:7673712

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10580912

rs_876658714

3 SubmittersRCV000218916 RCV000700080 RCV002288859

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

SNV
Germline

Chr17:7673743

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA001422

rs_587780076

5 SubmittersRCV000219408 RCV001052713 RCV002288849

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

SNV
Germline/somatic

Chr17:7673787

Pathogenic

Hereditary cancer-predisposing syndrome
Neoplasm of brain
Squamous cell carcinoma of the skin
Squamous cell lung carcinoma
Pancreatic adenocarcinoma
Lung adenocarcinoma
Squamous cell carcinoma of the head and neck
Multiple myeloma
Malignant neoplasm of body of uterus
Malignant melanoma of skin
Neoplasm of the large intestine
Breast neoplasm
Carcinoma of esophagus
Ovarian serous cystadenocarcinoma
Neoplasm of ovary
Gallbladder cancer
Li-Fraumeni syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA10580915

rs_876659802

6 SubmittersRCV000214784 RCV000421915 RCV000424153 RCV000429345 RCV000430442 RCV000433311 RCV000434963 RCV000443824 RCV000419043 RCV000440687 RCV000417969 RCV000423023 RCV000428205 RCV000439555 RCV000785311 RCV001374441 RCV001042706 RCV001541668

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

SNV
Germline

Chr17:7673793

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10580916

rs_786202082

5 SubmittersRCV000223364 RCV000236401 RCV002288879 RCV002515676

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

SNV
Germline/somatic

Chr17:7673802

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Multiple myeloma
Adrenal cortex carcinoma
Transitional cell carcinoma of the bladder
Pancreatic adenocarcinoma
Malignant melanoma of skin
Neoplasm of brain
Malignant neoplasm of body of uterus
Squamous cell carcinoma of the head and neck
Prostate adenocarcinoma
Breast neoplasm
Medulloblastoma
Uterine carcinosarcoma
Ovarian serous cystadenocarcinoma
Gastric adenocarcinoma
Carcinoma of esophagus
Brainstem glioma
Acute myeloid leukemia
B-cell chronic lymphocytic leukemia
Squamous cell lung carcinoma
Hepatocellular carcinoma
Neoplasm of the large intestine
Small cell lung carcinoma
Lung adenocarcinoma
Glioblastoma
Li-Fraumeni syndrome
Neoplasm of ovary
Li-Fraumeni syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA10580917

rs_28934576

6 SubmittersRCV000222860 RCV000418732 RCV000419080 RCV000422030 RCV000419328 RCV000419898 RCV000420123 RCV000426561 RCV000421059 RCV000426712 RCV000427328 RCV000427811 RCV000429434 RCV000429654 RCV000431744 RCV000431835 RCV000436356 RCV000439039 RCV000439246 RCV000440313 RCV000434099 RCV000437116 RCV000437377 RCV000444938 RCV000442511 RCV000553607 RCV000785460 RCV002288863

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

SNV
Germline/somatic

Chr17:7673805

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Breast neoplasm
Malignant neoplasm of body of uterus
Ovarian serous cystadenocarcinoma
Gastric adenocarcinoma
Pancreatic adenocarcinoma
Squamous cell carcinoma of the skin
Squamous cell carcinoma of the head and neck
Multiple myeloma
Neoplasm of the large intestine
Transitional cell carcinoma of the bladder
Lung adenocarcinoma
Papillary renal cell carcinoma type 1
Medulloblastoma
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Conflicting Classifications

CA10580918

rs_876660333

4 SubmittersRCV000220536 RCV000422297 RCV000421184 RCV000419845 RCV000420090 RCV000431226 RCV000441216 RCV000441467 RCV000427960 RCV000430105 RCV000421439 RCV000432569 RCV000439065 RCV000444129 RCV002515714 RCV004020685

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

SNV
Germline/somatic

Chr17:7673823

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lung adenocarcinoma
Neoplasm of brain
Pancreatic adenocarcinoma
Squamous cell carcinoma of the head and neck
Ovarian serous cystadenocarcinoma
Carcinoma of esophagus
Glioblastoma
Squamous cell carcinoma of the skin
Breast neoplasm
Small cell lung carcinoma
Hepatocellular carcinoma
Transitional cell carcinoma of the bladder
Uterine carcinosarcoma
Malignant melanoma of skin
Squamous cell lung carcinoma
Neoplasm of the large intestine
B-cell chronic lymphocytic leukemia
Malignant neoplasm of body of uterus
Li-Fraumeni syndrome 1
Li-Fraumeni syndrome

Criteria Provided
Conflicting Classifications

CA10580919

rs_193920774

4 SubmittersRCV000220597 RCV000422392 RCV000424659 RCV000433685 RCV000435298 RCV000439374 RCV000440058 RCV000422798 RCV000427379 RCV000428065 RCV000429134 RCV000434748 RCV000417840 RCV000437591 RCV000444359 RCV000434911 RCV000423426 RCV000444283 RCV000445304 RCV002288888 RCV001854689

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

SNV
Germline/somatic

Chr17:7674199

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lung adenocarcinoma
Neoplasm of brain
Glioblastoma
Breast neoplasm
B-cell chronic lymphocytic leukemia
Pancreatic adenocarcinoma
Carcinoma of esophagus
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Conflicting Classifications

CA10580923

rs_876659675

5 SubmittersRCV000221023 RCV000440110 RCV000441998 RCV000425285 RCV000432689 RCV000422868 RCV000432486 RCV000433813 RCV000633370 RCV002288875

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.638G>C (p.Arg213Pro)

SNV
Germline/somatic

Chr17:7674893

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Squamous cell carcinoma of the skin
Ovarian serous cystadenocarcinoma
Breast neoplasm
Squamous cell lung carcinoma
Uterine carcinosarcoma
Squamous cell carcinoma of the head and neck
Hepatocellular carcinoma
Prostate adenocarcinoma
Lung adenocarcinoma
Carcinoma of esophagus
Neoplasm of brain
Malignant neoplasm of body of uterus
Adenoid cystic carcinoma
Papillary renal cell carcinoma type 1
Transitional cell carcinoma of the bladder
Gastric adenocarcinoma
Glioblastoma
Malignant melanoma of skin
Adrenal cortex carcinoma
Pancreatic adenocarcinoma
Nasopharyngeal neoplasm
Neoplasm of the large intestine
not specified
Li-Fraumeni syndrome 1
Li-Fraumeni syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA10580932

rs_587778720

5 SubmittersRCV000220461 RCV000420213 RCV000424407 RCV000426111 RCV000429975 RCV000441598 RCV000419521 RCV000423147 RCV000418520 RCV000423776 RCV000441029 RCV000425014 RCV000443926 RCV000430230 RCV000430895 RCV000434458 RCV000435742 RCV000436779 RCV000431639 RCV000433848 RCV000443850 RCV000440212 RCV000440917 RCV000506128 RCV002288865 RCV002518297

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

SNV
Germline

Chr17:7674927

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome

Criteria Provided
Conflicting Classifications

CA10580933

rs_587780072

3 SubmittersRCV000218191 RCV003509516

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

SNV
Germline/somatic

Chr17:7674944

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Neoplasm of the large intestine
Squamous cell carcinoma of the head and neck
Papillary renal cell carcinoma type 1
Carcinoma of esophagus
Squamous cell lung carcinoma
Neoplasm of brain
Small cell lung carcinoma
Breast neoplasm
Ovarian serous cystadenocarcinoma
Lung adenocarcinoma
Malignant melanoma of skin
Multiple myeloma
Squamous cell carcinoma of the skin
Pancreatic adenocarcinoma
Gastric adenocarcinoma
Glioblastoma
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA10580934

rs_483352697

6 SubmittersRCV000216410 RCV000418400 RCV000423798 RCV000427483 RCV000431695 RCV000443813 RCV000443927 RCV000419494 RCV000425092 RCV000429772 RCV000433800 RCV000435372 RCV000436292 RCV000426017 RCV000434064 RCV000440531 RCV000440866 RCV003114386 RCV004020663

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

SNV
Germline/somatic

Chr17:7674954

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
B-cell chronic lymphocytic leukemia
Neoplasm of brain
Uterine carcinosarcoma
Transitional cell carcinoma of the bladder
Ovarian serous cystadenocarcinoma
Papillary renal cell carcinoma, sporadic
Hepatocellular carcinoma
Brainstem glioma
Malignant neoplasm of body of uterus
Condition: not provided
Gastric adenocarcinoma
Pancreatic adenocarcinoma
Carcinoma of esophagus
Squamous cell carcinoma of the head and neck
Prostate adenocarcinoma
Lung adenocarcinoma
Neoplasm of the large intestine
Acute myeloid leukemia
Breast neoplasm
Squamous cell lung carcinoma
Small cell lung carcinoma
Li-Fraumeni syndrome
Malignant tumor of urinary bladder
Li-Fraumeni syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA10580936

rs_876658468

7 SubmittersRCV000221478 RCV000424900 RCV000430089 RCV000436284 RCV000444740 RCV000445008 RCV000419469 RCV000419839 RCV000423524 RCV000426264 RCV000412758 RCV000418749 RCV000421204 RCV000440111 RCV000425998 RCV000431464 RCV000432551 RCV000429902 RCV000437380 RCV000441207 RCV000434647 RCV000441502 RCV000809571 RCV003332145 RCV002288851

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

SNV
Germline

Chr17:7674962

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10580937

rs_876660825

3 SubmittersRCV000222080 RCV001045782 RCV002288896

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

SNV
Germline

Chr17:7676040

Pathogenic/Likely pathogenic

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.273G>A (p.Trp91Ter)

SNV
Germline/somatic

Chr17:7676096

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA10580953

rs_876660548

9 SubmittersRCV000220815 RCV000233967 RCV000657656 RCV001028065 RCV000785284

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

SNV
Germline

Chr17:7676136

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10580955

rs_876658527

5 SubmittersRCV000219512 RCV000552207 RCV002288854

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

SNV
Germline

Chr17:7676155

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome

Criteria Provided
Conflicting Classifications

CA003071

rs_587782769

3 SubmittersRCV000223537 RCV001221060

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

SNV
Germline/somatic

Chr17:7676211

Pathogenic

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
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.146A>G (p.Asp49Gly)

SNV
Germline

Chr17:7676223

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome

Criteria Provided
Conflicting Classifications

CA003170

rs_759728549

3 SubmittersRCV000219898 RCV000702036

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

SNV
Germline

Chr17:7676581

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA003990

rs_781595324

6 SubmittersRCV000220312 RCV000550564 RCV001575870 RCV002288887

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

SNV
Germline

Chr17:7670601

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
not specified
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10583673

rs_878854062

4 SubmittersRCV000229362 RCV000437181 RCV000580314

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

SNV
Germline/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.743G>C (p.Arg248Pro)

SNV
Germline/somatic

Chr17:7674220

Pathogenic/Likely pathogenic

Li-Fraumeni syndrome
Gastric adenocarcinoma
Malignant neoplasm of body of uterus
Pancreatic adenocarcinoma
Malignant melanoma of skin
Breast neoplasm
Glioblastoma
Squamous cell carcinoma of the head and neck
Neoplasm of the large intestine
Medulloblastoma
B-cell chronic lymphocytic leukemia
Hepatocellular carcinoma
Ovarian serous cystadenocarcinoma
Multiple myeloma
Neoplasm of brain
Squamous cell lung carcinoma
Squamous cell carcinoma of the skin
Acute myeloid leukemia
Lung adenocarcinoma
Small cell lung carcinoma
Uterine carcinosarcoma
Myelodysplastic syndrome
Prostate adenocarcinoma
Brainstem glioma
Carcinoma of esophagus
Transitional cell carcinoma of the bladder
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA10583676

rs_11540652

4 SubmittersRCV000229442 RCV000420292 RCV000421633 RCV000425773 RCV000430314 RCV000434831 RCV000431663 RCV000432304 RCV000432999 RCV000436850 RCV000438849 RCV000445077 RCV000418894 RCV000419610 RCV000426089 RCV000435488 RCV000436124 RCV000441018 RCV000444130 RCV000444805 RCV000420936 RCV000424795 RCV000425414 RCV000430964 RCV000441674 RCV000443867 RCV002378977 RCV004020765

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

SNV
Germline/somatic

Chr17:7674291

Pathogenic

Li-Fraumeni syndrome
Condition: not provided

Criteria Provided
Single Submitter

CA10583677

rs_878854073

2 SubmittersRCV000228996 RCV001610535

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

SNV
Germline

Chr17:7674879

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10583679

rs_878854072

3 SubmittersRCV000228072 RCV001357802 RCV002256136

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

SNV
Germline

Chr17:7675994

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA10575452

rs_55863639

4 SubmittersRCV000229813 RCV000786841 RCV002347868 RCV004020764

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

SNV
Germline

Chr17:7676276

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA003276

rs_746791390

4 SubmittersRCV000229785 RCV000563713 RCV001682937

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

SNV
Germline

Chr22:28719394

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA10583911

rs_786203650

5 SubmittersRCV000229878 RCV000571803 RCV003333745

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

SNV
Germline

Chr17:7673826

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA10584586

rs_879253942

7 SubmittersRCV000235981 RCV000554509 RCV000564617 RCV000662855 RCV001257518

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

SNV
Germline

Chr17:7674265

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10584588

rs_879254233

4 SubmittersRCV000235730 RCV000569303 RCV001302749 RCV002288936

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

SNV
Germline

Chr17:7674876

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10584589

rs_879253894

5 SubmittersRCV000492115 RCV000576805 RCV001065230 RCV001705300

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

SNV
Germline

Chr17:7675074

Likely pathogenic

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

Reviewed By Expert Panel

CA10584590

rs_879253911

4 SubmittersRCV000235571 RCV000492319 RCV000544036

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

SNV
Germline

Chr17:7675122

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10584591

rs_879254249

4 SubmittersRCV000235745 RCV000541487 RCV002288938 RCV002288937

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

SNV
Germline

Chr17:7675139

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA10584592

rs_587782144

5 SubmittersRCV000236862 RCV000548853 RCV000989719 RCV002288931 RCV002288932

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

SNV
Germline

Chr17:7675045

Conflicting classifications of pathogenicity

not specified
Li-Fraumeni syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA002364

rs_775915220

5 SubmittersRCV000253181 RCV001078796 RCV000726139

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.643A>G (p.Ser215Gly)

SNV
Germline/somatic

Chr17:7674888

Conflicting classifications of pathogenicity

Condition: not provided
Small cell lung carcinoma
Gastric adenocarcinoma
Carcinoma of esophagus
Pancreatic adenocarcinoma
Acute myeloid leukemia
Ovarian serous cystadenocarcinoma
Hepatocellular carcinoma
Breast neoplasm
Lung adenocarcinoma
Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Neoplasm of ovary
not specified
Li-Fraumeni syndrome 1

Criteria Provided
Conflicting Classifications

CA10588671

rs_886039484

9 SubmittersRCV000255449 RCV000418361 RCV000427564 RCV000437324 RCV000439730 RCV000445278 RCV000429054 RCV000430142 RCV000436667 RCV000419408 RCV000700891 RCV000772138 RCV000785239 RCV002282093 RCV004021028

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

SNV
Germline/somatic

Chr17:7675236

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10588672

rs_886039483

5 SubmittersRCV000255685 RCV000568595 RCV000705124 RCV000785482 RCV004021027

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

SNV
Germline

Chr17:7674327

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA001891

rs_374907737

6 SubmittersRCV000409763 RCV001796970 RCV001810875 RCV003892009 RCV002288981

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

SNV
Germline

Chr17:7676512

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA16042179

rs_1057517593

5 SubmittersRCV000410984 RCV000469570 RCV003150194

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

SNV
Germline/somatic

Chr17:7674232

Pathogenic/Likely pathogenic

Condition: not provided
Glioblastoma
Small cell lung carcinoma
Neoplasm of the large intestine
Ovarian serous cystadenocarcinoma
Squamous cell lung carcinoma
Lung adenocarcinoma
Carcinoma of esophagus
Uterine carcinosarcoma
Hepatocellular carcinoma
Squamous cell carcinoma of the head and neck
Neoplasm of brain
Li-Fraumeni syndrome
Malignant neoplasm of body of uterus
Hereditary cancer-predisposing syndrome
Gastric adenocarcinoma
Neoplasm of ovary
Li-Fraumeni syndrome 1
Gastric cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA16043048

rs_985033810

10 SubmittersRCV000413969 RCV000421269 RCV000422456 RCV000419371 RCV000427142 RCV000423079 RCV000429659 RCV000428997 RCV000431939 RCV000440742 RCV000432739 RCV000444195 RCV000477083 RCV000444224 RCV000561866 RCV000439239 RCV000785537 RCV002288986 RCV003168599

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

SNV
Germline/somatic

Chr17:7674217

Pathogenic/Likely pathogenic

Medulloblastoma
Ovarian serous cystadenocarcinoma
Squamous cell lung carcinoma
Malignant neoplasm of body of uterus
Glioblastoma
Breast neoplasm
Prostate adenocarcinoma
Pancreatic adenocarcinoma
Squamous cell carcinoma of the skin
Squamous cell carcinoma of the head and neck
Hepatocellular carcinoma
Gastric adenocarcinoma
Carcinoma of esophagus
Uterine carcinosarcoma
Small cell lung carcinoma
Acute myeloid leukemia
Lung adenocarcinoma
Condition: not provided
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16602484

rs_587782329

4 SubmittersRCV000420349 RCV000423288 RCV000424367 RCV000425028 RCV000422597 RCV000426063 RCV000432872 RCV000431816 RCV000433555 RCV000430687 RCV000438147 RCV000440254 RCV000444506 RCV000440948 RCV000441532 RCV000444945 RCV000445262 RCV001311109 RCV002392945 RCV004022197

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.518T>C (p.Val173Ala)

SNV
Germline/somatic

Chr17:7675094

Pathogenic/Likely pathogenic

Ovarian serous cystadenocarcinoma
Carcinoma of esophagus
Adrenal cortex carcinoma
Neoplasm of brain
Malignant neoplasm of body of uterus
Brainstem glioma
Small cell lung carcinoma
Pancreatic adenocarcinoma
Gastric adenocarcinoma
Hepatocellular carcinoma
Squamous cell carcinoma of the head and neck
Breast neoplasm
Acute myeloid leukemia
Lung adenocarcinoma
Neoplasm of the large intestine
Malignant melanoma of skin
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16602486

rs_1057519747

5 SubmittersRCV000420735 RCV000421990 RCV000419648 RCV000420982 RCV000428561 RCV000430804 RCV000437348 RCV000432237 RCV000438619 RCV000438785 RCV000439921 RCV000437553 RCV000426247 RCV000445170 RCV000430991 RCV000436282 RCV000775880 RCV001237773 RCV002289516

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

SNV
Germline/somatic

Chr17:7675208

Pathogenic/Likely pathogenic

Neoplasm of brain
Prostate adenocarcinoma
Adrenal cortex carcinoma
Neoplasm of the large intestine
Carcinoma of esophagus
Lung adenocarcinoma
Ovarian serous cystadenocarcinoma
Breast neoplasm
Gastric adenocarcinoma
Pancreatic adenocarcinoma
Squamous cell lung carcinoma
Hepatocellular carcinoma
Transitional cell carcinoma of the bladder
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16602985

rs_587781991

5 SubmittersRCV000417503 RCV000418582 RCV000425788 RCV000426876 RCV000427781 RCV000428180 RCV000434318 RCV000436707 RCV000435797 RCV000436440 RCV000438861 RCV000444308 RCV000444605 RCV000492398 RCV001203469 RCV004022199

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

SNV
Germline/somatic

Chr17:7675209

Pathogenic/Likely pathogenic

Neoplasm of brain
Breast neoplasm
Prostate adenocarcinoma
Lung adenocarcinoma
Adrenal cortex carcinoma
Carcinoma of esophagus
Pancreatic adenocarcinoma
Hepatocellular carcinoma
Neoplasm of the large intestine
Gastric adenocarcinoma
Squamous cell lung carcinoma
Transitional cell carcinoma of the bladder
Ovarian serous cystadenocarcinoma
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16602986

rs_1057519975

3 SubmittersRCV000418091 RCV000423943 RCV000422903 RCV000425388 RCV000426036 RCV000430504 RCV000433604 RCV000432610 RCV000434656 RCV000440105 RCV000441192 RCV000444209 RCV000444995 RCV001383908 RCV004022200

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

SNV
Germline/somatic

Chr17:7675207

Conflicting classifications of pathogenicity

Carcinoma of esophagus
Pancreatic adenocarcinoma
Ovarian serous cystadenocarcinoma
Hepatocellular carcinoma
Lung adenocarcinoma
Adrenal cortex carcinoma
Prostate adenocarcinoma
Neoplasm of brain
Breast neoplasm
Neoplasm of the large intestine
Transitional cell carcinoma of the bladder
Squamous cell lung carcinoma
Gastric adenocarcinoma
Condition: not provided
Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Conflicting Classifications

CA16602987

rs_1057519976

5 SubmittersRCV000417767 RCV000420893 RCV000420220 RCV000423274 RCV000424924 RCV000429841 RCV000430892 RCV000432245 RCV000434979 RCV000435704 RCV000439451 RCV000440498 RCV000441628 RCV000479510 RCV000556410 RCV002289519 RCV002289518

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

SNV
Germline/somatic

Chr17:7675209

Likely pathogenic

Prostate adenocarcinoma
Gastric adenocarcinoma
Squamous cell lung carcinoma
Neoplasm of the large intestine
Ovarian serous cystadenocarcinoma
Carcinoma of esophagus
Transitional cell carcinoma of the bladder
Breast neoplasm
Adrenal cortex carcinoma
Pancreatic adenocarcinoma
Hepatocellular carcinoma
Lung adenocarcinoma
Neoplasm of brain
Neoplasm of ovary
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1

Reviewed By Expert Panel

CA16602989

rs_1057519975

5 SubmittersRCV000420954 RCV000423071 RCV000422074 RCV000418158 RCV000429525 RCV000428411 RCV000433361 RCV000437581 RCV000432330 RCV000438642 RCV000445231 RCV000439732 RCV000444598 RCV000785515 RCV000570655 RCV000991142 RCV004022201

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

SNV
Germline/somatic

Chr17:7675189

Pathogenic/Likely pathogenic

Acute myeloid leukemia
Multiple myeloma
Squamous cell lung carcinoma
Neoplasm of the large intestine
Breast neoplasm
Malignant neoplasm of body of uterus
Pancreatic adenocarcinoma
Prostate adenocarcinoma
Papillary renal cell carcinoma type 1
Neoplasm of brain
Lung adenocarcinoma
Hereditary cancer-predisposing syndrome
Squamous cell carcinoma of the head and neck
Li-Fraumeni syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA16602990

rs_1057519977

3 SubmittersRCV000425931 RCV000423924 RCV000424802 RCV000422816 RCV000430241 RCV000434169 RCV000431589 RCV000434797 RCV000445034 RCV000440499 RCV000442353 RCV000492201 RCV000444942 RCV000467641

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

SNV
Germline/somatic

Chr17:7675191

Conflicting classifications of pathogenicity

Neoplasm of brain
Acute myeloid leukemia
Lung adenocarcinoma
Multiple myeloma
Neoplasm of the large intestine
Papillary renal cell carcinoma type 1
Squamous cell lung carcinoma
Breast neoplasm
Malignant neoplasm of body of uterus
Prostate adenocarcinoma
Squamous cell carcinoma of the head and neck
Pancreatic adenocarcinoma
Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA16602991

rs_1057519978

3 SubmittersRCV000419723 RCV000420817 RCV000418678 RCV000423623 RCV000425407 RCV000432161 RCV000430017 RCV000437414 RCV000431037 RCV000436190 RCV000440220 RCV000441312 RCV001861481 RCV002328907

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

SNV
Germline/somatic

Chr17:7675190

Conflicting classifications of pathogenicity

Acute myeloid leukemia
Papillary renal cell carcinoma type 1
Malignant neoplasm of body of uterus
Lung adenocarcinoma
Prostate adenocarcinoma
Squamous cell lung carcinoma
Breast neoplasm
Multiple myeloma
Squamous cell carcinoma of the head and neck
Neoplasm of brain
Neoplasm of the large intestine
Pancreatic adenocarcinoma
Li-Fraumeni syndrome

