Overview

Gene Location [1]
9q34.12
Pathway
Kinase fusions
Variant Type
Substitution - Missense
Affected Exon Number
6
Gene
ABL1
Protein Domain [2]
Protein kinase
SIFT Prediction [3]
Deleterious
ClinVar Prediction [3]
Pathogenic

ABL1 T315I is present in 0.09% of AACR GENIE cases, with chronic myeloid leukemia, B-cell lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2); BCR-ABL1, rectal adenocarcinoma, and unknown having the greatest prevalence [4].

Top Disease Cases with ABL1 T315I

Biomarker-Directed Therapies

Significance of ABL1 T315I in Diseases

Chronic Myeloid Leukemia +

Acute Lymphoblastic Leukemia +

Acute Myeloid Leukemia +

Myeloproliferative Neoplasm +

Leukemia +

Lymphoma +

B-Cell Acute Lymphoblastic Leukemia +

Chronic Lymphocytic Leukemia +

Chronic Myelomonocytic Leukemia +

Malignant Solid Tumor +

Mixed Phenotype Acute Leukemia +

Multiple Myeloma +

Myelodysplastic Syndromes +

Myelodysplastic/Myeloproliferative Neoplasm +

Non-Hodgkin Lymphoma +

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 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.