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rs80359390

From SNPedia

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


Make rs80359390(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32337925
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359390
dbSNP (classic)rs80359390
ClinGenrs80359390
ebirs80359390
HLIrs80359390
Exacrs80359390
Gnomadrs80359390
Varsomers80359390
LitVarrs80359390
Maprs80359390
PheGenIrs80359390
Biobankrs80359390
1000 genomesrs80359390
hgdprs80359390
ensemblrs80359390
geneviewrs80359390
scholarrs80359390
googlers80359390
pharmgkbrs80359390
gwascentralrs80359390
openSNPrs80359390
23andMers80359390
SNPshotrs80359390
SNPdbers80359390
MSV3drs80359390
GWAS Ctlgrs80359390
Max Magnitude6

rs80359390, also known as 3798delG, c.3570_3570delG and p.Arg1190=fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk rs80359390(-;-)
Alt rs80359390(-;-)
Reference Rs80359390(G;G)
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.32912062delG
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000044225.2, RCV000113192.3,