Criteria Provided
Conflicting Classifications

CA16602994

rs_587781288

3 SubmittersRCV000417404 RCV000418478 RCV000423030 RCV000425219 RCV000427605 RCV000429427 RCV000433302 RCV000436176 RCV000435499 RCV000437866 RCV000444376 RCV000445236 RCV001214540

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

SNV
Germline/somatic

Chr17:7675085

Pathogenic/Likely pathogenic

Neoplasm of the large intestine
Gastric adenocarcinoma
Prostate adenocarcinoma
Transitional cell carcinoma of the bladder
Lung adenocarcinoma
Papillary renal cell carcinoma type 1
Breast neoplasm
Pancreatic adenocarcinoma
Hepatocellular carcinoma
Squamous cell lung carcinoma
Squamous cell carcinoma of the head and neck
Neoplasm of brain
Carcinoma of esophagus
Acute myeloid leukemia
Ovarian serous cystadenocarcinoma
Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16602995

rs_786202962

4 SubmittersRCV000423829 RCV000424063 RCV000423447 RCV000425950 RCV000424490 RCV000429162 RCV000429805 RCV000431923 RCV000435143 RCV000434780 RCV000440706 RCV000440448 RCV000442295 RCV000445093 RCV000445073 RCV001244047 RCV002348142 RCV004022202

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

SNV
Germline/somatic

Chr17:7675086

Conflicting classifications of pathogenicity

Acute myeloid leukemia
Lung adenocarcinoma
Gastric adenocarcinoma
Neoplasm of brain
Papillary renal cell carcinoma type 1
Breast neoplasm
Carcinoma of esophagus
Squamous cell lung carcinoma
Squamous cell carcinoma of the head and neck
Prostate adenocarcinoma
Hepatocellular carcinoma
Pancreatic adenocarcinoma
Transitional cell carcinoma of the bladder
Ovarian serous cystadenocarcinoma
Neoplasm of the large intestine
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Condition: not provided
Li-Fraumeni syndrome 1

Criteria Provided
Conflicting Classifications

CA16602996

rs_967461896

5 SubmittersRCV000417611 RCV000420420 RCV000420646 RCV000425621 RCV000428308 RCV000426275 RCV000427846 RCV000428520 RCV000433667 RCV000436945 RCV000439156 RCV000437617 RCV000439650 RCV000442242 RCV000444511 RCV000492644 RCV001060393 RCV001352918 RCV004022203

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

SNV
Germline/somatic

Chr17:7675086

Conflicting classifications of pathogenicity

Transitional cell carcinoma of the bladder
Prostate adenocarcinoma
Neoplasm of the large intestine
Ovarian serous cystadenocarcinoma
Hepatocellular carcinoma
Neoplasm of brain
Pancreatic adenocarcinoma
Squamous cell carcinoma of the head and neck
Papillary renal cell carcinoma type 1
Gastric adenocarcinoma
Acute myeloid leukemia
Breast neoplasm
Lung adenocarcinoma
Squamous cell lung carcinoma
Carcinoma of esophagus
Neoplasm of ovary
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Conflicting Classifications

CA16602997

rs_967461896

5 SubmittersRCV000417784 RCV000417996 RCV000423257 RCV000422633 RCV000425147 RCV000426543 RCV000427160 RCV000432450 RCV000434994 RCV000434565 RCV000433975 RCV000442522 RCV000437830 RCV000439618 RCV000445223 RCV000785535 RCV001023834 RCV003621529 RCV004022204

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

SNV
Germline/somatic

Chr17:7675084

Conflicting classifications of pathogenicity

Squamous cell carcinoma of the head and neck
Gastric adenocarcinoma
Papillary renal cell carcinoma type 1
Prostate adenocarcinoma
Carcinoma of esophagus
Neoplasm of brain
Transitional cell carcinoma of the bladder
Neoplasm of the large intestine
Lung adenocarcinoma
Breast neoplasm
Hepatocellular carcinoma
Ovarian serous cystadenocarcinoma
Acute myeloid leukemia
Pancreatic adenocarcinoma
Squamous cell lung carcinoma
Hereditary cancer-predisposing syndrome
Neoplasm of ovary
Li-Fraumeni syndrome
TP53-related disorder
Li-Fraumeni syndrome 1

Criteria Provided
Conflicting Classifications

CA16602998

rs_1057519980

7 SubmittersRCV000418563 RCV000422732 RCV000424653 RCV000421434 RCV000424249 RCV000429475 RCV000429952 RCV000430137 RCV000434070 RCV000440822 RCV000432087 RCV000439276 RCV000445065 RCV000441518 RCV000442369 RCV000567103 RCV000785243 RCV000530055 RCV003401413 RCV004022205

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

SNV
Germline/somatic

Chr17:7675086

Conflicting classifications of pathogenicity

Neoplasm of brain
Papillary renal cell carcinoma type 1
Breast neoplasm
Gastric adenocarcinoma
Ovarian serous cystadenocarcinoma
Lung adenocarcinoma
Pancreatic adenocarcinoma
Neoplasm of the large intestine
Prostate adenocarcinoma
Squamous cell lung carcinoma
Transitional cell carcinoma of the bladder
Carcinoma of esophagus
Hepatocellular carcinoma
Squamous cell carcinoma of the head and neck
Acute myeloid leukemia
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Neoplasm of ovary
Li-Fraumeni syndrome 1

Criteria Provided
Conflicting Classifications

CA16602999

rs_967461896

6 SubmittersRCV000419497 RCV000419681 RCV000421755 RCV000423671 RCV000425379 RCV000430429 RCV000431070 RCV000436082 RCV000431573 RCV000436752 RCV000430876 RCV000438958 RCV000436236 RCV000444713 RCV000441815 RCV001023833 RCV001044520 RCV000785469 RCV004022206

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

SNV
Germline/somatic

Chr17:7674250

Pathogenic/Likely pathogenic

Malignant neoplasm of body of uterus
Breast neoplasm
Pancreatic adenocarcinoma
Multiple myeloma
Lung adenocarcinoma
Neoplasm of brain
Squamous cell carcinoma of the head and neck
Gastric adenocarcinoma
Ovarian serous cystadenocarcinoma
Uterine carcinosarcoma
B-cell chronic lymphocytic leukemia
Hepatocellular carcinoma
Neoplasm of uterine cervix
Neoplasm of the large intestine
Carcinoma of esophagus
Glioblastoma
Transitional cell carcinoma of the bladder
Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16603000

rs_730882005

5 SubmittersRCV000418555 RCV000417498 RCV000422481 RCV000422719 RCV000425072 RCV000427235 RCV000427531 RCV000428817 RCV000433989 RCV000432745 RCV000435343 RCV000433862 RCV000435149 RCV000439349 RCV000440369 RCV000442469 RCV000444988 RCV000473420 RCV002365459 RCV004022207

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

SNV
Germline/somatic

Chr17:7674250

Pathogenic/Likely pathogenic

Neoplasm of brain
Squamous cell carcinoma of the head and neck
Malignant neoplasm of body of uterus
Gastric adenocarcinoma
B-cell chronic lymphocytic leukemia
Transitional cell carcinoma of the bladder
Glioblastoma
Uterine carcinosarcoma
Neoplasm of the large intestine
Breast neoplasm
Hepatocellular carcinoma
Carcinoma of esophagus
Neoplasm of uterine cervix
Ovarian serous cystadenocarcinoma
Pancreatic adenocarcinoma
Multiple myeloma
Lung adenocarcinoma
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA16603001

rs_730882005

7 SubmittersRCV000418923 RCV000419485 RCV000423226 RCV000424531 RCV000425465 RCV000425867 RCV000424302 RCV000429749 RCV000432222 RCV000434344 RCV000435732 RCV000434584 RCV000440842 RCV000439773 RCV000441115 RCV000442527 RCV000442617 RCV001067780 RCV001523834 RCV001551247 RCV002289520

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

SNV
Germline/somatic

Chr17:7674251

Pathogenic/Likely pathogenic

B-cell chronic lymphocytic leukemia
Hepatocellular carcinoma
Glioblastoma
Ovarian serous cystadenocarcinoma
Neoplasm of uterine cervix
Multiple myeloma
Neoplasm of the large intestine
Pancreatic adenocarcinoma
Malignant neoplasm of body of uterus
Gastric adenocarcinoma
Carcinoma of esophagus
Uterine carcinosarcoma
Squamous cell carcinoma of the head and neck
Hereditary cancer-predisposing syndrome
Lung adenocarcinoma
Transitional cell carcinoma of the bladder
Neoplasm of brain
Breast neoplasm
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16603002

rs_1057519981

5 SubmittersRCV000421933 RCV000428210 RCV000419348 RCV000430482 RCV000420409 RCV000421679 RCV000437199 RCV000424052 RCV000437018 RCV000426193 RCV000438447 RCV000430655 RCV000433046 RCV000492666 RCV000441834 RCV000442237 RCV000431946 RCV000441879 RCV000812726 RCV002289521

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

SNV
Germline/somatic

Chr17:7674251

Pathogenic

Lung adenocarcinoma
Carcinoma of esophagus
Uterine carcinosarcoma
Transitional cell carcinoma of the bladder
Neoplasm of uterine cervix
Neoplasm of the large intestine
Pancreatic adenocarcinoma
Ovarian serous cystadenocarcinoma
B-cell chronic lymphocytic leukemia
Multiple myeloma
Squamous cell carcinoma of the head and neck
Glioblastoma
Gastric adenocarcinoma
Malignant neoplasm of body of uterus
Neoplasm of brain
Hepatocellular carcinoma
Breast neoplasm
Neoplasm of ovary
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA16603003

rs_1057519981

4 SubmittersRCV000417486 RCV000422044 RCV000420677 RCV000423396 RCV000422283 RCV000427246 RCV000428630 RCV000428804 RCV000430919 RCV000433478 RCV000437321 RCV000438876 RCV000439946 RCV000435170 RCV000443356 RCV000444792 RCV000437476 RCV000785550 RCV002365460 RCV001390630

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

SNV
Germline/somatic

Chr17:7674238

Conflicting classifications of pathogenicity

Breast neoplasm
Uterine carcinosarcoma
Glioblastoma
Squamous cell lung carcinoma
Hepatocellular carcinoma
B-cell chronic lymphocytic leukemia
Transitional cell carcinoma of the bladder
Lung adenocarcinoma
Carcinoma of esophagus
Gastric adenocarcinoma
Squamous cell carcinoma of the head and neck
Neoplasm of ovary
Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA501203

rs_121912655

4 SubmittersRCV000417879 RCV000418512 RCV000424746 RCV000425032 RCV000427153 RCV000433671 RCV000435743 RCV000442305 RCV000435022 RCV000438269 RCV000442449 RCV000785473 RCV000688366 RCV002379285

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

SNV
Germline/somatic

Chr17:7674239

Conflicting classifications of pathogenicity

B-cell chronic lymphocytic leukemia
Squamous cell lung carcinoma
Breast neoplasm
Lung adenocarcinoma
Squamous cell carcinoma of the head and neck
Hepatocellular carcinoma
Carcinoma of esophagus
Gastric adenocarcinoma
Glioblastoma
Uterine carcinosarcoma
Transitional cell carcinoma of the bladder
Li-Fraumeni syndrome 1
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome

Criteria Provided
Conflicting Classifications

CA16603004

rs_1057519982

5 SubmittersRCV000419559 RCV000423712 RCV000424356 RCV000430244 RCV000429187 RCV000431566 RCV000434352 RCV000439881 RCV000441578 RCV000440943 RCV000442629 RCV000662594 RCV001026200 RCV001325155

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

SNV
Germline/somatic

Chr17:7674237

Pathogenic

Squamous cell carcinoma of the head and neck
Lung adenocarcinoma
Hepatocellular carcinoma
Glioblastoma
B-cell chronic lymphocytic leukemia
Squamous cell lung carcinoma
Carcinoma of esophagus
Uterine carcinosarcoma
Gastric adenocarcinoma
Breast neoplasm
Transitional cell carcinoma of the bladder
Li-Fraumeni syndrome

Criteria Provided
Single Submitter

CA16603005

rs_375874539

2 SubmittersRCV000420256 RCV000421654 RCV000420917 RCV000422298 RCV000431682 RCV000430938 RCV000432990 RCV000432344 RCV000438862 RCV000442778 RCV000441640 RCV003621530

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

SNV
Germline/somatic

Chr17:7673796

Pathogenic

Lung adenocarcinoma
Pancreatic adenocarcinoma
Neoplasm of brain
Breast neoplasm
Papillary renal cell carcinoma type 1
Squamous cell carcinoma of the head and neck
Ovarian serous cystadenocarcinoma
Carcinoma of esophagus
Malignant melanoma of skin
Neoplasm of the large intestine
Adrenal cortex carcinoma
Multiple myeloma
Transitional cell carcinoma of the bladder
Glioblastoma
Hepatocellular carcinoma
B-cell chronic lymphocytic leukemia
Neoplasm of ovary
Li-Fraumeni syndrome

Criteria Provided
Single Submitter

CA16603006

rs_863224451

3 SubmittersRCV000418840 RCV000420903 RCV000423743 RCV000425095 RCV000423016 RCV000429558 RCV000428868 RCV000434455 RCV000430324 RCV000440235 RCV000441009 RCV000431612 RCV000432328 RCV000441652 RCV000436058 RCV000442601 RCV000785323 RCV001861482

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

SNV
Germline/somatic

Chr17:7673796

Conflicting classifications of pathogenicity

Lung adenocarcinoma
Glioblastoma
Neoplasm of the large intestine
Adrenal cortex carcinoma
Carcinoma of esophagus
Ovarian serous cystadenocarcinoma
Transitional cell carcinoma of the bladder
Malignant melanoma of skin
Hepatocellular carcinoma
B-cell chronic lymphocytic leukemia
Papillary renal cell carcinoma type 1
Squamous cell carcinoma of the head and neck
Pancreatic adenocarcinoma
Breast neoplasm
Neoplasm of brain
Multiple myeloma
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome

Criteria Provided
Conflicting Classifications

CA16603007

rs_863224451

4 SubmittersRCV000419235 RCV000420599 RCV000419912 RCV000423341 RCV000423990 RCV000425744 RCV000426441 RCV000431286 RCV000430590 RCV000434260 RCV000436480 RCV000437115 RCV000438476 RCV000441019 RCV000441335 RCV000441960 RCV000580293 RCV002521506

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

SNV
Germline/somatic

Chr17:7673797

Conflicting classifications of pathogenicity

Neoplasm of brain
Breast neoplasm
Hepatocellular carcinoma
Neoplasm of the large intestine
Multiple myeloma
Pancreatic adenocarcinoma
Papillary renal cell carcinoma type 1
Transitional cell carcinoma of the bladder
Lung adenocarcinoma
Carcinoma of esophagus
Malignant melanoma of skin
Glioblastoma
Adrenal cortex carcinoma
B-cell chronic lymphocytic leukemia
Squamous cell carcinoma of the head and neck
Ovarian serous cystadenocarcinoma
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Conflicting Classifications

CA16603008

rs_1057519983

4 SubmittersRCV000418020 RCV000420225 RCV000420853 RCV000425483 RCV000424757 RCV000426139 RCV000431136 RCV000430390 RCV000432909 RCV000433579 RCV000435695 RCV000435015 RCV000440640 RCV000441393 RCV000442259 RCV000443110 RCV001183954 RCV002521507 RCV004022208

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

SNV
Germline/somatic

Chr17:7673779

Pathogenic/Likely pathogenic

B-cell chronic lymphocytic leukemia
Squamous cell lung carcinoma
Transitional cell carcinoma of the bladder
Breast neoplasm
Squamous cell carcinoma of the head and neck
Pancreatic adenocarcinoma
Multiple myeloma
Lung adenocarcinoma
Gastric adenocarcinoma
Papillary renal cell carcinoma type 1
Ovarian serous cystadenocarcinoma
Hepatocellular carcinoma
Glioblastoma
Squamous cell carcinoma of the skin
Malignant melanoma of skin
Malignant neoplasm of body of uterus
Neuroblastoma
Uterine carcinosarcoma
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16603009

rs_764146326

3 SubmittersRCV000419187 RCV000419880 RCV000421597 RCV000422382 RCV000422971 RCV000424398 RCV000427237 RCV000429763 RCV000431847 RCV000430133 RCV000432647 RCV000437480 RCV000438115 RCV000436876 RCV000440017 RCV000442319 RCV000442636 RCV000443331 RCV000792342 RCV004022209

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

SNV
Germline/somatic

Chr17:7673779

Pathogenic/Likely pathogenic

Multiple myeloma
Hepatocellular carcinoma
Neuroblastoma
Glioblastoma
B-cell chronic lymphocytic leukemia
Squamous cell carcinoma of the skin
Breast neoplasm
Malignant melanoma of skin
Gastric adenocarcinoma
Ovarian serous cystadenocarcinoma
Transitional cell carcinoma of the bladder
Uterine carcinosarcoma
Papillary renal cell carcinoma type 1
Malignant neoplasm of body of uterus
Lung adenocarcinoma
Squamous cell carcinoma of the head and neck
Pancreatic adenocarcinoma
Squamous cell lung carcinoma
Neoplasm of ovary
Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA001503

rs_764146326

5 SubmittersRCV000418705 RCV000421233 RCV000422096 RCV000426863 RCV000424002 RCV000428837 RCV000429505 RCV000428968 RCV000426180 RCV000434267 RCV000431489 RCV000437075 RCV000439749 RCV000442054 RCV000443405 RCV000443489 RCV000436424 RCV000438896 RCV000785452 RCV000824609 RCV002446642

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

SNV
Germline/somatic

Chr17:7673779

Pathogenic/Likely pathogenic

Malignant melanoma of skin
Squamous cell lung carcinoma
Neuroblastoma
Squamous cell carcinoma of the skin
Multiple myeloma
Uterine carcinosarcoma
B-cell chronic lymphocytic leukemia
Papillary renal cell carcinoma type 1
Gastric adenocarcinoma
Ovarian serous cystadenocarcinoma
Squamous cell carcinoma of the head and neck
Lung adenocarcinoma
Malignant neoplasm of body of uterus
Transitional cell carcinoma of the bladder
Pancreatic adenocarcinoma
Breast neoplasm
Hepatocellular carcinoma
Glioblastoma
Gallbladder cancer
Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16603010

rs_764146326

5 SubmittersRCV000420094 RCV000418744 RCV000421295 RCV000419869 RCV000422034 RCV000423682 RCV000428355 RCV000427301 RCV000429459 RCV000427507 RCV000429671 RCV000434610 RCV000437082 RCV000436837 RCV000439019 RCV000438193 RCV000439212 RCV000443566 RCV001292542 RCV001306199 RCV002446644 RCV004022210

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

SNV
Germline/somatic

Chr17:7673764

Conflicting classifications of pathogenicity

Lung adenocarcinoma
Squamous cell carcinoma of the skin
Squamous cell carcinoma of the head and neck
Acute myeloid leukemia
Malignant melanoma of skin
Gastric adenocarcinoma
Carcinoma of esophagus
Transitional cell carcinoma of the bladder
Small cell lung carcinoma
Neoplasm of the large intestine
Pancreatic adenocarcinoma
Ovarian serous cystadenocarcinoma
Neoplasm of brain
Breast neoplasm
Hepatocellular carcinoma
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Conflicting Classifications

CA16603013

rs_786201059

3 SubmittersRCV000418557 RCV000418192 RCV000422952 RCV000423598 RCV000425968 RCV000428400 RCV000428433 RCV000431245 RCV000433190 RCV000435596 RCV000436841 RCV000435774 RCV000442043 RCV000441313 RCV000441497 RCV001048274 RCV004022211

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

SNV
Somatic

Chr17:7673763

Likely pathogenic

Lung adenocarcinoma
Neoplasm of brain
Neoplasm of the large intestine
Acute myeloid leukemia
Hepatocellular carcinoma
Pancreatic adenocarcinoma
Transitional cell carcinoma of the bladder
Squamous cell carcinoma of the head and neck
Breast neoplasm
Malignant melanoma of skin
Gastric adenocarcinoma
Carcinoma of esophagus
Ovarian serous cystadenocarcinoma
Small cell lung carcinoma
Squamous cell carcinoma of the skin
Li-Fraumeni syndrome 1

Criteria Provided
Single Submitter

CA16603015

rs_1057519985

2 SubmittersRCV000419358 RCV000421888 RCV000421331 RCV000423414 RCV000424971 RCV000427672 RCV000430190 RCV000431576 RCV000433092 RCV000434375 RCV000439537 RCV000437905 RCV000443500 RCV000443287 RCV000444095 RCV004022212

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

SNV
Germline/somatic

Chr17:7673811

Pathogenic/Likely pathogenic

Gastric adenocarcinoma
Lung adenocarcinoma
Carcinoma of esophagus
Squamous cell carcinoma of the head and neck
Squamous cell lung carcinoma
Ovarian serous cystadenocarcinoma
Neoplasm of brain
Breast neoplasm
Squamous cell carcinoma of the skin
Condition: not provided
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA16603016

rs_1057519986

5 SubmittersRCV000418965 RCV000419602 RCV000421032 RCV000426140 RCV000429241 RCV000429016 RCV000437299 RCV000439252 RCV000438621 RCV000481465 RCV000824076 RCV002289522 RCV002289523

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

SNV
Germline/somatic

Chr17:7673812

Conflicting classifications of pathogenicity

Lung adenocarcinoma
Squamous cell lung carcinoma
Carcinoma of esophagus
Breast neoplasm
Gastric adenocarcinoma
Ovarian serous cystadenocarcinoma
Squamous cell carcinoma of the skin
Squamous cell carcinoma of the head and neck
Neoplasm of brain
Neoplasm of ovary
Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA16603018

rs_1057519988

4 SubmittersRCV000417655 RCV000418371 RCV000417883 RCV000430718 RCV000427865 RCV000425994 RCV000438999 RCV000436003 RCV000436185 RCV000785257 RCV001362325 RCV002418243

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>T (p.Gly244Cys)

SNV
Germline/somatic

Chr17:7674233

Conflicting classifications of pathogenicity

Neoplasm of the large intestine
Glioblastoma
Hepatocellular carcinoma
Neoplasm of brain
Squamous cell lung carcinoma
Small cell lung carcinoma
Malignant neoplasm of body of uterus
Ovarian serous cystadenocarcinoma
Uterine carcinosarcoma
Squamous cell carcinoma of the head and neck
Carcinoma of esophagus
Lung adenocarcinoma
Gastric adenocarcinoma
Li-Fraumeni syndrome
Familial cancer of breast
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA16603021

rs_1057519989

5 SubmittersRCV000419449 RCV000418385 RCV000422508 RCV000427774 RCV000430162 RCV000427875 RCV000429067 RCV000438569 RCV000436692 RCV000437805 RCV000437360 RCV000439724 RCV000443459 RCV000538079 RCV001270273 RCV001567979 RCV002379286

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.731G>T (p.Gly244Val)

SNV
Somatic

Chr17:7674232

Likely pathogenic

Hepatocellular carcinoma
Neoplasm of brain
Squamous cell lung carcinoma
Glioblastoma
Squamous cell carcinoma of the head and neck
Neoplasm of the large intestine
Gastric adenocarcinoma
Malignant neoplasm of body of uterus
Lung adenocarcinoma
Uterine carcinosarcoma
Small cell lung carcinoma
Carcinoma of esophagus
Ovarian serous cystadenocarcinoma
Neoplasm of ovary
Li-Fraumeni syndrome 1

Criteria Provided
Single Submitter

CA16603023

rs_985033810

3 SubmittersRCV000420188 RCV000417831 RCV000423073 RCV000424338 RCV000428522 RCV000430897 RCV000433321 RCV000433805 RCV000440310 RCV000441607 RCV000434977 RCV000443964 RCV000439173 RCV000785338 RCV004022214

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.733G>C (p.Gly245Arg)

SNV
Germline/somatic

Chr17:7674230

Conflicting classifications of pathogenicity

Squamous cell lung carcinoma
Transitional cell carcinoma of the bladder
Prostate adenocarcinoma
Gastric adenocarcinoma
Carcinoma of esophagus
Breast neoplasm
Neoplasm of the large intestine
Squamous cell carcinoma of the head and neck
Uterine carcinosarcoma
Pancreatic adenocarcinoma
Neoplasm of brain
Ovarian serous cystadenocarcinoma
Hepatocellular carcinoma
Lung adenocarcinoma
Brainstem glioma
Glioblastoma
Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Conflicting Classifications

