GENE REFERENCE / HGNC:393

AKT3

AKT serine/threonine kinase 3

protein-coding gene1q43-q44Gene information

What does this gene do?

The AKT3 gene provides instructions for making a protein that is most active in the nervous system. The AKT3 protein is a key regulator of a chemical signaling pathway called the PI3K-AKT-mTOR pathway. This signaling influences many critical cell functions, including the creation (synthesis) of new proteins, cell growth and division (proliferation), and the survival of cells. The PI3K-AKT-mTOR pathway is essential for the normal development of many parts of the body, including the brain. Studies suggest that the AKT3 protein plays a critical role in determining brain size.

Source: MedlinePlus, National Library of Medicine. Source publication: 2020-08-18. Source review: 2017-01.

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
microcephalyMONDO:0001149 · Evaluated 2021-10-26	Autosomal dominant	LimitedBrain 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: 465
Submissions for variants in or overlapping this gene: 605
Submissions explicitly reporting this gene: 347
Alleles reported pathogenic / likely pathogenic: 34
VariationIDs with uncertain significance: 139
VariationIDs with conflicting classifications: 10

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 AKT3?

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 34 alleles in AKT3 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 AKT3.

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

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