ClinVar Miner

Variants in gene TP53

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Gene type:
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If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign drug response risk factor not provided total
507 428 1001 601 78 5 2 65 2131

Condition and significance breakdown #

Total conditions: 97
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Condition pathogenic likely pathogenic uncertain significance likely benign benign drug response risk factor not provided total
Li-Fraumeni syndrome 270 95 752 209 15 0 0 0 1291
Hereditary cancer-predisposing syndrome 182 127 419 447 27 0 0 0 1136
not provided 76 66 149 83 12 0 0 40 401
not specified 4 5 64 137 44 0 0 14 239
Neoplasm of ovary 88 137 0 0 0 0 0 2 226
Squamous cell carcinoma of the head and neck 14 184 11 13 4 0 0 0 220
Breast neoplasm 3 191 0 0 0 0 0 3 197
Lung adenocarcinoma 0 193 0 0 0 0 0 0 193
Ovarian Serous Cystadenocarcinoma 0 185 0 0 0 0 0 0 185
Li-Fraumeni syndrome 1 35 17 85 44 15 0 0 0 182
Pancreatic adenocarcinoma 0 175 0 0 0 0 0 0 175
Carcinoma of esophagus 0 163 0 0 0 0 0 0 163
Neoplasm of brain 0 162 0 0 0 0 0 0 162
Neoplasm of the large intestine 0 160 0 0 0 0 0 0 160
Hepatocellular carcinoma 2 157 0 0 0 0 0 0 159
Adenocarcinoma of stomach 0 157 0 0 0 0 0 0 157
Squamous cell lung carcinoma 0 152 0 0 0 0 0 0 152
Glioblastoma 0 120 0 0 0 0 0 0 120
Transitional cell carcinoma of the bladder 0 119 0 0 0 0 0 0 119
Uterine Carcinosarcoma 0 111 0 0 0 0 0 0 111
Malignant neoplasm of body of uterus 0 108 0 0 0 0 0 0 108
Malignant melanoma of skin 0 92 0 0 0 0 0 0 92
Small cell lung carcinoma 0 77 0 0 0 0 0 0 77
Squamous cell carcinoma of the skin 0 76 0 0 0 0 0 0 76
Adenocarcinoma of prostate 0 75 0 0 0 0 0 0 75
Multiple myeloma 0 65 0 0 0 0 0 0 65
Acute myeloid leukemia 0 62 0 0 0 0 0 0 62
Renal cell carcinoma, papillary, 1 0 61 0 0 0 0 0 0 61
Chronic lymphocytic leukemia 0 55 0 0 0 0 0 0 55
Brainstem glioma 0 44 0 0 0 0 0 0 44
Adrenocortical carcinoma 0 39 0 0 0 0 0 0 39
Malignant tumor of breast 4 2 12 7 4 0 0 0 29
Medulloblastoma 0 20 0 0 0 0 0 0 20
Neoplasm of uterine cervix 0 19 0 0 0 0 0 0 19
Lip and oral cavity carcinoma 17 1 0 0 0 0 0 0 18
Non-Hodgkin lymphoma 1 15 0 0 0 0 0 0 16
Papillary renal cell carcinoma, sporadic 0 16 0 0 0 0 0 0 16
Familial cancer of breast 8 1 2 2 0 0 0 2 15
Carcinoma of gallbladder 0 14 0 0 0 0 0 0 14
Rhabdomyosarcoma (disease) 10 1 1 0 0 0 0 0 12
Hereditary breast and ovarian cancer syndrome 1 1 8 0 1 0 0 0 11
none provided 2 0 0 2 7 0 0 0 11
Adrenocortical carcinoma, hereditary; Familial cancer of breast; Glioma susceptibility 1; Osteosarcoma; Li-Fraumeni syndrome 1; Nasopharyngeal carcinoma; Carcinoma of pancreas; Choroid plexus papilloma; Carcinoma of colon; Basal cell carcinoma, susceptibility to, 7; Hepatocellular carcinoma 5 1 4 0 0 0 0 0 10
Nasopharyngeal Neoplasms 0 10 0 0 0 0 0 0 10
