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rs80359389

From SNPedia

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


Make rs80359389(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32337909
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359389
ebirs80359389
HLIrs80359389
Exacrs80359389
Varsomers80359389
Maprs80359389
PheGenIrs80359389
hapmaprs80359389
1000 genomesrs80359389
hgdprs80359389
ensemblrs80359389
gopubmedrs80359389
geneviewrs80359389
scholarrs80359389
googlers80359389
pharmgkbrs80359389
gwascentralrs80359389
openSNPrs80359389
23andMers80359389
23andMe allrs80359389
SNP Nexus

SNPshotrs80359389
SNPdbers80359389
MSV3drs80359389
GWAS Ctlgrs80359389
Max Magnitude6
rs80359389, also known as 3782delCA, c.3554_3555delCA and p.Thr1185Serfs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359389(;)
Alt rs80359389(;)
Reference rs80359389(AC;AC)
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.32912046_32912047delCA
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000044220.2, RCV000113190.1,