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rs80359340

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;GACA) 6 BRCA2 variant considered pathogenic for breast cancer
(CAGA;CAGA) 0 common in clinvar
(GACA;GACA) 0 common in clinvar


Make rs80359340(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32337008
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359340
dbSNP (classic)rs80359340
ClinGenrs80359340
ebirs80359340
HLIrs80359340
Exacrs80359340
Gnomadrs80359340
Varsomers80359340
LitVarrs80359340
Maprs80359340
PheGenIrs80359340
Biobankrs80359340
1000 genomesrs80359340
hgdprs80359340
ensemblrs80359340
geneviewrs80359340
scholarrs80359340
googlers80359340
pharmgkbrs80359340
gwascentralrs80359340
openSNPrs80359340
23andMers80359340
SNPshotrs80359340
SNPdbers80359340
MSV3drs80359340
GWAS Ctlgrs80359340
Merged fromRs760792406
Max Magnitude6

rs80359340, also known as 2881del4, c.2653_2656delGACA and p.Asp885_Asn886?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk rs80359340(-;-) Rs80359340(CAGA;CAGA)
Alt rs80359340(-;-) Rs80359340(CAGA;CAGA)
Reference Rs80359340(GACA;GACA)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer Hereditary cancer-predisposing syndrome not provided
Variation info
Gene BRCA2
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 2 Hereditary cancer-predisposing syndrome not provided
Reversed 0
HGVS NC_000013.10:g.32911145_32911148delGACA
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000044033.2, RCV000113073.3, RCV000162913.2, RCV000485965.1,