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rs80359620

From SNPedia

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


Make rs80359620(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32341033
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359620
dbSNP (classic)rs80359620
ClinGenrs80359620
ebirs80359620
HLIrs80359620
Exacrs80359620
Gnomadrs80359620
Varsomers80359620
LitVarrs80359620
Maprs80359620
PheGenIrs80359620
Biobankrs80359620
1000 genomesrs80359620
hgdprs80359620
ensemblrs80359620
geneviewrs80359620
scholarrs80359620
googlers80359620
pharmgkbrs80359620
gwascentralrs80359620
openSNPrs80359620
23andMers80359620
SNPshotrs80359620
SNPdbers80359620
MSV3drs80359620
GWAS Ctlgrs80359620
Max Magnitude6

rs80359620, also known as 6906delA, c.6678_6678delA and p.Glu2226=fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk rs80359620(-;-)
Alt rs80359620(-;-)
Reference Rs80359620(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.32915170delA
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000045015.2, RCV000113627.2,