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Gene | IDH1 |
Variant | T313I |
Impact List | missense |
Protein Effect | no effect - predicted |
Gene Variant Descriptions | IDH1 T313I lies within an NADP-binding region of the Idh1 protein (UniProt.org). T313I confers resistance to an IDH1 inhibitor in the presence of IDH1 R132H, but does not lead to increased production of the oncometabolite 2HG (R(-)-2-hydroxyglutarate), and results in cytokine-independent growth and erythroid differentiation similar to wild-type protein in cell culture (PMID: 36222845), and therefore, is predicted to have no effect on Idh1 protein function. |
Associated Drug Resistance | Y |
Category Variants Paths |
IDH1 mutant IDH1 T313I |
Transcript | NM_005896.4 |
gDNA | chr2:g.208239916G>A |
cDNA | c.938C>T |
Protein | p.T313I |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001282387.1 | chr2:g.208239916G>A | c.938C>T | p.T313I | RefSeq | GRCh38/hg38 |
NM_005896.3 | chr2:g.208239916G>A | c.938C>T | p.T313I | RefSeq | GRCh38/hg38 |
NM_001282386.1 | chr2:g.208239916G>A | c.938C>T | p.T313I | RefSeq | GRCh38/hg38 |
NM_005896.4 | chr2:g.208239916G>A | c.938C>T | p.T313I | RefSeq | GRCh38/hg38 |
NM_001282386.1 | chr2:g.208239916G>A | c.938C>T | p.T313I | RefSeq | GRCh38/hg38 |
NM_001282387.1 | chr2:g.208239916G>A | c.938C>T | p.T313I | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
IDH1 R132H IDH1 T313I | leukemia | resistant | Ivosidenib | Preclinical - Cell line xenograft | Actionable | In a preclinical study, Tibsovo (ivosidenib) did not inhibit Idh1 activity and R-2HG production in a leukemia cell line expressing IDH1 R132H and T313I in culture and did not reduce tumor burden in a cell line xenograft model (PMID: 36222845). | 36222845 |
IDH1 R132H IDH1 T313I | 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 IDH1 R132H and T313I in culture (PMID: 36222845). | 36222845 |
IDH1 R132H IDH1 T313I | leukemia | predicted - resistant | IDH305 | Preclinical - Biochemical | Actionable | In a preclinical study, IDH305 did not inhibit R-2HG production in a leukemia cell line expressing IDH1 R132H and T313I in culture (PMID: 36222845). | 36222845 |
IDH1 R132H IDH1 T313I | leukemia | predicted - resistant | BAY1436032 | Preclinical - Biochemical | Actionable | In a preclinical study, BAY1436032 did not inhibit R-2HG production in a leukemia cell line expressing IDH1 R132H and T313I in culture (PMID: 36222845). | 36222845 |
IDH1 R132C IDH1 T313I | acute myeloid leukemia | predicted - resistant | Ivosidenib | Case Reports/Case Series | Actionable | In a clinical case study, IDH1 T313I was identified as an acquired mutation in a patient with acute myeloid leukemia harboring IDH1 R132C upon progression on Tibsovo (ivosidenib) (PMID: 36222845). | 36222845 |