MT-TS2

mitochondrially encoded tRNA-Ser (AGU/C) 2, the group of Mitochondrially encoded transfer RNAs

Basic information

Region (hg38): M:12207-12265

Previous symbols: [ "MTTS2" ]

Links

ENSG00000210184 ∙ NCBI:4575 ∙ OMIM:590085 ∙ HGNC:7498 ∙ ∙ ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• mitochondrial disease (Moderate), mode of inheritance: Mitochondrial

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
Myoclonic epilepsy with ragged red fibers; Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes; Retinitis pigmentosa-deafness syndrome	Maternal	General	Genetic knowledge may be beneficial related to issues such as selection of optimal supportive care, informed medical decision-making, prognostic considerations, and avoidance of unnecessary testing	Audiologic/Otolaryngologic; Biochemical; Musculoskeletal; Neurologic; Ophthalmologic	8364569; 9135384; 10090882; 16950817
Mitochondrial variants may involve a variety of sequelae, including hearing impairment; As with other forms of epilepsy, optimal seizure control is advantageous, and genetic diagnosis may aid with medication selection

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the MT-TS2 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MT-TS2 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense						0
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	0	0	0

Variants in MT-TS2

This is a list of pathogenic ClinVar variants found in the MT-TS2 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
M-12213-G-A		MELAS syndrome	Uncertain significance (Jul 12, 2019)
M-12215-T-C		MELAS syndrome	Benign (Jul 12, 2019)
M-12216-C-T		MELAS syndrome	Benign (Jul 12, 2019)
M-12217-A-G		MELAS syndrome • Mitochondrial disease	Uncertain significance (Aug 22, 2023)
M-12218-C-A		MELAS syndrome	Uncertain significance (Jul 12, 2019)
M-12223-A-G		MELAS syndrome	Benign (Jul 12, 2019)
M-12230-A-G		MELAS syndrome	Uncertain significance (Jul 12, 2019)
M-12231-C-T		MELAS syndrome	Likely benign (Jul 12, 2019)
M-12234-A-G		MELAS syndrome	Benign (Jul 12, 2019)
M-12235-T-C		MELAS syndrome	Benign (Jul 12, 2019)
M-12236-G-A		not specified • MELAS syndrome	Conflicting classifications of pathogenicity (Jul 12, 2019)
M-12236-GC-G		MELAS syndrome • Mitochondrial disease • See cases	Uncertain significance (Aug 22, 2023)
M-12236-G-GC		MELAS syndrome	Uncertain significance (Jul 12, 2019)
M-12237-C-T		MELAS syndrome	Benign (Jul 12, 2019)
M-12239-C-T		MELAS syndrome • Mitochondrial disease	Benign (Jan 10, 2022)
M-12245-T-C		MELAS syndrome	Benign (Jul 12, 2019)
M-12246-C-A		not specified	Uncertain significance (May 04, 2022)
M-12246-C-T		MELAS syndrome	Benign (Jul 12, 2019)
M-12247-T-C		MELAS syndrome	Uncertain significance (Jul 12, 2019)
M-12248-A-G		MELAS syndrome	Benign (Jul 12, 2019)
M-12250-C-T		MELAS syndrome	Uncertain significance (Jul 12, 2019)
M-12255-T-C		MELAS syndrome	Uncertain significance (Jul 12, 2019)
M-12258-C-A		Cerebellar ataxia, cataract, and diabetes mellitus • Retinitis pigmentosa-deafness syndrome • Mitochondrial disease	Likely pathogenic (Mar 28, 2023)
M-12258-C-T		MELAS syndrome	Pathogenic/Likely pathogenic (May 04, 2022)
M-12264-C-T		MELAS syndrome	Pathogenic/Likely pathogenic (May 04, 2022)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

• Pathway: Aminoacyl-tRNA biosynthesis - Homo sapiens (human) (Consensus)

Mouse Genome Informatics

• Gene name: mt-Ts2