MT-TS2

Chr MT

tRNA-Ser

Also known as: MTTS2

NCBI Gene: 4575 ENSG00000210184 OMIM: 590085

This gene encodes mitochondrial tRNA for serine (AGY codons), which is essential for mitochondrial protein synthesis and oxidative phosphorylation. Mutations cause MELAS-like syndrome and cardiomyopathy through disruption of mitochondrial function. Inheritance is maternal, and clinical severity depends on the degree of heteroplasmy in affected tissues.

GeneReviews OMIM ResearchSummary from Curated mito context

GeneReviews OMIM ResearchGenerating clinical summary…

Clinical Summary— MT-TS2

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Gene-Disease Validity (ClinGen)

mitochondrial disease · MTDefinitive

Definitive — sufficient evidence for diagnostic panels

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ClinVar Variants

1 unique Pathogenic / Likely Pathogenic· 14 VUS of 28 total submissions

Explore recent and relevant literature in Research Assistant →

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GeneReview available — MT-TS2

Authoritative clinical overview · Recommended first read

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Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

ClinVar Variant Classifications

28 submitted variants in ClinVar

ClinVar

Classification Summary

Likely Pathogenic1

VUS14

Likely Benign2

Benign10

Conflicting1

Likely Pathogenic

VUS

Likely Benign

Benign

Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories· variant type breakdown unavailable

Classification	LoF	Missense + Inframe	Non-coding	Synonymous	Total
Pathogenic	—	—	—	—	0
Likely Pathogenic	—	—	—	—	1
VUS	—	—	—	—	14
Likely Benign	—	—	—	—	2
Benign	—	—	—	—	10
Conflicting	—				1
Total	—				28

Counts from ClinVar esearch · Updated hourly

View in ClinVar →

20 pathogenic / likely-pathogenic (of 20) ClinVar copy-number / structural variants overlap MT-TS2 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →