Gene: TP53 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121912653
rs121912653
TP53
0.700 GeneticVariation UNIPROT Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. 27854360

2017
dbSNP: rs121912655
rs121912655
TP53
T 0.700 CausalMutation CLINVAR The Clinical Utility of Next Generation Sequencing Results in a Community-Based Hereditary Cancer Risk Program. 27276934

2017
dbSNP: rs121912657
rs121912657
TP53
0.700 GeneticVariation UNIPROT Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. 27854360

2017
dbSNP: rs121913344
rs121913344
TP53
A 0.700 CausalMutation CLINVAR Li-Fraumeni syndrome presenting as mucosal melanoma: Case report and treatment considerations. 27726232

2017
dbSNP: rs267605076
rs267605076
TP53
T 0.700 CausalMutation CLINVAR Synonymous mutation in TP53 results in a cryptic splice site affecting its DNA-binding site in an adolescent with two primary sarcomas. 28475293

2017
dbSNP: rs28934873
rs28934873
TP53
0.700 GeneticVariation UNIPROT Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. 27854360

2017
dbSNP: rs587780075
rs587780075
TP53
0.700 GeneticVariation UNIPROT Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. 27854360

2017
dbSNP: rs730882018
rs730882018
TP53
CG 0.700 CausalMutation CLINVAR Germline TP53 mutations result into a constitutive defect of p53 DNA binding and transcriptional response to DNA damage. 28369373

2017
dbSNP: rs876660821
rs876660821
TP53
C 0.700 CausalMutation CLINVAR Germline Mutations in Cancer Susceptibility Genes in a Large Series of Unselected Breast Cancer Patients. 28724667

2017
dbSNP: rs1057519989
rs1057519989
TP53
T 0.700 CausalMutation CLINVAR Genetic and functional analysis of a Li Fraumeni syndrome family in China. 26818906

2016
dbSNP: rs1131691026
rs1131691026
TP53
T 0.700 CausalMutation CLINVAR TP53 Variations in Human Cancers: New Lessons from the IARC TP53 Database and Genomics Data. 27328919

2016
dbSNP: rs1131691026
rs1131691026
TP53
T 0.700 CausalMutation CLINVAR Biochemical and imaging surveillance in germline TP53 mutation carriers with Li-Fraumeni syndrome: 11 year follow-up of a prospective observational study. 27501770

2016
dbSNP: rs11575997
rs11575997
TP53
T 0.700 CausalMutation CLINVAR Biochemical and imaging surveillance in germline TP53 mutation carriers with Li-Fraumeni syndrome: 11 year follow-up of a prospective observational study. 27501770

2016
dbSNP: rs17882252
rs17882252
TP53
A 0.700 CausalMutation CLINVAR Inherited mutations in cancer susceptibility genes are common among survivors of breast cancer who develop therapy-related leukemia. 26641009

2016
dbSNP: rs397516434
rs397516434
TP53
T 0.700 GeneticVariation CLINVAR Risks of first and subsequent cancers among TP53 mutation carriers in the National Cancer Institute Li-Fraumeni syndrome cohort. 27496084

2016
dbSNP: rs397516434
rs397516434
TP53
T 0.700 GeneticVariation CLINVAR Biochemical and imaging surveillance in germline TP53 mutation carriers with Li-Fraumeni syndrome: 11 year follow-up of a prospective observational study. 27501770

2016
dbSNP: rs397516435
rs397516435
TP53
A 0.700 CausalMutation CLINVAR Biochemical and imaging surveillance in germline TP53 mutation carriers with Li-Fraumeni syndrome: 11 year follow-up of a prospective observational study. 27501770

2016
dbSNP: rs397516435
rs397516435
TP53
A 0.700 CausalMutation CLINVAR Incidental germline variants in 1000 advanced cancers on a prospective somatic genomic profiling protocol. 26787237

2016
dbSNP: rs55863639
rs55863639
TP53
T 0.700 CausalMutation CLINVAR Biochemical and imaging surveillance in germline TP53 mutation carriers with Li-Fraumeni syndrome: 11 year follow-up of a prospective observational study. 27501770

2016
dbSNP: rs587780074
rs587780074
TP53
T 0.700 GeneticVariation CLINVAR Targeted massively parallel sequencing of a panel of putative breast cancer susceptibility genes in a large cohort of multiple-case breast and ovarian cancer families. 26534844

2016
dbSNP: rs730882001
rs730882001
TP53
A 0.700 CausalMutation CLINVAR Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing. 26681312

2016
dbSNP: rs730882029
rs730882029
TP53
A 0.700 CausalMutation CLINVAR Detection of high frequency of mutations in a breast and/or ovarian cancer cohort: implications of embracing a multi-gene panel in molecular diagnosis in India. 26911350

2016
dbSNP: rs730882029
rs730882029
TP53
A 0.700 CausalMutation CLINVAR Complex analysis of the p53 tumor suppressor in lung carcinoma. 26718964

2016
dbSNP: rs760043106
rs760043106
TP53
G 0.700 CausalMutation CLINVAR Targeted massively parallel sequencing of a panel of putative breast cancer susceptibility genes in a large cohort of multiple-case breast and ovarian cancer families. 26534844

2016
dbSNP: rs786201057
rs786201057
TP53
A 0.700 GeneticVariation CLINVAR Improving performance of multigene panels for genomic analysis of cancer predisposition. 26845104

2016