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rs80359762

From SNPedia

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


Make rs80359762(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32394858
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359762
dbSNP (classic)rs80359762
ClinGenrs80359762
ebirs80359762
HLIrs80359762
Exacrs80359762
Gnomadrs80359762
Varsomers80359762
LitVarrs80359762
Maprs80359762
PheGenIrs80359762
Biobankrs80359762
1000 genomesrs80359762
hgdprs80359762
ensemblrs80359762
geneviewrs80359762
scholarrs80359762
googlers80359762
pharmgkbrs80359762
gwascentralrs80359762
openSNPrs80359762
23andMers80359762
SNPshotrs80359762
SNPdbers80359762
MSV3drs80359762
GWAS Ctlgrs80359762
Merged fromRs886038193
Max Magnitude6

rs80359762, also known as c.9429_9430delTT, 9654delTT, c.9426_9427delTT and p.Asp3142_Phe3143=fs, and also as c.9430delT, are two variants in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk rs80359762(-;-)
Alt rs80359762(-;-)
Reference Rs80359762(TT;TT)
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.32968998_32968999delTT
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000045817.2, RCV000241070.2,