Gene Variant Detail

Contact

Missing content? – Request curation!

Request curation for specific Genes, Variants, or PubMed publications.

Have questions, comments, or suggestions? - Let us know!

Email us at : ckbsupport@genomenon.com

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

Filtering

  • Case insensitive filtering will display rows if any text in any cell matches the filter term
  • 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")

Sorting

  • Generally, the default sort order for tables is set to be first column ascending; however, specific tables may set a different default sort order.
  • Click on any column header arrows to sort by that column
  • Hold down the Shift key and click multiple columns to sort by more than one column. Be sure to set ascending or descending order for a given column before moving on to the next column.

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 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

Filtering

  • Case insensitive filtering will display rows if any text in any cell matches the filter term
  • 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")

Sorting

  • Generally, the default sort order for tables is set to be first column ascending; however, specific tables may set a different default sort order.
  • Click on any column header arrows to sort by that column
  • Hold down the Shift key and click multiple columns to sort by more than one column. Be sure to set ascending or descending order for a given column before moving on to the next column.

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...