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rs80359486

From SNPedia

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


Make rs80359486(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32339486
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359486
ebirs80359486
HLIrs80359486
Exacrs80359486
Varsomers80359486
Maprs80359486
PheGenIrs80359486
hapmaprs80359486
1000 genomesrs80359486
hgdprs80359486
ensemblrs80359486
gopubmedrs80359486
geneviewrs80359486
scholarrs80359486
googlers80359486
pharmgkbrs80359486
gwascentralrs80359486
openSNPrs80359486
23andMers80359486
23andMe allrs80359486
SNP Nexus

SNPshotrs80359486
SNPdbers80359486
MSV3drs80359486
GWAS Ctlgrs80359486
Max Magnitude6
rs80359486, also known as 5359del4, c.5131_5134delGTAG and p.Val1711_Gly1712?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359486(;)
Alt rs80359486(;)
Reference rs80359486(GTAG;GTAG)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer
Variation info
Gene BRCA2
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 2
Reversed 0
HGVS NC_000013.10:g.32913623_32913626delGTAG
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000044564.2, RCV000113385.1,