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rs80359530

From SNPedia

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


Make rs80359530(-;-)
ReferenceGRCh38 38.1/142
Chromosome13
Position32340073
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359530
ebirs80359530
HLIrs80359530
Exacrs80359530
Varsomers80359530
Maprs80359530
PheGenIrs80359530
hapmaprs80359530
1000 genomesrs80359530
hgdprs80359530
ensemblrs80359530
gopubmedrs80359530
geneviewrs80359530
scholarrs80359530
googlers80359530
pharmgkbrs80359530
gwascentralrs80359530
openSNPrs80359530
23andMers80359530
23andMe allrs80359530
SNP Nexus

SNPshotrs80359530
SNPdbers80359530
MSV3drs80359530
GWAS Ctlgrs80359530
Max Magnitude6
rs80359530, also known as 5946delCT, c.5718_5719delCT and p.Asn1906_Ser1907=fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359530(;)
Alt rs80359530(;)
Reference rs80359530(CT;CT)
Significance Pathogenic
Disease Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome not provided
Variation info
Gene BRCA2
CLNDBN Breast-ovarian cancer, familial 2 Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome not provided
Reversed 0
HGVS NC_000013.10:g.32914214_32914215delCT
CLNSRC Breast Cancer Information Core (BRCA2) OMIM Allelic Variant
CLNACC RCV000009905.12, RCV000044728.7, RCV000131120.2, RCV000160297.3,