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Gene | IDH2 |
Variant | I319M |
Impact List | missense |
Protein Effect | no effect - predicted |
Gene Variant Descriptions | IDH2 I319M does not lie within any known functional domains of the Idh2 protein (UniPort.org). I319M confers resistance to an IDH2 inhibitor in the presence of IDH2 R140Q, but retains dimerization ability and does not lead to increased production of 2HG in culture (PMID: 29950729, PMID: 36222845), and therefore, is predicted to have no effect on Idh2 protein function. |
Associated Drug Resistance | Y |
Category Variants Paths |
IDH2 mutant IDH2 I319M |
Transcript | NM_002168.4 |
gDNA | chr15:g.90087122G>C |
cDNA | c.957C>G |
Protein | p.I319M |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_002168.4 | chr15:g.90087122G>C | c.957C>G | p.I319M | RefSeq | GRCh38/hg38 |
NM_002168 | chr15:g.90087122G>C | c.957C>G | p.I319M | RefSeq | GRCh38/hg38 |
NM_002168.3 | chr15:g.90087122G>C | c.957C>G | p.I319M | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
IDH2 R140Q IDH2 I319M | acute myeloid leukemia | resistant | Enasidenib | Case Reports/Case Series | Actionable | In a clinical case study, IDH2 I319M was identified as an acquired mutation in a patient with acute myeloid leukemia harboring IDH2 R140Q upon progression on Idhifa (enasidenib) (PMID: 36222845). | 36222845 |
IDH2 R140Q IDH2 I319M | acute myeloid leukemia | resistant | Enasidenib | Case Reports/Case Series | Actionable | In a clinical study, IDH2 I319M was identified as an acquired mutation in trans with the original IDH2 R140Q in a patient with acute myeloid leukemia (AML), who developed resistance to Idhifa (enasidenib) after initial response, and coexpression of IDH2 I319M in trans or in cis with IDH2 R140Q conferred resistance to Idhifa (enasidenib) in culture, supporting a mechanism of variants cooperating to confer resistance (PMID: 29950729). | 29950729 |
IDH2 R140Q IDH2 I319M | leukemia | predicted - resistant | Enasidenib | Preclinical - Biochemical | Actionable | In a preclinical study, Idhifa (enasidenib) did not inhibit Idh2 activity and R-2HG production in a leukemia cell line expressing IDH2 R140Q and I319M in culture (PMID: 36222845). | 36222845 |