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rs80359558

From SNPedia

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


Make rs80359558(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32340437
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359558
ebirs80359558
HLIrs80359558
Exacrs80359558
Varsomers80359558
Maprs80359558
PheGenIrs80359558
hapmaprs80359558
1000 genomesrs80359558
hgdprs80359558
ensemblrs80359558
gopubmedrs80359558
geneviewrs80359558
scholarrs80359558
googlers80359558
pharmgkbrs80359558
gwascentralrs80359558
openSNPrs80359558
23andMers80359558
23andMe allrs80359558
SNP Nexus

SNPshotrs80359558
SNPdbers80359558
MSV3drs80359558
GWAS Ctlgrs80359558
Max Magnitude6
rs80359558, also known as 6310del5, c.6082_6086delGAAGA and p.Glu2028_Glu2029?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359558(;)
Alt rs80359558(;)
Reference rs80359558(AAGAG;AAGAG)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer Hereditary cancer-predisposing syndrome not provided
Variation info
Gene BRCA2
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 2 Hereditary cancer-predisposing syndrome not provided
Reversed 0
HGVS NC_000013.10:g.32914574_32914578delGAAGA
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000044839.4, RCV000077368.3, RCV000131112.2, RCV000235143.1,