CA16603025

rs_28934575

4 SubmittersRCV000418277 RCV000420527 RCV000419444 RCV000424643 RCV000425790 RCV000426804 RCV000429713 RCV000432081 RCV000430767 RCV000431462 RCV000436041 RCV000437043 RCV000439119 RCV000441708 RCV000444043 RCV000444128 RCV000633351 RCV001026295 RCV004022215

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

SNV
Germline/somatic

Chr17:7673824

Pathogenic

Glioblastoma
Breast neoplasm
Lung adenocarcinoma
Neoplasm of the large intestine
Malignant melanoma of skin
Transitional cell carcinoma of the bladder
Ovarian serous cystadenocarcinoma
Carcinoma of esophagus
Neoplasm of brain
Squamous cell carcinoma of the skin
Squamous cell lung carcinoma
Uterine carcinosarcoma
B-cell chronic lymphocytic leukemia
Squamous cell carcinoma of the head and neck
Pancreatic adenocarcinoma
Malignant neoplasm of body of uterus
Hepatocellular carcinoma
Small cell lung carcinoma
Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16603026

rs_1057519990

4 SubmittersRCV000419323 RCV000420436 RCV000419956 RCV000421105 RCV000422610 RCV000426767 RCV000425613 RCV000426755 RCV000430688 RCV000431795 RCV000432420 RCV000431342 RCV000435860 RCV000437000 RCV000439845 RCV000439191 RCV000441587 RCV000444661 RCV000803659 RCV001027017 RCV002289526

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

SNV
Germline/somatic

Chr17:7675076

Conflicting classifications of pathogenicity

Glioblastoma
Hepatocellular carcinoma
Squamous cell carcinoma of the head and neck
Squamous cell lung carcinoma
Pancreatic adenocarcinoma
Neoplasm of brain
Acute myeloid leukemia
Gallbladder carcinoma
Small cell lung carcinoma
Neoplasm of the large intestine
Breast neoplasm
Uterine carcinosarcoma
Lung adenocarcinoma
Squamous cell carcinoma of the skin
Malignant neoplasm of body of uterus
Ovarian serous cystadenocarcinoma
Carcinoma of esophagus
Li-Fraumeni syndrome
Gastric adenocarcinoma
Malignant melanoma of skin
Hereditary cancer-predisposing syndrome
Neoplasm of ovary
Condition: not provided
TP53-related disorder
Li-Fraumeni syndrome 1

Criteria Provided
Conflicting Classifications

CA16603027

rs_1057519991

9 SubmittersRCV000420789 RCV000417695 RCV000417973 RCV000427175 RCV000433943 RCV000437826 RCV000433227 RCV000438042 RCV000443785 RCV000438407 RCV000439947 RCV000440632 RCV000421853 RCV000423292 RCV000426502 RCV000428674 RCV000429260 RCV000529132 RCV000432550 RCV000445268 RCV001023983 RCV000785555 RCV001591055 RCV003983035 RCV004022216

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

SNV
Germline/somatic

Chr17:7675075

Pathogenic/Likely pathogenic

Acute myeloid leukemia
Squamous cell carcinoma of the skin
Gallbladder carcinoma
Squamous cell lung carcinoma
Malignant melanoma of skin
Neoplasm of brain
Gastric adenocarcinoma
Glioblastoma
Lung adenocarcinoma
Malignant neoplasm of body of uterus
Small cell lung carcinoma
Pancreatic adenocarcinoma
Ovarian serous cystadenocarcinoma
Squamous cell carcinoma of the head and neck
Neoplasm of the large intestine
Hepatocellular carcinoma
Uterine carcinosarcoma
Breast neoplasm
Carcinoma of esophagus
Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Li-Fraumeni syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16603028

rs_876660821

7 SubmittersRCV000419975 RCV000420594 RCV000421045 RCV000421558 RCV000423857 RCV000425641 RCV000425896 RCV000428479 RCV000431364 RCV000429821 RCV000431267 RCV000436580 RCV000437195 RCV000436952 RCV000439103 RCV000441082 RCV000444017 RCV000444951 RCV000444976 RCV000815181 RCV001293868 RCV002264935 RCV002289527

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>A (p.His179Asn)

SNV
Germline/somatic

Chr17:7675077

Conflicting classifications of pathogenicity

Uterine carcinosarcoma
Malignant neoplasm of body of uterus
Lung adenocarcinoma
Small cell lung carcinoma
Carcinoma of esophagus
Squamous cell carcinoma of the skin
Neoplasm of the large intestine
Neoplasm of brain
Acute myeloid leukemia
Pancreatic adenocarcinoma
Hepatocellular carcinoma
Glioblastoma
Squamous cell carcinoma of the head and neck
Gallbladder carcinoma
Ovarian serous cystadenocarcinoma
Malignant melanoma of skin
Gastric adenocarcinoma
Breast neoplasm
Squamous cell lung carcinoma
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Condition: not provided
Li-Fraumeni syndrome 1

Criteria Provided
Conflicting Classifications

CA16603030

rs_587780070

5 SubmittersRCV000419091 RCV000418067 RCV000419301 RCV000422109 RCV000422797 RCV000424599 RCV000424807 RCV000427824 RCV000429415 RCV000430449 RCV000433706 RCV000434154 RCV000433494 RCV000435925 RCV000434865 RCV000440508 RCV000440898 RCV000445154 RCV000444321 RCV000564826 RCV000695193 RCV001575036 RCV004022218

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.536A>C (p.His179Pro)

SNV
Germline/somatic

Chr17:7675076

Conflicting classifications of pathogenicity

Malignant neoplasm of body of uterus
Squamous cell lung carcinoma
Pancreatic adenocarcinoma
Uterine carcinosarcoma
Glioblastoma
Squamous cell carcinoma of the head and neck
Small cell lung carcinoma
Acute myeloid leukemia
Neoplasm of brain
Carcinoma of esophagus
Squamous cell carcinoma of the skin
Malignant melanoma of skin
Breast neoplasm
Gallbladder carcinoma
Hepatocellular carcinoma
Neoplasm of the large intestine
Ovarian serous cystadenocarcinoma
Lung adenocarcinoma
Gastric adenocarcinoma
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome

Criteria Provided
Conflicting Classifications

CA16603032

rs_1057519991

3 SubmittersRCV000420510 RCV000421224 RCV000421433 RCV000422328 RCV000426919 RCV000427172 RCV000427925 RCV000428125 RCV000431234 RCV000432547 RCV000433456 RCV000434884 RCV000437164 RCV000439058 RCV000438275 RCV000441519 RCV000444604 RCV000444694 RCV000443703 RCV001023982 RCV001861483

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

SNV
Germline/somatic

Chr17:7674953

Pathogenic

Neoplasm of the large intestine
Prostate adenocarcinoma
Carcinoma of esophagus
Small cell lung carcinoma
Squamous cell lung carcinoma
Papillary renal cell carcinoma, sporadic
Gastric adenocarcinoma
Acute myeloid leukemia
Pancreatic adenocarcinoma
Brainstem glioma
Transitional cell carcinoma of the bladder
Lung adenocarcinoma
Squamous cell carcinoma of the head and neck
B-cell chronic lymphocytic leukemia
Neoplasm of brain
Breast neoplasm
Uterine carcinosarcoma
Malignant neoplasm of body of uterus
Hepatocellular carcinoma
Ovarian serous cystadenocarcinoma
Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA16603033

rs_786201838

5 SubmittersRCV000417520 RCV000418213 RCV000422374 RCV000422912 RCV000423516 RCV000424851 RCV000429577 RCV000427668 RCV000428197 RCV000428877 RCV000434205 RCV000433585 RCV000434933 RCV000435420 RCV000435566 RCV000440128 RCV000439568 RCV000442541 RCV000444985 RCV000445292 RCV000991151 RCV001525967

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

SNV
Germline/somatic

Chr17:7674954

Conflicting classifications of pathogenicity

Uterine carcinosarcoma
Gastric adenocarcinoma
Neoplasm of the large intestine
Squamous cell carcinoma of the head and neck
Hepatocellular carcinoma
Transitional cell carcinoma of the bladder
Lung adenocarcinoma
Brainstem glioma
Carcinoma of esophagus
Pancreatic adenocarcinoma
Small cell lung carcinoma
B-cell chronic lymphocytic leukemia
Neoplasm of brain
Breast neoplasm
Acute myeloid leukemia
Ovarian serous cystadenocarcinoma
Malignant neoplasm of body of uterus
Papillary renal cell carcinoma, sporadic
Squamous cell lung carcinoma
Prostate adenocarcinoma
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Conflicting Classifications

CA16603034

rs_876658468

3 SubmittersRCV000418378 RCV000419005 RCV000419924 RCV000421156 RCV000423999 RCV000425273 RCV000425552 RCV000425919 RCV000430614 RCV000431849 RCV000429967 RCV000432462 RCV000436250 RCV000434704 RCV000436620 RCV000438391 RCV000440641 RCV000441340 RCV000442175 RCV000444718 RCV003509527 RCV004022219

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

SNV
Germline/somatic

Chr17:7674890

Likely pathogenic

Papillary renal cell carcinoma type 1
Squamous cell lung carcinoma
Carcinoma of esophagus
Gastric adenocarcinoma
Pancreatic adenocarcinoma
Hepatocellular carcinoma
Ovarian serous cystadenocarcinoma
Glioblastoma
Transitional cell carcinoma of the bladder
Neoplasm of the large intestine
B-cell chronic lymphocytic leukemia
Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Li-Fraumeni syndrome 1

Reviewed By Expert Panel

CA16040595

rs_1057519992

8 SubmittersRCV000417658 RCV000418330 RCV000422504 RCV000427653 RCV000429028 RCV000428396 RCV000429736 RCV000439733 RCV000434864 RCV000435583 RCV000445232 RCV000477234 RCV000492372 RCV001584113 RCV004022220

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

SNV
Germline/somatic

Chr17:7674948

Conflicting classifications of pathogenicity

Acute myeloid leukemia
Neoplasm of brain
Breast neoplasm
Glioblastoma
Squamous cell carcinoma of the head and neck
Hepatocellular carcinoma
Uterine carcinosarcoma
Lung adenocarcinoma
Pancreatic adenocarcinoma
Carcinoma of esophagus
Gastric adenocarcinoma
Multiple myeloma
Ovarian serous cystadenocarcinoma
Squamous cell lung carcinoma
B-cell chronic lymphocytic leukemia
Neoplasm of the large intestine
Malignant tumor of esophagus
Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA16603037

rs_942158624

5 SubmittersRCV000417891 RCV000418677 RCV000420717 RCV000425266 RCV000423573 RCV000428137 RCV000426094 RCV000426791 RCV000430955 RCV000433525 RCV000433861 RCV000435534 RCV000436319 RCV000438337 RCV000441219 RCV000444892 RCV001270271 RCV001345722 RCV002356515 RCV003329275

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

SNV
Germline/somatic

Chr17:7674947

Conflicting classifications of pathogenicity

Glioblastoma
Acute myeloid leukemia
Hepatocellular carcinoma
Squamous cell lung carcinoma
B-cell chronic lymphocytic leukemia
Uterine carcinosarcoma
Neoplasm of the large intestine
Carcinoma of esophagus
Gastric adenocarcinoma
Ovarian serous cystadenocarcinoma
Pancreatic adenocarcinoma
Multiple myeloma
Lung adenocarcinoma
Breast neoplasm
Neoplasm of brain
Li-Fraumeni syndrome
Squamous cell carcinoma of the head and neck
Neoplasm of ovary
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Conflicting Classifications

CA16603038

rs_760043106

5 SubmittersRCV000417492 RCV000419606 RCV000420311 RCV000422932 RCV000425779 RCV000427719 RCV000424894 RCV000430554 RCV000432578 RCV000435160 RCV000433212 RCV000437965 RCV000440578 RCV000440765 RCV000444669 RCV000692717 RCV000442006 RCV000785514 RCV001024599 RCV002289528

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

SNV
Germline/somatic

Chr17:7674947

Conflicting classifications of pathogenicity

Glioblastoma
Breast neoplasm
B-cell chronic lymphocytic leukemia
Uterine carcinosarcoma
Neoplasm of brain
Squamous cell lung carcinoma
Hepatocellular carcinoma
Acute myeloid leukemia
Pancreatic adenocarcinoma
Squamous cell carcinoma of the head and neck
Ovarian serous cystadenocarcinoma
Lung adenocarcinoma
Gastric adenocarcinoma
Carcinoma of esophagus
Multiple myeloma
Neoplasm of the large intestine
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Conflicting Classifications

CA16603039

rs_760043106

3 SubmittersRCV000421805 RCV000421312 RCV000422467 RCV000427622 RCV000426991 RCV000429226 RCV000431547 RCV000429901 RCV000432185 RCV000437865 RCV000437242 RCV000439461 RCV000440129 RCV000442296 RCV000442729 RCV000445057 RCV001184465 RCV004022221

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

SNV
Germline/somatic

Chr17:7674200

Conflicting classifications of pathogenicity

Neoplasm of brain
Breast neoplasm
Lung adenocarcinoma
Carcinoma of esophagus
Glioblastoma
B-cell chronic lymphocytic leukemia
Pancreatic adenocarcinoma
Li-Fraumeni syndrome
Neoplasm of ovary
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Conflicting Classifications

CA16603041

rs_1057519995

5 SubmittersRCV000418615 RCV000428426 RCV000425759 RCV000436027 RCV000435616 RCV000436676 RCV000444896 RCV001301950 RCV000785451 RCV002392946 RCV004022222

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

SNV
Germline/somatic

Chr17:7675216

Likely pathogenic

Lung adenocarcinoma
Multiple myeloma
Breast neoplasm
Squamous cell carcinoma of the head and neck
Neoplasm of the large intestine
Uterine carcinosarcoma
Squamous cell lung carcinoma
Transitional cell carcinoma of the bladder
Ovarian serous cystadenocarcinoma
Pancreatic adenocarcinoma
Adrenal cortex carcinoma
Carcinoma of esophagus
Glioblastoma
Gastric adenocarcinoma
Neoplasm of brain
Neoplasm of uterine cervix
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1

Reviewed By Expert Panel

CA16603044

rs_866775781

5 SubmittersRCV000419339 RCV000422634 RCV000421516 RCV000424592 RCV000427056 RCV000430184 RCV000430063 RCV000432417 RCV000434424 RCV000432219 RCV000437720 RCV000439586 RCV000439834 RCV000440843 RCV000442346 RCV000442734 RCV000709407 RCV004022223

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

SNV
Germline/somatic

Chr17:7675217

Pathogenic/Likely pathogenic

Neoplasm of brain
Transitional cell carcinoma of the bladder
Multiple myeloma
Adrenal cortex carcinoma
Uterine carcinosarcoma
Gastric adenocarcinoma
Ovarian serous cystadenocarcinoma
Breast neoplasm
Squamous cell carcinoma of the head and neck
Neoplasm of uterine cervix
Carcinoma of esophagus
Pancreatic adenocarcinoma
Lung adenocarcinoma
Glioblastoma
Li-Fraumeni syndrome
Neoplasm of the large intestine
Squamous cell lung carcinoma
Neoplasm of ovary
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16603045

rs_1057519996

6 SubmittersRCV000419418 RCV000421674 RCV000423130 RCV000418417 RCV000424246 RCV000419619 RCV000429087 RCV000428190 RCV000426827 RCV000429251 RCV000434074 RCV000438897 RCV000436453 RCV000443007 RCV000471183 RCV000436660 RCV000441520 RCV000785521 RCV002356517 RCV004022224

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

SNV
Germline/somatic

Chr17:7675218

Conflicting classifications of pathogenicity

Ovarian serous cystadenocarcinoma
Squamous cell carcinoma of the head and neck
Neoplasm of the large intestine
Multiple myeloma
Breast neoplasm
Transitional cell carcinoma of the bladder
Uterine carcinosarcoma
Pancreatic adenocarcinoma
Neoplasm of uterine cervix
Neoplasm of brain
Carcinoma of esophagus
Adrenal cortex carcinoma
Lung adenocarcinoma
Squamous cell lung carcinoma
Glioblastoma
Gastric adenocarcinoma
Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA002647

rs_747342068

7 SubmittersRCV000417803 RCV000417874 RCV000423644 RCV000425237 RCV000426379 RCV000430828 RCV000428580 RCV000431096 RCV000433855 RCV000436180 RCV000434893 RCV000435981 RCV000440656 RCV000441816 RCV000442199 RCV000444903 RCV000468362 RCV000562533 RCV001253548 RCV004017609

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

SNV
Germline/somatic

Chr17:7675217

Conflicting classifications of pathogenicity

Uterine carcinosarcoma
Glioblastoma
Neoplasm of the large intestine
Neoplasm of uterine cervix
Transitional cell carcinoma of the bladder
Multiple myeloma
Breast neoplasm
Carcinoma of esophagus
Gastric adenocarcinoma
Squamous cell lung carcinoma
Pancreatic adenocarcinoma
Lung adenocarcinoma
Neoplasm of brain
Adrenal cortex carcinoma
Squamous cell carcinoma of the head and neck
Ovarian serous cystadenocarcinoma
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome

Criteria Provided
Conflicting Classifications

CA16603046

rs_1057519996

3 SubmittersRCV000420694 RCV000419605 RCV000423393 RCV000422403 RCV000424547 RCV000425633 RCV000427017 RCV000430299 RCV000433243 RCV000433123 RCV000435461 RCV000437675 RCV000437910 RCV000443063 RCV000442106 RCV000442467 RCV004022225 RCV003621532

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.332T>C (p.Leu111Pro)

SNV
Germline/somatic

Chr17:7676037

Conflicting classifications of pathogenicity

Glioblastoma
Carcinoma of esophagus
Breast neoplasm
B-cell chronic lymphocytic leukemia
Hepatocellular carcinoma
Malignant melanoma of skin
Gastric adenocarcinoma
Squamous cell lung carcinoma
Li-Fraumeni syndrome
Neoplasm of ovary
Condition: not provided
Li-Fraumeni syndrome 1

Criteria Provided
Conflicting Classifications

CA16603049

rs_1057519997

5 SubmittersRCV000417617 RCV000425579 RCV000428739 RCV000425862 RCV000435274 RCV000435918 RCV000441916 RCV000442239 RCV000459042 RCV000785496 RCV000480700 RCV004022227

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

SNV
Germline/somatic

Chr17:7676037

Conflicting classifications of pathogenicity

Squamous cell lung carcinoma
Gastric adenocarcinoma
Malignant melanoma of skin
Hepatocellular carcinoma
Breast neoplasm
Carcinoma of esophagus
Glioblastoma
B-cell chronic lymphocytic leukemia
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Conflicting Classifications

CA16603051

rs_1057519997

3 SubmittersRCV000421931 RCV000424730 RCV000433045 RCV000433598 RCV000434970 RCV000442091 RCV000442462 RCV000443054 RCV001041362 RCV004022228

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

SNV
Germline/somatic

Chr17:7674950

Conflicting classifications of pathogenicity

Neoplasm of uterine cervix
Neoplasm of brain
Ovarian serous cystadenocarcinoma
Neoplasm of the large intestine
Squamous cell carcinoma of the head and neck
Breast neoplasm
Hepatocellular carcinoma
Lung adenocarcinoma
Transitional cell carcinoma of the bladder
Glioblastoma
Pancreatic adenocarcinoma
Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Colorectal cancer
Neoplasm of ovary
Li-Fraumeni syndrome 1

Criteria Provided
Conflicting Classifications

CA16044097

rs_1057519998

6 SubmittersRCV000419180 RCV000420755 RCV000422070 RCV000430366 RCV000424933 RCV000431014 RCV000428827 RCV000436915 RCV000439886 RCV000437791 RCV000440633 RCV000535418 RCV000561306 RCV001270270 RCV000785551 RCV004022229

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

SNV
Germline/somatic

Chr17:7674950

Conflicting classifications of pathogenicity

Ovarian serous cystadenocarcinoma
Breast neoplasm
Squamous cell carcinoma of the head and neck
Hepatocellular carcinoma
Glioblastoma
Neoplasm of uterine cervix
Neoplasm of the large intestine
Neoplasm of brain
Transitional cell carcinoma of the bladder
Pancreatic adenocarcinoma
Lung adenocarcinoma
Hereditary cancer-predisposing syndrome
Neoplasm of ovary
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Conflicting Classifications

CA16603052

rs_1057519998

5 SubmittersRCV000421586 RCV000426499 RCV000422209 RCV000427064 RCV000431615 RCV000431831 RCV000436747 RCV000434795 RCV000443531 RCV000442619 RCV000443173 RCV000565549 RCV000785543 RCV001376885 RCV004022230

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

SNV
Germline/somatic

Chr17:7674253

Pathogenic/Likely pathogenic

Squamous cell lung carcinoma
Malignant neoplasm of body of uterus
Squamous cell carcinoma of the head and neck
Gastric adenocarcinoma
Pancreatic adenocarcinoma
Neoplasm of brain
Lung adenocarcinoma
Breast neoplasm
Brainstem glioma
Carcinoma of esophagus
Ovarian serous cystadenocarcinoma
Neoplasm of the large intestine
Acute myeloid leukemia
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA001811

rs_765848205

4 SubmittersRCV000420529 RCV000422293 RCV000424589 RCV000427086 RCV000429783 RCV000432913 RCV000435309 RCV000436968 RCV000437739 RCV000442354 RCV000442966 RCV000443369 RCV002509381 RCV002524697 RCV004022231

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

SNV
Germline/somatic

Chr17:7674247

Likely pathogenic

Lung adenocarcinoma
Squamous cell carcinoma of the head and neck
Ovarian serous cystadenocarcinoma
Uterine carcinosarcoma
Prostate adenocarcinoma
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Condition: not provided
Neoplasm of the large intestine
Papillary renal cell carcinoma type 1
Malignant neoplasm of body of uterus
Breast neoplasm
Gastric adenocarcinoma
Hepatocellular carcinoma
Li-Fraumeni syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16603054

rs_1057519999

6 SubmittersRCV000427640 RCV000429581 RCV000436108 RCV000437044 RCV000442626 RCV000567507 RCV001851021 RCV002510885 RCV000418854 RCV000420011 RCV000426368 RCV000428926 RCV000438332 RCV000438482 RCV002289529

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

SNV
Germline/somatic

Chr17:7674247

Conflicting classifications of pathogenicity

Papillary renal cell carcinoma type 1
Neoplasm of the large intestine
Lung adenocarcinoma
Squamous cell carcinoma of the head and neck
Uterine carcinosarcoma
Prostate adenocarcinoma
Ovarian serous cystadenocarcinoma
Gastric adenocarcinoma
Breast neoplasm
Malignant neoplasm of body of uterus
Hepatocellular carcinoma
Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA16603055

rs_1057519999

3 SubmittersRCV000420547 RCV000417510 RCV000418162 RCV000424579 RCV000425771 RCV000430564 RCV000436479 RCV000435297 RCV000431205 RCV000441278 RCV000442232 RCV000633336 RCV002374626

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

SNV
Germline/somatic

Chr17:7675160

Pathogenic/Likely pathogenic

Pancreatic adenocarcinoma
Transitional cell carcinoma of the bladder
Neoplasm of the large intestine
Squamous cell carcinoma of the head and neck
Ovarian serous cystadenocarcinoma
Gastric adenocarcinoma
Hepatocellular carcinoma
Multiple myeloma
Neoplasm of brain
Uterine carcinosarcoma
Malignant melanoma of skin
Malignant neoplasm of body of uterus
Squamous cell lung carcinoma
Lung adenocarcinoma
Adenoid cystic carcinoma
Carcinoma of esophagus
Breast neoplasm
Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16603057

rs_1057520000

4 SubmittersRCV000418846 RCV000419325 RCV000419958 RCV000421526 RCV000424514 RCV000425600 RCV000423715 RCV000430235 RCV000431352 RCV000435893 RCV000434196 RCV000435439 RCV000436541 RCV000439174 RCV000441608 RCV000440477 RCV000443101 RCV000633382 RCV003168617 RCV004022232

