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

IDH2 R140W is present in 0.03% of AACR GENIE cases, with acute myeloid leukemia, acute myeloid leukemia not otherwise specified, acute myeloid leukemia with minimal differentiation, blastic plasmacytoid dendritic cell neoplasm, and cutaneous melanoma having the greatest prevalence [4].

Top Disease Cases with IDH2 R140W

Biomarker-Directed Therapies

Significance of IDH2 R140W in Diseases

Acute Myeloid Leukemia +

Secondary Acute Myeloid Leukemia +

Therapy-Related Acute Myeloid Leukemia +

Myelodysplastic Syndromes +

Malignant Solid Tumor +

Acute Myeloid Leukemia Arising From Previous Myelodysplastic Syndrome +

Cholangiocarcinoma +

Glioma +


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.