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rs80359766

From SNPedia

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


Make rs80359766(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32394898
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359766
dbSNP (classic)rs80359766
ClinGenrs80359766
ebirs80359766
HLIrs80359766
Exacrs80359766
Gnomadrs80359766
Varsomers80359766
LitVarrs80359766
Maprs80359766
PheGenIrs80359766
Biobankrs80359766
1000 genomesrs80359766
hgdprs80359766
ensemblrs80359766
geneviewrs80359766
scholarrs80359766
googlers80359766
pharmgkbrs80359766
gwascentralrs80359766
openSNPrs80359766
23andMers80359766
SNPshotrs80359766
SNPdbers80359766
MSV3drs80359766
GWAS Ctlgrs80359766
Max Magnitude6

rs80359766, also known as 9694delC, c.9466_9466delC and p.Gln3156Lysfs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk rs80359766(-;-)
Alt rs80359766(-;-)
Reference Rs80359766(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.32969035delC
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000045829.2, RCV000114114.2,