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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 |
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 |
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 |