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Gene IDH2
Variant R172W
Impact List missense
Protein Effect gain of function - predicted
Gene Variant Descriptions IDH2 R172W lies within the active site of the Idh2 protein (PMID: 19228619). R172W is associated with increased 2-hydroxyglutarate (2-HG) levels in patient samples (PMID: 34829476, PMID: 22180306), and therefore, is predicted to lead to a gain of Idh2 protein function.
Associated Drug Resistance
Category Variants Paths

IDH2 mutant IDH2 act mut IDH2 R172W

IDH2 mutant IDH2 R172X IDH2 R172W

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Transcript NM_002168.4
gDNA chr15:g.90088607T>A
cDNA c.514A>T
Protein p.R172W
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_002168.3 chr15:g.90088607T>A c.514A>T p.R172W RefSeq GRCh38/hg38
NM_002168.4 chr15:g.90088607T>A c.514A>T p.R172W RefSeq GRCh38/hg38
NM_002168 chr15:g.90088607T>A c.514A>T p.R172W RefSeq GRCh38/hg38

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
IDH2 R172W 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 R172W is on the companion diagnostic. 28588020 detail... detail...
IDH2 R172W acute myeloid leukemia predicted - sensitive Enasidenib + Venetoclax Case Reports/Case Series Actionable In a Phase Ib/II trial, Idhifa (enasidenib) plus Venclexta (venetoclax) was well tolerated and demonstrated activity in relapsed or refractory acute myeloid leukemia patients harboring IDH2 R140Q (15/27) or IDH2 R172K/W (12/27), with an overall response rate (ORR) of 70% (16/23), with complete remission (CR) in 57% (13/23) of evaluable patients, and an ORR of 83% (10/12) and a CR rate of 67% (8/12) in patients harboring IDH2 R172K or IDH2 R172W (Blood (2023) 142 (Supplement 1): 159; NCT04092179). detail...