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rs80359759

From SNPedia

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


Make rs80359759(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32394833
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359759
dbSNP (classic)rs80359759
ClinGenrs80359759
ebirs80359759
HLIrs80359759
Exacrs80359759
Gnomadrs80359759
Varsomers80359759
LitVarrs80359759
Maprs80359759
PheGenIrs80359759
Biobankrs80359759
1000 genomesrs80359759
hgdprs80359759
ensemblrs80359759
geneviewrs80359759
scholarrs80359759
googlers80359759
pharmgkbrs80359759
gwascentralrs80359759
openSNPrs80359759
23andMers80359759
SNPshotrs80359759
SNPdbers80359759
MSV3drs80359759
GWAS Ctlgrs80359759
Max Magnitude6

rs80359759, also known as 9629delG, c.9401_9401delG and p.Gly3134Alafs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk rs80359759(-;-)
Alt rs80359759(-;-)
Reference Rs80359759(G;G)
Significance Pathogenic
Disease Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome Neoplasm of breast
Variation info
Gene BRCA2
CLNDBN Breast-ovarian cancer, familial 2 Hereditary breast and ovarian cancer syndrome Neoplasm of breast
Reversed 0
HGVS NC_000013.10:g.32968970delG
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000031822.6, RCV000045812.3, RCV000240781.1,