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rs80359330

From SNPedia

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


Make rs80359330(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32336801
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359330
dbSNP (classic)rs80359330
ClinGenrs80359330
ebirs80359330
HLIrs80359330
Exacrs80359330
Gnomadrs80359330
Varsomers80359330
LitVarrs80359330
Maprs80359330
PheGenIrs80359330
Biobankrs80359330
1000 genomesrs80359330
hgdprs80359330
ensemblrs80359330
geneviewrs80359330
scholarrs80359330
googlers80359330
pharmgkbrs80359330
gwascentralrs80359330
openSNPrs80359330
23andMers80359330
SNPshotrs80359330
SNPdbers80359330
MSV3drs80359330
GWAS Ctlgrs80359330
Max Magnitude6

rs80359330, also known as 2674delG, c.2446_2446delG and p.Glu816Lysfs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk rs80359330(-;-)
Alt rs80359330(-;-)
Reference Rs80359330(G;G)
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.32910938delG
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000043996.2, RCV000113045.2,