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rs80359387

From SNPedia

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


Make rs80359387(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32337855
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359387
ebirs80359387
HLIrs80359387
Exacrs80359387
Varsomers80359387
Maprs80359387
PheGenIrs80359387
hapmaprs80359387
1000 genomesrs80359387
hgdprs80359387
ensemblrs80359387
gopubmedrs80359387
geneviewrs80359387
scholarrs80359387
googlers80359387
pharmgkbrs80359387
gwascentralrs80359387
openSNPrs80359387
23andMers80359387
23andMe allrs80359387
SNP Nexus

SNPshotrs80359387
SNPdbers80359387
MSV3drs80359387
GWAS Ctlgrs80359387
Max Magnitude6
rs80359387, also known as 3728delTA, c.3500_3501delTA and p.Ile1167Asnfs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359387(;)
Alt rs80359387(;)
Reference rs80359387(AT;AT)
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.32911992_32911993delTA
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000044209.2, RCV000113186.1, RCV000221119.1,