Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121912666
rs121912666
TP53
0.820 GeneticVariation UNIPROT A germ line mutation in exon 5 of the p53 gene in an extended cancer family. 1933902

1991
dbSNP: rs121912666
rs121912666
TP53
0.820 GeneticVariation UNIPROT A germline missense mutation R337C in exon 10 of the human p53 gene. 9452042

1998
dbSNP: rs121912666
rs121912666
TP53
C 0.820 CausalMutation CLINVAR A global suppressor motif for p53 cancer mutants. 15037740

2004
dbSNP: rs121912666
rs121912666
TP53
C 0.820 CausalMutation CLINVAR A novel HER2-positive breast cancer phenotype arising from germline TP53 mutations. 20805372

2010
dbSNP: rs121912666
rs121912666
TP53
0.820 GeneticVariation UNIPROT A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment. 25394175

2015
dbSNP: rs121912666
rs121912666
TP53
C 0.820 CausalMutation CLINVAR Absence of germline p16(INK4a) alterations in p53 wild type Li-Fraumeni syndrome families. 10922393

2000
dbSNP: rs121912666
rs121912666
TP53
0.820 GeneticVariation UNIPROT ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. 25356965

2015
dbSNP: rs121912666
rs121912666
TP53
0.820 GeneticVariation UNIPROT ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 23788249

2013
dbSNP: rs121912666
rs121912666
TP53
C 0.820 CausalMutation CLINVAR Altered-function p53 missense mutations identified in breast cancers can have subtle effects on transactivation. 20407015

2010
dbSNP: rs121912666
rs121912666
TP53
0.820 GeneticVariation UNIPROT American Cancer Society guidelines for breast screening with MRI as an adjunct to mammography. 17392385

2007
dbSNP: rs121912666
rs121912666
TP53
0.820 GeneticVariation UNIPROT American Society of Clinical Oncology Expert Statement: collection and use of a cancer family history for oncology providers. 24493721

2014
dbSNP: rs121912666
rs121912666
TP53
0.820 GeneticVariation UNIPROT American Society of Clinical Oncology policy statement update: genetic and genomic testing for cancer susceptibility. 20065170

2010
dbSNP: rs121912666
rs121912666
TP53
0.820 GeneticVariation UNIPROT American Society of Clinical Oncology policy statement update: genetic testing for cancer susceptibility. 12692171

2003
dbSNP: rs121912666
rs121912666
TP53
0.820 GeneticVariation UNIPROT An extended Li-Fraumeni kindred with gastric carcinoma and a codon 175 mutation in TP53. 8825920

1995
dbSNP: rs121912666
rs121912666
TP53
C 0.820 CausalMutation CLINVAR Analysis of the DNA-binding activity of p53 mutants using functional protein microarrays and its relationship to transcriptional activation. 20128691

2010
dbSNP: rs121912666
rs121912666
TP53
G 0.820 CausalMutation CLINVAR Dominant-negative features of mutant TP53 in germline carriers have limited impact on cancer outcomes. 21343334

2011
dbSNP: rs121912666
rs121912666
TP53
C 0.820 CausalMutation CLINVAR Dominant-negative features of mutant TP53 in germline carriers have limited impact on cancer outcomes. 21343334

2011
dbSNP: rs121912666
rs121912666
TP53
C 0.820 CausalMutation CLINVAR Early detection of adrenocortical carcinoma in a child with Li-Fraumeni syndrome. 19101993

2009
dbSNP: rs121912666
rs121912666
TP53
C 0.820 CausalMutation CLINVAR Early onset HER2-positive breast cancer is associated with germline TP53 mutations. 21761402

2012
dbSNP: rs121912666
rs121912666
TP53
0.820 GeneticVariation BEFREE Genetic analysis revealed a germline missense mutation in the p53 gene (c.659 A > G), resulting in Y220C, which has been reported in three families with LFS. 18307025

2008
dbSNP: rs121912666
rs121912666
TP53
C 0.820 CausalMutation CLINVAR Genetic analysis revealed a germline missense mutation in the p53 gene (c.659 A > G), resulting in Y220C, which has been reported in three families with LFS. 18307025

2008
dbSNP: rs121912666
rs121912666
TP53
0.820 GeneticVariation UNIPROT Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. 15604628

2004
dbSNP: rs121912666
rs121912666
TP53
C 0.820 CausalMutation CLINVAR Genetic evaluation based on family history and Her2 status correctly identifies TP53 mutations in very early onset breast cancer cases. 24702488

2015
dbSNP: rs121912666
rs121912666
TP53
0.820 GeneticVariation UNIPROT Germ line p53 mutations in a familial syndrome of breast cancer, sarcomas, and other neoplasms. 1978757

1990
dbSNP: rs121912666
rs121912666
TP53
C 0.820 CausalMutation CLINVAR Germ-line mutations of TP53 in Li-Fraumeni families: an extended study of 39 families. 9242456

1997