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rs80359659

From SNPedia

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


Make rs80359659(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32330992
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359659
ebirs80359659
HLIrs80359659
Exacrs80359659
Varsomers80359659
Maprs80359659
PheGenIrs80359659
hapmaprs80359659
1000 genomesrs80359659
hgdprs80359659
ensemblrs80359659
gopubmedrs80359659
geneviewrs80359659
scholarrs80359659
googlers80359659
pharmgkbrs80359659
gwascentralrs80359659
openSNPrs80359659
23andMers80359659
23andMe allrs80359659
SNP Nexus

SNPshotrs80359659
SNPdbers80359659
MSV3drs80359659
GWAS Ctlgrs80359659
Max Magnitude6
rs80359659, also known as 983del4, c.755_758delACAG and p.Asp252_Ser253?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359659(;)
Alt rs80359659(;)
Reference rs80359659(GACA;GACA)
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.32905129_32905132delACAG
CLNSRC Breast Cancer Information Core (BRCA2) Inc.
CLNACC RCV000031685.7, RCV000045245.5, RCV000162899.2, RCV000167860.2,