Annotation Detail

Information
Associated Genes
IDH1
Associated Variants
IDH1 p.Arg132Cys (p.R132C) ( ENST00000345146.7, ENST00000446179.5, ENST00000415913.5 )
IDH1 p.Arg132Cys (p.R132C) ( ENST00000345146.7, ENST00000415913.5, ENST00000446179.5 )
Associated Disease
brain glioma
Source Database
CIViC Evidence
Description
In a study of 189 low-grade gliomas, IDH (IDH1 or IDH2) mutations were found in 132 patients (70%). IDH mutations were associated with improved rate of response to temozolomide as compared to patients with wildtype IDH (61% vs. 17% , P=0.01).
Variant Origin
somatic
Variant Origin
Somatic
Evidence URL
https://civic.genome.wustl.edu/links/evidence_items/2327
Gene URL
https://civic.genome.wustl.edu/links/genes/26
Variant URL
https://civic.genome.wustl.edu/links/variants/59
Rating
2
Evidence Type
Predictive
Disease
Brain Glioma
Evidence Direction
Supports
Drug
Temozolomide
Evidence Level
B
Clinical Significance
Sensitivity/Response
Pubmed
20975057
Drugs
Drug NameSensitivitySupported
TemozolomideSensitivitytrue