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rs80359670

From SNPedia

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


Make rs80359670(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32331004
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359670
ebirs80359670
HLIrs80359670
Exacrs80359670
Varsomers80359670
Maprs80359670
PheGenIrs80359670
hapmaprs80359670
1000 genomesrs80359670
hgdprs80359670
ensemblrs80359670
gopubmedrs80359670
geneviewrs80359670
scholarrs80359670
googlers80359670
pharmgkbrs80359670
gwascentralrs80359670
openSNPrs80359670
23andMers80359670
23andMe allrs80359670
SNP Nexus

SNPshotrs80359670
SNPdbers80359670
MSV3drs80359670
GWAS Ctlgrs80359670
Max Magnitude6
rs80359670, also known as 995delCA, c.767_768delCA and p.Thr256Lysfs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359670(;)
Alt rs80359670(;)
Reference rs80359670(AC;AC)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer Hereditary cancer-predisposing syndrome
Variation info
Gene BRCA2
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 2 Hereditary cancer-predisposing syndrome
Reversed 0
HGVS NC_000013.10:g.32905141_32905142delCA
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000045282.2, RCV000114159.1, RCV000131847.2,