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

SNV
Germline/somatic

Chr17:7675161

Pathogenic

Breast neoplasm
Uterine carcinosarcoma
Neoplasm of the large intestine
Neoplasm of brain
Squamous cell carcinoma of the head and neck
Multiple myeloma
Hepatocellular carcinoma
Squamous cell lung carcinoma
Adenoid cystic carcinoma
Pancreatic adenocarcinoma
Malignant neoplasm of body of uterus
Ovarian serous cystadenocarcinoma
Malignant melanoma of skin
Carcinoma of esophagus
Transitional cell carcinoma of the bladder
Lung adenocarcinoma
Gastric adenocarcinoma
Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA16603058

rs_28934874

3 SubmittersRCV000418125 RCV000419693 RCV000420971 RCV000420838 RCV000425371 RCV000428371 RCV000426064 RCV000426471 RCV000431059 RCV000432886 RCV000431789 RCV000436762 RCV000437396 RCV000438632 RCV000441351 RCV000443299 RCV000443386 RCV000459465 RCV002338981

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

SNV
Germline/somatic

Chr17:7673788

Pathogenic/Likely pathogenic

Squamous cell carcinoma of the skin
Squamous cell carcinoma of the head and neck
Malignant melanoma of skin
Lung adenocarcinoma
Carcinoma of esophagus
Malignant neoplasm of body of uterus
Ovarian serous cystadenocarcinoma
Neoplasm of brain
Squamous cell lung carcinoma
Multiple myeloma
Breast neoplasm
Neoplasm of the large intestine
Condition: not provided
Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Pancreatic adenocarcinoma
Neoplasm of ovary
Li-Fraumeni syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16603059

rs_17849781

7 SubmittersRCV000421997 RCV000426679 RCV000427094 RCV000427714 RCV000432977 RCV000433428 RCV000437941 RCV000432228 RCV000442821 RCV000443572 RCV000435645 RCV000444293 RCV000522600 RCV000633344 RCV000562528 RCV000439725 RCV000785527 RCV004022233

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

SNV
Germline/somatic

Chr17:7673788

Pathogenic/Likely pathogenic

Lung adenocarcinoma
Malignant neoplasm of body of uterus
Multiple myeloma
Breast neoplasm
Ovarian serous cystadenocarcinoma
Squamous cell lung carcinoma
Malignant melanoma of skin
Neoplasm of brain
Carcinoma of esophagus
Neoplasm of the large intestine
Pancreatic adenocarcinoma
Squamous cell carcinoma of the head and neck
Poly (ADP-Ribose) polymerase inhibitor response
Neoplasm of ovary
Squamous cell carcinoma of the skin
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16603060

rs_17849781

6 SubmittersRCV000419944 RCV000418460 RCV000429755 RCV000425201 RCV000425878 RCV000429149 RCV000433992 RCV000436548 RCV000437214 RCV000435065 RCV000442861 RCV000440415 RCV000626445 RCV000785511 RCV000442983 RCV002429348 RCV002524698 RCV004022234

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

SNV
Germline/somatic

Chr17:7673787

Conflicting classifications of pathogenicity

Neoplasm of the large intestine
Squamous cell lung carcinoma
Carcinoma of esophagus
Malignant neoplasm of body of uterus
Lung adenocarcinoma
Ovarian serous cystadenocarcinoma
Squamous cell carcinoma of the skin
Pancreatic adenocarcinoma
Malignant melanoma of skin
Neoplasm of brain
Multiple myeloma
Squamous cell carcinoma of the head and neck
Breast neoplasm
Hereditary cancer-predisposing syndrome
Condition: not provided
Neoplasm of ovary
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Conflicting Classifications

CA16603061

rs_876659802

7 SubmittersRCV000420956 RCV000424036 RCV000423863 RCV000431661 RCV000431945 RCV000425930 RCV000426582 RCV000431305 RCV000441126 RCV000432244 RCV000444083 RCV000443337 RCV000443990 RCV000572417 RCV000681956 RCV000785498 RCV000797363 RCV002289530

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

SNV
Germline/somatic

Chr17:7673788

Conflicting classifications of pathogenicity

Squamous cell carcinoma of the skin
Pancreatic adenocarcinoma
Neoplasm of brain
Squamous cell lung carcinoma
Carcinoma of esophagus
Squamous cell carcinoma of the head and neck
Malignant melanoma of skin
Ovarian serous cystadenocarcinoma
Multiple myeloma
Malignant neoplasm of body of uterus
Neoplasm of the large intestine
Lung adenocarcinoma
Hereditary cancer-predisposing syndrome
Breast neoplasm
Li-Fraumeni syndrome
Neoplasm of ovary
Condition: not provided
Li-Fraumeni syndrome 1

Criteria Provided
Conflicting Classifications

CA16603062

rs_17849781

6 SubmittersRCV000419216 RCV000417926 RCV000420739 RCV000422309 RCV000426460 RCV000427997 RCV000430547 RCV000433017 RCV000437350 RCV000438674 RCV000439356 RCV000437992 RCV000567850 RCV000441270 RCV000688854 RCV000785477 RCV001584114 RCV004022235

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.523C>G (p.Arg175Gly)

SNV
Germline/somatic

Chr17:7675089

Pathogenic/Likely pathogenic

Malignant neoplasm of body of uterus
Neoplasm of the large intestine
Brainstem glioma
Hepatocellular carcinoma
Ovarian serous cystadenocarcinoma
Nasopharyngeal neoplasm
Transitional cell carcinoma of the bladder
Carcinoma of esophagus
Breast neoplasm
Pancreatic adenocarcinoma
Glioblastoma
Neoplasm of brain
Lung adenocarcinoma
Squamous cell lung carcinoma
Squamous cell carcinoma of the head and neck
Medulloblastoma
Prostate adenocarcinoma
Malignant melanoma of skin
Gastric adenocarcinoma
B-cell chronic lymphocytic leukemia
Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Neoplasm of ovary
Uterine carcinosarcoma
Gallbladder carcinoma
Condition: not provided
Li-Fraumeni syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16603066

rs_138729528

7 SubmittersRCV000420706 RCV000419625 RCV000421238 RCV000421436 RCV000426938 RCV000424235 RCV000420923 RCV000425355 RCV000430584 RCV000428548 RCV000432831 RCV000436759 RCV000430740 RCV000430935 RCV000436078 RCV000438570 RCV000437498 RCV000441260 RCV000432105 RCV000444111 RCV000459914 RCV000573315 RCV000785486 RCV000443278 RCV000444080 RCV001584115 RCV002289532

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

SNV
Germline/somatic

Chr17:7674893

Conflicting classifications of pathogenicity

Adrenal cortex carcinoma
Malignant melanoma of skin
Uterine carcinosarcoma
Neoplasm of brain
Neoplasm of the large intestine
Hepatocellular carcinoma
Papillary renal cell carcinoma type 1
Breast neoplasm
Carcinoma of esophagus
Glioblastoma
Pancreatic adenocarcinoma
Squamous cell carcinoma of the head and neck
Transitional cell carcinoma of the bladder
Squamous cell lung carcinoma
Gastric adenocarcinoma
Squamous cell carcinoma of the skin
Adenoid cystic carcinoma
Prostate adenocarcinoma
Lung adenocarcinoma
Nasopharyngeal neoplasm
Ovarian serous cystadenocarcinoma
Malignant neoplasm of body of uterus
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Conflicting Classifications

CA16603067

rs_587778720

3 SubmittersRCV000417467 RCV000418814 RCV000418608 RCV000421737 RCV000422458 RCV000422684 RCV000428488 RCV000428624 RCV000428841 RCV000427240 RCV000427500 RCV000433789 RCV000432738 RCV000435387 RCV000435132 RCV000437481 RCV000438469 RCV000439587 RCV000439979 RCV000443648 RCV000444469 RCV000445195 RCV001371092 RCV004022236

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

SNV
Germline/somatic

Chr17:7674894

Conflicting classifications of pathogenicity

Hepatocellular carcinoma
Malignant neoplasm of body of uterus
Glioblastoma
Squamous cell carcinoma of the head and neck
Malignant melanoma of skin
Neoplasm of the large intestine
Carcinoma of esophagus
Adenoid cystic carcinoma
Pancreatic adenocarcinoma
Adrenal cortex carcinoma
Papillary renal cell carcinoma type 1
Ovarian serous cystadenocarcinoma
Neoplasm of brain
Gastric adenocarcinoma
Squamous cell carcinoma of the skin
Transitional cell carcinoma of the bladder
Uterine carcinosarcoma
Nasopharyngeal neoplasm
Squamous cell lung carcinoma
Prostate adenocarcinoma
Lung adenocarcinoma
Breast neoplasm
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Conflicting Classifications

CA16603068

rs_397516436

4 SubmittersRCV000417479 RCV000419627 RCV000420272 RCV000421648 RCV000421524 RCV000425630 RCV000424254 RCV000426157 RCV000426799 RCV000428823 RCV000428146 RCV000431481 RCV000430949 RCV000432206 RCV000432863 RCV000436862 RCV000438186 RCV000437472 RCV000438834 RCV000438677 RCV000444193 RCV000444980 RCV002356518 RCV002524699 RCV004022237

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

SNV
Germline/somatic

Chr17:7674221

Pathogenic/Likely pathogenic

Uterine carcinosarcoma
Pancreatic adenocarcinoma
Breast neoplasm
Neoplasm of the large intestine
Squamous cell lung carcinoma
Ovarian serous cystadenocarcinoma
Multiple myeloma
B-cell chronic lymphocytic leukemia
Brainstem glioma
Malignant melanoma of skin
Squamous cell carcinoma of the head and neck
Transitional cell carcinoma of the bladder
Myelodysplastic syndrome
Malignant neoplasm of body of uterus
Small cell lung carcinoma
Carcinoma of esophagus
Acute myeloid leukemia
Neoplasm of brain
Prostate adenocarcinoma
Hepatocellular carcinoma
Gastric adenocarcinoma
Medulloblastoma
Glioblastoma
Lung adenocarcinoma
Squamous cell carcinoma of the skin
Li-Fraumeni syndrome
Carcinoma of colon
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16603069

rs_121912651

5 SubmittersRCV000417693 RCV000418362 RCV000420498 RCV000422668 RCV000423297 RCV000425782 RCV000424776 RCV000425100 RCV000425394 RCV000427544 RCV000427948 RCV000430735 RCV000432931 RCV000432207 RCV000433611 RCV000435353 RCV000435050 RCV000436038 RCV000437882 RCV000441010 RCV000441711 RCV000440334 RCV000444356 RCV000444519 RCV000444427 RCV000633396 RCV000626118 RCV001026425 RCV004022238

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

SNV
Germline/somatic

Chr17:7674217

Conflicting classifications of pathogenicity

Squamous cell carcinoma of the skin
Gastric adenocarcinoma
Hepatocellular carcinoma
Small cell lung carcinoma
Lung adenocarcinoma
Malignant neoplasm of body of uterus
Glioblastoma
Ovarian serous cystadenocarcinoma
Medulloblastoma
Prostate adenocarcinoma
Squamous cell carcinoma of the head and neck
Carcinoma of esophagus
Squamous cell lung carcinoma
Uterine carcinosarcoma
Pancreatic adenocarcinoma
Li-Fraumeni syndrome
Neoplasm of ovary
Li-Fraumeni syndrome 1

Criteria Provided
Conflicting Classifications

CA16603070

rs_587782329

5 SubmittersRCV000419533 RCV000420945 RCV000421561 RCV000420239 RCV000422393 RCV000430463 RCV000434651 RCV000428988 RCV000429799 RCV000439247 RCV000437240 RCV000431805 RCV000445070 RCV000445103 RCV000440059 RCV000690948 RCV000782360 RCV004022239

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

SNV
Germline/somatic

Chr17:7674218

Conflicting classifications of pathogenicity

Gastric adenocarcinoma
Prostate adenocarcinoma
Carcinoma of esophagus
Lung adenocarcinoma
Uterine carcinosarcoma
Hepatocellular carcinoma
Glioblastoma
Squamous cell lung carcinoma
Squamous cell carcinoma of the head and neck
Small cell lung carcinoma
Pancreatic adenocarcinoma
Malignant neoplasm of body of uterus
Squamous cell carcinoma of the skin
Ovarian serous cystadenocarcinoma
Medulloblastoma
Condition: not provided
Neoplasm of ovary
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Conflicting Classifications

CA16603071

rs_587782082

7 SubmittersRCV000419254 RCV000418381 RCV000423993 RCV000426656 RCV000421216 RCV000427933 RCV000427287 RCV000429532 RCV000428633 RCV000436273 RCV000438863 RCV000436898 RCV000441694 RCV000444068 RCV000437517 RCV000581522 RCV000785305 RCV001026460 RCV000467567 RCV002289533

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

SNV
Germline/somatic

Chr17:7673802

Pathogenic

Pancreatic adenocarcinoma
Neoplasm of brain
Neoplasm of the large intestine
Adrenal cortex carcinoma
Squamous cell carcinoma of the head and neck
Medulloblastoma
B-cell chronic lymphocytic leukemia
Brainstem glioma
Lung adenocarcinoma
Malignant neoplasm of body of uterus
Acute myeloid leukemia
Malignant melanoma of skin
Multiple myeloma
Prostate adenocarcinoma
Carcinoma of esophagus
Gastric adenocarcinoma
Small cell lung carcinoma
Squamous cell lung carcinoma
Breast neoplasm
Uterine carcinosarcoma
Hepatocellular carcinoma
Ovarian serous cystadenocarcinoma
Hereditary cancer-predisposing syndrome
Metastatic pancreatic neuroendocrine tumours
Li-Fraumeni syndrome
Neoplasm of ovary
Transitional cell carcinoma of the bladder
Glioblastoma
Condition: not provided
Li-Fraumeni syndrome 1
12 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA001530

rs_28934576

9 SubmittersRCV000418536 RCV000418738 RCV000423633 RCV000426132 RCV000421259 RCV000425890 RCV000423490 RCV000428692 RCV000423981 RCV000429444 RCV000433315 RCV000427314 RCV000436818 RCV000431067 RCV000434296 RCV000437048 RCV000435767 RCV000442241 RCV000438507 RCV000441792 RCV000434695 RCV000444109 RCV000568814 RCV000515526 RCV000822080 RCV000785524 RCV000444782 RCV000444989 RCV001539823 RCV002289534 RCV002502455

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

SNV
Germline/somatic

Chr17:7673803

Pathogenic

Lung adenocarcinoma
Glioblastoma
Ovarian serous cystadenocarcinoma
B-cell chronic lymphocytic leukemia
Malignant neoplasm of body of uterus
Hepatocellular carcinoma
Neoplasm of brain
Medulloblastoma
Malignant melanoma of skin
Squamous cell carcinoma of the head and neck
Brainstem glioma
Small cell lung carcinoma
Carcinoma of esophagus
Adrenal cortex carcinoma
Multiple myeloma
Prostate adenocarcinoma
Pancreatic adenocarcinoma
Squamous cell lung carcinoma
Neoplasm of the large intestine
Gastric adenocarcinoma
Uterine carcinosarcoma
Acute myeloid leukemia
Breast neoplasm
Transitional cell carcinoma of the bladder
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA001542

rs_121913343

5 SubmittersRCV000418085 RCV000420280 RCV000420482 RCV000422550 RCV000422795 RCV000424918 RCV000425669 RCV000427515 RCV000427884 RCV000431180 RCV000430119 RCV000431455 RCV000432372 RCV000435074 RCV000433489 RCV000435480 RCV000436543 RCV000438218 RCV000439774 RCV000440794 RCV000440997 RCV000444595 RCV000445287 RCV000445314 RCV000561782 RCV000698744 RCV002289535

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

SNV
Germline/somatic

Chr17:7673781

Conflicting classifications of pathogenicity

Malignant melanoma of skin
Hepatocellular carcinoma
Squamous cell carcinoma of the head and neck
Squamous cell lung carcinoma
Lung adenocarcinoma
Neoplasm of uterine cervix
Ovarian serous cystadenocarcinoma
Breast neoplasm
Squamous cell carcinoma of the skin
Nasopharyngeal neoplasm
Uterine carcinosarcoma
Gastric adenocarcinoma
Carcinoma of esophagus
Acute myeloid leukemia
Neoplasm of brain
Transitional cell carcinoma of the bladder
Small cell lung carcinoma
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome

Criteria Provided
Conflicting Classifications

CA16603072

rs_121912660

4 SubmittersRCV000418023 RCV000425366 RCV000423448 RCV000423739 RCV000423933 RCV000428952 RCV000428734 RCV000431165 RCV000433592 RCV000433708 RCV000436148 RCV000436528 RCV000438568 RCV000440980 RCV000442077 RCV000444685 RCV000444610 RCV000492483 RCV000633356

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.845G>C (p.Arg282Pro)

SNV
Germline/somatic

Chr17:7673775

Pathogenic/Likely pathogenic

Neoplasm of brain
Non-Hodgkin lymphoma
Squamous cell carcinoma of the skin
Gastric adenocarcinoma
Transitional cell carcinoma of the bladder
Lung adenocarcinoma
Ovarian serous cystadenocarcinoma
Malignant melanoma of skin
Papillary renal cell carcinoma type 1
Glioblastoma
Prostate adenocarcinoma
Hepatocellular carcinoma
Pancreatic adenocarcinoma
Squamous cell lung carcinoma
Malignant neoplasm of body of uterus
Carcinoma of esophagus
Neoplasm of the large intestine
Breast neoplasm
Squamous cell carcinoma of the head and neck
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1
12 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA16603074

rs_730882008

8 SubmittersRCV000417824 RCV000417919 RCV000419006 RCV000424978 RCV000423005 RCV000426071 RCV000423789 RCV000425389 RCV000427957 RCV000428608 RCV000432620 RCV000434763 RCV000435036 RCV000433722 RCV000438637 RCV000440221 RCV000441023 RCV000441861 RCV000442220 RCV000492764 RCV000709402 RCV002289536 RCV002502456

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

SNV
Germline/somatic

Chr17:7674887

Conflicting classifications of pathogenicity

Hepatocellular carcinoma
Small cell lung carcinoma
Lung adenocarcinoma
Pancreatic adenocarcinoma
Breast neoplasm
Acute myeloid leukemia
Carcinoma of esophagus
Gastric adenocarcinoma
Ovarian serous cystadenocarcinoma
Neoplasm of ovary
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome

Criteria Provided
Conflicting Classifications

CA16603075

rs_587782177

4 SubmittersRCV000420881 RCV000420217 RCV000423272 RCV000430889 RCV000435696 RCV000429840 RCV000441630 RCV000433950 RCV000440493 RCV000785347 RCV001025280 RCV003509529

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

SNV
Germline/somatic

Chr17:7674886

Conflicting classifications of pathogenicity

Breast neoplasm
Gastric adenocarcinoma
Ovarian serous cystadenocarcinoma
Pancreatic adenocarcinoma
Small cell lung carcinoma
Lung adenocarcinoma
Acute myeloid leukemia
Li-Fraumeni syndrome
Hepatocellular carcinoma
Carcinoma of esophagus
Li-Fraumeni syndrome 1
Neoplasm of ovary
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA16603076

rs_1057520001

6 SubmittersRCV000422178 RCV000421044 RCV000425174 RCV000431745 RCV000432876 RCV000442691 RCV000442610 RCV000465501 RCV000437603 RCV000439391 RCV000662560 RCV000785463 RCV002289537

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.722C>A (p.Ser241Tyr)

SNV
Germline/somatic

Chr17:7674241

Pathogenic/Likely pathogenic

Carcinoma of esophagus
Glioblastoma
Uterine carcinosarcoma
Malignant neoplasm of body of uterus
Pancreatic adenocarcinoma
Squamous cell carcinoma of the skin
Neoplasm of brain
Squamous cell carcinoma of the head and neck
Malignant melanoma of skin
Lung adenocarcinoma
Ovarian serous cystadenocarcinoma
Breast neoplasm
Papillary renal cell carcinoma, sporadic
Non-Hodgkin lymphoma
Papillary renal cell carcinoma type 1
Neoplasm of the large intestine
Brainstem glioma
Gallbladder carcinoma
Transitional cell carcinoma of the bladder
Neoplasm of ovary
Li-Fraumeni syndrome
Condition: not provided
Li-Fraumeni syndrome 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA16603078

rs_28934573

6 SubmittersRCV000418625 RCV000419713 RCV000420813 RCV000421131 RCV000426095 RCV000424972 RCV000430014 RCV000423572 RCV000425344 RCV000430987 RCV000432092 RCV000436296 RCV000437363 RCV000431755 RCV000441902 RCV000438864 RCV000440216 RCV000441261 RCV000441922 RCV000785454 RCV001053974 RCV001576591 RCV002289538 RCV002289539

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

SNV
Germline/somatic

Chr17:7674242

Conflicting classifications of pathogenicity

Carcinoma of esophagus
Neoplasm of the large intestine
Neoplasm of brain
Uterine carcinosarcoma
Gallbladder carcinoma
Non-Hodgkin lymphoma
Malignant melanoma of skin
Brainstem glioma
Malignant neoplasm of body of uterus
Breast neoplasm
Glioblastoma
Papillary renal cell carcinoma type 1
Squamous cell carcinoma of the head and neck
Ovarian serous cystadenocarcinoma
Pancreatic adenocarcinoma
Papillary renal cell carcinoma, sporadic
Squamous cell carcinoma of the skin
Lung adenocarcinoma
Transitional cell carcinoma of the bladder
Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Conflicting Classifications

CA16603080

rs_1057520002

5 SubmittersRCV000418366 RCV000419457 RCV000422775 RCV000420564 RCV000423557 RCV000425684 RCV000424609 RCV000426866 RCV000429686 RCV000432077 RCV000434790 RCV000434877 RCV000437125 RCV000435947 RCV000440449 RCV000441961 RCV000441702 RCV000441931 RCV000443160 RCV001045859 RCV002374627 RCV004022242

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

SNV
Germline/somatic

Chr17:7675996

Conflicting classifications of pathogenicity

Squamous cell carcinoma of the head and neck
Neoplasm of the large intestine
Transitional cell carcinoma of the bladder
Malignant melanoma of skin
Breast neoplasm
Glioblastoma
Brainstem glioma
Gastric adenocarcinoma
Small cell lung carcinoma
Neoplasm of brain
Acute myeloid leukemia
Hepatocellular carcinoma
Squamous cell carcinoma of the skin
Ovarian serous cystadenocarcinoma
Papillary renal cell carcinoma type 1
Lung adenocarcinoma
Adrenal cortex carcinoma
Squamous cell lung carcinoma
Carcinoma of esophagus
Pancreatic adenocarcinoma
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA16603081

rs_1057520003

4 SubmittersRCV000418295 RCV000417666 RCV000422630 RCV000423200 RCV000425049 RCV000426486 RCV000428307 RCV000427158 RCV000429194 RCV000432449 RCV000433906 RCV000434887 RCV000436394 RCV000434566 RCV000439620 RCV000437835 RCV000439813 RCV000442101 RCV000442185 RCV000443332 RCV001041773 RCV004022243 RCV004022244

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

SNV
Germline/somatic

Chr17:7675995

Pathogenic/Likely pathogenic

Papillary renal cell carcinoma type 1
Squamous cell carcinoma of the skin
Acute myeloid leukemia
Carcinoma of esophagus
Squamous cell lung carcinoma
Neoplasm of the large intestine
Lung adenocarcinoma
Transitional cell carcinoma of the bladder
Gastric adenocarcinoma
Glioblastoma
Breast neoplasm
Pancreatic adenocarcinoma
Adrenal cortex carcinoma
Small cell lung carcinoma
Hepatocellular carcinoma
Neoplasm of brain
Li-Fraumeni syndrome
Brainstem glioma
Malignant melanoma of skin
Squamous cell carcinoma of the head and neck
Ovarian serous cystadenocarcinoma
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16044089

rs_786201057

6 SubmittersRCV000423812 RCV000424026 RCV000429727 RCV000432131 RCV000434737 RCV000423368 RCV000442028 RCV000440628 RCV000430321 RCV000419385 RCV000419630 RCV000436286 RCV000436638 RCV000424710 RCV000425385 RCV000428977 RCV000524926 RCV000442755 RCV000436088 RCV000440402 RCV000442833 RCV000492090 RCV002289540

