GENE REFERENCE / HGNC:4223

MSTN

myostatin

protein-coding gene2q32.2Gene information

What does this gene do?

The MSTN gene provides instructions for making a protein called myostatin. This protein is part of the transforming growth factor beta (TGFβ) superfamily, which is a group of proteins that help control the growth and development of tissues throughout the body. Myostatin is found almost exclusively in muscles used for movement (skeletal muscles), where it is active both before and after birth. This protein normally limits muscle growth, ensuring that muscles do not grow too large. Myostatin has been studied extensively in mice, cows, and other animals, and it appears to have a similar function in humans.

Researchers are studying myostatin as a potential treatment for various muscular dystrophies that cause muscle weakness and wasting (atrophy).

Source: MedlinePlus, National Library of Medicine. Source publication: 2022-07-28. Source review: 2008-12.

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: 122
Submissions for variants in or overlapping this gene: 159
Submissions explicitly reporting this gene: 130
Alleles reported pathogenic / likely pathogenic: 1
VariationIDs with uncertain significance: 59
VariationIDs with conflicting classifications: 1

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 MSTN?

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 1 allele in MSTN 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 MSTN.

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

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