DisGeNET - a database of gene-disease associations

Hereditary Breast and Ovarian Cancer Syndrome, C0677776

Variant: rs41293459 ×

Source: ALL

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:

rs41293459

BRCA1

0.700

CausalMutation

CLINVAR

Integrated evaluation of DNA sequence variants of unknown clinical significance: application to BRCA1 and BRCA2.

15290653

2004

dbSNP:

rs41293459

BRCA1

0.700

CausalMutation

CLINVAR

Genetic and histopathologic evaluation of BRCA1 and BRCA2 DNA sequence variants of unknown clinical significance.

16489001

2006

dbSNP:

rs41293459

BRCA1

0.700

CausalMutation

CLINVAR

The contribution of deleterious germline mutations in BRCA1, BRCA2 and the mismatch repair genes to ovarian cancer in the population.

24728189

2014

dbSNP:

rs41293459

BRCA1

0.700

CausalMutation

CLINVAR

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

15133503

2004

dbSNP:

rs41293459

BRCA1

0.700

CausalMutation

CLINVAR

Characterization of BRCA1 and BRCA2 variants found in a Norwegian breast or ovarian cancer cohort.

27495310

2017

dbSNP:

rs41293459

BRCA1

0.700

CausalMutation

CLINVAR

Tumor suppressor BRCA1 epigenetically controls oncogenic microRNA-155.

21946536

2011

dbSNP:

rs41293459

BRCA1

0.700

CausalMutation

CLINVAR

A DGGE system for comprehensive mutation screening of BRCA1 and BRCA2: application in a Dutch cancer clinic setting.

16683254

2006

dbSNP:

rs41293459

BRCA1

0.700

GeneticVariation

CLINVAR

BRCA1 R1699Q variant displaying ambiguous functional abrogation confers intermediate breast and ovarian cancer risk.

22889855

2012

dbSNP:

rs41293459

BRCA1

0.700

CausalMutation

CLINVAR

Functional analysis of BRCA1 C-terminal missense mutations identified in breast and ovarian cancer families.

11157798

2001

dbSNP:

rs41293459

BRCA1

0.700

CausalMutation

CLINVAR

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

23867111

2013

dbSNP:

rs41293459

BRCA1

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

BRCA1

0.700

GeneticVariation

CLINVAR

Identification of BRCA1 missense substitutions that confer partial functional activity: potential moderate risk variants?

18036263

2007

dbSNP:

rs41293459

BRCA1

0.700

CausalMutation

CLINVAR

Trans-activation-based risk assessment of BRCA1 BRCT variants with unknown clinical significance.

30458859

2018

dbSNP:

rs41293459

BRCA1

0.700

CausalMutation

CLINVAR

Identification of a Danish breast/ovarian cancer family double heterozygote for BRCA1 and BRCA2 mutations.

20455026

2010

dbSNP:

rs41293459

BRCA1

0.700

GeneticVariation

CLINVAR

Tumor suppressor BRCA1 epigenetically controls oncogenic microRNA-155.

21946536

2011

dbSNP:

rs41293459

BRCA1

0.700

CausalMutation

CLINVAR

BRCA2 Hypomorphic Missense Variants Confer Moderate Risks of Breast Cancer.

28283652

2017

dbSNP:

rs41293459

BRCA1

0.700

GeneticVariation

CLINVAR

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

14534301

2003

dbSNP:

rs41293459

BRCA1

0.700

CausalMutation

CLINVAR

Family history of breast and ovarian cancers and BRCA1 and BRCA2 mutations in a population-based series of early-onset breast cancer.

11504767

2001

dbSNP:

rs41293459

BRCA1

0.700

CausalMutation

CLINVAR

Impact of BRCA1 BRCT domain missense substitutions on phosphopeptide recognition.

21473589

2011

dbSNP:

rs41293459

BRCA1

0.700

CausalMutation

CLINVAR

A review of a multifactorial probability-based model for classification of BRCA1 and BRCA2 variants of uncertain significance (VUS).

21990134

2012

dbSNP:

rs41293459

BRCA1

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

BRCA1

0.700

CausalMutation

CLINVAR

Diagnostic strategy for analytical scanning of BRCA1 gene by fluorescence-assisted mismatch analysis using large, bifluorescently labeled amplicons.

11410501

2001

dbSNP:

rs41293459

BRCA1

0.700

CausalMutation

CLINVAR

BRCA1 R1699Q variant displaying ambiguous functional abrogation confers intermediate breast and ovarian cancer risk.

22889855

2012

dbSNP:

rs41293459

BRCA1

0.700

CausalMutation

CLINVAR

Inherited mutations in 17 breast cancer susceptibility genes among a large triple-negative breast cancer cohort unselected for family history of breast cancer.

25452441

2015

dbSNP:

rs41293459

BRCA1

0.700

CausalMutation

CLINVAR

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

20516115

2010