IDH1 R132X - Gene Variant Detail

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Gene IDH1
Variant R132X
Impact List missense
Protein Effect unknown
Gene Variant Descriptions IDH1 R132X indicates any Idh1 missense mutation that results in the replacement of the arginine (R) at amino acid 132 by a different amino acid. R132 variants are hotspot mutations in Idh1, which often results in conversion of alpha-ketoglutarate to the onco-metabolite 2HG (R(-)-2-hydroxyglutarate) (PMID: 19935646, PMID: 28330869, PMID: 21326614).
Associated Drug Resistance
Category Variants Paths

IDH1 mutant IDH1 R132X

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Transcript NM_005896.4
gDNA chr2:g.208248387_208248389
cDNA c.394_396
Protein p.R132
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001282387.1 chr2:g.208248387_208248389 c.394_396 p.R132 RefSeq GRCh38/hg38
NM_001282386 chr2:g.208248387_208248389 c.394_396 p.R132 RefSeq GRCh38/hg38
NM_005896.3 chr2:g.208248387_208248389 c.394_396 p.R132 RefSeq GRCh38/hg38
NM_001282386.1 chr2:g.208248387_208248389 c.394_396 p.R132 RefSeq GRCh38/hg38
NM_001282386.1 chr2:g.208248387_208248389 c.394_396 p.R132 RefSeq GRCh38/hg38
NM_001282387 chr2:g.208248387_208248389 c.394_396 p.R132 RefSeq GRCh38/hg38
NM_005896 chr2:g.208248387_208248389 c.394_396 p.R132 RefSeq GRCh38/hg38
NM_001282387.1 chr2:g.208248387_208248389 c.394_396 p.R132 RefSeq GRCh38/hg38
NM_005896.4 chr2:g.208248387_208248389 c.394_396 p.R132 RefSeq GRCh38/hg38

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
IDH1 R132X acute myeloid leukemia sensitive IDH305 Phase I Actionable In a Phase I trial, IDH305 treatment resulted in objective response in 33% (7/21) of acute myeloid leukemia patients harboring IDH1 R132 mutations, including complete remission in 3 (14%) and partial remission in 4 (19%) patients (Blood 2016 128 (22):1073). detail...
IDH1 R132X acute myeloid leukemia predicted - sensitive CG-806 Preclinical - Patient cell culture Actionable In a preclinical study, patient-derived acute myeloid leukemia cells harboring IDH1 R132X mutations demonstrated increased sensitivity to CG-806 compared to wild-type cells in culture (Proceedings of the American Association for Cancer Research, Vol 60, Mar 2019, Abstract #1323). detail...
IDH1 R132X acute myeloid leukemia no benefit BAY1436032 Phase I Actionable In a Phase I trial, treatment with BAY1436032 in acute myeloid leukemia patients harboring an IDH1 R132X mutation demonstrated safety and resulted in an overall response rate of 15% (4/27), including one complete remission, one partial remission, and morphologic leukemia-free state in two patients, stable disease in 67% (18/27), and a median overall survival of 6.6 months, however, due to low response rates for all doses, further clinical development was not supported (PMID: 32733012; NCT03127735). 32733012
IDH1 R132X low grade glioma predicted - sensitive Ivosidenib Phase I Actionable In a Phase I trial, low grade glioma patients with an IDH1 mutation (n=66; R132H=57, R132C/G/S=1 each, R132X=5) treated with Tibsovo (ivosidenib) demonstrated an overall response rate of 2.9% (1/35, 1 partial response) and stable disease in 85.7% (30/35) of patients with a non-enhancing glioma versus no responses and stable disease in 45.2% (14/31) of patients with an enhancing glioma, and led to a median progression-free survival of 13.6 months and 1.4 months, respectively (PMID: 32530764; NCT02073994). 32530764
IDH1 R132X acute myeloid leukemia predicted - sensitive LY3410738 Phase I Actionable In a Phase I trial, LY3410738 demonstrated safety and inhibited D-2-HG in patients with relapsed or refractory IDH-mutant acute myeloid leukemia, resulting in a composite complete remission (CRc) rate of 38% (12/32, 5 CR, 2 CRh, 5 CRi/CRp) in IDH inhibitor-naive patients harbor IDH1 R132 mutations (Cancer Res (2023) 83 (8_Supplement): CT026; NCT04603001). detail...
IDH1 R132X brain glioma predicted - sensitive Olutasidenib Phase Ib/II Actionable In a Phase Ib/II trial, Rezlidhia (olutasidenib) treatment was well tolerated and did not meet the primary endpoint, with an objective response rate of 8% (2/25, both partial responses) but led to a disease control rate of 48% (12/25) in patients with glioma harboring IDH1 R132H (n=22), R132L (n=2), R132C (n=1), or R132G (n=1) (PMID: 35639513; NCT04380012). 35639513
IDH1 R132X oligodendroglioma sensitive Vorasidenib FDA approved Actionable In a Phase III trial l (INDIGO) that supported FDA approval, Voranigo (vorasidenib) treatment significantly improved progression-free survival (27.7 vs 11.1 months, HR 0.39, p<0.001) and time to next intervention (HR 0.26, p<0.001) compared to placebo in adult and pediatric patients 12 years and older with WHO grade 2 oligodendroglioma or astrocytoma harboring susceptible IDH1 or IDH2 mutations, including IDH1 R132H/C/G/L/S (PMID: 37272516; NCT04164901). 37272516 detail...
IDH1 R132X astrocytoma, IDH-mutant, grade 2 sensitive Vorasidenib FDA approved Actionable In a Phase III trial l (INDIGO) that supported FDA approval, Voranigo (vorasidenib) treatment significantly improved progression-free survival (27.7 vs 11.1 months, HR 0.39, p<0.001) and time to next intervention (HR 0.26, p<0.001) compared to placebo in adult and pediatric patients 12 years and older with WHO grade 2 astrocytoma or oligodendroglioma harboring susceptible IDH1 or IDH2 mutations, including IDH1 R132H/C/G/L/S (PMID: 37272516; NCT04164901). detail... 37272516