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rs80359556

From SNPedia

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


Make rs80359556(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32340426
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359556
dbSNP (classic)rs80359556
ClinGenrs80359556
ebirs80359556
HLIrs80359556
Exacrs80359556
Gnomadrs80359556
Varsomers80359556
LitVarrs80359556
Maprs80359556
PheGenIrs80359556
Biobankrs80359556
1000 genomesrs80359556
hgdprs80359556
ensemblrs80359556
geneviewrs80359556
scholarrs80359556
googlers80359556
pharmgkbrs80359556
gwascentralrs80359556
openSNPrs80359556
23andMers80359556
SNPshotrs80359556
SNPdbers80359556
MSV3drs80359556
GWAS Ctlgrs80359556
Max Magnitude6

rs80359556, also known as 6299delA, c.6071_6071delA and p.Gln2024Argfs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk rs80359556(-;-)
Alt rs80359556(-;-)
Reference Rs80359556(A;A)
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.32914563delA
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000044834.2, RCV000113526.2,