Gene: BRCA1 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28897696
rs28897696
BRCA1
T 0.810 CausalMutation CLINVAR

dbSNP: rs55770810
rs55770810
BRCA1
A 0.810 CausalMutation CLINVAR

dbSNP: rs41293455
rs41293455
BRCA1
0.800 GeneticVariation UNIPROT Suggestion of BRCA1 c.5339T>C (p.L1780P) variant confer from 'unknown significance' to 'Likely pathogenic' based on clinical evidence in Korea. 28364669

2017
dbSNP: rs80357389
rs80357389
BRCA1
0.800 GeneticVariation UNIPROT Suggestion of BRCA1 c.5339T>C (p.L1780P) variant confer from 'unknown significance' to 'Likely pathogenic' based on clinical evidence in Korea. 28364669

2017
dbSNP: rs41293455
rs41293455
BRCA1
0.800 GeneticVariation UNIPROT Summaries for patients. Assessing the genetic risk for BRCA-related breast or ovarian cancer in women: recommendations from the U.S. Preventive Services Task Force. 24366402

2014
dbSNP: rs41293455
rs41293455
BRCA1
0.800 GeneticVariation UNIPROT Risk assessment, genetic counseling, and genetic testing for BRCA-related cancer in women: U.S. Preventive Services Task Force recommendation statement. 24366376

2014
dbSNP: rs80357389
rs80357389
BRCA1
0.800 GeneticVariation UNIPROT Risk assessment, genetic counseling, and genetic testing for BRCA-related cancer in women: U.S. Preventive Services Task Force recommendation statement. 24366376

2014
dbSNP: rs80357389
rs80357389
BRCA1
0.800 GeneticVariation UNIPROT Summaries for patients. Assessing the genetic risk for BRCA-related breast or ovarian cancer in women: recommendations from the U.S. Preventive Services Task Force. 24366402

2014
dbSNP: rs41293455
rs41293455
BRCA1
0.800 GeneticVariation UNIPROT A high-throughput functional complementation assay for classification of BRCA1 missense variants. 23867111

2013
dbSNP: rs80357389
rs80357389
BRCA1
0.800 GeneticVariation UNIPROT A high-throughput functional complementation assay for classification of BRCA1 missense variants. 23867111

2013
dbSNP: rs41293455
rs41293455
BRCA1
0.800 GeneticVariation UNIPROT Impact of BRCA1 BRCT domain missense substitutions on phosphopeptide recognition. 21473589

2011
dbSNP: rs80357389
rs80357389
BRCA1
0.800 GeneticVariation UNIPROT Impact of BRCA1 BRCT domain missense substitutions on phosphopeptide recognition. 21473589

2011
dbSNP: rs41293455
rs41293455
BRCA1
0.800 GeneticVariation UNIPROT The emerging landscape of breast cancer susceptibility. 18163131

2008
dbSNP: rs41293455
rs41293455
BRCA1
0.800 GeneticVariation UNIPROT Pathogenicity of the BRCA1 missense variant M1775K is determined by the disruption of the BRCT phosphopeptide-binding pocket: a multi-modal approach. 18285836

2008
dbSNP: rs80357389
rs80357389
BRCA1
0.800 GeneticVariation UNIPROT The emerging landscape of breast cancer susceptibility. 18163131

2008
dbSNP: rs80357389
rs80357389
BRCA1
0.800 GeneticVariation UNIPROT Pathogenicity of the BRCA1 missense variant M1775K is determined by the disruption of the BRCT phosphopeptide-binding pocket: a multi-modal approach. 18285836

2008
dbSNP: rs41293455
rs41293455
BRCA1
0.800 GeneticVariation UNIPROT Risk assessment and genetic counseling for hereditary breast and ovarian cancer: recommendations of the National Society of Genetic Counselors. 17508274

2007
dbSNP: rs80357389
rs80357389
BRCA1
0.800 GeneticVariation UNIPROT Risk assessment and genetic counseling for hereditary breast and ovarian cancer: recommendations of the National Society of Genetic Counselors. 17508274

2007
dbSNP: rs41293455
rs41293455
BRCA1
0.800 GeneticVariation UNIPROT Novel germline mutations in the BRCA1 and BRCA2 genes in Indian breast and breast-ovarian cancer families. 14722926

2004
dbSNP: rs41293455
rs41293455
BRCA1
0.800 GeneticVariation UNIPROT Structure and mechanism of BRCA1 BRCT domain recognition of phosphorylated BACH1 with implications for cancer. 15133502

2004
dbSNP: rs41293455
rs41293455
BRCA1
0.800 GeneticVariation UNIPROT Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. 15604628

2004
dbSNP: rs80357389
rs80357389
BRCA1
0.800 GeneticVariation UNIPROT Structure and mechanism of BRCA1 BRCT domain recognition of phosphorylated BACH1 with implications for cancer. 15133502

2004
dbSNP: rs80357389
rs80357389
BRCA1
0.800 GeneticVariation UNIPROT Novel germline mutations in the BRCA1 and BRCA2 genes in Indian breast and breast-ovarian cancer families. 14722926

2004
dbSNP: rs80357389
rs80357389
BRCA1
0.800 GeneticVariation UNIPROT Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. 15604628

2004
dbSNP: rs41293455
rs41293455
BRCA1
0.800 GeneticVariation UNIPROT Twenty-three novel BRCA1 and BRCA2 sequence alterations in breast and/or ovarian cancer families in Southern Germany. 12938098

2003