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Gene | IDH2 |
Variant | E343V |
Impact List | missense |
Protein Effect | no effect - predicted |
Gene Variant Descriptions | IDH2 E343V does not lie within any known functional domains of the Idh2 protein (UniProt.org). E343V confers resistance to an IDH2 inhibitor in the presence of IDH2 R140Q, but does not lead to increased production of the oncometabolite 2HG (R(-)-2-hydroxyglutarate) in cell culture (PMID: 36222845), and therefore, is predicted to have no effect on Idh2 protein function. |
Associated Drug Resistance | Y |
Category Variants Paths |
IDH2 mutant IDH2 E343V |
Transcript | NM_002168.4 |
gDNA | chr15:g.90085327T>A |
cDNA | c.1028A>T |
Protein | p.E343V |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_002168.3 | chr15:g.90085327T>A | c.1028A>T | p.E343V | RefSeq | GRCh38/hg38 |
NM_002168.4 | chr15:g.90085327T>A | c.1028A>T | p.E343V | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
IDH2 R140Q IDH2 E343V | acute myeloid leukemia | predicted - resistant | Enasidenib | Case Reports/Case Series | Actionable | In a clinical case study, IDH2 E343V 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 E343V | leukemia | resistant | Enasidenib | Preclinical - Cell line xenograft | Actionable | In a preclinical study, a leukemia cell line expressing IDH2 R140Q and E343V was resistant to Idhifa (enasidenib) in culture and did not reduce tumor burden in a cell line xenograft model (PMID: 36222845). | 36222845 |
IDH2 R140Q IDH2 E343V | leukemia | predicted - resistant | Vorasidenib | Preclinical - Biochemical | Actionable | In a preclinical study, Vorasidenib (AG-881) did not inhibit R-2HG production in a leukemia cell line expressing IDH2 R140Q and E343V in culture (PMID: 36222845). | 36222845 |