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rs80359721

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
(-;T) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs80359721(-;-)
Make rs80359721(T;T)
ReferenceGRCh38 38.1/142
Chromosome13
Position32371061
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359721
ebirs80359721
HLIrs80359721
Exacrs80359721
Varsomers80359721
Maprs80359721
PheGenIrs80359721
hapmaprs80359721
1000 genomesrs80359721
hgdprs80359721
ensemblrs80359721
gopubmedrs80359721
geneviewrs80359721
scholarrs80359721
googlers80359721
pharmgkbrs80359721
gwascentralrs80359721
openSNPrs80359721
23andMers80359721
23andMe allrs80359721
SNP Nexus

SNPshotrs80359721
SNPdbers80359721
MSV3drs80359721
GWAS Ctlgrs80359721
Max Magnitude6
rs80359721, also known as 8821insT, c.8593_8594insT and p.Leu2865?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359721(T;T)
Alt rs80359721(T;T)
Reference rs80359721(;)
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.32945199dupT
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000045570.3, RCV000077637.3, RCV000165308.1,