Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28897743
rs28897743
BRCA2
A 0.700 CausalMutation CLINVAR Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification. 31131967

2019
dbSNP: rs28897743
rs28897743
BRCA2
A 0.700 CausalMutation CLINVAR A comprehensive focus on global spectrum of BRCA1 and BRCA2 mutations in breast cancer. 24312913

2013
dbSNP: rs28897743
rs28897743
BRCA2
A 0.700 CausalMutation CLINVAR Guidelines for splicing analysis in molecular diagnosis derived from a set of 327 combined in silico/in vitro studies on BRCA1 and BRCA2 variants. 22505045

2012
dbSNP: rs28897743
rs28897743
BRCA2
A 0.700 CausalMutation CLINVAR Detection of BRCA1/2 mutations in breast cancer patients from Thailand and Pakistan. 22486713

2012
dbSNP: rs28897743
rs28897743
BRCA2
A 0.700 CausalMutation CLINVAR A comprehensive functional characterization of BRCA2 variants associated with Fanconi anemia using mouse ES cell-based assay. 21719596

2011
dbSNP: rs28897743
rs28897743
BRCA2
A 0.700 CausalMutation CLINVAR A high proportion of DNA variants of BRCA1 and BRCA2 is associated with aberrant splicing in breast/ovarian cancer patients. 20215541

2010
dbSNP: rs28897743
rs28897743
BRCA2
A 0.700 CausalMutation CLINVAR Spectrum and characterisation of BRCA1 and BRCA2 deleterious mutations in high-risk Czech patients with breast and/or ovarian cancer. 18489799

2008
dbSNP: rs28897743
rs28897743
BRCA2
A 0.700 CausalMutation CLINVAR Functional assays for classification of BRCA2 variants of uncertain significance. 18451181

2008
dbSNP: rs28897743
rs28897743
BRCA2
A 0.700 CausalMutation CLINVAR A systematic genetic assessment of 1,433 sequence variants of unknown clinical significance in the BRCA1 and BRCA2 breast cancer-predisposition genes. 17924331

2007
dbSNP: rs28897743
rs28897743
BRCA2
A 0.700 CausalMutation CLINVAR A missense mutation in exon 13 in BRCA2, c.7235G>A, results in skipping of exon 13. 16792514

2006
dbSNP: rs28897743
rs28897743
BRCA2
A 0.700 CausalMutation CLINVAR Inherited FANCD1/BRCA2 exon 7 splice mutations associated with acute myeloid leukaemia in Fanconi anaemia D1 are not found in sporadic childhood leukaemia. 16115142

2005
dbSNP: rs28897743
rs28897743
BRCA2
A 0.700 CausalMutation CLINVAR BRCA1 and BRCA2 germline mutation spectrum and frequencies in Belgian breast/ovarian cancer families. 15026808

2004
dbSNP: rs28897743
rs28897743
BRCA2
A 0.700 CausalMutation CLINVAR Biallelic inactivation of BRCA2 in Fanconi anemia. 12065746

2002
dbSNP: rs28897743
rs28897743
BRCA2
T 0.700 CausalMutation CLINVAR

dbSNP: rs28897743
rs28897743
BRCA2
C 0.700 CausalMutation CLINVAR