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rs80359489

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
(-;T) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs80359489(-;-)
Make rs80359489(T;T)
ReferenceGRCh38 38.1/141
Chromosome13
Position32339513
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359489
ebirs80359489
HLIrs80359489
Exacrs80359489
Varsomers80359489
Maprs80359489
PheGenIrs80359489
hapmaprs80359489
1000 genomesrs80359489
hgdprs80359489
ensemblrs80359489
gopubmedrs80359489
geneviewrs80359489
scholarrs80359489
googlers80359489
pharmgkbrs80359489
gwascentralrs80359489
openSNPrs80359489
23andMers80359489
23andMe allrs80359489
SNP Nexus

SNPshotrs80359489
SNPdbers80359489
MSV3drs80359489
GWAS Ctlgrs80359489
Max Magnitude6
rs80359489, also known as 5386insT, c.5158_5159insT and p.Ser1720?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359489(T;T)
Alt rs80359489(T;T)
Reference rs80359489(;)
Significance Pathogenic
Disease Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer Hereditary cancer-predisposing syndrome
Variation info
Gene BRCA2
CLNDBN Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 2 Hereditary cancer-predisposing syndrome
Reversed 0
HGVS NC_000013.10:g.32913650dupT
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000044569.4, RCV000077744.4, RCV000129981.2,