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rs80359665

From SNPedia

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


Make rs80359665(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32356585
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359665
dbSNP (classic)rs80359665
ClinGenrs80359665
ebirs80359665
HLIrs80359665
Exacrs80359665
Gnomadrs80359665
Varsomers80359665
LitVarrs80359665
Maprs80359665
PheGenIrs80359665
Biobankrs80359665
1000 genomesrs80359665
hgdprs80359665
ensemblrs80359665
geneviewrs80359665
scholarrs80359665
googlers80359665
pharmgkbrs80359665
gwascentralrs80359665
openSNPrs80359665
23andMers80359665
SNPshotrs80359665
SNPdbers80359665
MSV3drs80359665
GWAS Ctlgrs80359665
Max Magnitude6

rs80359665, also known as 7821delT, c.7593_7593delT and p.Val2531=fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk rs80359665(-;-)
Alt rs80359665(-;-)
Reference Rs80359665(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.32930722delT
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000045254.2, RCV000113778.2,