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rs80359610

From SNPedia

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


Make rs80359610(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32340981
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359610
dbSNP (classic)rs80359610
ClinGenrs80359610
ebirs80359610
HLIrs80359610
Exacrs80359610
Gnomadrs80359610
Varsomers80359610
LitVarrs80359610
Maprs80359610
PheGenIrs80359610
Biobankrs80359610
1000 genomesrs80359610
hgdprs80359610
ensemblrs80359610
geneviewrs80359610
scholarrs80359610
googlers80359610
pharmgkbrs80359610
gwascentralrs80359610
openSNPrs80359610
23andMers80359610
SNPshotrs80359610
SNPdbers80359610
MSV3drs80359610
GWAS Ctlgrs80359610
Max Magnitude6

rs80359610, also known as 6854delTA, c.6626_6627delTA and p.Ile2209Argfs, as well as c.6626_6627dupTA, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk rs80359610(-;-)
Alt rs80359610(-;-)
Reference Rs80359610(AT;AT)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer
Variation info
Gene BRCA2
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 2
Reversed 0
HGVS NC_000013.10:g.32915118_32915119delTA
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000044994.2, RCV000113614.3,