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Gene | IDH2 |
Variant | R172G |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | IDH2 R172G lies within the active site of the Idh2 protein (PMID: 19228619). R172G results in decreased Idh2 enzymatic activity as indicated by reduced production of NADPH in culture (PMID: 21326614, PMID: 19228619), and confers a gain of function to Idh2 as indicated by production of 2HG (R(-)-2-hydroxyglutarate), and leads to activation of HIF-1-alpha signaling and nuclear accumulation of beta-catenin in cell culture (PMID: 22309944, PMID: 21326614). |
Associated Drug Resistance | |
Category Variants Paths |
IDH2 mutant IDH2 act mut IDH2 R172G IDH2 mutant IDH2 R172X IDH2 R172G |
Transcript | NM_002168.4 |
gDNA | chr15:g.90088607T>C |
cDNA | c.514A>G |
Protein | p.R172G |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_002168.4 | chr15:g.90088607T>C | c.514A>G | p.R172G | RefSeq | GRCh38/hg38 |
NM_002168.3 | chr15:g.90088607T>C | c.514A>G | p.R172G | RefSeq | GRCh38/hg38 |
NM_002168 | chr15:g.90088607T>C | c.514A>G | p.R172G | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
IDH2 R172G | acute myeloid leukemia | sensitive | Enasidenib | FDA approved - On Companion Diagnostic | Actionable | In a Phase I/II trial that supported FDA approval, Idhifa (enasidenib) treatment resulted in an overall response rate of 40.3% (71/176) with a median response duration of 5.8 months, complete remission in 19.3% (34/176), and stable disease in 48.3% (85/176) of acute myeloid leukemia patients harboring IDH2 mutations (PMID: 28588020; NCT01915498) and IDH2 R172G is on the companion diagnostic. | 28588020 detail... detail... |