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rs80359332

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
(-;A) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs80359332(A;A)
ReferenceGRCh38 38.1/142
Chromosome13
Position32336881
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359332
dbSNP (classic)rs80359332
ClinGenrs80359332
ebirs80359332
HLIrs80359332
Exacrs80359332
Gnomadrs80359332
Varsomers80359332
LitVarrs80359332
Maprs80359332
PheGenIrs80359332
Biobankrs80359332
1000 genomesrs80359332
hgdprs80359332
ensemblrs80359332
geneviewrs80359332
scholarrs80359332
googlers80359332
pharmgkbrs80359332
gwascentralrs80359332
openSNPrs80359332
23andMers80359332
SNPshotrs80359332
SNPdbers80359332
MSV3drs80359332
GWAS Ctlgrs80359332
Max Magnitude6

rs80359332, also known as 2754insA, c.2526_2527insA and p.Val842_Ala843?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk rs80359332(A;A)
Alt rs80359332(A;A)
Reference Rs80359332(-;-)
Significance Pathogenic
Disease Breast-ovarian cancer
Variation info
Gene BRCA2
CLNDBN Breast-ovarian cancer, familial 2
Reversed 0
HGVS NC_000013.10:g.32911018dupA
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000113054.3,