Gene Variant Detail

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Gene IDH1
Variant R132G
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions IDH1 R132G lies within the active site of the Idh1 protein (PMID: 19228619). R132G confers a gain of function to Idh1, as indicated by production of 2-hydroxyglutarate (2HG) in patient tissue and in vitro assays (PMID: 28330869, PMID: 24529257, PMID: 19935646).
Associated Drug Resistance

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Transcript NM_005896
gDNA chr2:g.208248389G>C
cDNA c.394C>G
Protein p.R132G
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001282386 chr2:g.208248389G>C c.394C>G p.R132G RefSeq GRCh38/hg38
NM_001282387 chr2:g.208248389G>C c.394C>G p.R132G RefSeq GRCh38/hg38
NM_005896 chr2:g.208248389G>C c.394C>G p.R132G RefSeq GRCh38/hg38

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  • Simple literal full or partial string matches
  • Separate multiple filter terms with a spaces, order doesn't matter (a b c and c b a are equivalent )
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  • Use quotes to match a longer phrase which contains spaces "mtor c1483f"

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
IDH1 R132G cholangiocarcinoma predicted - sensitive Ivosidenib Phase III Actionable In a Phase III (ClarIDHy) trial, Tibsovo (ivosidenib) treatment significantly improved median progression-free survival (2.7 vs 1.4 mo, HR=0.37, p<0.001) and prolonged median overall survival (10.8 vs 9.7 mo, HR=0.69, p=0.06) compared to placebo in patients with advanced cholangiocarcinoma harboring IDH1 mutations including R132C/L/G/S, resulted in favorable objective response rate (2%, 3/124 vs 0%, 0/61) and stable disease rate (51% vs 28%) (PMID: 32416072; NCT02989857). 32416072
IDH1 R132G acute myeloid leukemia sensitive BAY1436032 Preclinical - Patient cell culture Actionable In a preclinical study, BAY1436032 decreased (R)-2-hydroxyglutarate (R-2HG) levels and increased differentiation of patient-derived acute myeloid leukemia cells harboring IDH1 R132G in culture (PMID: 28232670). 28232670
IDH1 R132G chondrosarcoma predicted - sensitive Ivosidenib Case Reports/Case Series Actionable In a Phase I trial, Tibsovo (ivosidenib) treatment was tolerated, substantially decreased plasma 2-HG levels, and resulted in a median progression-free survival of 5.6 months and stable disease in 52% (11/21) of patients with chondrosarcoma harboring IDH1 mutations, including IDH1 R132G (n=3) (PMID: 32208957; NCT02073994). 32208957
IDH1 R132G acute myeloid leukemia sensitive Ivosidenib FDA approved - On Companion Diagnostic Actionable In a Phase I trial that supported FDA approval, Tibsovo (ivosidenib) treatment resulted in complete remission (CR) in 21.6% (27/125), CR with partial hematological recovery (CRh) in 8.8% (11/125), and overall response (OR) in 41.6% (52/125) of patients with relapsed or refractory acute myeloid leukemia harboring a susceptible IDH1 mutation (R132C/G/H/L/S) as detected by an FDA-approved test (PMID: 29860938; NCT02074839). detail... 29860938 detail...
IDH1 R132G acute myeloid leukemia sensitive Ivosidenib FDA approved - On Companion Diagnostic Actionable In a Phase I trial that supported FDA approval, Tibsovo (ivosidenib) treatment resulted in complete remission (CR) in 28.6% (8/28), CR with partial hematological recovery (CRh) in 14.3% (4/28) of patients age 75 or older with untreated acute myeloid leukemia harboring a susceptible IDH1 mutation (R132C/G/H/L/S) as detected by an FDA-approved test, with a median treatment duration of 4.3 months (PMID: 29860938; NCT02074839). detail... 29860938 detail...
Molecular Profile Protein Effect Treatment Approaches
IDH1 R132G gain of function IDH Inhibitor (Pan) IDH1 Inhibitor