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rs80359614

From SNPedia

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


Make rs80359614(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32340998
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359614
dbSNP (classic)rs80359614
ClinGenrs80359614
ebirs80359614
HLIrs80359614
Exacrs80359614
Gnomadrs80359614
Varsomers80359614
LitVarrs80359614
Maprs80359614
PheGenIrs80359614
Biobankrs80359614
1000 genomesrs80359614
hgdprs80359614
ensemblrs80359614
geneviewrs80359614
scholarrs80359614
googlers80359614
pharmgkbrs80359614
gwascentralrs80359614
openSNPrs80359614
23andMers80359614
SNPshotrs80359614
SNPdbers80359614
MSV3drs80359614
GWAS Ctlgrs80359614
Merged fromRs749364793
Max Magnitude6

rs80359614, also known as 6871delT, c.6643_6643delT and p.Tyr2215Thrfs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk rs80359614(-;-)
Alt rs80359614(-;-)
Reference Rs80359614(T;T)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer not provided
Variation info
Gene BRCA2
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 2 not provided
Reversed 0
HGVS NC_000013.10:g.32915135delT
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000045005.2, RCV000077380.8, RCV000486817.1,