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rs80359441

From SNPedia

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


Make rs80359441(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32338669
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359441
dbSNP (classic)rs80359441
ClinGenrs80359441
ebirs80359441
HLIrs80359441
Exacrs80359441
Gnomadrs80359441
Varsomers80359441
LitVarrs80359441
Maprs80359441
PheGenIrs80359441
Biobankrs80359441
1000 genomesrs80359441
hgdprs80359441
ensemblrs80359441
geneviewrs80359441
scholarrs80359441
googlers80359441
pharmgkbrs80359441
gwascentralrs80359441
openSNPrs80359441
23andMers80359441
SNPshotrs80359441
SNPdbers80359441
MSV3drs80359441
GWAS Ctlgrs80359441
Max Magnitude6

rs80359441, also known as 4542delC, c.4314_4314delC and p.Val1438=fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk rs80359441(-;-)
Alt rs80359441(-;-)
Reference Rs80359441(C;C)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer
Variation info
Gene BRCA2
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 2
Reversed 0
HGVS NC_000013.10:g.32912806delC
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000044390.2, RCV000113291.3,