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rs80359524

From SNPedia

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


Make rs80359524(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32339950
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359524
ebirs80359524
HLIrs80359524
Exacrs80359524
Varsomers80359524
Maprs80359524
PheGenIrs80359524
hapmaprs80359524
1000 genomesrs80359524
hgdprs80359524
ensemblrs80359524
gopubmedrs80359524
geneviewrs80359524
scholarrs80359524
googlers80359524
pharmgkbrs80359524
gwascentralrs80359524
openSNPrs80359524
23andMers80359524
23andMe allrs80359524
SNP Nexus

SNPshotrs80359524
SNPdbers80359524
MSV3drs80359524
GWAS Ctlgrs80359524
Max Magnitude6
rs80359524, also known as 5823delAT, c.5595_5596delAT and p.Ile1865_Phe1866IleTyrfs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359524(;)
Alt rs80359524(;)
Reference rs80359524(AT;AT)
Significance Pathogenic
Disease Breast-ovarian cancer Familial cancer of breast Tumor susceptibility linked to germline BAP1 mutations
Variation info
Gene BRCA2
CLNDBN Breast-ovarian cancer, familial 2 Familial cancer of breast Tumor susceptibility linked to germline BAP1 mutations
Reversed 0
HGVS NC_000013.10:g.32914087_32914088delAT
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000031558.4, RCV000044690.2, RCV000219038.1,