Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80357446
rs80357446
A 0.700 CausalMutation CLINVAR Genomic analysis of inherited breast cancer among Palestinian women: Genetic heterogeneity and a founder mutation in TP53. 28486781

2017

dbSNP: rs80357446
rs80357446
A 0.700 CausalMutation CLINVAR Functional Assessment of Genetic Variants with Outcomes Adapted to Clinical Decision-Making. 27272900

2016

dbSNP: rs80357446
rs80357446
T 0.700 GeneticVariation CLINVAR Functional Assessment of Genetic Variants with Outcomes Adapted to Clinical Decision-Making. 27272900

2016

dbSNP: rs80357446
rs80357446
A 0.700 CausalMutation CLINVAR Massively Parallel Functional Analysis of BRCA1 RING Domain Variants. 25823446

2015

dbSNP: rs80357446
rs80357446
A 0.700 CausalMutation CLINVAR BRCA genetic screening in Middle Eastern and North African: mutational spectrum and founder BRCA1 mutation (c.798_799delTT) in North African. 25814778

2015

dbSNP: rs80357446
rs80357446
T 0.700 GeneticVariation CLINVAR Massively Parallel Functional Analysis of BRCA1 RING Domain Variants. 25823446

2015

dbSNP: rs80357446
rs80357446
A 0.700 CausalMutation CLINVAR Development and validation of a new algorithm for the reclassification of genetic variants identified in the BRCA1 and BRCA2 genes. 25085752

2014

dbSNP: rs80357446
rs80357446
T 0.700 GeneticVariation CLINVAR Multifactorial likelihood assessment of BRCA1 and BRCA2 missense variants confirms that BRCA1:c.122A>G(p.His41Arg) is a pathogenic mutation. 24489791

2014

dbSNP: rs80357446
rs80357446
A 0.700 CausalMutation CLINVAR Nonequivalent gene expression and copy number alterations in high-grade serous ovarian cancers with BRCA1 and BRCA2 mutations. 23633455

2013

dbSNP: rs80357446
rs80357446
A 0.700 CausalMutation CLINVAR Analysis of BRCA1 variants in double-strand break repair by homologous recombination and single-strand annealing. 23161852

2013

dbSNP: rs80357446
rs80357446
A 0.700 CausalMutation CLINVAR Functional differences among BRCA1 missense mutations in the control of centrosome duplication. 21725363

2012

dbSNP: rs80357446
rs80357446
T 0.700 GeneticVariation CLINVAR A review of a multifactorial probability-based model for classification of BRCA1 and BRCA2 variants of uncertain significance (VUS). 21990134

2012

dbSNP: rs80357446
rs80357446
A 0.700 CausalMutation CLINVAR Prevalance of BRCA1 and BRCA2 mutations in familial breast cancer patients in Lebanon. 22713736

2012

dbSNP: rs80357446
rs80357446
A 0.700 CausalMutation CLINVAR BRCA mutation frequency and patterns of treatment response in BRCA mutation-positive women with ovarian cancer: a report from the Australian Ovarian Cancer Study Group. 22711857

2012

dbSNP: rs80357446
rs80357446
T 0.700 GeneticVariation CLINVAR Assessment of human Nter and Cter BRCA1 mutations using growth and localization assays in yeast. 21922593

2011

dbSNP: rs80357446
rs80357446
A 0.700 CausalMutation CLINVAR Identification of breast tumor mutations in BRCA1 that abolish its function in homologous DNA recombination. 20103620

2010

dbSNP: rs80357446
rs80357446
T 0.700 GeneticVariation CLINVAR Characterization of BRCA1 ring finger variants of uncertain significance. 19543972

2010

dbSNP: rs80357446
rs80357446
A 0.700 CausalMutation CLINVAR Relation of contraceptive and reproductive history to ovarian cancer risk in carriers and noncarriers of BRCA1 gene mutations. 15383404

2004

dbSNP: rs80357446
rs80357446
A 0.700 CausalMutation CLINVAR Analysis of missense variation in human BRCA1 in the context of interspecific sequence variation. 15235020

2004

dbSNP: rs80357446
rs80357446
A 0.700 CausalMutation CLINVAR Binding and recognition in the assembly of an active BRCA1/BARD1 ubiquitin-ligase complex. 12732733

2003

dbSNP: rs80357446
rs80357446
A 0.700 CausalMutation CLINVAR Structure of a BRCA1-BARD1 heterodimeric RING-RING complex. 11573085

2001