GENE REFERENCE / HGNC:7497

MT-TS1

mitochondrially encoded tRNA-Ser (UCN) 1

non-coding RNAmitochondriaGene information

What does this gene do?

The MT-TS1 gene provides instructions for making a particular type of RNA, a molecule that is a chemical cousin of DNA. This type of RNA, called transfer RNA (tRNA), helps assemble protein building blocks known as amino acids into full-length, functioning proteins. The MT-TS1 gene provides instructions for a specific form of tRNA that is designated as tRNA^Ser(UCN). During protein assembly, this molecule attaches to a particular amino acid, serine (Ser), and inserts it into the appropriate locations in the growing protein.

The tRNA^Ser(UCN) molecule is present in cellular structures called mitochondria. These structures convert energy from food into a form that cells can use. Through a process called oxidative phosphorylation, mitochondria use oxygen, simple sugars, and fatty acids to create adenosine triphosphate (ATP), the cell's main energy source. The tRNA^Ser(UCN) molecule is involved in the assembly of proteins that carry out oxidative phosphorylation.

Source: MedlinePlus, National Library of Medicine. Source publication: 2020-08-18. Source review: 2014-05.

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
mitochondrial diseaseMONDO:0044970 · Evaluated 2023-01-19	Mitochondrial	DefinitiveMitochondrial Diseases 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: 43
Submissions for variants in or overlapping this gene: 163
Submissions explicitly reporting this gene: 146
Alleles reported pathogenic / likely pathogenic: 11
VariationIDs with uncertain significance: 15
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 MT-TS1?

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 11 alleles in MT-TS1 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 MT-TS1.

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

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