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rs80359268

From SNPedia

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


Make rs80359268(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32332703
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359268
dbSNP (classic)rs80359268
ClinGenrs80359268
ebirs80359268
HLIrs80359268
Exacrs80359268
Gnomadrs80359268
Varsomers80359268
LitVarrs80359268
Maprs80359268
PheGenIrs80359268
Biobankrs80359268
1000 genomesrs80359268
hgdprs80359268
ensemblrs80359268
geneviewrs80359268
scholarrs80359268
googlers80359268
pharmgkbrs80359268
gwascentralrs80359268
openSNPrs80359268
23andMers80359268
SNPshotrs80359268
SNPdbers80359268
MSV3drs80359268
GWAS Ctlgrs80359268
Max Magnitude6

rs80359268, also known as 1453delG, c.1225_1225delG and p.Glu409Argfs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk rs80359268(-;-)
Alt rs80359268(-;-)
Reference Rs80359268(G;G)
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.32906840delG
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000043762.2, RCV000112896.4,