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rs80359746

From SNPedia

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


Make rs80359746(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32379865
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359746
ebirs80359746
HLIrs80359746
Exacrs80359746
Varsomers80359746
Maprs80359746
PheGenIrs80359746
hapmaprs80359746
1000 genomesrs80359746
hgdprs80359746
ensemblrs80359746
gopubmedrs80359746
geneviewrs80359746
scholarrs80359746
googlers80359746
pharmgkbrs80359746
gwascentralrs80359746
openSNPrs80359746
23andMers80359746
23andMe allrs80359746
SNP Nexus

SNPshotrs80359746
SNPdbers80359746
MSV3drs80359746
GWAS Ctlgrs80359746
Max Magnitude6
rs80359746, also known as 9297del8, c.9069_9076delTAACATAC and p.Ala3023_Gln3026?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359746(;)
Alt rs80359746(;)
Reference rs80359746(CTAACATA;CTAACATA)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer Tumor susceptibility linked to germline BAP1 mutations
Variation info
Gene BRCA2
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 2 Tumor susceptibility linked to germline BAP1 mutations
Reversed 0
HGVS NC_000013.10:g.32954002_32954009delTAACATAC
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000045702.2, RCV000114040.1, RCV000222600.1,