DisGeNET - a database of gene-disease associations

Hereditary Breast and Ovarian Cancer Syndrome, C0677776

Variant: rs80359031 ×

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:

rs80359031

BRCA2

0.700

GeneticVariation

CLINVAR

Functional classification of DNA variants by hybrid minigenes: Identification of 30 spliceogenic variants of BRCA2 exons 17 and 18.

28339459

2017

dbSNP:

rs80359031

BRCA2

0.700

CausalMutation

CLINVAR

Functional classification of DNA variants by hybrid minigenes: Identification of 30 spliceogenic variants of BRCA2 exons 17 and 18.

28339459

2017

dbSNP:

rs80359031

BRCA2

0.700

GeneticVariation

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:

rs80359031

BRCA2

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:

rs80359031

BRCA2

0.700

GeneticVariation

CLINVAR

Comparison of mRNA splicing assay protocols across multiple laboratories: recommendations for best practice in standardized clinical testing.

24212087

2014

dbSNP:

rs80359031

BRCA2

0.700

CausalMutation

CLINVAR

Mosaic PPM1D mutations are associated with predisposition to breast and ovarian cancer.

23242139

2013

dbSNP:

rs80359031

BRCA2

0.700

CausalMutation

CLINVAR

Evaluation of a 5-tier scheme proposed for classification of sequence variants using bioinformatic and splicing assay data: inter-reviewer variability and promotion of minimum reporting guidelines.

23893897

2013

dbSNP:

rs80359031

BRCA2

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:

rs80359031

BRCA2

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:

rs80359031

BRCA2

0.700

CausalMutation

CLINVAR

Assessment of rare BRCA1 and BRCA2 variants of unknown significance using hierarchical modeling.

21520273

2011

dbSNP:

rs80359031

BRCA2

0.700

GeneticVariation

CLINVAR

Assessment of rare BRCA1 and BRCA2 variants of unknown significance using hierarchical modeling.

21520273

2011

dbSNP:

rs80359031

BRCA2

0.700

CausalMutation

CLINVAR

Clinical impact of unclassified variants of the BRCA1 and BRCA2 genes.

21965345

2011

dbSNP:

rs80359031

BRCA2

0.700

GeneticVariation

CLINVAR

Clinical impact of unclassified variants of the BRCA1 and BRCA2 genes.

21965345

2011

dbSNP:

rs80359031

BRCA2

0.700

GeneticVariation

CLINVAR

A high-throughput protocol for mutation scanning of the BRCA1 and BRCA2 genes.

21702907

2011

dbSNP:

rs80359031

BRCA2

0.700

CausalMutation

CLINVAR

Characterization of BRCA1 and BRCA2 deleterious mutations and variants of unknown clinical significance in unilateral and bilateral breast cancer: the WECARE study.

20104584

2010

dbSNP:

rs80359031

BRCA2

0.700

GeneticVariation

CLINVAR

Characterization of BRCA1 and BRCA2 deleterious mutations and variants of unknown clinical significance in unilateral and bilateral breast cancer: the WECARE study.

20104584

2010

dbSNP:

rs80359031

BRCA2

0.700

GeneticVariation

CLINVAR

A high proportion of DNA variants of BRCA1 and BRCA2 is associated with aberrant splicing in breast/ovarian cancer patients.

20215541

2010

dbSNP:

rs80359031

BRCA2

0.700

CausalMutation

CLINVAR

A high proportion of DNA variants of BRCA1 and BRCA2 is associated with aberrant splicing in breast/ovarian cancer patients.

20215541

2010

dbSNP:

rs80359031

BRCA2

0.700

CausalMutation

CLINVAR

Detection of splicing aberrations caused by BRCA1 and BRCA2 sequence variants encoding missense substitutions: implications for prediction of pathogenicity.

20513136

2010

dbSNP:

rs80359031

BRCA2

0.700

GeneticVariation

CLINVAR

Detection of splicing aberrations caused by BRCA1 and BRCA2 sequence variants encoding missense substitutions: implications for prediction of pathogenicity.

20513136

2010

dbSNP:

rs80359031

BRCA2

0.700

CausalMutation

CLINVAR

Classifying Variants of Undetermined Significance in BRCA2 with protein likelihood ratios.

19043619

2008

dbSNP:

rs80359031

BRCA2

0.700

GeneticVariation

CLINVAR

Functional assays for classification of BRCA2 variants of uncertain significance.

18451181

2008

dbSNP:

rs80359031

BRCA2

0.700

CausalMutation

CLINVAR

Functional assays for classification of BRCA2 variants of uncertain significance.

18451181

2008

dbSNP:

rs80359031

BRCA2

0.700

GeneticVariation

CLINVAR

Mouse embryonic stem cell-based functional assay to evaluate mutations in BRCA2.

18607349

2008

dbSNP:

rs80359031

BRCA2

0.700

CausalMutation

CLINVAR

Mouse embryonic stem cell-based functional assay to evaluate mutations in BRCA2.

18607349

2008