Annotation Detail

Information
Associated Genes
IDH2
Associated Variants
IDH2 p.Arg172Lys (p.R172K) ( ENST00000540499.2, ENST00000559482.5, ENST00000330062.8 )
IDH2 p.Arg172Lys (p.R172K) ( ENST00000330062.8, ENST00000540499.2, ENST00000559482.5 )
Associated Disease
acute myeloid leukemia
Source Database
CIViC Evidence
Description
In AML, patients with an IDH2 R172K mutation have worse overall survival compared to those with wild-type IDH2.
Variant Origin
somatic
Variant Origin
Somatic
Evidence URL
https://civic.genome.wustl.edu/links/evidence_items/375
Gene URL
https://civic.genome.wustl.edu/links/genes/27
Variant URL
https://civic.genome.wustl.edu/links/variants/63
Rating
3
Evidence Type
Prognostic
Disease
Acute Myeloid Leukemia
Evidence Direction
Supports
Evidence Level
B
Clinical Significance
Poor Outcome
Pubmed
21596855
Drugs