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rs80359547

From SNPedia

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


Make rs80359547(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32340259
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359547
ebirs80359547
HLIrs80359547
Exacrs80359547
Varsomers80359547
Maprs80359547
PheGenIrs80359547
hapmaprs80359547
1000 genomesrs80359547
hgdprs80359547
ensemblrs80359547
gopubmedrs80359547
geneviewrs80359547
scholarrs80359547
googlers80359547
pharmgkbrs80359547
gwascentralrs80359547
openSNPrs80359547
23andMers80359547
23andMe allrs80359547
SNP Nexus

SNPshotrs80359547
SNPdbers80359547
MSV3drs80359547
GWAS Ctlgrs80359547
Max Magnitude6
rs80359547, also known as 6132del4, c.5904_5907delAGTC and p.Ser1968_Val1969?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359547(;)
Alt rs80359547(;)
Reference rs80359547(AGTC;AGTC)
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.32914396_32914399delAGTC
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000044790.2, RCV000113502.1,