Have questions? Visit https://www.reddit.com/r/SNPedia

rs80359499

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
(-;CT) 6 BRCA2 variant considered pathogenic for breast cancer
(-;T) 6 BRCA2 variant considered pathogenic for breast cancer
(T;T) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome13
Position32339593
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359499
ClinGenrs80359499
ebirs80359499
HLIrs80359499
Exacrs80359499
Varsomers80359499
Maprs80359499
PheGenIrs80359499
hapmaprs80359499
1000 genomesrs80359499
hgdprs80359499
ensemblrs80359499
gopubmedrs80359499
geneviewrs80359499
scholarrs80359499
googlers80359499
pharmgkbrs80359499
gwascentralrs80359499
openSNPrs80359499
23andMers80359499
23andMe allrs80359499
SNP Nexus

SNPshotrs80359499
SNPdbers80359499
MSV3drs80359499
GWAS Ctlgrs80359499
Max Magnitude6
rs80359499, also known as 5466insT, c.5238_5239insT, c.5237_5238dupCT and p.Ser1746_Asn1747?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk Rs80359499(CT;CT) Rs80359499(T;T)
Alt Rs80359499(CT;CT) Rs80359499(T;T)
Reference Rs80359499(-;-)
Significance Pathogenic
Disease Breast-ovarian cancer Hereditary cancer-predisposing syndrome not provided Hereditary breast and ovarian cancer syndrome
Variation info
Gene BRCA2
CLNDBN Breast-ovarian cancer, familial 2 Hereditary cancer-predisposing syndrome not provided Hereditary breast and ovarian cancer syndrome
Reversed 0
HGVS NC_000013.10:g.32913729_32913730dupCT; NC_000013.10:g.32913730dupT
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000225637.1, RCV000031535.8, RCV000130726.3, RCV000212240.3, RCV000257922.3,