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

SNV
Germline/somatic

Chr17:7675095

Pathogenic/Likely pathogenic

Breast neoplasm
Malignant melanoma of skin
Lung adenocarcinoma
Carcinoma of esophagus
Ovarian serous cystadenocarcinoma
Brainstem glioma
Malignant neoplasm of body of uterus
Pancreatic adenocarcinoma
Squamous cell carcinoma of the head and neck
Neoplasm of the large intestine
Hepatocellular carcinoma
Neoplasm of brain
Gastric adenocarcinoma
Adrenal cortex carcinoma
Small cell lung carcinoma
Li-Fraumeni syndrome
Neoplasm of ovary
Condition: not provided
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16603082

rs_876660754

7 SubmittersRCV000423312 RCV000421780 RCV000417683 RCV000427345 RCV000428483 RCV000427493 RCV000429213 RCV000432458 RCV000434691 RCV000438383 RCV000442009 RCV000433209 RCV000440549 RCV000443390 RCV000439916 RCV000694763 RCV000785539 RCV001821147 RCV002289542 RCV002289541

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

SNV
Germline/somatic

Chr17:7675094

Conflicting classifications of pathogenicity

Small cell lung carcinoma
Adrenal cortex carcinoma
Hepatocellular carcinoma
Breast neoplasm
Malignant neoplasm of body of uterus
Neoplasm of brain
Pancreatic adenocarcinoma
Malignant melanoma of skin
Ovarian serous cystadenocarcinoma
Gastric adenocarcinoma
Carcinoma of esophagus
Squamous cell carcinoma of the head and neck
Neoplasm of the large intestine
Lung adenocarcinoma
Brainstem glioma
Hereditary cancer-predisposing syndrome
not specified
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Conflicting Classifications

CA16603083

rs_1057519747

5 SubmittersRCV000421130 RCV000419351 RCV000420346 RCV000425882 RCV000425654 RCV000430605 RCV000430481 RCV000431387 RCV000437016 RCV000435883 RCV000437139 RCV000441782 RCV000442089 RCV000443047 RCV000443122 RCV000574130 RCV000582350 RCV002524700 RCV004022245

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

SNV
Germline/somatic

Chr17:7674885

Conflicting classifications of pathogenicity

Ovarian serous cystadenocarcinoma
Neoplasm of brain
Carcinoma of esophagus
Glioblastoma
Squamous cell carcinoma of the skin
Lung adenocarcinoma
Breast neoplasm
Squamous cell carcinoma of the head and neck
Uterine carcinosarcoma
Squamous cell lung carcinoma
Neoplasm of ovary
Pancreatic adenocarcinoma
Li-Fraumeni syndrome
Condition: not provided
Li-Fraumeni syndrome 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA16603084

rs_730882025

6 SubmittersRCV000417716 RCV000420083 RCV000422099 RCV000426649 RCV000428855 RCV000427972 RCV000431215 RCV000439081 RCV000437749 RCV000437980 RCV000785309 RCV000442710 RCV001042741 RCV003321589 RCV004022246 RCV002365461

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

SNV
Germline/somatic

Chr17:7673805

Conflicting classifications of pathogenicity

Squamous cell carcinoma of the head and neck
Lung adenocarcinoma
Neoplasm of the large intestine
Malignant neoplasm of body of uterus
Squamous cell carcinoma of the skin
Medulloblastoma
Gastric adenocarcinoma
Li-Fraumeni syndrome
Pancreatic adenocarcinoma
Li-Fraumeni syndrome 1
Ovarian serous cystadenocarcinoma
Transitional cell carcinoma of the bladder
Multiple myeloma
Papillary renal cell carcinoma type 1
Breast neoplasm

Criteria Provided
Conflicting Classifications

CA16603087

rs_876660333

3 SubmittersRCV000424786 RCV000429369 RCV000434183 RCV000438331 RCV000440060 RCV000442953 RCV000444340 RCV001228585 RCV000421804 RCV004022247 RCV000422825 RCV000423493 RCV000427639 RCV000433521 RCV000442761

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

SNV
Germline/somatic

Chr17:7673800

Conflicting classifications of pathogenicity

Neoplasm of the large intestine
Pancreatic adenocarcinoma
Gastric adenocarcinoma
Lung adenocarcinoma
Malignant melanoma of skin
Prostate adenocarcinoma
Small cell lung carcinoma
Lip and oral cavity carcinoma
Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Ovarian serous cystadenocarcinoma
Li-Fraumeni syndrome 1
Hepatocellular carcinoma
Neoplasm of brain
Breast neoplasm

Criteria Provided
Conflicting Classifications

CA16603088

rs_1057520005

5 SubmittersRCV000418736 RCV000419355 RCV000430114 RCV000428932 RCV000429450 RCV000435470 RCV000436116 RCV001255677 RCV001344689 RCV002429349 RCV000418237 RCV004022248 RCV000423526 RCV000440120 RCV000440773

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

SNV
Germline/somatic

Chr17:7673799

Conflicting classifications of pathogenicity

Malignant melanoma of skin
Neoplasm of brain
Small cell lung carcinoma
Gastric adenocarcinoma
Neoplasm of the large intestine
Hepatocellular carcinoma
Prostate adenocarcinoma
Ovarian serous cystadenocarcinoma
Pancreatic adenocarcinoma
Lung adenocarcinoma
Breast neoplasm
Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA16603089

rs_1057520006

3 SubmittersRCV000419239 RCV000424200 RCV000425563 RCV000424885 RCV000431443 RCV000432106 RCV000434236 RCV000436477 RCV000443884 RCV000441480 RCV000443016 RCV001229449 RCV003168618

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

SNV
Germline/somatic

Chr17:7673799

Conflicting classifications of pathogenicity

Hepatocellular carcinoma
Pancreatic adenocarcinoma
Lung adenocarcinoma
Prostate adenocarcinoma
Neoplasm of the large intestine
Ovarian serous cystadenocarcinoma
Malignant melanoma of skin
Neoplasm of brain
Gastric adenocarcinoma
Breast neoplasm
Hereditary cancer-predisposing syndrome
Lip and oral cavity carcinoma
Li-Fraumeni syndrome 1
Small cell lung carcinoma
Li-Fraumeni syndrome

Criteria Provided
Conflicting Classifications

CA16603090

rs_1057520006

5 SubmittersRCV000419865 RCV000421122 RCV000420544 RCV000426446 RCV000431168 RCV000431803 RCV000430539 RCV000437117 RCV000439046 RCV000441279 RCV000492506 RCV001255678 RCV004022249 RCV000438367 RCV000692432

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

SNV
Germline/somatic

Chr17:7673799

Conflicting classifications of pathogenicity

Malignant melanoma of skin
Ovarian serous cystadenocarcinoma
Hepatocellular carcinoma
Neoplasm of the large intestine
Prostate adenocarcinoma
Lung adenocarcinoma
Neoplasm of brain
Small cell lung carcinoma
Gastric adenocarcinoma
Pancreatic adenocarcinoma
Breast neoplasm
Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA16603091

rs_1057520006

3 SubmittersRCV000420150 RCV000421817 RCV000426067 RCV000427353 RCV000426772 RCV000432482 RCV000433292 RCV000437438 RCV000438006 RCV000443517 RCV000444136 RCV001056029 RCV002429350

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

SNV
Germline/somatic

Chr17:7675125

Conflicting classifications of pathogenicity

Hepatocellular carcinoma
Uterine carcinosarcoma
Neoplasm of the large intestine
Ovarian serous cystadenocarcinoma
Lung adenocarcinoma
Breast neoplasm
Squamous cell carcinoma of the head and neck
Carcinoma of esophagus
Squamous cell lung carcinoma
Brainstem glioma
Pancreatic adenocarcinoma
Neoplasm of brain
Malignant melanoma of skin
Li-Fraumeni syndrome
Small cell lung carcinoma
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Conflicting Classifications

CA16603093

rs_786203436

4 SubmittersRCV000421406 RCV000427021 RCV000424159 RCV000426404 RCV000437297 RCV000439053 RCV000443298 RCV000428833 RCV000439742 RCV000443877 RCV000422095 RCV000434430 RCV000431660 RCV000633347 RCV000444003 RCV002338982 RCV004022250

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.614A>G (p.Tyr205Cys)

SNV
Germline/somatic

Chr17:7674917

Pathogenic

Hepatocellular carcinoma
Papillary renal cell carcinoma type 1
Ovarian serous cystadenocarcinoma
Squamous cell carcinoma of the head and neck
Non-Hodgkin lymphoma
Uterine carcinosarcoma
Glioblastoma
Malignant neoplasm of body of uterus
Breast neoplasm
Squamous cell lung carcinoma
Pancreatic adenocarcinoma
Neoplasm of the large intestine
Multiple myeloma
Lung adenocarcinoma
Carcinoma of esophagus
Neoplasm of brain
Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16603095

rs_1057520007

4 SubmittersRCV000422077 RCV000422980 RCV000427034 RCV000424901 RCV000427749 RCV000430410 RCV000431652 RCV000433236 RCV000432320 RCV000437968 RCV000437254 RCV000439980 RCV000440667 RCV000442863 RCV000443687 RCV000443828 RCV000704312 RCV002356520 RCV004022251

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

SNV
Germline/somatic

Chr17:7674918

Conflicting classifications of pathogenicity

Carcinoma of esophagus
Papillary renal cell carcinoma type 1
Breast neoplasm
Squamous cell carcinoma of the head and neck
Hepatocellular carcinoma
Neoplasm of brain
Ovarian serous cystadenocarcinoma
Neoplasm of the large intestine
Multiple myeloma
Malignant neoplasm of body of uterus
Glioblastoma
Non-Hodgkin lymphoma
Pancreatic adenocarcinoma
Uterine carcinosarcoma
Lung adenocarcinoma
Squamous cell lung carcinoma
Li-Fraumeni syndrome 1
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome

Criteria Provided
Conflicting Classifications

CA16603098

rs_1057520008

6 SubmittersRCV000417461 RCV000419577 RCV000420753 RCV000422784 RCV000426051 RCV000424682 RCV000424892 RCV000430294 RCV000430575 RCV000432365 RCV000433474 RCV000435608 RCV000437987 RCV000441202 RCV000444368 RCV000444287 RCV000662621 RCV001024933 RCV001851022

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

SNV
Germline/somatic

Chr17:7674918

Pathogenic/Likely pathogenic

Pancreatic adenocarcinoma
Multiple myeloma
Neoplasm of brain
Carcinoma of esophagus
Glioblastoma
Non-Hodgkin lymphoma
Lung adenocarcinoma
Uterine carcinosarcoma
Hepatocellular carcinoma
Papillary renal cell carcinoma type 1
Malignant neoplasm of body of uterus
Ovarian serous cystadenocarcinoma
Squamous cell carcinoma of the head and neck
Neoplasm of the large intestine
Squamous cell lung carcinoma
Breast neoplasm
Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16603099

rs_1057520008

5 SubmittersRCV000419308 RCV000420368 RCV000421826 RCV000422887 RCV000424493 RCV000427755 RCV000426781 RCV000431739 RCV000431958 RCV000432726 RCV000437451 RCV000437587 RCV000439923 RCV000440094 RCV000443622 RCV000443753 RCV000819983 RCV000775886 RCV004022252

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

SNV
Germline/somatic

Chr17:7674918

Conflicting classifications of pathogenicity

Lung adenocarcinoma
Pancreatic adenocarcinoma
Non-Hodgkin lymphoma
Multiple myeloma
Papillary renal cell carcinoma type 1
Breast neoplasm
Squamous cell carcinoma of the head and neck
Ovarian serous cystadenocarcinoma
Uterine carcinosarcoma
Hepatocellular carcinoma
Malignant neoplasm of body of uterus
Neoplasm of brain
Squamous cell lung carcinoma
Neoplasm of the large intestine
Carcinoma of esophagus
Glioblastoma
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA16603100

rs_1057520008

5 SubmittersRCV000421137 RCV000419128 RCV000423676 RCV000421350 RCV000426948 RCV000428535 RCV000428939 RCV000430021 RCV000434351 RCV000434446 RCV000438356 RCV000436740 RCV000439865 RCV000439629 RCV000444122 RCV000444873 RCV000462351 RCV000663307 RCV003441853

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.658T>A (p.Tyr220Asn)

SNV
Germline/somatic

Chr17:7674873

Conflicting classifications of pathogenicity

Squamous cell carcinoma of the head and neck
Glioblastoma
Small cell lung carcinoma
Lung adenocarcinoma
Breast neoplasm
Neoplasm of brain
Neoplasm of the large intestine
Uterine carcinosarcoma
Malignant melanoma of skin
Ovarian serous cystadenocarcinoma
Pancreatic adenocarcinoma
Transitional cell carcinoma of the bladder
Papillary renal cell carcinoma, sporadic
Malignant neoplasm of body of uterus
Hepatocellular carcinoma
Li-Fraumeni syndrome
Condition: not provided
Prostate adenocarcinoma
Squamous cell lung carcinoma
Gastric adenocarcinoma
Li-Fraumeni syndrome 1
Papillary renal cell carcinoma type 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA16603101

rs_530941076

5 SubmittersRCV000419702 RCV000424584 RCV000423767 RCV000426310 RCV000429130 RCV000427847 RCV000429300 RCV000432093 RCV000434035 RCV000434427 RCV000437403 RCV000438679 RCV000438838 RCV000439357 RCV000443812 RCV001313857 RCV001575028 RCV000419021 RCV000419523 RCV000421037 RCV004022254 RCV000438068 RCV000570507

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

SNV
Germline/somatic

Chr17:7674873

Conflicting classifications of pathogenicity

Breast neoplasm
Neoplasm of the large intestine
Malignant melanoma of skin
Transitional cell carcinoma of the bladder
Ovarian serous cystadenocarcinoma
Small cell lung carcinoma
Hepatocellular carcinoma
Uterine carcinosarcoma
Gastric adenocarcinoma
Papillary renal cell carcinoma, sporadic
Papillary renal cell carcinoma type 1
Pancreatic adenocarcinoma
Neoplasm of brain
Squamous cell carcinoma of the head and neck
Malignant neoplasm of body of uterus
Prostate adenocarcinoma
Lung adenocarcinoma
Li-Fraumeni syndrome
Squamous cell lung carcinoma
Glioblastoma
Li-Fraumeni syndrome 1

Criteria Provided
Conflicting Classifications

CA16603102

rs_530941076

3 SubmittersRCV000417982 RCV000418575 RCV000418779 RCV000422783 RCV000427506 RCV000426793 RCV000428144 RCV000431034 RCV000430837 RCV000433449 RCV000434918 RCV000436457 RCV000437034 RCV000441127 RCV000440413 RCV000444915 RCV000444073 RCV001851023 RCV000424311 RCV000425315 RCV004022255

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

SNV
Germline/somatic

Chr17:7674262

Conflicting classifications of pathogenicity

Carcinoma of esophagus
Gastric adenocarcinoma
Ovarian serous cystadenocarcinoma
Squamous cell lung carcinoma
Pancreatic adenocarcinoma
Glioblastoma
Squamous cell carcinoma of the head and neck
Adrenal cortex carcinoma
Breast neoplasm
Transitional cell carcinoma of the bladder
Neoplasm of the large intestine
Prostate adenocarcinoma
Small cell lung carcinoma
Hepatocellular carcinoma
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome

Criteria Provided
Conflicting Classifications

CA16603103

rs_587780073

3 SubmittersRCV000421263 RCV000421924 RCV000423467 RCV000427293 RCV000430039 RCV000430207 RCV000431511 RCV000433051 RCV000437540 RCV000439556 RCV000440245 RCV000444569 RCV000443862 RCV000444596 RCV001025931 RCV001341542

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

SNV
Germline/somatic

Chr17:7674263

Pathogenic/Likely pathogenic

Gastric adenocarcinoma
Small cell lung carcinoma
Hepatocellular carcinoma
Ovarian serous cystadenocarcinoma
Glioblastoma
Adrenal cortex carcinoma
Transitional cell carcinoma of the bladder
Carcinoma of esophagus
Prostate adenocarcinoma
Pancreatic adenocarcinoma
Breast neoplasm
Neoplasm of the large intestine
Squamous cell lung carcinoma
Hereditary cancer-predisposing syndrome
Squamous cell carcinoma of the head and neck
Li-Fraumeni syndrome
Neoplasm of ovary
Li-Fraumeni syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16603104

rs_864622237

6 SubmittersRCV000418604 RCV000418790 RCV000419222 RCV000421640 RCV000427499 RCV000426894 RCV000428839 RCV000428164 RCV000431867 RCV000436907 RCV000438411 RCV000439967 RCV000441352 RCV000492782 RCV000437128 RCV000530551 RCV000785304 RCV002289544

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

SNV
Germline/somatic

Chr17:7674263

Pathogenic

Breast neoplasm
Adrenal cortex carcinoma
Transitional cell carcinoma of the bladder
Carcinoma of esophagus
Pancreatic adenocarcinoma
Prostate adenocarcinoma
Squamous cell lung carcinoma
Hepatocellular carcinoma
Glioblastoma
Squamous cell carcinoma of the head and neck
Ovarian serous cystadenocarcinoma
Gastric adenocarcinoma
Small cell lung carcinoma
Neoplasm of the large intestine
Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA16603105

rs_864622237

3 SubmittersRCV000417830 RCV000418444 RCV000423653 RCV000428072 RCV000426109 RCV000426512 RCV000426723 RCV000433276 RCV000434769 RCV000436114 RCV000436336 RCV000439167 RCV000444101 RCV000444893 RCV000809457 RCV001025925

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

SNV
Germline/somatic

Chr17:7674256

Conflicting classifications of pathogenicity

Prostate adenocarcinoma
Neoplasm of brain
Gastric adenocarcinoma
Ovarian serous cystadenocarcinoma
Squamous cell carcinoma of the head and neck
Squamous cell lung carcinoma
Lung adenocarcinoma
Squamous cell carcinoma of the skin
Pancreatic adenocarcinoma
Neoplasm of the large intestine
Breast neoplasm
Neoplasm of ovary
Condition: not provided
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Conflicting Classifications

CA16603106

rs_730882026

8 SubmittersRCV000419208 RCV000420300 RCV000423298 RCV000425130 RCV000428749 RCV000430980 RCV000429935 RCV000437595 RCV000438183 RCV000440629 RCV000444464 RCV000785279 RCV001559774 RCV002365462 RCV001201781 RCV004022256

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

SNV
Germline/somatic

Chr17:7674257

Conflicting classifications of pathogenicity

Squamous cell carcinoma of the head and neck
Neoplasm of the large intestine
Gastric adenocarcinoma
Squamous cell lung carcinoma
Lung adenocarcinoma
Prostate adenocarcinoma
Pancreatic adenocarcinoma
Squamous cell carcinoma of the skin
Neoplasm of brain
Ovarian serous cystadenocarcinoma
Breast neoplasm
Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Conflicting Classifications

CA16040589

rs_587782289

5 SubmittersRCV000421176 RCV000422301 RCV000426248 RCV000431852 RCV000432981 RCV000438025 RCV000444573 RCV000444665 RCV000443891 RCV000427088 RCV000439518 RCV000463978 RCV000566931 RCV002289545

NM_000546.6(TP53):c.*6T>A

SNV
Germline

Chr17:7669603

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA000667

rs_369567704

5 SubmittersRCV000586669 RCV001177928 RCV004000438

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

SNV
Germline/somatic

Chr17:7673534

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA16607519

rs_11575997

5 SubmittersRCV000429174 RCV002289557 RCV000799825 RCV002289556

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

SNV
Germline

Chr17:7676605

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA004011

rs_773666793

4 SubmittersRCV000433273 RCV001176466 RCV001198687 RCV004000417

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

SNV
Germline

Chr17:7674246

Conflicting classifications of pathogenicity

Condition: not provided
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.673-1G>A

SNV
Germline

Chr17:7674291

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA16607882

rs_878854073

6 SubmittersRCV000418491 RCV000708630 RCV001034938 RCV002289552

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

SNV
Germline

Chr17:7674850

Conflicting classifications of pathogenicity

not specified
Li-Fraumeni syndrome

Criteria Provided
Conflicting Classifications

CA16607883

rs_1057521030

4 SubmittersRCV000425870 RCV001424406

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

SNV
Germline

Chr17:7676606

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA004012

rs_375229869

5 SubmittersRCV000434247 RCV000583581 RCV002289573 RCV002488960

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

SNV
Germline

Chr17:7669693

Conflicting classifications of pathogenicity

not specified
Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA16608655

rs_1057521167

4 SubmittersRCV000418865 RCV001861512 RCV001805046

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

SNV
Germline

Chr17:7673694

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA001336

rs_199527475

7 SubmittersRCV000421770 RCV000459858 RCV000580655 RCV002289568 RCV003942414

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

SNV
Germline/somatic

Chr17:7673740

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA16608665

rs_1057520607

4 SubmittersRCV000433836 RCV001527467 RCV004022313 RCV002374641

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

SNV
Germline

Chr17:7676367

Conflicting classifications of pathogenicity

not specified
Li-Fraumeni syndrome 1
Li-Fraumeni syndrome

Criteria Provided
Conflicting Classifications

CA16608670

rs_200053580

3 SubmittersRCV000419666 RCV001124309 RCV002061601

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

SNV
Germline

Chr17:7673527

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Conflicting Classifications

CA16615685

rs_1060504163

2 SubmittersRCV000471374 RCV001127284

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

SNV
Germline

Chr17:7673609

Pathogenic

Li-Fraumeni syndrome
Condition: not provided

Criteria Provided
Single Submitter

CA16615686

rs_587781702

2 SubmittersRCV000458070 RCV003151060

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

SNV
Germline

Chr17:7673841

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA16615687

rs_1060504160

4 SubmittersRCV000468122 RCV001181991

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

SNV
Germline

Chr17:7673577

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA16615689

rs_1060501199

2 SubmittersRCV000477030 RCV002374764

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

SNV
Germline

Chr17:7673596

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA16615690

rs_56184981

4 SubmittersRCV000473016 RCV001805064 RCV002289599

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

SNV
Germline

Chr17:7674868

Conflicting classifications of pathogenicity

Condition: not provided
Li-Fraumeni syndrome

Criteria Provided
Conflicting Classifications

CA16615692

rs_1060504161

2 SubmittersRCV000483671 RCV001421969

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

SNV
Germline

Chr17:7673715

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA16615695

rs_1060501202

3 SubmittersRCV000468864 RCV001018766 RCV002289600

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

SNV
Germline/somatic

Chr17:7674957

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA16615700

rs_866380588

6 SubmittersRCV000472712 RCV001024481 RCV001358339 RCV002289596 RCV004000747

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

SNV
Germline

Chr17:7673839

Pathogenic

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA16615702

rs_1060501207

2 SubmittersRCV000464087 RCV002411441

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

SNV
Germline

Chr17:7674190

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Bone osteosarcoma
Li-Fraumeni syndrome 1

Criteria Provided
Conflicting Classifications

CA16615703

rs_1060501201

3 SubmittersRCV000459389 RCV002272239 RCV004022605

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

SNV
Germline/somatic

Chr17:7675075

Pathogenic

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Neoplasm of ovary
Acute myeloid leukemia

Reviewed By Expert Panel

CA16615708

rs_876660821

5 SubmittersRCV000464573 RCV000567952 RCV001527472 RCV003159559

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

SNV
Germline

Chr17:7675148

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA16615709

rs_786202752

6 SubmittersRCV000492645 RCV000506226 RCV000473602 RCV002269272 RCV004022603

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

SNV
Germline/somatic

Chr17:7676040

Pathogenic/Likely pathogenic

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Neoplasm of ovary
Li-Fraumeni syndrome 1
Adrenal cortex carcinoma

