IDH2 R172S
Gene Variant Detail

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Gene IDH2
Variant R172S
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions IDH2 R172S lies within the active site of the Idh2 protein (PMID: 19228619). R172S confers a gain of function to the Idh2 protein as demonstrated by accumulation 2HG (R(-)-2-hydroxyglutarate), and leads to increased migration in cultured cells (PMID: 23264629, PMID: 27913435).
Associated Drug Resistance
Category Variants Paths

IDH2 mutant IDH2 act mut IDH2 R172S

IDH2 mutant IDH2 R172X IDH2 R172S

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Transcript NM_002168.4
gDNA chr15:g.90088605C>G
cDNA c.516G>C
Protein p.R172S
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_002168.4 chr15:g.90088605C>G c.516G>C p.R172S RefSeq GRCh38/hg38
NM_002168 chr15:g.90088605C>G c.516G>C p.R172S RefSeq GRCh38/hg38
NM_002168.3 chr15:g.90088605C>G c.516G>C p.R172S RefSeq GRCh38/hg38

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
IDH2 R172S acute myeloid leukemia sensitive Enasidenib FDA approved - On Companion Diagnostic Actionable In a Phase I/II trial that supported FDA approval, Idhifa (enasidenib) treatment resulted in an overall response rate of 40.3% (71/176) with a median response duration of 5.8 months, complete remission in 19.3% (34/176), and stable disease in 48.3% (85/176) of acute myeloid leukemia patients harboring IDH2 mutations (PMID: 28588020; NCT01915498) and IDH2 R172S is on the companion diagnostic. 28588020 detail... detail...
IDH2 R172S chondrosarcoma sensitive Ceralasertib + Olaparib Preclinical - Cell culture Actionable In a preclinical study, the combination of Lynparza (olaparib) and Ceralasertib (AZD6738) resulted in a greater decrease in cell viability compared to Ceralasertib (AZD6738) alone in chondrosarcoma cells harboring IDH2 R172S in culture (PMID: 34027408). 34027408
IDH2 R172S oligodendroglioma sensitive Vorasidenib FDA approved - On Companion Diagnostic Actionable In a Phase III trial l (INDIGO) that supported FDA approval, Voranigo (vorasidenib) treatment significantly improved progression-free survival (27.7 vs 11.1 months, HR 0.39, p<0.001) and time to next intervention (HR 0.26, p<0.001) compared to placebo in adult and pediatric patients 12 years and older with WHO grade 2 oligodendroglioma or astrocytoma harboring susceptible IDH1 or IDH2 mutations, including IDH2 R172K/M/W/S/G (PMID: 37272516; NCT04164901). 37272516 detail... detail...
IDH2 R172S astrocytoma, IDH-mutant, grade 2 sensitive Vorasidenib FDA approved - On Companion Diagnostic Actionable In a Phase III trial l (INDIGO) that supported FDA approval, Voranigo (vorasidenib) treatment significantly improved progression-free survival (27.7 vs 11.1 months, HR 0.39, p<0.001) and time to next intervention (HR 0.26, p<0.001) compared to placebo in adult and pediatric patients 12 years and older with WHO grade 2 astrocytoma or oligodendroglioma harboring susceptible IDH1 or IDH2 mutations, including IDH2 R172K/M/W/S/G (PMID: 37272516; NCT04164901). 37272516 detail... detail...