Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs41293459
rs41293459
T 0.700 CausalMutation CLINVAR Towards controlled terminology for reporting germline cancer susceptibility variants: an ENIGMA report. 30962250

2019

dbSNP: rs41293459
rs41293459
T 0.700 CausalMutation CLINVAR Combining Homologous Recombination and Phosphopeptide-binding Data to Predict the Impact of BRCA1 BRCT Variants on Cancer Risk. 30257991

2019

dbSNP: rs41293459
rs41293459
T 0.700 CausalMutation CLINVAR Impact of amino acid substitutions at secondary structures in the BRCT domains of the tumor suppressor BRCA1: Implications for clinical annotation. 30765603

2019

dbSNP: rs41293459
rs41293459
T 0.700 CausalMutation CLINVAR The BRCA1 c. 5096G>A p.Arg1699Gln (R1699Q) intermediate risk variant: breast and ovarian cancer risk estimation and recommendations for clinical management from the ENIGMA consortium. 28490613

2018

dbSNP: rs41293459
rs41293459
T 0.700 CausalMutation CLINVAR A high-throughput functional complementation assay for classification of BRCA1 missense variants. 23867111

2013

dbSNP: rs41293459
rs41293459
T 0.700 CausalMutation CLINVAR BRCA1 R1699Q variant displaying ambiguous functional abrogation confers intermediate breast and ovarian cancer risk. 22889855

2012

dbSNP: rs41293459
rs41293459
T 0.700 GeneticVariation CLINVAR BRCA1 R1699Q variant displaying ambiguous functional abrogation confers intermediate breast and ovarian cancer risk. 22889855

2012

dbSNP: rs41293459
rs41293459
T 0.700 GeneticVariation CLINVAR A method to assess the clinical significance of unclassified variants in the BRCA1 and BRCA2 genes based on cancer family history. 19200354

2009

dbSNP: rs41293459
rs41293459
T 0.700 CausalMutation CLINVAR Identification of BRCA1 missense substitutions that confer partial functional activity: potential moderate risk variants? 18036263

2007

dbSNP: rs41293459
rs41293459
T 0.700 GeneticVariation CLINVAR Genetic and histopathologic evaluation of BRCA1 and BRCA2 DNA sequence variants of unknown clinical significance. 16489001

2006

dbSNP: rs41293459
rs41293459
T 0.700 GeneticVariation CLINVAR Integrated evaluation of DNA sequence variants of unknown clinical significance: application to BRCA1 and BRCA2. 15290653

2004

dbSNP: rs41293459
rs41293459
T 0.700 GeneticVariation CLINVAR Analysis of missense variation in human BRCA1 in the context of interspecific sequence variation. 15235020

2004

dbSNP: rs41293459
rs41293459
T 0.700 CausalMutation CLINVAR Functional analysis of BRCA1 C-terminal missense mutations identified in breast and ovarian cancer families. 11157798

2001