GENE REFERENCE / HGNC:76

ABL1

ABL proto-oncogene 1, non-receptor tyrosine kinase

protein-coding gene9q34.12Gene information

What does this gene do?

The ABL1 gene provides instructions for making a protein involved in many processes in cells throughout the body. The ABL1 protein functions as a kinase, which is an enzyme that changes the activity of other proteins by adding a cluster of oxygen and phosphorus atoms (a phosphate group) at specific positions. The ABL1 kinase is normally turned off (inactive) and must be turned on (activated) to perform its functions.

The ABL1 kinase can be turned on by a number of different triggers and can add a phosphate group to many different proteins (also called substrates). This diversity allows ABL1 to be involved in a wide variety of cellular processes, including cell growth and division (proliferation), maturation (differentiation), and movement (migration). It can either aid in cell survival or trigger controlled cell death (apoptosis), depending on cellular conditions. The ABL1 kinase interacts with several proteins involved in the network of fibers called the actin cytoskeleton, which makes up the structural framework inside cells. These interactions help control cell migration and the attachment of cells to one another (adhesion), among many other processes. ABL1 can also help regulate the activity of other genes.

The ABL1 gene belongs to a class of genes known as oncogenes. When mutated, oncogenes have the potential to cause normal cells to become cancerous.

Source: MedlinePlus, National Library of Medicine. Source publication: 2023-03-03. Source review: 2016-09.

ClinGen reviews

We found no matching ClinGen review in the data used here. This does not rule out a link between the gene and a condition.

ClinVar records

These numbers show what has been submitted to ClinVar. They cannot tell you how likely you are to have a condition.

Submitted alleles: 991
Submissions for variants in or overlapping this gene: 1,327
Submissions explicitly reporting this gene: 1,250
Alleles reported pathogenic / likely pathogenic: 30
VariationIDs with uncertain significance: 323
VariationIDs with conflicting classifications: 42

The rows count different things: alleles, submissions or VariationIDs. Their categories can overlap, so do not add them together. Pathogenic/likely pathogenic counts exclude structural variants that merely overlap a gene. A dash in the source means “not reported,” not zero.

NCBI produces the gene-summary file each week using counts recorded at the start of the month. The numbers may differ from those on the live ClinVar website. Read the field definitions ↗

View this gene in ClinVar ↗

YOUR DNA FILE

Can your DNA file tell you about ABL1?

From a DNA test kit (such as 23andMe, AncestryDNA or MyHeritage). These kits check a fixed list of about 600,000 to 700,000 positions across your whole genome. ClinVar lists 30 alleles in ABL1 reported as pathogenic or likely pathogenic. A kit checks only some of these positions, and often none of them.

From whole genome sequencing (a VCF file). Sequencing reads most of your genome. Your file lists the places where your DNA differs from the reference genome. Some regions are hard to sequence, including parts of some genes that have near-identical copies elsewhere, and a VCF file does not record which positions were read well.

If a variant is not in your file, that does not mean you don’t have it.

What BioDecode checks

BioDecode compares every variant in your file with ClinVar, on your own computer. For each match, it shows the ClinVar classification, the review status and the condition it was reported for. Your file is not uploaded.

A ClinVar classification applies to one particular variant and the condition it was reported for. It does not tell you about other variants in ABL1.

BioDecode cannot fill gaps in your test, diagnose a condition or replace clinical testing.

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