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rs80359692

From SNPedia

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


Make rs80359692(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32363260
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359692
dbSNP (classic)rs80359692
ClinGenrs80359692
ebirs80359692
HLIrs80359692
Exacrs80359692
Gnomadrs80359692
Varsomers80359692
LitVarrs80359692
Maprs80359692
PheGenIrs80359692
Biobankrs80359692
1000 genomesrs80359692
hgdprs80359692
ensemblrs80359692
geneviewrs80359692
scholarrs80359692
googlers80359692
pharmgkbrs80359692
gwascentralrs80359692
openSNPrs80359692
23andMers80359692
SNPshotrs80359692
SNPdbers80359692
MSV3drs80359692
GWAS Ctlgrs80359692
Max Magnitude6

rs80359692, also known as 8286delT, c.8058_8058delT and p.Leu2686=fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk rs80359692(-;-)
Alt rs80359692(-;-)
Reference Rs80359692(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.32937397delT
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000045406.2, RCV000113862.3,