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rs80359263

From SNPedia

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


Make rs80359263(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32332606
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359263
dbSNP (classic)rs80359263
ClinGenrs80359263
ebirs80359263
HLIrs80359263
Exacrs80359263
Gnomadrs80359263
Varsomers80359263
LitVarrs80359263
Maprs80359263
PheGenIrs80359263
Biobankrs80359263
1000 genomesrs80359263
hgdprs80359263
ensemblrs80359263
geneviewrs80359263
scholarrs80359263
googlers80359263
pharmgkbrs80359263
gwascentralrs80359263
openSNPrs80359263
23andMers80359263
SNPshotrs80359263
SNPdbers80359263
MSV3drs80359263
GWAS Ctlgrs80359263
Max Magnitude6

rs80359263, also known as 1356delT, c.1128_1128delT and p.Phe376Leufs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk rs80359263(-;-)
Alt rs80359263(-;-)
Reference Rs80359263(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.32906743delT
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000043743.2, RCV000112883.3,