DisGeNET - a database of gene-disease associations

Source: ALL

Disease: Neoplastic Syndromes, Hereditary ×

Variant: rs80357276 ×

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

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs80357276

BRCA1

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.700

GeneticVariation

CLINVAR

Massively Parallel Functional Analysis of BRCA1 RING Domain Variants.

25823446

2015

dbSNP:

rs80357276

BRCA1

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.700

GeneticVariation

CLINVAR

Massively Parallel Functional Analysis of BRCA1 RING Domain Variants.

25823446

2015

dbSNP:

rs80357276

BRCA1

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.700

GeneticVariation

CLINVAR

Multifactorial likelihood assessment of BRCA1 and BRCA2 missense variants confirms that BRCA1:c.122A>G(p.His41Arg) is a pathogenic mutation.

24489791

2014

dbSNP:

rs80357276

BRCA1

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.700

GeneticVariation

CLINVAR

Analysis of BRCA1 variants in double-strand break repair by homologous recombination and single-strand annealing.

23161852

2013

dbSNP:

rs80357276

BRCA1

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.700

GeneticVariation

CLINVAR

Functional differences among BRCA1 missense mutations in the control of centrosome duplication.

21725363

2012

dbSNP:

rs80357276

BRCA1

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.700

GeneticVariation

CLINVAR

The BRCA1 ubiquitin ligase and homologous recombination repair.

21570976

2011

dbSNP:

rs80357276

BRCA1

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.700

GeneticVariation

CLINVAR

Interlaboratory diagnostic validation of conformation-sensitive capillary electrophoresis for mutation scanning.

20167696

2010

dbSNP:

rs80357276

BRCA1

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.700

GeneticVariation

CLINVAR

Identification of breast tumor mutations in BRCA1 that abolish its function in homologous DNA recombination.

20103620

2010

dbSNP:

rs80357276

BRCA1

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.700

GeneticVariation

CLINVAR

Re-engineering a split-GFP reassembly screen to examine RING-domain interactions between BARD1 and BRCA1 mutants observed in cancer patients.

18493658

2008

dbSNP:

rs80357276

BRCA1

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.700

GeneticVariation

CLINVAR

Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results.

18951446

2008

dbSNP:

rs80357276

BRCA1

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.700

GeneticVariation

CLINVAR

Genetic analysis of BRCA1 ubiquitin ligase activity and its relationship to breast cancer susceptibility.

16403807

2006

dbSNP:

rs80357276

BRCA1

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.700

GeneticVariation

CLINVAR

Genetic analysis of BRCA1 ubiquitin ligase activity and its relationship to breast cancer susceptibility.

16403807

2006

dbSNP:

rs80357276

BRCA1

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

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:

rs80357276

BRCA1

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.700

GeneticVariation

CLINVAR

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

15235020

2004

dbSNP:

rs80357276

BRCA1

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.700

GeneticVariation

CLINVAR

Identification and evaluation of 55 genetic variations in the BRCA1 and the BRCA2 genes of patients from 50 Japanese breast cancer families.

15168169

2004

dbSNP:

rs80357276

BRCA1

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.700

GeneticVariation

CLINVAR

Binding and recognition in the assembly of an active BRCA1/BARD1 ubiquitin-ligase complex.

12732733

2003

dbSNP:

rs80357276

BRCA1

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.700

GeneticVariation

CLINVAR

Structure of a BRCA1-BARD1 heterodimeric RING-RING complex.

11573085

2001