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rs80359531

From SNPedia

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


Make rs80359531(-;-)
ReferenceGRCh38 38.1/142
Chromosome13
Position32340077
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359531
ebirs80359531
HLIrs80359531
Exacrs80359531
Varsomers80359531
Maprs80359531
PheGenIrs80359531
hapmaprs80359531
1000 genomesrs80359531
hgdprs80359531
ensemblrs80359531
gopubmedrs80359531
geneviewrs80359531
scholarrs80359531
googlers80359531
pharmgkbrs80359531
gwascentralrs80359531
openSNPrs80359531
23andMers80359531
23andMe allrs80359531
SNP Nexus

SNPshotrs80359531
SNPdbers80359531
MSV3drs80359531
GWAS Ctlgrs80359531
Max Magnitude6
rs80359531, also known as 5950delCT, c.5722_5723delCT and p.Leu1908Argfs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359531(;)
Alt rs80359531(;)
Reference rs80359531(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,