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Gene IDH1
Variant R132C
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions IDH1 R132C lies within the active site of the Idh1 protein (PMID: 19228619). R132C confers a gain of function to Idh1 as indicated by conversion of alpha-ketoglutarate to the onco-metabolite 2HG (R(-)-2-hydroxyglutarate in culture (PMID: 19935646, PMID: 26161668, PMID: 22885298).
Associated Drug Resistance
Category Variants Paths

IDH1 mutant IDH1 act mut IDH1 R132C

IDH1 mutant IDH1 R132X IDH1 R132C

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Transcript NM_005896.4
gDNA chr2:g.208248389G>A
cDNA c.394C>T
Protein p.R132C
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001282387.1 chr2:g.208248389G>A c.394C>T p.R132C RefSeq GRCh38/hg38
NM_005896.3 chr2:g.208248389G>A c.394C>T p.R132C RefSeq GRCh38/hg38
NM_001282386.1 chr2:g.208248389G>A c.394C>T p.R132C RefSeq GRCh38/hg38
NM_005896.4 chr2:g.208248389G>A c.394C>T p.R132C RefSeq GRCh38/hg38
NM_001282387.1 chr2:g.208248389G>A c.394C>T p.R132C RefSeq GRCh38/hg38
NM_001282386 chr2:g.208248389G>A c.394C>T p.R132C RefSeq GRCh38/hg38
NM_001282386.1 chr2:g.208248389G>A c.394C>T p.R132C RefSeq GRCh38/hg38
NM_001282387 chr2:g.208248389G>A c.394C>T p.R132C RefSeq GRCh38/hg38
NM_005896 chr2:g.208248389G>A c.394C>T p.R132C 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 S280F acute myeloid leukemia predicted - resistant Ivosidenib Case Reports/Case Series Actionable In a clinical case study, a patient with acute myeloid leukemia (AML) harboring IDH1 R132C progressed following an initial response to treatment with Tibsovo (ivosidenib), and was found to have acquired IDH1 S280F (PMID: 33832922). 33832922
IDH1 R132C IDH1 S280F acute myeloid leukemia predicted - resistant Ivosidenib Case Reports/Case Series Actionable In a clinical study, IDH1 S280F was identified as an acquired mutation in cis with the original IDH1 R132C in a patient with acute myeloid leukemia (AML), who developed resistance to Tibsovo (ivosidenib) after initial response (PMID: 29950729). 29950729
IDH1 R132C IDH1 S280F acute myeloid leukemia predicted - resistant Ivosidenib Case Reports/Case Series Actionable In a Phase I trial, IDH1 S280F was identified at progression in 3 patients with acute myeloid leukemia harboring IDH1 R132C who previously responded to Tibsovo (ivosidenib) treatment (PMID: 32380538; NCT02074839). 32380538
IDH1 R132C IDH2 R172K intrahepatic cholangiocarcinoma predicted - resistant Ivosidenib Case Reports/Case Series Actionable In a clinical case study, IDH2 R172K was identified upon progression in a patient with metastatic intrahepatic cholangiocarcinoma harboring IDH1 R132C, along with PIK3CA E545K, who previously responded to Tibsovo (ivosidenib) (PMID: 36056177). 36056177
IDH1 R132C IDH1 D279N intrahepatic cholangiocarcinoma predicted - resistant Ivosidenib Case Reports/Case Series Actionable In a clinical case study, IDH1 D279N was identified upon progression in a patient with metastatic intrahepatic cholangiocarcinoma harboring IDH1 R132C, along with NRAS G13V, who previously responded to Tibsovo (ivosidenib) (PMID: 36056177). 36056177
IDH1 R132C IDH1 D279N IDH2 R140Q acute myeloid leukemia predicted - resistant Ivosidenib Case Reports/Case Series Actionable In a Phase I trial, IDH1 D279N and IDH2 R140Q 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 G131A IDH1 R132C acute myeloid leukemia predicted - resistant Ivosidenib Case Reports/Case Series Actionable In a Phase I trial, IDH1 G131A was 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 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 R132C IDH2 R140Q acute myeloid leukemia predicted - resistant Ivosidenib Case Reports/Case Series Actionable In a Phase I trial, IDH2 R140Q was identified at progression in 5 patients with acute myeloid leukemia harboring IDH1 R132C who previously responded to Tibsovo (ivosidenib) treatment (PMID: 32380538; NCT02074839). 32380538
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