Overview

Gene Location [1]
2q34
Pathways
Chromatin remodeling/DNA methylation, Metabolic signaling
Variant Type
Substitution - Missense
Affected Exon Number
2
Gene
IDH1
SIFT Prediction [3]
Deleterious
ClinVar Prediction [3]
Pathogenic

IDH1 R132L is present in 0.09% of AACR GENIE cases, with lung adenocarcinoma, intrahepatic cholangiocarcinoma, and cholangiocarcinoma having the greatest prevalence [4].

Top Disease Cases with IDH1 R132L

Biomarker-Directed Therapies

Significance of IDH1 R132L in Diseases

Acute Myeloid Leukemia +

Cholangiocarcinoma +

Malignant Solid Tumor +

Glioma +

Myelodysplastic Syndromes +

Chondrosarcoma +

Intrahepatic Cholangiocarcinoma +

Bile Duct Carcinoma +

Malignant Hepatobiliary Neoplasm +

Astrocytoma +

Cancer +

Acute Myeloid Leukemia Arising From Previous Myelodysplastic Syndrome +

Anaplastic Astrocytoma +

Diffuse Astrocytoma +

Hepatocellular Carcinoma +

Myeloproliferative Neoplasm +

Oligodendroglioma +

Secondary Acute Myeloid Leukemia +

Therapy-Related Acute Myeloid Leukemia +

References

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 6. 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.