Gene Location [1]
Metabolic signaling, Chromatin remodeling/DNA methylation
Variant Type
Substitution - Missense
Affected Exon Number
SIFT Prediction [3]
ClinVar Prediction [3]

IDH2 R172K is present in 0.20% of AACR GENIE cases, with acute myeloid leukemia, oligodendroglioma, anaplastic oligodendroglioma, intrahepatic cholangiocarcinoma, and myelodysplastic syndromes having the greatest prevalence [4].

Top Disease Cases with IDH2 R172K

Biomarker-Directed Therapies

Significance of IDH2 R172K in Diseases

Acute Myeloid Leukemia +

Oligodendroglioma +

Cholangiocarcinoma +

Glioma +

Myelodysplastic Syndromes +

Malignant Solid Tumor +

Astrocytoma +

Acute Myeloid Leukemia Arising From Previous Myelodysplastic Syndrome +

Secondary Acute Myeloid Leukemia +

Therapy-Related Acute Myeloid Leukemia +


1. Hart R and Prlic A. Universal Transcript Archive Repository. Version uta_20180821. San Francisco CA: Github;2015. https://github.com/biocommons/uta

2. The UniProt Consortium. UniProt: a worldwide hub of protein knowledge. Nucleic Acids Research. 2019;47:D506-D515.

3. Liu X, Wu C, Li C, and Boerwinkle E. dbNSFP v3.0: A one-stop database of functional predictions and annotations for human nonsynonymous and splice site SNVs. Human Mutation. 2015;37:235-241.

Liu X, Jian X, and Boerwinkle E. dbNSFP: A lightweight database of human nonsynonymous SNPs and their functional predictions. Human Mutation. 2011;32:894-899.

4. The AACR Project GENIE Consortium. AACR Project GENIE: powering precision medicine through an international consortium. Cancer Discovery. 2017;7(8):818-831. Dataset Version 8. This dataset does not represent the totality of the genetic landscape; see paper for more information.

5. All assertions and clinical trial landscape data are curated from primary sources. You can read more about the curation process here.