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rs80359297

From SNPedia

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


Make rs80359297(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32333132
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359297
dbSNP (classic)rs80359297
ClinGenrs80359297
ebirs80359297
HLIrs80359297
Exacrs80359297
Gnomadrs80359297
Varsomers80359297
LitVarrs80359297
Maprs80359297
PheGenIrs80359297
Biobankrs80359297
1000 genomesrs80359297
hgdprs80359297
ensemblrs80359297
geneviewrs80359297
scholarrs80359297
googlers80359297
pharmgkbrs80359297
gwascentralrs80359297
openSNPrs80359297
23andMers80359297
SNPshotrs80359297
SNPdbers80359297
MSV3drs80359297
GWAS Ctlgrs80359297
Max Magnitude6

rs80359297, also known as 1882delT, c.1654_1654delT and p.Ser552Profs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk rs80359297(-;-)
Alt rs80359297(-;-)
Reference Rs80359297(T;T)
Significance Pathogenic
Disease Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer Hereditary cancer-predisposing syndrome
Variation info
Gene BRCA2
CLNDBN Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 2 Hereditary cancer-predisposing syndrome
Reversed 0
HGVS NC_000013.10:g.32907269delT
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000043855.3, RCV000077260.5, RCV000130097.3,