Criteria Provided
Multiple Submitters
No Conflicts

CA002845

rs_11540654

8 SubmittersRCV000473145 RCV000492590 RCV000785348 RCV002289602 RCV004000748

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

SNV
Germline

Chr17:7676237

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA16615713

rs_1060501190

3 SubmittersRCV000459820 RCV001011072 RCV002289589

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

SNV
Germline

Chr17:7676266

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA16615715

rs_1060501211

3 SubmittersRCV000470404 RCV000572574 RCV002289606

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

SNV
Germline

Chr17:7674867

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA16615720

rs_1060501203

4 SubmittersRCV000477098 RCV000564109 RCV003318578

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

SNV
Germline

Chr17:7675082

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA16615728

rs_751477326

4 SubmittersRCV000477631 RCV000759377 RCV002348300

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

SNV
Germline

Chr17:7676048

Pathogenic

Li-Fraumeni syndrome

Criteria Provided
Single Submitter

CA16615729

rs_770776262

1 SubmittersRCV000473161

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

SNV
Germline

Chr17:7676056

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA16615732

rs_1060501195

3 SubmittersRCV000475325 RCV000492606 RCV002289594

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

SNV
Germline

Chr17:7676399

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA16615735

rs_922736614

4 SubmittersRCV000468603 RCV000986054 RCV002289604 RCV002289603

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

SNV
Germline

Chr17:7673613

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA16615935

rs_34361146

2 SubmittersRCV000471798 RCV002374840

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

SNV
Germline/somatic

Chr17:7673777

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA16615937

rs_1057519984

5 SubmittersRCV000470818 RCV000499361 RCV000658764 RCV000785325 RCV002446795

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

SNV
Germline

Chr17:7673809

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA16615939

rs_1060501191

5 SubmittersRCV000457572 RCV000775714 RCV001815331 RCV003315242

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

SNV
Germline

Chr17:7674216

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Conflicting Classifications

CA16615944

rs_28934571

2 SubmittersRCV000465003 RCV004022606

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

SNV
Germline/somatic

Chr17:7674885

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA16615950

rs_730882025

2 SubmittersRCV000466409 RCV001270272

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

SNV
Germline

Chr17:7676230

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA16615959

rs_1800371

4 SubmittersRCV000463583 RCV000774798 RCV002289605

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

SNV
Germline

Chr17:7676584

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA16615964

rs_878854064

3 SubmittersRCV000475451 RCV001010274 RCV002289597

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

SNV
Germline

Chr17:7673587

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA001234

rs_751440465

4 SubmittersRCV000456310 RCV000570325 RCV002289598 RCV004567972

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

SNV
Germline

Chr17:7673604

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
not specified
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA16615992

rs_786202546

5 SubmittersRCV000462950 RCV000506600 RCV000575062

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

SNV
Germline

Chr17:7674223

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA16615997

rs_786201762

2 SubmittersRCV000457243 RCV002379430

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

SNV
Germline

Chr22:28694027

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA16616302

rs_769841229

7 SubmittersRCV000468962 RCV000561946 RCV003444238

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

SNV
Germline

Chr17:7673536

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA16620611

rs_1064795056

4 SubmittersRCV000479182 RCV001037256 RCV002289637 RCV002289636

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

SNV
Germline

Chr17:7673558

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA16620612

rs_1064794810

6 SubmittersRCV000478385 RCV000555965 RCV000573045 RCV002289633

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

SNV
Germline

Chr17:7673736

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA001416

rs_751713111

5 SubmittersRCV000486525 RCV000633374 RCV000774786

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

SNV
Germline

Chr17:7673759

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA001463

rs_748891343

6 SubmittersRCV000481706 RCV000568299 RCV001214612 RCV002289642

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

SNV
Germline/somatic

Chr17:7673767

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA16620615

rs_112431538

6 SubmittersRCV000479542 RCV000492206 RCV000633365 RCV000626449 RCV002289628

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

SNV
Germline/somatic

Chr17:7673784

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA16620616

rs_1064793881

9 SubmittersRCV000484876 RCV000492354 RCV000785274 RCV000584418 RCV000989709 RCV002289625 RCV002526543

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

SNV
Germline

Chr17:7673791

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA16620617

rs_1064795369

4 SubmittersRCV000480494 RCV000819627 RCV002248705 RCV002431408

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

SNV
Germline

Chr17:7674214

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA16620620

rs_1064794311

4 SubmittersRCV000479937 RCV000547538 RCV001026502

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

SNV
Germline

Chr17:7674278

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA16620623

rs_1064794312

4 SubmittersRCV000482930 RCV000492777 RCV000633388

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

SNV
Germline

Chr17:7674962

Likely pathogenic

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

Reviewed By Expert Panel

CA16620625

rs_876660825

5 SubmittersRCV000484792 RCV000551566 RCV001527084 RCV002350050

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

SNV
Germline

Chr17:7675130

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA16620630

rs_1064795691

3 SubmittersRCV000481512 RCV000552464 RCV004023170

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.31G>A (p.Glu11Lys)

SNV
Germline

Chr17:7676564

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA003910

rs_201382018

7 SubmittersRCV000563270 RCV000548671 RCV000663228 RCV001704594

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

SNV
Germline

Chr22:28689195

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA16621043

rs_767043399

7 SubmittersRCV000485124 RCV000562793 RCV000556152 RCV001174504

NM_007194.4(CHEK2):c.444+2T>C

SNV
Germline

Chr22:28725241

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA16621080

rs_560596101

9 SubmittersRCV000483398 RCV000562639 RCV000543761 RCV000763474

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

SNV
Germline

Chr17:7670709

Likely pathogenic

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA397832878

rs_730882028

3 SubmittersRCV000492343 RCV002289665

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

SNV
Germline/somatic

Chr17:7673535

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA10590137

rs_11575996

6 SubmittersRCV000492456 RCV000521745 RCV000685844 RCV002289663

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

SNV
Germline/somatic

Chr17:7673699

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA397836235

rs_1131691016

5 SubmittersRCV000492618 RCV000808655 RCV001542803 RCV002289666

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

SNV
Germline/somatic

Chr17:7673700

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA397836244

rs_1131691039

4 SubmittersRCV000492089 RCV000786818 RCV000785296 RCV004023283

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

SNV
Germline/somatic

Chr17:7673794

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA397836931

rs_1131691029

4 SubmittersRCV000492584 RCV000705570 RCV000785453 RCV004568619

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

SNV
Germline/somatic

Chr17:7673820

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA397837115

rs_587780075

3 SubmittersRCV000492273 RCV000691629 RCV003326137

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

SNV
Germline/somatic

Chr17:7674226

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA397838998

rs_587780074

4 SubmittersRCV000492075 RCV000704600 RCV000785245 RCV002289671

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

SNV
Germline

Chr17:7674888

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA397840019

rs_886039484

3 SubmittersRCV000492567 RCV004023282 RCV002523445

NM_000546.6(TP53):c.559+1G>A

SNV
Germline

Chr17:7675052

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA397841068

rs_1131691042

9 SubmittersRCV000492159 RCV000763418 RCV000786834 RCV001210960 RCV002289678 RCV003476180

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

SNV
Germline

Chr17:7675098

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA397841576

rs_1131691043

3 SubmittersRCV000492688 RCV002527066 RCV004023284

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

SNV
Germline

Chr17:7675109

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA287488569

rs_867114783

3 SubmittersRCV000492442 RCV000702915 RCV004023278

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

SNV
Germline

Chr17:7675142

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA397842041

rs_1131691023

5 SubmittersRCV000492393 RCV000505579 RCV002274041 RCV002289672 RCV003509552

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

SNV
Germline/somatic

Chr17:7675174

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA397842363

rs_1131691026

5 SubmittersRCV000492181 RCV000633358 RCV002289674 RCV001527473

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

SNV
Germline

Chr17:7675220

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA397842926

rs_1131691037

4 SubmittersRCV000492742 RCV000821569 RCV002289677

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

SNV
Germline/somatic

Chr17:7676056

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA397844735

rs_1060501195

4 SubmittersRCV000492331 RCV001379190 RCV002289669 RCV004003474

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

SNV
Germline

Chr17:7676381

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA397848258

rs_1131691003

4 SubmittersRCV000492543 RCV002523444 RCV003485592

NM_000546.6(TP53):c.75-2A>G

SNV
Germline/somatic

Chr17:7676405

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA397848502

rs_1131691020

4 SubmittersRCV000492315 RCV001543700 RCV001851347 RCV002289668

NM_000546.6(TP53):c.1015G>T (p.Glu339Ter)

SNV
Germline

Chr17:7670694

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA397832685

rs_17882252

4 SubmittersRCV000505616 RCV000689964 RCV002341191 RCV003409717

NM_000546.6(TP53):c.752T>C (p.Ile251Thr)

SNV
Germline

Chr17:7674211

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA397838899

rs_730882027

4 SubmittersRCV000506798 RCV001379962 RCV001755753 RCV002395222

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

SNV
Germline

Chr17:7674914

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome

Criteria Provided
Conflicting Classifications

CA397840264

rs_1555525804

3 SubmittersRCV000507226 RCV000566251 RCV001049540

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

SNV
Germline

Chr17:7675992

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA397844132

rs_1555526469

5 SubmittersRCV000505908 RCV000586625 RCV000692558 RCV002289693 RCV002289694

NM_007194.4(CHEK2):c.417C>A (p.Tyr139Ter)

SNV
Germline

Chr22:28725270

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA411107953

rs_200917541

9 SubmittersRCV000507030 RCV000541871 RCV000763476 RCV001375597 RCV000572280 RCV003150248

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.949C>T (p.Gln317Ter)

SNV
Germline

Chr17:7673579

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA397835973

rs_764735889

6 SubmittersRCV000520579 RCV000615397 RCV000583201 RCV002289710

NM_000546.6(TP53):c.724T>C (p.Cys242Arg)

SNV
Germline

Chr17:7674239

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA397839073

rs_1057519982

5 SubmittersRCV000523905 RCV001857954 RCV002376961 RCV004023543

NM_007194.4(CHEK2):c.232C>T (p.Gln78Ter)

SNV
Germline

Chr22:28734490

Pathogenic/Likely pathogenic

Condition: not provided
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 2

Criteria Provided
Multiple Submitters
No Conflicts

CA411090665

rs_1555932341

6 SubmittersRCV000522849 RCV000576726 RCV001015209 RCV004577527

NM_000546.6(TP53):c.1165G>A (p.Gly389Arg)

SNV
Germline

Chr17:7669626

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA397830162

rs_587783064

2 SubmittersRCV000558251 RCV002330841

NM_000546.6(TP53):c.925C>T (p.Pro309Ser)

SNV
Germline

Chr17:7673603

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA397836140

rs_1555525012

5 SubmittersRCV000537437 RCV000574214 RCV002289745

NM_000546.6(TP53):c.850A>T (p.Thr284Ser)

SNV
Germline

Chr17:7673770

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA397836761

rs_1204379654

5 SubmittersRCV000546011 RCV000563243 RCV001544620

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

SNV
Germline/somatic

Chr17:7673838

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA397837303

rs_1555525367

5 SubmittersRCV000539601 RCV000565712 RCV002289743 RCV001533211

NM_000546.6(TP53):c.770T>C (p.Leu257Pro)

SNV
Germline

Chr17:7674193

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA397837703

rs_28934577

3 SubmittersRCV000540536 RCV004023790 RCV003159760

NM_000546.6(TP53):c.731G>C (p.Gly244Ala)

SNV
Germline/somatic

Chr17:7674232

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA287488006

rs_985033810

4 SubmittersRCV000548437 RCV001255675 RCV004023789 RCV002384069

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.377A>G (p.Tyr126Cys)

SNV
Germline/somatic

Chr17:7675235

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA397843956

rs_1555526335

6 SubmittersRCV000547041 RCV000785493 RCV001021115 RCV002289730

NM_000546.6(TP53):c.341T>C (p.Leu114Ser)

SNV
Germline

Chr17:7676028

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA002835

rs_781724995

5 SubmittersRCV000537102 RCV001177908 RCV001821513 RCV002289729

NM_000546.6(TP53):c.229C>A (p.Pro77Thr)

SNV
Germline

Chr17:7676140

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA003025

rs_753085009

3 SubmittersRCV000546598 RCV000563835 RCV002289723

NM_000546.6(TP53):c.677G>T (p.Gly226Val)

SNV
Germline

Chr17:7674286

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA287488077

rs_970212462

5 SubmittersRCV000542075 RCV000572327 RCV002289739 RCV001591203

NM_000546.6(TP53):c.673-2A>G

SNV
Germline/somatic

Chr17:7674292

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA397839547

rs_1555525585

7 SubmittersRCV000553068 RCV000786824 RCV000785307 RCV002289737 RCV002289738

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

SNV
Germline

Chr17:7675082

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA002428

rs_751477326

6 SubmittersRCV000540639 RCV000565979 RCV000582953 RCV002289734

NM_000546.6(TP53):c.463A>G (p.Thr155Ala)

SNV
Germline

Chr17:7675149

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA002539

rs_772683278

4 SubmittersRCV000534841 RCV002289733 RCV002289732 RCV001563388

NM_000546.6(TP53):c.372C>A (p.Cys124Ter)

SNV
Germline

Chr17:7675997

Pathogenic

Li-Fraumeni syndrome
Li-Fraumeni syndrome 1

Reviewed By Expert Panel

CA397844214

rs_1555526478

3 SubmittersRCV000541004 RCV004023787

NM_000546.6(TP53):c.1060C>T (p.Gln354Ter)

SNV
Germline

Chr17:7670649

Likely pathogenic

Li-Fraumeni syndrome

Criteria Provided
Single Submitter

CA397832178

rs_755394212

1 SubmittersRCV000531178

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

SNV
Germline

Chr17:7673785

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA397836877

rs_1555525248

4 SubmittersRCV000547189 RCV000566142 RCV002267618 RCV003459203

NM_000546.6(TP53):c.516T>G (p.Val172=)

SNV
Germline

Chr17:7675096

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA002450

rs_749309577

4 SubmittersRCV000556128 RCV000578979 RCV001023655

NM_000546.6(TP53):c.289G>T (p.Val97Phe)

SNV
Germline

Chr17:7676080

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA397844977

rs_730882023

4 SubmittersRCV000545045 RCV001526005 RCV002289725

NM_000546.6(TP53):c.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.830G>T (p.Cys277Phe)

SNV
Germline

Chr17:7673790

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA001518

rs_763098116

5 SubmittersRCV000532028 RCV002431551 RCV003409773 RCV004023791

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.376-2A>T

SNV
Germline/somatic

Chr17:7675238

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA397843977

rs_786202799

4 SubmittersRCV000532456 RCV000785465 RCV000786837 RCV002350198

NM_000546.6(TP53):c.1054G>T (p.Asp352Tyr)

SNV
Germline

Chr17:7670655

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA397832246

rs_1555524394

3 SubmittersRCV000574074 RCV001043167 RCV002289807

NM_000546.6(TP53):c.1160C>G (p.Thr387Arg)

SNV
Germline

Chr17:7669631

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome

Criteria Provided
Conflicting Classifications

CA287485465

rs_927888647

3 SubmittersRCV000569933 RCV001035792

NM_000546.6(TP53):c.848G>C (p.Arg283Pro)

SNV
Germline

Chr17:7673772

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA397836790

rs_371409680

5 SubmittersRCV000565161 RCV001731795 RCV002289837 RCV003767232

NM_000546.6(TP53):c.737T>A (p.Met246Lys)

SNV
Germline

Chr17:7674226

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA397839001

rs_587780074

3 SubmittersRCV000574219 RCV002289798 RCV000797952

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.1014C>G (p.Phe338Leu)

SNV
Germline

Chr17:7670695

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA000848

rs_150293825

5 SubmittersRCV000576115 RCV001322989 RCV002289821

NM_000546.6(TP53):c.974G>A (p.Gly325Glu)

SNV
Germline

Chr17:7673554

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA397835817

rs_121912659

5 SubmittersRCV000566077 RCV001217424 RCV003476325

NM_000546.6(TP53):c.434T>A (p.Leu145Gln)

SNV
Germline/somatic

Chr17:7675178

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA397842430

rs_587782197

7 SubmittersRCV000565971 RCV000785310 RCV001537369 RCV003621548 RCV004024460

NM_000546.6(TP53):c.406C>G (p.Gln136Glu)

SNV
Germline

Chr17:7675206

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA397842769

rs_1555526268

3 SubmittersRCV000572692 RCV001352113 RCV002289793

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

SNV
Germline

Chr17:7675240

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome

Criteria Provided
Conflicting Classifications

CA397843997

rs_1221388024

4 SubmittersRCV000564076 RCV001451701

NM_000546.6(TP53):c.160T>C (p.Phe54Leu)

SNV
Germline

Chr17:7676209

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome

Criteria Provided
Conflicting Classifications

CA397846436

rs_1555526742

2 SubmittersRCV000571144 RCV003621549

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

SNV
Germline/somatic

Chr17:7676381

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA397848251

rs_1131691003

6 SubmittersRCV000566426 RCV000763420 RCV001203248 RCV002289813 RCV003320444

NM_000546.6(TP53):c.673G>A (p.Val225Ile)

SNV
Germline

Chr17:7674290

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA397839539

rs_746504075

3 SubmittersRCV000571914 RCV002289785 RCV001216966

NM_000546.6(TP53):c.776A>T (p.Asp259Val)

SNV
Germline

Chr17:7674187

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA397837621

rs_745425759

5 SubmittersRCV000563029 RCV000663222 RCV002526892

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

SNV
Germline

Chr17:7674225

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA287487993

rs_1019340046

3 SubmittersRCV000561491 RCV000633390 RCV003483672

NM_000546.6(TP53):c.712T>A (p.Cys238Ser)

SNV
Germline

Chr17:7674251

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome

Criteria Provided
Conflicting Classifications

CA397839198

rs_1057519981

2 SubmittersRCV000565464 RCV003509567

NM_000546.6(TP53):c.400T>A (p.Phe134Ile)

SNV
Germline

Chr17:7675212

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA397842840

rs_267605077

2 SubmittersRCV000565274 RCV004024466

NM_000546.6(TP53):c.382C>A (p.Pro128Thr)

SNV
Germline

Chr17:7675230

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA397843906

rs_1555526327

6 SubmittersRCV000569462 RCV000633349 RCV002289789 RCV003492102

NM_000546.6(TP53):c.275C>T (p.Pro92Leu)

SNV
Germline

Chr17:7676094

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA397845138

rs_1210700121

5 SubmittersRCV000566433 RCV000811514 RCV002289782

NM_000546.6(TP53):c.263C>T (p.Ala88Val)

SNV
Germline

Chr17:7676106

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA397845305

rs_1555526631

3 SubmittersRCV000565147 RCV001322778 RCV002289783

NM_000546.6(TP53):c.454C>T (p.Pro152Ser)

SNV
Germline

Chr17:7675158

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA002580

rs_767328513

3 SubmittersRCV000570923 RCV001367015 RCV002272288

NM_000546.6(TP53):c.214C>T (p.Pro72Ser)

SNV
Germline

Chr17:7676155

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome

Criteria Provided
Conflicting Classifications

CA003069

rs_587782769

2 SubmittersRCV000573116 RCV002304214

NM_000546.6(TP53):c.376-1G>A

SNV
Germline/somatic

Chr17:7675237

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Neoplasm of ovary
Li-Fraumeni syndrome
Condition: not provided
Lip and oral cavity carcinoma
Li-Fraumeni syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA287488727

rs_868137297

9 SubmittersRCV000570638 RCV000785531 RCV000800144 RCV000786836 RCV001255670 RCV002289803

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

SNV
Germline

Chr17:7675992

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA397844129

rs_1555526469

3 SubmittersRCV003767131 RCV000571256 RCV000786838

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.98C>A (p.Ser33Tyr)

SNV
Germline

Chr17:7676271

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA397848079

rs_1555526832

3 SubmittersRCV000561224 RCV000819381 RCV002289812

NM_000546.6(TP53):c.121G>A (p.Asp41Asn)

SNV
Germline

Chr17:7676248

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA397847025

rs_1555526789

3 SubmittersRCV000562780 RCV000822098 RCV002289833

NM_000546.6(TP53):c.1038G>C (p.Glu346Asp)

SNV
Germline

Chr17:7670671

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome

Criteria Provided
Conflicting Classifications

CA397832451

rs_1555524406

2 SubmittersRCV000562934 RCV001865731

NM_000546.6(TP53):c.994-2A>G

SNV
Germline

Chr17:7670717

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA287485766

rs_867389695

5 SubmittersRCV000572283 RCV000786813 RCV003338668 RCV003117344

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

SNV
Germline/somatic

Chr17:7673609

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA397836174

rs_587781702

5 SubmittersRCV000563356 RCV000785455 RCV001672879 RCV001553698 RCV002289799

NM_000546.6(TP53):c.772G>T (p.Glu258Ter)

SNV
Germline/somatic

Chr17:7674191

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA397837685

rs_121912652

5 SubmittersRCV000565601 RCV000785351 RCV002289838 RCV003767233

NM_000546.6(TP53):c.673-4C>G

SNV
Germline

Chr17:7674294

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA658656528

rs_1555525586

4 SubmittersRCV000563494 RCV000695775 RCV002289823

NM_000546.6(TP53):c.548C>T (p.Ser183Leu)

SNV
Germline

Chr17:7675064

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA397841206

rs_1555525970

3 SubmittersRCV000565655 RCV002289784 RCV001363399

NM_000546.6(TP53):c.532C>G (p.His178Asp)

SNV
Germline

Chr17:7675080

Likely pathogenic

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

Reviewed By Expert Panel

CA397841387

rs_1064795203

5 SubmittersRCV000575494 RCV000633339 RCV002254704

NM_000546.6(TP53):c.493C>A (p.Gln165Lys)

SNV
Germline

Chr17:7675119

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome

Criteria Provided
Conflicting Classifications

CA397841869

rs_730882001

2 SubmittersRCV000573450 RCV002530257

NM_000546.6(TP53):c.470T>A (p.Val157Asp)

SNV
Germline

Chr17:7675142

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA397842047

rs_1131691023

3 SubmittersRCV000561132 RCV000807881 RCV004024481

NM_000546.6(TP53):c.385G>A (p.Ala129Thr)

SNV
Germline

Chr17:7675227

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome

Criteria Provided
Conflicting Classifications

CA397842995

rs_1438095083

3 SubmittersRCV000567140 RCV002526838

NM_000546.6(TP53):c.343C>A (p.His115Asn)

SNV
Germline

Chr17:7676026

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA397844462

rs_1555526532

3 SubmittersRCV000576064 RCV000821053 RCV002289788

NM_000546.6(TP53):c.244C>G (p.Pro82Ala)

SNV
Germline

Chr17:7676125

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome

Criteria Provided
Conflicting Classifications

CA397845525

rs_1555526664

4 SubmittersRCV000573848 RCV002528018

NM_000546.6(TP53):c.198G>A (p.Met66Ile)

SNV
Germline

Chr17:7676171

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA397846006

rs_1555526711

4 SubmittersRCV000565744 RCV003621547 RCV002289791

NM_000546.6(TP53):c.4G>A (p.Glu2Lys)

SNV
Germline

Chr17:7676591

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA004009

rs_769884991

5 SubmittersRCV000579480 RCV000695387 RCV001755968 RCV002289853

NM_000546.6(TP53):c.920-17C>A

SNV
Germline

Chr17:7673625

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA287486535

rs_911934766

6 SubmittersRCV000584286 RCV001683597 RCV002061962 RCV002289877 RCV003492112

NM_000546.6(TP53):c.96+12G>C

SNV
Germline

Chr17:7676370

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome

Criteria Provided
Conflicting Classifications

CA003522

rs_779577884

3 SubmittersRCV000582066 RCV002530809

NM_000546.6(TP53):c.73C>T (p.Leu25=)

SNV
Germline

Chr17:7676522

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome

Criteria Provided
Conflicting Classifications

CA497719631

rs_1555526988

2 SubmittersRCV000583961 RCV001853946

NM_000546.6(TP53):c.993+284C>T

SNV
Germline

Chr17:7673251

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Conflicting Classifications

CA001038

rs_554738122

2 SubmittersRCV000583565 RCV000662812

NM_000546.6(TP53):c.953C>T (p.Pro318Leu)

SNV
Germline

Chr17:7673575

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA397835952

rs_1555524975

5 SubmittersRCV000584424 RCV002289878 RCV003767316

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

SNV
Germline

Chr17:7674293

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Li-Fraumeni syndrome

Criteria Provided
Conflicting Classifications

CA624726688

rs_1214646363

4 SubmittersRCV000581448 RCV000605146 RCV001860105

NM_000546.6(TP53):c.1177G>A (p.Asp393Asn)

