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rs80359411

From SNPedia

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


Make rs80359411(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32338215
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359411
ebirs80359411
HLIrs80359411
Exacrs80359411
Varsomers80359411
Maprs80359411
PheGenIrs80359411
hapmaprs80359411
1000 genomesrs80359411
hgdprs80359411
ensemblrs80359411
gopubmedrs80359411
geneviewrs80359411
scholarrs80359411
googlers80359411
pharmgkbrs80359411
gwascentralrs80359411
openSNPrs80359411
23andMers80359411
23andMe allrs80359411
SNP Nexus

SNPshotrs80359411
SNPdbers80359411
MSV3drs80359411
GWAS Ctlgrs80359411
Max Magnitude6
rs80359411, also known as 4088delA, c.3860_3860delA and p.Asn1287Ilefs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359411(G,GAAA;G,GAAA)
Alt rs80359411(G,GAAA;G,GAAA)
Reference rs80359411(A;A)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer Hereditary cancer-predisposing syndrome not provided Tumor susceptibility linked to germline BAP1 mutations
Variation info
Gene BRCA2
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 2 Hereditary cancer-predisposing syndrome not provided Tumor susceptibility linked to germline BAP1 mutations
Reversed 0
HGVS NC_000013.10:g.32912352delA
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000044288.4, RCV000077316.4, RCV000131539.1, RCV000212232.1, RCV000214509.1,