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rs80359277

From SNPedia

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


Make rs80359277(-;-)
ReferenceGRCh38 38.1/142
Chromosome13
Position32332779
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359277
ebirs80359277
HLIrs80359277
Exacrs80359277
Varsomers80359277
Maprs80359277
PheGenIrs80359277
hapmaprs80359277
1000 genomesrs80359277
hgdprs80359277
ensemblrs80359277
gopubmedrs80359277
geneviewrs80359277
scholarrs80359277
googlers80359277
pharmgkbrs80359277
gwascentralrs80359277
openSNPrs80359277
23andMers80359277
23andMe allrs80359277
SNP Nexus

SNPshotrs80359277
SNPdbers80359277
MSV3drs80359277
GWAS Ctlgrs80359277
Max Magnitude6
rs80359277, also known as 1529del4, c.1301_1304delAAAG and p.Lys434_Arg435?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359277(;)
Alt rs80359277(;)
Reference rs80359277(AAAG;AAAG)
Significance Pathogenic
Disease Breast-ovarian cancer not provided Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome
Variation info
Gene BRCA2
CLNDBN Breast-ovarian cancer, familial 2 not provided Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome
Reversed 0
HGVS NC_000013.10:g.32906925_32906928delAAGA
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000031318.10, RCV000043779.6, RCV000131062.2, RCV000203644.2,