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rs80359652

From SNPedia

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


Make rs80359652(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32356435
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359652
dbSNP (classic)rs80359652
ClinGenrs80359652
ebirs80359652
HLIrs80359652
Exacrs80359652
Gnomadrs80359652
Varsomers80359652
LitVarrs80359652
Maprs80359652
PheGenIrs80359652
Biobankrs80359652
1000 genomesrs80359652
hgdprs80359652
ensemblrs80359652
geneviewrs80359652
scholarrs80359652
googlers80359652
pharmgkbrs80359652
gwascentralrs80359652
openSNPrs80359652
23andMers80359652
SNPshotrs80359652
SNPdbers80359652
MSV3drs80359652
GWAS Ctlgrs80359652
Max Magnitude6

rs80359652, also known as 7671delT, c.7443_7443delT and p.Ile2481=fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk rs80359652(-;-)
Alt rs80359652(-;-)
Reference Rs80359652(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.32930572delT
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000045218.2, RCV000113761.3,