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rs80359718

From SNPedia

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


Make rs80359718(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32371043
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359718
ebirs80359718
HLIrs80359718
Exacrs80359718
Varsomers80359718
Maprs80359718
PheGenIrs80359718
hapmaprs80359718
1000 genomesrs80359718
hgdprs80359718
ensemblrs80359718
gopubmedrs80359718
geneviewrs80359718
scholarrs80359718
googlers80359718
pharmgkbrs80359718
gwascentralrs80359718
openSNPrs80359718
23andMers80359718
23andMe allrs80359718
SNP Nexus

SNPshotrs80359718
SNPdbers80359718
MSV3drs80359718
GWAS Ctlgrs80359718
Max Magnitude6
rs80359718, also known as 8803delC, c.8575_8575delC and p.Gln2859Lysfs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359718(;)
Alt rs80359718(;)
Reference rs80359718(C;C)
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.32945180delC
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000031752.6, RCV000045564.4, RCV000130105.2, RCV000218043.1,