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rs80359761

From SNPedia

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


Make rs80359761(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32394840
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359761
dbSNP (classic)rs80359761
ClinGenrs80359761
ebirs80359761
HLIrs80359761
Exacrs80359761
Gnomadrs80359761
Varsomers80359761
LitVarrs80359761
Maprs80359761
PheGenIrs80359761
Biobankrs80359761
1000 genomesrs80359761
hgdprs80359761
ensemblrs80359761
geneviewrs80359761
scholarrs80359761
googlers80359761
pharmgkbrs80359761
gwascentralrs80359761
openSNPrs80359761
23andMers80359761
SNPshotrs80359761
SNPdbers80359761
MSV3drs80359761
GWAS Ctlgrs80359761
Max Magnitude6

rs80359761, also known as 9636delT, c.9408_9408delT and p.Leu3136=fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk rs80359761(-;-)
Alt rs80359761(-;-)
Reference Rs80359761(T;T)
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.32968977delT
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000045814.2, RCV000114105.3,