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rs80359457

From SNPedia

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


Make rs80359457(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32338906
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359457
ebirs80359457
HLIrs80359457
Exacrs80359457
Varsomers80359457
Maprs80359457
PheGenIrs80359457
hapmaprs80359457
1000 genomesrs80359457
hgdprs80359457
ensemblrs80359457
gopubmedrs80359457
geneviewrs80359457
scholarrs80359457
googlers80359457
pharmgkbrs80359457
gwascentralrs80359457
openSNPrs80359457
23andMers80359457
23andMe allrs80359457
SNP Nexus

SNPshotrs80359457
SNPdbers80359457
MSV3drs80359457
GWAS Ctlgrs80359457
Max Magnitude6
rs80359457, also known as 4779del4, c.4551_4554delAGAA and p.Lys1517_Glu1518?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359457(;)
Alt rs80359457(;)
Reference rs80359457(AAAG;AAAG)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer Hereditary cancer-predisposing syndrome
Variation info
Gene BRCA2
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 2 Hereditary cancer-predisposing syndrome
Reversed 0
HGVS NC_000013.10:g.32913043_32913046delAGAA
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000044437.3, RCV000077328.3, RCV000131070.2,