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rs80359455

From SNPedia

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


Make rs80359455(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32338833
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359455
ebirs80359455
HLIrs80359455
Exacrs80359455
Varsomers80359455
Maprs80359455
PheGenIrs80359455
hapmaprs80359455
1000 genomesrs80359455
hgdprs80359455
ensemblrs80359455
gopubmedrs80359455
geneviewrs80359455
scholarrs80359455
googlers80359455
pharmgkbrs80359455
gwascentralrs80359455
openSNPrs80359455
23andMers80359455
23andMe allrs80359455
SNP Nexus

SNPshotrs80359455
SNPdbers80359455
MSV3drs80359455
GWAS Ctlgrs80359455
Max Magnitude6
rs80359455, also known as 4706delAAAG, c.4478_4481delAAAG and p.Glu1493_Ser1494?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359455(;)
Alt rs80359455(;)
Reference rs80359455(GAAA;GAAA)
Significance Pathogenic
Disease not provided Breast-ovarian cancer Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome
Variation info
Gene BRCA2
CLNDBN not provided Breast-ovarian cancer, familial 2 Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome
Reversed 0
HGVS NC_000013.10:g.32912970_32912973delAAAG
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000044421.5, RCV000077327.7, RCV000131081.2, RCV000195401.2,