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Gene IDH1
Variant H315D
Impact List missense
Protein Effect no effect - predicted
Gene Variant Descriptions IDH1 H315D lies within an NADP-binding region of the Idh1 protein (UniProt.org). H315D 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 H315D

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Transcript NM_005896.4
gDNA chr2:g.208239911G>C
cDNA c.943C>G
Protein p.H315D
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001282386.1 chr2:g.208239911G>C c.943C>G p.H315D RefSeq GRCh38/hg38
NM_005896.3 chr2:g.208239911G>C c.943C>G p.H315D RefSeq GRCh38/hg38
NM_001282386.1 chr2:g.208239911G>C c.943C>G p.H315D RefSeq GRCh38/hg38
NM_005896.4 chr2:g.208239911G>C c.943C>G p.H315D RefSeq GRCh38/hg38
NM_001282387.1 chr2:g.208239911G>C c.943C>G p.H315D RefSeq GRCh38/hg38
NM_001282387.1 chr2:g.208239911G>C c.943C>G p.H315D RefSeq GRCh38/hg38

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
IDH1 R132C IDH1 D279N IDH1 H315D acute myeloid leukemia predicted - resistant Ivosidenib Case Reports/Case Series Actionable In a Phase I trial, IDH1 H315D and D279N were identified at progression in a patient with acute myeloid leukemia harboring IDH1 R132C who previously responded to Tibsovo (ivosidenib) treatment (PMID: 32380538; NCT02074839). 32380538
IDH1 R132H IDH1 H315D 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 H315D in culture and did not reduce tumor burden in a cell line xenograft model (PMID: 36222845). 36222845
IDH1 R132H IDH1 H315D 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 H315D in culture (PMID: 36222845). 36222845
IDH1 R132H IDH1 H315D 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 H315D in culture (PMID: 36222845). 36222845
IDH1 R132H IDH1 H315D 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 H315D in culture (PMID: 36222845). 36222845