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rs80359672

From SNPedia

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


Make rs80359672(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32357797
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359672
dbSNP (classic)rs80359672
ClinGenrs80359672
ebirs80359672
HLIrs80359672
Exacrs80359672
Gnomadrs80359672
Varsomers80359672
LitVarrs80359672
Maprs80359672
PheGenIrs80359672
Biobankrs80359672
1000 genomesrs80359672
hgdprs80359672
ensemblrs80359672
geneviewrs80359672
scholarrs80359672
googlers80359672
pharmgkbrs80359672
gwascentralrs80359672
openSNPrs80359672
23andMers80359672
SNPshotrs80359672
SNPdbers80359672
MSV3drs80359672
GWAS Ctlgrs80359672
Max Magnitude6

rs80359672, also known as 7901delAG, c.7673_7674delAG and p.Glu2558Valfs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk rs80359672(-;-)
Alt rs80359672(-;-)
Reference Rs80359672(AG;AG)
Significance Pathogenic
Disease Breast-ovarian cancer Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome Familial cancer of breast not provided
Variation info
Gene BRCA2
CLNDBN Breast-ovarian cancer, familial 2 Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome Familial cancer of breast not provided
Reversed 0
HGVS NC_000013.10:g.32931934_32931935delAG
CLNSRC Ambry Genetics ClinVar
CLNACC RCV000113805.5, RCV000131089.3, RCV000257916.3, RCV000461632.1, RCV000485798.1,