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Gene | IDH2 |
Variant | Q316E |
Impact List | missense |
Protein Effect | no effect - predicted |
Gene Variant Descriptions | IDH2 Q316E does not lie within any known functional domains of the Idh2 protein (UniPort.org). Q316E confers resistance to an IDH2 inhibitor in the presence of IDH2 R140Q, but retains dimerization ability and does not lead to increased production of the oncometabolite 2HG (R(-)-2-hydroxyglutarate) in cell 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 Q316E |
Transcript | NM_002168.4 |
gDNA | chr15:g.90087133G>C |
cDNA | c.946C>G |
Protein | p.Q316E |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_002168.3 | chr15:g.90087133G>C | c.946C>G | p.Q316E | RefSeq | GRCh38/hg38 |
NM_002168.4 | chr15:g.90087133G>C | c.946C>G | p.Q316E | RefSeq | GRCh38/hg38 |
NM_002168 | chr15:g.90087133G>C | c.946C>G | p.Q316E | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
IDH2 R140Q IDH2 Q316E | acute myeloid leukemia | resistant | Enasidenib | Case Reports/Case Series | Actionable | In a clinical study, IDH2 Q316E 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 Q316E in trans or in cis with IDH2 R140Q conferred resistance to Idhifa (enasidenib) in culture and in animal models of AML, supporting a mechanism of variants cooperating to confer resistance (PMID: 29950729). | 29950729 |
IDH2 R140Q IDH2 Q316E | 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 Q316E in culture (PMID: 36222845). | 36222845 |