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rs80359423

From SNPedia

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


Make rs80359423(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32338403
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359423
ebirs80359423
HLIrs80359423
Exacrs80359423
Varsomers80359423
Maprs80359423
PheGenIrs80359423
hapmaprs80359423
1000 genomesrs80359423
hgdprs80359423
ensemblrs80359423
gopubmedrs80359423
geneviewrs80359423
scholarrs80359423
googlers80359423
pharmgkbrs80359423
gwascentralrs80359423
openSNPrs80359423
23andMers80359423
23andMe allrs80359423
SNP Nexus

SNPshotrs80359423
SNPdbers80359423
MSV3drs80359423
GWAS Ctlgrs80359423
Max Magnitude6
rs80359423, also known as 4276del4, c.4048_4051delCATA and p.His1350_Lys1351?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359423(;)
Alt rs80359423(;)
Reference rs80359423(CATA;CATA)
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.32912540_32912543delCATA
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000044337.2, RCV000113268.1, RCV000218617.1,