Adenoid cystic carcinoma 0 9 0 0 0 0 0 0 9
Colorectal cancer 6 0 0 1 0 0 0 0 7
Neuroblastoma 0 7 0 0 0 0 0 0 7
Gallbladder cancer 3 2 1 0 0 0 0 0 6
Li-Fraumeni-like syndrome 6 0 0 0 0 0 0 0 6
Neoplasm 0 6 0 0 0 0 0 0 6
Sarcoma 1 0 0 0 0 0 0 5 6
Breast and/or ovarian cancer 3 1 1 0 0 0 0 0 5
Malignant tumor of esophagus 4 0 0 1 0 0 0 0 5
Malignant tumor of prostate 0 0 5 0 0 0 0 0 5
Myelodysplastic syndrome 0 5 0 0 0 0 0 0 5
Carcinoma of colon 0 1 3 0 0 0 0 0 4
PARP Inhibitor response 0 0 0 0 0 4 0 0 4
Bone marrow failure syndrome 5 2 0 1 0 0 0 0 0 3
Familial ovarian cancer 1 0 2 0 0 0 0 0 3
Adrenocortical carcinoma, pediatric 2 0 0 0 0 0 0 0 2
Breast adenocarcinoma 2 0 0 0 0 0 0 0 2
Carcinoma of pancreas 1 1 0 0 0 0 0 0 2
Choroid plexus carcinoma 2 0 0 0 0 0 0 0 2
Diamond-Blackfan anemia 2 0 0 0 0 0 0 0 2
Familial colorectal cancer 2 0 0 0 0 0 0 0 2
Malignant Colorectal Neoplasm 1 1 0 0 0 0 0 0 2
Osteosarcoma 2 0 0 0 0 0 0 0 2
Acute megakaryoblastic leukemia; Mediastinal germ cell tumor 1 0 0 0 0 0 0 0 1
Adenocarcinoma 0 1 0 0 0 0 0 0 1
Adrenocortical carcinoma, hereditary 1 0 0 0 0 0 0 0 1
Astrocytoma 0 0 1 0 0 0 0 0 1
Astrocytoma, anaplastic 1 0 0 0 0 0 0 0 1
Astrocytoma, anaplastic; Pleomorphic xanthoastrocytoma 1 0 0 0 0 0 0 0 1
Atypical teratoid/rhabdoid tumor 1 0 0 0 0 0 0 0 1
Basal cell carcinoma, susceptibility to, 7 0 0 0 0 0 0 1 0 1
CODON 72 POLYMORPHISM 0 0 0 0 1 0 0 0 1
Cancer of cervix 1 0 0 0 0 0 0 0 1
Choroid plexus papilloma 1 0 0 0 0 0 0 0 1
Colorectal polyposis; Colonic neoplasm 0 0 1 0 0 0 0 0 1
Endometrial carcinoma 0 0 0 1 0 0 0 0 1
Glioma susceptibility 1 0 0 0 0 0 0 1 0 1
Head and Neck Neoplasms 0 1 0 0 0 0 0 0 1
Hepatoblastoma 1 0 0 0 0 0 0 0 1
Lymphoma 0 1 0 0 0 0 0 0 1
Metastatic pancreatic neuroendocrine tumours 0 1 0 0 0 0 0 0 1
Nasopharyngeal carcinoma 1 0 0 0 0 0 0 0 1
Neoplasm of stomach 0 1 0 0 0 0 0 0 1
Pectus excavatum; Acute myeloid leukemia; Short stature; Cognitive impairment; Webbed neck; Pancytopenia; Abnormality of the tongue 1 0 0 0 0 0 0 0 1
See cases 0 0 0 1 0 0 0 0 1
Small cell carcinoma of the ovary, hypercalcemic type 0 1 0 0 0 0 0 0 1
Thyroid gland undifferentiated (anaplastic) carcinoma 1 0 0 0 0 0 0 0 1
Vulvar adenocarcinoma of mammary gland type 0 1 0 0 0 0 0 0 1
antineoplastic agents response - Efficacy, Toxicity/ADR 0 0 0 0 0 1 0 0 1
cisplatin response - Efficacy, Toxicity/ADR 0 0 0 0 0 1 0 0 1
cyclophosphamide response - Efficacy, Toxicity/ADR 0 0 0 0 0 1 0 0 1
fluorouracil response - Efficacy, Toxicity/ADR 0 0 0 0 0 1 0 0 1
paclitaxel response - Efficacy, Toxicity/ADR 0 0 0 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 87
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign drug response risk factor not provided total
Invitae 260 70 725 213 12 0 0 0 1280
Ambry Genetics 168 110 320 228 6 0 0 0 832
Color Health, Inc 22 22 192 298 21 0 0 0 555
GeneDx 62 43 117 115 24 0 0 0 361
