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rs80359480

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
(-;A) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs80359480(-;-)
Make rs80359480(A;A)
ReferenceGRCh38 38.1/141
Chromosome13
Position32339428
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359480
ebirs80359480
HLIrs80359480
Exacrs80359480
Varsomers80359480
Maprs80359480
PheGenIrs80359480
hapmaprs80359480
1000 genomesrs80359480
hgdprs80359480
ensemblrs80359480
gopubmedrs80359480
geneviewrs80359480
scholarrs80359480
googlers80359480
pharmgkbrs80359480
gwascentralrs80359480
openSNPrs80359480
23andMers80359480
23andMe allrs80359480
SNP Nexus

SNPshotrs80359480
SNPdbers80359480
MSV3drs80359480
GWAS Ctlgrs80359480
Max Magnitude6
rs80359480, also known as 5301insA, c.5073_5074insA and p.Lys1691_Trp1692?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359480(A;A)
Alt rs80359480(A;A)
Reference rs80359480(;)
Significance Pathogenic
Disease Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome Familial cancer of breast not specified
Variation info
Gene BRCA2
CLNDBN Breast-ovarian cancer, familial 2 Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome Familial cancer of breast not specified
Reversed 0
HGVS NC_000013.10:g.32913565dupA
CLNSRC Breast Cancer Information Core (BRCA2) Inc.
CLNACC RCV000031524.7, RCV000044550.7, RCV000130743.3, RCV000160294.1, RCV000238830.1,