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rs80359454

From SNPedia

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


Make rs80359454(-;-)
ReferenceGRCh38 38.1/142
Chromosome13
Position32338832
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359454
ebirs80359454
HLIrs80359454
Exacrs80359454
Varsomers80359454
Maprs80359454
PheGenIrs80359454
hapmaprs80359454
1000 genomesrs80359454
hgdprs80359454
ensemblrs80359454
gopubmedrs80359454
geneviewrs80359454
scholarrs80359454
googlers80359454
pharmgkbrs80359454
gwascentralrs80359454
openSNPrs80359454
23andMers80359454
23andMe allrs80359454
SNP Nexus

SNPshotrs80359454
SNPdbers80359454
MSV3drs80359454
GWAS Ctlgrs80359454
Max Magnitude6
rs80359454, also known as 4705del4, c.4477_4480delGAAA and p.Glu1493_Ser1494?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359454(;)
Alt rs80359454(;)
Reference rs80359454(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,