German Consortium for Hereditary Breast and Ovarian Cancer Center Cologne,University Hospital Cologne 87 137 0 0 0 0 0 0 224
Database of Curated Mutations (DoCM) 0 206 0 0 0 0 0 3 206
Counsyl 5 10 47 35 3 0 0 0 100
Integrated Genetics/Laboratory Corporation of America 9 6 34 27 13 0 0 0 89
Quest Diagnostics Nichols Institute San Juan Capistrano 12 7 36 21 10 0 0 0 86
ClinGen TP53 Variant Curation Expert Panel,ClinGen 14 10 15 18 6 0 0 0 63
Illumina Clinical Services Laboratory,Illumina 1 0 33 9 14 0 0 0 57
Mendelics 10 8 16 13 4 0 0 0 51
Mayo Clinic Laboratories, Mayo Clinic 14 9 9 7 8 0 0 0 47
OMIM 39 0 0 0 1 0 2 0 42
Department of Pathology and Laboratory Medicine,Sinai Health System 5 2 19 12 4 0 0 0 42
MutSpliceDB: a database of splice sites variants effects on splicing,NIH 0 0 0 0 0 0 0 38 38
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 11 7 11 2 2 0 0 0 33
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 7 2 7 4 13 0 0 0 33
Institute of Biochemistry, Molecular Biology and Biotechnology,University of Colombo 24 2 0 5 0 0 0 0 31
PreventionGenetics, PreventionGenetics 1 0 6 7 13 0 0 0 27
CeGaT Praxis fuer Humangenetik Tuebingen 11 0 7 5 0 0 0 0 23
Institute of Medical Sciences, Banaras Hindu University 20 3 1 0 0 0 0 0 23
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 7 0 5 0 4 0 0 0 16
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 13 3 0 0 0 0 0 0 16
Pathway Genomics 8 1 5 0 1 0 0 0 15
ITMI 0 0 0 0 0 0 0 14 14
Cancer Variant Interpretation Group UK, Institute of Cancer Research, London 1 3 7 0 0 0 0 0 11
Genetic Services Laboratory, University of Chicago 2 3 3 2 0 0 0 0 10
Fulgent Genetics,Fulgent Genetics 5 1 4 0 0 0 0 0 10
CSER _CC_NCGL, University of Washington 2 2 3 3 0 0 0 0 10
GeneKor MSA 2 4 4 0 0 0 0 0 10
University of Washington Department of Laboratory Medicine, University of Washington 4 2 2 3 0 0 0 0 10
Laboratory of Translational Genomics, National Cancer Institute 0 0 0 0 0 0 0 9 9
True Health Diagnostics 0 0 4 5 0 0 0 0 9
Cancer Genomics Group,Japanese Foundation For Cancer Research 0 0 8 0 1 0 0 0 9
Clinical Genetics Karolinska University Hospital,Karolinska University Hospital 3 4 0 0 0 0 0 0 7
Institute of Human Genetics, University of Leipzig Medical Center 1 1 3 0 1 0 0 0 6
Science for Life laboratory, Karolinska Institutet 0 0 5 0 0 0 0 0 5
St. Jude Clinical Genomics Lab, St. Jude Children's Research Hospital 1 1 0 1 2 0 0 0 5
CZECANCA consortium 3 2 0 0 0 0 0 0 5
Division of Medical Genetics, University of Washington 0 0 5 0 0 0 0 0 5
Baylor Genetics 1 0 3 0 0 0 0 0 4
Genome Sciences Centre,British Columbia Cancer Agency 1 3 0 0 0 0 0 0 4
Institute for Biomarker Research,Medical Diagnostic Laboratories, L.L.C. 0 0 1 3 0 0 0 0 4
Oxford Haemato-Oncology Service,Oxford University Hospitals NHS Foundation Trust 0 0 0 0 0 4 0 0 4
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 4 0 0 0 4
