Gene Variant Detail

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Gene IDH1
Variant R132V
Impact List missense
Protein Effect unknown
Gene Variant Descriptions IDH1 R132V lies within the active site of the Idh1 protein (PMID: 19228619). R132V has been identified in the scientific literature (PMID: 28330869, PMID: 26189213, PMID: 18985363), but has not been biochemically characterized and therefore, its effect on Idh1 protein function is unknown (PubMed, Jun 2022).
Associated Drug Resistance

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Transcript NM_005896.3
gDNA chr2:g.208248388_208248389delCGinsGT
cDNA c.394_395delCGinsGT
Protein p.R132V
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_005896.3 chr2:g.208248388_208248389delCGinsGT c.394_395delCGinsGT p.R132V RefSeq GRCh38/hg38
NM_005896 chr2:g.208248388_208248389delCGinsAC c.394_395delCGinsGT p.R132V RefSeq GRCh38/hg38
NM_001282387 chr2:g.208248388_208248389delCGinsAC c.394_395delCGinsGT p.R132V RefSeq GRCh38/hg38
NM_001282386.1 chr2:g.208248388_208248389delCGinsGT c.394_395delCGinsGT p.R132V RefSeq GRCh38/hg38
NM_001282386 chr2:g.208248388_208248389delCGinsAC c.394_395delCGinsGT p.R132V RefSeq GRCh38/hg38
NM_001282387.1 chr2:g.208248388_208248389delCGinsGT c.394_395delCGinsGT p.R132V RefSeq GRCh38/hg38

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
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 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 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 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 mutant acute myeloid leukemia predicted - sensitive Daunorubicin + Talazoparib Preclinical - Patient cell culture Actionable In a preclinical study, the combination therapy of Talzenna (talazoparib) and Cerubidine (daunoruibicin) resulted in an additive effect in cells from a patient with acute myeloid leukemia harboring an IDH1 mutation, demonstrating decreased colony formation in culture (PMID: 29339439). 29339439
IDH1 mutant acute myeloid leukemia predicted - sensitive Olaparib Preclinical - Patient cell culture Actionable In a preclinical study, cells from a patient with acute myeloid leukemia harboring an IDH1 mutation were sensitive to treatment with Lynparza (olaparib) in culture, demonstrating decreased colony formation (PMID: 29339439). 29339439
IDH1 mutant acute myeloid leukemia predicted - sensitive LY3410738 Preclinical - Pdx & cell culture Actionable In a preclinical study, LY3410738 reversed mutant IDH1-induced differentiation block in patient-derived acute myeloid leukemia (AML) cells, inhibited 2-HG production, induced differentiation, and eliminated AML cells in patient-derived orthotopic animal models of IDH1-mutant AML (AACR 2019 Annual Meeting, Abstract LB-274). detail...
IDH1 mutant acute myeloid leukemia predicted - sensitive Talazoparib Preclinical - Patient cell culture Actionable In a preclinical study, cells from a patient with acute myeloid leukemia harboring an IDH1 mutation were sensitive to treatment with Talzenna (talazoparib) in culture, demonstrating decreased colony formation (PMID: 29339439). 29339439
IDH1 mutant acute myeloid leukemia sensitive Azacitidine + Venetoclax Guideline Actionable Venclexta (venetoclax) in combination with Vidaza (azacitidine) is included in guidelines for adult patients with acute myeloid leukemia harboring an IDH1 mutation (NCCN.org). detail...
IDH1 mutant acute myeloid leukemia sensitive Decitabine Guideline Actionable Dacogen (decitabine) is included in guidelines for adult patients with acute myeloid leukemia harboring an IDH1 mutation (NCCN.org). detail...
IDH1 mutant glioblastoma not applicable N/A Guideline Diagnostic IDH1 mutations aid in the diagnosis of secondary grade IV glioblastomas (NCCN.org). detail...
IDH1 mutant glioblastoma not applicable N/A Clinical Study Prognostic In multiple clinical studies, including two meta-analyses, IDH1 mutations were associated with a greater overall survival and progression-free survival in patients with glioblastoma (PMID: 23904262, PMID: 26945349, PMID: 20560678). 20560678 23904262 26945349
IDH1 mutant anaplastic astrocytoma not applicable N/A Guideline Diagnostic IDH1 mutations aid in the diagnosis of grade III astrocytomas (NCCN.org). detail...
IDH1 mutant acute myeloid leukemia sensitive Cytarabine + Venetoclax Phase Ib/II Actionable In a Phase I/II trial, Venclexta (venetoclax) in combination with low-dose cytarabine resulted in complete remission or complete remission with incomplete count recovery in 72% (13/18) of patients with acute myeloid leukemia harboring IDH1 or IDH2 mutations who were ineligible for intensive chemotherapy (ASH Annual Meeting, Dec 2018, Abstract 284; NCT02287233). detail...
