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Gene | IDH1 |
Variant | R132S |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | IDH1 R132S lies within the active site of the Idh1 protein (PMID: 19228619). R132S 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 R132S IDH1 mutant IDH1 R132X IDH1 R132S |
Transcript | NM_005896.4 |
gDNA | chr2:g.208248389G>T |
cDNA | c.394C>A |
Protein | p.R132S |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_005896.4 | chr2:g.208248389G>T | c.394C>A | p.R132S | RefSeq | GRCh38/hg38 |
NM_001282387.1 | chr2:g.208248389G>T | c.394C>A | p.R132S | RefSeq | GRCh38/hg38 |
NM_005896.3 | chr2:g.208248389G>T | c.394C>A | p.R132S | RefSeq | GRCh38/hg38 |
NM_001282386.1 | chr2:g.208248389G>T | c.394C>A | p.R132S | RefSeq | GRCh38/hg38 |
NM_001282386.1 | chr2:g.208248389G>T | c.394C>A | p.R132S | RefSeq | GRCh38/hg38 |
NM_001282386 | chr2:g.208248389G>T | c.394C>A | p.R132S | RefSeq | GRCh38/hg38 |
NM_001282387.1 | chr2:g.208248389G>T | c.394C>A | p.R132S | RefSeq | GRCh38/hg38 |
NM_001282387 | chr2:g.208248389G>T | c.394C>A | p.R132S | RefSeq | GRCh38/hg38 |
NM_005896 | chr2:g.208248389G>T | c.394C>A | p.R132S | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
IDH1 R119P IDH1 R132S | 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 R132S who previously responded to Tibsovo (ivosidenib) treatment (PMID: 32380538; NCT02074839). | 32380538 |