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rs80359662

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 rs80359662(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32330993
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359662
ebirs80359662
HLIrs80359662
Exacrs80359662
Varsomers80359662
Maprs80359662
PheGenIrs80359662
hapmaprs80359662
1000 genomesrs80359662
hgdprs80359662
ensemblrs80359662
gopubmedrs80359662
geneviewrs80359662
scholarrs80359662
googlers80359662
pharmgkbrs80359662
gwascentralrs80359662
openSNPrs80359662
23andMers80359662
23andMe allrs80359662
SNP Nexus

SNPshotrs80359662
SNPdbers80359662
MSV3drs80359662
GWAS Ctlgrs80359662
Max Magnitude6
rs80359662, also known as 984delCA, c.756_757delCA and p.Asp252_Ser253GluTerfs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359662(;)
Alt rs80359662(;)
Reference rs80359662(AC;AC)
Significance Pathogenic
Disease Breast-ovarian cancer Familial cancer of breast Hereditary cancer-predisposing syndrome
Variation info
Gene BRCA2
CLNDBN Breast-ovarian cancer, familial 2 Familial cancer of breast Hereditary cancer-predisposing syndrome
Reversed 0
HGVS NC_000013.10:g.32905130_32905131delCA
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000031688.4, RCV000045251.2, RCV000131845.2,