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rs80359623

From SNPedia

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


Make rs80359623(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32341112
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359623
ebirs80359623
HLIrs80359623
Exacrs80359623
Varsomers80359623
Maprs80359623
PheGenIrs80359623
hapmaprs80359623
1000 genomesrs80359623
hgdprs80359623
ensemblrs80359623
gopubmedrs80359623
geneviewrs80359623
scholarrs80359623
googlers80359623
pharmgkbrs80359623
gwascentralrs80359623
openSNPrs80359623
23andMers80359623
23andMe allrs80359623
SNP Nexus

SNPshotrs80359623
SNPdbers80359623
MSV3drs80359623
GWAS Ctlgrs80359623
Max Magnitude6
rs80359623, also known as 6985delCT, c.6757_6758delCT and p.Leu2253Phefs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359623(;)
Alt rs80359623(;)
Reference rs80359623(TC;TC)
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.32915249_32915250delCT
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000045041.3, RCV000113638.1, RCV000162933.1,