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rs80359562

From SNPedia

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


Make rs80359562(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32340509
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359562
dbSNP (classic)rs80359562
ClinGenrs80359562
ebirs80359562
HLIrs80359562
Exacrs80359562
Gnomadrs80359562
Varsomers80359562
LitVarrs80359562
Maprs80359562
PheGenIrs80359562
Biobankrs80359562
1000 genomesrs80359562
hgdprs80359562
ensemblrs80359562
geneviewrs80359562
scholarrs80359562
googlers80359562
pharmgkbrs80359562
gwascentralrs80359562
openSNPrs80359562
23andMers80359562
SNPshotrs80359562
SNPdbers80359562
MSV3drs80359562
GWAS Ctlgrs80359562
Max Magnitude6

rs80359562, also known as 6382delT, c.6154_6154delT and p.Ser2052Hisfs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk rs80359562(-;-)
Alt rs80359562(-;-)
Reference Rs80359562(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.32914646delT
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000044856.2, RCV000113537.2,