Have questions? Visit https://www.reddit.com/r/SNPedia

rs80359388

From SNPedia

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


Make rs80359388(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32337900
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359388
ebirs80359388
HLIrs80359388
Exacrs80359388
Varsomers80359388
Maprs80359388
PheGenIrs80359388
hapmaprs80359388
1000 genomesrs80359388
hgdprs80359388
ensemblrs80359388
gopubmedrs80359388
geneviewrs80359388
scholarrs80359388
googlers80359388
pharmgkbrs80359388
gwascentralrs80359388
openSNPrs80359388
23andMers80359388
23andMe allrs80359388
SNP Nexus

SNPshotrs80359388
SNPdbers80359388
MSV3drs80359388
GWAS Ctlgrs80359388
Max Magnitude6
rs80359388, also known as 3773delTT, c.3545_3546delTT and p.Phe1182Terfs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359388(;)
Alt rs80359388(;)
Reference rs80359388(TT;TT)
Significance Pathogenic
Disease Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome Familial cancer of breast Hereditary cancer-predisposing syndrome Inborn genetic diseases
Variation info
Gene BRCA2
CLNDBN Breast-ovarian cancer, familial 2 Hereditary breast and ovarian cancer syndrome Familial cancer of breast Hereditary cancer-predisposing syndrome Inborn genetic diseases
Reversed 0
HGVS NC_000013.10:g.32912037_32912038delTT
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000031427.10, RCV000044219.3, RCV000074527.5, RCV000131093.2, RCV000210566.1,