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rs80359280

From SNPedia

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


Make rs80359280(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32332788
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359280
ebirs80359280
HLIrs80359280
Exacrs80359280
Varsomers80359280
Maprs80359280
PheGenIrs80359280
hapmaprs80359280
1000 genomesrs80359280
hgdprs80359280
ensemblrs80359280
gopubmedrs80359280
geneviewrs80359280
scholarrs80359280
googlers80359280
pharmgkbrs80359280
gwascentralrs80359280
openSNPrs80359280
23andMers80359280
23andMe allrs80359280
SNP Nexus

SNPshotrs80359280
SNPdbers80359280
MSV3drs80359280
GWAS Ctlgrs80359280
Max Magnitude6
rs80359280, also known as 1538del4, c.1310_1313delAAGA and p.Lys437_Asp438?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359280(;)
Alt rs80359280(;)
Reference rs80359280(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,