IDH1 mutant acute myeloid leukemia sensitive Cytarabine + Venetoclax Guideline Actionable Venclexta (venetoclax) in combination with Cytosar-U (cytarabine) is included in guidelines for adult patients with acute myeloid leukemia harboring an IDH1 mutation (NCCN.org). detail...
IDH1 mutant acute myeloid leukemia predicted - sensitive Venetoclax Phase II Actionable In a Phase II trial, 33% (4/12) of acute myeloid leukemia patients harboring either IDH1 or IDH2 mutations responded to treatment with Venclexta (venetoclax), demonstrating a complete response or complete response with incomplete blood count recovery (PMID: 27520294). 27520294
IDH1 mutant chondrosarcoma resistant Dasatinib Preclinical Actionable In a preclinical study, chondrosarcoma cells harboring IDH1 mutations were resistant to Sprycel (dasatinib) in culture (PMID: 27231123). 27231123
IDH1 mutant myeloid neoplasm predicted - sensitive Ivosidenib + Venetoclax Phase Ib/II Actionable In a Phase I/II trial, Tibsovo (ivosidenib) and Venclexta (venetoclax) combination therapy demonstrated safety and preliminary efficacy in patients with advanced myeloid malignancies harboring IDH1 mutations, resulted in an overall response rate of 67% (4/6) and 100% (6/6) at 400 mg and 800 mg doses, respectively (EMJ Hematol. 2020;8(1):50-53; NCT03471260). detail...
IDH1 mutant glioblastoma predicted - sensitive Bevacizumab + Lomustine Phase II Actionable In a retrospective analysis of a Phase II trial, IDH1 mutation correlated with favorable overall survival in recurrent glioblastoma patients treated with a combination of Avastin (bevacizumab) and Lomustine (PMID: 26762204). 26762204
IDH1 mutant high grade glioma not applicable N/A Guideline Prognostic IDH1 mutations are associated with a favorable prognosis in patients with glioma, and are associated with a survival benefit for patients treated with radiation or alkylator therapy (NCCN.org). detail...
IDH1 mutant high grade glioma not applicable N/A Clinical Study Prognostic In multiple clinical studies, including two meta-analyses, IDH1 mutations were associated with improved overall survival and progression free survival in patients with gliomas (PMID: 23817809, PMID: 26220714, PMID: 23894344). 23894344 23817809 26220714
IDH1 mutant high grade glioma not applicable N/A Guideline Diagnostic IDH1 mutations aid in the diagnosis of gliomas (PMID: 23041832, PMID: 19755387, PMID: 19915484; NCCN.org). detail... 23041832 19755387 19915484
IDH1 mutant oligodendroglioma not applicable N/A Guideline Diagnostic IDH1 mutations aid in the diagnosis of oligodendrogliomas (NCCN.org). detail...
IDH1 mutant myelofibrosis not applicable N/A Guideline Prognostic IDH1 mutations are associated with inferior leukemia-free survival in patients with myelofibrosis (NCCN.org). detail...
IDH1 mutant myelofibrosis not applicable N/A Guideline Diagnostic IDH1 mutations aid in the diagnosis of primary myelofibrosis in the absence of JAK2, CALR, or MPL mutations (NCCN.org). detail...
IDH1 mutant polycythemia vera not applicable N/A Guideline Prognostic IDH1 mutations are associated with inferior overall survival in patients with polycythemia vera (NCCN.org). detail...
IDH1 mutant acute myeloid leukemia predicted - sensitive Daunorubicin + Olaparib Preclinical - Patient cell culture Actionable In a preclinical study, the combination therapy of Lynparza (olaparib) and Cerubidine (daunoruibicin) resulted in an additive effect in cells from a patient with acute myeloid leukemia harboring an IDH1 mutation, demonstrating decreased colony formation in culture (PMID: 29339439). 29339439
IDH1 mutant myeloid neoplasm predicted - sensitive Azacitidine + Ivosidenib + Venetoclax Phase Ib/II Actionable In a Phase I/II trial, Tibsovo (ivosidenib) in combination with Vidaza (azacitidine) and Venclexta (venetoclax) demonstrated safety and preliminary efficacy in patients with advanced myeloid malignancies harboring IDH1 mutations, resulted in an overall response rate of 100% (8/8) (EMJ Hematol. 2020;8(1):50-53; NCT03471260). detail...
