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rs80359303

From SNPedia

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


Make rs80359303(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32333241
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359303
ebirs80359303
HLIrs80359303
Exacrs80359303
Varsomers80359303
Maprs80359303
PheGenIrs80359303
hapmaprs80359303
1000 genomesrs80359303
hgdprs80359303
ensemblrs80359303
gopubmedrs80359303
geneviewrs80359303
scholarrs80359303
googlers80359303
pharmgkbrs80359303
gwascentralrs80359303
openSNPrs80359303
23andMers80359303
23andMe allrs80359303
SNP Nexus

SNPshotrs80359303
SNPdbers80359303
MSV3drs80359303
GWAS Ctlgrs80359303
Max Magnitude6
rs80359303, also known as 1991del4, c.1763_1766delATAA and p.Asn588_Lys589?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359303(;)
Alt rs80359303(;)
Reference rs80359303(AAAT;AAAT)
Significance Pathogenic
Disease Hereditary breast and ovarian cancer syndrome Familial cancer of breast Breast-ovarian cancer Hereditary cancer-predisposing syndrome
Variation info
Gene BRCA2
CLNDBN Hereditary breast and ovarian cancer syndrome Familial cancer of breast Breast-ovarian cancer, familial 2 Hereditary cancer-predisposing syndrome
Reversed 0
HGVS NC_000013.10:g.32907378_32907381delATAA
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000043877.2, RCV000074515.5, RCV000077264.3, RCV000131054.2,