GENE REFERENCE / HGNC:17341

TRNT1

tRNA nucleotidyl transferase 1

protein-coding gene3p26.2Gene information

What does this gene do?

The TRNT1 gene provides instructions for making a protein involved in the production (synthesis) of other proteins. During protein synthesis, a molecule called transfer RNA (tRNA) helps assemble protein building blocks (amino acids) into a chain that forms the protein. Each tRNA carries a specific amino acid to the growing chain. The TRNT1 protein modifies tRNAs by adding a series of three DNA building blocks (nucleotides), called a CCA trinucleotide, to the molecule. This modification is essential for the correct amino acid to be attached to each tRNA.

While most protein synthesis occurs in the fluid surrounding the nucleus (cytoplasm), some proteins are synthesized in cell structures called mitochondria, which are the energy-producing centers in cells. Many mitochondrial proteins form groups (complexes) that carry out the reactions that produce energy. Separate tRNA molecules are used to build proteins in the cytoplasm and mitochondria. The TRNT1 protein attaches the CCA trinucleotide to both cytoplasmic and mitochondrial tRNA molecules.

Source: MedlinePlus, National Library of Medicine. Source publication: 2020-08-18. Source review: 2017-11.

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
congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndromeMONDO:0014487 · Evaluated 2022-10-30	Autosomal recessive	DefinitiveAntibody Deficiencies 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: 798
Submissions for variants in or overlapping this gene: 1,129
Submissions explicitly reporting this gene: 973
Alleles reported pathogenic / likely pathogenic: 89
VariationIDs with uncertain significance: 336
VariationIDs with conflicting classifications: 18

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 TRNT1?

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 89 alleles in TRNT1 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 TRNT1.

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

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