DisGeNET - a database of gene-disease associations

Hereditary Breast and Ovarian Cancer Syndrome, C0677776

Variant: rs80356959 ×

Source: CLINVAR ×

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs80356959

BRCA1

0.700

CausalMutation

CLINVAR

Dealing With BRCA1/2 Unclassified Variants in a Cancer Genetics Clinic: Does Cosegregation Analysis Help?

30254663

2018

dbSNP:

rs80356959

BRCA1

0.700

CausalMutation

CLINVAR

Spectrum of genetic variants of BRCA1 and BRCA2 in a German single center study.

28324225

2017

dbSNP:

rs80356959

BRCA1

0.700

CausalMutation

CLINVAR

Identification of a Novel BRCA1 Pathogenic Mutation in Korean Patients Following Reclassification of BRCA1 and BRCA2 Variants According to the ACMG Standards and Guidelines Using Relevant Ethnic Controls.

28111427

2017

dbSNP:

rs80356959

BRCA1

0.700

CausalMutation

CLINVAR

Evaluation of the Ion Torrent PGM sequencing workflow for the routine rapid detection of BRCA1 and BRCA2 germline mutations.

28263838

2017

dbSNP:

rs80356959

BRCA1

0.700

CausalMutation

CLINVAR

Prevalence of BRCA1/BRCA2 mutations in a Brazilian population sample at-risk for hereditary breast cancer and characterization of its genetic ancestry.

27741520

2016

dbSNP:

rs80356959

BRCA1

0.700

CausalMutation

CLINVAR

A high-throughput functional complementation assay for classification of BRCA1 missense variants.

23867111

2013

dbSNP:

rs80356959

BRCA1

0.700

GeneticVariation

CLINVAR

Comprehensive analysis of missense variations in the BRCT domain of BRCA1 by structural and functional assays.

20516115

2010

dbSNP:

rs80356959

BRCA1

0.700

GeneticVariation

CLINVAR

Toward classification of BRCA1 missense variants using a biophysical approach.

20378548

2010

dbSNP:

rs80356959

BRCA1

0.700

CausalMutation

CLINVAR

Toward classification of BRCA1 missense variants using a biophysical approach.

20378548

2010

dbSNP:

rs80356959

BRCA1

0.700

CausalMutation

CLINVAR

Comprehensive analysis of missense variations in the BRCT domain of BRCA1 by structural and functional assays.

20516115

2010

dbSNP:

rs80356959

BRCA1

0.700

CausalMutation

CLINVAR

Specific changes in the proteomic pattern produced by the BRCA1-Ser1841Asn missense mutation.

17005433

2007

dbSNP:

rs80356959

BRCA1

0.700

CausalMutation

CLINVAR

Functional impact of missense variants in BRCA1 predicted by supervised learning.

17305420

2007

dbSNP:

rs80356959

BRCA1

0.700

GeneticVariation

CLINVAR

Functional impact of missense variants in BRCA1 predicted by supervised learning.

17305420

2007

dbSNP:

rs80356959

BRCA1

0.700

GeneticVariation

CLINVAR

Insights into the molecular basis of human hereditary breast cancer from studies of the BRCA1 BRCT domain.

16528612

2006

dbSNP:

rs80356959

BRCA1

0.700

GeneticVariation

CLINVAR

Application of embryonic lethal or other obvious phenotypes to characterize the clinical significance of genetic variants found in trans with known deleterious mutations.

16267036

2005

dbSNP:

rs80356959

BRCA1

0.700

CausalMutation

CLINVAR

Classification of BRCA1 missense variants of unknown clinical significance.

15689452

2005

dbSNP:

rs80356959

BRCA1

0.700

CausalMutation

CLINVAR

Structure-based assessment of missense mutations in human BRCA1: implications for breast and ovarian cancer predisposition.

15172985

2004

dbSNP:

rs80356959

BRCA1

0.700

CausalMutation

CLINVAR

Analysis of missense variation in human BRCA1 in the context of interspecific sequence variation.

15235020

2004

dbSNP:

rs80356959

BRCA1

0.700

GeneticVariation

CLINVAR

Structural basis of phosphopeptide recognition by the BRCT domain of BRCA1.

15133503

2004

dbSNP:

rs80356959

BRCA1

0.700

GeneticVariation

CLINVAR

Structure-based assessment of missense mutations in human BRCA1: implications for breast and ovarian cancer predisposition.

15172985

2004

dbSNP:

rs80356959

BRCA1

0.700

GeneticVariation

CLINVAR

Analysis of missense variation in human BRCA1 in the context of interspecific sequence variation.

15235020

2004

dbSNP:

rs80356959

BRCA1

0.700

GeneticVariation

CLINVAR

Detection of protein folding defects caused by BRCA1-BRCT truncation and missense mutations.

14534301

2003

dbSNP:

rs80356959

BRCA1

0.700

CausalMutation

CLINVAR

Detection of protein folding defects caused by BRCA1-BRCT truncation and missense mutations.

14534301

2003

dbSNP:

rs80356959

BRCA1

0.700

CausalMutation

CLINVAR

Comprehensive analysis of 989 patients with breast or ovarian cancer provides BRCA1 and BRCA2 mutation profiles and frequencies for the German population.

11802209

2002

dbSNP:

rs80356959

BRCA1

0.700

CausalMutation

CLINVAR

Identification of seven new BRCA1 germline mutations in Italian breast and breast/ovarian cancer families.

8968102

1996