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rs80359494

From SNPedia

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


Make rs80359494(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32339572
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359494
ebirs80359494
HLIrs80359494
Exacrs80359494
Varsomers80359494
Maprs80359494
PheGenIrs80359494
hapmaprs80359494
1000 genomesrs80359494
hgdprs80359494
ensemblrs80359494
gopubmedrs80359494
geneviewrs80359494
scholarrs80359494
googlers80359494
pharmgkbrs80359494
gwascentralrs80359494
openSNPrs80359494
23andMers80359494
23andMe allrs80359494
SNP Nexus

SNPshotrs80359494
SNPdbers80359494
MSV3drs80359494
GWAS Ctlgrs80359494
Max Magnitude6
rs80359494, also known as 5445del4, c.5217_5220delTTTA and p.Tyr1739_Leu1740?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359494(;)
Alt rs80359494(;)
Reference rs80359494(TTAT;TTAT)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer Tumor susceptibility linked to germline BAP1 mutations
Variation info
Gene BRCA2
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 2 Tumor susceptibility linked to germline BAP1 mutations
Reversed 0
HGVS NC_000013.10:g.32913709_32913712delTTTA
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000044611.3, RCV000113400.1, RCV000219606.1,