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rs80359561

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
(-;A) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs80359561(A;A)
ReferenceGRCh38 38.1/141
Chromosome13
Position32340484
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359561
dbSNP (classic)rs80359561
ClinGenrs80359561
ebirs80359561
HLIrs80359561
Exacrs80359561
Gnomadrs80359561
Varsomers80359561
LitVarrs80359561
Maprs80359561
PheGenIrs80359561
Biobankrs80359561
1000 genomesrs80359561
hgdprs80359561
ensemblrs80359561
geneviewrs80359561
scholarrs80359561
googlers80359561
pharmgkbrs80359561
gwascentralrs80359561
openSNPrs80359561
23andMers80359561
SNPshotrs80359561
SNPdbers80359561
MSV3drs80359561
GWAS Ctlgrs80359561
Max Magnitude6

rs80359561, also known as 6357insA, c.6129_6130insA and p.Lys2043_Gly2044?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk rs80359561(A;A)
Alt rs80359561(A;A)
Reference Rs80359561(-;-)
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.32914621dupA
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000044852.2, RCV000113535.3, RCV000481411.1,