IDH1 mutant acute myeloid leukemia sensitive Azacitidine + Ivosidenib FDA approved - Has Companion Diagnostic Actionable In a Phase III trial (AGILE) that supported FDA approval, Tibsovo (ivosidenib) and Vidaza (azacytidine) combination therapy significantly improved event-free survival (HR 0.33, p=0.002) and median overall survival (24.0 vs 7.9 mo, HR 0.44, p=0.001) compared to Vidaza (azacytidine) plus placebo in patients with newly diagnosed acute myeloid leukemia harboring IDH1 mutations including R132C/H/G/L/S (PMID: 35443108; NCT03173248). detail... 35443108 detail...
IDH1 mutant angioimmunoblastic T-cell lymphoma not applicable N/A Guideline Diagnostic IDH1 mutations aid in the diagnosis of angioimmunoblastic T-cell lymphoma (NCCN.org). detail...
IDH1 mutant high grade glioma predicted - sensitive AG-881 Phase I Actionable In a Phase I trial, Vorasidenib (AG-881) treatment resulted in an objective response in 13.6% (3/21, 1 partial response, 2 minor response) and stable disease in 77.3% (17/21) of patients with recurrent or progressive non-enhancing glioma harboring mutations in IDH1 (n=20) or IDH2 (n=1), with 60.5% of the patients remained progression-free and alive at 24 months (J Clin Oncol 38: 2020 (suppl; abstr 2504); NCT02481154). detail...
IDH1 mutant acute myeloid leukemia sensitive Ivosidenib Guideline Actionable Tibsovo (ivosidenib) is included in guidelines for patients with relapsed or refractory acute myeloid leukemia harboring an IDH1 mutation (NCCN.org). detail...
IDH1 mutant acute myeloid leukemia sensitive Ivosidenib FDA approved - Has 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... detail... 29860938
IDH1 mutant acute myeloid leukemia sensitive Decitabine + Venetoclax Guideline Actionable Venclexta (venetoclax) in combination with Dacogen (decitabine) is included in guidelines for adult patients with acute myeloid leukemia harboring an IDH1 mutation (NCCN.org). detail...
IDH1 mutant cholangiocarcinoma sensitive Ivosidenib Phase I Actionable In a Phase I trial, AG-120 treatment resulted in partial response in 6% (4/72) and stable disease in 56% (40/72) of cholangiocarcinoma patients harboring IDH1 mutations (Journal of Clinical Oncology 35, no. 15_suppl (May 2017) 4015-4015; NCT02073994). detail...
IDH1 mutant cholangiocarcinoma sensitive Ivosidenib FDA approved - Has Companion Diagnostic Actionable In a Phase III (ClarIDHy) trial that supported FDA approval, 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/H/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). detail... detail... 32416072
IDH1 mutant cholangiocarcinoma sensitive Ivosidenib Guideline Actionable Tibsovo (ivosidenib) is included in guidelines as subsequent therapy for cholangiocarcinoma patients harboring IDH1 mutations (NCCN.org). detail...
IDH1 mutant high grade glioma no benefit Durvalumab + Olaparib Phase II Actionable In a Phase II trial, combination therapy with Lynparza (olaparib) and Imfinzi (durvalumab) was well tolerated, but lacked antitumor activity in glioma patients with IDH1 (8/9) or IDH2 (1/9) mutations, and led to an objective response in one patient with glioblastoma, stable disease as per RECIST but clinical deterioration in two patients, and progressive disease in 6/9 (67%) patients, with a median progression free survival of 2.5 mo (J Clin Oncol 39, no. 15_suppl (May 20, 2021) abstr e14026); NCT03991832). detail...
IDH1 mutant malignant astrocytoma not applicable N/A Guideline Diagnostic IDH1 mutations aid in the diagnosis of grade II and grade III astrocytomas (NCCN.org). detail...
IDH1 mutant acute myeloid leukemia not applicable N/A Clinical Study Prognostic In two meta-analyses, IDH1 mutations were associated with a worse overall survival in patients with acute myeloid leukemia (PMID: 22616558, PMID: 23226625). 22616558 23226625
IDH1 mutant acute myeloid leukemia sensitive Azacitidine Guideline Actionable Vidaza (azacitidine) is included in guidelines for adult patients with acute myeloid leukemia harboring an IDH1 mutation (NCCN.org). detail...
IDH1 mutant lung adenocarcinoma resistant Dasatinib Preclinical Actionable In a preclinical study, lung adenocarcinoma cells harboring IDH1 mutations were resistant to Sprycel (dasatinib) in culture (PMID: 27231123). 27231123
Molecular Profile Protein Effect Treatment Approaches
IDH1 R132V unknown IDH Inhibitor (Pan) IDH1 Inhibitor