SNV
Germline

Chr17:7669614

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA397829958

rs_1192921623

4 SubmittersRCV000584379 RCV001853944 RCV002289863

NM_007194.4(CHEK2):c.757A>T (p.Lys253Ter)

SNV
Germline

Chr22:28711944

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA411103191

rs_786201896

4 SubmittersRCV000584130 RCV001386328 RCV001788295

NM_000546.6(TP53):c.831T>A (p.Cys277Ter)

SNV
Germline

Chr17:7673789

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA397836898

rs_1057523347

4 SubmittersRCV000582104 RCV000793572 RCV004024646 RCV002431737

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

SNV
Germline/somatic

Chr17:7674972

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA397840948

rs_1202793339

6 SubmittersRCV000584518 RCV001257521 RCV000785458 RCV001867897 RCV002350408

NM_000546.6(TP53):c.318C>G (p.Ser106Arg)

SNV
Germline

Chr17:7676051

Likely pathogenic

not specified
Li-Fraumeni syndrome

Criteria Provided
Single Submitter

CA397844688

rs_1555526581

2 SubmittersRCV000582529 RCV001055662

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

SNV
Germline/somatic

Chr17:7673700

Likely pathogenic

Condition: not provided
Colorectal cancer
Li-Fraumeni syndrome 1

Criteria Provided
Single Submitter

CA397836242

rs_1131691039

3 SubmittersRCV000786817 RCV001789778 RCV004024666

NM_000546.6(TP53):c.27C>G (p.Ser9Arg)

SNV
Germline

Chr17:7676568

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA003949

rs_757282628

3 SubmittersRCV000587100 RCV001016639 RCV002289886

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

SNV
Germline/somatic

Chr17:7674180

Likely pathogenic

Li-Fraumeni syndrome
Neoplasm of ovary
Condition: not provided
Li-Fraumeni syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA397837531

rs_1555525429

4 SubmittersRCV000587342 RCV000785462 RCV000786822 RCV004024677

NM_007194.4(CHEK2):c.1259+1G>A

SNV
Germline

Chr22:28695709

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA411096478

rs_121908707

4 SubmittersRCV000587596 RCV001860142 RCV002431744

NM_000546.6(TP53):c.672+2T>A

SNV
Germline/somatic

Chr17:7674857

Likely pathogenic

Li-Fraumeni syndrome
Condition: not provided

Criteria Provided
Single Submitter

CA397839761

rs_1555525703

2 SubmittersRCV000609770 RCV001613395

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

SNV
Germline

Chr17:7674175

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA287486810

rs_1008479744

4 SubmittersRCV000633399 RCV001176035 RCV001707837

NM_000546.6(TP53):c.1064C>T (p.Ala355Val)

SNV
Germline

Chr17:7670645

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA397832139

rs_1555524382

5 SubmittersRCV000633335 RCV001009801 RCV002289921 RCV004568384

NM_000546.6(TP53):c.947C>T (p.Pro316Leu)

SNV
Germline

Chr17:7673581

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA397835981

rs_1555524979

3 SubmittersRCV000633395 RCV001019395 RCV002289935

NM_000546.6(TP53):c.631A>C (p.Thr211Pro)

SNV
Germline

Chr17:7674900

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA397840134

rs_1060501198

2 SubmittersRCV000633327 RCV002360526

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

SNV
Germline

Chr17:7675113

Pathogenic/Likely pathogenic

Li-Fraumeni syndrome
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.473G>T (p.Arg158Leu)

SNV
Germline

Chr17:7675139

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA397842028

rs_587782144

6 SubmittersRCV000633348 RCV001091169 RCV002289922 RCV002289923

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

SNV
Germline

Chr17:7675992

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA397844133

rs_1555526469

3 SubmittersRCV000633362 RCV001021046 RCV002289925

NM_000546.6(TP53):c.229C>T (p.Pro77Ser)

SNV
Germline

Chr17:7676140

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA397845619

rs_753085009

3 SubmittersRCV002289932 RCV000633383 RCV001015102

NM_000546.6(TP53):c.919+8A>C

SNV
Germline

Chr17:7673693

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
not specified

Criteria Provided
Conflicting Classifications

CA658798700

rs_1555525043

2 SubmittersRCV000633415 RCV003994053

NM_000546.6(TP53):c.75-8T>C

SNV
Germline

Chr17:7676411

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA658798709

rs_1555526938

2 SubmittersRCV000633410 RCV001766347

NM_000546.6(TP53):c.931A>C (p.Asn311His)

SNV
Germline

Chr17:7673597

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA397836105

rs_1555525007

3 SubmittersRCV000633334 RCV000774977

NM_000546.6(TP53):c.920-4C>G

SNV
Germline

Chr17:7673612

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome

Criteria Provided
Conflicting Classifications

CA658798696

rs_1555525022

3 SubmittersRCV001019000 RCV000633413

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

SNV
Germline/somatic

Chr17:7673534

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA397835645

rs_11575997

6 SubmittersRCV000633368 RCV000785467 RCV000786816 RCV002289929 RCV002289928

NM_000546.6(TP53):c.766A>C (p.Thr256Pro)

SNV
Germline

Chr17:7674197

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA397837741

rs_587781433

4 SubmittersRCV000633389 RCV001026685 RCV002289933

NM_000546.6(TP53):c.752T>A (p.Ile251Asn)

SNV
Germline/somatic

Chr17:7674211

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA397838901

rs_730882027

4 SubmittersRCV000633360 RCV003228966 RCV004025427

NM_000546.6(TP53):c.653T>G (p.Val218Gly)

SNV
Germline

Chr17:7674878

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA397839930

rs_1555525743

4 SubmittersRCV000633350 RCV001175697 RCV002289924

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

SNV
Germline

Chr17:7676560

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA397849144

rs_1482497533

5 SubmittersRCV000772527 RCV000633363 RCV002289926

NM_007194.4(CHEK2):c.339C>G (p.Tyr113Ter)

SNV
Germline

Chr22:28725348

Pathogenic

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 2
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA323033395

rs_905674348

7 SubmittersRCV000635735 RCV000771629 RCV001814204 RCV003483696

NM_000546.6(TP53):c.1146A>G (p.Lys382=)

SNV
Germline

Chr17:7669645

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_1567540280

3 SubmittersRCV000690251 RCV002458224

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

SNV
Germline

Chr17:7674178

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_1555525425

5 SubmittersRCV000685199 RCV000840660 RCV002289959 RCV002289958

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

SNV
Germline

Chr17:7675078

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_1555526001

3 SubmittersRCV000698003 RCV001023959 RCV002307599

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

SNV
Germline

Chr17:7676259

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_1567557177

2 SubmittersRCV000688189 RCV004026290

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

SNV
Germline

Chr17:7676127

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_1567556386

2 SubmittersRCV000707346 RCV002458325

NM_000546.6(TP53):c.205G>A (p.Ala69Thr)

SNV
Germline

Chr17:7676164

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_1567556618

4 SubmittersRCV000698086 RCV001183319 RCV002289975

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

SNV
Germline

Chr17:7676218

Pathogenic

Li-Fraumeni syndrome

Criteria Provided
Single Submitter

rs_1567556930

1 SubmittersRCV000689241

NM_000546.6(TP53):c.116C>T (p.Ala39Val)

SNV
Germline

Chr17:7676253

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_1353016807

4 SubmittersRCV000690309 RCV002225719 RCV002289967 RCV002289968

NM_000546.6(TP53):c.950A>G (p.Gln317Arg)

SNV
Germline

Chr17:7673578

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_1159579789

3 SubmittersRCV000704730 RCV002369956 RCV003424300

NM_000546.6(TP53):c.310C>T (p.Gln104Ter)

SNV
Germline/somatic

Chr17:7676059

Pathogenic

Li-Fraumeni syndrome
Neoplasm of ovary
Li-Fraumeni syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_1567555934

3 SubmittersRCV000686865 RCV000785541 RCV004026248

NM_000546.6(TP53):c.304A>T (p.Thr102Ser)

SNV
Germline

Chr17:7676065

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_1567555968

4 SubmittersRCV000706015 RCV000771730 RCV002289983

NM_000546.6(TP53):c.219G>A (p.Val73=)

SNV
Germline

Chr17:7676150

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_1567556473

2 SubmittersRCV000705498 RCV004026692

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

SNV
Germline

Chr17:7676158

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_1567556576

5 SubmittersRCV000700185 RCV001805814 RCV002289977

NM_000546.6(TP53):c.1118A>G (p.Lys373Arg)

SNV
Germline

Chr17:7669673

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_1567540504

5 SubmittersRCV000700219 RCV000771476 RCV002289978

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

SNV
Germline

Chr17:7673806

Pathogenic/Likely pathogenic

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_121912657

2 SubmittersRCV000696673 RCV002422533

NM_000546.6(TP53):c.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.718A>G (p.Ser240Gly)

SNV
Germline

Chr17:7674245

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_1567549584

4 SubmittersRCV000709404 RCV000989712 RCV002289986 RCV002289987

NM_000546.6(TP53):c.819T>C (p.Arg273=)

SNV
Germline

Chr17:7673801

Conflicting classifications of pathogenicity

Condition: not provided
Li-Fraumeni syndrome

Criteria Provided
Conflicting Classifications

rs_1567547965

2 SubmittersRCV000760101 RCV003621570

NM_000546.6(TP53):c.489C>G (p.Tyr163Ter)

SNV
Germline

Chr17:7675123

Pathogenic

Condition: not provided
Li-Fraumeni syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1567553246

2 SubmittersRCV000759375 RCV003509597

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

SNV
Germline

Chr17:7673747

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_372613518

4 SubmittersRCV000820689 RCV000774787 RCV002290023

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

SNV
Germline

Chr17:7673752

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome

Criteria Provided
Conflicting Classifications

rs_770374782

3 SubmittersRCV000773647 RCV002534085

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

SNV
Germline

Chr17:7674906

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_1429743956

4 SubmittersRCV000771676 RCV002290014 RCV001237388

NM_000546.6(TP53):c.101C>G (p.Pro34Arg)

SNV
Germline

Chr17:7676268

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_1322947350

4 SubmittersRCV000772948 RCV002290017 RCV002536641

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

SNV
Germline/somatic

Chr17:7674858

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Neoplasm of ovary
Condition: not provided
Li-Fraumeni syndrome
Breast carcinoma
Li-Fraumeni syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_863224499

7 SubmittersRCV000776760 RCV000785529 RCV000786829 RCV001269151 RCV001644809 RCV002290025

NM_000546.6(TP53):c.869G>T (p.Arg290Leu)

SNV
Germline

Chr17:7673751

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Bone marrow failure syndrome 5
Li-Fraumeni syndrome

Criteria Provided
Conflicting Classifications

rs_55819519

4 SubmittersRCV000781912 RCV001018200 RCV001294068 RCV001210557

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.1045G>T (p.Glu349Ter)

SNV
Germline/somatic

Chr17:7670664

Pathogenic

Neoplasm of ovary
Condition: not provided
Li-Fraumeni syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1567541975

3 SubmittersRCV000785303 RCV001269697 RCV003117574

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

SNV
Germline/somatic

Chr17:7670673

Pathogenic

Neoplasm of ovary
Li-Fraumeni syndrome

Criteria Provided
Single Submitter

rs_1567542019

2 SubmittersRCV000785313 RCV001235302

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

SNV
Germline/somatic

Chr17:7673764

Pathogenic

Neoplasm of ovary
Li-Fraumeni syndrome

Criteria Provided
Single Submitter

rs_786201059

2 SubmittersRCV000785476 RCV001380072

NM_000546.6(TP53):c.840A>C (p.Arg280Ser)

SNV
Germline/somatic

Chr17:7673780

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_1567547687

3 SubmittersRCV000785449 RCV002442608 RCV004027346

NM_000546.6(TP53):c.817C>G (p.Arg273Gly)

SNV
Germline/somatic

Chr17:7673803

Pathogenic/Likely pathogenic

Neoplasm of ovary
Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1
12 conditions

Criteria Provided
Multiple Submitters
No Conflicts

rs_121913343

6 SubmittersRCV000785275 RCV000814073 RCV001027249 RCV002290030 RCV002487616

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.661G>T (p.Glu221Ter)

SNV
Germline/somatic

Chr17:7674870

Pathogenic

Neoplasm of ovary
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1
Adrenal cortex carcinoma

Criteria Provided
Multiple Submitters
No Conflicts

rs_786201592

4 SubmittersRCV000785468 RCV000794857 RCV004027347 RCV004001540

NM_000546.6(TP53):c.660T>A (p.Tyr220Ter)

SNV
Somatic

Chr17:7674871

Pathogenic

Neoplasm of ovary
Li-Fraumeni syndrome 1

Criteria Provided
Single Submitter

rs_1567551150

2 SubmittersRCV000785516 RCV004027351

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

SNV
Germline/somatic

Chr17:7674939

Pathogenic

Neoplasm of ovary
Li-Fraumeni syndrome

Criteria Provided
Single Submitter

rs_1567551854

2 SubmittersRCV000785326 RCV002535726

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

SNV
Germline/somatic

Chr17:7675064

Pathogenic

Neoplasm of ovary
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_1555525970

3 SubmittersRCV000785319 RCV001382449 RCV004027340

NM_000546.6(TP53):c.538G>T (p.Glu180Ter)

SNV
Somatic

Chr17:7675074

Pathogenic

Neoplasm of ovary
Adrenal cortex carcinoma
Li-Fraumeni syndrome 1

Criteria Provided
Single Submitter

rs_879253911

3 SubmittersRCV000785283 RCV004001539 RCV004027338

NM_000546.6(TP53):c.511G>T (p.Glu171Ter)

SNV
Germline/somatic

Chr17:7675101

Pathogenic

Neoplasm of ovary
Li-Fraumeni syndrome

Criteria Provided
Single Submitter

rs_587781845

2 SubmittersRCV000785509 RCV000792928

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

SNV
Germline/somatic

Chr17:7675145

Conflicting classifications of pathogenicity

Neoplasm of ovary
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome

Criteria Provided
Conflicting Classifications

rs_371524413

3 SubmittersRCV000785506 RCV001022886 RCV002536879

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

SNV
Germline/somatic

Chr17:7675175

Pathogenic

Neoplasm of ovary
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1
Adrenal cortex carcinoma

Criteria Provided
Multiple Submitters
No Conflicts

rs_1206165503

7 SubmittersRCV000785547 RCV001022390 RCV001055632 RCV002290032 RCV004001542

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

SNV
Germline/somatic

Chr17:7675182

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_757274881

4 SubmittersRCV000785285 RCV001388107 RCV002332573 RCV003485642

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

SNV
Germline/somatic

Chr17:7675216

Pathogenic/Likely pathogenic

Neoplasm of ovary
Li-Fraumeni syndrome
Condition: not provided
Li-Fraumeni syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_866775781

4 SubmittersRCV000785513 RCV000795096 RCV003238212 RCV004027350

NM_000546.6(TP53):c.326T>G (p.Phe109Cys)

SNV
Somatic

Chr17:7676043

Likely pathogenic

Neoplasm of ovary
Li-Fraumeni syndrome 1

Criteria Provided
Single Submitter

rs_1064796722

2 SubmittersRCV000785545 RCV004027354

NM_000546.6(TP53):c.298C>T (p.Gln100Ter)

SNV
Germline/somatic

Chr17:7676071

Pathogenic/Likely pathogenic

Neoplasm of ovary
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Malignant tumor of urinary bladder
Li-Fraumeni syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_1567555994

6 SubmittersRCV000785339 RCV002256497 RCV002535727 RCV003332248 RCV004027342

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

SNV
Germline/somatic

Chr17:7673534

Pathogenic

Neoplasm of ovary
Condition: not provided
Li-Fraumeni syndrome
Adrenal cortex carcinoma

Criteria Provided
Single Submitter

rs_11575997

4 SubmittersRCV000785504 RCV000786815 RCV001062298 RCV004001541

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

SNV
Germline/somatic

Chr17:7673838

Pathogenic

Neoplasm of ovary
Condition: not provided
Li-Fraumeni syndrome

Criteria Provided
Single Submitter

rs_1555525367

3 SubmittersRCV000785242 RCV000786819 RCV001377112

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

SNV
Germline/somatic

Chr17:7674180

Pathogenic

Neoplasm of ovary
Li-Fraumeni syndrome
Condition: not provided

Criteria Provided
Single Submitter

rs_1555525429

3 SubmittersRCV000785278 RCV001063778 RCV001528108

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

SNV
Germline/somatic

Chr17:7674972

Pathogenic

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.375+1G>A

SNV
Germline/somatic

Chr17:7675993

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_1567555445

7 SubmittersRCV000785320 RCV000786839 RCV001021044 RCV001385498 RCV002290031

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

SNV
Germline

Chr17:7673839

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_1060501207

3 SubmittersRCV000786821 RCV001203239 RCV002406716

NM_000546.6(TP53):c.673-2A>T

SNV
Germline

Chr17:7674292

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_1555525585

3 SubmittersRCV000786826 RCV002370059 RCV002535740

NM_000546.6(TP53):c.672+2T>G

SNV
Germline

Chr17:7674857

Pathogenic

Condition: not provided
Li-Fraumeni syndrome

Criteria Provided
Single Submitter

rs_1555525703

2 SubmittersRCV000786827 RCV003509611

NM_000546.6(TP53):c.559+2T>A

SNV
Germline

Chr17:7675051

Pathogenic

Condition: not provided
Li-Fraumeni syndrome

Criteria Provided
Single Submitter

rs_1597369404

2 SubmittersRCV000786833 RCV002536885

NM_000546.6(TP53):c.559G>C (p.Gly187Arg)

SNV
Germline

Chr17:7675053

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_776167460

4 SubmittersRCV000786835 RCV001302589 RCV002292581 RCV002343642

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

SNV
Germline

Chr17:7675993

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_1567555445

6 SubmittersRCV000786840 RCV000804919 RCV001021045 RCV002290035

NM_000546.6(TP53):c.1152G>A (p.Met384Ile)

SNV
Germline

Chr17:7669639

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_1597345344

3 SubmittersRCV000792615 RCV002343647

NM_000546.6(TP53):c.1120G>T (p.Gly374Cys)

SNV
Germline

Chr17:7669671

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_587781858

3 SubmittersRCV000824393 RCV002434031

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

SNV
Germline

Chr17:7669687

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_1289241865

3 SubmittersRCV000813556 RCV001009899 RCV002290459

NM_000546.6(TP53):c.1045G>C (p.Glu349Gln)

SNV
Germline

Chr17:7670664

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_1567541975

2 SubmittersRCV000814404 RCV004028816

NM_000546.6(TP53):c.1039G>A (p.Ala347Thr)

SNV
Germline/somatic

Chr17:7670670

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_1597349147

5 SubmittersRCV000820398 RCV001017117 RCV003332266 RCV003141850 RCV003389250

NM_000546.6(TP53):c.1036G>A (p.Glu346Lys)

SNV
Germline

Chr17:7670673

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_1567542019

2 SubmittersRCV000801312 RCV003338808

NM_000546.6(TP53):c.986C>T (p.Thr329Ile)

SNV
Germline

Chr17:7673542

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_969930693

7 SubmittersRCV000808332 RCV001183900 RCV001824889 RCV002290454

NM_000546.6(TP53):c.928A>G (p.Asn310Asp)

SNV
Germline

Chr17:7673600

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_1597359691

2 SubmittersRCV000806895 RCV001019109

NM_000546.6(TP53):c.920C>T (p.Ala307Val)

SNV
Germline

Chr17:7673608

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_1457582183

3 SubmittersRCV000824567 RCV002372364

NM_000546.6(TP53):c.725G>C (p.Cys242Ser)

SNV
Germline

Chr17:7674238

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Conflicting Classifications

rs_121912655

2 SubmittersRCV000801823 RCV004028076

NM_000546.6(TP53):c.461G>T (p.Gly154Val)

SNV
Germline

Chr17:7675151

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_762846821

2 SubmittersRCV000807194 RCV003338813

NM_000546.6(TP53):c.380C>A (p.Ser127Tyr)

SNV
Germline

Chr17:7675232

Pathogenic

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

Reviewed By Expert Panel

rs_730881999

4 SubmittersRCV000813247 RCV001527086 RCV002352420

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

SNV
Germline

Chr17:7676023

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_989692988

5 SubmittersRCV000804275 RCV001020381 RCV002290445 RCV003478506 RCV004569609

NM_000546.6(TP53):c.319T>G (p.Tyr107Asp)

SNV
Germline

Chr17:7676050

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Conflicting Classifications

rs_368771578

2 SubmittersRCV000794731 RCV004027500

NM_000546.6(TP53):c.257C>T (p.Ala86Val)

SNV
Germline

Chr17:7676112

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_1597374264

4 SubmittersRCV000810093 RCV001525077 RCV002290457

NM_000546.6(TP53):c.133C>G (p.Leu45Val)

SNV
Germline

Chr17:7676236

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_1597375092

2 SubmittersRCV000816907 RCV002381838

NM_000546.6(TP53):c.118A>G (p.Met40Val)

SNV
Germline

Chr17:7676251

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_1597375159

4 SubmittersRCV000797308 RCV002265887 RCV002290438 RCV002290437

NM_000546.6(TP53):c.98C>T (p.Ser33Phe)

SNV
Germline

Chr17:7676271

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_1555526832

2 SubmittersRCV000804893 RCV004028198

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

SNV
Germline

Chr17:7676573

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_1597376589

4 SubmittersRCV000822860 RCV001015108 RCV001257498

NM_000546.6(TP53):c.97-1G>A

SNV
Germline/somatic

Chr17:7676273

Likely pathogenic

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

Reviewed By Expert Panel

rs_1597375294

4 SubmittersRCV000791520 RCV001019679 RCV001725199

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

SNV
Germline

Chr17:7675993

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_1567555445

3 SubmittersRCV000822481 RCV002256548 RCV002290471

NM_000546.6(TP53):c.97-1G>T

SNV
Germline

Chr17:7676273

Pathogenic/Likely pathogenic

Li-Fraumeni syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_1597375294

3 SubmittersRCV000812930 RCV003141828

NM_000546.6(TP53):c.559+1G>T

SNV
Germline/somatic

Chr17:7675052

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_1131691042

5 SubmittersRCV000804747 RCV001183083 RCV001580378 RCV002290446

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

SNV
Germline

Chr17:7676283

Pathogenic

Li-Fraumeni syndrome
Adrenocortical carcinoma, hereditary

Criteria Provided
Multiple Submitters
No Conflicts

rs_769697802

2 SubmittersRCV000791519 RCV003472330

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

SNV
Germline

Chr17:7673847

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_377590379

4 SubmittersRCV000923204 RCV001188668

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

SNV
Germline

Chr17:7675184

Likely pathogenic

Li-Fraumeni syndrome
Li-Fraumeni syndrome 1

Reviewed By Expert Panel

rs_1555526241

3 SubmittersRCV000991143 RCV004030120

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

SNV
Germline

Chr17:7669614

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_1192921623

3 SubmittersRCV001010148 RCV001862761 RCV002290527

NM_000546.6(TP53):c.1157A>G (p.Lys386Arg)

SNV
Germline

Chr17:7669634

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome

Criteria Provided
Conflicting Classifications

rs_1597345314

2 SubmittersRCV001010036 RCV003621583

NM_000546.6(TP53):c.1130C>T (p.Thr377Ile)

SNV
Germline

Chr17:7669661

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_1597345549

3 SubmittersRCV001017399 RCV001860863 RCV002290535

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

SNV
Germline

Chr17:7673582

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_772773208

4 SubmittersRCV001019376 RCV001041188 RCV002290539

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

SNV
Germline

Chr17:7673707

Pathogenic

Hereditary cancer-predisposing syndrome
Gastric cancer
Li-Fraumeni syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1597360340

3 SubmittersRCV001018912 RCV003160179 RCV003509646

NM_000546.6(TP53):c.865C>T (p.Leu289Phe)

SNV
Germline

Chr17:7673755

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome

Criteria Provided
Conflicting Classifications

rs_1555525154

2 SubmittersRCV001018140 RCV001297549

NM_000546.6(TP53):c.757A>G (p.Thr253Ala)

