GENE REFERENCE / HGNC:3942

MTOR

mechanistic target of rapamycin kinase

protein-coding gene1p36.22Gene information

What does this gene do?

The MTOR gene provides instructions for making a protein called mTOR. This protein is found in various cell types throughout the body including brain cells. It interacts with other proteins to form two distinct protein groups, called mTOR complex 1 (mTORC1) and mTOR complex 2 (mTORC2). Both of these complexes transmit signals that direct the cells' function. Signaling through mTORC1 and mTORC2 regulate protein production, which influences cell growth, division, and survival. This mTOR signaling is especially important for growth and development of the brain, and it plays a role in a process called synaptic plasticity, which is the ability of the connections between nerve cells (synapses) to change and adapt over time in response to experience. Synaptic plasticity is critical for learning and memory.

Source: MedlinePlus, National Library of Medicine. Source publication: 2023-08-02. Source review: 2019-01.

ClinGen reviews

ClinGen reviews the evidence linking a particular gene to a condition. Each rating below describes the strength of that link. It does not classify a variant in your DNA file.

Condition	Inheritance	Evidence
overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genesMONDO:0100283 · Evaluated 2021-07-29	Autosomal dominant	DefinitiveBrain Malformations Gene Curation Expert Panel

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: 3,298
Submissions for variants in or overlapping this gene: 4,445
Submissions explicitly reporting this gene: 4,233
Alleles reported pathogenic / likely pathogenic: 58
VariationIDs with uncertain significance: 1,174
VariationIDs with conflicting classifications: 113

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 MTOR?

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 58 alleles in MTOR 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 MTOR.

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

Buy BioDecode See a sample report →Check file compatibility →