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 BEFREE The TP53 germ line mutation c.659A>C (p.Y220S) was identified in stored DNA from related patients with Li-Fraumeni syndrome (LFS) who died after developing clinically aggressive tumors. 15977174

2005
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
G 0.820 CausalMutation CLINVAR Understanding the function-structure and function-mutation relationships of p53 tumor suppressor protein by high-resolution missense mutation analysis. 12826609

2003
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
C 0.820 CausalMutation CLINVAR Rapid profiling of disease alleles using a tunable reporter of protein misfolding. 22923379

2012
dbSNP: rs121912666
rs121912666
TP53
G 0.820 CausalMutation CLINVAR The TP53 germ line mutation c.659A>C (p.Y220S) was identified in stored DNA from related patients with Li-Fraumeni syndrome (LFS) who died after developing clinically aggressive tumors. 15977174

2005
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
C 0.820 CausalMutation CLINVAR A novel HER2-positive breast cancer phenotype arising from germline TP53 mutations. 20805372

2010
dbSNP: rs121912666
rs121912666
TP53
C 0.820 CausalMutation CLINVAR Mutational processes shape the landscape of TP53 mutations in human cancer. 30224644

2018
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
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 Transcriptional regulation of the c-H-ras1 gene by the P53 protein is implicated in the development of human endometrial and ovarian tumours. 9662334

1998
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
dbSNP: rs121912666
rs121912666
TP53
C 0.820 CausalMutation CLINVAR Germ-line TP53 mutations in Finnish cancer families exhibiting features of the Li-Fraumeni syndrome and negative for BRCA1 and BRCA2. 10432928

1999
dbSNP: rs121912666
rs121912666
TP53
C 0.820 CausalMutation CLINVAR Germline mutations of p53 but not p16/CDKN2 or PTEN/MMAC1 tumor suppressor genes predispose to gliomas. The ANOCEF Group. Association des NeuroOncologues d'Expression Française. 10589545

1999
dbSNP: rs121912666
rs121912666
TP53
C 0.820 CausalMutation CLINVAR Structural basis for understanding oncogenic p53 mutations and designing rescue drugs. 17015838

2006
dbSNP: rs121912666
rs121912666
TP53
G 0.820 CausalMutation CLINVAR Transcriptional functionality of germ line p53 mutants influences cancer phenotype. 17606709

2007
dbSNP: rs121912666
rs121912666
TP53
G 0.820 CausalMutation CLINVAR High frequency of de novo mutations in Li-Fraumeni syndrome. 19556618

2009
dbSNP: rs121912666
rs121912666
TP53
C 0.820 CausalMutation CLINVAR Identification of genetic susceptibility to childhood cancer through analysis of genes in parallel. 21356188

2011
dbSNP: rs121912666
rs121912666
TP53
C 0.820 CausalMutation CLINVAR Understanding the function-structure and function-mutation relationships of p53 tumor suppressor protein by high-resolution missense mutation analysis. 12826609

2003
dbSNP: rs121912666
rs121912666
TP53
C 0.820 CausalMutation CLINVAR The TP53 germ line mutation c.659A>C (p.Y220S) was identified in stored DNA from related patients with Li-Fraumeni syndrome (LFS) who died after developing clinically aggressive tumors. 15977174

2005
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 Small molecule induced reactivation of mutant p53 in cancer cells. 23630318

2013
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