Department of Molecular Diagnostics, Institute of Oncology Ljubljana 3 1 0 0 0 0 0 0 4
Department of Pediatric Oncology, Hematology and Clinical Immunology,University Clinics Duesseldorf 3 1 0 0 0 0 0 0 4
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 0 1 0 2 0 0 0 3
Richard Lifton Laboratory, Yale University School of Medicine 0 3 1 0 0 0 0 0 3
Biesecker Lab/Clinical Genomics Section,National Institutes of Health 0 0 1 0 1 0 0 0 2
King Laboratory,University of Washington 1 0 0 0 1 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 2 0 0 0 0 0 0 2
Donald Williams Parsons Laboratory,Baylor College of Medicine 1 1 0 0 0 0 0 0 2
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 2 0 0 0 0 0 2
A.C.Camargo Cancer Center / LGBM, A.C.Camargo Cancer Center 2 0 0 0 0 0 0 0 2
CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles 2 0 0 0 0 0 0 0 2
Academic Center for Education, Culture and Research, Motamed Cancer Institute 2 0 0 0 0 0 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 0 0 0 0 0 0 0 2
Department of Pediatrics,Hirosaki University Graduate School of Medicine 2 0 0 0 0 0 0 0 2
Johns Hopkins Genomics, Johns Hopkins University 0 1 0 1 0 0 0 0 2
Xiao lab, Department of Pathology, Memorial Sloan Kettering Cancer Center 0 2 0 0 0 0 0 0 2
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario 0 0 1 0 0 0 0 0 1
Clinical Molecular Diagnostic Laboratory,City of Hope National Medical Center 1 0 0 0 0 0 0 0 1
PharmGKB 0 0 0 0 0 1 0 0 1
Genomics and Pathology Services,Washington University in St.Louis 0 0 1 0 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 1 0 0 0 0 0 0 0 1
ISCA site 6 0 0 0 1 0 0 0 0 1
McDonnell Genome Institute,Washington University in St. Louis 1 0 0 0 0 0 0 0 1
Vantari Genetics 0 0 0 0 1 0 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 1 0 0 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 1 0 0 0 0 0 0 0 1
Molecular Diagnostics Lab,GoPath Laboratories 1 0 0 0 0 0 0 0 1
IntelligeneCG 0 0 0 0 1 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 0 0 1 1
Yang An-Suei Laboratory,Academia Sinica 1 0 0 0 0 0 0 0 1
Genomics Laboratory,Virgen de la Arrixaca University Clinical Hospital 1 0 0 0 0 0 0 0 1
Tampere Brain Tumor Research Consortium,University of Tampere 1 0 0 0 0 0 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 1 0 0 0 0 0 0 0 1
Cancer Genomics Laboratory, Texas Children's Hospital 0 1 0 0 0 0 0 0 1
Western Connecticut Health Network,Rudy L. Ruggles Biomedical Research Institute 1 0 0 0 0 0 0 0 1
Gharavi Laboratory,Columbia University 0 1 0 0 0 0 0 0 1
Seelig Lab,University of Washington 0 0 0 0 0 0 0 1 1
Michigan Center for Translational Pathology,University of Michigan 1 0 0 0 0 0 0 0 1
Centre for translational and clinical research,Clinical hospital centre Zagreb 0 1 0 0 0 0 0 0 1
Nilou-Genome Lab 1 0 0 0 0 0 0 0 1

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