SNV
Germline

Chr17:7674206

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1597364185

2 SubmittersRCV001026581 RCV002551972

NM_000546.6(TP53):c.542G>C (p.Arg181Pro)

SNV
Germline

Chr17:7675070

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_397514495

4 SubmittersRCV001024094 RCV001206963 RCV002290550

NM_000546.6(TP53):c.455C>G (p.Pro152Arg)

SNV
Germline

Chr17:7675157

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_587782705

3 SubmittersRCV001022693 RCV002290546 RCV001383776

NM_000546.6(TP53):c.385G>T (p.Ala129Ser)

SNV
Germline

Chr17:7675227

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome

Criteria Provided
Conflicting Classifications

rs_1438095083

2 SubmittersRCV001021309 RCV001861015

NM_000546.6(TP53):c.379T>A (p.Ser127Thr)

SNV
Germline

Chr17:7675233

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_1597371694

4 SubmittersRCV001021179 RCV001038263 RCV002290541

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

SNV
Germline

Chr17:7676060

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_1597373901

4 SubmittersRCV001018609 RCV001044605 RCV002290537

NM_000546.6(TP53):c.303A>G (p.Lys101=)

SNV
Germline

Chr17:7676066

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_878854069

3 SubmittersRCV001018247 RCV001860899 RCV003478631

NM_000546.6(TP53):c.193A>G (p.Arg65Gly)

SNV
Germline

Chr17:7676176

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome

Criteria Provided
Conflicting Classifications

rs_1555526721

2 SubmittersRCV001013757 RCV001873250

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

SNV
Germline

Chr17:7676186

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_1597374797

4 SubmittersRCV001013317 RCV001202193 RCV002290529 RCV004569919

NM_000546.6(TP53):c.179C>T (p.Pro60Leu)

SNV
Germline

Chr17:7676190

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_1597374820

3 SubmittersRCV001013219 RCV001057841 RCV001776080

NM_000546.6(TP53):c.140C>G (p.Pro47Arg)

SNV
Germline

Chr17:7676229

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome

Criteria Provided
Conflicting Classifications

rs_1597375038

3 SubmittersRCV001011436 RCV001242916

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

SNV
Germline

Chr17:7673567

Pathogenic

Li-Fraumeni syndrome

Criteria Provided
Single Submitter

rs_2073154382

1 SubmittersRCV001044813

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

SNV
Germline

Chr17:7674202

Pathogenic/Likely pathogenic

Li-Fraumeni syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_1330865474

2 SubmittersRCV001061736 RCV004030433

NM_000546.6(TP53):c.758C>T (p.Thr253Ile)

SNV
Germline

Chr17:7674205

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_1555525465

3 SubmittersRCV001039079 RCV003307815 RCV004031088

NM_000546.6(TP53):c.695T>A (p.Ile232Asn)

SNV
Germline

Chr17:7674268

Pathogenic/Likely pathogenic

Li-Fraumeni syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_587781589

2 SubmittersRCV001054089

NM_000546.6(TP53):c.674T>A (p.Val225Asp)

SNV
Germline

Chr17:7674289

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_2073269361

2 SubmittersRCV001055197 RCV002374925

NM_000546.6(TP53):c.615T>G (p.Tyr205Ter)

SNV
Germline

Chr17:7674916

Pathogenic

Li-Fraumeni syndrome

Criteria Provided
Single Submitter

rs_786202222

1 SubmittersRCV001040734

NM_000546.6(TP53):c.515T>A (p.Val172Asp)

SNV
Germline

Chr17:7675097

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_1131691021

4 SubmittersRCV001037957 RCV002337102 RCV003396634 RCV004031050

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

SNV
Germline

Chr17:7675140

Pathogenic

Li-Fraumeni syndrome

Criteria Provided
Single Submitter

rs_587780068

1 SubmittersRCV001061572

NM_000546.6(TP53):c.184G>A (p.Glu62Lys)

SNV
Germline

Chr17:7676185

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome

Criteria Provided
Conflicting Classifications

rs_1567556752

2 SubmittersRCV002411588 RCV001065401

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

SNV
Germline

Chr17:7676588

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_2073524362

4 SubmittersRCV001064070 RCV001525558 RCV002290580

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

SNV
Germline/somatic

Chr17:7676381

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_1131691003

3 SubmittersRCV001067173 RCV001673009 RCV004030642

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

SNV
Germline

Chr17:7675210

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_1555526278

4 SubmittersRCV001091170 RCV002375011 RCV001862690 RCV004031969

NM_000546.6(TP53):c.*1132C>T

SNV
Germline

Chr17:7668477

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome 1
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1044102603

2 SubmittersRCV001123114 RCV002511047

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

SNV
Germline

Chr17:7675142

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_1131691023

3 SubmittersRCV001170827 RCV004032925 RCV004032926

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

SNV
Germline/somatic

Chr17:7673537

Pathogenic

Hereditary cancer-predisposing syndrome
Malignant tumor of urinary bladder
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_1597359130

5 SubmittersRCV001183200 RCV003332297 RCV003509657 RCV004033087

NM_000546.6(TP53):c.703A>G (p.Asn235Asp)

SNV
Germline

Chr17:7674260

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_786204145

4 SubmittersRCV001177820 RCV001875860 RCV004033013

NM_000546.6(TP53):c.684C>G (p.Asp228Glu)

SNV
Germline

Chr17:7674279

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_2073267220

4 SubmittersRCV001189231 RCV001862990 RCV002290625

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

SNV
Germline

Chr17:7675078

Pathogenic/Likely pathogenic

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1555526001

2 SubmittersRCV001218247 RCV002348728

NM_000546.6(TP53):c.356C>G (p.Ala119Gly)

SNV
Germline

Chr17:7676013

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_2073451331

2 SubmittersRCV001220864 RCV004032401

NM_000546.6(TP53):c.311A>T (p.Gln104Leu)

SNV
Germline

Chr17:7676058

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_2073460244

2 SubmittersRCV001216528 RCV002322052

NM_000546.6(TP53):c.985A>G (p.Thr329Ala)

SNV
Germline

Chr17:7673543

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_2073149675

2 SubmittersRCV001208476 RCV002379789

NM_000546.6(TP53):c.490A>T (p.Lys164Ter)

SNV
Germline

Chr17:7675122

Pathogenic

Li-Fraumeni syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_879254249

2 SubmittersRCV001204080 RCV004033601

NM_000546.6(TP53):c.379T>C (p.Ser127Pro)

SNV
Germline

Chr17:7675233

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_1597371694

3 SubmittersRCV001202791 RCV002365911 RCV004033549

NM_000546.6(TP53):c.100C>T (p.Pro34Ser)

SNV
Germline

Chr17:7676269

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_786201968

2 SubmittersRCV001204709 RCV002436787

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

SNV
Germline

Chr17:7676380

Likely pathogenic

Li-Fraumeni syndrome

Criteria Provided
Single Submitter

rs_2073505429

1 SubmittersRCV001219251

NM_000546.6(TP53):c.1016A>T (p.Glu339Val)

SNV
Germline

Chr17:7670693

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_1237829645

2 SubmittersRCV001233000 RCV003166427

NM_000546.6(TP53):c.796G>T (p.Gly266Ter)

SNV
Germline/somatic

Chr17:7673824

Pathogenic

Li-Fraumeni syndrome
Lung adenocarcinoma

Criteria Provided
Multiple Submitters
No Conflicts

rs_1057519990

2 SubmittersRCV001227077 RCV003129744

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

SNV
Germline

Chr17:7673826

Pathogenic/Likely pathogenic

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_879253942

3 SubmittersRCV001225765 RCV002418782

NM_000546.6(TP53):c.721T>A (p.Ser241Thr)

SNV
Germline

Chr17:7674242

Pathogenic/Likely pathogenic

Li-Fraumeni syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_1057520002

2 SubmittersRCV001232537 RCV004033172

NM_000546.6(TP53):c.626G>A (p.Arg209Lys)

SNV
Germline/somatic

Chr17:7674905

Conflicting classifications of pathogenicity

Familial cancer of breast
Li-Fraumeni syndrome

Criteria Provided
Conflicting Classifications

rs_2073332791

2 SubmittersRCV001270279 RCV001236518

NM_000546.6(TP53):c.850A>G (p.Thr284Ala)

SNV
Germline

Chr17:7673770

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_1204379654

3 SubmittersRCV001239284 RCV004034606

NM_000546.6(TP53):c.28G>T (p.Val10Phe)

SNV
Germline

Chr17:7676567

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_535274413

3 SubmittersRCV001243833 RCV003294139

NM_000546.6(TP53):c.610G>T (p.Glu204Ter)

SNV
Germline/somatic

Chr17:7674921

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_2073336758

3 SubmittersRCV001255667 RCV003166582 RCV004035354

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

SNV
Germline

Chr17:7676097

Pathogenic/Likely pathogenic

Li-Fraumeni syndrome
Adrenocortical carcinoma, hereditary

Criteria Provided
Multiple Submitters
No Conflicts

rs_2073465664

3 SubmittersRCV001258110 RCV003473842

NM_000546.6(TP53):c.840A>T (p.Arg280Ser)

SNV
Germline/somatic

Chr17:7673780

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Conflicting Classifications

rs_1567547687

4 SubmittersRCV001270277 RCV002447244 RCV003509664 RCV004035437

NM_000546.6(TP53):c.400T>G (p.Phe134Val)

SNV
Germline/somatic

Chr17:7675212

Conflicting classifications of pathogenicity

Familial cancer of breast
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Conflicting Classifications

rs_267605077

3 SubmittersRCV001270266 RCV001324043 RCV004035436

NM_000546.6(TP53):c.464C>T (p.Thr155Ile)

SNV
Germline

Chr17:7675148

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_786202752

2 SubmittersRCV001302824 RCV004036257

NM_000546.6(TP53):c.825T>A (p.Cys275Ter)

SNV
Germline

Chr17:7673795

Pathogenic

Li-Fraumeni syndrome 1

Criteria Provided
Single Submitter

rs_1555525279

1 SubmittersRCV001310213

NM_000546.6(TP53):c.1179C>G (p.Asp393Glu)

SNV
Germline

Chr17:7669612

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_2072829931

2 SubmittersRCV001326918 RCV002341680

NM_000546.6(TP53):c.1027G>C (p.Glu343Gln)

SNV
Germline

Chr17:7670682

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_375573770

2 SubmittersRCV001314316 RCV002384393

NM_000546.6(TP53):c.476C>A (p.Ala159Asp)

SNV
Germline

Chr17:7675136

Pathogenic/Likely pathogenic

Li-Fraumeni syndrome
Prostate cancer, hereditary, 1
Li-Fraumeni syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_1555526131

3 SubmittersRCV001326770 RCV003483816 RCV004035219

NM_000546.6(TP53):c.1064C>G (p.Ala355Gly)

SNV
Germline

Chr17:7670645

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_1555524382

2 SubmittersRCV001351201 RCV003169742

NM_000546.6(TP53):c.904G>A (p.Gly302Arg)

SNV
Germline

Chr17:7673716

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_863224686

2 SubmittersRCV001352238 RCV002377500

NM_000546.6(TP53):c.623A>T (p.Asp208Val)

SNV
Germline

Chr17:7674908

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_1464727668

2 SubmittersRCV001338967 RCV002368117

NM_000546.6(TP53):c.74+3G>A

SNV
Germline

Chr17:7676518

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_1229638201

2 SubmittersRCV001337851 RCV002384451

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

SNV
Germline

Chr17:7675140

Pathogenic

Li-Fraumeni syndrome

Criteria Provided
Single Submitter

rs_587780068

1 SubmittersRCV001379294

NM_000546.6(TP53):c.75-1G>A

SNV
Germline

Chr17:7676404

Likely pathogenic

Li-Fraumeni syndrome

Criteria Provided
Single Submitter

rs_2151045740

1 SubmittersRCV001379766

NM_007194.4(CHEK2):c.684-2A>G

SNV
Germline

Chr22:28712019

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_2053419665

7 SubmittersRCV001377776 RCV002368214 RCV002499777

NM_000546.6(TP53):c.958A>T (p.Lys320Ter)

SNV
Germline

Chr17:7673570

Pathogenic

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_2151011624

2 SubmittersRCV001389384 RCV002384552

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

SNV
Germline

Chr17:7674261

Pathogenic

Li-Fraumeni syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_2151021924

2 SubmittersRCV001381122 RCV004037649

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

SNV
Germline

Chr17:7676048

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_770776262

3 SubmittersRCV001386369 RCV003321833 RCV004037681

NM_000546.6(TP53):c.376-9T>A

SNV
Germline

Chr17:7675245

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
not specified
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_2151034304

4 SubmittersRCV001400454 RCV003321837 RCV003584921

NM_000546.6(TP53):c.920-9C>T

SNV
Germline

Chr17:7673617

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_1265260122

2 SubmittersRCV001496536 RCV002258291

NM_000546.6(TP53):c.672+8T>G

SNV
Germline

Chr17:7674851

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Breast and/or ovarian cancer

Criteria Provided
Conflicting Classifications

rs_763373602

2 SubmittersRCV001494475 RCV001799092

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

SNV
Germline/somatic

Chr17:7674973

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_1427441061

4 SubmittersRCV001550216 RCV002032580 RCV002290721 RCV002290720

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

SNV
Germline/somatic

Chr17:7673533

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_1597359053

3 SubmittersRCV001553782 RCV003621596 RCV004571059

NM_000546.6(TP53):c.672+2T>C

SNV
Germline/somatic

Chr17:7674857

Pathogenic

Condition: not provided
Li-Fraumeni syndrome

Criteria Provided
Single Submitter

rs_1555525703

2 SubmittersRCV001578274 RCV002570814

NM_000546.6(TP53):c.376-1G>T

SNV
Germline/somatic

Chr17:7675237

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_868137297

3 SubmittersRCV001580379 RCV001882697 RCV003375345

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

SNV
Germline/somatic

Chr17:7674291

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_878854073

5 SubmittersRCV001614459 RCV001873819 RCV003298947 RCV004039541

NM_000546.6(TP53):c.771G>A (p.Leu257=)

SNV
Germline

Chr17:7674192

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_2151020056

3 SubmittersRCV001768395 RCV002405312 RCV003621607

NM_000546.6(TP53):c.489C>A (p.Tyr163Ter)

SNV
Germline

Chr17:7675123

Pathogenic

Li-Fraumeni syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_1567553246

2 SubmittersRCV001923859 RCV004044131

NM_000546.6(TP53):c.751A>T (p.Ile251Phe)

SNV
Germline

Chr17:7674212

Likely pathogenic

Li-Fraumeni syndrome

Criteria Provided
Single Submitter

rs_730882007

1 SubmittersRCV002043568

NM_000546.6(TP53):c.823T>G (p.Cys275Gly)

SNV
Germline

Chr17:7673797

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_1057519983

3 SubmittersRCV001945198 RCV003289221 RCV004043418

NM_000546.6(TP53):c.1100+2T>A

SNV
Germline

Chr17:7670607

Likely pathogenic

Li-Fraumeni syndrome

Criteria Provided
Single Submitter

rs_2150993637

1 SubmittersRCV002032317

NM_000546.6(TP53):c.649G>T (p.Val217Leu)

SNV
Germline

Chr17:7674882

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_35163653

2 SubmittersRCV001881329 RCV002361164

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

SNV
Germline

Chr17:7687376

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_2151082372

2 SubmittersRCV002031560 RCV002441237

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

SNV
Germline

Chr17:7673547

Pathogenic

Li-Fraumeni syndrome

Criteria Provided
Single Submitter

rs_879254077

1 SubmittersRCV001874295

NM_000546.6(TP53):c.124G>A (p.Asp42Asn)

SNV
Germline

Chr17:7676245

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_756847009

2 SubmittersRCV001975531 RCV004042155

NM_000546.6(TP53):c.632C>T (p.Thr211Ile)

SNV
Germline

Chr17:7674899

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_2073331490

3 SubmittersRCV002022697 RCV003481246 RCV004046067

NM_000546.6(TP53):c.810T>A (p.Phe270Leu)

SNV
Germline

Chr17:7673810

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_1057519987

2 SubmittersRCV001940898 RCV004042022

NM_007194.4(CHEK2):c.342G>A (p.Trp114Ter)

SNV
Germline

Chr22:28725345

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_756949505

5 SubmittersRCV001994743 RCV002267643 RCV002458883 RCV003136370

NM_000546.6(TP53):c.1112C>A (p.Ser371Tyr)

SNV
Germline

Chr17:7669679

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_2150988837

2 SubmittersRCV001995780 RCV003339869

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

SNV
Germline

Chr17:7675234

Pathogenic

Li-Fraumeni syndrome
Prostate cancer, hereditary, 1

Criteria Provided
Single Submitter

rs_1567554500

2 SubmittersRCV001994856 RCV003483865

NM_000546.6(TP53):c.233C>T (p.Ala78Val)

SNV
Germline

Chr17:7676136

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_876658527

2 SubmittersRCV001912917 RCV002449555

NM_000546.6(TP53):c.154C>T (p.Gln52Ter)

SNV
Germline

Chr17:7676215

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_2151042795

3 SubmittersRCV001958596 RCV002258341 RCV002290817

NM_000546.6(TP53):c.1109A>C (p.Lys370Thr)

SNV
Germline

Chr17:7669682

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_2150988865

2 SubmittersRCV002014214 RCV002458991

NM_000546.6(TP53):c.622G>T (p.Asp208Tyr)

SNV
Germline/somatic

Chr17:7674909

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Lung adenocarcinoma

Criteria Provided
Conflicting Classifications

rs_1597368376

2 SubmittersRCV002042272 RCV003128818

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

SNV
Germline

Chr17:7675172

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_1453167097

3 SubmittersRCV002051460 RCV003464164 RCV004038887

NM_000546.6(TP53):c.485T>A (p.Ile162Asn)

SNV
Germline

Chr17:7675127

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_587780069

2 SubmittersRCV001909548 RCV003339812

NM_000546.6(TP53):c.726C>A (p.Cys242Ter)

SNV
Germline

Chr17:7674237

Pathogenic

Li-Fraumeni syndrome

Criteria Provided
Single Submitter

rs_375874539

1 SubmittersRCV001983049

NM_000546.6(TP53):c.466C>G (p.Arg156Gly)

SNV
Germline

Chr17:7675146

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome

Criteria Provided
Conflicting Classifications

rs_563378859

2 SubmittersRCV002337157 RCV002021337

NM_000546.6(TP53):c.383C>G (p.Pro128Arg)

SNV
Germline

Chr17:7675229

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002299889 RCV003340480

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

SNV
Germline

Chr17:7675206

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV002569348 RCV003475387 RCV004067553

NM_000546.6(TP53):c.37C>G (p.Pro13Ala)

SNV
Germline

Chr17:7676558

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002363952 RCV003775735

NM_000546.6(TP53):c.376T>C (p.Tyr126His)

SNV
Germline

Chr17:7675236

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002351076 RCV003094357

NM_000546.6(TP53):c.653T>A (p.Val218Glu)

SNV
Germline

Chr17:7674878

Likely pathogenic

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002364323 RCV004054380

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

SNV
Germline

Chr17:7675084

Pathogenic

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002344496 RCV003327303

NM_000546.6(TP53):c.643A>T (p.Ser215Cys)

SNV
Germline

Chr17:7674888

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002361765 RCV003103297

NM_000546.6(TP53):c.754C>G (p.Leu252Val)

SNV
Germline

Chr17:7674209

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002393970 RCV003509732

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

SNV
Germline/somatic

Chr17:7674202

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

5 SubmittersRCV002396262 RCV002509835 RCV003454197 RCV003509733

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

SNV
Germline

Chr17:7674252

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002367440 RCV004055277

NM_000546.6(TP53):c.850A>C (p.Thr284Pro)

SNV
Germline

Chr17:7673770

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002414414 RCV003621639

NM_000546.6(TP53):c.930C>T (p.Asn310=)

SNV
Germline

Chr17:7673598

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002371564 RCV003621641

NM_000546.6(TP53):c.158G>T (p.Trp53Leu)

SNV
Germline

Chr17:7676211

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002398408 RCV003621650

NM_000546.6(TP53):c.1101C>T (p.Ser367=)

SNV
Germline

Chr17:7669690

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002433009 RCV003621660

NM_000546.6(TP53):c.221C>G (p.Ala74Gly)

SNV
Germline

Chr17:7676148

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002420116 RCV003098730

NM_000546.6(TP53):c.256G>C (p.Ala86Pro)

SNV
Germline

Chr17:7676113

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome

Criteria Provided
Conflicting Classifications

3 SubmittersRCV002452757 RCV003101984

NM_000546.6(TP53):c.281C>A (p.Ser94Ter)

SNV
Germline

Chr17:7676088

Pathogenic

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002441793 RCV003621665

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

SNV
Germline

Chr17:7676060

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV003041278 RCV003321971 RCV004070149

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

SNV
Germline

Chr17:7675095

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002596262 RCV004069069

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

SNV
Germline

Chr17:7675218

Pathogenic

Li-Fraumeni syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV002838608

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

SNV
Germline

Chr17:7676030

Likely pathogenic

Li-Fraumeni syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003049541

NM_000546.6(TP53):c.1051A>T (p.Lys351Ter)

SNV
Somatic

Chr17:7670658

Pathogenic

Lung adenocarcinoma
Li-Fraumeni syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003129624 RCV004245991

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

SNV
Unknown

Chr17:7674179

Likely pathogenic

Li-Fraumeni syndrome 1

Criteria Provided
Single Submitter

1 SubmittersRCV003140387

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

SNV
Germline

Chr17:7674858

Pathogenic/Likely pathogenic

Condition: not provided
Li-Fraumeni syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003222898 RCV004285584

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

SNV
Germline

Chr17:7676044

Likely pathogenic

Li-Fraumeni syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003387704

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

SNV
Germline

Chr17:7674261

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV003400069 RCV003621705 RCV004362837

NM_007194.4(CHEK2):c.844C>G (p.His282Asp)

SNV
Germline

Chr22:28710008

Likely pathogenic

Li-Fraumeni syndrome 2

No Assertion Criteria Provided

1 SubmittersRCV003494019

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

SNV
Germline

Chr17:7673767

Pathogenic

Li-Fraumeni syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003510292

NM_000546.6(TP53):c.919G>A (p.Ala307Thr)

SNV
Germline

Chr17:7673701

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003622572 RCV004371656

NM_000546.6(TP53):c.1023C>A (p.Phe341Leu)

SNV
Germline

Chr17:7670686

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV004016228 RCV004371957

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

SNV
Unknown

Chr17:7673808

Likely pathogenic

Li-Fraumeni syndrome 1

Criteria Provided
Single Submitter

1 SubmittersRCV004437827

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

SNV
Unknown

Chr17:7676257

Pathogenic

Li-Fraumeni syndrome 1

Criteria Provided
Single Submitter

1 SubmittersRCV004440023

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

SNV
Unknown

Chr17:7674973

Likely pathogenic

Li-Fraumeni syndrome 1

Criteria Provided
Single Submitter

1 SubmittersRCV004440060

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

SNV
Unknown

Chr17:7674180

Likely pathogenic

Li-Fraumeni syndrome 1

Criteria Provided
Single Submitter

1 SubmittersRCV004440069

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

SNV
Unknown

Chr17:7676274

Likely pathogenic

Li-Fraumeni syndrome 1

Criteria Provided
Single Submitter

1 SubmittersRCV004440133

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

SNV
Unknown

Chr17:7674972

Likely pathogenic

Li-Fraumeni syndrome 1

Criteria Provided
Single Submitter

1 SubmittersRCV004440153

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

SNV
Unknown

Chr17:7674914

Pathogenic

Li-Fraumeni syndrome 1

Criteria Provided
Single Submitter

1 SubmittersRCV004440232

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

SNV
Unknown

Chr17:7670608

Likely pathogenic

Li-Fraumeni syndrome 1

Criteria Provided
Single Submitter

1 SubmittersRCV004440339

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

SNV
Unknown

Chr17:7673610

Likely pathogenic

Li-Fraumeni syndrome 1

Criteria Provided
Single Submitter

1 SubmittersRCV004440368

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

SNV
Germline

Chr17:7674206

Likely pathogenic

Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV004442665 RCV004442664