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rs80359560

From SNPedia

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


Make rs80359560(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32326592
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359560
dbSNP (classic)rs80359560
ClinGenrs80359560
ebirs80359560
HLIrs80359560
Exacrs80359560
Gnomadrs80359560
Varsomers80359560
LitVarrs80359560
Maprs80359560
PheGenIrs80359560
Biobankrs80359560
1000 genomesrs80359560
hgdprs80359560
ensemblrs80359560
geneviewrs80359560
scholarrs80359560
googlers80359560
pharmgkbrs80359560
gwascentralrs80359560
openSNPrs80359560
23andMers80359560
SNPshotrs80359560
SNPdbers80359560
MSV3drs80359560
GWAS Ctlgrs80359560
Max Magnitude6

rs80359560, also known as 838delC, c.610_610delC and p.Leu204=fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk rs80359560(-;-)
Alt rs80359560(-;-)
Reference Rs80359560(C;C)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer Hereditary cancer-predisposing syndrome
Variation info
Gene BRCA2
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 2 Hereditary cancer-predisposing syndrome
Reversed 0
HGVS NC_000013.10:g.32900729delC
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000044848.2, RCV000113877.3, RCV000164920.1,