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
acute myeloid leukemia
Source Database
CIViC Evidence
Description
In an experimental study of acute myeloid leukemia (AML) cell lines expressing IDH1 R132C, IDH1 R132G, or IDH1 R132H mutations were associated with increased sensitivity to small molecule glutaminase inhibitor, bis-2-(5-phenylacetamido-1,2,4-thiadiazol-2-yl)ethyl sulfide (BPTES) as compared to AML cell lines expressing wild-type IDH1. Sensitivity was determined by assessing cell growth.
Variant Origin
somatic
Variant Origin
Somatic
Evidence URL
https://civic.genome.wustl.edu/links/evidence_items/2332
Gene URL
https://civic.genome.wustl.edu/links/genes/26
Variant URL
https://civic.genome.wustl.edu/links/variants/59
Rating
3
Evidence Type
Predictive
Disease
Acute Myeloid Leukemia
Evidence Direction
Supports
Drug
BPTES
Evidence Level
D
Clinical Significance
Sensitivity/Response
Pubmed
24333121
Drugs
Drug NameSensitivitySupported
BPTESSensitivitytrue