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rs80359677

From SNPedia

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


Make rs80359677(-;-)
ReferenceGRCh38 38.1/142
Chromosome13
Position32331012
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359677
ebirs80359677
HLIrs80359677
Exacrs80359677
Varsomers80359677
Maprs80359677
PheGenIrs80359677
hapmaprs80359677
1000 genomesrs80359677
hgdprs80359677
ensemblrs80359677
gopubmedrs80359677
geneviewrs80359677
scholarrs80359677
googlers80359677
pharmgkbrs80359677
gwascentralrs80359677
openSNPrs80359677
23andMers80359677
23andMe allrs80359677
SNP Nexus

SNPshotrs80359677
SNPdbers80359677
MSV3drs80359677
GWAS Ctlgrs80359677
Max Magnitude6
rs80359677, also known as 1003delAG, c.775_776delAG and p.Arg259=fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359677(;)
Alt rs80359677(;)
Reference rs80359677(AG;AG)
Significance Pathogenic
Disease Breast-ovarian cancer not provided Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome
Variation info
Gene BRCA2
CLNDBN Breast-ovarian cancer, familial 2 not provided Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome
Reversed 0
HGVS NC_000013.10:g.32905152_32905153delGA
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000031701.5, RCV000045311.5, RCV000131854.2, RCV000203632.2,