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Gene IDH1
Variant R132L
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions IDH1 R132L lies within the active site of the Idh1 protein (PMID: 19228619). R132L confers a gain of function to Idh1, as indicated by increased conversion of alpha-ketoglutarate to the onco-metabolite 2HG (R(-)-2-hydroxyglutarate) in cell culture (PMID: 19935646, PMID: 21326614).
Associated Drug Resistance
Category Variants Paths

IDH1 mutant IDH1 act mut IDH1 R132L

IDH1 mutant IDH1 R132X IDH1 R132L

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Transcript NM_005896.4
gDNA chr2:g.208248388C>A
cDNA c.395G>T
Protein p.R132L
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_005896.4 chr2:g.208248388C>A c.395G>T p.R132L RefSeq GRCh38/hg38
NM_001282386 chr2:g.208248388C>A c.395G>T p.R132L RefSeq GRCh38/hg38
NM_001282386.1 chr2:g.208248388C>A c.395G>T p.R132L RefSeq GRCh38/hg38
NM_001282387.1 chr2:g.208248388C>A c.395G>T p.R132L RefSeq GRCh38/hg38
NM_001282387.1 chr2:g.208248388C>A c.395G>T p.R132L RefSeq GRCh38/hg38
NM_001282387 chr2:g.208248388C>A c.395G>T p.R132L RefSeq GRCh38/hg38
NM_005896 chr2:g.208248388C>A c.395G>T p.R132L RefSeq GRCh38/hg38
NM_005896.3 chr2:g.208248388C>A c.395G>T p.R132L RefSeq GRCh38/hg38
NM_001282386.1 chr2:g.208248388C>A c.395G>T p.R132L RefSeq GRCh38/hg38

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  • Use simple literal full or partial string matches
  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
IDH1 R119P IDH1 R132L IDH2 R140Q acute myeloid leukemia predicted - resistant Ivosidenib Case Reports/Case Series Actionable In a Phase I trial, IDH1 R119P and IDH2 R140Q were identified at progression in a patient with acute myeloid leukemia harboring IDH1 R132L who previously responded to Tibsovo (ivosidenib) treatment (PMID: 32380538; NCT02074839). 32380538
IDH1 R132L 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 a patient with acute myeloid leukemia harboring IDH1 R132L who previously had a response of stable disease with Tibsovo (ivosidenib) treatment (PMID: 32380538; NCT02074839). 32380538
IDH1 R119P IDH1 R132L acute myeloid leukemia predicted - resistant Ivosidenib Case Reports/Case Series Actionable In a Phase I trial, IDH1 R119P was identified at progression in a patient with acute myeloid leukemia harboring IDH1 R132L who previously had a response of stable disease with Tibsovo (ivosidenib) treatment (PMID: 32380538; NCT02074839). 32380538